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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]
35001 P78562 (PHEX) F Y 731 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
35002 P78562 (PHEX) C S 733 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
35003 P78562 (PHEX) C W 746 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
35004 P78562 (PHEX) W R 749 rs1556206403 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
35005 P78563 (ADARB1) V A 224 rs199697177 Benign
35006 P79483 (HLA-DRB3) L S 37 - Benign
35007 P79483 (HLA-DRB3) E Q 38 rs1071747 Benign
35008 P79483 (HLA-DRB3) L Y 39 - Benign
35009 P79483 (HLA-DRB3) R C 40 - Benign
35010 P79483 (HLA-DRB3) R L 40 rs1071748 Benign
35011 P79483 (HLA-DRB3) R S 40 rs1136752 Benign
35012 P79483 (HLA-DRB3) K T 41 rs200581589 Benign
35013 P79483 (HLA-DRB3) Y F 55 rs147440497 Benign
35014 P79483 (HLA-DRB3) Y L 55 - Benign
35015 P79483 (HLA-DRB3) D E 57 rs202185589 Benign
35016 P79483 (HLA-DRB3) D N 57 rs142793258 Benign
35017 P79483 (HLA-DRB3) R I 58 rs1407020168 Benign
35018 P79483 (HLA-DRB3) Y H 59 rs138849995 Benign
35019 P79483 (HLA-DRB3) F L 66 rs707956 Benign
35020 P79483 (HLA-DRB3) F N 66 - Benign
35021 P79483 (HLA-DRB3) F S 66 rs200042906 Benign
35022 P79483 (HLA-DRB3) F Y 66 rs200042906 Benign
35023 P79483 (HLA-DRB3) L A 67 - Benign
35024 P79483 (HLA-DRB3) L V 67 rs1059580 Benign
35025 P79483 (HLA-DRB3) R S 68 rs774894415 Benign
35026 P79483 (HLA-DRB3) T R 80 rs79606458 Benign
35027 P79483 (HLA-DRB3) R L 84 - Benign
35028 P79483 (HLA-DRB3) V A 86 rs144532965 Benign
35029 P79483 (HLA-DRB3) V D 86 rs144532965 Benign
35030 P79483 (HLA-DRB3) V S 86 - Benign
35031 P79483 (HLA-DRB3) A E 87 - Benign
35032 P79483 (HLA-DRB3) S H 89 - Benign
35033 P79483 (HLA-DRB3) S Y 89 rs41541218 Benign
35034 P79483 (HLA-DRB3) L F 96 rs696318 Benign
35035 P79483 (HLA-DRB3) L I 96 rs696318 Benign
35036 P79483 (HLA-DRB3) G A 102 rs17878857 Benign
35037 P79483 (HLA-DRB3) R Q 103 rs1059598 Benign
35038 P79483 (HLA-DRB3) N T 106 rs115817940 Benign
35039 P79483 (HLA-DRB3) G R 113 - Benign
35040 P79483 (HLA-DRB3) V A 114 rs1136778 Benign
35041 P79483 (HLA-DRB3) G A 115 - Benign
35042 P79483 (HLA-DRB3) G V 115 rs41556512 Benign
35043 P79483 (HLA-DRB3) A T 169 rs75709987 Benign
35044 P79483 (HLA-DRB3) Q H 178 rs139485758 Benign
35045 P79483 (HLA-DRB3) V F 193 - Benign
35046 P79483 (HLA-DRB3) A P 212 rs142204283 Benign
35047 P79483 (HLA-DRB3) R S 218 rs147669022 Benign
35048 P79522 (PRR3) G S 61 rs3888778 Benign
35049 P80075 (CCL8) A V 14 rs35401229 Benign
35050 P80075 (CCL8) K Q 69 rs1133763 Benign
35051 P80108 (GPLD1) L V 17 rs2235501 Benign
35052 P80108 (GPLD1) V I 30 rs1126617 Benign
35053 P80108 (GPLD1) D E 275 rs17300770 Benign
35054 P80108 (GPLD1) I V 350 rs1062496 Benign
35055 P80108 (GPLD1) G S 396 rs6924628 Benign
35056 P80108 (GPLD1) V M 461 rs1062505 Benign
35057 P80108 (GPLD1) M V 694 rs1042303 Benign
35058 P80108 (GPLD1) T I 698 rs1772256 Benign
35059 P80192 (MAP3K9) R Q 497 rs56196343 Benign
35060 P80192 (MAP3K9) Y C 646 rs34322726 Benign
35061 P80217 (IFI35) M V 126 rs588703 Benign
35062 P80303 (NUCB2) Q E 338 rs757081 Benign
35063 P80365 (HSD11B2) R H 147 rs13306425 Benign
35064 P80365 (HSD11B2) L R 179 - Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35065 P80365 (HSD11B2) S F 180 - Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35066 P80365 (HSD11B2) R C 186 rs768507002 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35067 P80365 (HSD11B2) R C 208 rs121917780 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35068 P80365 (HSD11B2) R H 208 rs28934592 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35069 P80365 (HSD11B2) R C 213 rs28934591 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35070 P80365 (HSD11B2) D N 223 rs121917833 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35071 P80365 (HSD11B2) P L 227 rs121917782 Benign
35072 P80365 (HSD11B2) A V 237 rs1309642469 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35073 P80365 (HSD11B2) D N 244 - Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35074 P80365 (HSD11B2) L R 250 - Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35075 P80365 (HSD11B2) R C 279 rs28934594 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35076 P80365 (HSD11B2) A V 328 rs1453036708 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35077 P80365 (HSD11B2) R C 337 rs121917781 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35078 P80365 (HSD11B2) Y H 338 rs387907117 Disease: Apparent mineralocort icoid excess (AME) [MIM:218030]
35079 P80370 (DLK1) Q L 73 rs34686110 Benign
35080 P80370 (DLK1) R G 101 rs6575799 Benign
35081 P80370 (DLK1) V M 104 rs2273607 Benign
35082 P80370 (DLK1) D G 108 rs1058006 Benign
35083 P80370 (DLK1) S N 260 rs1058009 Benign
35084 P80404 (ABAT) Q R 56 rs1731017 Benign
35085 P80404 (ABAT) R K 220 rs121434578 Disease: GABA transaminase deficiency (GABATD) [MIM:613163]
35086 P80723 (BASP1) A V 76 rs3733748 Benign
35087 P81133 (SIM1) L F 175 rs438766 Benign
35088 P81133 (SIM1) P T 352 rs3734354 Benign
35089 P81133 (SIM1) A V 371 rs3734355 Benign
35090 P81172 (HAMP) R G 59 rs779021719 Disease: Hemochromato sis 2B (HFE2B) [MIM:613313]
35091 P81172 (HAMP) C R 70 rs1374259518 Disease: Hemochromato sis 2B (HFE2B) [MIM:613313]
35092 P81172 (HAMP) G D 71 rs104894696 Disease: Hemochromato sis 2B (HFE2B) [MIM:613313]
35093 P81172 (HAMP) C Y 78 rs1462013476 Disease: Hemochromato sis 2B (HFE2B) [MIM:613313]
35094 P81408 (FAM189B) R H 549 rs2072648 Benign
35095 P81408 (FAM189B) R H 646 rs2072648 Benign
35096 P82094 (TMF1) Q E 430 rs35447207 Benign
35097 P82094 (TMF1) C Y 448 rs34428015 Benign
35098 P82094 (TMF1) Q R 682 rs3736422 Benign
35099 P82094 (TMF1) D H 798 rs1532918 Benign
35100 P82251 (SLC7A9) I T 44 rs121908485 Disease: Cystinuria (CSNU) [MIM:220100]
35101 P82251 (SLC7A9) P L 52 rs1198613438 Disease: Cystinuria (CSNU) [MIM:220100]
35102 P82251 (SLC7A9) V M 62 rs964489627 Disease: Cystinuria (CSNU) [MIM:220100]
35103 P82251 (SLC7A9) G R 63 rs1395997436 Disease: Cystinuria (CSNU) [MIM:220100]
35104 P82251 (SLC7A9) W L 69 - Disease: Cystinuria (CSNU) [MIM:220100]
35105 P82251 (SLC7A9) A V 70 rs769448665 Disease: Cystinuria (CSNU) [MIM:220100]
35106 P82251 (SLC7A9) G E 105 - Disease: Cystinuria (CSNU) [MIM:220100]
35107 P82251 (SLC7A9) G R 105 rs121908480 Disease: Cystinuria (CSNU) [MIM:220100]
35108 P82251 (SLC7A9) T M 123 rs79987078 Disease: Cystinuria (CSNU) [MIM:220100]
35109 P82251 (SLC7A9) A T 126 rs372306844 Disease: Cystinuria (CSNU) [MIM:220100]
35110 P82251 (SLC7A9) V A 142 rs12150889 Benign
35111 P82251 (SLC7A9) V M 170 rs121908479 Disease: Cystinuria (CSNU) [MIM:220100]
35112 P82251 (SLC7A9) A T 182 rs79389353 Disease: Cystinuria (CSNU) [MIM:220100]
35113 P82251 (SLC7A9) I F 187 rs368441237 Disease: Cystinuria (CSNU) [MIM:220100]
35114 P82251 (SLC7A9) V M 188 rs531029519 Disease: Cystinuria (CSNU) [MIM:220100]
35115 P82251 (SLC7A9) G R 195 rs121908482 Disease: Cystinuria (CSNU) [MIM:220100]
35116 P82251 (SLC7A9) L M 223 rs1007160 Benign
35117 P82251 (SLC7A9) A V 224 rs140873167 Disease: Cystinuria (CSNU) [MIM:220100]
35118 P82251 (SLC7A9) N D 227 - Disease: Cystinuria (CSNU) [MIM:220100]
35119 P82251 (SLC7A9) W R 230 - Disease: Cystinuria (CSNU) [MIM:220100]
35120 P82251 (SLC7A9) Y C 232 rs121908487 Disease: Cystinuria (CSNU) [MIM:220100]
35121 P82251 (SLC7A9) I T 241 rs777371504 Disease: Cystinuria (CSNU) [MIM:220100]
35122 P82251 (SLC7A9) R K 250 rs766529640 Disease: Cystinuria (CSNU) [MIM:220100]
35123 P82251 (SLC7A9) G R 259 rs121908483 Disease: Cystinuria (CSNU) [MIM:220100]
35124 P82251 (SLC7A9) P L 261 rs121908486 Disease: Cystinuria (CSNU) [MIM:220100]
35125 P82251 (SLC7A9) L F 283 rs1357600282 Disease: Cystinuria (CSNU) [MIM:220100]
35126 P82251 (SLC7A9) A V 316 - Disease: Cystinuria (CSNU) [MIM:220100]
35127 P82251 (SLC7A9) G R 319 - Disease: Cystinuria (CSNU) [MIM:220100]
35128 P82251 (SLC7A9) V M 330 rs201618022 Disease: Cystinuria (CSNU) [MIM:220100]
35129 P82251 (SLC7A9) A V 331 rs768466784 Disease: Cystinuria (CSNU) [MIM:220100]
35130 P82251 (SLC7A9) R Q 333 rs769576205 Disease: Cystinuria (CSNU) [MIM:220100]
35131 P82251 (SLC7A9) R W 333 rs121908484 Disease: Cystinuria (CSNU) [MIM:220100]
35132 P82251 (SLC7A9) A T 354 rs939028046 Disease: Cystinuria (CSNU) [MIM:220100]
35133 P82251 (SLC7A9) S R 379 rs142270619 Disease: Cystinuria (CSNU) [MIM:220100]
35134 P82251 (SLC7A9) A T 382 rs774878350 Disease: Cystinuria (CSNU) [MIM:220100]
35135 P82251 (SLC7A9) P L 482 rs146815072 Disease: Cystinuria (CSNU) [MIM:220100]
35136 P82279 (CRB1) C F 27 rs1460946384 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35137 P82279 (CRB1) C W 45 rs145141811 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35138 P82279 (CRB1) F V 144 rs62636262 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35139 P82279 (CRB1) C S 157 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35140 P82279 (CRB1) A V 161 rs62635651 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35141 P82279 (CRB1) V M 162 rs137853138 Disease: Pigmented paravenous chorioretina l atrophy (PPCRA) [MIM:172870]
35142 P82279 (CRB1) C F 195 rs764256655 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35143 P82279 (CRB1) E K 222 rs114846212 Benign
35144 P82279 (CRB1) C W 250 rs62635652 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35145 P82279 (CRB1) T M 289 rs62636263 Benign
35146 P82279 (CRB1) C Y 310 rs779835125 Disease: -
35147 P82279 (CRB1) N K 312 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35148 P82279 (CRB1) G D 333 rs587783015 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35149 P82279 (CRB1) C Y 383 rs62645754 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35150 P82279 (CRB1) Y C 433 rs62636288 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35151 P82279 (CRB1) C Y 438 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35152 P82279 (CRB1) G R 454 rs954595597 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35153 P82279 (CRB1) L P 479 rs963201816 Disease: -
35154 P82279 (CRB1) C G 480 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35155 P82279 (CRB1) C R 480 rs62636264 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35156 P82279 (CRB1) F S 488 rs777377174 Benign
35157 P82279 (CRB1) K N 534 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35158 P82279 (CRB1) L P 535 rs113082791 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35159 P82279 (CRB1) D Y 564 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35160 P82279 (CRB1) V E 578 rs1266363944 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35161 P82279 (CRB1) D Y 584 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35162 P82279 (CRB1) C Y 587 rs1471328495 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35163 P82279 (CRB1) W C 675 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35164 P82279 (CRB1) Q E 679 rs62636286 Benign
