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ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.

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# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
10001 P01911 (HLA-DRB1) S F 66 - Benign
10002 P01911 (HLA-DRB1) S L 66 - Benign
10003 P01911 (HLA-DRB1) S N 66 - Benign
10004 P01911 (HLA-DRB1) S Y 66 - Benign
10005 P01911 (HLA-DRB1) V A 67 - Benign
10006 P01911 (HLA-DRB1) V L 67 - Benign
10007 P01911 (HLA-DRB1) F Y 69 - Benign
10008 P01911 (HLA-DRB1) F Y 76 - Benign
10009 P01911 (HLA-DRB1) D A 86 - Benign
10010 P01911 (HLA-DRB1) D S 86 - Benign
10011 P01911 (HLA-DRB1) D V 86 - Benign
10012 P01911 (HLA-DRB1) A E 87 - Benign
10013 P01911 (HLA-DRB1) Y H 89 - Benign
10014 P01911 (HLA-DRB1) Y S 89 - Benign
10015 P01911 (HLA-DRB1) I F 96 - Benign
10016 P01911 (HLA-DRB1) I L 96 - Benign
10017 P01911 (HLA-DRB1) Q D 99 - Benign
10018 P01911 (HLA-DRB1) Q R 99 - Benign
10019 P01911 (HLA-DRB1) A E 100 - Benign
10020 P01911 (HLA-DRB1) A K 100 - Benign
10021 P01911 (HLA-DRB1) A R 100 - Benign
10022 P01911 (HLA-DRB1) A G 102 - Benign
10023 P01911 (HLA-DRB1) A E 103 - Benign
10024 P01911 (HLA-DRB1) A L 103 - Benign
10025 P01911 (HLA-DRB1) A Q 103 - Benign
10026 P01911 (HLA-DRB1) A R 103 - Benign
10027 P01911 (HLA-DRB1) T N 106 - Benign
10028 P01911 (HLA-DRB1) Y V 107 - Benign
10029 P01911 (HLA-DRB1) V A 114 - Benign
10030 P01911 (HLA-DRB1) V G 115 - Benign
10031 P01911 (HLA-DRB1) Q E 125 - Benign
10032 P01911 (HLA-DRB1) Q H 125 - Benign
10033 P01911 (HLA-DRB1) Q Y 125 - Benign
10034 P01911 (HLA-DRB1) K E 127 - Benign
10035 P01911 (HLA-DRB1) S A 133 - Benign
10036 P01911 (HLA-DRB1) H Y 141 - Benign
10037 P01911 (HLA-DRB1) S N 149 - Benign
10038 P01911 (HLA-DRB1) L R 162 - Benign
10039 P01911 (HLA-DRB1) A T 169 - Benign
10040 P01911 (HLA-DRB1) M V 171 - Benign
10041 P01911 (HLA-DRB1) Q H 178 - Benign
10042 P01911 (HLA-DRB1) R Q 195 - Benign
10043 P01911 (HLA-DRB1) V L 209 - Benign
10044 P01911 (HLA-DRB1) T M 210 - Benign
10045 P01911 (HLA-DRB1) R S 218 - Benign
10046 P01911 (HLA-DRB1) Q P 260 - Benign
10047 P01911 (HLA-DRB1) T R 262 - Benign
10048 P01920 (HLA-DQB1) A S 6 rs1049056 Benign
10049 P01920 (HLA-DQB1) G D 12 rs1049057 Benign
10050 P01920 (HLA-DQB1) A V 15 rs3189152 Benign
10051 P01920 (HLA-DQB1) A S 23 rs3891176 Benign
10052 P01920 (HLA-DQB1) M I 24 rs1049059 Benign
10053 P01920 (HLA-DQB1) T A 27 rs1049060 Benign
10054 P01920 (HLA-DQB1) T S 27 rs1049060 Benign
10055 P01920 (HLA-DQB1) P L 28 rs1049062 Benign
10056 P01920 (HLA-DQB1) P S 28 rs1049061 Benign
10057 P01920 (HLA-DQB1) V L 29 rs1130366 Benign
10058 P01920 (HLA-DQB1) S P 35 rs12722106 Benign
10059 P01920 (HLA-DQB1) Y F 41 rs9274407 Benign
10060 P01920 (HLA-DQB1) Y L 41 - Benign
10061 P01920 (HLA-DQB1) F L 43 rs56173496 Benign
10062 P01920 (HLA-DQB1) A G 45 rs1130375 Benign
10063 P01920 (HLA-DQB1) M L 46 rs1130368 Benign
10064 P01920 (HLA-DQB1) R L 55 rs41540813 Benign
10065 P01920 (HLA-DQB1) Y G 58 - Benign
10066 P01920 (HLA-DQB1) Y L 58 rs766817072 Benign
10067 P01920 (HLA-DQB1) V L 59 rs41563539 Benign
10068 P01920 (HLA-DQB1) T S 60 rs9274405 Benign
10069 P01920 (HLA-DQB1) Y H 62 rs281862065 Benign
10070 P01920 (HLA-DQB1) Y S 62 - Benign
10071 P01920 (HLA-DQB1) Y D 69 rs281874782 Benign
10072 P01920 (HLA-DQB1) Y I 69 - Benign
10073 P01920 (HLA-DQB1) A T 70 rs45519640 Benign
10074 P01920 (HLA-DQB1) A V 70 rs1063318 Benign
10075 P01920 (HLA-DQB1) E G 77 rs1049083 Benign
10076 P01920 (HLA-DQB1) V E 78 rs9274398 Benign
10077 P01920 (HLA-DQB1) Y F 79 rs9274397 Benign
10078 P01920 (HLA-DQB1) A V 81 rs41558214 Benign
10079 P01920 (HLA-DQB1) P L 84 rs9274395 Benign
10080 P01920 (HLA-DQB1) L Q 85 rs1140313 Benign
10081 P01920 (HLA-DQB1) P L 87 rs1130380 Benign
10082 P01920 (HLA-DQB1) P Q 87 rs1130380 Benign
10083 P01920 (HLA-DQB1) P R 87 rs1130380 Benign
10084 P01920 (HLA-DQB1) P L 88 rs1130381 Benign
10085 P01920 (HLA-DQB1) D A 89 rs1071637 Benign
10086 P01920 (HLA-DQB1) D S 89 - Benign
10087 P01920 (HLA-DQB1) D V 89 rs1071637 Benign
10088 P01920 (HLA-DQB1) Y N 92 rs41562414 Benign
10089 P01920 (HLA-DQB1) N K 94 rs1130382 Benign
10090 P01920 (HLA-DQB1) S R 95 rs41556215 Benign
10091 P01920 (HLA-DQB1) E D 98 rs9274390 Benign
10092 P01920 (HLA-DQB1) V D 99 rs41563814 Benign
10093 P01920 (HLA-DQB1) V I 99 rs9274390 Benign
10094 P01920 (HLA-DQB1) R E 102 - Benign
10095 P01920 (HLA-DQB1) R G 102 rs1130386 Benign
10096 P01920 (HLA-DQB1) T A 103 rs1130390 Benign
10097 P01920 (HLA-DQB1) T D 103 - Benign
10098 P01920 (HLA-DQB1) T K 103 - Benign
10099 P01920 (HLA-DQB1) E A 106 rs1130387 Benign
10100 P01920 (HLA-DQB1) E S 106 - Benign
10101 P01920 (HLA-DQB1) L V 107 rs9274384 Benign
10102 P01920 (HLA-DQB1) T R 109 rs1130392 Benign
10103 P01920 (HLA-DQB1) Q E 116 rs1140316 Benign
10104 P01920 (HLA-DQB1) L V 117 rs1140317 Benign
10105 P01920 (HLA-DQB1) E A 118 rs9274380 Benign
10106 P01920 (HLA-DQB1) E G 118 rs9274380 Benign
10107 P01920 (HLA-DQB1) L F 119 rs9274379 Benign
10108 P01920 (HLA-DQB1) L Y 119 - Benign
10109 P01920 (HLA-DQB1) T G 121 - Benign
10110 P01920 (HLA-DQB1) T I 122 rs1140320 Benign
10111 P01920 (HLA-DQB1) V I 148 rs1049100 Benign
10112 P01920 (HLA-DQB1) A G 157 rs1063322 Benign
10113 P01920 (HLA-DQB1) A S 157 - Benign
10114 P01920 (HLA-DQB1) Q H 158 rs41542812 Benign
10115 P01920 (HLA-DQB1) R Q 162 rs41544112 Benign
10116 P01920 (HLA-DQB1) R Q 165 rs9273989 Benign
10117 P01920 (HLA-DQB1) R W 165 rs63626961 Benign
10118 P01920 (HLA-DQB1) D G 167 rs2647032 Benign
10119 P01920 (HLA-DQB1) Q E 168 rs9273981 Benign
10120 P01920 (HLA-DQB1) T A 172 rs1063323 Benign
10121 P01920 (HLA-DQB1) E D 194 rs9273952 Benign
10122 P01920 (HLA-DQB1) P L 197 rs9273948 Benign
10123 P01920 (HLA-DQB1) H R 199 rs701564 Benign
10124 P01920 (HLA-DQB1) V I 202 rs80255621 Benign
10125 P01920 (HLA-DQB1) N S 214 rs1130398 Benign
10126 P01920 (HLA-DQB1) T I 217 rs1130399 Benign
10127 P01920 (HLA-DQB1) V A 218 rs281864132 Benign
10128 P01920 (HLA-DQB1) S N 229 rs1130429 Benign
10129 P01920 (HLA-DQB1) I V 235 rs1049163 Benign
10130 P01920 (HLA-DQB1) H R 252 rs1140342 Benign
10131 P01920 (HLA-DQB1) H Q 253 rs1140343 Benign
10132 P01920 (HLA-DQB1) Q R 256 rs1130432 Benign
10133 P02042 (HBD) V A 2 rs34991152 Benign
10134 P02042 (HBD) H L 3 rs35433207 Benign
10135 P02042 (HBD) H R 3 rs35433207 Benign
10136 P02042 (HBD) T I 5 rs35406175 Benign
10137 P02042 (HBD) T S 5 rs35406175 Benign
10138 P02042 (HBD) V G 12 rs34090605 Benign
10139 P02042 (HBD) N K 13 rs34313675 Benign
10140 P02042 (HBD) G R 17 rs34012192 Benign
10141 P02042 (HBD) V E 21 rs34093840 Benign
10142 P02042 (HBD) A E 23 rs35395083 Benign
10143 P02042 (HBD) G D 25 rs34460332 Benign
10144 P02042 (HBD) G D 26 rs34389944 Benign
10145 P02042 (HBD) E D 27 rs34289459 Benign
10146 P02042 (HBD) A S 28 rs35152987 Benign
10147 P02042 (HBD) P H 37 rs34383555 Benign
10148 P02042 (HBD) E G 44 rs36084266 Benign
10149 P02042 (HBD) E K 44 rs35166721 Benign
10150 P02042 (HBD) D V 48 rs34977235 Benign
10151 P02042 (HBD) P R 52 rs34489183 Benign
10152 P02042 (HBD) N K 58 rs35666685 Benign
10153 P02042 (HBD) G R 70 rs35913713 Benign
10154 P02042 (HBD) A G 71 rs63750423 Benign
10155 P02042 (HBD) L V 76 rs34430836 Benign
10156 P02042 (HBD) F S 86 rs35633566 Benign
10157 P02042 (HBD) Q K 88 rs63750674 Benign
10158 P02042 (HBD) L V 89 rs34933313 Benign
10159 P02042 (HBD) E V 91 rs34420481 Benign
10160 P02042 (HBD) C G 94 rs28933077 Benign
10161 P02042 (HBD) V M 99 rs28933076 Benign
10162 P02042 (HBD) D N 100 rs35329985 Benign
10163 P02042 (HBD) R S 105 rs34390965 Benign
10164 P02042 (HBD) R C 117 rs33971270 Benign
10165 P02042 (HBD) R H 117 rs34536353 Benign
10166 P02042 (HBD) N D 118 rs36049174 Benign
10167 P02042 (HBD) E V 122 rs35790721 Benign
10168 P02042 (HBD) Q E 126 rs36078803 Benign
10169 P02042 (HBD) V A 134 rs34802738 Benign
10170 P02042 (HBD) G D 137 rs35849348 Benign
10171 P02042 (HBD) A V 141 rs63750461 Benign
10172 P02042 (HBD) L P 142 rs33956485 Benign
10173 P02042 (HBD) A D 143 rs35848600 Benign
10174 P02042 (HBD) H R 147 rs34149886 Benign
10175 P02144 (MB) E K 55 rs145465287 Benign
10176 P02144 (MB) K N 134 rs766095327 Benign
10177 P02144 (MB) R Q 140 rs142225854 Benign
10178 P02144 (MB) R W 140 rs767663245 Benign
10179 P02452 (COL1A1) G R 22 rs72667007 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10180 P02452 (COL1A1) G R 194 rs72667024 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10181 P02452 (COL1A1) G C 197 rs8179178 Benign
10182 P02452 (COL1A1) G R 197 - Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10183 P02452 (COL1A1) G V 200 rs72667029 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10184 P02452 (COL1A1) G V 203 rs72667031 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10185 P02452 (COL1A1) P A 205 rs72667032 Benign
10186 P02452 (COL1A1) G C 221 rs72667037 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10187 P02452 (COL1A1) G C 224 rs72667038 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10188 P02452 (COL1A1) G D 242 rs72645315 Benign
10189 P02452 (COL1A1) G R 257 rs72645321 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10190 P02452 (COL1A1) G R 263 rs72645323 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10191 P02452 (COL1A1) G V 263 rs72645324 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10192 P02452 (COL1A1) G E 266 rs72645325 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10193 P02452 (COL1A1) G C 272 rs72645331 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10194 P02452 (COL1A1) G D 275 rs72645333 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10195 P02452 (COL1A1) G S 287 rs72645340 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10196 P02452 (COL1A1) R C 312 rs72645347 Disease: Ehlers- Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]
10197 P02452 (COL1A1) G V 320 rs72645353 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10198 P02452 (COL1A1) G R 332 rs72645357 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10199 P02452 (COL1A1) G C 338 - Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10200 P02452 (COL1A1) V F 349 rs72645362 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10201 P02452 (COL1A1) G R 350 rs72645363 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10202 P02452 (COL1A1) G C 353 rs66721653 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10203 P02452 (COL1A1) G D 353 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10204 P02452 (COL1A1) G S 353 rs66721653 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10205 P02452 (COL1A1) G C 356 rs72645365 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10206 P02452 (COL1A1) G V 368 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10207 P02452 (COL1A1) G C 383 rs67182491 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10208 P02452 (COL1A1) G C 389 rs66548636 Benign
10209 P02452 (COL1A1) G R 389 rs66548636 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10210 P02452 (COL1A1) G A 398 rs66501246 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10211 P02452 (COL1A1) G D 398 rs66501246 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10212 P02452 (COL1A1) G C 401 rs72648322 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10213 P02452 (COL1A1) G C 404 rs66893386 Benign
10214 P02452 (COL1A1) G C 422 rs72648328 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10215 P02452 (COL1A1) G S 425 rs72648330 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10216 P02452 (COL1A1) G V 434 rs72648333 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10217 P02452 (COL1A1) G D 455 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10218 P02452 (COL1A1) G V 470 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10219 P02452 (COL1A1) G R 476 rs57377812 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10220 P02452 (COL1A1) G V 509 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10221 P02452 (COL1A1) G C 527 rs72648353 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10222 P02452 (COL1A1) G S 530 rs67682641 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10223 P02452 (COL1A1) G D 533 rs72648356 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10224 P02452 (COL1A1) G A 548 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10225 P02452 (COL1A1) P R 555 rs72648359 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10226 P02452 (COL1A1) G C 560 rs67507747 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10227 P02452 (COL1A1) G R 560 rs67507747 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10228 P02452 (COL1A1) G S 560 rs67507747 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10229 P02452 (COL1A1) R H 564 rs1800211 Benign
10230 P02452 (COL1A1) G R 569 rs72648363 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10231 P02452 (COL1A1) G R 581 rs72648366 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10232 P02452 (COL1A1) G C 593 rs66527965 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10233 P02452 (COL1A1) G S 593 rs66527965 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10234 P02452 (COL1A1) G R 602 rs72651615 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10235 P02452 (COL1A1) G D 605 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10236 P02452 (COL1A1) G R 614 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10237 P02452 (COL1A1) G S 647 rs72651627 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10238 P02452 (COL1A1) G S 656 rs72651629 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10239 P02452 (COL1A1) G S 683 rs72651636 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10240 P02452 (COL1A1) G C 701 rs68114505 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10241 P02452 (COL1A1) G C 704 rs67368147 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10242 P02452 (COL1A1) G D 719 rs72651646 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10243 P02452 (COL1A1) G S 719 rs72651645 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10244 P02452 (COL1A1) G S 722 rs72651647 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10245 P02452 (COL1A1) G R 728 rs72651648 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10246 P02452 (COL1A1) G V 734 rs72651649 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10247 P02452 (COL1A1) G D 737 rs72651651 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10248 P02452 (COL1A1) G R 740 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10249 P02452 (COL1A1) G S 743 rs72651652 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10250 P02452 (COL1A1) G V 743 rs72651653 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10251 P02452 (COL1A1) G V 764 rs72651657 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10252 P02452 (COL1A1) G S 767 rs72651658 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10253 P02452 (COL1A1) G C 773 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10254 P02452 (COL1A1) G S 776 rs72651660 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10255 P02452 (COL1A1) G S 809 rs72651663 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10256 P02452 (COL1A1) G V 815 rs66929517 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10257 P02452 (COL1A1) G S 821 rs67693970 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10258 P02452 (COL1A1) P A 823 rs1800214 Benign
10259 P02452 (COL1A1) G R 824 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10260 P02452 (COL1A1) G D 833 rs67067133 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10261 P02452 (COL1A1) G S 839 rs72653131 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10262 P02452 (COL1A1) G R 842 rs72653134 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10263 P02452 (COL1A1) G R 845 rs72653136 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10264 P02452 (COL1A1) G R 848 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10265 P02452 (COL1A1) G D 851 rs72653137 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10266 P02452 (COL1A1) G S 866 rs67445413 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10267 P02452 (COL1A1) G C 869 rs72653143 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10268 P02452 (COL1A1) G S 875 rs72653145 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10269 P02452 (COL1A1) G S 884 - Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10270 P02452 (COL1A1) G C 896 rs72653152 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10271 P02452 (COL1A1) G D 896 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10272 P02452 (COL1A1) G C 926 rs72653154 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10273 P02452 (COL1A1) G C 947 rs72653159 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10274 P02452 (COL1A1) G D 977 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10275 P02452 (COL1A1) G V 980 rs72653166 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10276 P02452 (COL1A1) G C 1001 rs72653167 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10277 P02452 (COL1A1) G S 1010 rs72653169 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10278 P02452 (COL1A1) R C 1014 rs72653170 Disease: Caffey disease (CAFFD) [MIM:114000]
10279 P02452 (COL1A1) G A 1019 rs1135348 Benign
10280 P02452 (COL1A1) G S 1022 rs66523073 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10281 P02452 (COL1A1) G V 1022 rs67771061 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10282 P02452 (COL1A1) G R 1025 rs72653172 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10283 P02452 (COL1A1) G S 1040 rs72653178 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10284 P02452 (COL1A1) G S 1043 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10285 P02452 (COL1A1) G S 1049 rs67641695 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10286 P02452 (COL1A1) G D 1055 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10287 P02452 (COL1A1) G S 1058 rs72654795 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10288 P02452 (COL1A1) G D 1061 rs72654797 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10289 P02452 (COL1A1) G S 1061 rs72654796 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
10290 P02452 (COL1A1) R C 1066 rs72654799 Disease: -
10291 P02452 (COL1A1) T A 1075 rs1800215 Benign
10292 P02452 (COL1A1) G S 1076 rs67394386 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10293 P02452 (COL1A1) G S 1079 rs72654802 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10294 P02452 (COL1A1) G C 1082 rs72656303 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10295 P02452 (COL1A1) G A 1088 rs72656305 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10296 P02452 (COL1A1) G S 1091 rs72656306 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10297 P02452 (COL1A1) G S 1094 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10298 P02452 (COL1A1) G D 1100 rs72656308 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10299 P02452 (COL1A1) G A 1106 rs72656311 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10300 P02452 (COL1A1) G C 1124 rs72656312 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10301 P02452 (COL1A1) R Q 1141 rs41316713 Benign
10302 P02452 (COL1A1) G S 1142 rs72656317 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10303 P02452 (COL1A1) G S 1151 rs72656320 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10304 P02452 (COL1A1) G V 1151 rs72656321 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10305 P02452 (COL1A1) G R 1154 rs72656322 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10306 P02452 (COL1A1) G D 1157 rs72656323 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10307 P02452 (COL1A1) G C 1166 rs72656324 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10308 P02452 (COL1A1) G D 1172 rs72656325 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10309 P02452 (COL1A1) V I 1177 rs41316719 Benign
10310 P02452 (COL1A1) G S 1181 rs72656330 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10311 P02452 (COL1A1) G V 1184 rs72656331 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10312 P02452 (COL1A1) G S 1187 rs72656332 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10313 P02452 (COL1A1) G V 1187 rs66948146 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10314 P02452 (COL1A1) G C 1195 rs72656334 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10315 P02452 (COL1A1) D N 1219 rs72656338 Benign
10316 P02452 (COL1A1) D E 1219 rs72656339 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
10317 P02452 (COL1A1) S T 1251 rs3205325 Benign
10318 P02452 (COL1A1) D H 1277 rs72656342 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10319 P02452 (COL1A1) W C 1312 rs72656343 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10320 P02452 (COL1A1) R H 1356 rs149820303 Benign
10321 P02452 (COL1A1) L R 1388 rs72656348 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10322 P02452 (COL1A1) Q K 1391 rs2586486 Benign
10323 P02452 (COL1A1) D N 1413 rs72656349 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
10324 P02452 (COL1A1) K N 1430 rs1059454 Benign
10325 P02452 (COL1A1) T P 1431 rs1059454 Benign
10326 P02452 (COL1A1) T S 1434 rs1800220 Benign
10327 P02452 (COL1A1) P R 1438 rs17857117 Benign
10328 P02452 (COL1A1) P H 1460 rs17853657 Benign
10329 P02452 (COL1A1) L P 1464 rs72656353 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
10330 P02458 (COL2A1) T S 9 rs3803183 Benign
10331 P02458 (COL2A1) C Y 57 rs121912898 Disease: Stickler syndrome 1 non- syndromic ocular (STL1O) [MIM:609508]
10332 P02458 (COL2A1) E D 142 rs34392760 Benign
10333 P02458 (COL2A1) P L 158 rs1050861 Benign
10334 P02458 (COL2A1) G R 207 rs869312907 Disease: Spondyloepip hyseal dysplasia, Stanescu type (SEDSTN) [MIM:616583]
10335 P02458 (COL2A1) G D 240 - Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10336 P02458 (COL2A1) G D 267 rs121912872 Disease: Stickler syndrome 1 non- syndromic ocular (STL1O) [MIM:609508]
10337 P02458 (COL2A1) G R 270 - Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10338 P02458 (COL2A1) R C 275 rs121912876 Disease: Czech dysplasia (CZECHD) [MIM:609162]
10339 P02458 (COL2A1) G D 282 - Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10340 P02458 (COL2A1) G D 303 rs121912877 Disease: Kniest dysplasia (KD) [MIM:156550]
10341 P02458 (COL2A1) G R 318 rs121912894 Disease: Rhegmatogeno us retinal detachment autosomal dominant (DRRD) [MIM:609508]
10342 P02458 (COL2A1) G R 354 rs121912871 Benign
10343 P02458 (COL2A1) G R 375 - Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10344 P02458 (COL2A1) G S 447 - Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10345 P02458 (COL2A1) G A 453 rs794727339 Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10346 P02458 (COL2A1) G D 453 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10347 P02458 (COL2A1) G V 453 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10348 P02458 (COL2A1) G V 492 rs121912881 Disease: Spondyloepim etaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
10349 P02458 (COL2A1) G R 501 - Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10350 P02458 (COL2A1) G C 504 rs121912880 Disease: Spondyloepim etaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
10351 P02458 (COL2A1) G D 510 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10352 P02458 (COL2A1) G S 513 rs1555167156 Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10353 P02458 (COL2A1) G D 516 rs121912888 Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10354 P02458 (COL2A1) D V 547 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10355 P02458 (COL2A1) R C 565 rs121912884 Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10356 P02458 (COL2A1) T I 638 rs41263847 Benign
10357 P02458 (COL2A1) L F 667 rs121912885 Disease: Rhegmatogeno us retinal detachment autosomal dominant (DRRD) [MIM:609508]
10358 P02458 (COL2A1) G S 717 rs387906558 Disease: Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805]
10359 P02458 (COL2A1) G V 717 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10360 P02458 (COL2A1) R C 719 rs121912865 Disease: Osteoarthrit is with mild chondrodyspl asia (OSCDP) [MIM:604864]
10361 P02458 (COL2A1) G A 771 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10362 P02458 (COL2A1) G D 771 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10363 P02458 (COL2A1) G S 774 rs121912867 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10364 P02458 (COL2A1) G R 780 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10365 P02458 (COL2A1) G R 795 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10366 P02458 (COL2A1) G S 855 rs1193507525 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10367 P02458 (COL2A1) G R 891 rs121912879 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10368 P02458 (COL2A1) G E 894 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10369 P02458 (COL2A1) G V 897 - Disease: Spondyloepim etaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
10370 P02458 (COL2A1) R C 904 rs121912882 Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10371 P02458 (COL2A1) G C 909 rs121912875 Disease: Spondyloepim etaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
10372 P02458 (COL2A1) G D 948 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10373 P02458 (COL2A1) G S 969 rs121912878 Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10374 P02458 (COL2A1) G S 981 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10375 P02458 (COL2A1) R C 989 rs121912874 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10376 P02458 (COL2A1) R G 992 rs121912895 Disease: Spondyloepim etaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]
10377 P02458 (COL2A1) G S 1005 rs753342774 Benign
10378 P02458 (COL2A1) G V 1017 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10379 P02458 (COL2A1) A T 1051 rs41272041 Benign
10380 P02458 (COL2A1) G E 1053 rs121912868 Benign
10381 P02458 (COL2A1) G V 1065 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10382 P02458 (COL2A1) G C 1110 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10383 P02458 (COL2A1) G R 1119 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10384 P02458 (COL2A1) G S 1143 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10385 P02458 (COL2A1) G A 1158 - Disease: Stickler syndrome 1 (STL1) [MIM:108300]
10386 P02458 (COL2A1) G S 1170 rs121912891 Disease: Legg-Calve- Perthes disease (LCPD) [MIM:150600]
10387 P02458 (COL2A1) G R 1173 rs121912883 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10388 P02458 (COL2A1) G S 1176 - Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10389 P02458 (COL2A1) G R 1188 - Disease: Achondrogene sis 2 (ACG2) [MIM:200610]
10390 P02458 (COL2A1) G S 1197 rs121912870 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10391 P02458 (COL2A1) G D 1305 rs121912887 Benign
10392 P02458 (COL2A1) V I 1331 rs12721427 Benign
10393 P02458 (COL2A1) T M 1383 rs138498898 Disease: Avascular necrosis of femoral head, primary, 1 (ANFH1) [MIM:608805]
10394 P02458 (COL2A1) T N 1390 - Disease: Platyspondyl ic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
10395 P02458 (COL2A1) Y C 1391 rs121912889 Disease: Platyspondyl ic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
10396 P02458 (COL2A1) G S 1405 rs2070739 Benign
10397 P02458 (COL2A1) T M 1439 rs121912886 Disease: Spondyloepip hyseal dysplasia congenital type (SEDC) [MIM:183900]
10398 P02458 (COL2A1) T P 1448 - Disease: Platyspondyl ic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
10399 P02458 (COL2A1) R C 1459 rs148838496 Benign
10400 P02458 (COL2A1) D H 1469 - Disease: Platyspondyl ic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
10401 P02458 (COL2A1) C G 1485 - Disease: Platyspondyl ic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
10402 P02461 (COL3A1) P A 49 rs1234344050 Disease: Polymicrogyr ia with or without vascular- type Ehlers- Danlos syndrome (PMGEDSV) [MIM:618343]
10403 P02461 (COL3A1) L F 169 rs111391222 Benign
10404 P02461 (COL3A1) G C 183 rs121912926 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10405 P02461 (COL3A1) G D 183 rs587779420 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10406 P02461 (COL3A1) G S 183 rs121912926 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10407 P02461 (COL3A1) G V 192 rs587779710 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10408 P02461 (COL3A1) G R 201 rs587779436 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10409 P02461 (COL3A1) G D 204 rs587779626 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10410 P02461 (COL3A1) G S 204 rs587779711 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10411 P02461 (COL3A1) G D 210 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10412 P02461 (COL3A1) G C 219 rs587779624 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10413 P02461 (COL3A1) G V 225 rs587779533 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10414 P02461 (COL3A1) G E 228 rs587779555 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10415 P02461 (COL3A1) G R 240 rs587779468 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10416 P02461 (COL3A1) G V 243 rs587779629 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10417 P02461 (COL3A1) G D 249 rs121912927 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10418 P02461 (COL3A1) G V 249 rs121912927 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10419 P02461 (COL3A1) G D 252 rs587779464 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10420 P02461 (COL3A1) G R 252 rs587779705 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10421 P02461 (COL3A1) G V 252 rs587779464 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10422 P02461 (COL3A1) G V 255 rs587779605 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10423 P02461 (COL3A1) G R 264 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10424 P02461 (COL3A1) G V 267 rs587779427 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10425 P02461 (COL3A1) G R 297 rs1553507557 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10426 P02461 (COL3A1) G R 303 rs121912919 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10427 P02461 (COL3A1) G V 321 rs587779588 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10428 P02461 (COL3A1) G D 327 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10429 P02461 (COL3A1) G R 345 rs587779419 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10430 P02461 (COL3A1) G R 417 rs587779637 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10431 P02461 (COL3A1) G R 444 rs587779489 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10432 P02461 (COL3A1) G E 489 rs587779476 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10433 P02461 (COL3A1) G R 501 rs587779523 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10434 P02461 (COL3A1) G V 519 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10435 P02461 (COL3A1) G E 534 rs41263744 Benign
10436 P02461 (COL3A1) G R 540 rs587779584 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10437 P02461 (COL3A1) G E 549 rs587779679 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10438 P02461 (COL3A1) G E 552 rs121912928 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10439 P02461 (COL3A1) G E 567 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10440 P02461 (COL3A1) G S 582 rs121912923 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10441 P02461 (COL3A1) G D 588 rs587779691 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10442 P02461 (COL3A1) P T 602 rs35795890 Benign
10443 P02461 (COL3A1) P L 635 rs902780774 Benign
10444 P02461 (COL3A1) G R 636 rs587779522 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10445 P02461 (COL3A1) G E 657 rs587779699 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10446 P02461 (COL3A1) G D 660 rs587779493 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10447 P02461 (COL3A1) G D 666 rs121912921 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10448 P02461 (COL3A1) P T 668 rs1801183 Benign
10449 P02461 (COL3A1) A T 679 rs41263773 Benign
10450 P02461 (COL3A1) P A 686 rs41263775 Benign
10451 P02461 (COL3A1) A T 698 rs1800255 Benign
10452 P02461 (COL3A1) G R 699 rs587779668 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10453 P02461 (COL3A1) G R 726 rs587779638 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10454 P02461 (COL3A1) G S 738 rs121912925 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10455 P02461 (COL3A1) G V 738 rs587779615 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10456 P02461 (COL3A1) G V 744 rs587779697 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10457 P02461 (COL3A1) G E 756 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10458 P02461 (COL3A1) G C 762 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10459 P02461 (COL3A1) G R 786 rs113485686 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10460 P02461 (COL3A1) G S 804 rs121912920 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10461 P02461 (COL3A1) G R 828 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10462 P02461 (COL3A1) G W 828 rs587779486 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10463 P02461 (COL3A1) G C 852 rs587779690 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10464 P02461 (COL3A1) G V 879 rs587779645 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10465 P02461 (COL3A1) G D 882 rs587779622 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10466 P02461 (COL3A1) G D 900 rs587779599 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10467 P02461 (COL3A1) G E 903 rs587779505 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10468 P02461 (COL3A1) G D 909 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10469 P02461 (COL3A1) G V 909 rs587779483 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10470 P02461 (COL3A1) G E 918 rs587779662 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10471 P02461 (COL3A1) G C 924 rs587779471 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10472 P02461 (COL3A1) G R 936 rs587779566 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10473 P02461 (COL3A1) G S 936 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10474 P02461 (COL3A1) G D 939 rs112978464 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10475 P02461 (COL3A1) G E 942 rs587779517 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10476 P02461 (COL3A1) G S 957 rs121912913 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10477 P02461 (COL3A1) G V 960 rs121912922 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10478 P02461 (COL3A1) G V 966 rs587779571 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10479 P02461 (COL3A1) G A 972 rs587779559 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10480 P02461 (COL3A1) G T 984 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10481 P02461 (COL3A1) G E 996 rs587779576 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10482 P02461 (COL3A1) G R 999 rs587779548 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10483 P02461 (COL3A1) G E 1011 rs587779552 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10484 P02461 (COL3A1) G E 1014 rs121912916 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10485 P02461 (COL3A1) G V 1032 rs587779428 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10486 P02461 (COL3A1) G C 1035 rs587779704 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10487 P02461 (COL3A1) G D 1044 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10488 P02461 (COL3A1) G D 1050 rs121912914 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10489 P02461 (COL3A1) G V 1050 rs121912914 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10490 P02461 (COL3A1) G V 1071 rs587779709 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10491 P02461 (COL3A1) G V 1077 rs121912915 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10492 P02461 (COL3A1) G D 1089 rs587779672 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10493 P02461 (COL3A1) G D 1098 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10494 P02461 (COL3A1) G V 1098 rs587779614 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10495 P02461 (COL3A1) G E 1101 rs121912924 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10496 P02461 (COL3A1) G A 1104 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10497 P02461 (COL3A1) G V 1161 rs587779473 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10498 P02461 (COL3A1) G E 1164 rs587779431 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10499 P02461 (COL3A1) G R 1164 rs587779553 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10500 P02461 (COL3A1) G V 1167 rs587779578 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10501 P02461 (COL3A1) G D 1170 rs587779465 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10502 P02461 (COL3A1) G V 1170 rs587779465 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10503 P02461 (COL3A1) G E 1173 rs121912918 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10504 P02461 (COL3A1) G R 1173 rs587779521 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10505 P02461 (COL3A1) G V 1176 - Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10506 P02461 (COL3A1) G R 1179 rs587779574 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10507 P02461 (COL3A1) G E 1182 rs111505097 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10508 P02461 (COL3A1) G D 1185 rs121912917 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10509 P02461 (COL3A1) G V 1185 rs121912917 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10510 P02461 (COL3A1) G E 1188 rs112456072 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10511 P02461 (COL3A1) G R 1188 rs587779504 Disease: Ehlers- Danlos syndrome, vascular type (EDSVASC) [MIM:130050]
10512 P02461 (COL3A1) I V 1205 rs2271683 Benign
10513 P02461 (COL3A1) G E 1284 rs587779528 Disease: Polymicrogyr ia with or without vascular- type Ehlers- Danlos syndrome (PMGEDSV) [MIM:618343]
10514 P02461 (COL3A1) H Q 1353 rs1516446 Benign
10515 P02462 (COL4A1) V L 7 rs9515185 Benign
10516 P02462 (COL4A1) A V 144 - Benign
10517 P02462 (COL4A1) P L 304 rs34843786 Benign
10518 P02462 (COL4A1) P L 352 rs200786329 Disease: Intracerebra l hemorrhage (ICH) [MIM:614519]
10519 P02462 (COL4A1) G R 498 rs267606744 Disease: Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
10520 P02462 (COL4A1) G V 498 rs113994104 Disease: Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
10521 P02462 (COL4A1) G R 510 rs267606743 Disease: Tortuosity of retinal arteries (RATOR) [MIM:180000]
10522 P02462 (COL4A1) G R 519 rs113994105 Disease: Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
10523 P02462 (COL4A1) G L 525 - Disease: Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
10524 P02462 (COL4A1) G E 528 rs113994106 Disease: Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
10525 P02462 (COL4A1) R G 538 rs397514624 Disease: Intracerebra l hemorrhage (ICH) [MIM:614519]
10526 P02462 (COL4A1) P T 555 rs536174 Benign
10527 P02462 (COL4A1) G E 562 rs121912857 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10528 P02462 (COL4A1) G R 655 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10529 P02462 (COL4A1) G R 708 rs672601349 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10530 P02462 (COL4A1) G D 720 rs113994108 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10531 P02462 (COL4A1) G S 749 rs113994109 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10532 P02462 (COL4A1) G R 755 rs672601346 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10533 P02462 (COL4A1) G R 773 rs672601347 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10534 P02462 (COL4A1) G R 805 rs113994110 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10535 P02462 (COL4A1) G R 870 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10536 P02462 (COL4A1) G D 882 - Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10537 P02462 (COL4A1) G S 897 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10538 P02462 (COL4A1) G S 948 rs1555303073 Disease: Schizencepha ly (SCHZC) [MIM:269160]
10539 P02462 (COL4A1) G E 1041 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10540 P02462 (COL4A1) G E 1082 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10541 P02462 (COL4A1) G D 1130 rs113994111 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10542 P02462 (COL4A1) G R 1236 rs113994112 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10543 P02462 (COL4A1) G R 1266 - Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10544 P02462 (COL4A1) G R 1326 rs587777379 Disease: Schizencepha ly (SCHZC) [MIM:269160]
10545 P02462 (COL4A1) G D 1332 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10546 P02462 (COL4A1) Q H 1334 rs3742207 Benign
10547 P02462 (COL4A1) G R 1423 rs113994113 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10548 P02462 (COL4A1) M V 1531 rs1343193102 Benign
10549 P02462 (COL4A1) G R 1580 rs113994114 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10550 P02462 (COL4A1) E K 1615 - Disease: Schizencepha ly (SCHZC) [MIM:269160]
10551 P02462 (COL4A1) N K 1627 rs672601348 Disease: Brain small vessel disease 1 with or without ocular anomalies (BSVD1) [MIM:175780]
10552 P02489 (CRYAA) R C 12 rs397515624 Disease: Cataract 9, multiple types (CTRCT9) [MIM:604219]
10553 P02489 (CRYAA) R L 21 - Disease: Cataract 9, multiple types (CTRCT9) [MIM:604219]
10554 P02489 (CRYAA) R C 49 rs74315441 Disease: Cataract 9, multiple types (CTRCT9) [MIM:604219]
10555 P02489 (CRYAA) R C 116 rs74315439 Disease: Cataract 9, multiple types (CTRCT9) [MIM:604219]
10556 P02489 (CRYAA) R H 116 rs121912973 Disease: Cataract 9, multiple types (CTRCT9) [MIM:604219]
10557 P02511 (CRYAB) S Y 41 rs2234703 Benign
10558 P02511 (CRYAB) P L 51 rs2234704 Benign
10559 P02511 (CRYAB) D G 109 rs1114167341 Disease: -
10560 P02511 (CRYAB) D H 109 rs387907339 Disease: Myopathy, myofibrillar , 2 (MFM2) [MIM:608810]
10561 P02511 (CRYAB) R G 120 rs104894201 Disease: Myopathy, myofibrillar , 2 (MFM2) [MIM:608810]
10562 P02511 (CRYAB) G S 154 rs150516929 Disease: Cardiomyopat hy, dilated 1II (CMD1II) [MIM:615184]
10563 P02511 (CRYAB) R H 157 rs141638421 Disease: Cardiomyopat hy, dilated 1II (CMD1II) [MIM:615184]
10564 P02533 (KRT14) C Y 63 rs6503640 Benign
10565 P02533 (KRT14) A T 94 rs3826550 Benign
10566 P02533 (KRT14) K N 116 rs59271739 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10567 P02533 (KRT14) M I 119 rs57358989 Benign
10568 P02533 (KRT14) M T 119 rs28928893 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10569 P02533 (KRT14) M V 119 rs61263401 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10570 P02533 (KRT14) Q R 120 rs60993843 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10571 P02533 (KRT14) L F 122 rs59110575 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10572 P02533 (KRT14) N K 123 rs3826549 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10573 P02533 (KRT14) N S 123 rs60171927 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10574 P02533 (KRT14) R C 125 rs60399023 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10575 P02533 (KRT14) R G 125 rs60399023 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10576 P02533 (KRT14) R H 125 rs58330629 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10577 P02533 (KRT14) R S 125 - Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10578 P02533 (KRT14) Y D 129 rs60470268 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10579 P02533 (KRT14) L P 130 rs57522245 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10580 P02533 (KRT14) V A 133 rs56798071 Benign
10581 P02533 (KRT14) V L 133 rs61027685 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10582 P02533 (KRT14) R P 134 rs61540016 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10583 P02533 (KRT14) L P 143 rs61326242 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10584 P02533 (KRT14) E A 144 rs57121345 Disease: Epidermolysi s bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]
10585 P02533 (KRT14) R C 148 rs58378809 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10586 P02533 (KRT14) R P 211 rs60589227 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10587 P02533 (KRT14) E K 215 rs11551755 Benign
10588 P02533 (KRT14) A D 247 rs147611635 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10589 P02533 (KRT14) V M 270 rs58560979 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10590 P02533 (KRT14) M R 272 rs61371557 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10591 P02533 (KRT14) M T 272 rs61371557 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10592 P02533 (KRT14) D G 273 rs59375065 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10593 P02533 (KRT14) A D 274 rs58785777 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10594 P02533 (KRT14) I N 377 rs61536893 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10595 P02533 (KRT14) L P 384 rs59629244 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10596 P02533 (KRT14) R C 388 rs59966597 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10597 P02533 (KRT14) R H 388 rs58645163 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10598 P02533 (KRT14) L M 408 rs57200223 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10599 P02533 (KRT14) A T 413 rs59780231 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10600 P02533 (KRT14) Y C 415 rs59442925 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10601 P02533 (KRT14) Y H 415 rs58380626 Disease: Epidermolysi s bullosa simplex, Koebner type (K-EBS) [MIM:131900]
10602 P02533 (KRT14) R P 416 rs60622724 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10603 P02533 (KRT14) R P 417 rs61085704 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10604 P02533 (KRT14) L Q 418 - Disease: -
10605 P02533 (KRT14) L Q 419 rs57364972 Disease: Epidermolysi s bullosa simplex, Dowling- Meara type (DM-EBS) [MIM:131760]
10606 P02533 (KRT14) E K 422 rs58762773 Disease: Epidermolysi s bullosa simplex, Weber- Cockayne type (WC-EBS) [MIM:131800]
10607 P02538 (KRT6A) N S 21 rs17845411 Benign
10608 P02538 (KRT6A) G D 111 rs681063 Benign