35165 P82279 (CRB1) C Y 681 rs62636266 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35166 P82279 (CRB1) E Q 710 rs62645755 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35167 P82279 (CRB1) E V 710 rs145282040 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35168 P82279 (CRB1) S F 740 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35169 P82279 (CRB1) M T 741 rs62636267 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35170 P82279 (CRB1) T M 745 rs28939720 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35171 P82279 (CRB1) L P 753 rs896160584 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35172 P82279 (CRB1) R C 764 rs62635654 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35173 P82279 (CRB1) R H 769 rs62636287 Benign
35174 P82279 (CRB1) R Q 769 - Benign
35175 P82279 (CRB1) T M 821 rs142857810 Benign
35176 P82279 (CRB1) P T 836 rs116471343 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35177 P82279 (CRB1) D H 837 rs62636289 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35178 P82279 (CRB1) G R 846 rs539189291 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35179 P82279 (CRB1) G S 850 rs776591659 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35180 P82279 (CRB1) I T 852 rs62636271 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35181 P82279 (CRB1) C G 891 rs62635658 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35182 P82279 (CRB1) R Q 905 rs114052315 Benign
35183 P82279 (CRB1) A P 921 - Disease: -
35184 P82279 (CRB1) C Y 939 rs1411345985 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35185 P82279 (CRB1) C R 948 rs62645747 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35186 P82279 (CRB1) C Y 948 rs62645748 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35187 P82279 (CRB1) N I 986 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35188 P82279 (CRB1) I T 989 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35189 P82279 (CRB1) I T 1003 rs1409740542 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35190 P82279 (CRB1) L S 1012 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35191 P82279 (CRB1) S I 1025 rs62636274 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35192 P82279 (CRB1) S N 1025 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35193 P82279 (CRB1) D N 1031 - Disease: -
35194 P82279 (CRB1) M T 1041 rs62635656 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35195 P82279 (CRB1) L P 1071 rs62635657 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35196 P82279 (CRB1) T K 1099 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35197 P82279 (CRB1) I R 1100 rs62635659 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35198 P82279 (CRB1) I T 1100 rs62635659 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35199 P82279 (CRB1) G R 1103 rs62636275 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35200 P82279 (CRB1) L P 1107 rs62636276 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35201 P82279 (CRB1) L R 1107 rs62636276 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35202 P82279 (CRB1) Y C 1161 rs1414707912 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35203 P82279 (CRB1) C W 1165 - Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35204 P82279 (CRB1) C G 1174 rs917768074 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35205 P82279 (CRB1) C R 1181 rs62636291 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35206 P82279 (CRB1) Y C 1198 - Disease: -
35207 P82279 (CRB1) G R 1205 rs574742644 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35208 P82279 (CRB1) C F 1218 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35209 P82279 (CRB1) C S 1223 - Disease: -
35210 P82279 (CRB1) P L 1305 rs1391910861 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35211 P82279 (CRB1) N H 1317 rs62636281 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35212 P82279 (CRB1) C S 1321 rs62635649 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35213 P82279 (CRB1) R H 1331 rs62636285 Benign
35214 P82279 (CRB1) C F 1332 rs377543137 Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35215 P82279 (CRB1) A T 1354 rs200469148 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35216 P82279 (CRB1) A D 1365 - Disease: -
35217 P82279 (CRB1) P L 1381 - Disease: Leber congenital amaurosis 8 (LCA8) [MIM:613835]
35218 P82279 (CRB1) R H 1383 rs200573274 Disease: Retinitis pigmentosa 12 (RP12) [MIM:600105]
35219 P82650 (MRPS22) R H 170 rs119478059 Disease: Combined oxidative phosphorylat ion deficiency 5 (COXPD5) [MIM:611719]
35220 P82673 (MRPS35) L I 6 rs35475802 Benign
35221 P82912 (MRPS11) R W 10 rs16941904 Benign
35222 P82912 (MRPS11) Q H 51 rs16941907 Benign
35223 P82921 (MRPS21) C R 50 rs10480 Benign
35224 P82921 (MRPS21) R Q 51 rs4845 Benign
35225 P82930 (MRPS34) E K 13 rs1131692037 Disease: Combined oxidative phosphorylat ion deficiency 32 (COXPD32) [MIM:617664]
35226 P82930 (MRPS34) L I 33 rs11552431 Benign
35227 P82933 (MRPS9) S L 13 rs13399067 Benign
35228 P82980 (RBP5) D N 19 rs10963 Benign
35229 P82980 (RBP5) E Q 70 rs7969705 Benign
35230 P82980 (RBP5) M L 115 rs2290237 Benign
35231 P82987 (ADAMTSL3) H R 146 rs4483821 Benign
35232 P82987 (ADAMTSL3) L V 290 rs4144691 Benign
35233 P82987 (ADAMTSL3) V L 661 rs4842838 Benign
35234 P82987 (ADAMTSL3) G R 713 rs34047645 Benign
35235 P82987 (ADAMTSL3) R H 855 rs2277848 Benign
35236 P82987 (ADAMTSL3) L F 869 rs2277849 Benign
35237 P82987 (ADAMTSL3) T A 1370 rs17158450 Benign
35238 P82987 (ADAMTSL3) M T 1558 rs7175910 Benign
35239 P82987 (ADAMTSL3) T I 1660 rs950169 Benign
35240 P82987 (ADAMTSL3) R H 1679 rs11857906 Benign
35241 P83111 (LACTB) R K 469 rs2729835 Benign
35242 P83436 (COG7) T M 605 rs16940094 Benign
35243 P83859 (QRFP) L H 68 rs12340616 Benign
35244 P84022 (SMAD3) A V 112 rs387906854 Disease: Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
35245 P84022 (SMAD3) I V 170 rs35874463 Benign
35246 P84022 (SMAD3) E K 239 rs387906853 Disease: Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
35247 P84022 (SMAD3) T I 261 rs387906851 Disease: Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
35248 P84022 (SMAD3) R K 279 rs387906852 Disease: Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
35249 P84022 (SMAD3) R W 287 rs387906850 Disease: Loeys-Dietz syndrome 3 (LDS3) [MIM:613795]
35250 P84074 (HPCA) E D 21 rs11554958 Benign
35251 P84074 (HPCA) T N 71 rs775863165 Disease: Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]
35252 P84074 (HPCA) N K 75 rs786205675 Disease: Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]
35253 P84074 (HPCA) A T 190 rs550921485 Disease: Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500]
35254 P84077 (ARF1) Y H 35 rs879036238 Disease: Periventricu lar nodular heterotopia 8 (PVNH8) [MIM:618185]
35255 P84077 (ARF1) K E 127 - Disease: Periventricu lar nodular heterotopia 8 (PVNH8) [MIM:618185]
35256 P84101 (SERF2) D Y 40 rs11269 Benign
35257 P84243 (H3-3A) K M 28 rs1057519903 Disease: Glioma (GLM) [MIM:137800]
35258 P84243 (H3-3A) G R 35 rs1553260624 Disease: Glioma (GLM) [MIM:137800]
35259 P84243 (H3-3A) G V 35 - Disease: Glioma (GLM) [MIM:137800]
35260 P84243 (H3-3A) G W 35 - Disease: -
35261 P84243 (H3-3A) K M 37 - Disease: -
35262 P84550 (SKOR1) K Q 73 rs776369126 Benign
35263 P84996 (GNAS) P T 374 rs1376506169 Disease: GNAS hyperfunctio n (GNASHYP) [MIM:139320]
35264 P84996 (GNAS) L V 397 - Disease: GNAS hyperfunctio n (GNASHYP) [MIM:139320]
35265 P85298 (ARHGAP8) Y C 172 rs16992915 Benign
35266 P85298 (ARHGAP8) G R 333 rs6007344 Benign
35267 P85298 (ARHGAP8) P L 415 rs2071762 Benign
35268 P85298 (ARHGAP8) P R 418 rs9614957 Benign
35269 P85299 (PRR5) V M 243 rs36082900 Benign
35270 P98066 (TNFAIP6) Q R 144 rs1046668 Benign
35271 P98073 (TMPRSS15) T I 65 rs35987974 Benign
35272 P98073 (TMPRSS15) K R 77 rs2824804 Benign
35273 P98073 (TMPRSS15) E Q 134 rs2824790 Benign
35274 P98073 (TMPRSS15) S C 545 rs8134187 Benign
35275 P98073 (TMPRSS15) E K 641 rs2273204 Benign
35276 P98073 (TMPRSS15) N H 660 rs11088674 Benign
35277 P98073 (TMPRSS15) P S 732 rs2824721 Benign
35278 P98073 (TMPRSS15) Y C 828 rs8130110 Benign
35279 P98082 (DAB2) T I 586 rs700241 Benign
35280 P98082 (DAB2) S N 634 rs3733801 Benign
35281 P98088 (MUC5AC) P L 5521 rs1132436 Benign
35282 P98095 (FBLN2) I V 45 rs60850813 Benign
35283 P98095 (FBLN2) H R 144 rs28587534 Benign
35284 P98095 (FBLN2) S G 361 rs3732666 Benign
35285 P98095 (FBLN2) N T 387 rs3796318 Benign
35286 P98095 (FBLN2) T A 854 rs9843344 Benign
35287 P98095 (FBLN2) G R 1114 rs1061375 Benign
35288 P98153 (DGCR2) V A 473 rs2072123 Benign
35289 P98155 (VLDLR) V I 59 rs6149 Benign
35290 P98155 (VLDLR) P H 262 rs34761707 Benign
35291 P98155 (VLDLR) E K 379 rs6146 Benign
35292 P98155 (VLDLR) L I 464 rs34753566 Benign
35293 P98155 (VLDLR) I V 561 rs35724190 Benign
35294 P98155 (VLDLR) R H 613 rs35948251 Benign
35295 P98155 (VLDLR) V I 791 rs35334949 Benign
35296 P98160 (HSPG2) D E 68 rs1869780 Benign
35297 P98160 (HSPG2) L H 303 rs17460381 Benign
35298 P98160 (HSPG2) M V 638 rs1874792 Benign
35299 P98160 (HSPG2) N S 765 rs989994 Benign
35300 P98160 (HSPG2) R Q 1186 rs2229481 Benign
35301 P98160 (HSPG2) L V 1323 rs10917058 Benign
35302 P98160 (HSPG2) A V 1503 rs897471 Benign
35303 P98160 (HSPG2) C Y 1532 rs137853248 Disease: Schwartz- Jampel syndrome (SJS1) [MIM:255800]
35304 P98160 (HSPG2) R Q 1758 rs2229483 Benign
35305 P98160 (HSPG2) R C 1919 rs2229474 Benign
35306 P98160 (HSPG2) V I 1967 rs2229475 Benign
35307 P98160 (HSPG2) L H 2980 rs2229489 Benign
35308 P98160 (HSPG2) V I 2981 rs2229490 Benign
35309 P98160 (HSPG2) S G 2995 rs2229491 Benign
35310 P98160 (HSPG2) A T 3168 rs2228349 Benign
35311 P98160 (HSPG2) H Y 3256 rs2291827 Benign
35312 P98160 (HSPG2) R W 3530 rs2270699 Benign
35313 P98160 (HSPG2) R Q 3632 rs2229493 Benign
35314 P98160 (HSPG2) V I 3640 rs17459097 Benign
35315 P98160 (HSPG2) S N 4331 rs3736360 Benign
35316 P98161 (PKD1) L Q 13 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35317 P98161 (PKD1) P H 36 rs560049593 Benign
35318 P98161 (PKD1) S F 75 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35319 P98161 (PKD1) L M 87 - Benign
35320 P98161 (PKD1) A V 88 rs958271752 Benign
35321 P98161 (PKD1) D G 97 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35322 P98161 (PKD1) W C 139 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35323 P98161 (PKD1) Q R 164 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35324 P98161 (PKD1) C G 210 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35325 P98161 (PKD1) R L 324 rs199476099 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35326 P98161 (PKD1) Y C 325 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35327 P98161 (PKD1) G C 381 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35328 P98161 (PKD1) C R 436 rs1555458892 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35329 P98161 (PKD1) A P 442 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35330 P98161 (PKD1) C R 508 rs58598099 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35331 P98161 (PKD1) P S 572 rs149022148 Benign