10609 P02538 (KRT6A) R P 164 rs62635293 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10610 P02538 (KRT6A) Q P 166 rs267607460 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10611 P02538 (KRT6A) I N 167 rs57126929 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10612 P02538 (KRT6A) L F 170 rs57448541 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10613 P02538 (KRT6A) N D 171 rs62635294 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10614 P02538 (KRT6A) N K 171 rs59685571 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10615 P02538 (KRT6A) N S 171 rs58556099 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10616 P02538 (KRT6A) N Y 171 rs62635294 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10617 P02538 (KRT6A) F C 174 rs61145796 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10618 P02538 (KRT6A) F S 174 rs61145796 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10619 P02538 (KRT6A) F V 174 rs28933087 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10620 P02538 (KRT6A) S P 176 rs59642296 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10621 P02538 (KRT6A) I N 178 rs267607461 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10622 P02538 (KRT6A) I N 462 rs57629991 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10623 P02538 (KRT6A) I S 462 rs57629991 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10624 P02538 (KRT6A) A P 463 rs267607462 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10625 P02538 (KRT6A) T P 464 rs61293647 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10626 P02538 (KRT6A) Y H 465 rs267607463 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10627 P02538 (KRT6A) Y S 465 - Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10628 P02538 (KRT6A) L P 468 rs59018888 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10629 P02538 (KRT6A) L Q 468 rs59018888 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10630 P02538 (KRT6A) L P 469 rs57052654 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10631 P02538 (KRT6A) L R 469 rs57052654 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10632 P02538 (KRT6A) E K 472 rs60554162 Disease: Pachyonychia congenita 3 (PC3) [MIM:615726]
10633 P02545 (LMNA) T S 24 - Disease: Emery- Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]
10634 P02545 (LMNA) R G 25 rs58327533 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10635 P02545 (LMNA) R P 25 rs61578124 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10636 P02545 (LMNA) R W 28 rs59914820 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10637 P02545 (LMNA) E D 33 rs57966821 Benign
10638 P02545 (LMNA) E G 33 rs267607614 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10639 P02545 (LMNA) L V 35 rs56694480 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10640 P02545 (LMNA) N S 39 rs57983345 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10641 P02545 (LMNA) A T 43 rs60446065 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10642 P02545 (LMNA) Y C 45 rs58436778 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10643 P02545 (LMNA) R P 50 rs60695352 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10644 P02545 (LMNA) R S 50 rs59931416 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10645 P02545 (LMNA) A P 57 rs28928903 Disease: Cardiomyopat hy, dilated, with hypergonadot ropic hypogonadism (CMDHH) [MIM:212112]
10646 P02545 (LMNA) L R 59 rs58922911 Disease: Cardiomyopat hy, dilated, with hypergonadot ropic hypogonadism (CMDHH) [MIM:212112]
10647 P02545 (LMNA) R G 60 rs28928900 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10648 P02545 (LMNA) R G 62 rs56793579 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10649 P02545 (LMNA) I N 63 rs57793737 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10650 P02545 (LMNA) I S 63 rs57793737 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10651 P02545 (LMNA) E G 65 - Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10652 P02545 (LMNA) L R 85 rs28933090 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10653 P02545 (LMNA) R L 89 rs59040894 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10654 P02545 (LMNA) L F 92 rs267607560 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10655 P02545 (LMNA) K E 97 rs59065411 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10656 P02545 (LMNA) R P 101 rs267607568 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10657 P02545 (LMNA) R L 133 rs60864230 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10658 P02545 (LMNA) R P 133 rs60864230 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10659 P02545 (LMNA) E K 138 rs267607649 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10660 P02545 (LMNA) L P 140 rs60652225 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10661 P02545 (LMNA) L R 140 rs60652225 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10662 P02545 (LMNA) S F 143 rs58912633 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10663 P02545 (LMNA) S P 143 rs61661343 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10664 P02545 (LMNA) E K 145 rs60310264 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10665 P02545 (LMNA) T P 150 rs58917027 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10666 P02545 (LMNA) E K 161 rs28933093 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10667 P02545 (LMNA) R P 166 rs267607570 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10668 P02545 (LMNA) R P 189 rs267607643 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10669 P02545 (LMNA) R Q 190 rs267607571 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10670 P02545 (LMNA) R W 190 rs59026483 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10671 P02545 (LMNA) D G 192 rs57045855 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10672 P02545 (LMNA) N K 195 rs28933091 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10673 P02545 (LMNA) E G 203 rs28933092 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10674 P02545 (LMNA) E K 203 rs61195471 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10675 P02545 (LMNA) F L 206 rs267607629 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10676 P02545 (LMNA) I S 210 rs267607572 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10677 P02545 (LMNA) L P 215 rs61295588 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10678 P02545 (LMNA) H P 222 rs58034145 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10679 P02545 (LMNA) H Y 222 rs28928901 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10680 P02545 (LMNA) R Q 225 rs199474724 Disease: Emery- Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]
10681 P02545 (LMNA) D N 230 rs61214927 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10682 P02545 (LMNA) G E 232 rs57207746 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10683 P02545 (LMNA) L P 248 rs58850446 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10684 P02545 (LMNA) R Q 249 rs59332535 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10685 P02545 (LMNA) R W 249 rs121912496 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10686 P02545 (LMNA) Y C 259 - Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10687 P02545 (LMNA) Y C 267 rs57048196 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10688 P02545 (LMNA) S P 268 rs267607630 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10689 P02545 (LMNA) L P 271 rs267607641 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10690 P02545 (LMNA) Q P 294 rs61616775 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10691 P02545 (LMNA) S P 295 rs267607633 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10692 P02545 (LMNA) R C 298 rs59885338 Disease: Charcot- Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]
10693 P02545 (LMNA) D G 300 rs79907212 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10694 P02545 (LMNA) L P 302 rs267607596 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10695 P02545 (LMNA) S P 303 rs61527854 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10696 P02545 (LMNA) E K 317 rs56816490 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10697 P02545 (LMNA) A T 318 rs267607574 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10698 P02545 (LMNA) R Q 336 rs58105277 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10699 P02545 (LMNA) R Q 343 rs61177390 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10700 P02545 (LMNA) R L 349 rs58789393 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10701 P02545 (LMNA) E K 358 rs60458016 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10702 P02545 (LMNA) E K 361 rs267607634 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10703 P02545 (LMNA) M K 371 rs59653062 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10704 P02545 (LMNA) R H 377 rs61672878 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10705 P02545 (LMNA) R L 377 rs61672878 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10706 P02545 (LMNA) L S 380 rs121912495 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10707 P02545 (LMNA) R K 386 rs267607545 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10708 P02545 (LMNA) R H 388 rs267607576 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10709 P02545 (LMNA) R C 399 rs58672172 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10710 P02545 (LMNA) R C 401 rs61094188 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10711 P02545 (LMNA) G D 411 rs267607647 Disease: -
10712 P02545 (LMNA) G C 413 rs766811975 Benign
10713 P02545 (LMNA) R C 419 rs755686359 Benign
10714 P02545 (LMNA) L P 421 rs267607564 Disease: -
10715 P02545 (LMNA) R G 427 - Benign
10716 P02545 (LMNA) R C 435 rs150840924 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10717 P02545 (LMNA) R C 439 rs62636506 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10718 P02545 (LMNA) D V 446 rs58541611 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10719 P02545 (LMNA) G D 449 rs267607637 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10720 P02545 (LMNA) R P 453 rs267607598 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10721 P02545 (LMNA) R W 453 rs58932704 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10722 P02545 (LMNA) L P 454 rs267607638 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10723 P02545 (LMNA) R P 455 rs267607597 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10724 P02545 (LMNA) N D 456 rs267607599 Disease: Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
10725 P02545 (LMNA) N I 456 rs60992550 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10726 P02545 (LMNA) N K 456 rs61235244 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10727 P02545 (LMNA) D Y 461 rs267607642 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10728 P02545 (LMNA) G D 465 rs61282106 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10729 P02545 (LMNA) W R 467 rs267607639 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10730 P02545 (LMNA) I T 469 rs57394692 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10731 P02545 (LMNA) R C 471 rs28928902 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10732 P02545 (LMNA) R H 471 rs267607578 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10733 P02545 (LMNA) Y H 481 rs57747780 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10734 P02545 (LMNA) R L 482 rs11575937 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10735 P02545 (LMNA) R Q 482 rs11575937 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10736 P02545 (LMNA) R W 482 rs57920071 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10737 P02545 (LMNA) K N 486 rs59981161 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10738 P02545 (LMNA) T P 488 rs267607607 Benign
10739 P02545 (LMNA) K E 515 - Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10740 P02545 (LMNA) W S 520 rs58362413 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10741 P02545 (LMNA) G R 523 rs201583907 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10742 P02545 (LMNA) R C 527 rs57318642 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10743 P02545 (LMNA) R H 527 rs57520892 Disease: Mandibuloacr al dysplasia with type A lipodystroph y (MADA) [MIM:248370]
10744 P02545 (LMNA) R P 527 rs57520892 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10745 P02545 (LMNA) T K 528 rs57629361 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10746 P02545 (LMNA) T R 528 rs57629361 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10747 P02545 (LMNA) A V 529 rs60580541 Disease: Mandibuloacr al dysplasia with type A lipodystroph y (MADA) [MIM:248370]
10748 P02545 (LMNA) L P 530 rs60934003 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10749 P02545 (LMNA) R C 541 rs56984562 Disease: Cardiomyopat hy, dilated 1A (CMD1A) [MIM:115200]
10750 P02545 (LMNA) R H 541 rs61444459 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10751 P02545 (LMNA) R P 541 rs61444459 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10752 P02545 (LMNA) R S 541 rs56984562 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10753 P02545 (LMNA) K N 542 rs56673169 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10754 P02545 (LMNA) S L 573 rs60890628 Disease: Mandibuloacr al dysplasia with type A lipodystroph y (MADA) [MIM:248370]
10755 P02545 (LMNA) E V 578 rs61224243 Benign
10756 P02545 (LMNA) R H 582 rs57830985 Disease: Lipodystroph y, familial partial, 2 (FPLD2) [MIM:151660]
10757 P02545 (LMNA) G S 602 rs60662302 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10758 P02545 (LMNA) G S 608 rs61064130 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10759 P02545 (LMNA) R H 624 rs13768 Disease: Emery- Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
10760 P02545 (LMNA) G D 631 rs267607648 Disease: -
10761 P02545 (LMNA) R C 644 rs142000963 Disease: Hutchinson- Gilford progeria syndrome (HGPS) [MIM:176670]
10762 P02549 (SPTA1) I S 24 - Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10763 P02549 (SPTA1) R C 28 rs121918642 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10764 P02549 (SPTA1) R H 28 rs121918641 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10765 P02549 (SPTA1) R L 28 rs121918641 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10766 P02549 (SPTA1) R S 28 rs121918642 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10767 P02549 (SPTA1) V A 31 rs773826036 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10768 P02549 (SPTA1) R W 34 rs201568233 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10769 P02549 (SPTA1) R W 41 rs121918640 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10770 P02549 (SPTA1) R S 45 rs121918637 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10771 P02549 (SPTA1) R T 45 - Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10772 P02549 (SPTA1) G V 46 rs121918638 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10773 P02549 (SPTA1) K R 48 rs121918644 Disease: Hereditary pyropoikiloc ytosis (HPP) [MIM:266140]
10774 P02549 (SPTA1) L F 49 rs121918639 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10775 P02549 (SPTA1) S F 109 rs3737521 Benign
10776 P02549 (SPTA1) G D 151 rs199725919 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10777 P02549 (SPTA1) D N 152 rs16840544 Benign
10778 P02549 (SPTA1) L P 207 rs121918643 Disease: Hereditary pyropoikiloc ytosis (HPP) [MIM:266140]
10779 P02549 (SPTA1) L P 260 rs121918634 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10780 P02549 (SPTA1) S P 261 rs121918636 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10781 P02549 (SPTA1) H P 469 - Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10782 P02549 (SPTA1) Q P 471 rs121918635 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10783 P02549 (SPTA1) R H 701 rs12090314 Benign
10784 P02549 (SPTA1) A T 766 rs11265047 Benign
10785 P02549 (SPTA1) D E 791 rs7418956 Disease: Elliptocytos is 2 (EL2) [MIM:130600]
10786 P02549 (SPTA1) I V 809 rs7547313 Benign
10787 P02549 (SPTA1) T R 853 rs35121052 Benign
10788 P02549 (SPTA1) A V 957 rs34706737 Benign
10789 P02549 (SPTA1) A D 970 rs35948326 Benign
10790 P02549 (SPTA1) S A 1163 rs2482965 Benign
10791 P02549 (SPTA1) R I 1330 rs34214405 Benign
10792 P02549 (SPTA1) C R 1568 rs863931 Benign
10793 P02549 (SPTA1) K Q 1693 rs857725 Benign
10794 P02549 (SPTA1) N S 1836 rs16830483 Benign
10795 P02549 (SPTA1) L V 1858 rs3737515 Benign
10796 P02549 (SPTA1) I T 2265 rs952094 Benign
10797 P02647 (APOA1) P H 27 rs121912720 Benign
10798 P02647 (APOA1) P R 27 rs121912720 Benign
10799 P02647 (APOA1) P R 28 rs121912721 Benign
10800 P02647 (APOA1) R L 34 rs28929476 Benign
10801 P02647 (APOA1) G R 50 rs28931574 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
10802 P02647 (APOA1) A T 61 rs12718465 Benign
10803 P02647 (APOA1) L R 84 rs121912724 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
10804 P02647 (APOA1) T I 92 rs766422306 Benign
10805 P02647 (APOA1) D E 113 rs150243849 Benign
10806 P02647 (APOA1) D H 126 rs5077 Benign
10807 P02647 (APOA1) D N 127 rs921646982 Benign
10808 P02647 (APOA1) K M 131 rs4882 Benign
10809 P02647 (APOA1) E K 160 rs121912718 Benign
10810 P02647 (APOA1) E G 163 rs758509542 Benign
10811 P02647 (APOA1) P R 167 rs121912719 Benign
10812 P02647 (APOA1) E V 171 rs1015066427 Benign
10813 P02647 (APOA1) V E 180 rs121912727 Benign
10814 P02647 (APOA1) R P 184 rs5078 Benign
10815 P02647 (APOA1) P R 189 rs121912722 Benign
10816 P02647 (APOA1) R C 197 rs28931573 Benign
10817 P02647 (APOA1) L S 198 - Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
10818 P02647 (APOA1) E K 222 rs121912717 Benign
10819 P02649 (APOE) E K 21 rs121918392 Benign
10820 P02649 (APOE) E K 31 rs201672011 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10821 P02649 (APOE) R C 43 rs121918399 Disease: Lipoprotein glomerulopat hy (LPG) [MIM:611771]
10822 P02649 (APOE) T A 60 rs28931576 Benign
10823 P02649 (APOE) Q H 64 rs370594287 Benign
10824 P02649 (APOE) Q K 99 rs1180612218 Benign
10825 P02649 (APOE) P R 102 rs11083750 Benign
10826 P02649 (APOE) A T 117 rs28931577 Benign
10827 P02649 (APOE) A V 124 rs937063425 Benign
10828 P02649 (APOE) C R 130 rs429358 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10829 P02649 (APOE) R Q 152 rs28931578 Benign
10830 P02649 (APOE) R C 154 rs121918393 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10831 P02649 (APOE) R S 154 rs121918393 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10832 P02649 (APOE) R C 160 rs387906567 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10833 P02649 (APOE) R C 163 rs769455 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10834 P02649 (APOE) R P 163 rs121918397 Disease: Lipoprotein glomerulopat hy (LPG) [MIM:611771]
10835 P02649 (APOE) K E 164 rs121918394 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10836 P02649 (APOE) K Q 164 rs121918394 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10837 P02649 (APOE) A P 170 rs267606662 Benign
10838 P02649 (APOE) R C 176 rs7412 Disease: Hyperlipopro teinemia 3 (HLPP3) [MIM:617347]
10839 P02649 (APOE) R Q 242 rs267606663 Benign
10840 P02649 (APOE) R C 246 rs121918395 Benign
10841 P02649 (APOE) V E 254 rs199768005 Benign
10842 P02649 (APOE) R G 269 rs267606661 Benign
10843 P02649 (APOE) R H 292 rs121918398 Benign
10844 P02649 (APOE) S R 314 rs28931579 Benign
10845 P02654 (APOC1) I M 16 rs5112 Benign
10846 P02654 (APOC1) T S 71 rs142372275 Benign
10847 P02655 (APOC2) K T 41 rs120074114 Benign
10848 P02655 (APOC2) W R 48 rs120074115 Disease: Hyperlipopro teinemia 1B (HLPP1B) [MIM:207750]
10849 P02655 (APOC2) E K 60 rs5122 Benign
10850 P02655 (APOC2) K Q 77 rs5126 Benign
10851 P02656 (APOC3) K E 78 rs121918382 Disease: Hyperalphali poproteinemi a 2 (HALP2) [MIM:614028]
10852 P02656 (APOC3) T A 94 rs121918381 Benign
10853 P02671 (FGA) I V 6 rs2070025 Benign
10854 P02671 (FGA) D N 26 rs121909604 Benign
10855 P02671 (FGA) G V 31 rs121909605 Benign
10856 P02671 (FGA) R H 35 rs121909607 Benign
10857 P02671 (FGA) R C 35 rs121909606 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10858 P02671 (FGA) P L 37 rs121909609 Benign
10859 P02671 (FGA) R G 38 rs121909608 Benign
10860 P02671 (FGA) R S 38 rs1403508334 Benign
10861 P02671 (FGA) V D 39 rs121909614 Benign
10862 P02671 (FGA) C R 55 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10863 P02671 (FGA) S T 66 - Benign
10864 P02671 (FGA) R P 129 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10865 P02671 (FGA) C W 184 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10866 P02671 (FGA) T A 331 rs6050 Benign
10867 P02671 (FGA) K E 446 rs6052 Benign
10868 P02671 (FGA) S N 453 rs121909610 Benign
10869 P02671 (FGA) T A 456 rs2070031 Benign
10870 P02671 (FGA) E V 545 rs121909612 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
10871 P02671 (FGA) R C 573 rs121909613 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10872 P02671 (FGA) R L 573 rs78506343 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
10873 P02675 (FGB) K E 2 rs6053 Benign
10874 P02675 (FGB) R C 44 rs121909616 Benign
10875 P02675 (FGB) R C 74 rs121909619 Benign
10876 P02675 (FGB) C R 95 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10877 P02675 (FGB) A T 98 rs121909620 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10878 P02675 (FGB) P S 100 rs2227434 Benign
10879 P02675 (FGB) N H 170 rs2227409 Benign
10880 P02675 (FGB) R C 196 rs121909623 Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10881 P02675 (FGB) L Q 202 rs121909624 Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10882 P02675 (FGB) P L 265 rs6054 Benign
10883 P02675 (FGB) A T 365 rs121909617 Benign
10884 P02675 (FGB) L R 383 rs121909621 Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10885 P02675 (FGB) T K 407 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10886 P02675 (FGB) G D 430 rs121909622 Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10887 P02675 (FGB) R K 478 rs4220 Benign
10888 P02679 (FGG) E G 77 rs11551835 Benign
10889 P02679 (FGG) Y H 140 rs2066870 Benign
10890 P02679 (FGG) G R 191 rs6063 Benign
10891 P02679 (FGG) R C 301 rs121913087 Benign
10892 P02679 (FGG) R H 301 rs121913088 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10893 P02679 (FGG) T P 303 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10894 P02679 (FGG) G V 318 rs121913089 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10895 P02679 (FGG) D H 327 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10896 P02679 (FGG) N I 334 rs121913090 Benign
10897 P02679 (FGG) M T 336 rs121913091 Benign
10898 P02679 (FGG) N D 345 - Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10899 P02679 (FGG) Q R 355 rs121913092 Benign
10900 P02679 (FGG) D Y 356 rs121913093 Benign
10901 P02679 (FGG) D V 356 rs121913094 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10902 P02679 (FGG) R G 401 rs75848804 Benign
10903 P02679 (FGG) R W 401 rs75848804 Disease: Congenital afibrinogene mia (CAFBN) [MIM:202400]
10904 P02679 (FGG) S P 404 rs587777720 Disease: Dysfibrinoge nemia, congenital (DYSFIBRIN) [MIM:616004]
10905 P02679 (FGG) M V 410 rs6061 Benign
10906 P02689 (PMP2) I N 43 rs879253869 Disease: Charcot- Marie-Tooth disease, demyelinatin g, 1G (CMT1G) [MIM:618279]
10907 P02689 (PMP2) T P 51 - Disease: Charcot- Marie-Tooth disease, demyelinatin g, 1G (CMT1G) [MIM:618279]
10908 P02689 (PMP2) I T 52 - Disease: Charcot- Marie-Tooth disease, demyelinatin g, 1G (CMT1G) [MIM:618279]
10909 P02708 (CHRNA1) V L 177 rs137852807 Disease: Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
10910 P02708 (CHRNA1) G S 198 rs137852801 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10911 P02708 (CHRNA1) V M 201 rs137852799 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10912 P02708 (CHRNA1) R L 254 rs137852809 Disease: Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
10913 P02708 (CHRNA1) N K 262 rs137852798 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10914 P02708 (CHRNA1) F V 278 rs137852805 Disease: Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
10915 P02708 (CHRNA1) V F 294 rs137852803 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10916 P02708 (CHRNA1) T I 299 rs137852800 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10917 P02708 (CHRNA1) F L 301 rs137852806 Disease: Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
10918 P02708 (CHRNA1) S I 314 rs137852802 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10919 P02708 (CHRNA1) V I 330 rs137852804 Disease: Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B) [MIM:608930]
10920 P02708 (CHRNA1) D V 383 rs6739001 Benign
10921 P02708 (CHRNA1) C W 463 rs137852808 Disease: Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A) [MIM:601462]
10922 P02724 (GYPA) E A 13 rs4449373 Benign
10923 P02724 (GYPA) E G 13 rs4449373 Benign
10924 P02724 (GYPA) S L 20 rs7682260 Benign
10925 P02724 (GYPA) T N 23 - Benign
10926 P02724 (GYPA) G D 24 rs7658293 Benign
10927 P02724 (GYPA) G E 24 rs7687256 Benign
10928 P02724 (GYPA) D E 46 - Benign
10929 P02724 (GYPA) T K 47 - Benign
10930 P02724 (GYPA) T M 47 - Benign
10931 P02724 (GYPA) R W 50 - Benign
10932 P02724 (GYPA) S Y 66 rs56077914 Benign
10933 P02724 (GYPA) P S 73 - Benign
10934 P02724 (GYPA) E K 76 - Benign
10935 P02724 (GYPA) T I 77 rs56172553 Benign
10936 P02724 (GYPA) G R 78 rs1800582 Benign
10937 P02724 (GYPA) Q K 82 - Benign
10938 P02724 (GYPA) A P 84 - Benign
10939 P02730 (SLC4A1) P H 27 - Benign
10940 P02730 (SLC4A1) D A 38 rs5035 Benign
10941 P02730 (SLC4A1) D E 45 rs34700496 Benign
10942 P02730 (SLC4A1) K E 56 rs5036 Benign
10943 P02730 (SLC4A1) E K 68 rs13306787 Benign
10944 P02730 (SLC4A1) E D 72 rs13306788 Benign
10945 P02730 (SLC4A1) L M 73 rs781490287 Benign
10946 P02730 (SLC4A1) E K 90 rs28929480 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10947 P02730 (SLC4A1) R S 112 rs5037 Benign
10948 P02730 (SLC4A1) G R 130 rs121912749 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10949 P02730 (SLC4A1) P S 147 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10950 P02730 (SLC4A1) A D 285 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10951 P02730 (SLC4A1) P R 327 rs28931583 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10952 P02730 (SLC4A1) E D 429 rs1048804130 Benign
10953 P02730 (SLC4A1) R W 432 rs373768879 Benign
10954 P02730 (SLC4A1) I F 442 rs5018 Benign
10955 P02730 (SLC4A1) G E 455 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10956 P02730 (SLC4A1) G R 455 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10957 P02730 (SLC4A1) E K 480 rs121912756 Benign
10958 P02730 (SLC4A1) V M 488 rs28931584 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10959 P02730 (SLC4A1) R C 490 rs1398477044 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10960 P02730 (SLC4A1) R H 490 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10961 P02730 (SLC4A1) E K 508 rs45568837 Benign
10962 P02730 (SLC4A1) R C 518 rs868742796 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10963 P02730 (SLC4A1) P L 548 rs879202054 Benign
10964 P02730 (SLC4A1) K N 551 - Benign
10965 P02730 (SLC4A1) T I 552 - Benign
10966 P02730 (SLC4A1) Y H 555 - Benign
10967 P02730 (SLC4A1) V M 557 rs121912743 Benign
10968 P02730 (SLC4A1) P A 561 - Benign
10969 P02730 (SLC4A1) P S 561 - Benign
10970 P02730 (SLC4A1) G A 565 rs551784583 Benign
10971 P02730 (SLC4A1) P A 566 - Benign
10972 P02730 (SLC4A1) P S 566 rs1393742050 Benign
10973 P02730 (SLC4A1) N K 569 - Benign
10974 P02730 (SLC4A1) M L 586 rs5019 Benign
10975 P02730 (SLC4A1) R C 589 rs121912745 Disease: Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
10976 P02730 (SLC4A1) R H 589 rs121912744 Disease: Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
10977 P02730 (SLC4A1) R S 589 rs121912745 Disease: Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
10978 P02730 (SLC4A1) R H 602 rs121912754 Disease: Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590]
10979 P02730 (SLC4A1) G R 609 rs878853002 Disease: Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
10980 P02730 (SLC4A1) S F 613 rs121912746 Disease: Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
10981 P02730 (SLC4A1) R Q 646 rs121912757 Benign
10982 P02730 (SLC4A1) R W 646 rs121912758 Benign
10983 P02730 (SLC4A1) R C 656 rs372514760 Benign
10984 P02730 (SLC4A1) R H 656 rs758868427 Benign
10985 P02730 (SLC4A1) E K 658 rs75731670 Benign
10986 P02730 (SLC4A1) M K 663 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10987 P02730 (SLC4A1) L P 687 rs863225463 Disease: Cryohydrocyt osis (CHC) [MIM:185020]
10988 P02730 (SLC4A1) I V 688 rs5022 Benign
10989 P02730 (SLC4A1) S G 690 rs5023 Benign
10990 P02730 (SLC4A1) G D 701 rs121912748 Disease: Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590]
10991 P02730 (SLC4A1) D Y 705 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10992 P02730 (SLC4A1) L P 707 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10993 P02730 (SLC4A1) G R 714 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10994 P02730 (SLC4A1) S P 731 rs863225461 Disease: Cryohydrocyt osis (CHC) [MIM:185020]
10995 P02730 (SLC4A1) H R 734 rs863225462 Disease: Cryohydrocyt osis (CHC) [MIM:185020]
10996 P02730 (SLC4A1) R Q 760 rs121912755 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10997 P02730 (SLC4A1) R W 760 rs373916826 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10998 P02730 (SLC4A1) G D 771 rs121912741 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
10999 P02730 (SLC4A1) S P 773 rs121912753 Disease: Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590]
11000 P02730 (SLC4A1) I N 783 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11001 P02730 (SLC4A1) R C 808 rs1167814744 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11002 P02730 (SLC4A1) R H 808 rs866727908 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11003 P02730 (SLC4A1) R H 832 rs5025 Benign
11004 P02730 (SLC4A1) H P 834 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11005 P02730 (SLC4A1) T A 837 rs121912750 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11006 P02730 (SLC4A1) T M 837 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11007 P02730 (SLC4A1) T R 837 - Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11008 P02730 (SLC4A1) P L 854 rs2285644 Benign
11009 P02730 (SLC4A1) A D 858 rs121912751 Disease: Renal tubular acidosis, distal, autosomal dominant (AD-dRTA) [MIM:179800]
11010 P02730 (SLC4A1) V I 862 rs5026 Benign
11011 P02730 (SLC4A1) P L 868 rs121912759 Benign
11012 P02730 (SLC4A1) R W 870 rs28931585 Disease: Spherocytosi s 4 (SPH4) [MIM:612653]
11013 P02743 (APCS) E G 155 - Benign
11014 P02743 (APCS) S G 158 - Benign
11015 P02745 (C1QA) E K 23 rs17887074 Benign
11016 P02746 (C1QB) G D 42 - Disease: Complement component C1q deficiency (C1QD) [MIM:613652]
11017 P02747 (C1QC) G R 34 rs200206736 Disease: Complement component C1q deficiency (C1QD) [MIM:613652]
11018 P02748 (C9) R W 5 rs700233 Benign
11019 P02748 (C9) C G 119 rs121909593 Disease: Complement component 9 deficiency (C9D) [MIM:613825]
11020 P02748 (C9) D Y 127 rs696763 Benign
11021 P02748 (C9) P S 167 rs34882957 Disease: Macular degeneration , age-related, 15 (ARMD15) [MIM:615591]
11022 P02748 (C9) I V 203 rs13361416 Benign
11023 P02748 (C9) T S 279 rs34625111 Benign
11024 P02748 (C9) S T 427 rs34421659 Benign
11025 P02749 (APOH) V A 5 rs3826358 Benign
11026 P02749 (APOH) S N 107 rs1801692 Benign
11027 P02749 (APOH) R H 154 rs8178847 Benign
11028 P02749 (APOH) V L 266 rs4581 Benign
11029 P02749 (APOH) C G 325 rs1801689 Benign
11030 P02749 (APOH) W S 335 rs1801690 Benign
11031 P02750 (LRG1) G S 64 rs7251081 Benign
11032 P02750 (LRG1) P S 133 rs966384 Benign
11033 P02751 (FN1) Q L 15 rs1250259 Benign
11034 P02751 (FN1) C F 87 rs1553669703 Disease: Spondylometa physeal dysplasia, corner fracture type (SMDCF) [MIM:184255]
11035 P02751 (FN1) C R 123 rs1553667072 Disease: Spondylometa physeal dysplasia, corner fracture type (SMDCF) [MIM:184255]
11036 P02751 (FN1) C W 225 - Disease: Spondylometa physeal dysplasia, corner fracture type (SMDCF) [MIM:184255]
11037 P02751 (FN1) Y D 240 rs1553659131 Disease: Spondylometa physeal dysplasia, corner fracture type (SMDCF) [MIM:184255]
11038 P02751 (FN1) C G 260 rs1553658926 Disease: Spondylometa physeal dysplasia, corner fracture type (SMDCF) [MIM:184255]
11039 P02751 (FN1) T P 817 rs2577301 Benign
11040 P02751 (FN1) Y C 973 rs137854488 Disease: Glomerulopat hy with fibronectin deposits 2 (GFND2) [MIM:601894]
11041 P02751 (FN1) S R 1558 rs11687611 Benign
11042 P02751 (FN1) W R 1925 rs137854486 Disease: Glomerulopat hy with fibronectin deposits 2 (GFND2) [MIM:601894]
11043 P02751 (FN1) L R 1974 rs137854487 Disease: Glomerulopat hy with fibronectin deposits 2 (GFND2) [MIM:601894]
11044 P02751 (FN1) I V 2051 rs1250209 Benign
11045 P02751 (FN1) I V 2212 rs17449032 Benign
11046 P02751 (FN1) V I 2261 rs1250209 Benign
11047 P02753 (RBP4) I N 59 rs121918584 Disease: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]
11048 P02753 (RBP4) A T 73 rs794726862 Disease: Microphthalm ia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428]
11049 P02753 (RBP4) A T 75 rs794726861 Disease: Microphthalm ia, isolated, with coloboma, 10 (MCOPCB10) [MIM:616428]
11050 P02753 (RBP4) G D 93 rs121918585 Disease: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]
11051 P02763 (ORM1) Q R 38 - Benign
11052 P02763 (ORM1) R C 167 rs3182034 Benign
11053 P02763 (ORM1) V M 174 rs1126801 Benign
11054 P02765 (AHSG) V L 142 rs7633550 Benign
11055 P02765 (AHSG) M T 248 rs4917 Benign
11056 P02765 (AHSG) S T 256 rs4918 Benign
11057 P02765 (AHSG) D N 276 rs70961709 Benign
11058 P02765 (AHSG) R C 317 rs35457250 Benign
11059 P02766 (TTR) G S 26 rs1800458 Benign
11060 P02766 (TTR) C R 30 rs121918083 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11061 P02766 (TTR) L P 32 rs121918094 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11062 P02766 (TTR) M I 33 - Benign
11063 P02766 (TTR) D E 38 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11064 P02766 (TTR) D G 38 rs121918098 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11065 P02766 (TTR) V I 40 rs121918093 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11066 P02766 (TTR) S N 43 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11067 P02766 (TTR) P S 44 rs11541790 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11068 P02766 (TTR) V M 48 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11069 P02766 (TTR) V A 50 rs79977247 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11070 P02766 (TTR) V G 50 rs79977247 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11071 P02766 (TTR) V L 50 rs28933979 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11072 P02766 (TTR) V M 50 rs28933979 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11073 P02766 (TTR) F I 53 rs121918068 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11074 P02766 (TTR) F L 53 rs121918068 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11075 P02766 (TTR) F V 53 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11076 P02766 (TTR) R T 54 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11077 P02766 (TTR) K N 55 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11078 P02766 (TTR) A P 56 rs121918077 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11079 P02766 (TTR) D A 58 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11080 P02766 (TTR) D V 58 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11081 P02766 (TTR) W L 61 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11082 P02766 (TTR) E D 62 rs11541796 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11083 P02766 (TTR) E G 62 rs11541796 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11084 P02766 (TTR) F S 64 rs104894665 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11085 P02766 (TTR) A D 65 rs730881169 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11086 P02766 (TTR) A S 65 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11087 P02766 (TTR) A T 65 rs121918078 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11088 P02766 (TTR) G A 67 rs121918090 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11089 P02766 (TTR) G E 67 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11090 P02766 (TTR) G R 67 rs387906523 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11091 P02766 (TTR) G V 67 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11092 P02766 (TTR) T A 69 rs121918081 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11093 P02766 (TTR) T I 69 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11094 P02766 (TTR) S I 70 rs121918080 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11095 P02766 (TTR) S R 70 rs386134269 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11096 P02766 (TTR) S P 72 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11097 P02766 (TTR) G E 73 rs121918097 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11098 P02766 (TTR) E G 74 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11099 P02766 (TTR) E K 74 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11100 P02766 (TTR) L P 75 rs121918079 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11101 P02766 (TTR) L Q 75 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11102 P02766 (TTR) L H 78 rs121918069 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11103 P02766 (TTR) L R 78 rs121918069 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11104 P02766 (TTR) T K 79 rs730881163 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11105 P02766 (TTR) T A 80 rs121918070 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11106 P02766 (TTR) E G 81 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11107 P02766 (TTR) E K 81 rs121918086 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11108 P02766 (TTR) F L 84 rs121918091 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11109 P02766 (TTR) I L 88 rs121918085 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11110 P02766 (TTR) Y H 89 rs121918100 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11111 P02766 (TTR) K N 90 rs267607160 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11112 P02766 (TTR) V A 91 rs121918084 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11113 P02766 (TTR) I V 93 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11114 P02766 (TTR) D H 94 rs730881164 Benign
11115 P02766 (TTR) S Y 97 rs121918071 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11116 P02766 (TTR) Y F 98 rs958191819 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11117 P02766 (TTR) I N 104 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11118 P02766 (TTR) I S 104 rs121918072 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11119 P02766 (TTR) I T 104 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11120 P02766 (TTR) E K 109 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11121 P02766 (TTR) E Q 109 rs121918082 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11122 P02766 (TTR) H N 110 rs121918074 Benign
11123 P02766 (TTR) A S 111 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11124 P02766 (TTR) A G 117 rs121918087 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11125 P02766 (TTR) A S 117 rs267607161 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11126 P02766 (TTR) G S 121 rs755337715 Benign
11127 P02766 (TTR) P R 122 - Benign
11128 P02766 (TTR) R C 124 rs745834030 Benign
11129 P02766 (TTR) R H 124 rs121918095 Benign
11130 P02766 (TTR) T N 126 rs1456101911 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11131 P02766 (TTR) I M 127 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11132 P02766 (TTR) I V 127 rs121918089 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11133 P02766 (TTR) A T 129 rs267607159 Disease: Hyperthyroxi nemia, dystransthyr etinemic (DTTRH) [MIM:145680]
11134 P02766 (TTR) L M 131 rs121918073 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11135 P02766 (TTR) Y C 134 rs121918075 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11136 P02766 (TTR) Y H 134 rs121918088 Disease: Carpal tunnel syndrome 1 (CTS1) [MIM:115430]
11137 P02766 (TTR) Y S 136 rs730881167 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11138 P02766 (TTR) T M 139 rs28933981 Benign
11139 P02766 (TTR) A S 140 rs876658108 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11140 P02766 (TTR) V A 142 - Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11141 P02766 (TTR) V I 142 rs76992529 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11142 P02766 (TTR) N S 144 rs144965179 Disease: Amyloidosis, transthyreti n-related (AMYL-TTR) [MIM:105210]
11143 P02768 (ALB) R C 23 rs80008208 Benign
11144 P02768 (ALB) R H 23 rs72552709 Benign
11145 P02768 (ALB) R L 24 rs74821926 Benign
11146 P02768 (ALB) R P 24 rs74821926 Benign
11147 P02768 (ALB) R Q 24 rs74821926 Benign
11148 P02768 (ALB) D V 25 rs75353611 Benign
11149 P02768 (ALB) H Q 27 rs76285851 Benign
11150 P02768 (ALB) H Y 27 rs141733599 Benign
11151 P02768 (ALB) F Y 73 - Benign
11152 P02768 (ALB) E K 84 rs77050410 Benign
11153 P02768 (ALB) D N 87 rs78574148 Benign
11154 P02768 (ALB) L P 90 rs77892378 Disease: Hyperthyroxi nemia, familial dysalbuminem ic (FDAH) [MIM:615999]
11155 P02768 (ALB) E K 106 rs80296402 Benign
11156 P02768 (ALB) E G 121 - Benign
11157 P02768 (ALB) R G 138 rs77238412 Benign
11158 P02768 (ALB) E K 143 rs75522063 Benign
11159 P02768 (ALB) V E 146 rs77752336 Benign
11160 P02768 (ALB) H R 152 rs80095457 Benign
11161 P02768 (ALB) C F 201 rs77656691 Benign
11162 P02768 (ALB) A T 215 rs3210154 Benign
11163 P02768 (ALB) A V 215 rs3204504 Benign
11164 P02768 (ALB) Q L 220 rs3210163 Benign
11165 P02768 (ALB) R H 242 rs75002628 Disease: Hyperthyroxi nemia, familial dysalbuminem ic (FDAH) [MIM:615999]
11166 P02768 (ALB) R P 242 rs75002628 Disease: Hyperthyroxi nemia, familial dysalbuminem ic (FDAH) [MIM:615999]
11167 P02768 (ALB) K Q 249 rs79804069 Benign
11168 P02768 (ALB) K E 264 rs79377490 Benign
11169 P02768 (ALB) Q R 292 rs80002911 Benign
11170 P02768 (ALB) D G 293 rs79744198 Benign
11171 P02768 (ALB) K N 300 rs74718349 Benign
11172 P02768 (ALB) K N 337 rs72552710 Benign
11173 P02768 (ALB) D G 338 rs76242087 Benign
11174 P02768 (ALB) D V 338 rs76242087 Benign
11175 P02768 (ALB) N K 342 rs77544362 Benign
11176 P02768 (ALB) A T 344 rs78953271 Benign
11177 P02768 (ALB) E K 345 rs72552711 Benign
11178 P02768 (ALB) E K 357 rs77354753 Benign
11179 P02768 (ALB) E K 378 rs76593094 Benign
11180 P02768 (ALB) E K 382 rs75791663 Benign
11181 P02768 (ALB) K N 383 rs75069738 Benign
11182 P02768 (ALB) D H 389 rs77187142 Benign
11183 P02768 (ALB) D V 389 rs78538497 Benign
11184 P02768 (ALB) K E 396 rs78166690 Benign
11185 P02768 (ALB) D N 399 rs77514449 Benign
11186 P02768 (ALB) E K 400 rs79047363 Benign
11187 P02768 (ALB) E Q 400 rs79047363 Benign
11188 P02768 (ALB) E K 406 rs76483862 Benign
11189 P02768 (ALB) E K 420 - Benign
11190 P02768 (ALB) R C 434 rs78575701 Benign
11191 P02768 (ALB) K E 490 rs1063469 Benign
11192 P02768 (ALB) E K 503 rs80259813 Benign
11193 P02768 (ALB) D N 518 rs75920790 Benign
11194 P02768 (ALB) E K 525 rs75523493 Benign
11195 P02768 (ALB) E K 529 rs74826639 Benign
11196 P02768 (ALB) V M 557 rs78284052 Benign
11197 P02768 (ALB) K E 560 rs77645174 Benign
11198 P02768 (ALB) K E 565 rs80345158 Benign
11199 P02768 (ALB) D A 574 rs79738788 Benign
11200 P02768 (ALB) D G 574 rs79738788 Benign
11201 P02768 (ALB) K E 584 rs76671808 Benign
11202 P02768 (ALB) D N 587 rs76587671 Benign
11203 P02768 (ALB) E K 589 rs75709682 Benign
11204 P02768 (ALB) E K 594 rs79228041 Benign
11205 P02768 (ALB) K E 597 rs80106970 Benign
11206 P02768 (ALB) K N 598 rs75738598 Benign
11207 P02771 (AFP) K Q 187 rs35765619 Benign
11208 P02771 (AFP) A G 570 rs7790 Benign
11209 P02774 (GC) D E 432 rs7041 Benign
11210 P02774 (GC) T K 436 rs4588 Benign
11211 P02774 (GC) H C 445 - Benign
11212 P02774 (GC) H R 445 rs9016 Benign
11213 P02786 (TFRC) Y H 20 rs863225436 Disease: Immunodefici ency 46 (IMD46) [MIM:616740]
11214 P02786 (TFRC) G S 142 rs3817672 Benign
11215 P02786 (TFRC) L V 212 rs41301381 Benign
11216 P02786 (TFRC) G S 420 rs41295879 Benign
11217 P02786 (TFRC) R H 677 rs41298067 Benign
11218 P02787 (TF) R L 42 rs41298293 Benign
11219 P02787 (TF) S R 55 rs8177318 Benign
11220 P02787 (TF) A V 76 rs41298977 Benign
11221 P02787 (TF) D N 77 rs121918681 Disease: Atransferrin emia (ATRAF) [MIM:209300]
11222 P02787 (TF) G S 142 rs1799830 Benign
11223 P02787 (TF) G S 277 rs1799899 Benign
11224 P02787 (TF) D G 296 rs8177238 Benign
11225 P02787 (TF) H R 319 rs41295774 Benign
11226 P02787 (TF) W C 377 rs1804498 Benign
11227 P02787 (TF) I V 448 rs2692696 Benign
11228 P02787 (TF) A P 477 rs121918679 Disease: Atransferrin emia (ATRAF) [MIM:209300]
11229 P02787 (TF) G V 562 rs41296590 Benign
11230 P02787 (TF) P S 589 rs1049296 Benign
11231 P02787 (TF) T P 645 rs1130537 Benign
11232 P02787 (TF) K E 646 rs121918678 Benign
11233 P02787 (TF) G E 671 rs121918677 Benign
11234 P02788 (LTF) A T 29 rs1126477 Benign
11235 P02788 (LTF) K R 47 rs1126478 Benign
11236 P02788 (LTF) I T 148 rs1126479 Benign
11237 P02788 (LTF) G C 422 rs1042055 Benign
11238 P02788 (LTF) E D 579 rs2073495 Benign
11239 P02790 (HPX) D N 52 rs10839564 Benign
11240 P02790 (HPX) R W 83 rs12117 Benign
11241 P02792 (FTL) T I 30 rs397514540 Disease: Hyperferriti nemia with or without cataract (HRFTC) [MIM:600886]
11242 P02792 (FTL) A T 96 rs104894685 Disease: Neurodegener ation with brain iron accumulation 3 (NBIA3) [MIM:606159]
11243 P02795 (MT2A) A V 42 rs35109646 Benign
11244 P02810 (PRH1) D N 20 rs1130404 Benign
11245 P02810 (PRH1) I L 42 rs2923234 Benign
11246 P02810 (PRH1) D N 66 rs1049112 Benign
11247 P02810 (PRH1) R C 119 rs200488155 Benign
11248 P02810 (PRH1) Q K 163 rs74062407 Benign
11249 P02812 (PRB2) Q R 233 rs34305575 Benign
11250 P02812 (PRB2) S P 274 rs10845349 Benign
11251 P02818 (BGLAP) R Q 94 rs34702397 Benign
11252 P03372 (ESR1) G S 77 rs9340773 Benign
11253 P03372 (ESR1) G C 160 rs149308960 Benign
11254 P03372 (ESR1) Q H 375 rs397509428 Disease: Estrogen resistance (ESTRR) [MIM:615363]
11255 P03372 (ESR1) R H 394 rs1131692059 Disease: Estrogen resistance (ESTRR) [MIM:615363]
11256 P03886 (MT-ND1) A T 4 rs2853516 Benign
11257 P03886 (MT-ND1) M T 31 rs201212638 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11258 P03886 (MT-ND1) M V 31 rs199476120 Disease: Alzheimer disease mitochondria l (AD-MT) [MIM:502500]
11259 P03886 (MT-ND1) A T 52 rs199476118 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11260 P03886 (MT-ND1) T A 87 rs2854133 Benign
11261 P03886 (MT-ND1) T A 168 rs2854135 Benign
11262 P03886 (MT-ND1) S P 205 - Benign
11263 P03886 (MT-ND1) Y C 255 - Benign
11264 P03886 (MT-ND1) Y C 277 rs199476121 Benign
11265 P03886 (MT-ND1) L P 288 - Benign
11266 P03891 (MT-ND2) P L 42 - Benign
11267 P03891 (MT-ND2) V I 43 rs1117207 Benign
11268 P03891 (MT-ND2) I T 57 rs41510547 Benign
11269 P03891 (MT-ND2) Q R 63 - Benign
11270 P03891 (MT-ND2) I V 69 - Benign
11271 P03891 (MT-ND2) N S 88 rs201854167 Benign
11272 P03891 (MT-ND2) T A 119 - Benign
11273 P03891 (MT-ND2) S P 148 - Benign
11274 P03891 (MT-ND2) N S 150 rs879058895 Benign
11275 P03891 (MT-ND2) N D 150 rs28357980 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11276 P03891 (MT-ND2) I T 159 - Benign
11277 P03891 (MT-ND2) T A 185 - Benign
11278 P03891 (MT-ND2) L M 237 rs28357984 Benign
11279 P03891 (MT-ND2) G S 259 rs199476115 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11280 P03891 (MT-ND2) A T 265 rs370378529 Benign
11281 P03891 (MT-ND2) A V 265 rs41320049 Benign
11282 P03891 (MT-ND2) I T 278 rs878853115 Benign
11283 P03891 (MT-ND2) F L 325 rs3020601 Benign
11284 P03891 (MT-ND2) A T 331 rs3021088 Benign
11285 P03891 (MT-ND2) A S 331 - Disease: Alzheimer disease mitochondria l (AD-MT) [MIM:502500]
11286 P03891 (MT-ND2) T A 333 - Benign
11287 P03897 (MT-ND3) N D 10 rs28358274 Benign
11288 P03897 (MT-ND3) S P 34 rs199476117 Disease: Mitochondria l complex I deficiency, mitochondria l type 1 (MC1DM1) [MIM:500014]
11289 P03897 (MT-ND3) S P 45 rs267606890 Disease: Mitochondria l complex I deficiency, mitochondria l type 1 (MC1DM1) [MIM:500014]
11290 P03897 (MT-ND3) A T 47 rs267606891 Disease: Mitochondria l complex I deficiency, mitochondria l type 1 (MC1DM1) [MIM:500014]
11291 P03897 (MT-ND3) M V 53 - Benign
11292 P03897 (MT-ND3) T A 114 rs2853826 Benign
11293 P03901 (MT-ND4L) M I 36 - Benign
11294 P03901 (MT-ND4L) N S 57 - Benign
11295 P03901 (MT-ND4L) I T 61 - Benign
11296 P03901 (MT-ND4L) V A 65 rs193302933 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11297 P03905 (MT-ND4) A P 79 - Benign
11298 P03905 (MT-ND4) T P 109 - Benign
11299 P03905 (MT-ND4) T A 109 rs199476113 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11300 P03905 (MT-ND4) I T 132 - Benign
11301 P03905 (MT-ND4) M T 294 - Benign
11302 P03905 (MT-ND4) V I 313 rs200873900 Disease: Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]
11303 P03905 (MT-ND4) R H 340 rs199476112 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11304 P03915 (MT-ND5) P S 17 - Benign
11305 P03915 (MT-ND5) F S 95 - Benign
11306 P03915 (MT-ND5) S P 99 - Benign
11307 P03915 (MT-ND5) F L 124 rs267606893 Disease: Leigh syndrome (LS) [MIM:256000]
11308 P03915 (MT-ND5) E G 145 rs267606894 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11309 P03915 (MT-ND5) G D 146 - Benign
11310 P03915 (MT-ND5) A V 160 - Benign
11311 P03915 (MT-ND5) N S 165 - Benign
11312 P03915 (MT-ND5) A V 171 rs267606899 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11313 P03915 (MT-ND5) T P 211 - Benign
11314 P03915 (MT-ND5) A T 236 rs267606898 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11315 P03915 (MT-ND5) M L 237 rs267606895 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11316 P03915 (MT-ND5) S C 250 rs267606896 Disease: Leigh syndrome (LS) [MIM:256000]
11317 P03915 (MT-ND5) I V 257 rs2853501 Benign
11318 P03915 (MT-ND5) F S 304 - Benign
11319 P03915 (MT-ND5) M V 314 rs2853502 Benign
11320 P03915 (MT-ND5) T A 331 - Benign
11321 P03915 (MT-ND5) D N 393 rs267606897 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11322 P03915 (MT-ND5) A T 458 rs28359178 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11323 P03915 (MT-ND5) G E 465 rs387906425 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11324 P03915 (MT-ND5) A T 475 rs386420024 Benign
11325 P03915 (MT-ND5) D G 503 - Benign
11326 P03923 (MT-ND6) I M 26 rs387906424 Disease: Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]
11327 P03923 (MT-ND6) V A 31 rs41354845 Benign
11328 P03923 (MT-ND6) I V 33 rs386829219 Benign
11329 P03923 (MT-ND6) G S 36 rs397515506 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11330 P03923 (MT-ND6) I V 58 rs201327354 Benign
11331 P03923 (MT-ND6) Y C 59 rs869025186 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11332 P03923 (MT-ND6) L S 60 rs199476106 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11333 P03923 (MT-ND6) M V 63 rs199476109 Disease: Leigh syndrome (LS) [MIM:256000]
11334 P03923 (MT-ND6) M I 64 rs199476108 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11335 P03923 (MT-ND6) M V 64 rs199476104 Disease: Leber hereditary optic neuropathy (LHON) [MIM:535000]
11336 P03923 (MT-ND6) A V 72 rs199476105 Disease: Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]
11337 P03923 (MT-ND6) A V 74 rs199476107 Disease: Mitochondria l encephalomyo pathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]
11338 P03923 (MT-ND6) Y C 165 rs200933339 Benign
11339 P03928 (MT-ATP8) L P 17 - Benign
11340 P03928 (MT-ATP8) F S 21 - Benign
11341 P03928 (MT-ATP8) M T 28 rs879056797 Benign
11342 P03928 (MT-ATP8) W R 55 rs387906422 Disease: Mitochondria l complex V deficiency, mitochondria l 2 (MC5DM2) [MIM:516070]
11343 P03950 (ANG) F S 12 - Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11344 P03950 (ANG) P S 20 - Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11345 P03950 (ANG) Q L 36 rs121909535 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11346 P03950 (ANG) Y H 38 rs1032422334 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11347 P03950 (ANG) K E 41 rs121909537 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11348 P03950 (ANG) K I 41 rs121909536 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11349 P03950 (ANG) D G 46 rs1440927797 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11350 P03950 (ANG) S N 52 rs121909542 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11351 P03950 (ANG) R K 55 rs121909538 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11352 P03950 (ANG) C W 63 rs121909539 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11353 P03950 (ANG) K I 64 rs121909540 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11354 P03950 (ANG) I V 70 rs121909541 Benign
11355 P03950 (ANG) K E 84 rs17560 Benign
11356 P03950 (ANG) P L 136 rs121909543 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11357 P03950 (ANG) V I 137 rs121909544 Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11358 P03950 (ANG) H R 138 - Disease: Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
11359 P03951 (F11) F S 30 - Disease: Factor XI deficiency (FA11D) [MIM:612416]
11360 P03951 (F11) G R 32 rs281875259 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11361 P03951 (F11) D H 34 rs281875267 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11362 P03951 (F11) A T 43 rs281875264 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11363 P03951 (F11) C F 46 rs281875271 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11364 P03951 (F11) T I 51 rs281875252 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11365 P03951 (F11) T P 51 rs281875243 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11366 P03951 (F11) H Q 53 rs281875261 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11367 P03951 (F11) C R 56 rs121965069 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11368 P03951 (F11) A V 63 rs281875244 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11369 P03951 (F11) P L 66 rs5968 Benign
11370 P03951 (F11) K R 101 rs281875272 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11371 P03951 (F11) A T 109 rs768474112 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11372 P03951 (F11) C Y 140 rs281875256 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11373 P03951 (F11) Y C 151 rs281875273 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11374 P03951 (F11) D N 216 - Disease: Factor XI deficiency (FA11D) [MIM:612416]
11375 P03951 (F11) D Y 222 rs281875245 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11376 P03951 (F11) R Q 228 rs281875246 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11377 P03951 (F11) F L 241 rs281875265 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11378 P03951 (F11) Q R 244 rs5969 Benign
11379 P03951 (F11) W C 246 rs281875279 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11380 P03951 (F11) R T 252 rs281875260 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11381 P03951 (F11) C Y 255 rs281875277 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11382 P03951 (F11) G E 263 rs281875274 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11383 P03951 (F11) S N 266 rs145168351 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11384 P03951 (F11) K I 270 rs121965070 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11385 P03951 (F11) S C 276 rs281875247 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11386 P03951 (F11) G D 277 rs281875248 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11387 P03951 (F11) F L 301 rs121965064 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11388 P03951 (F11) I F 308 rs5972 Benign
11389 P03951 (F11) E K 315 rs281875257 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11390 P03951 (F11) L P 320 rs281875268 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11391 P03951 (F11) T I 322 rs281875269 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11392 P03951 (F11) R C 326 rs28934608 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11393 P03951 (F11) T I 331 rs281875253 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11394 P03951 (F11) C F 339 rs5967 Benign
11395 P03951 (F11) E K 341 rs281875270 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11396 P03951 (F11) L P 360 rs281875254 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11397 P03951 (F11) W R 399 rs1800439 Benign
11398 P03951 (F11) W R 401 rs281875262 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11399 P03951 (F11) V M 403 rs281875266 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11400 P03951 (F11) T N 404 rs121965067 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11401 P03951 (F11) G V 418 rs121965071 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11402 P03951 (F11) A V 430 rs121965068 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11403 P03951 (F11) I K 454 rs281875241 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11404 P03951 (F11) F V 460 rs121965065 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11405 P03951 (F11) I S 481 rs281875242 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11406 P03951 (F11) T I 493 rs1554083754 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11407 P03951 (F11) S P 503 rs140068026 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11408 P03951 (F11) D G 506 rs281875258 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11409 P03951 (F11) Y H 511 rs281875278 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11410 P03951 (F11) C F 514 rs281875249 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11411 P03951 (F11) D E 526 rs281875263 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11412 P03951 (F11) P L 538 rs139695003 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11413 P03951 (F11) E K 543 rs142952627 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11414 P03951 (F11) H R 552 rs369935706 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11415 P03951 (F11) E K 565 rs281875275 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11416 P03951 (F11) S L 575 rs281875250 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11417 P03951 (F11) W S 587 rs121965072 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11418 P03951 (F11) S R 594 rs28934609 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11419 P03951 (F11) E K 597 rs281875251 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11420 P03951 (F11) Y H 608 rs281875255 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11421 P03951 (F11) I S 618 rs281875276 Disease: Factor XI deficiency (FA11D) [MIM:612416]
11422 P03952 (KLKB1) G R 123 rs121964952 Disease: Prekallikrei n deficiency (PKK deficiency) [MIM:612423]
11423 P03952 (KLKB1) N S 143 rs3733402 Disease: Prekallikrei n deficiency (PKK deficiency) [MIM:612423]
11424 P03952 (KLKB1) A T 178 rs4253257 Benign
11425 P03952 (KLKB1) H Q 202 rs4253373 Benign
11426 P03952 (KLKB1) H P 208 rs145640112 Benign
11427 P03952 (KLKB1) A E 210 rs2278542 Benign
11428 P03952 (KLKB1) S C 269 rs4253376 Benign
11429 P03952 (KLKB1) F V 311 rs4253377 Benign
11430 P03952 (KLKB1) T A 358 rs4253379 Benign
11431 P03952 (KLKB1) S A 381 rs4253301 Benign
11432 P03952 (KLKB1) Q P 442 rs4253316 Benign
11433 P03952 (KLKB1) C Y 548 rs121964951 Disease: Prekallikrei n deficiency (PKK deficiency) [MIM:612423]
11434 P03952 (KLKB1) R Q 560 rs4253325 Benign
11435 P03956 (MMP1) Q P 29 rs554499 Benign
11436 P03956 (MMP1) I V 191 rs17879973 Benign
11437 P03956 (MMP1) D G 252 rs513964 Benign
11438 P03956 (MMP1) R S 262 rs12282811 Benign
11439 P03956 (MMP1) R Q 405 rs17879165 Benign
11440 P03956 (MMP1) S T 406 rs17884120 Benign
11441 P03971 (AMH) V G 12 rs149082963 Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11442 P03971 (AMH) S I 49 rs10407022 Benign
11443 P03971 (AMH) L P 70 - Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11444 P03971 (AMH) G V 101 - Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11445 P03971 (AMH) R W 123 rs569914235 Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11446 P03971 (AMH) Y C 167 rs371874189 Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11447 P03971 (AMH) Q E 185 rs200523942 Benign
11448 P03971 (AMH) R C 194 rs777003373 Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11449 P03971 (AMH) Q R 325 rs140765565 Benign
11450 P03971 (AMH) V A 477 rs1358787117 Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11451 P03971 (AMH) H Q 506 rs138571039 Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11452 P03971 (AMH) V A 515 rs10417628 Benign
11453 P03971 (AMH) C Y 525 - Disease: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
11454 P03999 (OPN1SW) G R 79 rs104894031 Disease: Tritan color blindness (CBT) [MIM:190900]
11455 P03999 (OPN1SW) T I 190 rs1190183515 Disease: Tritan color blindness (CBT) [MIM:190900]
11456 P03999 (OPN1SW) S P 214 rs104894032 Disease: Tritan color blindness (CBT) [MIM:190900]
11457 P03999 (OPN1SW) P S 264 rs104894033 Disease: Tritan color blindness (CBT) [MIM:190900]
11458 P04000 (OPN1LW) I V 111 rs1065421 Benign
11459 P04000 (OPN1LW) S Y 116 rs1065422 Benign
11460 P04000 (OPN1LW) L M 153 rs713 Benign
11461 P04000 (OPN1LW) S A 180 rs949431 Benign
11462 P04000 (OPN1LW) C R 203 rs121434621 Disease: Blue cone monochromacy (BCM) [MIM:303700]
11463 P04000 (OPN1LW) I T 230 rs148583295 Benign
11464 P04000 (OPN1LW) I V 274 rs2315122 Benign
11465 P04000 (OPN1LW) A P 298 rs1065440 Benign
11466 P04000 (OPN1LW) P L 307 rs782797093 Disease: Blue cone monochromacy (BCM) [MIM:303700]
11467 P04000 (OPN1LW) G E 338 rs104894913 Disease: Colorblindne ss, partial, protan series (CBP) [MIM:303900]
11468 P04001 (OPN1MW) N K 94 rs104894915 Disease: Colorblindne ss, partial, deutan series (CBD) [MIM:303800]
11469 P04001 (OPN1MW) W R 177 rs267606927 Disease: Cone dystrophy 5 (COD5) [MIM:303700]
11470 P04001 (OPN1MW) C R 203 rs104894914 Disease: Colorblindne ss, partial, deutan series (CBD) [MIM:303800]
11471 P04001 (OPN1MW) R Q 330 rs104894916 Disease: Colorblindne ss, partial, deutan series (CBD) [MIM:303800]
11472 P04003 (C4BPA) P Q 4 rs55867570 Benign
11473 P04003 (C4BPA) A V 60 rs17020956 Benign
11474 P04003 (C4BPA) R H 240 rs45574833 Benign
11475 P04003 (C4BPA) I T 300 rs4844573 Benign
11476 P04003 (C4BPA) Y H 357 - Benign
11477 P04003 (C4BPA) W L 473 rs1801341 Benign
11478 P04004 (VTN) A S 122 rs2227741 Benign
11479 P04004 (VTN) R Q 268 rs2227723 Benign
11480 P04004 (VTN) T M 400 rs704 Benign
11481 P04035 (HMGCR) I V 638 rs5908 Benign
11482 P04049 (RAF1) A T 237 rs587777588 Disease: Cardiomyopat hy, dilated 1NN (CMD1NN) [MIM:615916]
11483 P04049 (RAF1) R S 256 rs397516826 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11484 P04049 (RAF1) S L 257 rs80338796 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11485 P04049 (RAF1) S F 259 rs397516827 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11486 P04049 (RAF1) T I 260 rs869025501 Benign
11487 P04049 (RAF1) T R 260 - Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11488 P04049 (RAF1) P A 261 rs121434594 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11489 P04049 (RAF1) P L 261 rs397516828 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11490 P04049 (RAF1) P S 261 rs121434594 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11491 P04049 (RAF1) V A 263 rs397516830 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11492 P04049 (RAF1) P L 308 rs5746220 Benign
11493 P04049 (RAF1) T A 310 rs778155315 Disease: Cardiomyopat hy, dilated 1NN (CMD1NN) [MIM:615916]
11494 P04049 (RAF1) P A 332 rs1057403865 Disease: Cardiomyopat hy, dilated 1NN (CMD1NN) [MIM:615916]
11495 P04049 (RAF1) D G 486 rs397516815 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11496 P04049 (RAF1) D N 486 rs80338798 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11497 P04049 (RAF1) T I 491 rs80338799 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11498 P04049 (RAF1) T R 491 rs80338799 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11499 P04049 (RAF1) L P 603 rs587777586 Disease: Cardiomyopat hy, dilated 1NN (CMD1NN) [MIM:615916]
11500 P04049 (RAF1) S T 612 rs1448392469 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11501 P04049 (RAF1) L V 613 rs80338797 Disease: Noonan syndrome 5 (NS5) [MIM:611553]
11502 P04049 (RAF1) H R 626 rs1553609795 Disease: Cardiomyopat hy, dilated 1NN (CMD1NN) [MIM:615916]
11503 P04049 (RAF1) T M 641 rs587777587 Disease: Cardiomyopat hy, dilated 1NN (CMD1NN) [MIM:615916]
11504 P04053 (DNTT) R G 112 rs6584066 Benign
11505 P04054 (PLA2G1B) D A 16 rs5632 Benign
11506 P04054 (PLA2G1B) N K 89 rs5636 Benign
11507 P04054 (PLA2G1B) N T 89 rs5635 Benign
11508 P04062 (GBA) K E 46 rs142761046 Benign
11509 P04062 (GBA) V L 54 rs121908302 Disease: Gaucher disease (GD) [MIM:230800]
11510 P04062 (GBA) C S 55 rs773007510 Disease: Gaucher disease (GD) [MIM:230800]
11511 P04062 (GBA) C W 62 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11512 P04062 (GBA) D N 63 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11513 P04062 (GBA) F V 76 - Disease: Gaucher disease (GD) [MIM:230800]
11514 P04062 (GBA) E K 80 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11515 P04062 (GBA) T I 82 rs1141811 Disease: Gaucher disease (GD) [MIM:230800]
11516 P04062 (GBA) G E 85 rs77829017 Disease: Gaucher disease (GD) [MIM:230800]
11517 P04062 (GBA) R Q 87 rs78769774 Disease: Gaucher disease (GD) [MIM:230800]
11518 P04062 (GBA) R W 87 rs1141814 Disease: Gaucher disease (GD) [MIM:230800]
11519 P04062 (GBA) M T 92 rs1141815 Benign
11520 P04062 (GBA) K N 118 rs121908312 Disease: Gaucher disease (GD) [MIM:230800]
11521 P04062 (GBA) A T 129 - Disease: Gaucher disease (GD) [MIM:230800]
11522 P04062 (GBA) S L 146 rs758447515 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11523 P04062 (GBA) G E 152 - Disease: Gaucher disease (GD) [MIM:230800]
11524 P04062 (GBA) N D 156 - Disease: Gaucher disease (GD) [MIM:230800]
11525 P04062 (GBA) I S 158 rs77834747 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11526 P04062 (GBA) I T 158 rs77834747 Disease: Gaucher disease (GD) [MIM:230800]
11527 P04062 (GBA) R Q 159 rs79653797 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11528 P04062 (GBA) R W 159 rs439898 Disease: Gaucher disease (GD) [MIM:230800]
11529 P04062 (GBA) P L 161 rs79637617 Disease: Gaucher disease (GD) [MIM:230800]
11530 P04062 (GBA) P S 161 rs121908299 Disease: Gaucher disease (GD) [MIM:230800]
11531 P04062 (GBA) M V 162 rs377325220 Disease: Gaucher disease (GD) [MIM:230800]
11532 P04062 (GBA) D V 166 rs79796061 Disease: Gaucher disease (GD) [MIM:230800]
11533 P04062 (GBA) R C 170 rs398123530 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11534 P04062 (GBA) R L 170 rs80356763 Disease: Gaucher disease (GD) [MIM:230800]
11535 P04062 (GBA) T I 173 rs78657146 Disease: Gaucher disease (GD) [MIM:230800]
11536 P04062 (GBA) T P 173 rs1441909908 Disease: Gaucher disease (GD) [MIM:230800]
11537 P04062 (GBA) A E 175 rs79660787 Disease: Gaucher disease (GD) [MIM:230800]
11538 P04062 (GBA) D H 179 rs147138516 Disease: Gaucher disease (GD) [MIM:230800]
11539 P04062 (GBA) K Q 196 rs121908297 Disease: Gaucher disease (GD) [MIM:230800]
11540 P04062 (GBA) P L 198 rs80222298 Disease: Gaucher disease (GD) [MIM:230800]
11541 P04062 (GBA) P S 198 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11542 P04062 (GBA) P T 198 - Disease: Gaucher disease (GD) [MIM:230800]
11543 P04062 (GBA) I N 200 rs77933015 Disease: Gaucher disease (GD) [MIM:230800]
11544 P04062 (GBA) I S 200 rs77933015 Disease: Gaucher disease (GD) [MIM:230800]
11545 P04062 (GBA) H P 201 rs76500263 Disease: Gaucher disease (GD) [MIM:230800]
11546 P04062 (GBA) R C 209 rs398123532 Disease: Gaucher disease (GD) [MIM:230800]
11547 P04062 (GBA) R P 209 rs749416070 Disease: Gaucher disease (GD) [MIM:230800]
11548 P04062 (GBA) L F 213 rs374591570 Disease: Gaucher disease (GD) [MIM:230800]
11549 P04062 (GBA) A D 215 - Disease: Gaucher disease (GD) [MIM:230800]
11550 P04062 (GBA) P S 217 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11551 P04062 (GBA) P L 221 rs80205046 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11552 P04062 (GBA) P T 221 rs866075757 Disease: Gaucher disease (GD) [MIM:230800]
11553 P04062 (GBA) W R 223 rs61748906 Disease: Gaucher disease (GD) [MIM:230800]
11554 P04062 (GBA) L F 224 - Disease: Gaucher disease (GD) [MIM:230800]
11555 P04062 (GBA) N I 227 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11556 P04062 (GBA) N K 227 rs381418 Disease: Gaucher disease (GD) [MIM:230800]
11557 P04062 (GBA) N S 227 rs364897 Disease: Gaucher disease 3 (GD3) [MIM:231000]
11558 P04062 (GBA) G V 228 rs78911246 Disease: Gaucher disease (GD) [MIM:230800]
11559 P04062 (GBA) A E 229 rs75636769 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11560 P04062 (GBA) A T 229 - Disease: Gaucher disease (GD) [MIM:230800]
11561 P04062 (GBA) V E 230 rs381427 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11562 P04062 (GBA) V G 230 rs381427 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11563 P04062 (GBA) G E 232 rs1376479747 Disease: Gaucher disease (GD) [MIM:230800]
11564 P04062 (GBA) G E 234 rs74462743 Disease: Gaucher disease (GD) [MIM:230800]
11565 P04062 (GBA) G W 234 - Disease: Gaucher disease (GD) [MIM:230800]
11566 P04062 (GBA) S P 235 rs1064644 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11567 P04062 (GBA) K E 237 rs773409311 Disease: Gaucher disease (GD) [MIM:230800]
11568 P04062 (GBA) G E 241 rs77451368 Disease: Gaucher disease (GD) [MIM:230800]
11569 P04062 (GBA) G R 241 rs409652 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11570 P04062 (GBA) Y C 244 rs76026102 Disease: Gaucher disease (GD) [MIM:230800]
11571 P04062 (GBA) Y H 251 rs121908300 Disease: Gaucher disease (GD) [MIM:230800]
11572 P04062 (GBA) F I 252 rs381737 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11573 P04062 (GBA) F Y 255 rs74500255 Disease: Gaucher disease (GD) [MIM:230800]
11574 P04062 (GBA) F L 266 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11575 P04062 (GBA) T R 270 rs76725886 Disease: Gaucher disease (GD) [MIM:230800]
11576 P04062 (GBA) E K 274 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11577 P04062 (GBA) S P 276 - Disease: Gaucher disease (GD) [MIM:230800]
11578 P04062 (GBA) P T 284 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11579 P04062 (GBA) G V 289 rs878853321 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11580 P04062 (GBA) F L 290 rs121908313 Disease: Gaucher disease perinatal lethal (GDPL) [MIM:608013]
11581 P04062 (GBA) H Q 294 rs367968666 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11582 P04062 (GBA) R Q 296 rs78973108 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11583 P04062 (GBA) F L 298 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11584 P04062 (GBA) R G 301 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11585 P04062 (GBA) L I 303 rs1296507371 Disease: Gaucher disease (GD) [MIM:230800]
11586 P04062 (GBA) G D 304 rs80116658 Disease: Gaucher disease (GD) [MIM:230800]
11587 P04062 (GBA) G R 304 - Disease: Gaucher disease 3 (GD3) [MIM:231000]
11588 P04062 (GBA) P R 305 rs79215220 Disease: Gaucher disease (GD) [MIM:230800]
11589 P04062 (GBA) S G 310 rs1057942 Benign
11590 P04062 (GBA) S N 310 rs74731340 Disease: Gaucher disease (GD) [MIM:230800]
11591 P04062 (GBA) R C 324 rs765633380 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11592 P04062 (GBA) R H 324 rs79696831 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11593 P04062 (GBA) P L 328 rs121908298 Disease: Gaucher disease (GD) [MIM:230800]
11594 P04062 (GBA) K I 342 rs77714449 Disease: Gaucher disease (GD) [MIM:230800]
11595 P04062 (GBA) Y C 343 rs77321207 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11596 P04062 (GBA) I S 347 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11597 P04062 (GBA) A V 348 rs78396650 Disease: Gaucher disease (GD) [MIM:230800]
11598 P04062 (GBA) H R 350 rs78198234 Disease: Gaucher disease perinatal lethal (GDPL) [MIM:608013]
11599 P04062 (GBA) W C 351 rs121908304 Disease: Gaucher disease (GD) [MIM:230800]
11600 P04062 (GBA) W S 351 rs1553217294 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11601 P04062 (GBA) Y H 352 - Disease: Gaucher disease (GD) [MIM:230800]
11602 P04062 (GBA) D H 354 rs398123526 Disease: Gaucher disease (GD) [MIM:230800]
11603 P04062 (GBA) A D 357 rs78188205 Disease: Gaucher disease (GD) [MIM:230800]
11604 P04062 (GBA) T I 362 rs76539814 Disease: Gaucher disease (GD) [MIM:230800]
11605 P04062 (GBA) G R 364 rs121908305 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11606 P04062 (GBA) E K 365 rs2230288 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11607 P04062 (GBA) R H 368 rs1064648 Benign
11608 P04062 (GBA) A T 380 rs781306264 Disease: Gaucher disease (GD) [MIM:230800]
11609 P04062 (GBA) C G 381 rs121908306 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11610 P04062 (GBA) E K 388 rs1161552095 Disease: Gaucher disease (GD) [MIM:230800]
11611 P04062 (GBA) V L 391 rs398123527 Disease: Gaucher disease (GD) [MIM:230800]
11612 P04062 (GBA) R G 392 rs121908308 Disease: Gaucher disease (GD) [MIM:230800]
11613 P04062 (GBA) R W 392 rs121908308 Disease: Gaucher disease (GD) [MIM:230800]
11614 P04062 (GBA) R Q 398 rs74979486 Disease: Gaucher disease (GD) [MIM:230800]
11615 P04062 (GBA) M I 400 rs149487315 Disease: Gaucher disease (GD) [MIM:230800]
11616 P04062 (GBA) Y C 402 rs76228122 Disease: Gaucher disease (GD) [MIM:230800]
11617 P04062 (GBA) S T 403 rs121908307 Disease: Gaucher disease (GD) [MIM:230800]
11618 P04062 (GBA) S G 405 - Disease: Gaucher disease (GD) [MIM:230800]
11619 P04062 (GBA) S N 405 rs1392291885 Disease: Gaucher disease (GD) [MIM:230800]
11620 P04062 (GBA) S R 405 rs75528494 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11621 P04062 (GBA) T M 408 rs75548401 Disease: Gaucher disease (GD) [MIM:230800]
11622 P04062 (GBA) N S 409 rs76763715 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11623 P04062 (GBA) L V 410 rs121908314 Disease: Gaucher disease (GD) [MIM:230800]
11624 P04062 (GBA) V L 414 rs398123528 Disease: Gaucher disease (GD) [MIM:230800]
11625 P04062 (GBA) G S 416 rs121908311 Disease: Gaucher disease (GD) [MIM:230800]
11626 P04062 (GBA) W G 417 rs1450426641 Disease: Gaucher disease (GD) [MIM:230800]
11627 P04062 (GBA) D A 419 rs77284004 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11628 P04062 (GBA) D H 419 - Disease: Gaucher disease (GD) [MIM:230800]
11629 P04062 (GBA) D N 419 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11630 P04062 (GBA) W C 420 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11631 P04062 (GBA) N K 421 - Disease: Gaucher disease (GD) [MIM:230800]
11632 P04062 (GBA) P L 426 rs1057519357 Disease: Gaucher disease (GD) [MIM:230800]
11633 P04062 (GBA) G E 428 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11634 P04062 (GBA) G R 429 - Disease: Gaucher disease (GD) [MIM:230800]
11635 P04062 (GBA) P L 430 rs76910485 Disease: Gaucher disease (GD) [MIM:230800]
11636 P04062 (GBA) N I 431 rs77738682 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11637 P04062 (GBA) W R 432 - Disease: Gaucher disease (GD) [MIM:230800]
11638 P04062 (GBA) V L 433 rs80356769 Disease: Gaucher disease (GD) [MIM:230800]
11639 P04062 (GBA) N T 435 rs75385858 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11640 P04062 (GBA) F S 436 rs75243000 Disease: Gaucher disease (GD) [MIM:230800]
11641 P04062 (GBA) V F 437 rs121908310 Disease: Gaucher disease perinatal lethal (GDPL) [MIM:608013]
11642 P04062 (GBA) V L 437 rs121908310 Disease: Gaucher disease 3 (GD3) [MIM:231000]
11643 P04062 (GBA) D N 438 rs1553217009 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11644 P04062 (GBA) D Y 438 - Disease: Gaucher disease (GD) [MIM:230800]
11645 P04062 (GBA) P L 440 rs74598136 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11646 P04062 (GBA) I F 441 - Disease: Gaucher disease 3 (GD3) [MIM:231000]
11647 P04062 (GBA) I T 441 rs75564605 Disease: Gaucher disease (GD) [MIM:230800]
11648 P04062 (GBA) D H 448 rs1064651 Disease: Gaucher disease 3C (GD3C) [MIM:231005]
11649 P04062 (GBA) D V 448 rs77369218 Disease: Gaucher disease (GD) [MIM:230800]
11650 P04062 (GBA) F I 450 rs1553216985 Disease: Gaucher disease (GD) [MIM:230800]
11651 P04062 (GBA) Y H 451 - Disease: Gaucher disease (GD) [MIM:230800]
11652 P04062 (GBA) K Q 452 - Disease: Gaucher disease (GD) [MIM:230800]
11653 P04062 (GBA) P R 454 rs121908295 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11654 P04062 (GBA) M V 455 - Disease: Gaucher disease (GD) [MIM:230800]
11655 P04062 (GBA) F V 456 - Disease: Gaucher disease (GD) [MIM:230800]
11656 P04062 (GBA) Y C 457 rs74752878 Disease: Gaucher disease (GD) [MIM:230800]
11657 P04062 (GBA) G D 460 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11658 P04062 (GBA) K E 464 - Disease: Gaucher disease (GD) [MIM:230800]
11659 P04062 (GBA) D N 482 rs75671029 Benign
11660 P04062 (GBA) L P 483 rs421016 Disease: Gaucher disease 2 (GD2) [MIM:230900]
11661 P04062 (GBA) L R 483 rs421016 Disease: Gaucher disease (GD) [MIM:230800]
11662 P04062 (GBA) A P 485 - Disease: Gaucher disease (GD) [MIM:230800]
11663 P04062 (GBA) V E 486 - Disease: Gaucher disease 1 (GD1) [MIM:230800]
11664 P04062 (GBA) H R 490 rs76071730 Disease: Gaucher disease 1 (GD1) [MIM:230800]
11665 P04062 (GBA) A P 495 rs368060 Disease: Gaucher disease (GD) [MIM:230800]
11666 P04062 (GBA) V L 497 - Benign
11667 P04062 (GBA) L P 500 rs1362103320 Disease: Gaucher disease (GD) [MIM:230800]
11668 P04062 (GBA) N K 501 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11669 P04062 (GBA) R C 502 rs80356771 Disease: Gaucher disease (GD) [MIM:230800]
11670 P04062 (GBA) R P 502 - Disease: Gaucher disease (GD) [MIM:230800]
11671 P04062 (GBA) L P 509 - Benign
11672 P04062 (GBA) D Y 513 - Disease: Gaucher disease 2 (GD2) [MIM:230900]
11673 P04062 (GBA) G S 517 rs121908301 Disease: Gaucher disease (GD) [MIM:230800]
11674 P04062 (GBA) T I 530 rs78016673 Disease: Gaucher disease 3 (GD3) [MIM:231000]
11675 P04062 (GBA) R C 535 rs747506979 Disease: Gaucher disease (GD) [MIM:230800]
11676 P04062 (GBA) R H 535 rs75822236 Disease: Gaucher disease (GD) [MIM:230800]
11677 P04066 (FUCA1) R W 2 rs2070955 Benign
11678 P04066 (FUCA1) P R 10 rs2070956 Benign
11679 P04066 (FUCA1) G D 65 rs1353778985 Disease: Fucosidosis (FUCA1D) [MIM:230000]
11680 P04066 (FUCA1) S L 68 - Disease: Fucosidosis (FUCA1D) [MIM:230000]
11681 P04066 (FUCA1) P L 146 rs2228424 Benign
11682 P04066 (FUCA1) V I 260 rs665 Benign
11683 P04066 (FUCA1) C S 269 rs1126512 Benign
11684 P04066 (FUCA1) Q R 286 rs13551 Benign
11685 P04066 (FUCA1) L R 410 rs80358199 Disease: Fucosidosis (FUCA1D) [MIM:230000]
11686 P04070 (PROC) R C 32 - Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11687 P04070 (PROC) R W 38 rs769900251 Benign
11688 P04070 (PROC) R C 42 rs774572099 Benign
11689 P04070 (PROC) R H 42 rs369504169 Benign
11690 P04070 (PROC) R S 42 rs774572099 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11691 P04070 (PROC) A T 43 rs767626189 Benign
11692 P04070 (PROC) R C 51 rs764546127 Benign
11693 P04070 (PROC) R Q 57 rs574949343 Benign
11694 P04070 (PROC) R W 57 rs757583846 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11695 P04070 (PROC) E A 62 rs121918148 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11696 P04070 (PROC) K E 70 rs199469481 Benign
11697 P04070 (PROC) V M 76 rs121918149 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11698 P04070 (PROC) D G 77 - Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11699 P04070 (PROC) C G 106 rs199469479 Benign
11700 P04070 (PROC) H N 108 rs200234655 Benign
11701 P04070 (PROC) G R 114 rs374476971 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11702 P04070 (PROC) F L 118 rs1553424043 Benign
11703 P04070 (PROC) G R 145 rs370813536 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11704 P04070 (PROC) C Y 147 rs1247269491 Benign
11705 P04070 (PROC) H P 149 rs121918159 Benign
11706 P04070 (PROC) S R 161 rs1433503391 Benign
11707 P04070 (PROC) A E 163 - Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11708 P04070 (PROC) A V 163 - Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11709 P04070 (PROC) C Y 175 rs199469474 Benign
11710 P04070 (PROC) A P 178 rs1254257945 Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11711 P04070 (PROC) F V 181 rs199469470 Benign
11712 P04070 (PROC) C R 183 rs748920874 Benign
11713 P04070 (PROC) R W 189 rs146922325 Benign
11714 P04070 (PROC) R C 194 rs371071104 Benign
11715 P04070 (PROC) P L 210 rs121918145 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11716 P04070 (PROC) R Q 211 rs199469476 Benign
11717 P04070 (PROC) R W 211 rs121918143 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11718 P04070 (PROC) R Q 220 rs121918153 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11719 P04070 (PROC) R W 220 rs121918152 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11720 P04070 (PROC) S R 223 rs199469483 Benign
11721 P04070 (PROC) Q H 226 rs121918155 Benign
11722 P04070 (PROC) I T 243 rs774584131 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11723 P04070 (PROC) H Y 244 rs759557871 Benign
11724 P04070 (PROC) H Q 253 rs1458669732 Benign
11725 P04070 (PROC) L F 265 rs121918156 Benign
11726 P04070 (PROC) R Q 271 rs752290840 Benign
11727 P04070 (PROC) R W 271 rs767112991 Benign
11728 P04070 (PROC) R C 272 rs121918154 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11729 P04070 (PROC) P L 289 rs121918151 Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11730 P04070 (PROC) S N 294 rs200721675 Benign
11731 P04070 (PROC) D H 297 rs199469471 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11732 P04070 (PROC) A T 301 rs1343264503 Benign
11733 P04070 (PROC) A V 301 rs121918144 Benign
11734 P04070 (PROC) A T 309 rs121918146 Benign
11735 P04070 (PROC) S L 312 rs121918160 Benign
11736 P04070 (PROC) P L 321 rs1321566264 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11737 P04070 (PROC) G R 324 - Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11738 P04070 (PROC) E V 327 rs199469480 Benign
11739 P04070 (PROC) R C 328 rs201907715 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11740 P04070 (PROC) R H 328 - Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11741 P04070 (PROC) G S 334 rs121918150 Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11742 P04070 (PROC) T M 340 rs766261022 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11743 P04070 (PROC) V A 367 rs767730328 Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11744 P04070 (PROC) P L 369 rs1211098698 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11745 P04070 (PROC) A V 388 rs769277939 Benign
11746 P04070 (PROC) G R 392 rs756467027 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11747 P04070 (PROC) R W 394 rs759316085 Benign
11748 P04070 (PROC) D N 401 rs142742242 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11749 P04070 (PROC) G D 418 - Disease: Thrombophili a due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]
11750 P04070 (PROC) V L 420 rs199469472 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11751 P04070 (PROC) G S 423 - Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11752 P04070 (PROC) C Y 426 - Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11753 P04070 (PROC) G S 433 rs1266965698 Benign
11754 P04070 (PROC) T N 436 - Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11755 P04070 (PROC) Y H 441 rs753436021 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11756 P04070 (PROC) W C 444 rs121918142 Disease: Thrombophili a due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]
11757 P04070 (PROC) I M 445 rs121918157 Benign
11758 P04075 (ALDOA) E Q 82 rs11553107 Benign
11759 P04075 (ALDOA) D G 129 rs121909533 Disease: Glycogen storage disease 12 (GSD12) [MIM:611881]
11760 P04075 (ALDOA) G V 142 rs11553108 Benign
11761 P04075 (ALDOA) E K 207 rs121909534 Disease: Glycogen storage disease 12 (GSD12) [MIM:611881]
11762 P04075 (ALDOA) C Y 339 - Disease: Glycogen storage disease 12 (GSD12) [MIM:611881]
11763 P04075 (ALDOA) G S 347 rs138824667 Benign
11764 P04080 (CSTB) G R 4 rs74315443 Disease: Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]
11765 P04090 (RLN2) V F 12 rs2020050 Benign
11766 P04090 (RLN2) M K 28 rs618066 Benign
11767 P04114 (APOB) T I 98 rs1367117 Benign
11768 P04114 (APOB) Y H 103 rs9282603 Benign
11769 P04114 (APOB) P S 145 rs6752026 Benign
11770 P04114 (APOB) T M 194 rs13306198 Benign
11771 P04114 (APOB) A T 251 rs61741625 Benign
11772 P04114 (APOB) K N 273 - Benign
11773 P04114 (APOB) I T 408 rs12714225 Benign
11774 P04114 (APOB) R W 490 rs771541567 Disease: Hypobetalipo proteinemia, familial, 1 (FHBL1) [MIM:615558]
11775 P04114 (APOB) P L 554 rs12714214 Benign
11776 P04114 (APOB) A V 618 rs679899 Benign
11777 P04114 (APOB) V I 730 rs12691202 Benign
11778 P04114 (APOB) V I 733 rs1800476 Benign
11779 P04114 (APOB) T N 741 rs12714192 Benign
11780 P04114 (APOB) P L 877 rs12714097 Benign
11781 P04114 (APOB) P S 955 rs13306206 Benign
11782 P04114 (APOB) G S 1086 rs12720801 Benign
11783 P04114 (APOB) D H 1113 rs12713844 Benign
11784 P04114 (APOB) R H 1128 rs12713843 Benign
11785 P04114 (APOB) Q E 1218 rs1041956 Benign
11786 P04114 (APOB) R H 1388 rs13306187 Benign
11787 P04114 (APOB) Y C 1422 rs568413 Benign
11788 P04114 (APOB) F L 1437 rs1801697 Benign
11789 P04114 (APOB) S T 1613 rs61742247 Benign
11790 P04114 (APOB) E D 1670 rs773681906 Benign
11791 P04114 (APOB) N S 1914 rs1801699 Benign
11792 P04114 (APOB) H R 1923 rs533617 Benign
11793 P04114 (APOB) I N 2037 - Benign
11794 P04114 (APOB) L V 2092 rs1041960 Benign
11795 P04114 (APOB) D H 2299 rs12713681 Benign
11796 P04114 (APOB) I V 2313 rs584542 Benign
11797 P04114 (APOB) A T 2365 rs1041971 Benign
11798 P04114 (APOB) A D 2456 rs12713675 Benign
11799 P04114 (APOB) E K 2566 rs1801696 Benign
11800 P04114 (APOB) L Q 2680 rs1042013 Benign
11801 P04114 (APOB) P L 2739 rs676210 Benign
11802 P04114 (APOB) N H 2785 rs2163204 Benign
11803 P04114 (APOB) A T 3121 rs1801694 Benign
11804 P04114 (APOB) H N 3182 rs12720848 Benign
11805 P04114 (APOB) S G 3279 rs12720854 Benign
11806 P04114 (APOB) S P 3294 rs12720855 Benign
11807 P04114 (APOB) D H 3319 rs1042021 Benign
11808 P04114 (APOB) T K 3427 rs1042022 Benign
11809 P04114 (APOB) Q E 3432 rs1042023 Benign
11810 P04114 (APOB) R Q 3527 rs5742904 Disease: Familial ligand- defective apolipoprote in B-100 (FDB) [MIM:144010]
11811 P04114 (APOB) R C 3558 rs12713559 Disease: Familial ligand- defective apolipoprote in B-100 (FDB) [MIM:144010]
11812 P04114 (APOB) R Q 3638 rs1801701 Benign
11813 P04114 (APOB) I T 3732 rs1042025 Benign
11814 P04114 (APOB) S T 3801 rs12713540 Benign
11815 P04114 (APOB) I L 3835 rs776119459 Benign
11816 P04114 (APOB) V I 3921 rs72654409 Benign
11817 P04114 (APOB) T A 3945 rs1801698 Benign
11818 P04114 (APOB) F L 3949 rs1042027 Benign
11819 P04114 (APOB) Y F 3964 rs1126468 Benign
11820 P04114 (APOB) V M 4128 rs1801703 Benign
11821 P04114 (APOB) E K 4181 rs1042031 Benign
11822 P04114 (APOB) R T 4270 rs1801702 Benign
11823 P04114 (APOB) I V 4314 rs72654423 Benign
11824 P04114 (APOB) S N 4338 rs1042034 Benign
11825 P04114 (APOB) V A 4394 rs12720843 Benign
11826 P04114 (APOB) A T 4481 rs1801695 Benign
11827 P04114 (APOB) I V 4482 rs142702699 Benign
11828 P04114 (APOB) T M 4484 rs12713450 Benign
11829 P04118 (CLPS) L P 8 rs2766597 Benign
11830 P04118 (CLPS) R C 109 rs41270082 Benign
11831 P04141 (CSF2) T I 115 rs2069640 Benign
11832 P04141 (CSF2) I T 117 rs25882 Benign
11833 P04150 (NR3C1) R K 23 rs6190 Benign
11834 P04150 (NR3C1) F L 29 rs148102613 Benign
11835 P04150 (NR3C1) F V 65 rs6192 Benign
11836 P04150 (NR3C1) N D 72 - Benign
11837 P04150 (NR3C1) L F 112 rs542110718 Benign
11838 P04150 (NR3C1) D N 233 rs1241576112 Benign
11839 P04150 (NR3C1) V A 321 - Benign
11840 P04150 (NR3C1) N S 363 rs56149945 Benign
11841 P04150 (NR3C1) C Y 421 - Benign
11842 P04150 (NR3C1) R H 477 rs104893913 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11843 P04150 (NR3C1) R S 477 - Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11844 P04150 (NR3C1) Y C 478 - Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11845 P04150 (NR3C1) T I 556 - Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11846 P04150 (NR3C1) I N 559 rs104893909 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11847 P04150 (NR3C1) V A 571 rs104893911 Benign
11848 P04150 (NR3C1) D V 641 rs104893908 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11849 P04150 (NR3C1) L P 672 - Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11850 P04150 (NR3C1) G S 679 rs104893914 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11851 P04150 (NR3C1) V I 729 rs1027058734 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11852 P04150 (NR3C1) F L 737 rs121909727 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11853 P04150 (NR3C1) I M 747 rs104893910 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11854 P04150 (NR3C1) L F 753 rs121909726 Benign
11855 P04150 (NR3C1) N S 766 - Benign
11856 P04150 (NR3C1) L P 773 rs104893912 Disease: Glucocortico id resistance, generalized (GCCR) [MIM:615962]
11857 P04155 (TFF1) T I 22 rs34795821 Benign
11858 P04156 (PRNP) P L 102 rs74315401 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11859 P04156 (PRNP) P L 105 rs11538758 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11860 P04156 (PRNP) A V 117 rs74315402 Benign
11861 P04156 (PRNP) G V 127 rs267606980 Benign
11862 P04156 (PRNP) M V 129 rs1799990 Benign
11863 P04156 (PRNP) G V 131 rs74315410 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11864 P04156 (PRNP) N S 171 rs16990018 Benign
11865 P04156 (PRNP) D N 178 rs74315403 Disease: Fatal familial insomnia (FFI) [MIM:600072]
11866 P04156 (PRNP) V I 180 rs74315408 Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11867 P04156 (PRNP) T A 183 rs74315411 Disease: Spongiform encephalopat hy with neuropsychia tric features (SENF) [MIM:606688]
11868 P04156 (PRNP) H R 187 rs74315413 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11869 P04156 (PRNP) T R 188 rs372878791 Benign
11870 P04156 (PRNP) E K 196 - Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11871 P04156 (PRNP) F S 198 rs74315405 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11872 P04156 (PRNP) E K 200 rs28933385 Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11873 P04156 (PRNP) D N 202 rs761807915 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11874 P04156 (PRNP) R H 208 rs74315412 Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11875 P04156 (PRNP) V I 210 rs74315407 Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11876 P04156 (PRNP) E Q 211 rs398122370 Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11877 P04156 (PRNP) Q P 212 rs751882709 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11878 P04156 (PRNP) Q R 217 rs74315406 Disease: Gerstmann- Straussler disease (GSD) [MIM:137440]
11879 P04156 (PRNP) E K 219 rs1800014 Benign
11880 P04156 (PRNP) M R 232 rs74315409 Disease: Creutzfeldt- Jakob disease (CJD) [MIM:123400]
11881 P04156 (PRNP) P S 238 - Benign
11882 P04179 (SOD2) S I 10 rs5746096 Benign
11883 P04179 (SOD2) V A 16 rs4880 Benign
11884 P04179 (SOD2) E V 66 rs5746097 Benign
11885 P04179 (SOD2) G R 76 rs4987023 Benign
11886 P04179 (SOD2) I T 82 rs1141718 Benign
11887 P04179 (SOD2) R W 156 rs5746129 Benign
11888 P04180 (LCAT) N I 29 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11889 P04180 (LCAT) P L 34 rs121908051 Disease: Fish-eye disease (FED) [MIM:136120]
11890 P04180 (LCAT) P Q 34 - Disease: Fish-eye disease (FED) [MIM:136120]
11891 P04180 (LCAT) T M 37 rs971887742 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11892 P04180 (LCAT) G S 54 rs1461145750 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11893 P04180 (LCAT) G R 57 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11894 P04180 (LCAT) V E 70 rs748427834 Disease: Fish-eye disease (FED) [MIM:136120]
11895 P04180 (LCAT) W S 99 - Disease: Fish-eye disease (FED) [MIM:136120]
11896 P04180 (LCAT) S P 115 rs1412883954 Benign
11897 P04180 (LCAT) A T 117 rs28940886 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11898 P04180 (LCAT) R C 123 rs140068549 Disease: Fish-eye disease (FED) [MIM:136120]
11899 P04180 (LCAT) T I 147 rs121908050 Disease: Fish-eye disease (FED) [MIM:136120]
11900 P04180 (LCAT) R Q 159 rs768017317 Disease: Fish-eye disease (FED) [MIM:136120]
11901 P04180 (LCAT) R W 159 rs28940887 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11902 P04180 (LCAT) R C 164 rs1380009545 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11903 P04180 (LCAT) R H 164 rs769485083 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11904 P04180 (LCAT) A T 165 rs1369994093 Benign
11905 P04180 (LCAT) R W 171 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11906 P04180 (LCAT) Y N 180 rs749740660 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11907 P04180 (LCAT) R C 182 rs387906300 Benign
11908 P04180 (LCAT) S N 205 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11909 P04180 (LCAT) S T 232 rs4986970 Benign
11910 P04180 (LCAT) L P 233 rs28942087 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11911 P04180 (LCAT) K N 242 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11912 P04180 (LCAT) N K 252 rs121908049 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11913 P04180 (LCAT) R C 268 rs745320775 Benign
11914 P04180 (LCAT) R H 268 rs780824776 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11915 P04180 (LCAT) M K 276 rs121908054 Disease: Fish-eye disease (FED) [MIM:136120]
11916 P04180 (LCAT) T A 298 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11917 P04180 (LCAT) T I 298 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11918 P04180 (LCAT) M I 317 rs121908048 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11919 P04180 (LCAT) R C 322 rs1407191796 Benign
11920 P04180 (LCAT) P S 331 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11921 P04180 (LCAT) V M 333 rs776035233 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11922 P04180 (LCAT) L F 338 rs1330635214 Disease: Fish-eye disease (FED) [MIM:136120]
11923 P04180 (LCAT) T M 345 rs28940888 Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11924 P04180 (LCAT) R C 347 rs202017590 Disease: Fish-eye disease (FED) [MIM:136120]
11925 P04180 (LCAT) T M 371 rs121908053 Disease: Fish-eye disease (FED) [MIM:136120]
11926 P04180 (LCAT) F V 406 - Disease: Lecithin- cholesterol acyltransfer ase deficiency (LCATD) [MIM:245900]