35332 P98161 (PKD1) F Y 594 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35333 P98161 (PKD1) R W 611 rs1555458413 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35334 P98161 (PKD1) V D 690 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35335 P98161 (PKD1) Y D 698 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35336 P98161 (PKD1) L P 727 rs1616940 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35337 P98161 (PKD1) L R 727 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35338 P98161 (PKD1) P R 738 - Benign
35339 P98161 (PKD1) R Q 739 rs40433 Benign
35340 P98161 (PKD1) L S 845 rs199476100 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35341 P98161 (PKD1) L P 950 rs2369063 Benign
35342 P98161 (PKD1) W R 967 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35343 P98161 (PKD1) Q H 987 rs1266492292 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35344 P98161 (PKD1) M T 1092 rs2549677 Benign
35345 P98161 (PKD1) L R 1114 rs241573 Benign
35346 P98161 (PKD1) G S 1166 rs573566419 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35347 P98161 (PKD1) P S 1168 rs146887330 Benign
35348 P98161 (PKD1) V G 1206 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35349 P98161 (PKD1) R W 1340 rs143690392 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35350 P98161 (PKD1) W R 1399 rs116092985 Benign
35351 P98161 (PKD1) A T 1516 rs148164067 Benign
35352 P98161 (PKD1) R P 1557 rs241572 Benign
35353 P98161 (PKD1) T M 1649 rs761106434 Benign
35354 P98161 (PKD1) T P 1667 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35355 P98161 (PKD1) S L 1684 rs139520275 Benign
35356 P98161 (PKD1) T K 1734 rs241571 Benign
35357 P98161 (PKD1) P L 1786 rs151176070 Benign
35358 P98161 (PKD1) E K 1811 rs778028644 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35359 P98161 (PKD1) A T 1871 rs144137200 Benign
35360 P98161 (PKD1) A V 1926 rs754890213 Benign
35361 P98161 (PKD1) V I 1943 rs137978188 Benign
35362 P98161 (PKD1) G D 1952 - Benign
35363 P98161 (PKD1) V E 1956 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35364 P98161 (PKD1) R H 1995 rs752388015 Benign
35365 P98161 (PKD1) T I 2083 rs1383930225 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35366 P98161 (PKD1) Y C 2092 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35367 P98161 (PKD1) Y D 2185 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35368 P98161 (PKD1) R C 2200 rs140869992 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35369 P98161 (PKD1) Y D 2336 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35370 P98161 (PKD1) C R 2370 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35371 P98161 (PKD1) C Y 2373 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35372 P98161 (PKD1) Y C 2379 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35373 P98161 (PKD1) G D 2391 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35374 P98161 (PKD1) R P 2392 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35375 P98161 (PKD1) R C 2408 rs538769374 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35376 P98161 (PKD1) T K 2422 rs1555453210 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35377 P98161 (PKD1) S F 2423 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35378 P98161 (PKD1) R W 2434 rs151257298 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35379 P98161 (PKD1) P L 2471 rs1161298621 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35380 P98161 (PKD1) R Q 2515 rs2432404 Benign
35381 P98161 (PKD1) S G 2534 rs3874655 Benign
35382 P98161 (PKD1) H Y 2546 rs200037070 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35383 P98161 (PKD1) E Q 2548 rs28369051 Benign
35384 P98161 (PKD1) S C 2569 rs758896945 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35385 P98161 (PKD1) T M 2582 rs2432405 Benign
35386 P98161 (PKD1) D N 2604 rs778565182 Benign
35387 P98161 (PKD1) H R 2638 rs9936785 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35388 P98161 (PKD1) I T 2646 rs374500158 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35389 P98161 (PKD1) P S 2674 rs144557371 Benign
35390 P98161 (PKD1) L R 2696 rs201238819 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35391 P98161 (PKD1) T M 2708 rs147350387 Benign
35392 P98161 (PKD1) P T 2734 rs150568356 Benign
35393 P98161 (PKD1) Q L 2735 rs141717814 Benign
35394 P98161 (PKD1) R P 2746 rs1800569 Benign
35395 P98161 (PKD1) A D 2752 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35396 P98161 (PKD1) M T 2760 rs1800568 Benign
35397 P98161 (PKD1) L V 2763 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35398 P98161 (PKD1) R C 2765 rs144979397 Benign
35399 P98161 (PKD1) R C 2767 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35400 P98161 (PKD1) V M 2768 rs1456510041 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35401 P98161 (PKD1) E K 2771 rs1057518897 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35402 P98161 (PKD1) V M 2782 rs151089809 Benign
35403 P98161 (PKD1) G D 2785 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35404 P98161 (PKD1) R Q 2791 rs367746233 Benign
35405 P98161 (PKD1) P L 2802 rs534112936 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35406 P98161 (PKD1) L P 2816 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35407 P98161 (PKD1) I T 2826 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35408 P98161 (PKD1) G S 2858 rs755522953 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35409 P98161 (PKD1) R G 2888 - Benign
35410 P98161 (PKD1) S R 2889 rs752447240 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35411 P98161 (PKD1) V I 2905 rs147788838 Benign
35412 P98161 (PKD1) H P 2921 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35413 P98161 (PKD1) S L 2958 rs750780241 Benign
35414 P98161 (PKD1) E D 2966 rs13337123 Benign
35415 P98161 (PKD1) D N 2972 rs150189496 Benign
35416 P98161 (PKD1) T N 2977 - Benign
35417 P98161 (PKD1) R G 2985 rs373952574 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35418 P98161 (PKD1) L P 2993 rs1555450487 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35419 P98161 (PKD1) L R 2995 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35420 P98161 (PKD1) Q E 3005 rs1063401 Benign
35421 P98161 (PKD1) V M 3008 rs117896488 Benign
35422 P98161 (PKD1) V L 3008 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35423 P98161 (PKD1) Q R 3016 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35424 P98161 (PKD1) M V 3023 rs17135779 Benign
35425 P98161 (PKD1) R C 3039 rs200522524 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35426 P98161 (PKD1) V M 3057 rs778055216 Benign
35427 P98161 (PKD1) F L 3066 rs9925969 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35428 P98161 (PKD1) G V 3139 - Benign
35429 P98161 (PKD1) L P 3154 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35430 P98161 (PKD1) I F 3167 rs139945204 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35431 P98161 (PKD1) P L 3193 - Benign
35432 P98161 (PKD1) R H 3247 rs140791671 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35433 P98161 (PKD1) V I 3285 rs201780393 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35434 P98161 (PKD1) H R 3311 rs1242837732 Benign
35435 P98161 (PKD1) P L 3355 rs781263445 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35436 P98161 (PKD1) V M 3375 rs371283948 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35437 P98161 (PKD1) T M 3382 rs776463508 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35438 P98161 (PKD1) R Q 3435 rs140189010 Benign
35439 P98161 (PKD1) T M 3510 rs45478794 Benign
35440 P98161 (PKD1) A V 3512 rs34197769 Benign
35441 P98161 (PKD1) G R 3560 rs79000340 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35442 P98161 (PKD1) S N 3562 - Benign
35443 P98161 (PKD1) G S 3602 rs781492044 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35444 P98161 (PKD1) W R 3603 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35445 P98161 (PKD1) E D 3632 rs1416373452 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35446 P98161 (PKD1) P L 3649 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35447 P98161 (PKD1) G S 3651 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35448 P98161 (PKD1) M T 3678 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35449 P98161 (PKD1) L P 3682 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35450 P98161 (PKD1) R Q 3719 rs1555446576 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35451 P98161 (PKD1) R Q 3750 rs1327414405 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35452 P98161 (PKD1) Q R 3751 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35453 P98161 (PKD1) R W 3753 rs1167476946 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35454 P98161 (PKD1) D N 3815 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35455 P98161 (PKD1) L P 3852 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35456 P98161 (PKD1) G D 4032 rs142768096 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35457 P98161 (PKD1) I V 4045 rs10960 Benign
35458 P98161 (PKD1) V A 4058 - Benign
35459 P98161 (PKD1) A V 4059 rs3209986 Benign
35460 P98161 (PKD1) G E 4102 rs1306483854 Benign
35461 P98161 (PKD1) L P 4106 - Benign
35462 P98161 (PKD1) P S 4124 rs1309138642 Benign
35463 P98161 (PKD1) R G 4136 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35464 P98161 (PKD1) V I 4146 rs148478410 Benign
35465 P98161 (PKD1) R C 4150 rs1282668884 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35466 P98161 (PKD1) R C 4154 rs115538130 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35467 P98161 (PKD1) F V 4155 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35468 P98161 (PKD1) S F 4190 rs547854563 Benign
35469 P98161 (PKD1) Q P 4225 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35470 P98161 (PKD1) P S 4255 - Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35471 P98161 (PKD1) R W 4276 rs114251396 Disease: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]
35472 P98164 (LRP2) N S 83 rs2229263 Benign
35473 P98164 (LRP2) G R 259 rs34693334 Benign
35474 P98164 (LRP2) G D 669 rs34291900 Benign
35475 P98164 (LRP2) H R 909 rs36082715 Benign
35476 P98164 (LRP2) H Q 1083 rs2302691 Benign
35477 P98164 (LRP2) D A 1279 rs17848149 Benign
35478 P98164 (LRP2) A P 1287 - Benign
35479 P98164 (LRP2) R K 2012 rs4667596 Benign
35480 P98164 (LRP2) I T 2065 rs2228168 Benign
35481 P98164 (LRP2) Y H 2522 rs80338747 Disease: Donnai- Barrow syndrome (DBS) [MIM:222448]
35482 P98164 (LRP2) N D 2632 rs17848169 Benign
35483 P98164 (LRP2) A T 2872 rs2228171 Benign
35484 P98164 (LRP2) R M 3011 rs11674973 Benign
35485 P98164 (LRP2) R H 3305 rs3213760 Benign
35486 P98164 (LRP2) K E 4094 rs2075252 Benign