11927 P04181 (OAT) G D 51 rs11553554 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11928 P04181 (OAT) N K 54 rs121965048 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11929 P04181 (OAT) Y H 55 rs121965037 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11930 P04181 (OAT) N K 89 rs386833602 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11931 P04181 (OAT) Q E 90 rs121965060 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11932 P04181 (OAT) C F 93 rs121965038 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11933 P04181 (OAT) Q R 104 rs386833604 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11934 P04181 (OAT) R L 154 rs121965039 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11935 P04181 (OAT) R T 180 rs121965040 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11936 P04181 (OAT) P Q 199 rs267606925 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11937 P04181 (OAT) A V 226 rs121965059 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11938 P04181 (OAT) P L 241 rs121965051 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11939 P04181 (OAT) Y C 245 rs121965046 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11940 P04181 (OAT) R P 250 rs121965052 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11941 P04181 (OAT) T I 267 rs386833618 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11942 P04181 (OAT) A P 270 rs121965041 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11943 P04181 (OAT) R K 271 rs121965042 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11944 P04181 (OAT) E K 318 rs386833621 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11945 P04181 (OAT) H Y 319 rs121965049 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11946 P04181 (OAT) V M 332 rs121965047 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11947 P04181 (OAT) G D 353 rs121965053 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11948 P04181 (OAT) G A 375 rs121965045 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11949 P04181 (OAT) C R 394 rs121965054 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11950 P04181 (OAT) C Y 394 rs386833597 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11951 P04181 (OAT) L P 402 rs121965043 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11952 P04181 (OAT) P L 417 rs121965044 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11953 P04181 (OAT) I N 436 rs386833598 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11954 P04181 (OAT) L F 437 rs1800456 Disease: Hyperornithi nemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
11955 P04196 (HRG) S L 79 rs4516605 Benign
11956 P04196 (HRG) G E 103 rs121918122 Disease: Thrombophili a due to histidine- rich glycoprotein deficiency (THPH11) [MIM:613116]
11957 P04196 (HRG) D G 118 rs3733008 Benign
11958 P04196 (HRG) I T 180 rs10770 Benign
11959 P04196 (HRG) P S 204 rs9898 Benign
11960 P04196 (HRG) C R 241 rs2276804 Disease: Thrombophili a due to histidine- rich glycoprotein deficiency (THPH11) [MIM:613116]
11961 P04196 (HRG) H R 340 rs2228243 Benign
11962 P04196 (HRG) G R 436 rs2229331 Benign
11963 P04196 (HRG) R C 448 rs1042445 Benign
11964 P04196 (HRG) N I 493 rs1042464 Benign
11965 P04198 (MYCN) R H 393 rs104893646 Disease: Feingold syndrome 1 (FGLDS1) [MIM:164280]
11966 P04198 (MYCN) R S 393 rs104893647 Disease: Feingold syndrome 1 (FGLDS1) [MIM:164280]
11967 P04198 (MYCN) R H 394 rs104893648 Disease: Feingold syndrome 1 (FGLDS1) [MIM:164280]
11968 P04217 (A1BG) H R 52 rs893184 Benign
11969 P04217 (A1BG) H R 395 rs2241788 Benign
11970 P04234 (CD3D) Q R 147 rs45510201 Benign
11971 P04259 (KRT6B) N S 21 rs428894 Benign
11972 P04259 (KRT6B) N S 227 rs652423 Benign
11973 P04259 (KRT6B) I V 365 rs437014 Benign
11974 P04259 (KRT6B) E K 472 rs60627726 Disease: Pachyonychia congenita 4 (PC4) [MIM:615728]
11975 P04264 (KRT1) K I 74 rs57977969 Disease: Keratoderma, palmoplantar , non-epidermo lytic (NEPPK) [MIM:600962]
11976 P04264 (KRT1) V D 155 rs57959072 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11977 P04264 (KRT1) V G 155 rs57959072 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11978 P04264 (KRT1) L P 161 rs57695159 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11979 P04264 (KRT1) S P 186 rs60022878 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11980 P04264 (KRT1) N K 188 rs59429455 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11981 P04264 (KRT1) N S 188 rs58928370 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11982 P04264 (KRT1) N T 188 rs58928370 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11983 P04264 (KRT1) S P 193 rs60937700 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11984 P04264 (KRT1) L P 214 rs61549035 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11985 P04264 (KRT1) I V 312 - Benign
11986 P04264 (KRT1) I T 330 - Benign
11987 P04264 (KRT1) D V 340 rs58062863 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11988 P04264 (KRT1) Y N 358 rs1050872 Benign
11989 P04264 (KRT1) A S 454 rs17678945 Benign
11990 P04264 (KRT1) E Q 478 rs59089201 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11991 P04264 (KRT1) I F 479 rs61218439 Disease: Ichthyosis annular epidermolyti c (AEI) [MIM:607602]
11992 P04264 (KRT1) I T 479 rs57837128 Disease: Ichthyosis annular epidermolyti c (AEI) [MIM:607602]
11993 P04264 (KRT1) Y C 482 rs58420087 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11994 P04264 (KRT1) L P 485 rs267607430 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11995 P04264 (KRT1) L P 486 rs56914602 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11996 P04264 (KRT1) E K 490 rs60279707 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11997 P04264 (KRT1) E Q 490 rs60279707 Disease: Epidermolyti c hyperkeratos is (EHK) [MIM:113800]
11998 P04264 (KRT1) G C 537 - Benign
11999 P04264 (KRT1) K R 633 rs14024 Benign
12000 P04275 (VWF) R W 273 rs61753997 Disease: Von Willebrand disease 3 (VWD3) [MIM:277480]
12001 P04275 (VWF) N K 318 rs1800387 Benign
12002 P04275 (VWF) W C 377 rs62643626 Disease: Von Willebrand disease 3 (VWD3) [MIM:277480]
12003 P04275 (VWF) V I 471 rs1800377 Benign
12004 P04275 (VWF) H R 484 rs1800378 Benign
12005 P04275 (VWF) N S 528 rs61754010 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12006 P04275 (VWF) G R 550 rs61754011 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12007 P04275 (VWF) M I 740 rs2228317 Benign
12008 P04275 (VWF) C Y 788 rs61748476 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12009 P04275 (VWF) T A 789 rs1063856 Benign
12010 P04275 (VWF) T M 791 rs61748477 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12011 P04275 (VWF) R W 816 rs121964894 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12012 P04275 (VWF) Q R 852 rs216321 Benign
12013 P04275 (VWF) R Q 854 rs41276738 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12014 P04275 (VWF) N D 857 - Benign
12015 P04275 (VWF) F S 885 rs11064002 Benign
12016 P04275 (VWF) C R 1060 rs61748497 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12017 P04275 (VWF) C R 1149 rs61748511 Disease: Von Willebrand disease 1 (VWD1) [MIM:193400]
12018 P04275 (VWF) P L 1266 rs61749370 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12019 P04275 (VWF) H D 1268 rs61749371 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12020 P04275 (VWF) C F 1272 rs63524161 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12021 P04275 (VWF) C R 1272 rs61749372 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12022 P04275 (VWF) R W 1306 rs61749384 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12023 P04275 (VWF) R C 1308 rs61749387 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12024 P04275 (VWF) W C 1313 rs61749392 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12025 P04275 (VWF) V L 1314 rs61749393 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12026 P04275 (VWF) V M 1316 rs61749397 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12027 P04275 (VWF) V L 1318 rs372028373 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12028 P04275 (VWF) G S 1324 rs61749398 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12029 P04275 (VWF) R Q 1341 rs61749403 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12030 P04275 (VWF) R C 1374 rs61750071 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12031 P04275 (VWF) R H 1374 rs61750072 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12032 P04275 (VWF) T A 1381 rs216311 Benign
12033 P04275 (VWF) R H 1399 rs216312 Benign
12034 P04275 (VWF) L V 1460 rs61750088 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12035 P04275 (VWF) A V 1461 rs61750089 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12036 P04275 (VWF) D H 1472 rs1800383 Benign
12037 P04275 (VWF) F C 1514 rs61750101 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12038 P04275 (VWF) L P 1540 rs267607342 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12039 P04275 (VWF) V L 1565 rs1800385 Benign
12040 P04275 (VWF) Y C 1584 rs1800386 Benign
12041 P04275 (VWF) R G 1597 rs61750117 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12042 P04275 (VWF) R Q 1597 rs61750577 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12043 P04275 (VWF) R W 1597 rs61750117 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12044 P04275 (VWF) V D 1607 rs61750579 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12045 P04275 (VWF) G R 1609 rs61750580 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12046 P04275 (VWF) S P 1613 rs61750581 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12047 P04275 (VWF) I T 1628 rs61750584 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12048 P04275 (VWF) E K 1638 rs61750588 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12049 P04275 (VWF) P S 1648 rs61750590 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12050 P04275 (VWF) V E 1665 rs61750596 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12051 P04275 (VWF) P S 2063 rs61750615 Disease: Von Willebrand disease 3 (VWD3) [MIM:277480]
12052 P04275 (VWF) A S 2178 rs34230288 Benign
12053 P04275 (VWF) R Q 2185 rs2229446 Benign
12054 P04275 (VWF) C F 2362 rs61750630 Disease: Von Willebrand disease 3 (VWD3) [MIM:277480]
12055 P04275 (VWF) N Y 2546 rs61751298 Disease: Von Willebrand disease 3 (VWD3) [MIM:277480]
12056 P04275 (VWF) G R 2705 rs7962217 Benign
12057 P04275 (VWF) C Y 2739 rs61751305 Disease: Von Willebrand disease 3 (VWD3) [MIM:277480]
12058 P04275 (VWF) C R 2773 rs61751310 Disease: Von Willebrand disease 2 (VWD2) [MIM:613554]
12059 P04278 (SHBG) R H 22 rs9282845 Benign
12060 P04278 (SHBG) R H 25 rs6260 Benign
12061 P04278 (SHBG) P L 185 rs6258 Benign
12062 P04278 (SHBG) D N 356 rs6259 Benign
12063 P04279 (SEMG1) E G 58 rs11559137 Benign
12064 P04279 (SEMG1) S T 79 rs2301366 Benign
12065 P04279 (SEMG1) H R 108 rs2233884 Benign
12066 P04279 (SEMG1) R L 372 rs2233887 Benign
12067 P04280 (PRB1) S A 337 - Benign
12068 P04350 (TUBB4A) R G 2 rs587776983 Disease: Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101]
12069 P04350 (TUBB4A) I M 155 rs1053262 Benign
12070 P04350 (TUBB4A) D N 249 rs483352809 Disease: Leukodystrop hy, hypomyelinat ing, 6 (HLD) [MIM:612438]
12071 P04350 (TUBB4A) A V 365 rs1053267 Benign
12072 P04406 (GAPDH) A G 22 rs45541435 Benign
12073 P04406 (GAPDH) K N 251 rs1062429 Benign
12074 P04424 (ASL) D N 31 rs754995756 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12075 P04424 (ASL) V A 70 rs1027739421 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12076 P04424 (ASL) E K 73 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12077 P04424 (ASL) R C 94 rs374304304 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12078 P04424 (ASL) R H 94 rs777437569 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12079 P04424 (ASL) R C 95 rs28940585 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12080 P04424 (ASL) R H 95 rs150244667 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12081 P04424 (ASL) A V 104 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12082 P04424 (ASL) R W 111 rs138310841 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12083 P04424 (ASL) R Q 113 rs752783461 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12084 P04424 (ASL) D E 120 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12085 P04424 (ASL) L H 121 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12086 P04424 (ASL) R W 126 rs201962738 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12087 P04424 (ASL) R W 146 rs199938613 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12088 P04424 (ASL) P R 156 rs769017508 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12089 P04424 (ASL) H N 160 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12090 P04424 (ASL) P H 166 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12091 P04424 (ASL) R H 168 rs727503811 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12092 P04424 (ASL) S N 170 rs1180650883 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12093 P04424 (ASL) V M 178 rs28941473 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12094 P04424 (ASL) L R 180 rs1057141162 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12095 P04424 (ASL) R Q 182 rs751590073 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12096 P04424 (ASL) R Q 186 rs752397242 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12097 P04424 (ASL) R W 191 rs143508372 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12098 P04424 (ASL) R Q 193 rs373697663 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12099 P04424 (ASL) R W 193 rs1428029508 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12100 P04424 (ASL) A V 205 rs796051925 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12101 P04424 (ASL) R Q 213 rs1449589636 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12102 P04424 (ASL) L P 227 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12103 P04424 (ASL) S R 229 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12104 P04424 (ASL) S T 229 rs1554327272 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12105 P04424 (ASL) D E 231 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12106 P04424 (ASL) R W 236 rs761268464 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12107 P04424 (ASL) D N 237 rs552951774 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12108 P04424 (ASL) M T 256 rs149057077 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12109 P04424 (ASL) L P 262 rs1554327586 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12110 P04424 (ASL) Q R 286 rs28941472 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12111 P04424 (ASL) L P 295 rs1369337876 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12112 P04424 (ASL) R Q 297 rs750431938 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12113 P04424 (ASL) G R 301 rs1161412459 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12114 P04424 (ASL) R W 306 rs868834862 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12115 P04424 (ASL) D A 324 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12116 P04424 (ASL) Q L 326 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12117 P04424 (ASL) V L 335 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12118 P04424 (ASL) L F 343 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12119 P04424 (ASL) L P 343 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12120 P04424 (ASL) M V 368 rs1554328202 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12121 P04424 (ASL) R C 379 rs28940287 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12122 P04424 (ASL) K E 380 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12123 P04424 (ASL) M R 382 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12124 P04424 (ASL) R C 385 rs28940286 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12125 P04424 (ASL) R H 385 rs746120802 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12126 P04424 (ASL) R L 385 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12127 P04424 (ASL) H Q 388 - Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12128 P04424 (ASL) S R 433 rs796051928 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12129 P04424 (ASL) V L 434 rs773071023 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12130 P04424 (ASL) S N 447 rs373519615 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12131 P04424 (ASL) R Q 456 rs767271619 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12132 P04424 (ASL) R W 456 rs759396688 Disease: Argininosucc inic aciduria (ARGINSA) [MIM:207900]
12133 P04435 (TRBV7-9) K N 30 - Benign
12134 P04439 (HLA-A) V I 3 - Benign
12135 P04439 (HLA-A) A P 5 - Benign
12136 P04439 (HLA-A) L V 10 - Benign
12137 P04439 (HLA-A) S L 14 - Benign
12138 P04439 (HLA-A) W R 23 - Benign
12139 P04439 (HLA-A) F S 33 rs2075684 Benign
12140 P04439 (HLA-A) F T 33 - Benign
12141 P04439 (HLA-A) F Y 33 rs2075684 Benign
12142 P04439 (HLA-A) R S 41 rs1059423 Benign
12143 P04439 (HLA-A) T S 55 - Benign
12144 P04439 (HLA-A) R Q 59 - Benign
12145 P04439 (HLA-A) Q R 67 rs41559117 Benign
12146 P04439 (HLA-A) R K 68 - Benign
12147 P04439 (HLA-A) G E 80 - Benign
12148 P04439 (HLA-A) G R 80 rs1059449 Benign
12149 P04439 (HLA-A) Q E 86 - Benign
12150 P04439 (HLA-A) Q G 86 - Benign
12151 P04439 (HLA-A) Q L 86 - Benign
12152 P04439 (HLA-A) Q R 86 - Benign
12153 P04439 (HLA-A) E N 87 - Benign
12154 P04439 (HLA-A) E Q 87 - Benign
12155 P04439 (HLA-A) R G 89 rs199474430 Benign
12156 P04439 (HLA-A) N K 90 rs199474436 Benign
12157 P04439 (HLA-A) V M 91 - Benign
12158 P04439 (HLA-A) Q H 94 rs78306866 Benign
12159 P04439 (HLA-A) T I 97 rs199474457 Benign
12160 P04439 (HLA-A) D H 98 - Benign
12161 P04439 (HLA-A) D N 98 - Benign
12162 P04439 (HLA-A) V A 100 - Benign
12163 P04439 (HLA-A) V E 100 rs1071742 Benign
12164 P04439 (HLA-A) D N 101 rs1136688 Benign
12165 P04439 (HLA-A) D S 101 - Benign
12166 P04439 (HLA-A) A D 114 rs1136692 Benign
12167 P04439 (HLA-A) I L 119 rs1071743 Benign
12168 P04439 (HLA-A) I V 119 - Benign
12169 P04439 (HLA-A) I M 121 rs1136695 Benign
12170 P04439 (HLA-A) I R 121 - Benign
12171 P04439 (HLA-A) Y F 123 rs1136697 Benign
12172 P04439 (HLA-A) S P 129 rs1136700 Benign
12173 P04439 (HLA-A) G W 131 rs1136702 Benign
12174 P04439 (HLA-A) F L 133 rs1059488 Benign
12175 P04439 (HLA-A) R E 138 - Benign
12176 P04439 (HLA-A) R H 138 - Benign
12177 P04439 (HLA-A) R Q 138 - Benign
12178 P04439 (HLA-A) D H 140 - Benign
12179 P04439 (HLA-A) D Y 140 - Benign
12180 P04439 (HLA-A) N K 151 rs1059509 Benign
12181 P04439 (HLA-A) I T 166 rs1059516 Benign
12182 P04439 (HLA-A) K Q 168 - Benign
12183 P04439 (HLA-A) R H 169 rs1059520 Benign
12184 P04439 (HLA-A) A T 173 rs1059526 Benign
12185 P04439 (HLA-A) A V 174 - Benign
12186 P04439 (HLA-A) H R 175 - Benign
12187 P04439 (HLA-A) E A 176 - Benign
12188 P04439 (HLA-A) E R 176 - Benign
12189 P04439 (HLA-A) E V 176 rs9256983 Benign
12190 P04439 (HLA-A) E W 176 - Benign
12191 P04439 (HLA-A) L Q 180 - Benign
12192 P04439 (HLA-A) L R 180 - Benign
12193 P04439 (HLA-A) L W 180 rs9260156 Benign
12194 P04439 (HLA-A) A V 182 - Benign
12195 P04439 (HLA-A) D E 185 rs1059542 Benign
12196 P04439 (HLA-A) T E 187 - Benign
12197 P04439 (HLA-A) T R 187 - Benign
12198 P04439 (HLA-A) E D 190 rs879577815 Benign
12199 P04439 (HLA-A) W G 191 rs3098019 Benign
12200 P04439 (HLA-A) Y H 195 - Benign
12201 P04439 (HLA-A) P A 208 - Benign
12202 P04439 (HLA-A) K R 210 - Benign
12203 P04439 (HLA-A) P A 217 - Benign
12204 P04439 (HLA-A) I V 218 - Benign
12205 P04439 (HLA-A) G S 231 - Benign
12206 P04439 (HLA-A) A V 269 - Benign
12207 P04439 (HLA-A) A S 270 - Benign
12208 P04439 (HLA-A) E K 277 - Benign
12209 P04439 (HLA-A) E Q 277 - Benign
12210 P04439 (HLA-A) Q K 279 - Benign
12211 P04439 (HLA-A) K E 292 - Benign
12212 P04439 (HLA-A) L P 300 - Benign
12213 P04439 (HLA-A) I V 306 - Benign
12214 P04439 (HLA-A) P H 307 - Benign
12215 P04439 (HLA-A) I L 312 - Benign
12216 P04439 (HLA-A) L F 318 - Benign
12217 P04439 (HLA-A) V M 321 - Benign
12218 P04439 (HLA-A) I F 322 - Benign
12219 P04439 (HLA-A) T A 323 - Benign
12220 P04439 (HLA-A) M R 331 - Benign
12221 P04439 (HLA-A) R K 334 - Benign
12222 P04439 (HLA-A) K N 335 - Benign
12223 P04439 (HLA-A) D V 338 - Benign
12224 P04439 (HLA-A) T S 345 - Benign
12225 P04439 (HLA-A) V M 358 - Benign
12226 P04440 (HLA-DPB1) T M 16 rs41558014 Benign
12227 P04440 (HLA-DPB1) T I 24 rs11551416 Benign
12228 P04440 (HLA-DPB1) R P 30 - Benign
12229 P04440 (HLA-DPB1) A L 31 - Benign
12230 P04440 (HLA-DPB1) T P 32 - Benign
12231 P04440 (HLA-DPB1) P A 33 - Benign
12232 P04440 (HLA-DPB1) L V 37 rs1126504 Benign
12233 P04440 (HLA-DPB1) F D 38 - Benign
12234 P04440 (HLA-DPB1) F H 38 - Benign
12235 P04440 (HLA-DPB1) F L 38 rs12722013 Benign
12236 P04440 (HLA-DPB1) F Y 38 rs1126509 Benign
12237 P04440 (HLA-DPB1) G L 40 rs386699869 Benign
12238 P04440 (HLA-DPB1) G V 40 rs1126513 Benign
12239 P04440 (HLA-DPB1) R L 41 rs41540313 Benign
12240 P04440 (HLA-DPB1) C G 44 rs1424116907 Benign
12241 P04440 (HLA-DPB1) A P 46 rs41555313 Benign
12242 P04440 (HLA-DPB1) A T 46 rs41555313 Benign
12243 P04440 (HLA-DPB1) Y D 57 rs41553416 Benign
12244 P04440 (HLA-DPB1) R P 61 rs41561114 Benign
12245 P04440 (HLA-DPB1) E Q 62 rs12722018 Benign
12246 P04440 (HLA-DPB1) F L 64 rs9277348 Benign
12247 P04440 (HLA-DPB1) F Y 64 rs1042117 Benign
12248 P04440 (HLA-DPB1) A V 65 rs1042121 Benign
12249 P04440 (HLA-DPB1) D Y 68 rs77062860 Benign
12250 P04440 (HLA-DPB1) G W 72 rs41552915 Benign
12251 P04440 (HLA-DPB1) A D 84 rs707958 Benign
12252 P04440 (HLA-DPB1) A E 84 rs386699870 Benign
12253 P04440 (HLA-DPB1) A V 84 rs707958 Benign
12254 P04440 (HLA-DPB1) A E 85 rs1042131 Benign
12255 P04440 (HLA-DPB1) E D 86 rs1042133 Benign
12256 P04440 (HLA-DPB1) E V 86 rs41545212 Benign
12257 P04440 (HLA-DPB1) N H 89 rs41550319 Benign
12258 P04440 (HLA-DPB1) D H 93 rs41560812 Benign
12259 P04440 (HLA-DPB1) I F 94 rs1042136 Benign
12260 P04440 (HLA-DPB1) I L 94 rs1042136 Benign
12261 P04440 (HLA-DPB1) I N 94 rs41547212 Benign
12262 P04440 (HLA-DPB1) K E 98 rs1042140 Benign
12263 P04440 (HLA-DPB1) K R 98 rs12722027 Benign
12264 P04440 (HLA-DPB1) R W 99 rs41554314 Benign
12265 P04440 (HLA-DPB1) V L 101 rs41546618 Benign
12266 P04440 (HLA-DPB1) P L 102 rs41551920 Benign
12267 P04440 (HLA-DPB1) M I 105 rs1042153 Benign
12268 P04440 (HLA-DPB1) M V 105 rs1042151 Benign
12269 P04440 (HLA-DPB1) G D 113 rs1042169 Benign
12270 P04440 (HLA-DPB1) G N 113 - Benign
12271 P04440 (HLA-DPB1) G V 113 rs1042169 Benign
12272 P04440 (HLA-DPB1) G E 114 rs9277354 Benign
12273 P04440 (HLA-DPB1) P A 115 rs9277355 Benign
12274 P04440 (HLA-DPB1) M V 116 rs9277356 Benign
12275 P04440 (HLA-DPB1) R H 120 rs41541915 Benign
12276 P04440 (HLA-DPB1) R K 125 rs1126537 Benign
12277 P04440 (HLA-DPB1) T I 199 rs1042335 Benign
12278 P04440 (HLA-DPB1) L M 207 rs14362 Benign
12279 P04440 (HLA-DPB1) R Q 223 rs9276 Benign
12280 P04440 (HLA-DPB1) V M 234 rs11551421 Benign
12281 P04440 (HLA-DPB1) I T 244 rs3097675 Benign
12282 P04626 (ERBB2) W C 452 rs4252633 Benign
12283 P04626 (ERBB2) I V 654 rs1801201 Benign
12284 P04626 (ERBB2) I V 655 rs1136201 Benign
12285 P04626 (ERBB2) L S 768 rs56366519 Benign
12286 P04626 (ERBB2) P A 1170 rs1058808 Benign
12287 P04626 (ERBB2) A D 1216 rs55943169 Benign
12288 P04628 (WNT1) E D 123 - Disease: Osteogenesis imperfecta 15 (OI15) [MIM:615220]
12289 P04628 (WNT1) C F 143 - Disease: Osteogenesis imperfecta 15 (OI15) [MIM:615220]
12290 P04628 (WNT1) C G 153 - Disease: Osteogenesis imperfecta 15 (OI15) [MIM:615220]
12291 P04628 (WNT1) G C 177 - Disease: Osteogenesis imperfecta 15 (OI15) [MIM:615220]
12292 P04628 (WNT1) C G 218 rs397514702 Disease: Osteoporosis (OSTEOP) [MIM:166710]
12293 P04628 (WNT1) R W 235 rs387907359 Disease: Osteoporosis (OSTEOP) [MIM:166710]
12294 P04628 (WNT1) F C 298 - Disease: Osteogenesis imperfecta 15 (OI15) [MIM:615220]
12295 P04628 (WNT1) V F 355 rs387907358 Disease: Osteogenesis imperfecta 15 (OI15) [MIM:615220]
12296 P04629 (NTRK1) R W 6 rs201472270 Benign
12297 P04629 (NTRK1) G E 18 rs1007211 Benign
12298 P04629 (NTRK1) Q R 80 rs55891455 Benign
12299 P04629 (NTRK1) R S 85 rs543320028 Benign
12300 P04629 (NTRK1) L P 93 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12301 P04629 (NTRK1) A D 110 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12302 P04629 (NTRK1) L P 213 rs747711259 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12303 P04629 (NTRK1) T M 237 rs55909005 Benign
12304 P04629 (NTRK1) V G 238 rs56000394 Benign
12305 P04629 (NTRK1) R G 260 rs35116695 Benign
12306 P04629 (NTRK1) Y C 359 rs121964869 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12307 P04629 (NTRK1) R Q 444 rs56320207 Benign
12308 P04629 (NTRK1) R C 452 rs34900547 Benign
12309 P04629 (NTRK1) E K 492 rs144901788 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12310 P04629 (NTRK1) G E 517 rs606231467 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12311 P04629 (NTRK1) G E 522 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12312 P04629 (NTRK1) G R 522 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12313 P04629 (NTRK1) M T 566 rs55892037 Benign
12314 P04629 (NTRK1) I S 572 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12315 P04629 (NTRK1) G R 577 rs121964866 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12316 P04629 (NTRK1) M V 587 rs121964870 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12317 P04629 (NTRK1) D N 596 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12318 P04629 (NTRK1) H Y 604 rs6336 Benign
12319 P04629 (NTRK1) G V 613 rs6339 Benign
12320 P04629 (NTRK1) R Q 649 rs786205449 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12321 P04629 (NTRK1) R W 649 rs369353892 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12322 P04629 (NTRK1) R C 654 rs764992664 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12323 P04629 (NTRK1) L P 657 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12324 P04629 (NTRK1) D Y 674 rs80356677 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12325 P04629 (NTRK1) P L 695 rs121964868 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12326 P04629 (NTRK1) I T 699 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12327 P04629 (NTRK1) L P 700 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12328 P04629 (NTRK1) G S 714 rs770727871 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12329 P04629 (NTRK1) L R 717 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12330 P04629 (NTRK1) C S 763 - Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12331 P04629 (NTRK1) R C 771 rs1324983370 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12332 P04629 (NTRK1) R Q 780 rs35669708 Benign
12333 P04629 (NTRK1) R P 780 rs35669708 Disease: Congenital insensitivit y to pain with anhidrosis (CIPA) [MIM:256800]
12334 P04629 (NTRK1) V I 790 rs55948542 Benign
12335 P04632 (CAPNS1) M V 224 rs17878750 Benign
12336 P04637 (TP53) P S 47 rs1800371 Benign
12337 P04637 (TP53) P R 72 rs1042522 Benign
12338 P04637 (TP53) P L 82 rs534447939 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12339 P04637 (TP53) G C 105 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12340 P04637 (TP53) K E 132 rs747342068 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12341 P04637 (TP53) M R 133 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12342 P04637 (TP53) M T 133 rs28934873 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12343 P04637 (TP53) A P 138 rs28934875 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12344 P04637 (TP53) A S 138 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12345 P04637 (TP53) C Y 141 rs587781288 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12346 P04637 (TP53) Q L 144 rs786203071 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12347 P04637 (TP53) P S 151 rs28934874 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12348 P04637 (TP53) P T 151 rs28934874 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12349 P04637 (TP53) P L 152 rs587782705 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12350 P04637 (TP53) T N 155 rs786202752 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12351 P04637 (TP53) R H 156 rs371524413 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12352 P04637 (TP53) R G 158 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12353 P04637 (TP53) R H 158 rs587782144 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12354 P04637 (TP53) Y C 163 rs148924904 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12355 P04637 (TP53) Q K 167 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12356 P04637 (TP53) V F 172 rs1131691043 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12357 P04637 (TP53) V M 173 rs876660754 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12358 P04637 (TP53) R G 174 rs864622115 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12359 P04637 (TP53) R G 175 rs138729528 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12360 P04637 (TP53) R H 175 rs28934578 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12361 P04637 (TP53) R L 175 rs28934578 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12362 P04637 (TP53) H Y 179 rs587780070 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12363 P04637 (TP53) E K 180 rs879253911 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12364 P04637 (TP53) R C 181 rs587782596 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12365 P04637 (TP53) R H 181 rs397514495 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12366 P04637 (TP53) H R 193 rs786201838 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12367 P04637 (TP53) R P 196 rs483352697 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12368 P04637 (TP53) V M 197 rs786204041 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12369 P04637 (TP53) R P 213 rs587778720 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12370 P04637 (TP53) R Q 213 rs587778720 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12371 P04637 (TP53) V M 217 rs35163653 Benign
12372 P04637 (TP53) Y C 220 rs121912666 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12373 P04637 (TP53) S T 227 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12374 P04637 (TP53) H D 233 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12375 P04637 (TP53) Y C 234 rs587780073 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12376 P04637 (TP53) N S 235 rs144340710 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12377 P04637 (TP53) Y C 236 rs730882026 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12378 P04637 (TP53) M I 237 rs587782664 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12379 P04637 (TP53) C G 238 rs1057519981 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12380 P04637 (TP53) C S 238 rs730882005 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12381 P04637 (TP53) S F 241 rs28934573 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12382 P04637 (TP53) S T 241 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12383 P04637 (TP53) G D 244 rs1057517983 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12384 P04637 (TP53) G V 244 rs985033810 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12385 P04637 (TP53) G C 245 rs28934575 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12386 P04637 (TP53) G D 245 rs121912656 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12387 P04637 (TP53) G S 245 rs28934575 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12388 P04637 (TP53) G V 245 rs121912656 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12389 P04637 (TP53) M V 246 rs483352695 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12390 P04637 (TP53) R Q 248 rs11540652 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12391 P04637 (TP53) R W 248 rs121912651 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12392 P04637 (TP53) I M 251 rs878854074 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12393 P04637 (TP53) L P 252 rs121912653 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12394 P04637 (TP53) L Q 257 rs28934577 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12395 P04637 (TP53) E K 258 rs121912652 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12396 P04637 (TP53) L P 265 rs879253942 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12397 P04637 (TP53) R Q 267 rs587780075 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12398 P04637 (TP53) V L 272 rs121912657 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12399 P04637 (TP53) R C 273 rs121913343 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12400 P04637 (TP53) R G 273 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12401 P04637 (TP53) R H 273 rs28934576 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12402 P04637 (TP53) R L 273 rs28934576 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12403 P04637 (TP53) C Y 275 rs863224451 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12404 P04637 (TP53) P L 278 rs876659802 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12405 P04637 (TP53) P S 278 rs17849781 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12406 P04637 (TP53) P T 278 rs17849781 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12407 P04637 (TP53) D N 281 rs764146326 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12408 P04637 (TP53) R G 282 rs28934574 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12409 P04637 (TP53) R W 282 rs28934574 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12410 P04637 (TP53) R C 283 rs149633775 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12411 P04637 (TP53) E Q 285 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12412 P04637 (TP53) E A 286 rs1057519985 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12413 P04637 (TP53) R H 290 rs55819519 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12414 P04637 (TP53) R L 290 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12415 P04637 (TP53) K I 292 rs121912663 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12416 P04637 (TP53) R P 306 - Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12417 P04637 (TP53) P S 309 rs1555525012 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12418 P04637 (TP53) G V 325 rs121912659 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12419 P04637 (TP53) R C 337 rs587782529 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12420 P04637 (TP53) R H 337 rs121912664 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12421 P04637 (TP53) L P 344 rs121912662 Disease: Li-Fraumeni syndrome (LFS) [MIM:151623]
12422 P04637 (TP53) G A 360 rs35993958 Benign
12423 P04731 (MT1A) T N 27 rs11640851 Benign
12424 P04731 (MT1A) K R 51 rs8052394 Benign
12425 P04792 (HSPB1) P S 7 - Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12426 P04792 (HSPB1) G R 34 - Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12427 P04792 (HSPB1) P L 39 rs557327165 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12428 P04792 (HSPB1) E K 41 rs1393404971 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12429 P04792 (HSPB1) G D 53 rs375244209 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12430 P04792 (HSPB1) G R 84 rs770272088 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12431 P04792 (HSPB1) L M 99 rs121909113 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12432 P04792 (HSPB1) R W 127 rs29001571 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12433 P04792 (HSPB1) S F 135 rs28939680 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12434 P04792 (HSPB1) R L 136 rs863225022 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12435 P04792 (HSPB1) R W 136 rs28939681 Disease: Charcot- Marie-Tooth disease 2F (CMT2F) [MIM:606595]
12436 P04792 (HSPB1) R G 140 rs121909112 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12437 P04792 (HSPB1) K Q 141 - Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12438 P04792 (HSPB1) T I 151 rs28937568 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12439 P04792 (HSPB1) S Y 156 rs374995963 Benign
12440 P04792 (HSPB1) T A 164 - Disease: Charcot- Marie-Tooth disease 2F (CMT2F) [MIM:606595]
12441 P04792 (HSPB1) P L 182 rs28937569 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12442 P04792 (HSPB1) S L 187 rs774585320 Disease: Neuronopathy , distal hereditary motor, 2B (HMN2B) [MIM:608634]
12443 P04798 (CYP1A1) G D 45 rs4646422 Benign
12444 P04798 (CYP1A1) M V 66 rs35035798 Benign
12445 P04798 (CYP1A1) I T 78 rs17861094 Benign
12446 P04798 (CYP1A1) R W 93 rs2229150 Benign
12447 P04798 (CYP1A1) T R 173 rs28399427 Benign
12448 P04798 (CYP1A1) R W 279 rs34260157 Benign
12449 P04798 (CYP1A1) I T 286 rs4987133 Benign
12450 P04798 (CYP1A1) M I 331 rs56313657 Benign
12451 P04798 (CYP1A1) I N 448 rs72547509 Benign
12452 P04798 (CYP1A1) T N 461 rs1799814 Benign
12453 P04798 (CYP1A1) I V 462 rs1048943 Benign
12454 P04798 (CYP1A1) R C 464 rs41279188 Benign
12455 P04798 (CYP1A1) R S 464 rs41279188 Benign
12456 P04798 (CYP1A1) F V 470 rs36121583 Benign
12457 P04798 (CYP1A1) R W 477 rs56240201 Benign
12458 P04798 (CYP1A1) V M 482 rs28399429 Benign
12459 P04798 (CYP1A1) P R 492 rs28399430 Benign
12460 P04808 (RLN1) K M 28 rs397780021 Benign
12461 P04839 (CYBB) W C 18 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12462 P04839 (CYBB) G R 20 rs151344455 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12463 P04839 (CYBB) Y D 41 rs151344453 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12464 P04839 (CYBB) R M 54 rs151344479 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12465 P04839 (CYBB) R S 54 rs151344456 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12466 P04839 (CYBB) A D 55 rs151344480 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12467 P04839 (CYBB) A E 57 rs151344481 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12468 P04839 (CYBB) C R 59 rs151344457 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12469 P04839 (CYBB) C W 59 rs151344488 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12470 P04839 (CYBB) H R 101 rs137854591 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12471 P04839 (CYBB) H Y 101 rs137854594 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12472 P04839 (CYBB) H R 119 rs151344458 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12473 P04839 (CYBB) A T 156 rs137854590 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12474 P04839 (CYBB) T P 178 rs151344497 Disease: Immunodefici ency 34 (IMD34) [MIM:300645]
12475 P04839 (CYBB) G R 179 rs151344491 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12476 P04839 (CYBB) S F 193 rs151344493 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12477 P04839 (CYBB) F I 205 rs151344496 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12478 P04839 (CYBB) H Q 209 rs151344459 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12479 P04839 (CYBB) H R 209 rs151344482 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12480 P04839 (CYBB) H Y 209 rs137854587 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12481 P04839 (CYBB) H N 222 rs151344460 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12482 P04839 (CYBB) H R 222 rs151344462 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12483 P04839 (CYBB) H Y 222 rs151344460 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12484 P04839 (CYBB) G L 223 rs151344463 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12485 P04839 (CYBB) A G 224 rs151344483 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12486 P04839 (CYBB) E V 225 rs151344494 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12487 P04839 (CYBB) Q P 231 rs151344498 Disease: Immunodefici ency 34 (IMD34) [MIM:300645]
12488 P04839 (CYBB) C R 244 rs151344465 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12489 P04839 (CYBB) C S 244 rs137854589 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12490 P04839 (CYBB) C Y 244 rs137854589 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12491 P04839 (CYBB) K N 299 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12492 P04839 (CYBB) H N 303 rs137854595 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12493 P04839 (CYBB) P R 304 rs137854596 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12494 P04839 (CYBB) T P 307 rs151344489 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12495 P04839 (CYBB) E K 309 rs151344466 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12496 P04839 (CYBB) G E 322 rs151344467 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12497 P04839 (CYBB) I F 325 rs151344468 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12498 P04839 (CYBB) S P 333 rs151344469 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12499 P04839 (CYBB) H D 338 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12500 P04839 (CYBB) H Y 338 rs151344484 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12501 P04839 (CYBB) P H 339 rs151344470 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12502 P04839 (CYBB) L Q 342 rs151344495 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12503 P04839 (CYBB) S F 344 rs151344485 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12504 P04839 (CYBB) R P 356 rs151344471 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12505 P04839 (CYBB) G R 364 rs141756032 Benign
12506 P04839 (CYBB) G A 389 rs137854586 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12507 P04839 (CYBB) G E 389 rs137854586 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12508 P04839 (CYBB) M R 405 rs151344472 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12509 P04839 (CYBB) G E 408 rs151344474 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12510 P04839 (CYBB) G R 408 rs151344473 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12511 P04839 (CYBB) A G 409 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12512 P04839 (CYBB) G E 412 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12513 P04839 (CYBB) P H 415 rs137854585 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12514 P04839 (CYBB) P L 415 rs137854585 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12515 P04839 (CYBB) L P 420 rs151344486 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12516 P04839 (CYBB) S P 422 rs151344475 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12517 P04839 (CYBB) W R 453 rs151344476 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12518 P04839 (CYBB) G S 472 rs13306300 Benign
12519 P04839 (CYBB) A D 488 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12520 P04839 (CYBB) D E 500 - Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12521 P04839 (CYBB) D G 500 rs137854593 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12522 P04839 (CYBB) L R 505 rs151344490 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12523 P04839 (CYBB) W C 516 rs151344477 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12524 P04839 (CYBB) W R 516 rs151344487 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12525 P04839 (CYBB) D E 517 rs151344452 Benign
12526 P04839 (CYBB) V D 534 rs151344478 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12527 P04839 (CYBB) C R 537 rs151344454 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12528 P04839 (CYBB) L P 546 rs151344492 Disease: Granulomatou s disease, chronic, X-linked (CGD) [MIM:306400]
12529 P04844 (RPN2) L F 597 rs34951322 Benign
12530 P04920 (SLC4A2) G E 26 rs2303929 Benign
12531 P04920 (SLC4A2) E V 202 rs2229551 Benign
12532 P04920 (SLC4A2) R W 311 rs35016052 Benign
12533 P04920 (SLC4A2) L F 1204 rs34918764 Benign
12534 P04921 (GYPC) N S 8 rs121912760 Benign
12535 P04921 (GYPC) L F 14 rs121912761 Benign
12536 P04921 (GYPC) A S 23 rs774359594 Benign
12537 P04921 (GYPC) K E 124 rs28370000 Benign
12538 P05000 (IFNW1) R S 95 rs2230055 Benign
12539 P05014 (IFNA4) H P 49 rs201964250 Benign
12540 P05014 (IFNA4) A T 74 rs1062571 Benign
12541 P05014 (IFNA4) E V 137 rs3750480 Benign
12542 P05019 (IGF1) A T 115 rs17884626 Benign
12543 P05019 (IGF1) A D 187 rs6213 Benign
12544 P05023 (ATP1A1) S I 47 rs12564026 Benign
12545 P05023 (ATP1A1) L R 48 rs1553190285 Disease: Charcot- Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
12546 P05023 (ATP1A1) L R 302 - Disease: Hypomagnesem ia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]
12547 P05023 (ATP1A1) G R 303 - Disease: Hypomagnesem ia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]
12548 P05023 (ATP1A1) P A 600 rs1553192091 Disease: Charcot- Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
12549 P05023 (ATP1A1) D A 811 rs1553192783 Disease: Charcot- Marie-Tooth disease 2DD (CMT2DD) [MIM:618036]
12550 P05023 (ATP1A1) M R 859 - Disease: Hypomagnesem ia, seizures, and mental retardation 2 (HOMGSMR2) [MIM:618314]
12551 P05060 (CHGB) S T 93 rs6085324 Benign
12552 P05060 (CHGB) K N 117 rs236150 Benign
12553 P05060 (CHGB) D N 145 rs6133278 Benign
12554 P05060 (CHGB) R Q 178 rs910122 Benign
12555 P05060 (CHGB) N H 200 rs881118 Benign
12556 P05060 (CHGB) R Q 232 rs6139873 Benign
12557 P05060 (CHGB) T A 243 rs236151 Benign
12558 P05060 (CHGB) A G 353 rs236152 Benign
12559 P05060 (CHGB) P L 413 rs742710 Benign
12560 P05060 (CHGB) R H 417 rs742711 Benign
12561 P05062 (ALDOB) R W 46 rs41281039 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12562 P05062 (ALDOB) I T 74 rs781023784 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12563 P05062 (ALDOB) R S 134 rs10123355 Benign
12564 P05062 (ALDOB) C R 135 - Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12565 P05062 (ALDOB) W R 148 rs118204430 Benign
12566 P05062 (ALDOB) A P 150 rs1800546 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12567 P05062 (ALDOB) A D 175 rs76917243 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12568 P05062 (ALDOB) C R 178 - Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12569 P05062 (ALDOB) P R 185 - Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12570 P05062 (ALDOB) E Q 207 rs3739721 Benign
12571 P05062 (ALDOB) V F 222 rs1554702442 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12572 P05062 (ALDOB) L P 229 rs1554702433 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12573 P05062 (ALDOB) L P 257 rs764701775 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12574 P05062 (ALDOB) I N 268 rs10989495 Benign
12575 P05062 (ALDOB) L P 284 - Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12576 P05062 (ALDOB) R Q 304 rs145078268 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12577 P05062 (ALDOB) R W 304 rs555935217 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12578 P05062 (ALDOB) N K 335 rs78340951 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12579 P05062 (ALDOB) A V 338 rs77718928 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12580 P05062 (ALDOB) Y H 343 rs369586696 Disease: Hereditary fructose intolerance (HFI) [MIM:229600]
12581 P05067 (APP) E K 501 rs45588932 Benign
12582 P05067 (APP) E D 665 rs63750363 Benign
12583 P05067 (APP) D N 678 rs63750064 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12584 P05067 (APP) A G 692 rs63750671 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12585 P05067 (APP) E G 693 rs63751039 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12586 P05067 (APP) E K 693 rs63750579 Disease: Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
12587 P05067 (APP) E Q 693 rs63750579 Disease: Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
12588 P05067 (APP) D N 694 rs63749810 Disease: Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
12589 P05067 (APP) L V 705 rs63750921 Disease: Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714]
12590 P05067 (APP) A T 713 rs63750066 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12591 P05067 (APP) T A 714 rs63750643 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12592 P05067 (APP) T I 714 rs63750973 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12593 P05067 (APP) V M 715 rs63750734 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12594 P05067 (APP) I V 716 rs63750399 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12595 P05067 (APP) V F 717 rs63750264 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12596 P05067 (APP) V G 717 rs63749964 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12597 P05067 (APP) V I 717 rs63750264 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12598 P05067 (APP) V L 717 rs63750264 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12599 P05067 (APP) L P 723 rs63751122 Disease: Alzheimer disease 1 (AD1) [MIM:104300]
12600 P05089 (ARG1) I T 11 rs28941474 Disease: Argininemia (ARGIN) [MIM:207800]
12601 P05089 (ARG1) G D 27 rs1326930389 Disease: Argininemia (ARGIN) [MIM:207800]
12602 P05089 (ARG1) G V 74 - Disease: Argininemia (ARGIN) [MIM:207800]
12603 P05089 (ARG1) A V 125 - Disease: Argininemia (ARGIN) [MIM:207800]
12604 P05089 (ARG1) T I 134 - Disease: Argininemia (ARGIN) [MIM:207800]
12605 P05089 (ARG1) G V 138 rs104893943 Disease: Argininemia (ARGIN) [MIM:207800]
12606 P05089 (ARG1) R T 180 - Disease: Argininemia (ARGIN) [MIM:207800]
12607 P05089 (ARG1) G R 235 rs104893948 Disease: Argininemia (ARGIN) [MIM:207800]
12608 P05089 (ARG1) T S 290 rs104893942 Benign
12609 P05089 (ARG1) R Q 308 rs377280518 Disease: Argininemia (ARGIN) [MIM:207800]
12610 P05090 (APOD) F S 15 rs5952 Benign
12611 P05090 (APOD) S L 115 rs5954 Benign
12612 P05090 (APOD) T K 178 rs5955 Benign
12613 P05091 (ALDH2) E V 337 rs1062136 Benign
12614 P05091 (ALDH2) E K 496 rs769724893 Benign
12615 P05091 (ALDH2) E K 504 rs671 Benign
12616 P05093 (CYP17A1) C W 22 rs762563 Benign
12617 P05093 (CYP17A1) P L 35 - Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12618 P05093 (CYP17A1) Y S 64 rs1183147390 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12619 P05093 (CYP17A1) F C 93 rs104894146 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12620 P05093 (CYP17A1) R Q 96 rs104894153 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12621 P05093 (CYP17A1) R W 96 rs104894138 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12622 P05093 (CYP17A1) S P 106 rs104894135 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12623 P05093 (CYP17A1) F V 114 rs104894147 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12624 P05093 (CYP17A1) D V 116 rs104894148 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12625 P05093 (CYP17A1) W R 121 - Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12626 P05093 (CYP17A1) A E 174 - Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12627 P05093 (CYP17A1) N D 177 - Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12628 P05093 (CYP17A1) Y D 329 rs104894144 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12629 P05093 (CYP17A1) P T 342 rs104894137 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12630 P05093 (CYP17A1) R C 347 rs104894149 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12631 P05093 (CYP17A1) R H 347 rs61754278 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12632 P05093 (CYP17A1) R Q 358 rs104894139 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12633 P05093 (CYP17A1) R C 362 rs104894142 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12634 P05093 (CYP17A1) H L 373 rs760695410 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12635 P05093 (CYP17A1) H N 373 rs1423560123 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12636 P05093 (CYP17A1) W L 406 - Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12637 P05093 (CYP17A1) W R 406 rs104894143 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12638 P05093 (CYP17A1) F C 417 rs104894140 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12639 P05093 (CYP17A1) P L 428 rs104894145 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12640 P05093 (CYP17A1) R H 440 rs777638364 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12641 P05093 (CYP17A1) R C 496 rs1250463562 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12642 P05093 (CYP17A1) R H 496 rs763398879 Disease: Adrenal hyperplasia 5 (AH5) [MIM:202110]
12643 P05106 (ITGB3) L P 59 rs5918 Benign
12644 P05106 (ITGB3) C Y 64 rs74554539 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12645 P05106 (ITGB3) L R 66 rs36080296 Benign
12646 P05106 (ITGB3) R W 119 rs781062792 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12647 P05106 (ITGB3) Y C 141 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12648 P05106 (ITGB3) L W 143 rs121918452 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12649 P05106 (ITGB3) M R 144 rs77963874 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12650 P05106 (ITGB3) D N 145 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12651 P05106 (ITGB3) D Y 145 rs121918445 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12652 P05106 (ITGB3) M V 150 rs767548512 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12653 P05106 (ITGB3) T I 166 rs74708909 Benign
12654 P05106 (ITGB3) R Q 169 rs5917 Benign
12655 P05106 (ITGB3) S L 188 rs143146734 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12656 P05106 (ITGB3) L P 222 rs79208797 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12657 P05106 (ITGB3) R Q 240 rs121918444 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12658 P05106 (ITGB3) R W 240 rs121918446 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12659 P05106 (ITGB3) R Q 242 rs377162158 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12660 P05106 (ITGB3) D V 243 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12661 P05106 (ITGB3) G D 247 rs79560904 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12662 P05106 (ITGB3) K M 279 rs79775494 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12663 P05106 (ITGB3) L P 288 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12664 P05106 (ITGB3) H P 306 rs13306476 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12665 P05106 (ITGB3) M L 321 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12666 P05106 (ITGB3) I N 330 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12667 P05106 (ITGB3) C Y 400 rs121918449 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12668 P05106 (ITGB3) P A 433 rs121918448 Benign
12669 P05106 (ITGB3) V I 453 rs5921 Benign
12670 P05106 (ITGB3) R Q 515 rs13306487 Benign
12671 P05106 (ITGB3) C Y 532 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12672 P05106 (ITGB3) C R 568 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12673 P05106 (ITGB3) C F 586 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12674 P05106 (ITGB3) C R 586 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12675 P05106 (ITGB3) G S 598 - Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12676 P05106 (ITGB3) C R 601 rs747534508 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12677 P05106 (ITGB3) G S 605 rs144884023 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12678 P05106 (ITGB3) R C 662 rs151219882 Benign
12679 P05106 (ITGB3) D H 749 rs398122372 Disease: Bleeding disorder, platelet- type 16 (BDPLT16) [MIM:187800]
12680 P05106 (ITGB3) S P 778 rs121918447 Disease: Glanzmann thrombasthen ia (GT) [MIM:273800]
12681 P05107 (ITGB2) D N 128 rs137852615 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12682 P05107 (ITGB2) D Y 128 rs137852615 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12683 P05107 (ITGB2) S P 138 rs137852617 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12684 P05107 (ITGB2) L P 149 rs137852611 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12685 P05107 (ITGB2) G R 169 rs137852612 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12686 P05107 (ITGB2) P L 178 rs137852614 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12687 P05107 (ITGB2) K T 196 rs137852610 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12688 P05107 (ITGB2) A T 239 rs179363873 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12689 P05107 (ITGB2) G R 273 rs137852618 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12690 P05107 (ITGB2) G S 284 rs137852616 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12691 P05107 (ITGB2) D V 300 rs179363874 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12692 P05107 (ITGB2) N S 351 rs137852613 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12693 P05107 (ITGB2) Q H 354 rs235330 Benign
12694 P05107 (ITGB2) R W 586 rs5030672 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12695 P05107 (ITGB2) R C 593 rs137852609 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12696 P05107 (ITGB2) G A 716 rs179363872 Disease: Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]
12697 P05108 (CYP11A1) L W 141 rs121912813 Disease: Adrenal insufficienc y, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
12698 P05108 (CYP11A1) A V 189 rs121912811 Disease: Adrenal insufficienc y, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
12699 P05108 (CYP11A1) L P 222 rs387906601 Disease: Adrenal insufficienc y, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
12700 P05108 (CYP11A1) E K 314 rs6161 Benign
12701 P05108 (CYP11A1) R W 353 rs72547508 Disease: Adrenal insufficienc y, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
12702 P05108 (CYP11A1) A V 359 rs121912812 Disease: Adrenal insufficienc y, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
12703 P05108 (CYP11A1) V E 415 rs121912814 Disease: Adrenal insufficienc y, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]
12704 P05111 (INHA) G R 227 rs12720061 Benign
12705 P05111 (INHA) A T 257 rs12720062 Benign
12706 P05112 (IL4) C R 27 rs4986964 Benign
12707 P05120 (SERPINB2) N D 120 rs6098 Benign
12708 P05120 (SERPINB2) R H 229 rs6100 Benign
12709 P05120 (SERPINB2) G A 374 rs34066931 Benign
12710 P05120 (SERPINB2) N K 404 rs6103 Benign
12711 P05120 (SERPINB2) S C 413 rs6104 Benign
12712 P05121 (SERPINE1) A T 15 rs6092 Benign
12713 P05121 (SERPINE1) V I 17 rs6090 Benign
12714 P05121 (SERPINE1) H P 25 rs2227647 Benign
12715 P05121 (SERPINE1) R H 209 rs2227669 Benign
12716 P05121 (SERPINE1) T N 255 rs2227685 Benign
12717 P05129 (PRKCG) G R 63 - Disease: Spinocerebel lar ataxia 14 (SCA14) [MIM:605361]
12718 P05129 (PRKCG) G V 63 rs386134159 Disease: Spinocerebel lar ataxia 14 (SCA14) [MIM:605361]
12719 P05129 (PRKCG) H Y 101 rs121918511 Disease: Spinocerebel lar ataxia 14 (SCA14) [MIM:605361]
12720 P05129 (PRKCG) S P 119 rs121918512 Disease: Spinocerebel lar ataxia 14 (SCA14) [MIM:605361]
12721 P05129 (PRKCG) G D 128 rs121918513 Disease: Spinocerebel lar ataxia 14 (SCA14) [MIM:605361]
12722 P05129 (PRKCG) R C 141 - Benign
12723 P05129 (PRKCG) H Q 415 - Benign
12724 P05129 (PRKCG) A D 523 - Benign
12725 P05129 (PRKCG) R S 659 rs752933837 Benign
12726 P05141 (SLC25A5) L R 111 rs371749 Benign
12727 P05154 (SERPINA5) S G 44 rs2069975 Benign
12728 P05154 (SERPINA5) A V 55 rs6118 Benign
12729 P05154 (SERPINA5) S N 64 rs6115 Benign
12730 P05154 (SERPINA5) G V 94 rs2069976 Benign
12731 P05154 (SERPINA5) K E 105 rs6119 Benign
12732 P05154 (SERPINA5) L P 115 rs2069999 Benign
12733 P05154 (SERPINA5) P A 121 rs6120 Benign
12734 P05154 (SERPINA5) G R 217 rs6114 Benign
12735 P05155 (SERPING1) L R 11 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12736 P05155 (SERPING1) D E 39 rs11229062 Benign
12737 P05155 (SERPING1) V A 56 rs11546660 Benign
12738 P05155 (SERPING1) T A 118 rs200534715 Disease: Hereditary angioedema (HAE) [MIM:106100]
12739 P05155 (SERPING1) C Y 130 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12740 P05155 (SERPING1) Y C 154 rs281875168 Disease: Hereditary angioedema (HAE) [MIM:106100]
12741 P05155 (SERPING1) S F 170 rs281875169 Disease: Hereditary angioedema (HAE) [MIM:106100]
12742 P05155 (SERPING1) G R 184 rs281875170 Disease: Hereditary angioedema (HAE) [MIM:106100]
12743 P05155 (SERPING1) L P 230 rs281875171 Disease: Hereditary angioedema (HAE) [MIM:106100]
12744 P05155 (SERPING1) I K 232 rs281875172 Disease: Hereditary angioedema (HAE) [MIM:106100]
12745 P05155 (SERPING1) W R 265 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12746 P05155 (SERPING1) I V 274 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12747 P05155 (SERPING1) W R 299 rs281875173 Disease: Hereditary angioedema (HAE) [MIM:106100]
12748 P05155 (SERPING1) T S 308 rs1803212 Benign
12749 P05155 (SERPING1) G R 345 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12750 P05155 (SERPING1) T P 394 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12751 P05155 (SERPING1) D V 408 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12752 P05155 (SERPING1) G R 429 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12753 P05155 (SERPING1) L Q 430 rs281875174 Disease: Hereditary angioedema (HAE) [MIM:106100]
12754 P05155 (SERPING1) M T 441 rs281875175 Disease: Hereditary angioedema (HAE) [MIM:106100]
12755 P05155 (SERPING1) L P 447 rs281875176 Disease: Hereditary angioedema (HAE) [MIM:106100]
12756 P05155 (SERPING1) V E 454 rs121907949 Disease: Hereditary angioedema (HAE) [MIM:106100]
12757 P05155 (SERPING1) A E 456 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12758 P05155 (SERPING1) A T 458 rs121907947 Disease: Hereditary angioedema (HAE) [MIM:106100]
12759 P05155 (SERPING1) A V 458 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12760 P05155 (SERPING1) A V 465 rs121907950 Disease: Hereditary angioedema (HAE) [MIM:106100]
12761 P05155 (SERPING1) R C 466 rs28940870 Disease: Hereditary angioedema (HAE) [MIM:106100]
12762 P05155 (SERPING1) R H 466 rs121907948 Disease: Hereditary angioedema (HAE) [MIM:106100]
12763 P05155 (SERPING1) R L 466 rs121907948 Disease: Hereditary angioedema (HAE) [MIM:106100]
12764 P05155 (SERPING1) R S 466 rs28940870 Disease: Hereditary angioedema (HAE) [MIM:106100]
12765 P05155 (SERPING1) T P 467 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12766 P05155 (SERPING1) V E 473 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12767 P05155 (SERPING1) V G 473 rs281875177 Disease: Hereditary angioedema (HAE) [MIM:106100]
12768 P05155 (SERPING1) V M 473 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12769 P05155 (SERPING1) Q E 474 - Benign
12770 P05155 (SERPING1) F S 477 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12771 P05155 (SERPING1) V M 480 rs4926 Benign
12772 P05155 (SERPING1) L P 481 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12773 P05155 (SERPING1) L R 481 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12774 P05155 (SERPING1) P R 489 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12775 P05155 (SERPING1) G E 493 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12776 P05155 (SERPING1) G R 493 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12777 P05155 (SERPING1) D G 497 rs281875178 Disease: Hereditary angioedema (HAE) [MIM:106100]
12778 P05155 (SERPING1) P R 498 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12779 P05155 (SERPING1) P S 498 - Disease: Hereditary angioedema (HAE) [MIM:106100]
12780 P05156 (CFI) P L 64 rs773187287 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12781 P05156 (CFI) G R 119 rs141853578 Disease: Macular degeneration , age-related, 13 (ARMD13) [MIM:615439]
12782 P05156 (CFI) H R 183 rs75612300 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12783 P05156 (CFI) G A 188 - Benign
12784 P05156 (CFI) G D 243 rs121964916 Disease: Complement factor I deficiency (CFI deficiency) [MIM:610984]
12785 P05156 (CFI) G R 287 rs182078921 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12786 P05156 (CFI) T A 300 rs11098044 Benign
12787 P05156 (CFI) R W 317 rs121964917 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12788 P05156 (CFI) I T 340 rs769419740 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12789 P05156 (CFI) I L 416 rs61733901 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12790 P05156 (CFI) H L 418 rs121964912 Disease: Complement factor I deficiency (CFI deficiency) [MIM:610984]
12791 P05156 (CFI) D N 519 rs121964918 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12792 P05156 (CFI) K T 522 - Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12793 P05156 (CFI) D V 524 rs121964914 Disease: Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]
12794 P05160 (F13B) C R 25 rs1232302447 Disease: Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
12795 P05160 (F13B) M V 49 rs6002 Benign
12796 P05160 (F13B) I N 101 rs753009140 Disease: Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
12797 P05160 (F13B) R H 115 rs6003 Benign
12798 P05160 (F13B) C F 336 rs778826479 Disease: Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
12799 P05160 (F13B) I T 342 rs17514281 Benign
12800 P05160 (F13B) H R 350 rs5999 Benign
12801 P05160 (F13B) E V 388 rs5991 Benign
12802 P05160 (F13B) V E 421 - Disease: Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
12803 P05160 (F13B) P S 448 - Disease: Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
12804 P05160 (F13B) C F 450 rs121913075 Disease: Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
12805 P05160 (F13B) L P 529 rs17549671 Benign
12806 P05160 (F13B) Y S 543 rs6001 Benign
12807 P05160 (F13B) D E 569 rs6000 Benign
12808 P05161 (ISG15) S N 83 rs1921 Benign
12809 P05162 (LGALS2) V I 119 rs2235339 Benign
12810 P05164 (MPO) V F 53 rs7208693 Benign
12811 P05164 (MPO) Y C 173 rs78950939 Disease: Myeloperoxid ase deficiency (MPOD) [MIM:254600]
12812 P05164 (MPO) M T 251 rs56378716 Disease: Myeloperoxid ase deficiency (MPOD) [MIM:254600]
12813 P05164 (MPO) R W 569 rs119468010 Disease: Myeloperoxid ase deficiency (MPOD) [MIM:254600]
12814 P05164 (MPO) R C 604 rs35670089 Benign
12815 P05164 (MPO) E Q 683 rs35702888 Benign
12816 P05164 (MPO) I V 717 rs2759 Benign
12817 P05165 (PCCA) A P 75 rs794727479 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12818 P05165 (PCCA) R W 77 rs141371306 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12819 P05165 (PCCA) A T 138 rs202247814 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12820 P05165 (PCCA) I T 164 rs202247815 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12821 P05165 (PCCA) G E 197 - Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12822 P05165 (PCCA) M K 229 rs375628794 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12823 P05165 (PCCA) Q R 297 - Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12824 P05165 (PCCA) D G 368 - Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12825 P05165 (PCCA) M K 373 rs121964958 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12826 P05165 (PCCA) G V 379 rs794727087 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12827 P05165 (PCCA) C R 398 - Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12828 P05165 (PCCA) R Q 399 rs1301904623 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12829 P05165 (PCCA) P L 423 rs1443858896 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12830 P05165 (PCCA) I V 475 rs35719359 Benign
12831 P05165 (PCCA) V F 551 rs61749895 Benign
12832 P05165 (PCCA) W L 559 rs118169528 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12833 P05165 (PCCA) G R 631 rs796052018 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12834 P05165 (PCCA) G R 668 rs771438170 Disease: Propionic acidemia type I (PA-1) [MIM:606054]
12835 P05166 (PCCB) L M 17 rs200185747 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12836 P05166 (PCCB) R P 44 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12837 P05166 (PCCB) R S 67 rs747053913 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12838 P05166 (PCCB) S R 106 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12839 P05166 (PCCB) V M 107 rs1553774114 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12840 P05166 (PCCB) G D 112 rs202247818 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12841 P05166 (PCCB) G R 131 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12842 P05166 (PCCB) A P 153 rs202247819 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12843 P05166 (PCCB) R Q 165 rs1304714042 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12844 P05166 (PCCB) R W 165 rs879253815 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12845 P05166 (PCCB) E K 168 rs121964960 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12846 P05166 (PCCB) G R 188 rs746102997 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12847 P05166 (PCCB) G D 198 rs762354873 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12848 P05166 (PCCB) V D 205 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12849 P05166 (PCCB) P L 228 rs374722096 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12850 P05166 (PCCB) G V 246 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12851 P05166 (PCCB) P S 287 rs2228310 Benign
12852 P05166 (PCCB) R W 410 rs121964959 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12853 P05166 (PCCB) T I 428 rs111033542 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12854 P05166 (PCCB) I L 430 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12855 P05166 (PCCB) Y C 435 rs121964961 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12856 P05166 (PCCB) Y C 439 rs769521436 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12857 P05166 (PCCB) M T 442 - Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12858 P05166 (PCCB) A T 468 rs775563122 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12859 P05166 (PCCB) A V 497 rs142403318 Benign
12860 P05166 (PCCB) R C 512 rs186710233 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12861 P05166 (PCCB) L P 519 rs202247822 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12862 P05166 (PCCB) N D 536 rs202247823 Disease: Propionic acidemia type II (PA-2) [MIM:606054]
12863 P05177 (CYP1A2) S C 18 rs17861152 Benign
12864 P05177 (CYP1A2) F L 21 rs56160784 Benign
12865 P05177 (CYP1A2) P R 42 rs72547511 Benign
12866 P05177 (CYP1A2) G R 73 rs45565238 Benign
12867 P05177 (CYP1A2) T M 83 rs138652540 Benign
12868 P05177 (CYP1A2) D N 104 rs34067076 Benign
12869 P05177 (CYP1A2) L F 111 rs45442197 Benign
12870 P05177 (CYP1A2) E Q 168 rs72547512 Benign
12871 P05177 (CYP1A2) F L 186 rs72547513 Benign
12872 P05177 (CYP1A2) F V 205 rs45540640 Benign
12873 P05177 (CYP1A2) S C 212 rs758748797 Benign
12874 P05177 (CYP1A2) R W 281 rs45468096 Benign
12875 P05177 (CYP1A2) S R 298 rs17861157 Benign
12876 P05177 (CYP1A2) G S 299 rs35796837 Benign
12877 P05177 (CYP1A2) I V 314 rs28399418 Benign
12878 P05177 (CYP1A2) D N 348 rs56276455 Benign
12879 P05177 (CYP1A2) R Q 377 rs72547515 Benign
12880 P05177 (CYP1A2) I F 386 rs72547516 Benign
12881 P05177 (CYP1A2) C Y 406 rs55889066 Benign
12882 P05177 (CYP1A2) R W 431 rs28399424 Benign
12883 P05177 (CYP1A2) T I 438 rs45486893 Benign
12884 P05177 (CYP1A2) R H 456 rs72547517 Benign
12885 P05177 (CYP1A2) R W 457 rs34151816 Benign
12886 P05181 (CYP2E1) R H 76 rs72559710 Benign
12887 P05181 (CYP2E1) V I 179 rs6413419 Benign
12888 P05181 (CYP2E1) N D 219 rs41299426 Benign
12889 P05181 (CYP2E1) S C 366 rs41299434 Benign
12890 P05181 (CYP2E1) V I 389 rs55897648 Benign
12891 P05181 (CYP2E1) H L 457 rs28969387 Benign
12892 P05186 (ALPL) S F 17 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12893 P05186 (ALPL) Y C 28 - Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12894 P05186 (ALPL) A V 33 rs121918005 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12895 P05186 (ALPL) A V 40 rs770093969 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12896 P05186 (ALPL) A S 51 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12897 P05186 (ALPL) A V 51 rs1470389268 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12898 P05186 (ALPL) M L 62 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12899 P05186 (ALPL) M V 62 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12900 P05186 (ALPL) G R 63 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12901 P05186 (ALPL) G V 63 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12902 P05186 (ALPL) T M 68 - Disease: Hypophosphat asia childhood type (HOPSC) [MIM:241510]
12903 P05186 (ALPL) R C 71 rs121918001 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12904 P05186 (ALPL) R H 71 rs121918003 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12905 P05186 (ALPL) R P 71 rs121918003 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12906 P05186 (ALPL) R S 71 rs121918001 Disease: Hypophosphat asia childhood type (HOPSC) [MIM:241510]
12907 P05186 (ALPL) G S 75 rs1304394441 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12908 P05186 (ALPL) Q R 76 rs1057521085 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12909 P05186 (ALPL) P L 108 rs121918015 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12910 P05186 (ALPL) A T 111 rs773257111 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12911 P05186 (ALPL) A G 114 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12912 P05186 (ALPL) A T 116 rs121918013 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12913 P05186 (ALPL) G R 120 rs954135116 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12914 P05186 (ALPL) V M 128 rs1159854007 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12915 P05186 (ALPL) G R 129 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12916 P05186 (ALPL) A V 132 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12917 P05186 (ALPL) T H 134 rs786204530 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12918 P05186 (ALPL) T N 134 rs780583917 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12919 P05186 (ALPL) R H 136 rs121918011 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12920 P05186 (ALPL) T I 148 rs1376937780 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12921 P05186 (ALPL) R H 152 rs149344982 Benign
12922 P05186 (ALPL) G S 162 rs760029254 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12923 P05186 (ALPL) G V 162 rs121918012 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12924 P05186 (ALPL) N D 170 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12925 P05186 (ALPL) H R 171 rs778232217 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12926 P05186 (ALPL) H Y 171 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12927 P05186 (ALPL) A T 176 rs121918019 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12928 P05186 (ALPL) A T 177 rs199669988 Disease: Hypophosphat asia childhood type (HOPSC) [MIM:241510]
12929 P05186 (ALPL) A T 179 rs121918000 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12930 P05186 (ALPL) S L 181 rs199590449 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12931 P05186 (ALPL) R W 184 rs763159520 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12932 P05186 (ALPL) D E 189 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12933 P05186 (ALPL) E G 191 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12934 P05186 (ALPL) E K 191 rs121918007 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12935 P05186 (ALPL) C Y 201 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12936 P05186 (ALPL) Q P 207 rs121918004 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12937 P05186 (ALPL) N D 211 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12938 P05186 (ALPL) I F 212 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12939 P05186 (ALPL) G A 220 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12940 P05186 (ALPL) G V 220 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12941 P05186 (ALPL) R Q 223 rs199665722 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12942 P05186 (ALPL) R W 223 rs766076920 Disease: Hypophosphat asia childhood type (HOPSC) [MIM:241510]
12943 P05186 (ALPL) K E 224 rs1226800998 Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12944 P05186 (ALPL) E G 235 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12945 P05186 (ALPL) R S 246 rs1223142821 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12946 P05186 (ALPL) G V 249 rs121918018 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12947 P05186 (ALPL) Y H 263 rs3200254 Benign
12948 P05186 (ALPL) R H 272 rs781272386 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12949 P05186 (ALPL) R L 272 rs781272386 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12950 P05186 (ALPL) L P 275 rs1237252052 Disease: Hypophosphat asia childhood type (HOPSC) [MIM:241510]
12951 P05186 (ALPL) L F 289 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12952 P05186 (ALPL) E K 291 rs786204473 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12953 P05186 (ALPL) P T 292 rs765458125 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12954 P05186 (ALPL) D A 294 rs121918002 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12955 P05186 (ALPL) D Y 294 rs1553414079 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12956 P05186 (ALPL) M T 295 rs1220125702 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12957 P05186 (ALPL) Y D 297 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12958 P05186 (ALPL) E K 298 rs121918017 Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12959 P05186 (ALPL) L P 299 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12960 P05186 (ALPL) D V 306 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12961 P05186 (ALPL) E K 311 rs763457259 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12962 P05186 (ALPL) G R 326 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12963 P05186 (ALPL) F G 327 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12964 P05186 (ALPL) F L 327 rs121918010 Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12965 P05186 (ALPL) G D 334 rs121918009 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12966 P05186 (ALPL) G R 334 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12967 P05186 (ALPL) G R 339 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12968 P05186 (ALPL) A T 348 rs1553414563 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12969 P05186 (ALPL) E D 354 rs1553414568 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12970 P05186 (ALPL) D V 378 rs121918008 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12971 P05186 (ALPL) H R 381 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12972 P05186 (ALPL) V I 382 rs771540767 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12973 P05186 (ALPL) R C 391 rs371243939 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12974 P05186 (ALPL) R H 391 rs1442918125 Disease: Hypophosphat asia childhood type (HOPSC) [MIM:241510]
12975 P05186 (ALPL) A S 399 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12976 P05186 (ALPL) D G 406 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12977 P05186 (ALPL) T A 411 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12978 P05186 (ALPL) L M 414 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12979 P05186 (ALPL) N S 417 rs121918014 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12980 P05186 (ALPL) G A 420 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12981 P05186 (ALPL) G S 420 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12982 P05186 (ALPL) V A 423 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12983 P05186 (ALPL) G C 426 - Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12984 P05186 (ALPL) G D 426 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12985 P05186 (ALPL) Y H 436 rs121918006 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12986 P05186 (ALPL) S P 445 rs1553415041 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12987 P05186 (ALPL) R C 450 rs138690664 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12988 P05186 (ALPL) R H 450 rs150799088 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12989 P05186 (ALPL) E K 452 rs966212736 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12990 P05186 (ALPL) G R 456 rs121918016 Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12991 P05186 (ALPL) V L 459 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12992 P05186 (ALPL) V M 459 rs1054159992 Disease: Hypophosphat asia infantile type (HOPSI) [MIM:241500]
12993 P05186 (ALPL) A T 468 rs1196976671 Disease: Hypophosphat asia (HOPS) [MIM:146300]
12994 P05186 (ALPL) G S 473 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12995 P05186 (ALPL) E A 476 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12996 P05186 (ALPL) E K 476 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12997 P05186 (ALPL) N I 478 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12998 P05186 (ALPL) C S 489 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
12999 P05186 (ALPL) I F 490 - Disease: Hypophosphat asia (HOPS) [MIM:146300]
13000 P05186 (ALPL) G R 491 rs1413274209 Disease: Hypophosphat asia (HOPS) [MIM:146300]
13001 P05186 (ALPL) V A 522 rs34605986 Benign
13002 P05187 (ALPP) P L 25 rs1130335 Benign
13003 P05187 (ALPP) I L 89 rs13026692 Benign
13004 P05187 (ALPP) R P 231 rs1048988 Benign
13005 P05187 (ALPP) R H 263 rs2853378 Benign
13006 P05187 (ALPP) E G 451 rs1048994 Benign
13007 P05230 (FGF1) G E 21 rs17223632 Benign
13008 P05231 (IL6) P S 32 rs2069830 Benign
13009 P05231 (IL6) D E 162 rs13306435 Benign
13010 P05231 (IL6) D V 162 rs2069860 Benign
13011 P05305 (EDN1) V D 64 rs587777233 Disease: Question mark ears, isolated (QME) [MIM:612798]
13012 P05305 (EDN1) P H 77 rs587777232 Disease: Auriculocond ylar syndrome 3 (ARCND3) [MIM:615706]
13013 P05305 (EDN1) K E 91 rs587777231 Disease: Auriculocond ylar syndrome 3 (ARCND3) [MIM:615706]
13014 P05305 (EDN1) V I 186 rs6413478 Benign
13015 P05305 (EDN1) K N 198 rs5370 Benign
13016 P05362 (ICAM1) K M 56 rs5491 Benign
13017 P05362 (ICAM1) K N 155 rs5492 Benign
13018 P05362 (ICAM1) G R 241 rs1799969 Benign
13019 P05362 (ICAM1) V M 315 rs5495 Benign
13020 P05362 (ICAM1) P L 352 rs1801714 Benign
13021 P05362 (ICAM1) R Q 397 rs5497 Benign
13022 P05362 (ICAM1) K E 469 rs5498 Benign
13023 P05362 (ICAM1) R W 478 rs5030400 Benign
13024 P05412 (JUN) T M 297 rs9989 Benign
13025 P05413 (FABP3) K R 53 rs2228194 Benign
13026 P05452 (CLEC3B) A S 55 - Benign
13027 P05452 (CLEC3B) V M 58 - Benign
13028 P05452 (CLEC3B) G S 106 rs13963 Benign
13029 P05538 (HLA-DQB2) R Q 161 rs1049110 Benign
13030 P05538 (HLA-DQB2) S G 232 - Benign
13031 P05538 (HLA-DQB2) I V 234 - Benign
13032 P05543 (SERPINA7) S T 43 rs72554662 Benign
13033 P05543 (SERPINA7) I N 116 rs28933689 Benign
13034 P05543 (SERPINA7) A P 133 rs28933688 Benign
13035 P05543 (SERPINA7) D N 191 rs1050086 Benign
13036 P05543 (SERPINA7) A T 211 rs2234036 Benign
13037 P05543 (SERPINA7) L P 247 rs28937312 Benign
13038 P05543 (SERPINA7) L F 303 rs1804495 Benign
13039 P05543 (SERPINA7) H Y 351 rs72554659 Benign
13040 P05543 (SERPINA7) P L 383 rs72554658 Benign
13041 P05546 (SERPIND1) A T 7 rs5905 Benign
13042 P05546 (SERPIND1) H P 60 rs165867 Benign
13043 P05546 (SERPIND1) S N 87 rs34324685 Benign
13044 P05546 (SERPIND1) L V 129 rs11542069 Benign
13045 P05546 (SERPIND1) R H 208 rs5907 Disease: Thrombophili a due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
13046 P05546 (SERPIND1) K R 237 rs1042435 Benign
13047 P05546 (SERPIND1) T M 442 rs5904 Benign
13048 P05546 (SERPIND1) E K 447 rs142451096 Disease: Thrombophili a due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
13049 P05546 (SERPIND1) P L 462 rs121912420 Disease: Thrombophili a due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]
13050 P05549 (TFAP2A) L P 249 - Disease: Branchioocul ofacial syndrome (BOFS) [MIM:113620]
13051 P05549 (TFAP2A) R G 254 rs151344528 Disease: Branchioocul ofacial syndrome (BOFS) [MIM:113620]
13052 P05549 (TFAP2A) R G 255 rs121909574 Disease: Branchioocul ofacial syndrome (BOFS) [MIM:113620]
13053 P05549 (TFAP2A) G E 262 rs121909575 Disease: Branchioocul ofacial syndrome (BOFS) [MIM:113620]
13054 P05771 (PRKCB) P H 588 rs35631544 Benign
13055 P05783 (KRT18) T A 103 rs61136606 Disease: Cirrhosis (CIRRH) [MIM:215600]
13056 P05783 (KRT18) H L 128 rs57758506 Disease: Cirrhosis (CIRRH) [MIM:215600]
13057 P05783 (KRT18) S T 230 rs58472472 Benign
13058 P05783 (KRT18) R Q 261 rs57354642 Disease: Cirrhosis (CIRRH) [MIM:215600]
13059 P05783 (KRT18) G R 340 rs57370769 Disease: Cirrhosis (CIRRH) [MIM:215600]
13060 P05787 (KRT8) G V 53 rs61710484 Disease: Cirrhosis (CIRRH) [MIM:215600]
13061 P05787 (KRT8) Y C 54 - Disease: Cirrhosis (CIRRH) [MIM:215600]
13062 P05787 (KRT8) G C 62 rs11554495 Disease: Cirrhosis (CIRRH) [MIM:215600]
13063 P05787 (KRT8) I V 63 rs59536457 Benign
13064 P05787 (KRT8) R W 401 rs2277330 Benign
13065 P05787 (KRT8) S G 417 - Benign
13066 P05787 (KRT8) G D 429 rs1065648 Benign
13067 P05976 (MYL1) M R 163 - Disease: Myopathy, congenital, with fast-twitch type II fiber atrophy (MYOFTA) [MIM:618414]
13068 P05997 (COL5A2) G R 228 - Disease: Ehlers- Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010]
13069 P05997 (COL5A2) P S 460 rs35830636 Benign
13070 P05997 (COL5A2) V A 512 rs35852101 Benign
13071 P05997 (COL5A2) P L 833 rs116298748 Benign
13072 P05997 (COL5A2) R P 956 rs6434313 Benign
13073 P05997 (COL5A2) G R 963 rs1186550791 Disease: Ehlers- Danlos syndrome, classic type, 2 (EDSCL2) [MIM:130010]
13074 P05997 (COL5A2) T S 1230 rs767234623 Benign
13075 P05997 (COL5A2) D V 1432 rs141777954 Benign
13076 P06028 (GYPB) T S 22 rs199937833 Benign
13077 P06028 (GYPB) T M 48 rs7683365 Benign
13078 P06028 (GYPB) R H 54 rs370332485 Benign
13079 P06028 (GYPB) P R 58 rs374811215 Benign
13080 P06028 (GYPB) S T 84 rs1132783 Benign
13081 P06126 (CD1A) K N 22 rs3087217 Benign
13082 P06126 (CD1A) T I 30 rs2269714 Benign
13083 P06126 (CD1A) C W 68 rs2269715 Benign
13084 P06127 (CD5) P L 224 rs2241002 Benign
13085 P06127 (CD5) H R 461 rs637186 Benign
13086 P06127 (CD5) A V 471 rs2229177 Benign
13087 P06132 (UROD) K E 15 rs11541959 Benign
13088 P06132 (UROD) G E 25 rs764268015 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13089 P06132 (UROD) F L 46 rs769378741 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13090 P06132 (UROD) P L 62 rs121918060 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13091 P06132 (UROD) P L 77 rs1131147 Benign
13092 P06132 (UROD) A G 80 rs776907084 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13093 P06132 (UROD) A S 80 rs376921379 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13094 P06132 (UROD) P L 106 rs11541962 Benign
13095 P06132 (UROD) R T 113 rs11541963 Benign
13096 P06132 (UROD) V Q 134 - Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13097 P06132 (UROD) R Q 142 rs1182234844 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13098 P06132 (UROD) R P 144 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13099 P06132 (UROD) G D 156 rs762617943 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13100 P06132 (UROD) L Q 161 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13101 P06132 (UROD) M R 165 rs121918063 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13102 P06132 (UROD) E K 167 rs121918058 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13103 P06132 (UROD) G R 168 - Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13104 P06132 (UROD) G D 170 - Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13105 P06132 (UROD) R P 193 rs143823335 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13106 P06132 (UROD) L F 195 rs121918064 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13107 P06132 (UROD) L Q 216 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13108 P06132 (UROD) E K 218 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13109 P06132 (UROD) S F 219 rs982293378 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13110 P06132 (UROD) H P 220 - Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13111 P06132 (UROD) F L 229 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13112 P06132 (UROD) F L 232 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13113 P06132 (UROD) P S 235 rs141312224 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13114 P06132 (UROD) L Q 253 rs36033115 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13115 P06132 (UROD) I T 260 rs1483459837 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13116 P06132 (UROD) G E 281 rs121918057 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13117 P06132 (UROD) G V 281 rs121918057 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13118 P06132 (UROD) L R 282 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13119 P06132 (UROD) R G 292 rs121918059 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13120 P06132 (UROD) G V 303 rs17849533 Benign
13121 P06132 (UROD) G S 303 rs964670864 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13122 P06132 (UROD) N K 304 rs121918065 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13123 P06132 (UROD) Y C 311 rs121918061 Disease: Hepatoerythr opoietic porphyria (HEP) [MIM:176100]
13124 P06132 (UROD) G R 318 rs116233118 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13125 P06132 (UROD) M T 324 rs763746230 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13126 P06132 (UROD) R H 332 rs121918066 Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13127 P06132 (UROD) I T 334 - Disease: Familial porphyria cutanea tarda (FPCT) [MIM:176100]
13128 P06133 (UGT2B4) K N 40 rs41299974 Benign
13129 P06133 (UGT2B4) P T 78 rs41299976 Benign
13130 P06133 (UGT2B4) S P 80 rs41299978 Benign
13131 P06133 (UGT2B4) F L 109 - Benign
13132 P06133 (UGT2B4) V I 277 rs41300004 Benign
13133 P06133 (UGT2B4) F L 396 rs72552707 Benign
13134 P06133 (UGT2B4) D E 458 rs13119049 Benign
13135 P06133 (UGT2B4) C R 511 rs41298245 Benign
13136 P06213 (INSR) A G 2 rs7508518 Benign
13137 P06213 (INSR) N K 42 rs121913143 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13138 P06213 (INSR) V A 55 rs121913152 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13139 P06213 (INSR) I T 56 rs1555689937 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13140 P06213 (INSR) G R 58 rs52836744 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13141 P06213 (INSR) D G 86 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13142 P06213 (INSR) L P 89 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13143 P06213 (INSR) R P 113 rs121913153 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13144 P06213 (INSR) A V 119 rs1347473020 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13145 P06213 (INSR) L Q 120 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13146 P06213 (INSR) I M 146 rs121913159 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13147 P06213 (INSR) V L 167 rs938519025 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13148 P06213 (INSR) Y H 171 rs1051692 Benign
13149 P06213 (INSR) P L 220 rs749094324 Benign
13150 P06213 (INSR) H R 236 rs121913145 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13151 P06213 (INSR) R C 256 rs781007453 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13152 P06213 (INSR) L P 260 rs121913141 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13153 P06213 (INSR) R C 279 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13154 P06213 (INSR) R H 279 rs1329693158 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13155 P06213 (INSR) C Y 280 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13156 P06213 (INSR) C Y 286 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13157 P06213 (INSR) C Y 301 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13158 P06213 (INSR) S L 350 - Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13159 P06213 (INSR) G S 386 rs764221583 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13160 P06213 (INSR) G R 393 rs267607184 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13161 P06213 (INSR) F V 409 rs121913142 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13162 P06213 (INSR) W S 439 rs121913158 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13163 P06213 (INSR) I T 448 rs1051691 Benign
13164 P06213 (INSR) N D 458 rs121913160 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13165 P06213 (INSR) K E 487 rs121913136 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13166 P06213 (INSR) N S 489 rs121913147 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13167 P06213 (INSR) Q K 492 - Benign
13168 P06213 (INSR) S L 635 - Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13169 P06213 (INSR) V F 657 rs1135401737 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13170 P06213 (INSR) W R 659 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13171 P06213 (INSR) Q R 695 rs55906835 Benign
13172 P06213 (INSR) R S 762 rs121913138 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13173 P06213 (INSR) G S 811 rs35045353 Benign
13174 P06213 (INSR) Y C 818 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13175 P06213 (INSR) P L 830 rs2162771 Benign
13176 P06213 (INSR) S I 835 rs1135401739 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13177 P06213 (INSR) A V 842 rs1135401738 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13178 P06213 (INSR) T A 858 rs182552223 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
13179 P06213 (INSR) P L 874 - Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13180 P06213 (INSR) N S 878 rs887190835 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13181 P06213 (INSR) I T 925 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13182 P06213 (INSR) R W 926 rs911929963 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13183 P06213 (INSR) T M 937 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13184 P06213 (INSR) P T 997 - Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13185 P06213 (INSR) V M 1012 rs1799816 Benign
13186 P06213 (INSR) R Q 1020 rs121913148 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13187 P06213 (INSR) I F 1023 - Benign
13188 P06213 (INSR) G V 1035 rs121913135 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13189 P06213 (INSR) A V 1055 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13190 P06213 (INSR) L V 1065 rs56395521 Benign
13191 P06213 (INSR) A D 1075 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13192 P06213 (INSR) K E 1095 rs909008899 Benign
13193 P06213 (INSR) R W 1119 rs1229730671 Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13194 P06213 (INSR) I T 1143 - Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13195 P06213 (INSR) R Q 1158 - Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
13196 P06213 (INSR) R W 1158 rs111993466 Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13197 P06213 (INSR) A T 1161 rs121913139 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13198 P06213 (INSR) A E 1162 rs121913154 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13199 P06213 (INSR) M I 1180 rs121913157 Benign
13200 P06213 (INSR) R Q 1191 rs121913150 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