35487 P98164 (LRP2) I L 4210 rs4667591 Benign
35488 P98168 (ZXDA) R G 202 rs139564495 Benign
35489 P98168 (ZXDA) G S 376 rs1057327 Benign
35490 P98169 (ZXDB) A T 736 rs1057338 Benign
35491 P98169 (ZXDB) N S 760 rs1057340 Benign
35492 P98169 (ZXDB) D N 764 rs1057341 Benign
35493 P98169 (ZXDB) T R 791 rs1057343 Benign
35494 P98170 (XIAP) N S 107 rs28382721 Benign
35495 P98170 (XIAP) S F 133 rs28382722 Benign
35496 P98170 (XIAP) D E 242 rs28382723 Benign
35497 P98170 (XIAP) Q P 423 rs5956583 Benign
35498 P98171 (ARHGAP4) A V 104 rs5987182 Benign
35499 P98172 (EFNB1) P R 27 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35500 P98172 (EFNB1) P L 54 rs104894801 Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35501 P98172 (EFNB1) I T 62 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35502 P98172 (EFNB1) L S 98 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35503 P98172 (EFNB1) T I 111 rs104894796 Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35504 P98172 (EFNB1) Q P 115 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35505 P98172 (EFNB1) P H 119 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35506 P98172 (EFNB1) P S 119 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35507 P98172 (EFNB1) P T 119 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35508 P98172 (EFNB1) T A 137 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35509 P98172 (EFNB1) S F 138 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35510 P98172 (EFNB1) G S 151 rs28936069 Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35511 P98172 (EFNB1) G V 151 rs28936070 Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35512 P98172 (EFNB1) C S 153 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35513 P98172 (EFNB1) C Y 153 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35514 P98172 (EFNB1) R H 154 rs146636295 Benign
35515 P98172 (EFNB1) T P 155 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35516 P98172 (EFNB1) M I 158 rs28935170 Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35517 P98172 (EFNB1) M V 158 rs28936071 Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35518 P98172 (EFNB1) T M 172 rs7889678 Benign
35519 P98172 (EFNB1) S R 182 - Disease: Craniofronto nasal syndrome (CFNS) [MIM:304110]
35520 P98172 (EFNB1) V A 189 rs16989105 Benign
35521 P98173 (FAM3A) I M 21 rs35985994 Benign
35522 P98173 (FAM3A) W C 213 rs1050788 Benign
35523 P98174 (FGD1) S I 205 - Disease: Aarskog- Scott syndrome (AAS) [MIM:305400]
35524 P98174 (FGD1) P L 312 rs28935498 Benign
35525 P98174 (FGD1) E A 380 - Disease: Aarskog- Scott syndrome (AAS) [MIM:305400]
35526 P98174 (FGD1) R H 443 - Disease: Aarskog- Scott syndrome (AAS) [MIM:305400]
35527 P98174 (FGD1) R H 522 rs137853264 Disease: Aarskog- Scott syndrome (AAS) [MIM:305400]
35528 P98174 (FGD1) R Q 610 rs28935497 Disease: Aarskog- Scott syndrome (AAS) [MIM:305400]
35529 P98182 (ZNF200) T M 140 rs9302870 Benign
35530 P98187 (CYP4F8) Y F 125 rs2072600 Benign
35531 P98187 (CYP4F8) P Q 447 rs2056822 Benign
35532 P98194 (ATP2C1) P L 201 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35533 P98194 (ATP2C1) G E 220 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35534 P98194 (ATP2C1) A T 304 rs137853012 Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35535 P98194 (ATP2C1) G C 309 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35536 P98194 (ATP2C1) G V 309 rs1393570830 Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35537 P98194 (ATP2C1) L P 318 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35538 P98194 (ATP2C1) L P 341 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35539 P98194 (ATP2C1) C Y 344 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35540 P98194 (ATP2C1) C R 411 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35541 P98194 (ATP2C1) A T 450 rs41434650 Benign
35542 P98194 (ATP2C1) C F 490 rs137853014 Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35543 P98194 (ATP2C1) T I 570 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35544 P98194 (ATP2C1) I V 580 rs1282232888 Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35545 P98194 (ATP2C1) L P 584 rs137853015 Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35546 P98194 (ATP2C1) M R 641 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35547 P98194 (ATP2C1) G R 645 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35548 P98194 (ATP2C1) T M 709 rs778865612 Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35549 P98194 (ATP2C1) A D 731 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35550 P98194 (ATP2C1) D Y 742 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35551 P98194 (ATP2C1) P R 744 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35552 P98194 (ATP2C1) G R 789 - Disease: Hailey- Hailey disease (HHD) [MIM:169600]
35553 P98196 (ATP11A) M V 317 rs368865 Benign
35554 P98196 (ATP11A) V I 1091 rs11616795 Benign
35555 P99999 (CYCS) G S 42 rs121918552 Disease: Thrombocytop enia 4 (THC4) [MIM:612004]
35556 P99999 (CYCS) K R 56 rs11548795 Benign
35557 P99999 (CYCS) M L 66 - Benign
35558 Q00005 (PPP2R2B) G V 36 rs11547494 Benign
35559 Q00005 (PPP2R2B) R P 138 - Disease: -
35560 Q00013 (MPP1) E Q 448 rs14092 Benign
35561 Q00056 (HOXA4) T P 70 rs6944345 Benign
35562 Q00056 (HOXA4) L P 140 rs10251056 Benign
35563 Q00056 (HOXA4) L F 178 rs13246088 Benign
35564 Q00056 (HOXA4) T P 251 rs6976847 Benign
35565 Q00056 (HOXA4) P S 317 rs17500757 Benign
35566 Q00059 (TFAM) S T 12 rs1937 Benign
35567 Q00059 (TFAM) P L 178 rs757075712 Disease: Mitochondria l DNA depletion syndrome 15, hepatocerebr al type (MTDPS15) [MIM:617156]
35568 Q00266 (MAT1A) S N 38 - Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35569 Q00266 (MAT1A) A D 55 rs118204002 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35570 Q00266 (MAT1A) Q H 119 rs1143693 Benign
35571 Q00266 (MAT1A) R C 199 rs773267230 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35572 Q00266 (MAT1A) R C 264 rs118204005 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35573 Q00266 (MAT1A) R H 264 rs72558181 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35574 Q00266 (MAT1A) L P 305 rs118204004 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35575 Q00266 (MAT1A) I M 322 rs118204001 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35576 Q00266 (MAT1A) G R 336 rs118204006 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35577 Q00266 (MAT1A) E A 344 - Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35578 Q00266 (MAT1A) R Q 356 rs138742870 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35579 Q00266 (MAT1A) P L 357 rs118204003 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35580 Q00266 (MAT1A) G S 378 rs1170028069 Disease: Methionine adenosyltran sferase deficiency (MATD) [MIM:250850]
35581 Q00325 (SLC25A3) G E 72 rs104894375 Disease: Mitochondria l phosphate carrier deficiency (MPCD) [MIM:610773]
35582 Q00341 (HDLBP) S A 61 rs11891776 Benign
35583 Q00341 (HDLBP) V I 229 rs7572799 Benign
35584 Q00341 (HDLBP) N S 418 rs7578199 Benign
35585 Q00341 (HDLBP) W L 1264 rs12281 Benign
35586 Q00403 (GTF2B) P S 19 rs1804499 Benign
35587 Q00526 (CDK3) I T 124 rs34918446 Benign
35588 Q00526 (CDK3) R H 214 rs34670267 Benign
35589 Q00526 (CDK3) T I 226 rs2069532 Benign
35590 Q00526 (CDK3) M T 264 rs17884251 Benign
35591 Q00532 (CDKL1) L P 67 rs11570814 Benign
35592 Q00532 (CDKL1) Q E 275 rs7161563 Benign
35593 Q00532 (CDKL1) L V 330 rs9323183 Benign
35594 Q00532 (CDKL1) K N 342 rs11570886 Benign
35595 Q00534 (CDK6) D N 110 rs35654944 Benign
35596 Q00534 (CDK6) A T 197 rs606231255 Disease: Microcephaly 12, primary, autosomal recessive (MCPH12) [MIM:616080]
35597 Q00535 (CDK5) E D 225 rs35186917 Benign
35598 Q00537 (CDK17) T I 214 rs764448325 Benign
35599 Q00577 (PURA) A P 89 rs587782999 Disease: Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
35600 Q00577 (PURA) K E 97 rs587782994 Disease: Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
35601 Q00577 (PURA) L P 100 rs587782995 Disease: Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
35602 Q00577 (PURA) M K 157 rs587782998 Disease: Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
35603 Q00577 (PURA) R P 199 rs587783001 Disease: Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
35604 Q00577 (PURA) I F 206 rs786204834 Disease: Mental retardation, autosomal dominant 31 (MRD31) [MIM:616158]
35605 Q00597 (FANCC) S F 26 rs1800361 Benign
35606 Q00597 (FANCC) I T 80 rs4647419 Benign
35607 Q00597 (FANCC) G E 139 rs1800362 Benign
35608 Q00597 (FANCC) L F 190 rs1800364 Benign
35609 Q00597 (FANCC) D V 195 rs1800365 Disease: Fanconi anemia complementat ion group C (FANCC) [MIM:227645]
35610 Q00597 (FANCC) I V 312 rs1800366 Benign
35611 Q00597 (FANCC) V M 449 rs1800367 Benign
35612 Q00597 (FANCC) Q R 465 rs1800368 Benign
35613 Q00597 (FANCC) L R 496 rs121917785 Disease: Fanconi anemia complementat ion group C (FANCC) [MIM:227645]
35614 Q00597 (FANCC) L P 554 rs104886458 Disease: Fanconi anemia complementat ion group C (FANCC) [MIM:227645]
35615 Q00604 (NDP) L R 13 rs104894879 Disease: Norrie disease (ND) [MIM:310600]
35616 Q00604 (NDP) L P 16 - Disease: Norrie disease (ND) [MIM:310600]
35617 Q00604 (NDP) I K 18 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35618 Q00604 (NDP) D E 23 rs5952410 Benign
35619 Q00604 (NDP) R C 38 rs758550101 Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35620 Q00604 (NDP) C R 39 - Disease: Norrie disease (ND) [MIM:310600]
35621 Q00604 (NDP) R K 41 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35622 Q00604 (NDP) H R 42 rs104894874 Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35623 Q00604 (NDP) H Q 43 - Disease: Norrie disease (ND) [MIM:310600]
35624 Q00604 (NDP) H R 43 - Disease: Norrie disease (ND) [MIM:310600]
35625 Q00604 (NDP) Y C 44 rs104894870 Disease: Norrie disease (ND) [MIM:310600]
35626 Q00604 (NDP) V E 45 rs137852221 Disease: Norrie disease (ND) [MIM:310600]
35627 Q00604 (NDP) V M 45 - Disease: Norrie disease (ND) [MIM:310600]
35628 Q00604 (NDP) K N 54 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35629 Q00604 (NDP) C R 55 - Disease: Norrie disease (ND) [MIM:310600]
35630 Q00604 (NDP) K N 58 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35631 Q00604 (NDP) V E 60 rs104894869 Disease: Norrie disease (ND) [MIM:310600]
35632 Q00604 (NDP) L F 61 rs104894880 Disease: Norrie disease (ND) [MIM:310600]
35633 Q00604 (NDP) L I 61 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35634 Q00604 (NDP) L P 61 - Disease: Norrie disease (ND) [MIM:310600]
35635 Q00604 (NDP) A D 63 - Disease: Norrie disease (ND) [MIM:310600]
35636 Q00604 (NDP) C W 65 - Disease: Norrie disease (ND) [MIM:310600]
35637 Q00604 (NDP) C Y 65 rs1369490553 Disease: Norrie disease (ND) [MIM:310600]
35638 Q00604 (NDP) G E 67 rs1460859456 Disease: Norrie disease (ND) [MIM:310600]