13201 P06213 (INSR) R Q 1201 rs121913156 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13202 P06213 (INSR) R W 1201 - Disease: Rabson- Mendenhall syndrome (RMS) [MIM:262190]
13203 P06213 (INSR) P L 1205 rs1295645322 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13204 P06213 (INSR) E D 1206 - Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13205 P06213 (INSR) E K 1206 - Disease: Leprechaunis m (LEPRCH) [MIM:246200]
13206 P06213 (INSR) W L 1220 rs52800171 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13207 P06213 (INSR) W S 1227 rs121913140 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13208 P06213 (INSR) T A 1282 rs55875349 Benign
13209 P06213 (INSR) Y C 1361 rs13306449 Benign
13210 P06213 (INSR) R Q 1378 rs52826008 Disease: Insulin- resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
13211 P06239 (LCK) G S 201 rs11567841 Benign
13212 P06239 (LCK) L P 341 rs587777335 Disease: Immunodefici ency 22 (IMD22) [MIM:615758]
13213 P06241 (FYN) I F 445 rs1801121 Benign
13214 P06241 (FYN) D E 506 rs28763975 Benign
13215 P06276 (BCHE) K R 40 rs116047990 Benign
13216 P06276 (BCHE) T M 52 rs56309853 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13217 P06276 (BCHE) F I 56 rs531738678 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13218 P06276 (BCHE) Y C 61 rs116097205 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13219 P06276 (BCHE) A V 62 rs1553778274 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13220 P06276 (BCHE) P S 65 rs148170012 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13221 P06276 (BCHE) D G 98 rs1799807 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13222 P06276 (BCHE) D H 98 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13223 P06276 (BCHE) G R 103 rs979653503 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13224 P06276 (BCHE) E D 118 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13225 P06276 (BCHE) N Y 124 rs1339128583 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13226 P06276 (BCHE) I M 127 rs755600722 Benign
13227 P06276 (BCHE) P S 128 rs3732880 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13228 P06276 (BCHE) G D 143 rs201820739 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13229 P06276 (BCHE) L F 153 rs747598704 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13230 P06276 (BCHE) Y C 156 rs121918558 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13231 P06276 (BCHE) V M 170 rs527843566 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13232 P06276 (BCHE) D E 198 rs781368801 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13233 P06276 (BCHE) S G 226 rs370077923 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13234 P06276 (BCHE) A V 227 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13235 P06276 (BCHE) A T 229 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13236 P06276 (BCHE) V D 232 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13237 P06276 (BCHE) T M 271 rs28933389 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13238 P06276 (BCHE) T P 278 rs892642457 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13239 P06276 (BCHE) E D 283 rs16849700 Benign
13240 P06276 (BCHE) K R 295 rs115624085 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13241 P06276 (BCHE) V M 322 rs754644618 Benign
13242 P06276 (BCHE) L P 335 rs104893684 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13243 P06276 (BCHE) A D 356 rs770337031 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13244 P06276 (BCHE) L I 358 rs121918557 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13245 P06276 (BCHE) G C 361 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13246 P06276 (BCHE) G R 393 rs115129687 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13247 P06276 (BCHE) R C 414 rs745364489 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13248 P06276 (BCHE) G V 418 rs28933390 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13249 P06276 (BCHE) F S 446 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13250 P06276 (BCHE) E K 488 rs200998515 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13251 P06276 (BCHE) R W 498 rs115017300 Benign
13252 P06276 (BCHE) W R 499 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13253 P06276 (BCHE) F L 502 rs769316835 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13254 P06276 (BCHE) E V 525 rs121918556 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13255 P06276 (BCHE) R C 543 rs199660374 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13256 P06276 (BCHE) Q L 546 - Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13257 P06276 (BCHE) A T 567 rs1803274 Disease: Butyrylcholi nesterase deficiency (BCHED) [MIM:617936]
13258 P06280 (GLA) L P 3 rs150547672 Benign
13259 P06280 (GLA) L V 3 rs869312133 Benign
13260 P06280 (GLA) A D 20 rs869312134 Disease: Fabry disease (FD) [MIM:301500]
13261 P06280 (GLA) A P 20 rs104894847 Disease: Fabry disease (FD) [MIM:301500]
13262 P06280 (GLA) L P 21 rs869312135 Disease: Fabry disease (FD) [MIM:301500]
13263 P06280 (GLA) A V 31 rs869312448 Disease: Fabry disease (FD) [MIM:301500]
13264 P06280 (GLA) L P 32 - Disease: Fabry disease (FD) [MIM:301500]
13265 P06280 (GLA) N S 34 rs104894835 Disease: Fabry disease (FD) [MIM:301500]
13266 P06280 (GLA) G R 35 - Disease: Fabry disease (FD) [MIM:301500]
13267 P06280 (GLA) L W 36 rs869312138 Disease: Fabry disease (FD) [MIM:301500]
13268 P06280 (GLA) P L 40 - Disease: Fabry disease (FD) [MIM:301500]
13269 P06280 (GLA) P S 40 rs104894831 Disease: Fabry disease (FD) [MIM:301500]
13270 P06280 (GLA) M L 42 rs797044613 Disease: Fabry disease (FD) [MIM:301500]
13271 P06280 (GLA) M T 42 rs398123201 Disease: Fabry disease (FD) [MIM:301500]
13272 P06280 (GLA) M V 42 - Disease: Fabry disease (FD) [MIM:301500]
13273 P06280 (GLA) G R 43 - Disease: Fabry disease (FD) [MIM:301500]
13274 P06280 (GLA) L P 45 - Disease: Fabry disease (FD) [MIM:301500]
13275 P06280 (GLA) H P 46 - Disease: Fabry disease (FD) [MIM:301500]
13276 P06280 (GLA) H R 46 rs398123203 Disease: Fabry disease (FD) [MIM:301500]
13277 P06280 (GLA) H Y 46 - Disease: Fabry disease (FD) [MIM:301500]
13278 P06280 (GLA) W G 47 - Disease: Fabry disease (FD) [MIM:301500]
13279 P06280 (GLA) W R 47 - Disease: Fabry disease (FD) [MIM:301500]
13280 P06280 (GLA) E D 48 rs869312254 Disease: Fabry disease (FD) [MIM:301500]
13281 P06280 (GLA) R L 49 - Disease: Fabry disease (FD) [MIM:301500]
13282 P06280 (GLA) R P 49 rs398123205 Disease: Fabry disease (FD) [MIM:301500]
13283 P06280 (GLA) R S 49 - Disease: Fabry disease (FD) [MIM:301500]
13284 P06280 (GLA) C R 52 rs1057521047 Disease: Fabry disease (FD) [MIM:301500]
13285 P06280 (GLA) C S 52 rs869312256 Disease: Fabry disease (FD) [MIM:301500]
13286 P06280 (GLA) C F 56 rs869312258 Disease: Fabry disease (FD) [MIM:301500]
13287 P06280 (GLA) C G 56 rs104894836 Disease: Fabry disease (FD) [MIM:301500]
13288 P06280 (GLA) C Y 56 rs869312258 Disease: Fabry disease (FD) [MIM:301500]
13289 P06280 (GLA) E K 59 - Disease: Fabry disease (FD) [MIM:301500]
13290 P06280 (GLA) I F 64 rs869312139 Disease: Fabry disease (FD) [MIM:301500]
13291 P06280 (GLA) S T 65 rs104894848 Disease: Fabry disease (FD) [MIM:301500]
13292 P06280 (GLA) E Q 66 rs104894833 Disease: Fabry disease (FD) [MIM:301500]
13293 P06280 (GLA) E G 71 rs781927744 Benign
13294 P06280 (GLA) M V 72 - Disease: Fabry disease (FD) [MIM:301500]
13295 P06280 (GLA) G D 85 - Disease: Fabry disease (FD) [MIM:301500]
13296 P06280 (GLA) Y C 86 - Disease: Fabry disease (FD) [MIM:301500]
13297 P06280 (GLA) Y H 86 rs869312140 Disease: Fabry disease (FD) [MIM:301500]
13298 P06280 (GLA) L P 89 - Disease: Fabry disease (FD) [MIM:301500]
13299 P06280 (GLA) L R 89 - Disease: Fabry disease (FD) [MIM:301500]
13300 P06280 (GLA) I N 91 rs869312141 Disease: Fabry disease (FD) [MIM:301500]
13301 P06280 (GLA) I T 91 rs869312141 Disease: Fabry disease (FD) [MIM:301500]
13302 P06280 (GLA) D H 92 - Disease: Fabry disease (FD) [MIM:301500]
13303 P06280 (GLA) D Y 92 rs886041315 Disease: Fabry disease (FD) [MIM:301500]
13304 P06280 (GLA) D G 93 - Disease: Fabry disease (FD) [MIM:301500]
13305 P06280 (GLA) D N 93 rs869312270 Disease: Fabry disease (FD) [MIM:301500]
13306 P06280 (GLA) C S 94 - Disease: Fabry disease (FD) [MIM:301500]
13307 P06280 (GLA) C Y 94 rs113173389 Disease: Fabry disease (FD) [MIM:301500]
13308 P06280 (GLA) W S 95 - Disease: Fabry disease (FD) [MIM:301500]
13309 P06280 (GLA) A V 97 - Disease: Fabry disease (FD) [MIM:301500]
13310 P06280 (GLA) R K 100 rs869312273 Disease: Fabry disease (FD) [MIM:301500]
13311 P06280 (GLA) R T 100 - Disease: Fabry disease (FD) [MIM:301500]
13312 P06280 (GLA) R C 112 rs104894834 Disease: Fabry disease (FD) [MIM:301500]
13313 P06280 (GLA) R H 112 rs372966991 Disease: Fabry disease (FD) [MIM:301500]
13314 P06280 (GLA) R S 112 - Disease: Fabry disease (FD) [MIM:301500]
13315 P06280 (GLA) F L 113 rs869312142 Disease: Fabry disease (FD) [MIM:301500]
13316 P06280 (GLA) F S 113 - Disease: Fabry disease (FD) [MIM:301500]
13317 P06280 (GLA) L V 120 - Disease: Fabry disease (FD) [MIM:301500]
13318 P06280 (GLA) G E 128 - Disease: Fabry disease (FD) [MIM:301500]
13319 P06280 (GLA) L P 131 rs869312298 Disease: Fabry disease (FD) [MIM:301500]
13320 P06280 (GLA) Y S 134 - Disease: Fabry disease (FD) [MIM:301500]
13321 P06280 (GLA) A V 135 - Disease: Fabry disease (FD) [MIM:301500]
13322 P06280 (GLA) G R 138 - Disease: Fabry disease (FD) [MIM:301500]
13323 P06280 (GLA) C R 142 rs886044845 Disease: Fabry disease (FD) [MIM:301500]
13324 P06280 (GLA) C Y 142 - Disease: Fabry disease (FD) [MIM:301500]
13325 P06280 (GLA) A P 143 rs104894845 Disease: Fabry disease (FD) [MIM:301500]
13326 P06280 (GLA) G V 144 - Disease: Fabry disease (FD) [MIM:301500]
13327 P06280 (GLA) P S 146 rs104894837 Disease: Fabry disease (FD) [MIM:301500]
13328 P06280 (GLA) S N 148 rs1555985829 Disease: Fabry disease (FD) [MIM:301500]
13329 P06280 (GLA) S R 148 - Disease: Fabry disease (FD) [MIM:301500]
13330 P06280 (GLA) I T 154 rs869312143 Benign
13331 P06280 (GLA) A T 156 rs28935195 Disease: Fabry disease (FD) [MIM:301500]
13332 P06280 (GLA) A V 156 rs869312307 Disease: Fabry disease (FD) [MIM:301500]
13333 P06280 (GLA) W C 162 rs869312311 Disease: Fabry disease (FD) [MIM:301500]
13334 P06280 (GLA) W R 162 rs28935196 Disease: Fabry disease (FD) [MIM:301500]
13335 P06280 (GLA) G V 163 - Disease: Fabry disease (FD) [MIM:301500]
13336 P06280 (GLA) V G 164 - Disease: Fabry disease (FD) [MIM:301500]
13337 P06280 (GLA) D V 165 - Disease: Fabry disease (FD) [MIM:301500]
13338 P06280 (GLA) L V 166 - Disease: Fabry disease (FD) [MIM:301500]
13339 P06280 (GLA) L Q 167 - Disease: Fabry disease (FD) [MIM:301500]
13340 P06280 (GLA) D V 170 - Disease: Fabry disease (FD) [MIM:301500]
13341 P06280 (GLA) G D 171 - Disease: Fabry disease (FD) [MIM:301500]
13342 P06280 (GLA) C R 172 - Disease: Fabry disease (FD) [MIM:301500]
13343 P06280 (GLA) C Y 172 rs869312318 Disease: Fabry disease (FD) [MIM:301500]
13344 P06280 (GLA) G D 183 - Disease: Fabry disease (FD) [MIM:301500]
13345 P06280 (GLA) M I 187 rs869312146 Disease: Fabry disease (FD) [MIM:301500]
13346 P06280 (GLA) M V 187 rs869312340 Disease: Fabry disease (FD) [MIM:301500]
13347 P06280 (GLA) S F 201 - Disease: Fabry disease (FD) [MIM:301500]
13348 P06280 (GLA) C W 202 rs104894838 Disease: Fabry disease (FD) [MIM:301500]
13349 P06280 (GLA) C Y 202 rs869312344 Disease: Fabry disease (FD) [MIM:301500]
13350 P06280 (GLA) W R 204 rs869312148 Disease: Fabry disease (FD) [MIM:301500]
13351 P06280 (GLA) P T 205 rs397515870 Disease: Fabry disease (FD) [MIM:301500]
13352 P06280 (GLA) N S 215 rs28935197 Disease: Fabry disease (FD) [MIM:301500]
13353 P06280 (GLA) Y D 216 - Disease: Fabry disease (FD) [MIM:301500]
13354 P06280 (GLA) I N 219 - Disease: Fabry disease (FD) [MIM:301500]
13355 P06280 (GLA) I T 219 - Disease: Fabry disease (FD) [MIM:301500]
13356 P06280 (GLA) C G 223 rs869312381 Disease: Fabry disease (FD) [MIM:301500]
13357 P06280 (GLA) N D 224 rs1555985175 Disease: Fabry disease (FD) [MIM:301500]
13358 P06280 (GLA) N S 224 rs869312383 Disease: Fabry disease (FD) [MIM:301500]
13359 P06280 (GLA) W R 226 - Disease: Fabry disease (FD) [MIM:301500]
13360 P06280 (GLA) R P 227 rs104894840 Disease: Fabry disease (FD) [MIM:301500]
13361 P06280 (GLA) R Q 227 rs104894840 Disease: Fabry disease (FD) [MIM:301500]
13362 P06280 (GLA) A T 230 - Disease: Fabry disease (FD) [MIM:301500]
13363 P06280 (GLA) D N 231 - Disease: Fabry disease (FD) [MIM:301500]
13364 P06280 (GLA) D E 234 - Disease: Fabry disease (FD) [MIM:301500]
13365 P06280 (GLA) S C 235 rs797044746 Disease: Fabry disease (FD) [MIM:301500]
13366 P06280 (GLA) W C 236 rs869312386 Disease: Fabry disease (FD) [MIM:301500]
13367 P06280 (GLA) W L 236 - Disease: Fabry disease (FD) [MIM:301500]
13368 P06280 (GLA) I N 242 - Disease: Fabry disease (FD) [MIM:301500]
13369 P06280 (GLA) D H 244 - Disease: Fabry disease (FD) [MIM:301500]
13370 P06280 (GLA) D N 244 rs727503948 Disease: Fabry disease (FD) [MIM:301500]
13371 P06280 (GLA) S P 247 rs869312393 Disease: Fabry disease (FD) [MIM:301500]
13372 P06280 (GLA) G R 258 - Disease: Fabry disease (FD) [MIM:301500]
13373 P06280 (GLA) P L 259 rs869312399 Disease: Fabry disease (FD) [MIM:301500]
13374 P06280 (GLA) P R 259 rs869312399 Disease: Fabry disease (FD) [MIM:301500]
13375 P06280 (GLA) G A 260 - Disease: Fabry disease (FD) [MIM:301500]
13376 P06280 (GLA) G D 261 - Disease: Fabry disease (FD) [MIM:301500]
13377 P06280 (GLA) W R 262 rs869312154 Disease: Fabry disease (FD) [MIM:301500]
13378 P06280 (GLA) N S 263 rs869312404 Disease: Fabry disease (FD) [MIM:301500]
13379 P06280 (GLA) D V 264 rs28935486 Disease: Fabry disease (FD) [MIM:301500]
13380 P06280 (GLA) D Y 264 rs190347120 Disease: Fabry disease (FD) [MIM:301500]
13381 P06280 (GLA) P R 265 - Disease: Fabry disease (FD) [MIM:301500]
13382 P06280 (GLA) D H 266 - Disease: Fabry disease (FD) [MIM:301500]
13383 P06280 (GLA) D N 266 rs869312407 Disease: Fabry disease (FD) [MIM:301500]
13384 P06280 (GLA) D V 266 rs28935487 Disease: Fabry disease (FD) [MIM:301500]
13385 P06280 (GLA) M I 267 rs730880451 Disease: Fabry disease (FD) [MIM:301500]
13386 P06280 (GLA) V A 269 rs28935488 Disease: Fabry disease (FD) [MIM:301500]
13387 P06280 (GLA) V G 269 rs28935488 Disease: Fabry disease (FD) [MIM:301500]
13388 P06280 (GLA) N K 272 - Disease: Fabry disease (FD) [MIM:301500]
13389 P06280 (GLA) N S 272 rs28935495 Disease: Fabry disease (FD) [MIM:301500]
13390 P06280 (GLA) S G 276 rs869312432 Disease: Fabry disease (FD) [MIM:301500]
13391 P06280 (GLA) Q E 279 rs28935485 Disease: Fabry disease (FD) [MIM:301500]
13392 P06280 (GLA) Q H 279 - Disease: Fabry disease (FD) [MIM:301500]
13393 P06280 (GLA) Q H 280 - Disease: Fabry disease (FD) [MIM:301500]
13394 P06280 (GLA) M T 284 - Disease: Fabry disease (FD) [MIM:301500]
13395 P06280 (GLA) A P 285 - Disease: Fabry disease (FD) [MIM:301500]
13396 P06280 (GLA) W C 287 - Disease: Fabry disease (FD) [MIM:301500]
13397 P06280 (GLA) W G 287 - Disease: Fabry disease (FD) [MIM:301500]
13398 P06280 (GLA) A D 288 rs869312437 Disease: Fabry disease (FD) [MIM:301500]
13399 P06280 (GLA) I V 289 rs140329381 Benign
13400 P06280 (GLA) I F 289 rs140329381 Disease: Fabry disease (FD) [MIM:301500]
13401 P06280 (GLA) M I 296 rs104894846 Disease: Fabry disease (FD) [MIM:301500]
13402 P06280 (GLA) M V 296 rs104894830 Disease: Fabry disease (FD) [MIM:301500]
13403 P06280 (GLA) S F 297 rs28935489 Disease: Fabry disease (FD) [MIM:301500]
13404 P06280 (GLA) N H 298 - Disease: Fabry disease (FD) [MIM:301500]
13405 P06280 (GLA) N K 298 - Disease: Fabry disease (FD) [MIM:301500]
13406 P06280 (GLA) N S 298 - Disease: Fabry disease (FD) [MIM:301500]
13407 P06280 (GLA) L F 300 - Disease: Fabry disease (FD) [MIM:301500]
13408 P06280 (GLA) R Q 301 rs104894828 Disease: Fabry disease (FD) [MIM:301500]
13409 P06280 (GLA) D N 313 rs28935490 Benign
13410 P06280 (GLA) D Y 313 rs28935490 Disease: Fabry disease (FD) [MIM:301500]
13411 P06280 (GLA) V E 316 - Disease: Fabry disease (FD) [MIM:301500]
13412 P06280 (GLA) I S 317 rs869312158 Disease: Fabry disease (FD) [MIM:301500]
13413 P06280 (GLA) N K 320 - Disease: Fabry disease (FD) [MIM:301500]
13414 P06280 (GLA) N Y 320 - Disease: Fabry disease (FD) [MIM:301500]
13415 P06280 (GLA) Q E 321 rs730880439 Disease: Fabry disease (FD) [MIM:301500]
13416 P06280 (GLA) Q K 327 rs28935491 Disease: Fabry disease (FD) [MIM:301500]
13417 P06280 (GLA) Q L 327 rs869312160 Disease: Fabry disease (FD) [MIM:301500]
13418 P06280 (GLA) Q R 327 rs869312160 Disease: Fabry disease (FD) [MIM:301500]
13419 P06280 (GLA) G A 328 rs28935492 Disease: Fabry disease (FD) [MIM:301500]
13420 P06280 (GLA) G R 328 rs104894832 Disease: Fabry disease (FD) [MIM:301500]
13421 P06280 (GLA) G V 328 - Disease: Fabry disease (FD) [MIM:301500]
13422 P06280 (GLA) E K 338 - Disease: Fabry disease (FD) [MIM:301500]
13423 P06280 (GLA) W R 340 rs1555984869 Disease: Fabry disease (FD) [MIM:301500]
13424 P06280 (GLA) E K 341 rs869312214 Disease: Fabry disease (FD) [MIM:301500]
13425 P06280 (GLA) R P 342 - Disease: Fabry disease (FD) [MIM:301500]
13426 P06280 (GLA) R Q 342 rs28935493 Disease: Fabry disease (FD) [MIM:301500]
13427 P06280 (GLA) R P 356 rs869312163 Disease: Fabry disease (FD) [MIM:301500]
13428 P06280 (GLA) R Q 356 rs869312163 Disease: Fabry disease (FD) [MIM:301500]
13429 P06280 (GLA) R W 356 rs104894827 Disease: Fabry disease (FD) [MIM:301500]
13430 P06280 (GLA) E A 358 - Disease: Fabry disease (FD) [MIM:301500]
13431 P06280 (GLA) E K 358 rs797044774 Disease: Fabry disease (FD) [MIM:301500]
13432 P06280 (GLA) G C 360 rs782598150 Disease: Fabry disease (FD) [MIM:301500]
13433 P06280 (GLA) G S 360 - Disease: Fabry disease (FD) [MIM:301500]
13434 P06280 (GLA) G R 361 rs28935494 Disease: Fabry disease (FD) [MIM:301500]
13435 P06280 (GLA) R H 363 rs111422676 Disease: Fabry disease (FD) [MIM:301500]
13436 P06280 (GLA) G D 373 rs869312227 Disease: Fabry disease (FD) [MIM:301500]
13437 P06280 (GLA) G S 373 rs727504348 Disease: Fabry disease (FD) [MIM:301500]
13438 P06280 (GLA) A D 377 - Disease: Fabry disease (FD) [MIM:301500]
13439 P06280 (GLA) C Y 378 - Disease: Fabry disease (FD) [MIM:301500]
13440 P06280 (GLA) P A 409 - Disease: Fabry disease (FD) [MIM:301500]
13441 P06280 (GLA) P T 409 - Disease: Fabry disease (FD) [MIM:301500]
13442 P06280 (GLA) T A 410 rs104894852 Disease: Fabry disease (FD) [MIM:301500]
13443 P06280 (GLA) L S 414 rs869312246 Disease: Fabry disease (FD) [MIM:301500]
13444 P06307 (CCK) G E 32 rs11571848 Benign
13445 P06307 (CCK) R W 95 rs3774395 Benign
13446 P06340 (HLA-DOA) L V 99 rs41542323 Benign
13447 P06340 (HLA-DOA) R C 105 rs11575906 Benign
13448 P06396 (GSN) A T 129 rs2230287 Benign
13449 P06396 (GSN) D N 214 rs121909715 Disease: Amyloidosis 5 (AMYL5) [MIM:105120]
13450 P06396 (GSN) D Y 214 rs121909715 Disease: Amyloidosis 5 (AMYL5) [MIM:105120]
13451 P06396 (GSN) N D 231 rs11550199 Benign
13452 P06396 (GSN) R L 668 rs9696578 Benign
13453 P06400 (RB1) E Q 72 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13454 P06400 (RB1) N H 133 rs3092900 Benign
13455 P06400 (RB1) E D 137 rs3092902 Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13456 P06400 (RB1) Y H 173 - Benign
13457 P06400 (RB1) I T 185 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13458 P06400 (RB1) R G 358 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13459 P06400 (RB1) R Q 358 rs767011440 Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13460 P06400 (RB1) Q K 436 rs4151534 Benign
13461 P06400 (RB1) K Q 447 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13462 P06400 (RB1) M R 457 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13463 P06400 (RB1) R G 500 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13464 P06400 (RB1) A G 525 rs4151539 Benign
13465 P06400 (RB1) K R 530 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13466 P06400 (RB1) H Y 549 rs1050717570 Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13467 P06400 (RB1) S L 567 rs137853292 Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13468 P06400 (RB1) L F 569 rs3092895 Benign
13469 P06400 (RB1) K E 616 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13470 P06400 (RB1) A P 635 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13471 P06400 (RB1) V E 654 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13472 P06400 (RB1) L P 657 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13473 P06400 (RB1) R W 661 rs137853294 Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13474 P06400 (RB1) L P 662 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13475 P06400 (RB1) H P 673 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13476 P06400 (RB1) Q P 685 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13477 P06400 (RB1) D E 697 rs3092903 Benign
13478 P06400 (RB1) C Y 706 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13479 P06400 (RB1) C R 712 rs137853296 Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13480 P06400 (RB1) E G 746 rs3092905 Benign
13481 P06400 (RB1) N K 803 - Disease: Childhood cancer retinoblasto ma (RB) [MIM:180200]
13482 P06401 (PGR) A T 50 rs11571143 Benign
13483 P06401 (PGR) A V 120 rs11571144 Benign
13484 P06401 (PGR) P L 186 rs11571145 Benign
13485 P06401 (PGR) M R 301 rs11571146 Benign
13486 P06401 (PGR) S T 344 rs3740753 Benign
13487 P06401 (PGR) C S 347 rs11571147 Benign
13488 P06401 (PGR) A S 444 rs11571150 Benign
13489 P06401 (PGR) V L 529 rs11571151 Benign
13490 P06401 (PGR) Q P 536 rs11571152 Benign
13491 P06401 (PGR) R I 625 rs2020874 Benign
13492 P06401 (PGR) L V 651 rs11571222 Benign
13493 P06401 (PGR) V L 660 rs1042838 Benign
13494 P06401 (PGR) S L 865 rs2020880 Benign
13495 P06576 (ATP5F1B) A V 130 - Benign
13496 P06576 (ATP5F1B) E Q 274 rs1042001 Benign
13497 P06681 (C2) C Y 131 rs760744400 Disease: Complement component 2 deficiency (C2D) [MIM:217000]
13498 P06681 (C2) S F 209 rs28934590 Disease: Complement component 2 deficiency (C2D) [MIM:217000]
13499 P06681 (C2) E D 318 rs9332739 Benign
13500 P06681 (C2) G R 464 rs151340617 Disease: Complement component 2 deficiency (C2D) [MIM:217000]
13501 P06681 (C2) F L 533 rs1042664 Benign
13502 P06681 (C2) R C 734 rs4151648 Benign
13503 P06702 (S100A9) H R 20 - Benign
13504 P06703 (S100A6) H R 27 rs11974 Benign
13505 P06703 (S100A6) N S 69 rs1802581 Benign
13506 P06703 (S100A6) I T 83 rs1802582 Benign
13507 P06703 (S100A6) G D 90 rs2228293 Benign
13508 P06727 (APOA4) V M 13 rs12721041 Benign
13509 P06727 (APOA4) G S 74 rs5102 Benign
13510 P06727 (APOA4) Q H 77 rs12721042 Benign
13511 P06727 (APOA4) S N 147 rs5104 Benign
13512 P06727 (APOA4) A S 161 rs12721043 Benign
13513 P06727 (APOA4) S L 178 rs1181852696 Benign
13514 P06727 (APOA4) E K 185 rs201861136 Benign
13515 P06727 (APOA4) K E 187 rs773492545 Benign
13516 P06727 (APOA4) E K 250 rs121909576 Benign
13517 P06727 (APOA4) R Q 264 rs2238008 Benign
13518 P06727 (APOA4) R K 279 rs1042372 Benign
13519 P06727 (APOA4) R C 305 rs150264487 Benign
13520 P06727 (APOA4) V L 307 rs5108 Benign
13521 P06727 (APOA4) T S 367 rs675 Benign
13522 P06727 (APOA4) Q H 380 rs5110 Benign
13523 P06729 (CD2) H Q 266 rs699738 Benign
13524 P06729 (CD2) H N 339 rs35880225 Benign
13525 P06731 (CEACAM5) I V 80 rs12971352 Benign
13526 P06731 (CEACAM5) V A 83 rs28683503 Benign
13527 P06731 (CEACAM5) Q P 137 rs3815780 Benign
13528 P06731 (CEACAM5) A D 340 rs10407503 Benign
13529 P06731 (CEACAM5) K E 398 rs7249230 Benign
13530 P06731 (CEACAM5) R S 664 rs10423171 Benign
13531 P06731 (CEACAM5) G R 678 rs9621 Benign
13532 P06732 (CKM) E G 83 rs11559024 Benign
13533 P06732 (CKM) L V 127 rs17875653 Benign
13534 P06732 (CKM) T M 166 rs17357122 Benign
13535 P06732 (CKM) G A 243 rs17875625 Benign
13536 P06733 (ENO1) N K 177 rs11544513 Benign
13537 P06733 (ENO1) P Q 325 rs11544514 Benign
13538 P06734 (FCER2) R W 62 rs2228137 Benign
13539 P06734 (FCER2) R Q 284 rs8102872 Benign
13540 P06734 (FCER2) S F 316 - Benign
13541 P06737 (PYGL) V I 222 rs946616 Benign
13542 P06737 (PYGL) V E 231 rs1042195 Benign
13543 P06737 (PYGL) N S 339 rs113993976 Disease: Glycogen storage disease 6 (GSD6) [MIM:232700]
13544 P06737 (PYGL) N K 377 rs113993977 Disease: Glycogen storage disease 6 (GSD6) [MIM:232700]
13545 P06737 (PYGL) R P 425 rs2228499 Benign
13546 P06737 (PYGL) V G 698 rs35831273 Benign
13547 P06737 (PYGL) R S 715 rs1042210 Benign
13548 P06737 (PYGL) I L 806 rs34313873 Benign
13549 P06737 (PYGL) N S 845 rs78558135 Benign
13550 P06744 (GPI) T I 5 rs267606852 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13551 P06744 (GPI) H P 20 rs137853586 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13552 P06744 (GPI) R G 75 rs1246980119 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13553 P06744 (GPI) R W 83 rs983725326 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13554 P06744 (GPI) V M 101 rs757341382 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13555 P06744 (GPI) G S 159 rs137853582 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13556 P06744 (GPI) T I 195 rs1426869331 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13557 P06744 (GPI) I T 208 rs8191371 Benign
13558 P06744 (GPI) T M 224 rs61754634 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13559 P06744 (GPI) R H 273 rs1250029517 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13560 P06744 (GPI) S L 278 rs34306618 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13561 P06744 (GPI) A P 300 rs1435398228 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13562 P06744 (GPI) R H 308 rs2230294 Benign
13563 P06744 (GPI) L P 339 rs137853587 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13564 P06744 (GPI) Q R 343 rs267606851 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13565 P06744 (GPI) R C 347 rs758132799 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13566 P06744 (GPI) R H 347 rs137853583 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13567 P06744 (GPI) T R 375 rs267606853 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13568 P06744 (GPI) H R 389 rs139382538 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13569 P06744 (GPI) R C 472 rs1364382189 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13570 P06744 (GPI) R H 472 rs148811525 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13571 P06744 (GPI) L F 487 rs374583873 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13572 P06744 (GPI) E K 495 rs900848255 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13573 P06744 (GPI) L V 517 - Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13574 P06744 (GPI) I T 525 rs137853584 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13575 P06744 (GPI) D N 539 rs137853585 Disease: Hemolytic anemia, non- spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
13576 P06746 (POLB) P R 242 rs3136797 Benign
13577 P06753 (TPM3) A V 4 rs199474711 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13578 P06753 (TPM3) M R 9 rs80358247 Disease: Nemaline myopathy 1 (NEM1) [MIM:609284]
13579 P06753 (TPM3) S F 88 - Disease: Nemaline myopathy 1 (NEM1) [MIM:609284]
13580 P06753 (TPM3) R C 91 - Disease: -
13581 P06753 (TPM3) R P 91 rs199474713 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13582 P06753 (TPM3) L M 100 rs121964853 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13583 P06753 (TPM3) L V 100 - Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13584 P06753 (TPM3) L I 149 - Disease: Cap myopathy 1 (CAPM1) [MIM:609284]
13585 P06753 (TPM3) E A 151 - Disease: Cap myopathy 1 (CAPM1) [MIM:609284]
13586 P06753 (TPM3) R C 168 rs121964854 Disease: Nemaline myopathy 1 (NEM1) [MIM:609284]
13587 P06753 (TPM3) R G 168 rs121964854 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13588 P06753 (TPM3) R H 168 rs121964852 Disease: Nemaline myopathy 1 (NEM1) [MIM:609284]
13589 P06753 (TPM3) K E 169 rs199474715 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13590 P06753 (TPM3) E A 174 rs199474716 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13591 P06753 (TPM3) E K 241 rs199474717 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13592 P06753 (TPM3) R G 245 rs199474718 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
13593 P06753 (TPM3) R I 245 rs797046047 Disease: Cap myopathy 1 (CAPM1) [MIM:609284]
13594 P06753 (TPM3) T K 253 rs1553248515 Disease: -
13595 P06756 (ITGAV) I V 405 rs3738918 Benign
13596 P06756 (ITGAV) S A 548 rs2230615 Benign
13597 P06756 (ITGAV) V I 783 rs2230616 Benign
13598 P06858 (LPL) D N 36 rs1801177 Disease: Hyperlipidem ia, familial combined, 3 (FCHL3) [MIM:144250]
13599 P06858 (LPL) N S 70 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13600 P06858 (LPL) H Q 71 rs11542065 Benign
13601 P06858 (LPL) V L 96 rs373088068 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13602 P06858 (LPL) A T 98 rs145657341 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13603 P06858 (LPL) R S 102 rs118204073 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13604 P06858 (LPL) W G 113 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13605 P06858 (LPL) W R 113 rs118204069 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13606 P06858 (LPL) T A 128 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13607 P06858 (LPL) G R 132 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13608 P06858 (LPL) H R 163 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13609 P06858 (LPL) G E 169 rs118204063 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13610 P06858 (LPL) G S 181 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13611 P06858 (LPL) G V 181 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13612 P06858 (LPL) D G 183 rs118204064 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13613 P06858 (LPL) D H 183 rs781614031 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13614 P06858 (LPL) D N 183 rs781614031 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13615 P06858 (LPL) P R 184 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13616 P06858 (LPL) A T 185 rs748349562 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13617 P06858 (LPL) G E 186 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13618 P06858 (LPL) E G 190 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13619 P06858 (LPL) S C 199 rs118204072 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13620 P06858 (LPL) D V 201 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13621 P06858 (LPL) A T 203 rs118204056 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13622 P06858 (LPL) D E 207 rs118204076 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13623 P06858 (LPL) V I 208 rs568397156 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13624 P06858 (LPL) H D 210 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13625 P06858 (LPL) H Q 210 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13626 P06858 (LPL) G E 215 rs118204057 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13627 P06858 (LPL) G R 215 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13628 P06858 (LPL) S R 220 rs757546424 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13629 P06858 (LPL) I T 221 rs118204061 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13630 P06858 (LPL) G E 222 rs118204075 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13631 P06858 (LPL) K R 225 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13632 P06858 (LPL) V A 227 rs528243561 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13633 P06858 (LPL) D E 231 rs118204067 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13634 P06858 (LPL) I S 232 rs770601263 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13635 P06858 (LPL) P L 234 rs118204060 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13636 P06858 (LPL) C S 243 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13637 P06858 (LPL) I T 252 rs118204080 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13638 P06858 (LPL) C W 266 rs118204082 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13639 P06858 (LPL) R C 270 rs118204077 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13640 P06858 (LPL) R H 270 rs118204062 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13641 P06858 (LPL) S T 271 rs118204059 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13642 P06858 (LPL) D N 277 rs118204068 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13643 P06858 (LPL) S C 278 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13644 P06858 (LPL) L R 279 rs35414700 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13645 P06858 (LPL) L V 279 rs371282890 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13646 P06858 (LPL) S G 286 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13647 P06858 (LPL) S R 286 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13648 P06858 (LPL) A T 288 rs1800011 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13649 P06858 (LPL) Y H 289 rs1161884343 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13650 P06858 (LPL) F L 297 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13651 P06858 (LPL) L F 303 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13652 P06858 (LPL) C R 305 rs773235712 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13653 P06858 (LPL) C Y 310 rs1409123950 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13654 P06858 (LPL) L P 313 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13655 P06858 (LPL) N S 318 rs268 Disease: Hyperlipidem ia, familial combined, 3 (FCHL3) [MIM:144250]
13656 P06858 (LPL) S R 325 rs761265900 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13657 P06858 (LPL) M R 328 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13658 P06858 (LPL) M T 328 rs1181582051 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13659 P06858 (LPL) L F 330 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13660 P06858 (LPL) L P 330 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13661 P06858 (LPL) A T 361 rs118204071 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13662 P06858 (LPL) S F 365 rs546542623 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13663 P06858 (LPL) V M 370 rs298 Benign
13664 P06858 (LPL) T A 379 rs300 Benign
13665 P06858 (LPL) L V 392 rs118204078 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13666 P06858 (LPL) M R 404 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13667 P06858 (LPL) A T 427 rs5934 Benign
13668 P06858 (LPL) E K 437 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13669 P06858 (LPL) E V 437 - Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13670 P06858 (LPL) C Y 445 rs118204079 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13671 P06858 (LPL) E K 448 rs149089920 Disease: Hyperlipopro teinemia 1 (HLPP1) [MIM:238600]
13672 P06865 (HEXA) P S 25 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13673 P06865 (HEXA) L R 39 rs121907979 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13674 P06865 (HEXA) L F 127 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13675 P06865 (HEXA) L R 127 rs121907975 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13676 P06865 (HEXA) R G 166 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13677 P06865 (HEXA) R Q 170 rs121907957 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13678 P06865 (HEXA) R W 170 rs121907972 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13679 P06865 (HEXA) R C 178 rs121907953 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13680 P06865 (HEXA) R H 178 rs28941770 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13681 P06865 (HEXA) R L 178 rs28941770 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13682 P06865 (HEXA) Y H 180 rs28941771 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13683 P06865 (HEXA) V L 192 rs387906310 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13684 P06865 (HEXA) N S 196 rs753862880 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13685 P06865 (HEXA) K T 197 rs121907973 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13686 P06865 (HEXA) V M 200 rs1800429 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13687 P06865 (HEXA) H R 204 rs121907976 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13688 P06865 (HEXA) S F 210 rs121907961 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13689 P06865 (HEXA) F S 211 rs121907974 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13690 P06865 (HEXA) S F 226 rs769866128 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13691 P06865 (HEXA) R W 247 rs121907970 Benign
13692 P06865 (HEXA) R W 249 rs138058578 Benign
13693 P06865 (HEXA) G D 250 rs121907959 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13694 P06865 (HEXA) G S 250 rs1057521137 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13695 P06865 (HEXA) R H 252 rs762255098 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13696 P06865 (HEXA) R L 252 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13697 P06865 (HEXA) D H 258 rs121907971 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13698 P06865 (HEXA) G D 269 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13699 P06865 (HEXA) G S 269 rs121907954 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13700 P06865 (HEXA) S P 279 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13701 P06865 (HEXA) S I 293 rs1054374 Benign
13702 P06865 (HEXA) N S 295 rs199578185 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13703 P06865 (HEXA) M R 301 rs121907977 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13704 P06865 (HEXA) D V 314 rs1555472696 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13705 P06865 (HEXA) D N 322 rs772180415 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13706 P06865 (HEXA) D Y 322 rs772180415 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13707 P06865 (HEXA) I F 335 rs1555472604 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13708 P06865 (HEXA) V M 391 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13709 P06865 (HEXA) R P 393 rs370266293 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13710 P06865 (HEXA) N D 399 rs1800430 Benign
13711 P06865 (HEXA) W C 420 rs121907958 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13712 P06865 (HEXA) I V 436 rs1800431 Benign
13713 P06865 (HEXA) G S 454 rs121907978 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13714 P06865 (HEXA) G R 455 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13715 P06865 (HEXA) C Y 458 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13716 P06865 (HEXA) E V 462 rs863225434 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13717 P06865 (HEXA) W C 474 rs121907981 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13718 P06865 (HEXA) G R 478 rs1057519467 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13719 P06865 (HEXA) E K 482 rs121907952 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13720 P06865 (HEXA) L Q 484 - Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13721 P06865 (HEXA) W R 485 rs121907968 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13722 P06865 (HEXA) R C 499 rs121907966 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13723 P06865 (HEXA) R H 499 rs121907956 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13724 P06865 (HEXA) R C 504 rs28942071 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13725 P06865 (HEXA) R H 504 rs121907955 Disease: GM2-ganglios idosis 1 (GM2G1) [MIM:272800]
13726 P06870 (KLK1) R H 77 rs5515 Benign
13727 P06870 (KLK1) E Q 145 rs5516 Benign
13728 P06870 (KLK1) K E 186 rs5517 Benign
13729 P06870 (KLK1) V E 193 rs5518 Benign
13730 P06881 (CALCA) D N 57 rs5239 Benign
13731 P07093 (SERPINE2) I M 51 rs3795875 Benign
13732 P07098 (LIPF) T A 161 rs814628 Benign
13733 P07098 (LIPF) F I 224 rs6586145 Benign
13734 P07098 (LIPF) P T 348 rs17333991 Benign
13735 P07099 (EPHX1) R T 43 rs3738046 Benign
13736 P07099 (EPHX1) E Q 44 rs745306359 Benign
13737 P07099 (EPHX1) R C 49 rs2234697 Benign
13738 P07099 (EPHX1) Y H 113 rs1051740 Benign
13739 P07099 (EPHX1) H R 139 rs2234922 Benign
13740 P07099 (EPHX1) L P 260 - Benign
13741 P07099 (EPHX1) T A 275 rs35073925 Benign
13742 P07099 (EPHX1) V L 285 rs45449793 Benign
13743 P07099 (EPHX1) T I 396 - Benign
13744 P07099 (EPHX1) T M 408 rs45495897 Benign
13745 P07099 (EPHX1) L Q 452 rs45563137 Benign
13746 P07099 (EPHX1) R Q 454 rs2234701 Benign
13747 P07101 (TH) V M 112 rs6356 Benign
13748 P07101 (TH) C Y 207 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13749 P07101 (TH) D G 227 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13750 P07101 (TH) R H 233 rs80338892 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13751 P07101 (TH) L P 236 rs121917763 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13752 P07101 (TH) A T 241 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13753 P07101 (TH) H Y 246 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13754 P07101 (TH) G S 247 rs762304556 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13755 P07101 (TH) P L 251 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13756 P07101 (TH) E G 259 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13757 P07101 (TH) T P 276 rs28934581 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13758 P07101 (TH) C F 279 rs1273610334 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13759 P07101 (TH) G R 294 rs755536257 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13760 P07101 (TH) R Q 296 rs199961079 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13761 P07101 (TH) P A 301 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13762 P07101 (TH) F S 309 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13763 P07101 (TH) T M 314 rs121917764 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13764 P07101 (TH) G S 315 rs1288483479 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13765 P07101 (TH) R P 319 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13766 P07101 (TH) R W 328 rs1428589694 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13767 P07101 (TH) R H 337 rs28934580 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13768 P07101 (TH) C F 359 rs121917765 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13769 P07101 (TH) F L 375 rs763198914 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13770 P07101 (TH) A V 376 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13771 P07101 (TH) I T 382 rs1554922725 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13772 P07101 (TH) A V 385 rs763039181 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13773 P07101 (TH) L M 387 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13774 P07101 (TH) I T 394 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13775 P07101 (TH) T M 399 rs1057520384 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13776 P07101 (TH) G R 408 rs745551241 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13777 P07101 (TH) Q K 412 rs121917762 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13778 P07101 (TH) G R 414 rs370962049 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13779 P07101 (TH) G R 428 rs1264884607 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13780 P07101 (TH) R P 441 rs367874223 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13781 P07101 (TH) S G 467 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13782 P07101 (TH) P L 492 rs767635052 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13783 P07101 (TH) T M 494 rs45471299 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13784 P07101 (TH) D G 498 rs771351747 Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13785 P07101 (TH) V M 499 rs1800033 Benign
13786 P07101 (TH) L Q 510 - Disease: Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]
13787 P07108 (DBI) D N 39 rs8192504 Benign
13788 P07108 (DBI) M V 71 rs8192506 Benign
13789 P07108 (DBI) G R 86 rs8192507 Benign
13790 P07148 (FABP1) A T 54 rs1801273 Benign
13791 P07148 (FABP1) T A 94 rs2241883 Benign
13792 P07195 (LDHB) K E 7 rs118203897 Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13793 P07195 (LDHB) A E 35 - Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13794 P07195 (LDHB) G E 69 - Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13795 P07195 (LDHB) R W 107 rs777954556 Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13796 P07195 (LDHB) S R 129 rs118203896 Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13797 P07195 (LDHB) F V 171 - Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13798 P07195 (LDHB) R H 172 rs118203895 Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13799 P07195 (LDHB) R P 172 - Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13800 P07195 (LDHB) M V 175 rs7966339 Benign
13801 P07195 (LDHB) M L 175 - Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13802 P07195 (LDHB) D V 322 - Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13803 P07195 (LDHB) W R 325 rs267607212 Disease: Lactate dehydrogenas e B deficiency (LDHBD) [MIM:614128]
13804 P07196 (NEFL) E K 7 rs57848467 Benign
13805 P07196 (NEFL) P L 8 rs61491953 Disease: Charcot- Marie-Tooth disease 1F (CMT1F) [MIM:607734]
13806 P07196 (NEFL) P Q 8 rs61491953 Disease: Charcot- Marie-Tooth disease 1F (CMT1F) [MIM:607734]
13807 P07196 (NEFL) P R 8 rs60261494 Disease: Charcot- Marie-Tooth disease 2E (CMT2E) [MIM:607684]
13808 P07196 (NEFL) P S 22 rs28928910 Disease: Charcot- Marie-Tooth disease 2E (CMT2E) [MIM:607684]
13809 P07196 (NEFL) E K 90 rs58332872 Disease: Charcot- Marie-Tooth disease 1F (CMT1F) [MIM:607734]
13810 P07196 (NEFL) N S 98 rs58982919 Disease: Charcot- Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882]
13811 P07196 (NEFL) I M 213 rs62636522 Benign
13812 P07196 (NEFL) L P 268 rs62636502 Disease: Charcot- Marie-Tooth disease 2E (CMT2E) [MIM:607684]
13813 P07196 (NEFL) Q P 332 rs59443585 Disease: Charcot- Marie-Tooth disease 2E (CMT2E) [MIM:607684]
13814 P07196 (NEFL) E K 396 rs62636503 Disease: Charcot- Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882]
13815 P07196 (NEFL) D N 468 rs57153321 Benign
13816 P07197 (NEFM) P T 439 rs196864 Benign
13817 P07197 (NEFM) P Q 725 rs196863 Benign
13818 P07202 (TPO) A P 53 - Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13819 P07202 (TPO) D N 240 rs1427024341 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13820 P07202 (TPO) A S 257 rs4927611 Benign
13821 P07202 (TPO) N T 307 - Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13822 P07202 (TPO) A T 326 rs371367459 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13823 P07202 (TPO) A S 373 rs2280132 Benign
13824 P07202 (TPO) E K 378 rs1297312788 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13825 P07202 (TPO) S T 398 rs2175977 Benign
13826 P07202 (TPO) V M 433 rs1035791118 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13827 P07202 (TPO) I F 447 rs104893669 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13828 P07202 (TPO) Y D 453 rs121908083 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13829 P07202 (TPO) L P 458 rs1231870370 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13830 P07202 (TPO) R H 491 rs201165648 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13831 P07202 (TPO) G S 493 rs778515113 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13832 P07202 (TPO) P L 499 rs1169072188 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13833 P07202 (TPO) W C 527 rs779434941 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13834 P07202 (TPO) G C 533 - Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13835 P07202 (TPO) G S 590 rs121908084 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13836 P07202 (TPO) V M 618 rs10189135 Benign
13837 P07202 (TPO) R Q 648 rs121908086 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13838 P07202 (TPO) Q E 660 rs121908088 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13839 P07202 (TPO) R W 665 rs776742629 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13840 P07202 (TPO) R W 693 rs121908087 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13841 P07202 (TPO) M V 706 rs13431173 Benign
13842 P07202 (TPO) T P 725 rs732609 Benign
13843 P07202 (TPO) G R 771 rs138931129 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13844 P07202 (TPO) L P 793 rs28991293 Benign
13845 P07202 (TPO) D Y 796 - Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13846 P07202 (TPO) E K 799 rs121908085 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13847 P07202 (TPO) C R 808 rs935058009 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13848 P07202 (TPO) V I 839 rs146351101 Disease: Thyroid dyshormonoge nesis 2A (TDH2A) [MIM:274500]
13849 P07202 (TPO) R W 846 rs28913014 Benign
13850 P07202 (TPO) V A 847 rs1126799 Benign
13851 P07203 (GPX1) R P 5 rs8179169 Benign
13852 P07203 (GPX1) A T 194 rs6446261 Benign
13853 P07203 (GPX1) P L 200 rs1050450 Benign
13854 P07204 (THBD) D E 34 - Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13855 P07204 (THBD) A T 43 rs1800576 Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13856 P07204 (THBD) D G 53 rs121918667 Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13857 P07204 (THBD) G A 79 rs1800577 Benign
13858 P07204 (THBD) V L 81 rs772288987 Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13859 P07204 (THBD) A P 162 rs36110902 Benign
13860 P07204 (THBD) A G 236 rs758686992 Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13861 P07204 (THBD) A V 473 rs1042579 Benign
13862 P07204 (THBD) D Y 486 rs41348347 Disease: Thrombophili a due to thrombomodul in defect (THPH12) [MIM:614486]
13863 P07204 (THBD) P S 495 rs1800578 Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13864 P07204 (THBD) P L 501 rs1800579 Disease: Hemolytic uremic syndrome atypical 6 (AHUS6) [MIM:612926]
13865 P07225 (PROS1) L H 15 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13866 P07225 (PROS1) V E 18 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13867 P07225 (PROS1) R L 40 rs7614835 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13868 P07225 (PROS1) R H 41 rs963668412 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13869 P07225 (PROS1) K E 50 rs748630360 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13870 P07225 (PROS1) G D 52 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13871 P07225 (PROS1) E A 67 rs766423432 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13872 P07225 (PROS1) A D 68 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13873 P07225 (PROS1) F C 72 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13874 P07225 (PROS1) P L 76 rs73846070 Benign
13875 P07225 (PROS1) T M 78 rs6122 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13876 P07225 (PROS1) V L 87 rs557733421 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13877 P07225 (PROS1) C Y 88 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13878 P07225 (PROS1) R C 90 rs765935815 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13879 P07225 (PROS1) R H 90 rs200886866 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13880 P07225 (PROS1) G E 95 rs144526169 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13881 P07225 (PROS1) G R 95 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13882 P07225 (PROS1) T S 98 rs142805170 Benign
13883 P07225 (PROS1) R C 101 rs778731080 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13884 P07225 (PROS1) R S 111 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13885 P07225 (PROS1) C Y 121 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13886 P07225 (PROS1) D G 129 rs749024073 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13887 P07225 (PROS1) T N 144 rs146366248 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13888 P07225 (PROS1) W C 149 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13889 P07225 (PROS1) D G 157 rs751090951 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13890 P07225 (PROS1) C G 161 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13891 P07225 (PROS1) N Y 166 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13892 P07225 (PROS1) N S 168 rs144430063 Benign
13893 P07225 (PROS1) C F 175 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13894 P07225 (PROS1) C Y 186 rs779391826 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13895 P07225 (PROS1) K E 196 rs121918474 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13896 P07225 (PROS1) E G 204 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13897 P07225 (PROS1) R K 233 rs41267007 Benign
13898 P07225 (PROS1) Y C 234 rs387906675 Disease: Thrombophili a due to protein S deficiency, autosomal recessive (THPH6) [MIM:614514]
13899 P07225 (PROS1) C S 241 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13900 P07225 (PROS1) D N 243 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13901 P07225 (PROS1) D G 245 rs1211117206 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13902 P07225 (PROS1) C G 247 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13903 P07225 (PROS1) E K 249 rs1455675811 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13904 P07225 (PROS1) N S 258 rs121918473 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13905 P07225 (PROS1) C R 265 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13906 P07225 (PROS1) C W 265 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13907 P07225 (PROS1) Y C 266 rs777616039 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13908 P07225 (PROS1) C S 267 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13909 P07225 (PROS1) L P 300 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13910 P07225 (PROS1) S P 324 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13911 P07225 (PROS1) G D 336 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13912 P07225 (PROS1) G S 336 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13913 P07225 (PROS1) G V 336 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13914 P07225 (PROS1) L P 339 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13915 P07225 (PROS1) L P 351 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13916 P07225 (PROS1) R H 355 rs780863931 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13917 P07225 (PROS1) G R 357 rs941433523 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13918 P07225 (PROS1) K E 364 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13919 P07225 (PROS1) D N 376 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13920 P07225 (PROS1) G D 381 rs1223579199 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13921 P07225 (PROS1) G V 381 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13922 P07225 (PROS1) W R 383 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13923 P07225 (PROS1) M V 385 rs767653920 Benign
13924 P07225 (PROS1) E K 390 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13925 P07225 (PROS1) L P 446 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13926 P07225 (PROS1) C S 449 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13927 P07225 (PROS1) C R 475 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13928 P07225 (PROS1) G C 482 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13929 P07225 (PROS1) Y C 485 rs1323663956 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13930 P07225 (PROS1) S P 501 rs121918472 Benign
13931 P07225 (PROS1) S A 501 rs121918472 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13932 P07225 (PROS1) V G 508 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13933 P07225 (PROS1) V M 508 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13934 P07225 (PROS1) R C 515 rs199469500 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13935 P07225 (PROS1) R P 515 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13936 P07225 (PROS1) G D 521 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13937 P07225 (PROS1) A P 525 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13938 P07225 (PROS1) L S 526 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13939 P07225 (PROS1) T A 532 rs371028997 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13940 P07225 (PROS1) L S 552 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13941 P07225 (PROS1) I M 559 rs184798444 Benign
13942 P07225 (PROS1) R G 561 rs121918476 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13943 P07225 (PROS1) C Y 568 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13944 P07225 (PROS1) L R 575 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13945 P07225 (PROS1) N H 583 rs139479630 Benign
13946 P07225 (PROS1) L Q 584 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13947 P07225 (PROS1) M K 611 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13948 P07225 (PROS1) M T 611 rs750531364 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13949 P07225 (PROS1) A P 616 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13950 P07225 (PROS1) L R 622 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13951 P07225 (PROS1) T I 630 rs202190731 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13952 P07225 (PROS1) Y C 636 rs368173480 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13953 P07225 (PROS1) G D 638 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13954 P07225 (PROS1) C F 639 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13955 P07225 (PROS1) C Y 639 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13956 P07225 (PROS1) M T 640 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13957 P07225 (PROS1) I S 644 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13958 P07225 (PROS1) H P 664 - Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13959 P07225 (PROS1) S L 665 rs778685576 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13960 P07225 (PROS1) C R 666 rs1302089144 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13961 P07225 (PROS1) P L 667 rs1220553873 Disease: Thrombophili a due to protein S deficiency, autosomal dominant (THPH5) [MIM:612336]
13962 P07237 (P4HB) Y C 393 rs786204843 Disease: Cole- Carpenter syndrome 1 (CLCRP1) [MIM:112240]
13963 P07288 (KLK3) E K 32 rs2271092 Benign
13964 P07288 (KLK3) L I 132 rs2003783 Benign
13965 P07288 (KLK3) I T 179 rs17632542 Benign
13966 P07307 (ASGR2) G R 85 rs2304978 Benign
13967 P07315 (CRYGC) T P 5 rs104893618 Disease: Cataract 2, multiple types (CTRCT2) [MIM:604307]
13968 P07315 (CRYGC) F L 6 rs2242072 Benign
13969 P07315 (CRYGC) R H 48 rs61751949 Benign
13970 P07315 (CRYGC) G C 129 rs137853924 Disease: Cataract 2, multiple types (CTRCT2) [MIM:604307]
13971 P07316 (CRYGB) S I 73 - Benign
13972 P07316 (CRYGB) R T 90 rs2241980 Benign
13973 P07316 (CRYGB) I L 111 rs796287 Benign
13974 P07320 (CRYGD) R C 15 rs121909595 Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13975 P07320 (CRYGD) P S 24 rs28931605 Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13976 P07320 (CRYGD) P T 24 rs28931605 Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13977 P07320 (CRYGD) R S 37 rs121909597 Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13978 P07320 (CRYGD) W R 43 - Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13979 P07320 (CRYGD) R H 59 rs121909596 Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13980 P07320 (CRYGD) M V 102 - Benign
13981 P07320 (CRYGD) E A 107 - Disease: Cataract 4, multiple types (CTRCT4) [MIM:115700]
13982 P07332 (FES) R C 85 rs56041861 Benign
13983 P07332 (FES) R Q 246 rs34573430 Benign
13984 P07332 (FES) M V 323 rs56296062 Benign
13985 P07333 (CSF1R) V G 32 rs56048668 Benign
13986 P07333 (CSF1R) P L 132 rs1351319114 Disease: Brain abnormalitie s, neurodegener ation, and dysosteoscle rosis (BANDDOS) [MIM:618476]
13987 P07333 (CSF1R) A S 245 rs41338945 Benign
13988 P07333 (CSF1R) V M 279 rs3829986 Benign
13989 P07333 (CSF1R) H R 362 rs10079250 Benign
13990 P07333 (CSF1R) G S 413 rs34951517 Benign
13991 P07333 (CSF1R) L V 536 rs55942044 Benign
13992 P07333 (CSF1R) G E 589 rs281860268 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
13993 P07333 (CSF1R) E K 633 rs281860269 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
13994 P07333 (CSF1R) H Q 643 rs184499252 Disease: Brain abnormalitie s, neurodegener ation, and dysosteoscle rosis (BANDDOS) [MIM:618476]
13995 P07333 (CSF1R) C R 653 rs690016559 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
13996 P07333 (CSF1R) R H 710 rs201569135 Benign
13997 P07333 (CSF1R) G R 747 rs41355444 Benign
13998 P07333 (CSF1R) G D 765 rs690016566 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
13999 P07333 (CSF1R) M T 766 rs281860270 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14000 P07333 (CSF1R) A P 770 rs281860271 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14001 P07333 (CSF1R) I N 775 rs281860273 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14002 P07333 (CSF1R) A E 781 rs587777247 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14003 P07333 (CSF1R) R H 782 rs281860281 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14004 P07333 (CSF1R) I T 794 rs281860274 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14005 P07333 (CSF1R) P S 824 - Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14006 P07333 (CSF1R) D Y 837 rs387906662 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14007 P07333 (CSF1R) I F 843 rs690016558 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14008 P07333 (CSF1R) F S 849 rs281860277 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14009 P07333 (CSF1R) L P 868 rs281860278 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14010 P07333 (CSF1R) M T 875 rs281860279 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14011 P07333 (CSF1R) P T 878 rs281860280 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14012 P07333 (CSF1R) I T 906 rs690016560 Disease: Leukoencepha lopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]
14013 P07333 (CSF1R) E D 920 rs34030164 Benign
14014 P07333 (CSF1R) R Q 921 rs56059682 Benign
14015 P07333 (CSF1R) Y C 969 rs1801271 Benign
14016 P07339 (CTSD) A V 58 rs17571 Benign
14017 P07339 (CTSD) F I 229 rs121912789 Disease: Ceroid lipofuscinos is, neuronal, 10 (CLN10) [MIM:610127]
14018 P07339 (CTSD) G R 282 rs147278302 Benign
14019 P07339 (CTSD) W C 383 rs121912790 Disease: Ceroid lipofuscinos is, neuronal, 10 (CLN10) [MIM:610127]
14020 P07355 (ANXA2) V L 98 rs17845226 Benign
14021 P07357 (C8A) Q K 93 rs652785 Benign
14022 P07357 (C8A) T I 407 rs706479 Benign
14023 P07357 (C8A) D N 458 rs17114555 Benign
14024 P07357 (C8A) R L 485 rs1620075 Benign
14025 P07357 (C8A) E Q 561 rs1342440 Benign
14026 P07357 (C8A) P L 575 rs17300936 Benign
14027 P07358 (C8B) E K 108 rs12067507 Benign
14028 P07358 (C8B) R G 117 rs1013579 Benign
14029 P07358 (C8B) P L 261 rs12085435 Benign
14030 P07359 (GP1BA) R H 72 rs6068 Benign
14031 P07359 (GP1BA) L F 73 rs121908063 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
14032 P07359 (GP1BA) C R 81 rs781541857 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
14033 P07359 (GP1BA) L F 86 rs13306411 Benign
14034 P07359 (GP1BA) L P 145 rs771048666 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
14035 P07359 (GP1BA) T M 161 rs6065 Benign
14036 P07359 (GP1BA) A V 172 rs121908065 Disease: Bernard- Soulier syndrome A2, autosomal dominant (BSSA2) [MIM:153670]
14037 P07359 (GP1BA) C S 225 rs1394634674 Disease: Bernard- Soulier syndrome (BSS) [MIM:231200]
14038 P07359 (GP1BA) G S 249 - Disease: Pseudo-von Willebrand disease (VWDP) [MIM:177820]
14039 P07359 (GP1BA) G V 249 rs121908062 Disease: Pseudo-von Willebrand disease (VWDP) [MIM:177820]
14040 P07359 (GP1BA) A S 254 rs382524 Benign
14041 P07359 (GP1BA) M V 255 rs121908064 Disease: Pseudo-von Willebrand disease (VWDP) [MIM:177820]
14042 P07360 (C8G) R Q 69 rs17614 Benign
14043 P07360 (C8G) D G 118 rs7850844 Benign
14044 P07360 (C8G) H N 124 rs17613 Benign
14045 P07384 (CAPN1) T A 103 rs17885718 Benign
14046 P07384 (CAPN1) R P 295 rs756205995 Disease: Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907]
14047 P07384 (CAPN1) R P 433 rs10895991 Benign
14048 P07384 (CAPN1) G R 492 rs17883283 Benign
14049 P07384 (CAPN1) V I 676 rs17884773 Benign
14050 P07437 (TUBB) Q K 15 rs864321676 Disease: Skin creases, congenital symmetric circumferent ial, 1 (CSCSC1) [MIM:156610]
14051 P07437 (TUBB) Y F 222 rs864321677 Disease: Skin creases, congenital symmetric circumferent ial, 1 (CSCSC1) [MIM:156610]
14052 P07437 (TUBB) M V 299 rs587777355 Disease: Cortical dysplasia, complex, with other brain malformation s 6 (CDCBM6) [MIM:615771]
14053 P07437 (TUBB) V I 353 rs587777356 Disease: Cortical dysplasia, complex, with other brain malformation s 6 (CDCBM6) [MIM:615771]
14054 P07437 (TUBB) E K 401 rs587777357 Disease: Cortical dysplasia, complex, with other brain malformation s 6 (CDCBM6) [MIM:615771]
14055 P07451 (CA3) V I 31 rs20571 Benign
14056 P07476 (IVL) T A 113 rs2229496 Benign
14057 P07476 (IVL) L P 166 rs11205133 Benign
14058 P07476 (IVL) K E 174 rs12035307 Benign
14059 P07476 (IVL) E Q 227 rs11807064 Benign
14060 P07476 (IVL) P S 236 rs17855670 Benign
14061 P07476 (IVL) Q E 237 rs7520711 Benign
14062 P07476 (IVL) Q K 312 rs11205137 Benign
14063 P07476 (IVL) V L 480 rs7545520 Benign
14064 P07477 (PRSS1) A V 16 rs202003805 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14065 P07477 (PRSS1) D G 22 rs397507442 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14066 P07477 (PRSS1) K R 23 rs111033567 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14067 P07477 (PRSS1) N I 29 rs111033566 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14068 P07477 (PRSS1) N T 29 rs111033566 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14069 P07477 (PRSS1) N S 54 rs144422014 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14070 P07477 (PRSS1) E K 79 rs111033564 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14071 P07477 (PRSS1) L P 104 rs1554499091 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14072 P07477 (PRSS1) R C 116 rs387906698 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14073 P07477 (PRSS1) R C 122 rs111033568 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14074 P07477 (PRSS1) R H 122 rs267606982 Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14075 P07477 (PRSS1) C F 139 - Disease: Pancreatitis , hereditary (PCTT) [MIM:167800]
14076 P07478 (PRSS2) A V 117 rs11547028 Benign
14077 P07478 (PRSS2) D H 153 rs1804564 Benign
14078 P07492 (GRP) R S 4 rs1062557 Benign
14079 P07498 (CSN3) Y C 75 rs17850702 Benign
14080 P07498 (CSN3) R L 110 rs1048152 Benign
14081 P07498 (CSN3) A T 145 rs3775739 Benign
14082 P07510 (CHRNG) V G 107 rs267606726 Disease: Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
14083 P07510 (CHRNG) A T 149 rs2289080 Benign
14084 P07510 (CHRNG) R C 239 rs121912670 Disease: Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
14085 P07550 (ADRB2) N S 15 rs33973603 Benign
14086 P07550 (ADRB2) G R 16 rs1042713 Benign
14087 P07550 (ADRB2) E Q 27 rs1042714 Benign
14088 P07550 (ADRB2) V M 34 rs990810566 Benign
14089 P07550 (ADRB2) I F 159 - Benign
14090 P07550 (ADRB2) I L 159 - Benign
14091 P07550 (ADRB2) T I 164 rs1800888 Benign
14092 P07550 (ADRB2) S C 220 rs3729943 Benign
14093 P07550 (ADRB2) K R 375 rs771585355 Benign
14094 P07585 (DCN) T M 268 rs3138268 Benign
14095 P07585 (DCN) E Q 273 rs1803344 Benign
14096 P07602 (PSAP) N H 215 rs121918107 Disease: Metachromati c leukodystrop hy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
14097 P07602 (PSAP) N K 215 rs770171865 Disease: Metachromati c leukodystrop hy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
14098 P07602 (PSAP) T I 217 rs121918103 Disease: Metachromati c leukodystrop hy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
14099 P07602 (PSAP) C S 241 rs121918104 Disease: Metachromati c leukodystrop hy due to saposin-B deficiency (MLD-SAPB) [MIM:249900]
14100 P07602 (PSAP) L P 349 rs121918110 Disease: Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539]
14101 P07602 (PSAP) C F 388 - Disease: Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539]
14102 P07686 (HEXB) S L 62 rs820878 Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14103 P07686 (HEXB) K R 121 rs11556045 Benign
14104 P07686 (HEXB) I V 207 rs10805890 Benign
14105 P07686 (HEXB) S R 255 - Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14106 P07686 (HEXB) C Y 309 - Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14107 P07686 (HEXB) P L 417 rs28942073 Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14108 P07686 (HEXB) Y S 456 rs121907982 Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14109 P07686 (HEXB) P S 504 rs121907985 Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14110 P07686 (HEXB) R Q 505 rs121907983 Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14111 P07686 (HEXB) C Y 534 - Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14112 P07686 (HEXB) A T 543 rs121907984 Disease: GM2-ganglios idosis 2 (GM2G2) [MIM:268800]
14113 P07737 (PFN1) C G 71 rs387907264 Disease: Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
14114 P07737 (PFN1) M T 114 rs387907265 Disease: Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
14115 P07737 (PFN1) G V 118 rs387907266 Disease: Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]
14116 P07738 (BPGM) R Q 62 rs751972865 Disease: Erythrocytos is, familial, 8 (ECYT8) [MIM:222800]
14117 P07738 (BPGM) R C 90 rs121964925 Disease: Erythrocytos is, familial, 8 (ECYT8) [MIM:222800]
14118 P07741 (APRT) L P 33 - Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14119 P07741 (APRT) D V 65 rs104894506 Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14120 P07741 (APRT) V M 84 rs200392753 Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14121 P07741 (APRT) L P 110 rs104894508 Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14122 P07741 (APRT) Q R 121 rs8191494 Benign
14123 P07741 (APRT) G D 133 - Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14124 P07741 (APRT) M T 136 rs28999113 Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14125 P07741 (APRT) V F 150 rs281860266 Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14126 P07741 (APRT) C R 153 - Disease: Adenine phosphoribos yltransferas e deficiency (APRTD) [MIM:614723]
14127 P07814 (EPRS1) A P 296 rs35999099 Benign
14128 P07814 (EPRS1) D E 308 rs2230301 Benign
14129 P07814 (EPRS1) Q H 334 rs1063236 Benign
14130 P07814 (EPRS1) P H 893 rs5030751 Benign
14131 P07814 (EPRS1) E G 913 rs2230302 Benign
14132 P07814 (EPRS1) I V 1043 rs5030752 Benign
14133 P07814 (EPRS1) S F 1107 rs12144752 Benign
14134 P07814 (EPRS1) P R 1115 rs1288116010 Disease: Leukodystrop hy, hypomyelinat ing, 15 (HLD15) [MIM:617951]
14135 P07814 (EPRS1) T N 1399 rs34559775 Benign
14136 P07858 (CTSB) L V 26 rs12338 Benign
14137 P07858 (CTSB) S G 53 rs1803250 Benign
14138 P07858 (CTSB) P L 91 rs11548596 Benign
14139 P07858 (CTSB) S N 235 rs17573 Benign
14140 P07864 (LDHC) E Q 285 rs2230150 Benign
14141 P07902 (GALT) Q H 9 rs111033637 Disease: Galactosemia (GALCT) [MIM:230400]
14142 P07902 (GALT) T A 23 rs111033635 Disease: Galactosemia (GALCT) [MIM:230400]
14143 P07902 (GALT) D H 28 rs111033636 Disease: Galactosemia (GALCT) [MIM:230400]
14144 P07902 (GALT) D Y 28 rs111033636 Disease: Galactosemia (GALCT) [MIM:230400]
14145 P07902 (GALT) I N 32 rs111033644 Disease: Galactosemia (GALCT) [MIM:230400]
14146 P07902 (GALT) R H 33 rs111033829 Disease: Galactosemia (GALCT) [MIM:230400]
14147 P07902 (GALT) R P 33 - Disease: Galactosemia (GALCT) [MIM:230400]
14148 P07902 (GALT) Y N 34 rs111033836 Disease: Galactosemia (GALCT) [MIM:230400]
14149 P07902 (GALT) Q P 38 rs111033646 Disease: Galactosemia (GALCT) [MIM:230400]
14150 P07902 (GALT) V L 44 rs111033647 Disease: Galactosemia (GALCT) [MIM:230400]
14151 P07902 (GALT) V M 44 rs111033647 Disease: Galactosemia (GALCT) [MIM:230400]
14152 P07902 (GALT) S L 45 rs111033652 Disease: Galactosemia (GALCT) [MIM:230400]
14153 P07902 (GALT) R L 51 rs111033648 Disease: Galactosemia (GALCT) [MIM:230400]
14154 P07902 (GALT) R Q 51 rs111033648 Disease: Galactosemia (GALCT) [MIM:230400]
14155 P07902 (GALT) G C 55 rs111033654 Disease: Galactosemia (GALCT) [MIM:230400]
14156 P07902 (GALT) L M 62 rs1800461 Benign
14157 P07902 (GALT) R C 67 rs111033658 Disease: Galactosemia (GALCT) [MIM:230400]
14158 P07902 (GALT) L P 74 rs111033663 Disease: Galactosemia (GALCT) [MIM:230400]
14159 P07902 (GALT) A T 81 rs111033665 Disease: Galactosemia (GALCT) [MIM:230400]
14160 P07902 (GALT) G V 83 - Disease: Galactosemia (GALCT) [MIM:230400]
14161 P07902 (GALT) Y H 89 rs111033666 Disease: Galactosemia (GALCT) [MIM:230400]
14162 P07902 (GALT) N S 97 rs111033669 Disease: Galactosemia (GALCT) [MIM:230400]
14163 P07902 (GALT) D N 98 rs111033670 Disease: Galactosemia (GALCT) [MIM:230400]
14164 P07902 (GALT) Q R 103 rs367543252 Disease: Galactosemia (GALCT) [MIM:230400]
14165 P07902 (GALT) S R 112 - Disease: Galactosemia (GALCT) [MIM:230400]
14166 P07902 (GALT) D N 113 rs111033677 Disease: Galactosemia (GALCT) [MIM:230400]
14167 P07902 (GALT) H L 114 rs111033678 Disease: Galactosemia (GALCT) [MIM:230400]
14168 P07902 (GALT) F S 117 rs111033679 Disease: Galactosemia (GALCT) [MIM:230400]
14169 P07902 (GALT) Q H 118 rs111033673 Disease: Galactosemia (GALCT) [MIM:230400]
14170 P07902 (GALT) R G 123 rs111033674 Disease: Galactosemia (GALCT) [MIM:230400]
14171 P07902 (GALT) R Q 123 rs111033675 Disease: Galactosemia (GALCT) [MIM:230400]
14172 P07902 (GALT) V A 125 rs111033680 Disease: Galactosemia (GALCT) [MIM:230400]
14173 P07902 (GALT) K E 127 rs111033682 Disease: Galactosemia (GALCT) [MIM:230400]
14174 P07902 (GALT) M T 129 rs111033683 Disease: Galactosemia (GALCT) [MIM:230400]
14175 P07902 (GALT) C Y 130 rs367543255 Disease: Galactosemia (GALCT) [MIM:230400]
14176 P07902 (GALT) H Q 132 rs367543256 Disease: Galactosemia (GALCT) [MIM:230400]
14177 P07902 (GALT) H Y 132 rs111033688 Disease: Galactosemia (GALCT) [MIM:230400]
14178 P07902 (GALT) S L 135 rs111033690 Disease: Galactosemia (GALCT) [MIM:230400]
14179 P07902 (GALT) S W 135 rs111033690 Disease: Galactosemia (GALCT) [MIM:230400]
14180 P07902 (GALT) T M 138 rs111033686 Disease: Galactosemia (GALCT) [MIM:230400]
14181 P07902 (GALT) L P 139 rs111033687 Disease: Galactosemia (GALCT) [MIM:230400]
14182 P07902 (GALT) M K 142 rs111033695 Disease: Galactosemia (GALCT) [MIM:230400]
14183 P07902 (GALT) M T 142 rs111033695 Disease: Galactosemia (GALCT) [MIM:230400]
14184 P07902 (GALT) M V 142 rs111033692 Disease: Galactosemia (GALCT) [MIM:230400]
14185 P07902 (GALT) S L 143 rs111033697 Disease: Galactosemia (GALCT) [MIM:230400]
14186 P07902 (GALT) R G 148 rs111033693 Disease: Galactosemia (GALCT) [MIM:230400]
14187 P07902 (GALT) R Q 148 rs111033694 Disease: Galactosemia (GALCT) [MIM:230400]
14188 P07902 (GALT) R W 148 rs111033693 Disease: Galactosemia (GALCT) [MIM:230400]
14189 P07902 (GALT) V L 150 rs111033699 Disease: Galactosemia (GALCT) [MIM:230400]
14190 P07902 (GALT) V A 151 rs111033701 Disease: Galactosemia (GALCT) [MIM:230400]
14191 P07902 (GALT) W G 154 rs111033702 Disease: Galactosemia (GALCT) [MIM:230400]
14192 P07902 (GALT) P A 166 rs367543257 Disease: Galactosemia (GALCT) [MIM:230400]
14193 P07902 (GALT) W R 167 rs111033708 Disease: Galactosemia (GALCT) [MIM:230400]
14194 P07902 (GALT) V L 168 rs367543258 Disease: Galactosemia (GALCT) [MIM:230400]
14195 P07902 (GALT) I T 170 rs111033839 Disease: Galactosemia (GALCT) [MIM:230400]
14196 P07902 (GALT) F S 171 rs111033715 Disease: Galactosemia (GALCT) [MIM:230400]
14197 P07902 (GALT) G D 175 rs111033718 Disease: Galactosemia (GALCT) [MIM:230400]
14198 P07902 (GALT) G D 179 rs111033720 Disease: Galactosemia (GALCT) [MIM:230400]
14199 P07902 (GALT) S A 181 rs111033828 Disease: Galactosemia (GALCT) [MIM:230400]
14200 P07902 (GALT) S F 181 rs367543259 Disease: Galactosemia (GALCT) [MIM:230400]
14201 P07902 (GALT) P T 183 rs111033721 Disease: Galactosemia (GALCT) [MIM:230400]
14202 P07902 (GALT) H Q 184 rs111033717 Disease: Galactosemia (GALCT) [MIM:230400]
14203 P07902 (GALT) P H 185 rs111033722 Disease: Galactosemia (GALCT) [MIM:230400]
14204 P07902 (GALT) P L 185 rs111033722 Disease: Galactosemia (GALCT) [MIM:230400]
14205 P07902 (GALT) P S 185 rs111033826 Disease: Galactosemia (GALCT) [MIM:230400]
14206 P07902 (GALT) Q R 188 rs75391579 Disease: Galactosemia (GALCT) [MIM:230400]
14207 P07902 (GALT) S G 192 rs111033830 Disease: Galactosemia (GALCT) [MIM:230400]
14208 P07902 (GALT) S N 192 rs111033734 Disease: Galactosemia (GALCT) [MIM:230400]
14209 P07902 (GALT) F L 194 rs111033726 Disease: Galactosemia (GALCT) [MIM:230400]
14210 P07902 (GALT) L P 195 rs111033728 Disease: Galactosemia (GALCT) [MIM:230400]
14211 P07902 (GALT) I M 198 rs111033729 Disease: Galactosemia (GALCT) [MIM:230400]
14212 P07902 (GALT) I T 198 rs1483461355 Disease: Galactosemia (GALCT) [MIM:230400]
14213 P07902 (GALT) A T 199 rs111033730 Disease: Galactosemia (GALCT) [MIM:230400]
14214 P07902 (GALT) R C 201 rs111033739 Disease: Galactosemia (GALCT) [MIM:230400]
14215 P07902 (GALT) R H 201 rs111033735 Disease: Galactosemia (GALCT) [MIM:230400]
14216 P07902 (GALT) E K 203 rs111033736 Disease: Galactosemia (GALCT) [MIM:230400]
14217 P07902 (GALT) R P 204 rs111033740 Disease: Galactosemia (GALCT) [MIM:230400]
14218 P07902 (GALT) Y C 209 rs111033744 Disease: Galactosemia (GALCT) [MIM:230400]
14219 P07902 (GALT) Y S 209 rs111033744 Disease: Galactosemia (GALCT) [MIM:230400]
14220 P07902 (GALT) Q H 212 - Disease: Galactosemia (GALCT) [MIM:230400]
14221 P07902 (GALT) L P 217 rs111033741 Disease: Galactosemia (GALCT) [MIM:230400]
14222 P07902 (GALT) E K 220 rs111033747 Disease: Galactosemia (GALCT) [MIM:230400]
14223 P07902 (GALT) R S 223 rs111033750 Disease: Galactosemia (GALCT) [MIM:230400]
14224 P07902 (GALT) L P 226 rs111033752 Disease: Galactosemia (GALCT) [MIM:230400]
14225 P07902 (GALT) L P 227 rs111033846 Disease: Galactosemia (GALCT) [MIM:230400]
14226 P07902 (GALT) K N 229 rs111033753 Disease: Galactosemia (GALCT) [MIM:230400]
14227 P07902 (GALT) R C 231 rs111033749 Disease: Galactosemia (GALCT) [MIM:230400]
14228 P07902 (GALT) R H 231 rs111033754 Disease: Galactosemia (GALCT) [MIM:230400]
14229 P07902 (GALT) P S 244 - Disease: Galactosemia (GALCT) [MIM:230400]
14230 P07902 (GALT) W R 249 rs111033757 Disease: Galactosemia (GALCT) [MIM:230400]
14231 P07902 (GALT) Y C 251 rs111033755 Disease: Galactosemia (GALCT) [MIM:230400]
14232 P07902 (GALT) Y S 251 rs111033755 Disease: Galactosemia (GALCT) [MIM:230400]
14233 P07902 (GALT) Q H 252 rs111033769 Disease: Galactosemia (GALCT) [MIM:230400]
14234 P07902 (GALT) R C 258 rs368166217 Disease: Galactosemia (GALCT) [MIM:230400]
14235 P07902 (GALT) R Q 259 rs886042070 Disease: Galactosemia (GALCT) [MIM:230400]
14236 P07902 (GALT) R W 259 rs786204763 Disease: Galactosemia (GALCT) [MIM:230400]
14237 P07902 (GALT) R P 262 rs111033763 Disease: Galactosemia (GALCT) [MIM:230400]
14238 P07902 (GALT) P A 265 rs111033764 Disease: Galactosemia (GALCT) [MIM:230400]
14239 P07902 (GALT) L R 267 - Disease: Galactosemia (GALCT) [MIM:230400]
14240 P07902 (GALT) L V 267 - Disease: Galactosemia (GALCT) [MIM:230400]
14241 P07902 (GALT) E D 271 rs1262475195 Disease: Galactosemia (GALCT) [MIM:230400]
14242 P07902 (GALT) R G 272 rs111033766 Disease: Galactosemia (GALCT) [MIM:230400]
14243 P07902 (GALT) I N 278 rs111033778 Disease: Galactosemia (GALCT) [MIM:230400]
14244 P07902 (GALT) L V 282 rs111033772 Disease: Galactosemia (GALCT) [MIM:230400]
14245 P07902 (GALT) K N 285 rs111033773 Disease: Galactosemia (GALCT) [MIM:230400]
14246 P07902 (GALT) K R 285 rs367543263 Disease: Galactosemia (GALCT) [MIM:230400]
14247 P07902 (GALT) L F 289 rs111033774 Disease: Galactosemia (GALCT) [MIM:230400]
14248 P07902 (GALT) L R 289 rs111033775 Disease: Galactosemia (GALCT) [MIM:230400]
14249 P07902 (GALT) E K 291 rs111033780 Disease: Galactosemia (GALCT) [MIM:230400]
14250 P07902 (GALT) E V 291 rs111033841 Disease: Galactosemia (GALCT) [MIM:230400]
14251 P07902 (GALT) F Y 294 rs111033781 Disease: Galactosemia (GALCT) [MIM:230400]
14252 P07902 (GALT) E K 308 rs111033784 Disease: Galactosemia (GALCT) [MIM:230400]
14253 P07902 (GALT) N D 314 rs2070074 Disease: Galactosemia (GALCT) [MIM:230400]
14254 P07902 (GALT) Q H 317 rs111033787 Disease: Galactosemia (GALCT) [MIM:230400]
14255 P07902 (GALT) Q R 317 rs111033786 Disease: Galactosemia (GALCT) [MIM:230400]
14256 P07902 (GALT) H Q 319 rs111033792 Disease: Galactosemia (GALCT) [MIM:230400]
14257 P07902 (GALT) A T 320 rs111033795 Disease: Galactosemia (GALCT) [MIM:230400]
14258 P07902 (GALT) Y D 323 rs111033796 Disease: Galactosemia (GALCT) [MIM:230400]
14259 P07902 (GALT) Y H 323 rs111033796 Disease: Galactosemia (GALCT) [MIM:230400]
14260 P07902 (GALT) P S 324 rs111033798 Disease: Galactosemia (GALCT) [MIM:230400]
14261 P07902 (GALT) P L 325 rs111033794 Disease: Galactosemia (GALCT) [MIM:230400]
14262 P07902 (GALT) L P 327 rs111033832 Disease: Galactosemia (GALCT) [MIM:230400]
14263 P07902 (GALT) R H 328 rs111033802 Disease: Galactosemia (GALCT) [MIM:230400]
14264 P07902 (GALT) S F 329 rs111033803 Disease: Galactosemia (GALCT) [MIM:230400]
14265 P07902 (GALT) A V 330 rs111033804 Disease: Galactosemia (GALCT) [MIM:230400]
14266 P07902 (GALT) R G 333 rs111033800 Disease: Galactosemia (GALCT) [MIM:230400]
14267 P07902 (GALT) R L 333 rs111033808 Disease: Galactosemia (GALCT) [MIM:230400]
14268 P07902 (GALT) R Q 333 rs111033808 Disease: Galactosemia (GALCT) [MIM:230400]
14269 P07902 (GALT) R W 333 rs111033800 Disease: Galactosemia (GALCT) [MIM:230400]
14270 P07902 (GALT) K R 334 rs111033809 Disease: Galactosemia (GALCT) [MIM:230400]
14271 P07902 (GALT) M L 336 rs111033810 Disease: Galactosemia (GALCT) [MIM:230400]
14272 P07902 (GALT) L I 342 rs111033812 Disease: Galactosemia (GALCT) [MIM:230400]
14273 P07902 (GALT) Q K 344 rs111033814 Disease: Galactosemia (GALCT) [MIM:230400]
14274 P07902 (GALT) A D 345 rs111033815 Disease: Galactosemia (GALCT) [MIM:230400]
14275 P07902 (GALT) T A 350 rs111033817 Disease: Galactosemia (GALCT) [MIM:230400]
14276 P07911 (UMOD) C W 52 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14277 P07911 (UMOD) D A 59 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14278 P07911 (UMOD) C Y 77 rs121917768 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14279 P07911 (UMOD) G C 103 rs28934584 Disease: Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
14280 P07911 (UMOD) V E 109 rs780462125 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14281 P07911 (UMOD) C R 112 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14282 P07911 (UMOD) C G 120 rs1555487621 Disease: Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
14283 P07911 (UMOD) C R 126 rs121917769 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14284 P07911 (UMOD) N S 128 rs121917770 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14285 P07911 (UMOD) C S 135 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14286 P07911 (UMOD) C W 148 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14287 P07911 (UMOD) C Y 148 rs28934582 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14288 P07911 (UMOD) C S 150 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14289 P07911 (UMOD) C Y 170 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14290 P07911 (UMOD) R S 185 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14291 P07911 (UMOD) C F 195 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14292 P07911 (UMOD) W S 202 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14293 P07911 (UMOD) R G 204 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14294 P07911 (UMOD) C G 217 rs28934583 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14295 P07911 (UMOD) C R 217 rs28934583 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14296 P07911 (UMOD) R P 222 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14297 P07911 (UMOD) C Y 223 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14298 P07911 (UMOD) T K 225 - Disease: Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
14299 P07911 (UMOD) T M 225 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14300 P07911 (UMOD) W R 230 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14301 P07911 (UMOD) P L 236 rs1447458978 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14302 P07911 (UMOD) P Q 236 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14303 P07911 (UMOD) P R 236 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14304 P07911 (UMOD) C W 248 rs886043751 Disease: Medullary cystic kidney disease 2 (MCKD2) [MIM:603860]
14305 P07911 (UMOD) C Y 255 rs121917771 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14306 P07911 (UMOD) C R 282 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14307 P07911 (UMOD) C G 300 rs121917772 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14308 P07911 (UMOD) C R 315 rs121917773 Disease: Glomerulocys tic kidney disease with hyperuricemi a and isosthenuria (GCKDHI) [MIM:609886]
14309 P07911 (UMOD) Q P 316 rs1555487318 Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14310 P07911 (UMOD) C Y 317 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14311 P07911 (UMOD) C G 347 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14312 P07911 (UMOD) V L 458 rs55772253 Benign
14313 P07911 (UMOD) A E 461 - Disease: Familial juvenile hyperuricemi c nephropathy 1 (HNFJ1) [MIM:162000]
14314 P07919 (UQCRH) E Q 51 rs34813470 Benign
14315 P07942 (LAMB1) P S 379 rs28750165 Benign
14316 P07942 (LAMB1) V A 670 rs20555 Benign
14317 P07942 (LAMB1) G S 860 rs35710474 Benign
14318 P07942 (LAMB1) Q R 1022 rs20556 Benign
14319 P07947 (YES1) I V 198 rs34580680 Benign
14320 P07947 (YES1) K R 282 rs35126906 Benign
14321 P07949 (RET) P L 20 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14322 P07949 (RET) S L 32 rs76764689 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14323 P07949 (RET) L P 40 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14324 P07949 (RET) P L 64 rs77596424 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14325 P07949 (RET) R H 67 rs192489011 Disease: Congenital central hypoventilat ion syndrome (CCHS) [MIM:209880]
14326 P07949 (RET) R C 77 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14327 P07949 (RET) R C 114 rs747483905 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14328 P07949 (RET) R H 114 rs76397662 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14329 P07949 (RET) C S 142 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14330 P07949 (RET) V G 145 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14331 P07949 (RET) P L 155 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14332 P07949 (RET) F S 174 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14333 P07949 (RET) R P 175 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14334 P07949 (RET) R P 180 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14335 P07949 (RET) C Y 197 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14336 P07949 (RET) R H 231 rs79661516 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14337 P07949 (RET) E K 251 rs562449603 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14338 P07949 (RET) T N 278 rs35118262 Benign
14339 P07949 (RET) T A 278 rs541929171 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14340 P07949 (RET) T P 278 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14341 P07949 (RET) R Q 287 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14342 P07949 (RET) D N 300 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14343 P07949 (RET) R Q 313 rs77702891 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14344 P07949 (RET) S I 316 rs1060499894 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14345 P07949 (RET) R Q 330 rs80236571 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14346 P07949 (RET) S L 339 rs774829203 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14347 P07949 (RET) D Y 353 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14348 P07949 (RET) R Q 360 rs762472027 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14349 P07949 (RET) R W 360 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14350 P07949 (RET) F L 393 rs78098482 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14351 P07949 (RET) N K 394 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14352 P07949 (RET) V M 397 rs183729115 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14353 P07949 (RET) P L 399 rs1554818362 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14354 P07949 (RET) V M 412 rs746970700 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14355 P07949 (RET) G R 423 rs767601598 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14356 P07949 (RET) A E 432 rs552057730 Disease: Congenital central hypoventilat ion syndrome (CCHS) [MIM:209880]
14357 P07949 (RET) R Q 475 rs138624658 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14358 P07949 (RET) E K 480 rs537874538 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14359 P07949 (RET) D N 489 rs9282834 Benign
14360 P07949 (RET) E Q 595 rs1483605155 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14361 P07949 (RET) R Q 600 rs377767393 Benign
14362 P07949 (RET) C G 609 rs77558292 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14363 P07949 (RET) C R 609 rs77558292 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14364 P07949 (RET) C W 609 rs377767396 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14365 P07949 (RET) C Y 609 rs77939446 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14366 P07949 (RET) C G 611 rs377767391 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14367 P07949 (RET) C R 611 rs377767391 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14368 P07949 (RET) C S 611 rs377767391 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14369 P07949 (RET) C W 611 rs80069458 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14370 P07949 (RET) C Y 611 rs377767397 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14371 P07949 (RET) C F 618 rs79781594 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14372 P07949 (RET) C G 618 rs76262710 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14373 P07949 (RET) C R 618 rs76262710 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14374 P07949 (RET) C S 618 rs79781594 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14375 P07949 (RET) C Y 618 rs79781594 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14376 P07949 (RET) C F 620 rs77503355 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14377 P07949 (RET) C G 620 rs77316810 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14378 P07949 (RET) C R 620 rs77316810 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14379 P07949 (RET) C S 620 rs77503355 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14380 P07949 (RET) C W 620 rs79890926 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14381 P07949 (RET) C Y 620 rs77503355 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14382 P07949 (RET) Q K 626 rs1255575160 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14383 P07949 (RET) C F 630 rs377767405 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14384 P07949 (RET) C S 630 rs377767405 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14385 P07949 (RET) C Y 630 rs377767405 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14386 P07949 (RET) C F 634 rs75996173 Disease: Pheochromocy toma (PCC) [MIM:171300]
14387 P07949 (RET) C G 634 rs75076352 Disease: Pheochromocy toma (PCC) [MIM:171300]
14388 P07949 (RET) C R 634 rs75076352 Disease: Pheochromocy toma (PCC) [MIM:171300]
14389 P07949 (RET) C S 634 rs75076352 Disease: Pheochromocy toma (PCC) [MIM:171300]
14390 P07949 (RET) C W 634 rs77709286 Disease: Pheochromocy toma (PCC) [MIM:171300]
14391 P07949 (RET) C Y 634 rs75996173 Disease: Pheochromocy toma (PCC) [MIM:171300]
14392 P07949 (RET) A G 639 - Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14393 P07949 (RET) A G 640 rs78935588 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14394 P07949 (RET) A G 641 - Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14395 P07949 (RET) P L 679 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14396 P07949 (RET) S P 690 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14397 P07949 (RET) G S 691 rs1799939 Benign
14398 P07949 (RET) R Q 694 rs141185224 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14399 P07949 (RET) R T 749 rs34288963 Benign
14400 P07949 (RET) E Q 762 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14401 P07949 (RET) S P 765 rs75075748 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14402 P07949 (RET) S R 767 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14403 P07949 (RET) E D 768 rs78014899 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14404 P07949 (RET) N S 783 rs587778656 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14405 P07949 (RET) L F 790 rs75030001 Disease: Multiple neoplasia 2A (MEN2A) [MIM:171400]
14406 P07949 (RET) Y F 791 rs77724903 Disease: Pheochromocy toma (PCC) [MIM:171300]
14407 P07949 (RET) V L 804 rs79658334 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14408 P07949 (RET) V M 804 rs79658334 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14409 P07949 (RET) R Q 813 rs1318733775 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14410 P07949 (RET) Y S 826 rs34617196 Benign
14411 P07949 (RET) G R 830 rs200127630 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14412 P07949 (RET) R L 844 rs55947360 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14413 P07949 (RET) R Q 873 rs1451004715 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14414 P07949 (RET) A F 883 rs377767429 Disease: Multiple neoplasia 2B (MEN2B) [MIM:162300]
14415 P07949 (RET) S A 891 rs75234356 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14416 P07949 (RET) F L 893 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14417 P07949 (RET) R Q 897 rs76087194 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14418 P07949 (RET) K E 907 rs377767430 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14419 P07949 (RET) K T 907 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14420 P07949 (RET) M T 918 rs74799832 Disease: Multiple neoplasia 2B (MEN2B) [MIM:162300]