35639 Q00604 (NDP) G R 67 - Disease: Norrie disease (ND) [MIM:310600]
35640 Q00604 (NDP) C S 69 rs104894872 Disease: Norrie disease (ND) [MIM:310600]
35641 Q00604 (NDP) R C 74 rs727504031 Disease: Norrie disease (ND) [MIM:310600]
35642 Q00604 (NDP) S C 75 rs104894868 Disease: Norrie disease (ND) [MIM:310600]
35643 Q00604 (NDP) S P 75 - Disease: Norrie disease (ND) [MIM:310600]
35644 Q00604 (NDP) F L 89 rs1057520333 Disease: Norrie disease (ND) [MIM:310600]
35645 Q00604 (NDP) R C 90 rs1057518793 Disease: Norrie disease (ND) [MIM:310600]
35646 Q00604 (NDP) R P 90 rs104894867 Disease: Norrie disease (ND) [MIM:310600]
35647 Q00604 (NDP) S P 92 - Disease: Norrie disease (ND) [MIM:310600]
35648 Q00604 (NDP) C F 95 - Disease: Norrie disease (ND) [MIM:310600]
35649 Q00604 (NDP) C R 95 - Disease: Norrie disease (ND) [MIM:310600]
35650 Q00604 (NDP) C W 96 rs104894877 Disease: Norrie disease (ND) [MIM:310600]
35651 Q00604 (NDP) C Y 96 rs104894871 Disease: Norrie disease (ND) [MIM:310600]
35652 Q00604 (NDP) R P 97 - Disease: Norrie disease (ND) [MIM:310600]
35653 Q00604 (NDP) P L 98 - Disease: Norrie disease (ND) [MIM:310600]
35654 Q00604 (NDP) S F 101 rs104894883 Disease: Norrie disease (ND) [MIM:310600]
35655 Q00604 (NDP) L V 103 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35656 Q00604 (NDP) K N 104 - Disease: Norrie disease (ND) [MIM:310600]
35657 Q00604 (NDP) K Q 104 - Disease: Norrie disease (ND) [MIM:310600]
35658 Q00604 (NDP) A T 105 rs104894875 Disease: Norrie disease (ND) [MIM:310600]
35659 Q00604 (NDP) C G 110 rs104894876 Disease: Norrie disease (ND) [MIM:310600]
35660 Q00604 (NDP) C R 110 - Disease: Norrie disease (ND) [MIM:310600]
35661 Q00604 (NDP) G E 112 - Disease: Norrie disease (ND) [MIM:310600]
35662 Q00604 (NDP) R L 115 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35663 Q00604 (NDP) A D 118 - Disease: Norrie disease (ND) [MIM:310600]
35664 Q00604 (NDP) Y C 120 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35665 Q00604 (NDP) R G 121 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35666 Q00604 (NDP) R L 121 rs137852220 Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35667 Q00604 (NDP) R Q 121 - Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35668 Q00604 (NDP) R W 121 rs104894878 Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35669 Q00604 (NDP) I N 123 - Disease: Norrie disease (ND) [MIM:310600]
35670 Q00604 (NDP) L F 124 rs28933684 Disease: Vitreoretino pathy, exudative 2 (EVR2) [MIM:305390]
35671 Q00604 (NDP) C S 126 - Disease: Norrie disease (ND) [MIM:310600]
35672 Q00604 (NDP) C R 128 - Disease: Norrie disease (ND) [MIM:310600]
35673 Q00610 (CLTC) P L 890 rs1555606635 Disease: Mental retardation, autosomal dominant 56 (MRD56) [MIM:617854]
35674 Q00653 (NFKB2) E K 14 rs45581936 Benign
35675 Q00653 (NFKB2) G R 351 rs45580031 Benign
35676 Q00653 (NFKB2) A G 392 rs11574848 Benign
35677 Q00653 (NFKB2) G R 452 rs45471103 Benign
35678 Q00722 (PLCB2) N I 324 rs45628633 Benign
35679 Q00722 (PLCB2) R H 598 rs8025153 Benign
35680 Q00722 (PLCB2) P L 664 rs9972332 Benign
35681 Q00722 (PLCB2) G R 712 rs28395835 Benign
35682 Q00722 (PLCB2) E G 1095 rs936212 Benign
35683 Q00796 (SORD) Q L 239 rs1042079 Benign
35684 Q00796 (SORD) N T 269 rs930337 Benign
35685 Q00839 (HNRNPU) F L 712 rs1052660 Benign
35686 Q00872 (MYBPC1) E K 161 rs1370563966 Disease: Arthrogrypos is, distal, 1B (DA1B) [MIM:614335]
35687 Q00872 (MYBPC1) W R 211 rs387906657 Disease: Arthrogrypos is, distal, 1B (DA1B) [MIM:614335]
35688 Q00872 (MYBPC1) Y H 222 - Disease: Myopathy, congenital, with tremor (MYOTREM) [MIM:618524]
35689 Q00872 (MYBPC1) E K 223 - Disease: Myopathy, congenital, with tremor (MYOTREM) [MIM:618524]
35690 Q00872 (MYBPC1) L P 234 - Disease: Myopathy, congenital, with tremor (MYOTREM) [MIM:618524]
35691 Q00872 (MYBPC1) L R 238 - Disease: Myopathy, congenital, with tremor (MYOTREM) [MIM:618524]
35692 Q00872 (MYBPC1) H Q 481 rs3817552 Benign
35693 Q00872 (MYBPC1) Y H 849 rs387906658 Disease: Arthrogrypos is, distal, 1B (DA1B) [MIM:614335]
35694 Q00887 (PSG9) L V 18 rs8101191 Benign
35695 Q00887 (PSG9) A T 176 rs1058085 Benign
35696 Q00887 (PSG9) I T 325 rs1135905 Benign
35697 Q00887 (PSG9) Q L 374 rs2074923 Benign
35698 Q00887 (PSG9) H R 397 rs2072285 Benign
35699 Q00888 (PSG4) Q H 11 rs11883278 Benign
35700 Q00888 (PSG4) L V 75 rs3170216 Benign
35701 Q00888 (PSG4) S R 177 rs73548061 Benign
35702 Q00888 (PSG4) S P 240 rs3859474 Benign
35703 Q00888 (PSG4) K E 267 rs1058718 Benign
35704 Q00888 (PSG4) V A 286 rs2355442 Benign
35705 Q00889 (PSG6) H D 85 rs3198831 Benign
35706 Q00889 (PSG6) L F 155 rs1058674 Benign
35707 Q00889 (PSG6) M T 161 rs1058679 Benign
35708 Q00889 (PSG6) R L 165 rs1058680 Benign
35709 Q00889 (PSG6) I T 167 rs1065505 Benign
35710 Q00889 (PSG6) L W 180 rs1065507 Benign
35711 Q00889 (PSG6) L M 181 rs1065508 Benign
35712 Q00889 (PSG6) N S 185 rs1065509 Benign
35713 Q00889 (PSG6) M R 188 rs59587483 Benign
35714 Q00889 (PSG6) R S 191 rs1058688 Benign
35715 Q00889 (PSG6) K E 196 rs1065511 Benign
35716 Q00889 (PSG6) K N 253 rs1065513 Benign
35717 Q00889 (PSG6) L S 257 rs1058710 Benign
35718 Q00889 (PSG6) A T 258 rs1065515 Benign
35719 Q00889 (PSG6) I S 404 rs1065525 Benign
35720 Q008S8 (ECT2L) Q H 483 rs12198781 Benign
35721 Q008S8 (ECT2L) E K 527 rs1529151 Benign
35722 Q008S8 (ECT2L) A T 594 rs11968285 Benign
35723 Q00973 (B4GALNT1) L V 35 rs774896 Benign
35724 Q00973 (B4GALNT1) G R 172 rs810205 Benign
35725 Q00973 (B4GALNT1) R C 300 rs756710480 Disease: Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]
35726 Q00973 (B4GALNT1) D A 433 rs879255242 Disease: Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]
35727 Q00973 (B4GALNT1) A V 516 rs17454674 Benign
35728 Q00975 (CACNA1B) N K 167 rs4422842 Benign
35729 Q00975 (CACNA1B) A S 862 rs7873074 Benign
35730 Q00975 (CACNA1B) T A 996 rs11137342 Benign
35731 Q00975 (CACNA1B) E K 1436 rs1322525317 Benign
35732 Q00975 (CACNA1B) E K 1500 rs12377346 Benign
35733 Q00978 (IRF9) Q H 127 rs145480303 Benign
35734 Q00978 (IRF9) R C 292 rs1452927917 Benign
35735 Q00G26 (PLIN5) A V 6 rs10407239 Benign
35736 Q00G26 (PLIN5) C R 255 rs1610090 Benign
35737 Q00G26 (PLIN5) R W 306 rs1062223 Benign
35738 Q00LT1 (PRCD) C Y 2 rs121918369 Disease: Retinitis pigmentosa 36 (RP36) [MIM:610599]
35739 Q00LT1 (PRCD) R C 17 rs375181336 Benign
35740 Q00LT1 (PRCD) P T 25 - Disease: Retinitis pigmentosa 36 (RP36) [MIM:610599]
35741 Q01081 (U2AF1) S F 34 rs371769427 Disease: Myelodysplas tic syndrome (MDS) [MIM:614286]
35742 Q01081 (U2AF1) S Y 34 rs371769427 Disease: Myelodysplas tic syndrome (MDS) [MIM:614286]
35743 Q01081 (U2AF1) Q R 157 rs371246226 Disease: Myelodysplas tic syndrome (MDS) [MIM:614286]
35744 Q01082 (SPTBN1) D H 1411 rs1052790 Benign
35745 Q01094 (E2F1) G S 200 rs35385772 Benign
35746 Q01094 (E2F1) R H 252 rs3213172 Benign
35747 Q01094 (E2F1) V M 276 rs3213173 Benign
35748 Q01094 (E2F1) T N 311 rs3213174 Benign
35749 Q01094 (E2F1) G S 393 rs3213176 Benign
35750 Q01105 (SET) W G 95 rs1554776500 Disease: Mental retardation, autosomal dominant 58 (MRD58) [MIM:618106]
35751 Q01105 (SET) H Y 118 - Disease: Mental retardation, autosomal dominant 58 (MRD58) [MIM:618106]
35752 Q01113 (IL9R) R K 63 rs3093495 Benign
35753 Q01113 (IL9R) E Q 239 rs6522 Benign
35754 Q01113 (IL9R) Y C 288 rs149119910 Benign
35755 Q01113 (IL9R) G R 331 rs2230001 Benign
35756 Q01113 (IL9R) R H 365 rs2228650 Benign
35757 Q01118 (SCN7A) T N 41 rs7565062 Benign
35758 Q01118 (SCN7A) I V 407 rs11888208 Benign
35759 Q01118 (SCN7A) M L 600 rs34183637 Benign
35760 Q01118 (SCN7A) M I 958 rs6738031 Benign
35761 Q01118 (SCN7A) A V 1313 rs6760593 Benign
35762 Q01118 (SCN7A) R K 1516 rs34799257 Benign
35763 Q01118 (SCN7A) V L 1596 rs3791251 Benign
35764 Q01118 (SCN7A) D G 1657 rs35344714 Benign
35765 Q01151 (CD83) R Q 182 rs2230193 Benign
35766 Q01196 (RUNX1) R Q 139 rs1060499616 Disease: Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]
35767 Q01196 (RUNX1) R Q 174 rs74315450 Disease: Familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]
35768 Q01196 (RUNX1) S R 431 rs1055308 Benign
35769 Q01196 (RUNX1) S R 433 rs1055309 Benign
35770 Q01201 (RELB) T M 396 rs2230682 Benign
35771 Q01344 (IL5RA) I V 129 rs2290610 Benign
35772 Q01344 (IL5RA) V A 262 rs17879690 Benign
35773 Q01362 (MS4A2) T M 143 rs35033981 Benign
35774 Q01362 (MS4A2) N K 211 rs535630 Benign
35775 Q01362 (MS4A2) E G 237 rs569108 Benign
35776 Q01415 (GALK2) I V 182 rs35507772 Benign
35777 Q01432 (AMPD3) R W 185 rs11042836 Benign
35778 Q01432 (AMPD3) N K 310 - Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35779 Q01432 (AMPD3) V L 311 rs117706710 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35780 Q01432 (AMPD3) A V 320 rs147542803 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35781 Q01432 (AMPD3) M T 324 rs750004231 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35782 Q01432 (AMPD3) R C 331 rs758038726 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35783 Q01432 (AMPD3) R C 402 rs766280048 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35784 Q01432 (AMPD3) W R 450 rs1273151844 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35785 Q01432 (AMPD3) Y H 455 rs36003153 Benign
35786 Q01432 (AMPD3) R C 573 rs3741040 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35787 Q01432 (AMPD3) P L 585 rs748852415 Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35788 Q01432 (AMPD3) Q P 712 - Disease: Adenosine monophosphat e deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
35789 Q01433 (AMPD2) I V 522 rs201254826 Benign
35790 Q01433 (AMPD2) R H 674 rs587777395 Disease: Pontocerebel lar hypoplasia 9 (PCH9) [MIM:615809]
35791 Q01433 (AMPD2) E D 778 rs587777392 Disease: Pontocerebel lar hypoplasia 9 (PCH9) [MIM:615809]
35792 Q01433 (AMPD2) D Y 793 rs587777394 Disease: Pontocerebel lar hypoplasia 9 (PCH9) [MIM:615809]
35793 Q01453 (PMP22) H Q 12 rs104894622 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35794 Q01453 (PMP22) L P 16 rs104894617 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35795 Q01453 (PMP22) L P 19 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35796 Q01453 (PMP22) S F 22 rs104894625 Disease: Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
35797 Q01453 (PMP22) T R 23 rs906563423 Disease: Charcot- Marie-Tooth disease 1E (CMT1E) [MIM:118300]
35798 Q01453 (PMP22) W R 28 rs104894626 Disease: Charcot- Marie-Tooth disease 1E (CMT1E) [MIM:118300]
35799 Q01453 (PMP22) V M 30 rs377335295 Disease: Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
35800 Q01453 (PMP22) D V 37 rs104894627 Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35801 Q01453 (PMP22) V F 65 - Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35802 Q01453 (PMP22) A P 67 rs104894623 Disease: Charcot- Marie-Tooth disease 1E (CMT1E) [MIM:118300]
35803 Q01453 (PMP22) A T 67 rs104894623 Disease: Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]