14421 P07949 (RET) E K 921 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14422 P07949 (RET) S Y 922 rs377767432 Benign
14423 P07949 (RET) S F 922 rs377767432 Disease: Medullary thyroid carcinoma (MTC) [MIM:155240]
14424 P07949 (RET) T M 946 - Disease: Multiple neoplasia 2B (MEN2B) [MIM:162300]
14425 P07949 (RET) F L 961 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14426 P07949 (RET) R G 972 rs76534745 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14427 P07949 (RET) P L 973 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14428 P07949 (RET) M T 980 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14429 P07949 (RET) R C 982 rs17158558 Benign
14430 P07949 (RET) P Q 1039 rs79853121 Benign
14431 P07949 (RET) P L 1039 rs79853121 Disease: Congenital central hypoventilat ion syndrome (CCHS) [MIM:209880]
14432 P07949 (RET) L V 1052 - Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14433 P07949 (RET) L P 1061 rs536486113 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14434 P07949 (RET) Y C 1062 rs587778659 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14435 P07949 (RET) M T 1064 rs149513065 Disease: Hirschsprung disease 1 (HSCR1) [MIM:142623]
14436 P07951 (TPM2) D V 2 rs199476145 Disease: -
14437 P07951 (TPM2) A G 3 - Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14438 P07951 (TPM2) D V 14 - Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14439 P07951 (TPM2) E K 41 rs137853306 Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14440 P07951 (TPM2) R G 91 rs104894127 Disease: Arthrogrypos is, distal, 1A (DA1A) [MIM:108120]
14441 P07951 (TPM2) Q H 93 rs727504180 Disease: -
14442 P07951 (TPM2) Q R 93 rs199476151 Disease: Arthrogrypos is, distal, 1A (DA1A) [MIM:108120]
14443 P07951 (TPM2) E A 117 - Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14444 P07951 (TPM2) E K 117 rs104894129 Disease: Arthrogrypos is, distal, 1A (DA1A) [MIM:108120]
14445 P07951 (TPM2) K E 128 - Disease: -
14446 P07951 (TPM2) R P 133 rs199476152 Disease: -
14447 P07951 (TPM2) R W 133 rs137853305 Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14448 P07951 (TPM2) L P 143 - Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14449 P07951 (TPM2) Q P 147 rs104894128 Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14450 P07951 (TPM2) L P 148 - Disease: Nemaline myopathy 4 (NEM4) [MIM:609285]
14451 P07951 (TPM2) A T 155 - Disease: -
14452 P07951 (TPM2) N K 202 rs137853307 Disease: Cap myopathy 2 (CAPM2) [MIM:609285]
14453 P07951 (TPM2) Y C 261 - Disease: Arthrogrypos is, distal, 1A (DA1A) [MIM:108120]
14454 P07951 (TPM2) E K 273 rs3180843 Benign
14455 P07954 (FH) N T 107 rs121913121 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14456 P07954 (FH) A P 117 rs886039363 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14457 P07954 (FH) H R 180 rs863224015 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14458 P07954 (FH) Q R 185 rs779707997 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14459 P07954 (FH) K R 230 rs752232718 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14460 P07954 (FH) R H 233 rs121913123 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14461 P07954 (FH) G V 282 rs935002190 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14462 P07954 (FH) A T 308 rs121913118 Disease: Fumarase deficiency (FMRD) [MIM:606812]
14463 P07954 (FH) F C 312 rs1553341046 Disease: Fumarase deficiency (FMRD) [MIM:606812]
14464 P07954 (FH) M R 328 - Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14465 P07954 (FH) E Q 362 rs121913119 Disease: Hereditary leiomyomatos is and renal cell cancer (HLRCC) [MIM:150800]
14466 P07954 (FH) D V 425 - Disease: Fumarase deficiency (FMRD) [MIM:606812]
14467 P07988 (SFTPB) T I 131 rs1130866 Benign
14468 P07988 (SFTPB) L F 176 rs3024801 Benign
14469 P07988 (SFTPB) R C 236 rs137853202 Disease: Pulmonary surfactant metabolism dysfunction 1 (SMDP1) [MIM:265120]
14470 P07988 (SFTPB) R H 272 rs3024809 Benign
14471 P07992 (ERCC1) F L 231 rs121913028 Disease: Cerebro- oculo-facio- skeletal syndrome 4 (COFS4) [MIM:610758]
14472 P07992 (ERCC1) A T 266 rs3212977 Benign
14473 P07996 (THBS1) S A 24 rs41515347 Benign
14474 P07996 (THBS1) T A 523 rs2292305 Benign
14475 P07996 (THBS1) N S 700 rs2228262 Benign
14476 P08034 (GJB1) W R 3 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14477 P08034 (GJB1) W S 3 rs1555936989 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14478 P08034 (GJB1) Y C 7 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14479 P08034 (GJB1) T I 8 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14480 P08034 (GJB1) T P 8 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14481 P08034 (GJB1) L W 9 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14482 P08034 (GJB1) S G 11 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14483 P08034 (GJB1) G S 12 rs1555936999 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14484 P08034 (GJB1) V L 13 rs104894820 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14485 P08034 (GJB1) V M 13 rs104894820 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14486 P08034 (GJB1) N K 14 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14487 P08034 (GJB1) R Q 15 rs863224974 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14488 P08034 (GJB1) R W 15 rs116840815 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14489 P08034 (GJB1) H P 16 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14490 P08034 (GJB1) I S 20 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14491 P08034 (GJB1) G D 21 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14492 P08034 (GJB1) R G 22 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14493 P08034 (GJB1) R P 22 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14494 P08034 (GJB1) R Q 22 rs1060501002 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14495 P08034 (GJB1) V A 23 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14496 P08034 (GJB1) W C 24 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14497 P08034 (GJB1) L F 25 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14498 P08034 (GJB1) L P 25 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14499 P08034 (GJB1) S L 26 rs587777876 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14500 P08034 (GJB1) S W 26 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14501 P08034 (GJB1) I N 28 rs768834663 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14502 P08034 (GJB1) I T 28 rs768834663 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14503 P08034 (GJB1) F L 29 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14504 P08034 (GJB1) I N 30 rs104894817 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14505 P08034 (GJB1) I T 30 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14506 P08034 (GJB1) M I 34 rs1060501000 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14507 P08034 (GJB1) M K 34 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14508 P08034 (GJB1) M T 34 rs1060500998 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14509 P08034 (GJB1) M V 34 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14510 P08034 (GJB1) V M 35 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14511 P08034 (GJB1) V M 37 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14512 P08034 (GJB1) V M 38 rs879254012 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14513 P08034 (GJB1) A P 39 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14514 P08034 (GJB1) A V 39 rs786204095 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14515 P08034 (GJB1) A T 40 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14516 P08034 (GJB1) A V 40 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14517 P08034 (GJB1) E K 41 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14518 P08034 (GJB1) V M 43 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14519 P08034 (GJB1) W L 44 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14520 P08034 (GJB1) S P 49 rs116840817 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14521 P08034 (GJB1) S Y 49 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14522 P08034 (GJB1) S P 50 rs913934445 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14523 P08034 (GJB1) C S 53 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14524 P08034 (GJB1) T A 55 rs863224613 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14525 P08034 (GJB1) T I 55 rs104894824 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14526 P08034 (GJB1) T R 55 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14527 P08034 (GJB1) L F 56 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14528 P08034 (GJB1) Q H 57 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14529 P08034 (GJB1) P R 58 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14530 P08034 (GJB1) G C 59 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14531 P08034 (GJB1) G R 59 rs1555937077 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14532 P08034 (GJB1) C F 60 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14533 P08034 (GJB1) V I 63 rs116840818 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14534 P08034 (GJB1) C F 64 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14535 P08034 (GJB1) C S 64 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14536 P08034 (GJB1) Y C 65 rs104894819 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14537 P08034 (GJB1) Y H 65 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14538 P08034 (GJB1) F L 69 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14539 P08034 (GJB1) P A 70 rs878853697 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14540 P08034 (GJB1) R P 75 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14541 P08034 (GJB1) R Q 75 rs863224972 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14542 P08034 (GJB1) R W 75 rs116840819 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14543 P08034 (GJB1) W S 77 rs199570177 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14544 P08034 (GJB1) Q R 80 rs879254097 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14545 P08034 (GJB1) L F 81 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14546 P08034 (GJB1) L P 83 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14547 P08034 (GJB1) V I 84 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14548 P08034 (GJB1) S C 85 rs104894823 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14549 P08034 (GJB1) S F 85 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14550 P08034 (GJB1) T A 86 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14551 P08034 (GJB1) T N 86 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14552 P08034 (GJB1) T S 86 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14553 P08034 (GJB1) P A 87 rs587777877 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14554 P08034 (GJB1) P L 87 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14555 P08034 (GJB1) P S 87 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14556 P08034 (GJB1) L P 89 rs1555937122 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14557 P08034 (GJB1) L H 90 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14558 P08034 (GJB1) L V 90 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14559 P08034 (GJB1) V M 91 rs756928158 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14560 P08034 (GJB1) M V 93 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14561 P08034 (GJB1) H D 94 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14562 P08034 (GJB1) H Q 94 rs756000896 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14563 P08034 (GJB1) H Y 94 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14564 P08034 (GJB1) V M 95 rs104894821 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14565 P08034 (GJB1) H Y 100 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14566 P08034 (GJB1) E G 102 rs779696968 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14567 P08034 (GJB1) K E 103 rs1131691322 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14568 P08034 (GJB1) K T 104 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14569 P08034 (GJB1) R W 107 rs863224973 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14570 P08034 (GJB1) L P 108 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14571 P08034 (GJB1) V E 120 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14572 P08034 (GJB1) K E 124 rs1555937161 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14573 P08034 (GJB1) K N 124 rs876661119 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14574 P08034 (GJB1) V D 125 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14575 P08034 (GJB1) H Y 126 rs879253995 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14576 P08034 (GJB1) I M 127 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14577 P08034 (GJB1) I S 127 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14578 P08034 (GJB1) S P 128 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14579 P08034 (GJB1) T I 130 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14580 P08034 (GJB1) L P 131 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14581 P08034 (GJB1) W C 133 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14582 P08034 (GJB1) W R 133 rs104894813 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14583 P08034 (GJB1) Y C 135 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14584 P08034 (GJB1) V A 136 rs104894826 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
14585 P08034 (GJB1) S N 138 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14586 P08034 (GJB1) V M 139 rs104894812 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14587 P08034 (GJB1) F L 141 rs1555937180 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14588 P08034 (GJB1) R E 142 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14589 P08034 (GJB1) R Q 142 rs786204123 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14590 P08034 (GJB1) R W 142 rs104894810 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14591 P08034 (GJB1) E K 146 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14592 P08034 (GJB1) A D 147 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14593 P08034 (GJB1) F I 149 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14594 P08034 (GJB1) Y S 151 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14595 P08034 (GJB1) F S 153 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14596 P08034 (GJB1) L F 156 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14597 P08034 (GJB1) L R 156 rs104894818 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14598 P08034 (GJB1) Y C 157 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14599 P08034 (GJB1) P A 158 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14600 P08034 (GJB1) P R 158 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14601 P08034 (GJB1) P S 158 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14602 P08034 (GJB1) G D 159 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14603 P08034 (GJB1) G S 159 rs1555937194 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14604 P08034 (GJB1) Y H 160 rs1555937197 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14605 P08034 (GJB1) A P 161 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14606 P08034 (GJB1) R Q 164 rs1241595912 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14607 P08034 (GJB1) R W 164 rs139643362 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14608 P08034 (GJB1) C R 168 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14609 P08034 (GJB1) C Y 168 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14610 P08034 (GJB1) P A 172 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14611 P08034 (GJB1) P L 172 rs1555937218 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14612 P08034 (GJB1) P R 172 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14613 P08034 (GJB1) P S 172 rs104894811 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14614 P08034 (GJB1) C R 173 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14615 P08034 (GJB1) N D 175 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14616 P08034 (GJB1) V A 177 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14617 P08034 (GJB1) V E 177 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14618 P08034 (GJB1) D Y 178 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14619 P08034 (GJB1) C R 179 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14620 P08034 (GJB1) F L 180 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14621 P08034 (GJB1) F S 180 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14622 P08034 (GJB1) V A 181 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14623 P08034 (GJB1) V M 181 rs879253909 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14624 P08034 (GJB1) S T 182 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14625 P08034 (GJB1) R C 183 rs863224471 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14626 P08034 (GJB1) R H 183 rs1555937233 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14627 P08034 (GJB1) R S 183 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14628 P08034 (GJB1) P L 184 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14629 P08034 (GJB1) P R 184 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14630 P08034 (GJB1) E K 186 rs116840821 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14631 P08034 (GJB1) K E 187 rs1555937244 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14632 P08034 (GJB1) V G 189 rs1064794244 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14633 P08034 (GJB1) V I 189 rs770116247 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14634 P08034 (GJB1) T A 191 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14635 P08034 (GJB1) V F 192 rs771579861 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14636 P08034 (GJB1) F C 193 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14637 P08034 (GJB1) F L 193 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14638 P08034 (GJB1) M V 194 rs587777878 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14639 P08034 (GJB1) S F 198 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14640 P08034 (GJB1) G R 199 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14641 P08034 (GJB1) C R 201 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14642 P08034 (GJB1) C Y 201 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14643 P08034 (GJB1) I N 203 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14644 P08034 (GJB1) L F 204 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14645 P08034 (GJB1) L V 204 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14646 P08034 (GJB1) N I 205 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14647 P08034 (GJB1) N S 205 rs104894822 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14648 P08034 (GJB1) E G 208 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14649 P08034 (GJB1) E K 208 rs1555937270 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14650 P08034 (GJB1) Y H 211 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14651 P08034 (GJB1) I V 213 rs753503984 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14652 P08034 (GJB1) R Q 215 rs864622215 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14653 P08034 (GJB1) R W 215 rs879254099 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14654 P08034 (GJB1) R C 219 rs144381053 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14655 P08034 (GJB1) R H 219 rs199834862 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14656 P08034 (GJB1) R G 220 rs104894814 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14657 P08034 (GJB1) R C 230 rs587781246 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14658 P08034 (GJB1) R L 230 rs780335726 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14659 P08034 (GJB1) F C 235 rs104894825 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14660 P08034 (GJB1) R H 238 rs776206757 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14661 P08034 (GJB1) L I 239 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14662 P08034 (GJB1) R C 264 rs587777879 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14663 P08034 (GJB1) C G 280 - Disease: Charcot- Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]
14664 P08047 (SP1) T A 737 rs3741665 Benign
14665 P08069 (IGF1R) R Q 138 rs121912426 Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14666 P08069 (IGF1R) K N 145 rs121912427 Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14667 P08069 (IGF1R) N Y 359 - Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14668 P08069 (IGF1R) V M 388 rs45445894 Benign
14669 P08069 (IGF1R) R H 437 rs34516635 Benign
14670 P08069 (IGF1R) R Q 511 rs33958176 Benign
14671 P08069 (IGF1R) R H 595 rs56248469 Benign
14672 P08069 (IGF1R) R H 605 rs45553041 Benign
14673 P08069 (IGF1R) R Q 739 rs121912429 Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14674 P08069 (IGF1R) H R 808 rs34061581 Benign
14675 P08069 (IGF1R) A T 828 rs35224135 Benign
14676 P08069 (IGF1R) N S 857 rs45611935 Benign
14677 P08069 (IGF1R) Y C 865 - Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14678 P08069 (IGF1R) R S 1256 - Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14679 P08069 (IGF1R) R C 1337 rs141802822 Disease: Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
14680 P08069 (IGF1R) A T 1338 rs34102392 Benign
14681 P08100 (RHO) T K 4 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14682 P08100 (RHO) N S 15 rs104893786 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14683 P08100 (RHO) T M 17 rs104893769 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14684 P08100 (RHO) P H 23 rs104893768 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14685 P08100 (RHO) P L 23 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14686 P08100 (RHO) Q H 28 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14687 P08100 (RHO) L R 40 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14688 P08100 (RHO) M T 44 rs774336493 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14689 P08100 (RHO) F L 45 rs104893770 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14690 P08100 (RHO) L R 46 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14691 P08100 (RHO) G A 51 rs149079952 Benign
14692 P08100 (RHO) G R 51 rs104893792 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14693 P08100 (RHO) G V 51 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14694 P08100 (RHO) P R 53 rs28933395 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14695 P08100 (RHO) T R 58 rs28933394 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14696 P08100 (RHO) V D 87 rs104893771 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14697 P08100 (RHO) G D 89 rs104893772 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14698 P08100 (RHO) G D 90 rs104893790 Disease: Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]
14699 P08100 (RHO) T I 94 rs104893796 Disease: Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]
14700 P08100 (RHO) G R 106 rs104893773 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14701 P08100 (RHO) G W 106 rs104893773 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14702 P08100 (RHO) G R 109 rs1415160298 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14703 P08100 (RHO) C F 110 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14704 P08100 (RHO) C Y 110 rs104893787 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14705 P08100 (RHO) G D 114 rs104893788 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14706 P08100 (RHO) L R 125 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14707 P08100 (RHO) S F 127 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14708 P08100 (RHO) L P 131 rs1553781140 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14709 P08100 (RHO) R G 135 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14710 P08100 (RHO) R L 135 rs104893774 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14711 P08100 (RHO) R W 135 rs104893775 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14712 P08100 (RHO) C S 140 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14713 P08100 (RHO) E K 150 rs104893791 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14714 P08100 (RHO) A E 164 rs104893793 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14715 P08100 (RHO) A V 164 rs104893793 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14716 P08100 (RHO) C R 167 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14717 P08100 (RHO) P L 171 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14718 P08100 (RHO) P Q 171 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14719 P08100 (RHO) P S 171 rs104893794 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14720 P08100 (RHO) Y C 178 rs104893776 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14721 P08100 (RHO) Y N 178 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14722 P08100 (RHO) P S 180 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14723 P08100 (RHO) E K 181 rs775557680 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14724 P08100 (RHO) G S 182 rs104893780 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14725 P08100 (RHO) S P 186 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14726 P08100 (RHO) G E 188 rs1424131846 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14727 P08100 (RHO) G R 188 rs527236100 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14728 P08100 (RHO) D G 190 rs104893777 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14729 P08100 (RHO) D N 190 rs104893779 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14730 P08100 (RHO) D Y 190 rs104893779 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14731 P08100 (RHO) M R 207 rs104893782 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14732 P08100 (RHO) H P 211 rs28933993 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14733 P08100 (RHO) H R 211 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14734 P08100 (RHO) I N 214 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14735 P08100 (RHO) M K 216 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14736 P08100 (RHO) F C 220 rs766161322 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14737 P08100 (RHO) C R 222 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14738 P08100 (RHO) P L 267 rs104893781 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14739 P08100 (RHO) P R 267 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14740 P08100 (RHO) A E 292 rs104893789 Disease: Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]
14741 P08100 (RHO) K E 296 rs29001653 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14742 P08100 (RHO) S R 297 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14743 P08100 (RHO) T M 342 rs183318466 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14744 P08100 (RHO) V L 345 rs104893795 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14745 P08100 (RHO) V M 345 rs104893795 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14746 P08100 (RHO) P A 347 - Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14747 P08100 (RHO) P L 347 rs29001566 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14748 P08100 (RHO) P Q 347 rs29001566 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14749 P08100 (RHO) P R 347 rs29001566 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14750 P08100 (RHO) P S 347 rs29001637 Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]
14751 P08118 (MSMB) L S 17 rs1804776 Benign
14752 P08118 (MSMB) I M 25 rs1804778 Benign
14753 P08118 (MSMB) W R 52 rs1804780 Benign
14754 P08118 (MSMB) Q R 53 rs1804468 Benign
14755 P08118 (MSMB) D A 80 rs1802774 Benign
14756 P08118 (MSMB) I T 87 rs1802771 Benign
14757 P08118 (MSMB) E G 91 rs1804469 Benign
14758 P08118 (MSMB) D G 92 rs1804461 Benign
14759 P08118 (MSMB) V L 98 rs1804464 Benign
14760 P08123 (COL1A2) T P 59 rs1800221 Benign
14761 P08123 (COL1A2) G S 193 rs72656370 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14762 P08123 (COL1A2) G R 202 rs72656376 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14763 P08123 (COL1A2) G D 211 rs72656378 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14764 P08123 (COL1A2) R C 234 rs1206388800 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14765 P08123 (COL1A2) G R 247 - Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14766 P08123 (COL1A2) I N 249 rs1800228 Benign
14767 P08123 (COL1A2) G D 253 rs72656385 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14768 P08123 (COL1A2) G V 256 rs67525025 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14769 P08123 (COL1A2) V I 270 rs368468 Benign
14770 P08123 (COL1A2) A T 276 rs1800231 Benign
14771 P08123 (COL1A2) G R 283 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14772 P08123 (COL1A2) G R 319 rs72656393 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14773 P08123 (COL1A2) G E 325 rs72656395 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14774 P08123 (COL1A2) G S 328 rs66612022 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14775 P08123 (COL1A2) G D 331 rs67729041 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14776 P08123 (COL1A2) G C 334 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14777 P08123 (COL1A2) G C 337 rs67865220 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14778 P08123 (COL1A2) G S 337 rs67865220 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14779 P08123 (COL1A2) L V 344 rs16868573 Benign
14780 P08123 (COL1A2) G C 349 rs66773001 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14781 P08123 (COL1A2) G S 358 rs66619856 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14782 P08123 (COL1A2) G E 397 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14783 P08123 (COL1A2) G V 409 rs72658109 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14784 P08123 (COL1A2) G E 433 rs72658114 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14785 P08123 (COL1A2) G C 454 rs72658117 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14786 P08123 (COL1A2) G L 457 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14787 P08123 (COL1A2) G S 460 rs72658118 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14788 P08123 (COL1A2) A V 483 rs414408 Benign
14789 P08123 (COL1A2) G D 511 rs66999265 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14790 P08123 (COL1A2) G R 517 rs72658126 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14791 P08123 (COL1A2) G E 526 rs72658130 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14792 P08123 (COL1A2) N S 528 rs41317144 Benign
14793 P08123 (COL1A2) G R 547 rs72658136 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14794 P08123 (COL1A2) P A 549 rs42524 Benign
14795 P08123 (COL1A2) G C 562 rs72658138 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14796 P08123 (COL1A2) G V 562 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14797 P08123 (COL1A2) A T 564 rs41317153 Benign
14798 P08123 (COL1A2) G R 586 rs72658139 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14799 P08123 (COL1A2) G S 592 rs72658141 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14800 P08123 (COL1A2) G S 601 rs72658143 Benign
14801 P08123 (COL1A2) G D 625 rs72658145 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14802 P08123 (COL1A2) G V 634 rs72658147 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14803 P08123 (COL1A2) G D 637 rs72658148 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14804 P08123 (COL1A2) G S 640 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14805 P08123 (COL1A2) G D 670 rs72658155 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14806 P08123 (COL1A2) G D 676 rs66883877 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14807 P08123 (COL1A2) G V 676 rs66883877 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14808 P08123 (COL1A2) P H 678 rs409108 Benign
14809 P08123 (COL1A2) G D 715 rs72658167 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14810 P08123 (COL1A2) G C 730 rs72658171 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14811 P08123 (COL1A2) G C 733 rs72658172 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14812 P08123 (COL1A2) G C 736 rs72658173 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14813 P08123 (COL1A2) G R 739 rs72658174 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14814 P08123 (COL1A2) A G 743 rs408535 Benign
14815 P08123 (COL1A2) G V 748 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14816 P08123 (COL1A2) G S 751 rs72658176 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14817 P08123 (COL1A2) G C 754 rs72658177 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14818 P08123 (COL1A2) G R 754 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14819 P08123 (COL1A2) G V 766 rs72658183 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14820 P08123 (COL1A2) G S 778 rs72658186 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14821 P08123 (COL1A2) G R 784 rs66592844 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14822 P08123 (COL1A2) G C 787 rs72658187 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14823 P08123 (COL1A2) G D 790 rs72658188 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14824 P08123 (COL1A2) G S 796 rs66716547 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14825 P08123 (COL1A2) G S 820 rs72658191 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14826 P08123 (COL1A2) R H 822 rs1800240 Benign
14827 P08123 (COL1A2) G C 835 - Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14828 P08123 (COL1A2) G S 835 rs72658193 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14829 P08123 (COL1A2) G R 856 - Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14830 P08123 (COL1A2) G V 856 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14831 P08123 (COL1A2) G C 877 rs72658201 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14832 P08123 (COL1A2) G D 892 rs72659304 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14833 P08123 (COL1A2) G D 895 rs72659305 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14834 P08123 (COL1A2) G S 949 rs72659312 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14835 P08123 (COL1A2) G D 955 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14836 P08123 (COL1A2) G S 955 rs66507857 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14837 P08123 (COL1A2) G V 973 rs67609234 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14838 P08123 (COL1A2) G D 982 rs67422093 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14839 P08123 (COL1A2) G V 991 rs72659316 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14840 P08123 (COL1A2) G D 997 rs72659317 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14841 P08123 (COL1A2) G D 1003 rs1114167414 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14842 P08123 (COL1A2) G S 1012 rs72659319 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14843 P08123 (COL1A2) L F 1022 rs392609 Benign
14844 P08123 (COL1A2) G E 1027 rs72659323 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14845 P08123 (COL1A2) G D 1066 rs72659331 Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14846 P08123 (COL1A2) R H 1067 rs530026906 Benign
14847 P08123 (COL1A2) G C 1078 - Disease: Osteogenesis imperfecta 2 (OI2) [MIM:166210]
14848 P08123 (COL1A2) G D 1087 rs72659335 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14849 P08123 (COL1A2) G A 1096 rs72659337 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14850 P08123 (COL1A2) P L 1101 - Benign
14851 P08123 (COL1A2) G R 1102 rs67768540 Disease: Osteogenesis imperfecta 4 (OI4) [MIM:166220]
14852 P08123 (COL1A2) T P 1148 rs1800250 Disease: Osteogenesis imperfecta 3 (OI3) [MIM:259420]
14853 P08123 (COL1A2) D E 1189 rs422361 Benign
14854 P08123 (COL1A2) C Y 1195 rs72659342 Disease: Osteogenesis imperfecta 1 (OI1) [MIM:166200]
14855 P08123 (COL1A2) S P 1198 rs384487 Benign
14856 P08123 (COL1A2) Q H 1354 rs418570 Benign
14857 P08134 (RHOC) D H 120 rs11538959 Benign
14858 P08138 (NGFR) S L 205 rs2072446 Benign
14859 P08151 (GLI1) D A 884 - Benign
14860 P08151 (GLI1) G D 933 rs2228224 Benign
14861 P08151 (GLI1) G V 1012 rs2229300 Benign
14862 P08151 (GLI1) E Q 1100 rs2228226 Benign
14863 P08174 (CD55) R L 52 rs28371588 Benign
14864 P08174 (CD55) R P 52 rs28371588 Benign
14865 P08174 (CD55) L R 82 rs147474393 Benign
14866 P08174 (CD55) S L 199 rs1135402914 Benign
14867 P08174 (CD55) A P 227 rs60822373 Benign
14868 P08174 (CD55) R H 240 rs199705465 Benign
14869 P08174 (CD55) C S 267 rs1135402917 Disease: Complement hyperactivat ion, angiopathic thrombosis, and protein- losing enteropathy (CHAPLE) [MIM:226300]
14870 P08183 (ABCB1) F L 17 rs28381804 Benign
14871 P08183 (ABCB1) N D 21 rs9282564 Benign
14872 P08183 (ABCB1) N S 44 rs1202183 Benign
14873 P08183 (ABCB1) A E 80 rs9282565 Benign
14874 P08183 (ABCB1) F L 103 - Benign
14875 P08183 (ABCB1) E K 108 - Benign
14876 P08183 (ABCB1) G V 185 rs1128501 Benign
14877 P08183 (ABCB1) I V 261 rs36008564 Benign
14878 P08183 (ABCB1) S N 400 rs2229109 Benign
14879 P08183 (ABCB1) E K 566 rs28381902 Benign
14880 P08183 (ABCB1) R C 593 rs28381914 Benign
14881 P08183 (ABCB1) A T 599 rs2235036 Benign
14882 P08183 (ABCB1) R C 669 rs35023033 Benign
14883 P08183 (ABCB1) V M 801 rs2235039 Benign
14884 P08183 (ABCB1) I V 829 rs2032581 Benign
14885 P08183 (ABCB1) I V 836 rs28381967 Benign
14886 P08183 (ABCB1) S A 893 rs2032582 Benign
14887 P08183 (ABCB1) S T 893 rs2032582 Benign
14888 P08183 (ABCB1) M V 986 rs926081975 Benign
14889 P08183 (ABCB1) A T 999 rs72552784 Benign
14890 P08183 (ABCB1) P A 1051 rs28401798 Benign
14891 P08183 (ABCB1) Q P 1107 rs55852620 Benign
14892 P08183 (ABCB1) S T 1141 rs2229107 Benign
14893 P08183 (ABCB1) V I 1251 rs28364274 Benign
14894 P08185 (SERPINA6) L H 115 rs113418909 Disease: Corticostero id-binding globulin deficiency (CBG deficiency) [MIM:611489]
14895 P08185 (SERPINA6) S A 246 rs2228541 Benign
14896 P08185 (SERPINA6) D N 389 rs28929488 Disease: Corticostero id-binding globulin deficiency (CBG deficiency) [MIM:611489]
14897 P08217 (CELA2A) T M 70 - Disease: Abdominal obesity- metabolic syndrome 4 (AOMS4) [MIM:618620]
14898 P08217 (CELA2A) D N 121 - Disease: Abdominal obesity- metabolic syndrome 4 (AOMS4) [MIM:618620]
14899 P08217 (CELA2A) N S 257 rs2303193 Benign
14900 P08218 (CELA2B) G R 79 rs3820071 Benign
14901 P08218 (CELA2B) D N 114 rs3766160 Benign
14902 P08218 (CELA2B) Q R 177 rs6429745 Benign
14903 P08218 (CELA2B) G S 235 rs3737703 Benign
14904 P08235 (NR3C2) V I 180 rs5522 Benign
14905 P08235 (NR3C2) V A 241 - Benign
14906 P08235 (NR3C2) N T 444 rs5523 Benign
14907 P08235 (NR3C2) R Q 537 rs5526 Benign
14908 P08235 (NR3C2) N S 554 rs5527 Benign
14909 P08235 (NR3C2) G R 633 rs121912566 Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14910 P08235 (NR3C2) C S 645 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14911 P08235 (NR3C2) R S 659 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14912 P08235 (NR3C2) P S 759 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14913 P08235 (NR3C2) L P 769 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14914 P08235 (NR3C2) N K 770 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14915 P08235 (NR3C2) Q R 776 rs121912565 Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14916 P08235 (NR3C2) S P 805 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14917 P08235 (NR3C2) S L 810 rs41511344 Disease: Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]
14918 P08235 (NR3C2) S R 815 - Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14919 P08235 (NR3C2) S L 818 rs121912573 Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14920 P08235 (NR3C2) F Y 826 rs13306592 Benign
14921 P08235 (NR3C2) L P 924 rs121912563 Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14922 P08235 (NR3C2) E G 972 rs121912574 Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14923 P08235 (NR3C2) L P 979 rs121912567 Disease: Pseudohypoal dosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
14924 P08236 (GUSB) P S 30 rs747792546 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14925 P08236 (GUSB) C G 38 rs779499448 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14926 P08236 (GUSB) S F 52 rs1424546265 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14927 P08236 (GUSB) G R 136 rs1417426295 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14928 P08236 (GUSB) P S 148 rs121918177 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14929 P08236 (GUSB) E K 150 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14930 P08236 (GUSB) D N 152 rs149606212 Benign
14931 P08236 (GUSB) D G 152 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14932 P08236 (GUSB) L F 176 rs121918181 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14933 P08236 (GUSB) R W 216 rs121918174 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14934 P08236 (GUSB) L P 243 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14935 P08236 (GUSB) Y C 320 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14936 P08236 (GUSB) Y S 320 rs886044680 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14937 P08236 (GUSB) N S 339 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14938 P08236 (GUSB) K N 350 rs121918182 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14939 P08236 (GUSB) H Y 351 rs191153460 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14940 P08236 (GUSB) A V 354 rs121918175 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14941 P08236 (GUSB) D N 362 rs398123234 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14942 P08236 (GUSB) P L 364 rs771629102 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14943 P08236 (GUSB) R C 374 rs747572640 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14944 P08236 (GUSB) L F 376 rs11559283 Benign
14945 P08236 (GUSB) R C 382 rs121918173 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14946 P08236 (GUSB) R H 382 rs764018631 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14947 P08236 (GUSB) P S 408 rs779091113 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14948 P08236 (GUSB) P L 415 rs751025746 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14949 P08236 (GUSB) R P 435 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14950 P08236 (GUSB) R W 477 rs774393243 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14951 P08236 (GUSB) Y C 495 rs121918178 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14952 P08236 (GUSB) Y C 508 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14953 P08236 (GUSB) E K 540 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14954 P08236 (GUSB) G D 572 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14955 P08236 (GUSB) R L 577 rs121918183 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14956 P08236 (GUSB) K N 606 - Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14957 P08236 (GUSB) G A 607 rs1250112198 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14958 P08236 (GUSB) R W 611 rs121918176 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14959 P08236 (GUSB) A V 619 rs121918172 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14960 P08236 (GUSB) Y H 626 rs777613366 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14961 P08236 (GUSB) W C 627 rs121918184 Disease: Mucopolysacc haridosis 7 (MPS7) [MIM:253220]
14962 P08236 (GUSB) L P 649 rs9530 Benign
14963 P08237 (PFKM) R L 39 rs121918193 Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14964 P08237 (PFKM) R P 39 rs121918193 Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14965 P08237 (PFKM) G V 57 - Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14966 P08237 (PFKM) R Q 100 rs2228500 Benign
14967 P08237 (PFKM) S C 180 - Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14968 P08237 (PFKM) G D 209 rs767265360 Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14969 P08237 (PFKM) D G 309 rs1169383137 Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14970 P08237 (PFKM) D A 543 rs121918194 Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14971 P08237 (PFKM) D A 591 - Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14972 P08237 (PFKM) W C 686 rs121918196 Disease: Glycogen storage disease 7 (GSD7) [MIM:232800]
14973 P08237 (PFKM) R H 696 rs41291971 Benign
14974 P08238 (HSP90AB1) K E 349 rs11538975 Benign
14975 P08243 (ASNS) A E 6 rs398122975 Disease: Asparagine synthetase deficiency (ASNSD) [MIM:615574]
14976 P08243 (ASNS) V E 210 rs1049674 Benign
14977 P08243 (ASNS) F V 362 rs398122973 Disease: Asparagine synthetase deficiency (ASNSD) [MIM:615574]
14978 P08243 (ASNS) R C 550 rs398122974 Disease: Asparagine synthetase deficiency (ASNSD) [MIM:615574]
14979 P08246 (ELANE) A V 25 rs1396230082 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14980 P08246 (ELANE) P L 42 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14981 P08246 (ELANE) F L 43 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14982 P08246 (ELANE) M R 44 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14983 P08246 (ELANE) V E 45 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14984 P08246 (ELANE) V L 45 - Disease: Cyclic haematopoies is (CH) [MIM:162800]
14985 P08246 (ELANE) S C 46 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14986 P08246 (ELANE) S F 46 rs878855320 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14987 P08246 (ELANE) L P 47 rs878855319 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14988 P08246 (ELANE) L R 47 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14989 P08246 (ELANE) L P 49 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14990 P08246 (ELANE) H L 53 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14991 P08246 (ELANE) H Q 53 - Disease: Cyclic haematopoies is (CH) [MIM:162800]
14992 P08246 (ELANE) H Y 53 rs1131691882 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14993 P08246 (ELANE) C S 55 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14994 P08246 (ELANE) C Y 55 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14995 P08246 (ELANE) G R 56 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14996 P08246 (ELANE) A S 57 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14997 P08246 (ELANE) A T 57 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14998 P08246 (ELANE) A V 57 rs1057520110 Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
14999 P08246 (ELANE) L P 59 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]
15000 P08246 (ELANE) I T 60 - Disease: Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]

Reference

  • Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

    • zhanglabzhanggroup.org | +65-6601-1241 | Computing 1, 13 Computing Drive, Singapore 117417