35804 Q01453 (PMP22) M K 69 rs104894620 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35805 Q01453 (PMP22) L P 71 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35806 Q01453 (PMP22) S L 72 rs104894621 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35807 Q01453 (PMP22) S P 72 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35808 Q01453 (PMP22) S W 72 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35809 Q01453 (PMP22) S I 76 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35810 Q01453 (PMP22) S C 79 rs104894618 Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35811 Q01453 (PMP22) S P 79 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35812 Q01453 (PMP22) L P 80 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35813 Q01453 (PMP22) L R 80 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35814 Q01453 (PMP22) G R 93 rs778693173 Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35815 Q01453 (PMP22) G E 100 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35816 Q01453 (PMP22) G R 100 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35817 Q01453 (PMP22) L R 105 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35818 Q01453 (PMP22) G V 107 - Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35819 Q01453 (PMP22) C R 109 - Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35820 Q01453 (PMP22) T M 118 rs104894619 Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35821 Q01453 (PMP22) I V 137 rs755551524 Benign
35822 Q01453 (PMP22) L R 147 - Disease: Charcot- Marie-Tooth disease 1A (CMT1A) [MIM:118220]
35823 Q01453 (PMP22) S R 149 rs775019409 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35824 Q01453 (PMP22) G C 150 rs104894624 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35825 Q01453 (PMP22) G D 150 rs879253954 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35826 Q01453 (PMP22) R G 157 rs28936682 Benign
35827 Q01453 (PMP22) R W 157 rs28936682 Disease: Dejerine- Sottas syndrome (DSS) [MIM:145900]
35828 Q01459 (CTBS) V I 274 rs15911 Benign
35829 Q01459 (CTBS) D Y 310 rs3768249 Benign
35830 Q01484 (ANK2) N S 687 rs29372 Benign
35831 Q01484 (ANK2) V D 1555 - Benign
35832 Q01484 (ANK2) V A 2369 rs28377576 Benign
35833 Q01484 (ANK2) L I 3740 rs35530544 Disease: Long QT syndrome 4 (LQT4) [MIM:600919]
35834 Q01484 (ANK2) T N 3744 rs121912705 Disease: Long QT syndrome 4 (LQT4) [MIM:600919]
35835 Q01484 (ANK2) R W 3906 rs121912706 Disease: Long QT syndrome 4 (LQT4) [MIM:600919]
35836 Q01484 (ANK2) E K 3931 rs45454496 Disease: Long QT syndrome 4 (LQT4) [MIM:600919]
35837 Q01518 (CAP1) C G 229 rs11207440 Benign
35838 Q01518 (CAP1) C G 236 rs6665926 Benign
35839 Q01518 (CAP1) I S 245 rs6665933 Benign
35840 Q01518 (CAP1) C G 247 rs6665936 Benign
35841 Q01518 (CAP1) Y D 249 rs6665937 Benign
35842 Q01518 (CAP1) S A 256 rs6665944 Benign
35843 Q01523 (DEFA5) R H 71 rs7839771 Benign
35844 Q01534 (TSPY1) P R 195 - Benign
35845 Q01534 (TSPY1) I F 216 - Benign
35846 Q01543 (FLI1) R W 324 rs773148506 Disease: Bleeding disorder, platelet- type 21 (BDPLT21) [MIM:617443]
35847 Q01543 (FLI1) R Q 337 rs1064797086 Disease: Bleeding disorder, platelet- type 21 (BDPLT21) [MIM:617443]
35848 Q01543 (FLI1) R W 337 rs1064797083 Disease: Bleeding disorder, platelet- type 21 (BDPLT21) [MIM:617443]
35849 Q01543 (FLI1) Y C 343 rs1064797084 Disease: Bleeding disorder, platelet- type 21 (BDPLT21) [MIM:617443]
35850 Q01543 (FLI1) K E 345 rs1064797087 Disease: Bleeding disorder, platelet- type 21 (BDPLT21) [MIM:617443]
35851 Q01546 (KRT76) A T 283 rs11170271 Benign
35852 Q01546 (KRT76) A T 359 rs6580904 Benign
35853 Q01546 (KRT76) T M 629 rs2280480 Benign
35854 Q01628 (IFITM3) H Q 3 rs1136853 Benign
35855 Q01629 (IFITM2) V A 33 rs1058900 Benign
35856 Q01629 (IFITM2) M T 41 rs14408 Benign
35857 Q01629 (IFITM2) I V 121 rs1059091 Benign
35858 Q01638 (IL1RL1) A E 78 rs1041973 Benign
35859 Q01638 (IL1RL1) A T 433 rs4988956 Benign
35860 Q01638 (IL1RL1) Q K 501 rs10192036 Benign
35861 Q01638 (IL1RL1) Q R 501 rs10204137 Benign
35862 Q01638 (IL1RL1) T I 549 rs10192157 Benign
35863 Q01638 (IL1RL1) L S 551 rs10206753 Benign
35864 Q01650 (SLC7A5) D V 223 rs17853937 Benign
35865 Q01650 (SLC7A5) N K 230 rs1060250 Benign
35866 Q01658 (DR1) E D 171 rs3088371 Benign
35867 Q01664 (TFAP4) Q H 218 rs251732 Benign
35868 Q01668 (CACNA1D) V L 401 - Disease: -
35869 Q01668 (CACNA1D) G D 403 - Disease: Primary aldosteronis m, seizures, and neurologic abnormalitie s (PASNA) [MIM:615474]
35870 Q01668 (CACNA1D) G R 407 rs1163276899 Disease: -
35871 Q01668 (CACNA1D) A G 749 - Disease: -
35872 Q01668 (CACNA1D) I M 750 rs41276445 Disease: Primary aldosteronis m, seizures, and neurologic abnormalitie s (PASNA) [MIM:615474]
35873 Q01668 (CACNA1D) D N 2097 rs41276455 Benign
35874 Q01718 (MC2R) P R 27 rs28926178 Benign
35875 Q01718 (MC2R) S I 74 rs104894658 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35876 Q01718 (MC2R) D N 103 rs768093045 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35877 Q01718 (MC2R) D N 107 rs104894661 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35878 Q01718 (MC2R) S R 120 rs104894656 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35879 Q01718 (MC2R) R C 128 rs104894657 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35880 Q01718 (MC2R) R W 137 rs104894660 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35881 Q01718 (MC2R) R H 146 rs758709668 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35882 Q01718 (MC2R) C F 251 rs104894662 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35883 Q01718 (MC2R) Y C 254 rs28940892 Disease: Glucocortico id deficiency 1 (GCCD1) [MIM:202200]
35884 Q01718 (MC2R) F C 278 rs28926182 Benign
35885 Q01726 (MC1R) V M 38 rs200050206 Disease: Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
35886 Q01726 (MC1R) I T 40 rs748138541 Benign
35887 Q01726 (MC1R) S F 41 - Disease: Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
35888 Q01726 (MC1R) V A 51 rs766080391 Disease: Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
35889 Q01726 (MC1R) V L 60 rs1805005 Benign
35890 Q01726 (MC1R) R Q 67 rs34090186 Benign
35891 Q01726 (MC1R) D E 84 rs1805006 Benign
35892 Q01726 (MC1R) G R 89 rs34540312 Benign
35893 Q01726 (MC1R) V M 92 rs2228479 Benign
35894 Q01726 (MC1R) T M 95 rs34158934 Benign
35895 Q01726 (MC1R) G S 104 rs2229617 Benign
35896 Q01726 (MC1R) I T 120 rs33932559 Benign
35897 Q01726 (MC1R) V M 122 rs201192930 Benign
35898 Q01726 (MC1R) M T 128 rs374235260 Disease: Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
35899 Q01726 (MC1R) R H 142 rs11547464 Benign
35900 Q01726 (MC1R) R C 151 rs1805007 Benign
35901 Q01726 (MC1R) I T 155 rs1110400 Benign
35902 Q01726 (MC1R) V L 156 rs3212365 Benign
35903 Q01726 (MC1R) T I 157 rs104894524 Benign
35904 Q01726 (MC1R) P T 159 rs104894523 Benign
35905 Q01726 (MC1R) R W 160 rs1805008 Benign
35906 Q01726 (MC1R) R P 162 - Benign
35907 Q01726 (MC1R) R Q 163 rs885479 Benign
35908 Q01726 (MC1R) A G 166 rs35040147 Benign
35909 Q01726 (MC1R) A S 171 rs35784916 Benign
35910 Q01726 (MC1R) F L 196 rs3212366 Benign
35911 Q01726 (MC1R) N S 281 rs141177570 Benign
35912 Q01726 (MC1R) C R 289 rs369542041 Disease: Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]
35913 Q01726 (MC1R) D H 294 rs1805009 Benign
35914 Q01740 (FMO1) H Q 97 rs56841822 Benign
35915 Q01740 (FMO1) R Q 223 rs16864310 Benign
35916 Q01740 (FMO1) S T 227 - Benign
35917 Q01740 (FMO1) I T 303 rs28360418 Benign
35918 Q01740 (FMO1) I V 303 rs16864314 Benign
35919 Q01740 (FMO1) I V 322 rs28360419 Benign
35920 Q01740 (FMO1) F L 327 rs28360420 Benign
35921 Q01740 (FMO1) K R 373 rs28360421 Benign
35922 Q01740 (FMO1) R H 474 rs28360433 Benign
35923 Q01804 (OTUD4) A G 194 rs36225458 Benign
35924 Q01804 (OTUD4) A T 216 rs36225838 Benign
35925 Q01804 (OTUD4) G V 398 rs148857745 Benign
35926 Q01831 (XPC) L V 16 rs1870134 Benign
35927 Q01831 (XPC) L F 48 rs2229089 Benign
35928 Q01831 (XPC) K R 86 rs3731063 Benign
35929 Q01831 (XPC) F C 287 rs35629274 Benign
35930 Q01831 (XPC) R Q 314 rs3731126 Benign
35931 Q01831 (XPC) P H 334 rs74737358 Disease: Xeroderma pigmentosum complementat ion group C (XP-C) [MIM:278720]
35932 Q01831 (XPC) R H 492 rs2227999 Benign
35933 Q01831 (XPC) A V 499 rs2228000 Benign
35934 Q01831 (XPC) K Q 511 rs6413541 Benign
35935 Q01831 (XPC) M I 513 rs3731130 Benign
35936 Q01831 (XPC) C S 514 rs3731130 Benign
35937 Q01831 (XPC) Q E 632 rs3731139 Benign
35938 Q01831 (XPC) R H 671 rs3731140 Benign
35939 Q01831 (XPC) T M 689 rs3731152 Benign
35940 Q01831 (XPC) W S 690 - Disease: Xeroderma pigmentosum complementat ion group C (XP-C) [MIM:278720]
35941 Q01831 (XPC) K Q 928 rs3731177 Benign
35942 Q01831 (XPC) Q K 939 rs2228001 Benign
35943 Q01860 (POU5F1) L F 226 rs1150767 Benign
35944 Q01860 (POU5F1) T A 322 - Benign
35945 Q01860 (POU5F1) T I 351 rs1061120 Benign
35946 Q01860 (POU5F1) M L 357 - Benign
35947 Q01892 (SPIB) A P 104 rs11546996 Benign
35948 Q01955 (COL4A3) G R 43 rs13424243 Benign
35949 Q01955 (COL4A3) L P 141 rs10178458 Benign
35950 Q01955 (COL4A3) E G 162 rs6436669 Benign
35951 Q01955 (COL4A3) G E 297 - Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35952 Q01955 (COL4A3) D Y 326 rs55703767 Benign
35953 Q01955 (COL4A3) G R 407 - Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35954 Q01955 (COL4A3) R H 408 rs34505188 Benign
35955 Q01955 (COL4A3) H R 451 rs11677877 Benign
35956 Q01955 (COL4A3) G D 532 rs371405814 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35957 Q01955 (COL4A3) P L 574 rs28381984 Benign
35958 Q01955 (COL4A3) G R 640 rs200672668 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35959 Q01955 (COL4A3) G R 739 rs375040636 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35960 Q01955 (COL4A3) K R 834 rs56226424 Benign
35961 Q01955 (COL4A3) G R 853 rs763726708 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35962 Q01955 (COL4A3) G V 985 rs121912827 Disease: Hematuria, benign familial (BFH) [MIM:141200]
35963 Q01955 (COL4A3) G E 1015 rs121912826 Disease: Hematuria, benign familial (BFH) [MIM:141200]
35964 Q01955 (COL4A3) G R 1167 rs267606745 Disease: Alport syndrome 3, autosomal dominant (ATS3) [MIM:104200]
35965 Q01955 (COL4A3) G E 1207 - Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35966 Q01955 (COL4A3) G R 1216 - Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35967 Q01955 (COL4A3) D E 1269 rs57611801 Benign
35968 Q01955 (COL4A3) G S 1277 rs190598500 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35969 Q01955 (COL4A3) G E 1334 rs375290088 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
35970 Q01955 (COL4A3) L P 1474 rs200302125 Benign
35971 Q01955 (COL4A3) Q R 1495 rs77964815 Benign
35972 Q01959 (SLC6A3) R Q 237 rs6345 Benign
35973 Q01959 (SLC6A3) L Q 368 rs267607068 Disease: Parkinsonism -dystonia infantile (PKDYS) [MIM:613135]
35974 Q01959 (SLC6A3) P L 395 rs267607069 Disease: Parkinsonism -dystonia infantile (PKDYS) [MIM:613135]
35975 Q01959 (SLC6A3) V I 471 rs75916702 Benign
35976 Q01968 (OCRL) F S 242 rs137853828 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35977 Q01968 (OCRL) I T 274 rs137853829 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35978 Q01968 (OCRL) Q R 277 rs137853830 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35979 Q01968 (OCRL) R C 318 rs137853263 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35980 Q01968 (OCRL) R C 337 rs137853831 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35981 Q01968 (OCRL) R P 337 - Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35982 Q01968 (OCRL) N H 354 rs137853833 Disease: Dent disease 2 (DD2) [MIM:300555]
35983 Q01968 (OCRL) R I 361 rs137853832 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35984 Q01968 (OCRL) V G 372 rs137853834 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35985 Q01968 (OCRL) N Y 373 rs137853835 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35986 Q01968 (OCRL) S F 374 rs137853836 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35987 Q01968 (OCRL) H Y 375 rs137853848 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35988 Q01968 (OCRL) H R 414 rs137853837 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35989 Q01968 (OCRL) G E 421 rs137853855 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35990 Q01968 (OCRL) N D 424 rs137853856 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35991 Q01968 (OCRL) D G 451 rs137853850 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35992 Q01968 (OCRL) D N 451 rs137853838 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35993 Q01968 (OCRL) R G 457 rs137853839 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35994 Q01968 (OCRL) F S 463 rs137853851 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35995 Q01968 (OCRL) E G 468 rs137853841 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35996 Q01968 (OCRL) E K 468 rs137853840 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
35997 Q01968 (OCRL) Y C 479 rs137853262 Disease: Dent disease 2 (DD2) [MIM:300555]
35998 Q01968 (OCRL) R W 493 rs137853846 Disease: Dent disease 2 (DD2) [MIM:300555]
35999 Q01968 (OCRL) P L 495 - Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36000 Q01968 (OCRL) C Y 498 rs137853857 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36001 Q01968 (OCRL) D H 499 rs137853842 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36002 Q01968 (OCRL) R G 500 rs398123287 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36003 Q01968 (OCRL) R Q 500 rs137853260 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36004 Q01968 (OCRL) W R 503 rs137853843 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36005 Q01968 (OCRL) V D 508 rs137853849 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36006 Q01968 (OCRL) Y C 513 rs137853847 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36007 Q01968 (OCRL) S R 522 rs137853853 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36008 Q01968 (OCRL) H Q 524 rs137853261 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36009 Q01968 (OCRL) H R 524 rs137853852 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36010 Q01968 (OCRL) P L 526 rs137853858 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36011 Q01968 (OCRL) I S 533 - Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36012 Q01968 (OCRL) N K 591 rs137853844 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36013 Q01968 (OCRL) P L 799 - Disease: Dent disease 2 (DD2) [MIM:300555]
36014 Q01968 (OCRL) P L 801 - Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36015 Q01968 (OCRL) L R 891 rs137853845 Disease: Lowe oculocerebro renal syndrome (OCRL) [MIM:309000]
36016 Q01970 (PLCB3) R H 483 rs12146487 Benign
36017 Q01973 (ROR1) T M 518 rs7527017 Benign
36018 Q01973 (ROR1) G R 624 rs55832740 Benign
36019 Q01973 (ROR1) Y C 646 rs34109134 Benign
36020 Q01973 (ROR1) R T 736 rs1553163562 Disease: Deafness, autosomal recessive, 108 (DFNB108) [MIM:617654]
36021 Q01974 (ROR2) C Y 182 - Disease: Robinow syndrome autosomal recessive (RRS) [MIM:268310]
36022 Q01974 (ROR2) R C 184 rs121909084 Disease: Robinow syndrome autosomal recessive (RRS) [MIM:268310]
36023 Q01974 (ROR2) R W 189 rs199975149 Disease: Robinow syndrome autosomal recessive (RRS) [MIM:268310]
36024 Q01974 (ROR2) R Q 244 rs55737262 Benign
36025 Q01974 (ROR2) T A 245 rs10820900 Benign
36026 Q01974 (ROR2) H D 349 rs55983376 Benign
36027 Q01974 (ROR2) R W 366 - Disease: Robinow syndrome autosomal recessive (RRS) [MIM:268310]
36028 Q01974 (ROR2) G A 490 rs56197744 Benign
36029 Q01974 (ROR2) R Q 530 rs35852786 Benign
36030 Q01974 (ROR2) P S 548 rs35764413 Benign
36031 Q01974 (ROR2) S L 557 rs56099091 Benign
36032 Q01974 (ROR2) N K 620 - Disease: Robinow syndrome autosomal recessive (RRS) [MIM:268310]
36033 Q01974 (ROR2) D N 644 rs55798732 Benign
36034 Q01974 (ROR2) D N 672 rs55651110 Benign
36035 Q01974 (ROR2) G R 695 rs34431454 Benign
36036 Q01974 (ROR2) R C 738 rs56231927 Benign
36037 Q01974 (ROR2) S L 762 rs34491822 Benign
36038 Q01974 (ROR2) V I 819 rs10761129 Benign
36039 Q01974 (ROR2) D E 935 rs41277835 Benign
36040 Q01995 (TAGLN) N S 182 rs12284316 Benign
36041 Q02040 (AKAP17A) P S 194 rs17852504 Benign
36042 Q02045 (MYL5) F S 88 rs2228354 Benign
36043 Q02078 (MEF2A) N S 263 rs121918530 Benign
36044 Q02078 (MEF2A) P L 279 rs121918529 Benign
36045 Q02078 (MEF2A) G D 283 - Benign
36046 Q02083 (NAAA) N K 107 rs34751328 Benign
36047 Q02083 (NAAA) V I 151 rs4859571 Benign
36048 Q02083 (NAAA) F L 334 rs6823734 Benign
36049 Q02094 (RHAG) I R 61 rs863225469 Disease: Overhydrated hereditary stomatocytos is (OHST) [MIM:185000]
36050 Q02094 (RHAG) F S 65 rs863225468 Disease: Overhydrated hereditary stomatocytos is (OHST) [MIM:185000]
36051 Q02094 (RHAG) S N 79 rs121918586 Disease: Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
36052 Q02094 (RHAG) Q E 106 rs1180686517 Benign
36053 Q02094 (RHAG) K Q 164 rs144305805 Benign
36054 Q02094 (RHAG) S L 227 rs902283342 Benign
36055 Q02094 (RHAG) N D 242 rs1058063 Benign
36056 Q02094 (RHAG) V I 270 rs16879498 Benign
36057 Q02094 (RHAG) G E 279 rs121918587 Disease: Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
36058 Q02094 (RHAG) G R 280 rs104893987 Disease: Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
36059 Q02094 (RHAG) G V 380 rs121918589 Disease: Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
36060 Q02108 (GUCY1A1) V I 25 rs2170646 Benign
36061 Q02127 (DHODH) K Q 7 rs3213422 Benign
36062 Q02127 (DHODH) G E 19 rs267606765 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36063 Q02127 (DHODH) R C 135 rs201230446 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36064 Q02127 (DHODH) G R 152 rs267606766 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36065 Q02127 (DHODH) R C 199 rs267606769 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36066 Q02127 (DHODH) G A 202 rs267606767 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36067 Q02127 (DHODH) G D 202 rs267606767 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36068 Q02127 (DHODH) R W 244 rs267606768 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36069 Q02127 (DHODH) T I 284 - Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36070 Q02127 (DHODH) R W 346 rs201947120 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36071 Q02127 (DHODH) D G 392 rs779076692 Disease: Postaxial acrofacial dysostosis (POADS) [MIM:263750]
36072 Q02156 (PRKCE) A V 333 rs55989965 Benign
36073 Q02156 (PRKCE) P R 389 rs55767130 Benign
36074 Q02156 (PRKCE) T M 563 rs34077350 Benign
36075 Q02156 (PRKCE) A T 654 rs35777875 Benign
36076 Q02161 (RHD) W C 16 rs772865539 Benign
36077 Q02161 (RHD) L P 110 rs121912762 Benign
36078 Q02161 (RHD) E K 193 rs1053352 Benign
36079 Q02161 (RHD) T R 201 rs1053355 Benign
36080 Q02161 (RHD) M I 218 rs141540728 Benign
36081 Q02161 (RHD) F V 223 rs1053356 Benign
36082 Q02161 (RHD) E Q 233 rs1053359 Benign
36083 Q02161 (RHD) V M 238 rs1053360 Benign
36084 Q02161 (RHD) V L 245 rs150073306 Benign
36085 Q02161 (RHD) G R 263 rs3118454 Benign
36086 Q02161 (RHD) V I 306 rs590813 Benign
36087 Q02161 (RHD) Y C 311 rs590787 Benign
36088 Q02218 (OGDH) V I 1018 rs2070607 Benign
36089 Q02223 (TNFRSF17) A V 54 rs11570146 Benign
36090 Q02223 (TNFRSF17) I V 65 rs11570147 Benign
36091 Q02223 (TNFRSF17) F V 75 rs11570148 Benign
36092 Q02223 (TNFRSF17) N S 81 rs373496 Benign
36093 Q02223 (TNFRSF17) A T 153 rs150352299 Benign
36094 Q02223 (TNFRSF17) C S 165 rs11570159 Benign
36095 Q02223 (TNFRSF17) E D 176 rs34546237 Benign
36096 Q02224 (CENPE) D N 933 rs144716013 Disease: Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051]
36097 Q02224 (CENPE) K E 1355 rs141488085 Disease: Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051]
36098 Q02224 (CENPE) F L 1535 rs2615542 Benign
36099 Q02224 (CENPE) S R 1581 rs35100664 Benign
36100 Q02224 (CENPE) S T 1911 rs1381657 Benign
36101 Q02224 (CENPE) E D 1925 rs2306106 Benign
36102 Q02224 (CENPE) T M 2090 rs2243682 Benign
36103 Q02241 (KIF23) F L 515 rs17310879 Benign
36104 Q02246 (CNTN2) A T 145 rs2275697 Benign
36105 Q02246 (CNTN2) P L 366 rs2229866 Benign
36106 Q02246 (CNTN2) R W 657 rs2305276 Benign
36107 Q02246 (CNTN2) V I 1024 rs17416074 Benign
36108 Q02252 (ALDH6A1) G R 446 rs72552258 Disease: Methylmalona te semialdehyde dehydrogenas e deficiency (MMSDHD) [MIM:614105]
36109 Q02297 (NRG1) R Q 38 rs3924999 Benign
36110 Q02297 (NRG1) M T 289 rs10503929 Benign
36111 Q02297 (NRG1) M K 463 - Benign
36112 Q02318 (CYP27A1) G E 145 rs72551313 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36113 Q02318 (CYP27A1) A V 169 rs59443548 Benign
36114 Q02318 (CYP27A1) T M 175 rs2229381 Benign
36115 Q02318 (CYP27A1) R C 395 rs121908096 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36116 Q02318 (CYP27A1) R S 395 rs121908096 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36117 Q02318 (CYP27A1) R Q 405 rs121908099 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36118 Q02318 (CYP27A1) R Q 474 rs121908097 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36119 Q02318 (CYP27A1) R W 474 rs121908098 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36120 Q02318 (CYP27A1) R C 479 rs72551322 Disease: Cerebrotendi nous xanthomatosi s (CTX) [MIM:213700]
36121 Q02383 (SEMG2) Q K 43 rs2233896 Benign
36122 Q02383 (SEMG2) T A 57 rs2233897 Benign
36123 Q02383 (SEMG2) S N 274 rs2233901 Benign
36124 Q02383 (SEMG2) H Y 279 rs2233903 Benign
36125 Q02383 (SEMG2) G R 368 rs2071650 Benign
36126 Q02386 (ZNF45) A T 187 rs1047452 Benign
36127 Q02386 (ZNF45) R K 255 rs399098 Benign
36128 Q02386 (ZNF45) T A 299 rs388706 Benign
36129 Q02386 (ZNF45) P R 303 rs388685 Benign
36130 Q02386 (ZNF45) R K 504 rs407731 Benign
36131 Q02388 (COL7A1) P L 595 rs2228561 Benign
36132 Q02388 (COL7A1) R K 1120 rs2228563 Benign
36133 Q02388 (COL7A1) P L 1277 rs35761247 Benign
36134 Q02388 (COL7A1) G R 1347 rs121912833 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36135 Q02388 (COL7A1) G D 1519 rs121912835 Disease: Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
36136 Q02388 (COL7A1) G E 1522 rs387906605 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36137 Q02388 (COL7A1) G R 1557 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36138 Q02388 (COL7A1) G R 1595 rs121912840 Disease: Nail disorder, non- syndromic congenital, 8 (NDNC8) [MIM:607523]
36139 Q02388 (COL7A1) G R 1604 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36140 Q02388 (COL7A1) G R 1652 rs1439299333 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36141 Q02388 (COL7A1) G E 1703 rs770304825 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36142 Q02388 (COL7A1) R W 1772 rs1032335328 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36143 Q02388 (COL7A1) G R 1776 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36144 Q02388 (COL7A1) G R 1782 rs374718902 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36145 Q02388 (COL7A1) G E 1791 - Disease: Epidermolysi s bullosa pruriginosa (EBP) [MIM:604129]
36146 Q02388 (COL7A1) G R 1812 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36147 Q02388 (COL7A1) G R 1815 rs121912841 Disease: Nail disorder, non- syndromic congenital, 8 (NDNC8) [MIM:607523]
36148 Q02388 (COL7A1) G R 1845 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36149 Q02388 (COL7A1) K R 1981 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36150 Q02388 (COL7A1) G W 1982 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36151 Q02388 (COL7A1) G R 2003 rs121912832 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36152 Q02388 (COL7A1) G A 2006 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36153 Q02388 (COL7A1) G D 2006 rs121912842 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36154 Q02388 (COL7A1) R C 2008 rs1055680335 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36155 Q02388 (COL7A1) R G 2008 rs1055680335 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36156 Q02388 (COL7A1) G R 2009 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36157 Q02388 (COL7A1) G E 2015 rs121912843 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36158 Q02388 (COL7A1) G A 2025 rs766931219 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36159 Q02388 (COL7A1) G A 2028 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36160 Q02388 (COL7A1) G R 2028 rs762162799 Disease: Epidermolysi s bullosa pruriginosa (EBP) [MIM:604129]
36161 Q02388 (COL7A1) G S 2031 rs121912838 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36162 Q02388 (COL7A1) G R 2034 rs121912844 Disease: Epidermolysi s bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]
36163 Q02388 (COL7A1) G W 2034 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36164 Q02388 (COL7A1) G E 2037 rs121912846 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36165 Q02388 (COL7A1) G D 2040 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36166 Q02388 (COL7A1) G S 2040 rs121912829 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36167 Q02388 (COL7A1) G V 2040 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36168 Q02388 (COL7A1) G R 2043 rs121912836 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36169 Q02388 (COL7A1) G W 2043 rs121912836 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36170 Q02388 (COL7A1) G V 2046 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36171 Q02388 (COL7A1) G E 2049 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36172 Q02388 (COL7A1) G E 2055 rs1553854678 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36173 Q02388 (COL7A1) R W 2063 rs121912849 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36174 Q02388 (COL7A1) G R 2064 rs866061439 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36175 Q02388 (COL7A1) R C 2069 rs121912855 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36176 Q02388 (COL7A1) G R 2070 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36177 Q02388 (COL7A1) G D 2073 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36178 Q02388 (COL7A1) G D 2076 rs121912850 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36179 Q02388 (COL7A1) G E 2079 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36180 Q02388 (COL7A1) G R 2079 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36181 Q02388 (COL7A1) G D 2132 rs755669902 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36182 Q02388 (COL7A1) G S 2192 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36183 Q02388 (COL7A1) G R 2207 - Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36184 Q02388 (COL7A1) G A 2221 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36185 Q02388 (COL7A1) G R 2242 rs121912837 Disease: Epidermolysi s bullosa pruriginosa (EBP) [MIM:604129]
36186 Q02388 (COL7A1) G E 2251 rs121912834 Disease: Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
36187 Q02388 (COL7A1) G V 2263 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36188 Q02388 (COL7A1) G R 2287 rs121912839 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36189 Q02388 (COL7A1) G E 2296 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36190 Q02388 (COL7A1) G R 2316 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36191 Q02388 (COL7A1) G R 2351 rs1800013 Benign
36192 Q02388 (COL7A1) G S 2366 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36193 Q02388 (COL7A1) G S 2369 - Disease: Epidermolysi s bullosa pruriginosa (EBP) [MIM:604129]
36194 Q02388 (COL7A1) P L 2429 rs2229822 Benign
36195 Q02388 (COL7A1) G R 2557 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36196 Q02388 (COL7A1) G R 2569 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36197 Q02388 (COL7A1) G R 2575 rs760891216 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36198 Q02388 (COL7A1) R W 2622 rs139318843 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36199 Q02388 (COL7A1) G C 2623 rs121912831 Disease: Epidermolysi s bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850]
36200 Q02388 (COL7A1) G R 2653 rs121912851 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36201 Q02388 (COL7A1) G V 2671 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36202 Q02388 (COL7A1) G D 2674 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36203 Q02388 (COL7A1) G R 2674 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36204 Q02388 (COL7A1) G D 2713 rs369591910 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36205 Q02388 (COL7A1) G R 2713 - Disease: Epidermolysi s bullosa pruriginosa (EBP) [MIM:604129]
36206 Q02388 (COL7A1) G A 2740 - Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36207 Q02388 (COL7A1) G R 2749 rs121912853 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36208 Q02388 (COL7A1) G S 2775 rs1333259313 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36209 Q02388 (COL7A1) R W 2791 rs142566193 Disease: Epidermolysi s bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]
36210 Q02388 (COL7A1) M K 2798 rs121912828 Disease: Epidermolysi s bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]
36211 Q02410 (APBA1) S A 184 rs34788368 Benign
36212 Q02413 (DSG1) M V 11 rs1426310 Benign
36213 Q02413 (DSG1) T S 395 rs16961655 Benign
36214 Q02413 (DSG1) N T 493 rs8091003 Benign
36215 Q02413 (DSG1) T N 498 rs8091117 Benign
36216 Q02413 (DSG1) Y S 528 rs16961689 Benign
36217 Q02413 (DSG1) D N 538 rs34302455 Benign
36218 Q02413 (DSG1) M I 665 rs35360042 Benign
36219 Q02413 (DSG1) L Q 821 rs16961692 Benign
36220 Q02413 (DSG1) D N 828 rs3752094 Benign
36221 Q02413 (DSG1) Y F 841 rs3752095 Benign
36222 Q02446 (SP4) Q K 197 rs1042848 Benign
36223 Q02447 (SP3) T A 164 rs1047640 Benign
36224 Q02487 (DSC2) N S 11 rs868333 Benign
36225 Q02487 (DSC2) R C 203 rs142331975 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
36226 Q02487 (DSC2) I T 231 rs1390387214 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
36227 Q02487 (DSC2) T M 275 rs397517404 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
36228 Q02487 (DSC2) T A 340 rs368299411 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
36229 Q02487 (DSC2) T I 358 rs139399951 Benign
36230 Q02487 (DSC2) V M 364 - Disease: Arrhythmogen ic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
36231 Q02487 (DSC2) A V 596 rs148185335 Benign
36232 Q02487 (DSC2) Q H 638 rs147742157 Benign
36233 Q02487 (DSC2) I V 776 rs1893963 Benign
36234 Q02487 (DSC2) R Q 798 rs61731921 Benign
36235 Q02505 (MUC3A) V A 3120 rs6960868 Benign
36236 Q02505 (MUC3A) Y H 3299 rs10258821 Benign
36237 Q02505 (MUC3A) Y N 3299 rs10258821 Benign
36238 Q02535 (ID3) T A 105 rs11574 Benign
36239 Q02535 (ID3) S A 111 rs11542317 Benign
36240 Q02539 (H1-1) T I 99 rs417751 Benign
36241 Q02539 (H1-1) S F 115 rs34541321 Benign
36242 Q02539 (H1-1) K R 140 rs16891235 Benign
36243 Q02548 (PAX5) G R 24 rs868494257 Benign
36244 Q02548 (PAX5) V G 26 rs926053251 Benign
36245 Q02548 (PAX5) P Q 34 - Benign
36246 Q02548 (PAX5) D V 53 - Benign
36247 Q02548 (PAX5) R G 59 - Benign
36248 Q02548 (PAX5) S N 66 - Benign
36249 Q02548 (PAX5) T R 75 - Benign
36250 Q02548 (PAX5) P R 80 - Benign
36251 Q02548 (PAX5) I T 139 - Benign
36252 Q02548 (PAX5) V I 151 rs115889954 Benign
36253 Q02548 (PAX5) G V 183 - Benign
36254 Q02548 (PAX5) G S 183 rs398123063 Disease: Leukemia, acute lymphoblasti c, 3 (ALL3) [MIM:613065]
36255 Q02548 (PAX5) S L 213 rs137870876 Benign
36256 Q02548 (PAX5) I T 301 rs372989600 Benign
36257 Q02548 (PAX5) A T 322 rs34810717 Benign
36258 Q02548 (PAX5) G V 338 - Benign
36259 Q02556 (IRF8) T A 80 rs397514711 Disease: Immunodefici ency 32A (IMD32A) [MIM:614893]
36260 Q02556 (IRF8) K E 108 rs397514710 Disease: Immunodefici ency 32B (IMD32B) [MIM:226990]
36261 Q02643 (GHRHR) A T 57 rs4988496 Benign
36262 Q02643 (GHRHR) E D 121 rs4988498 Benign
36263 Q02643 (GHRHR) L H 144 rs121918118 Disease: Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
36264 Q02643 (GHRHR) A V 176 rs774281185 Disease: Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
36265 Q02643 (GHRHR) A E 222 rs121918120 Disease: Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
36266 Q02643 (GHRHR) V I 225 rs28371560 Benign
36267 Q02643 (GHRHR) F C 242 rs121918119 Disease: Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
36268 Q02643 (GHRHR) K E 329 rs121918121 Disease: Growth hormone deficiency, isolated, 4 (IGHD4) [MIM:618157]
36269 Q02643 (GHRHR) M T 422 rs2228078 Benign
36270 Q02742 (GCNT1) I V 152 rs2282683 Benign
36271 Q02742 (GCNT1) S C 158 rs11546569 Benign
36272 Q02747 (GUCA2A) S F 7 rs2071499 Benign
36273 Q02750 (MAP2K1) F S 53 rs121908594 Disease: Cardiofacioc utaneous syndrome 3 (CFC3) [MIM:615279]
36274 Q02750 (MAP2K1) G V 128 rs730880508 Disease: Cardiofacioc utaneous syndrome 3 (CFC3) [MIM:615279]
36275 Q02750 (MAP2K1) Y C 130 rs121908595 Disease: Cardiofacioc utaneous syndrome 3 (CFC3) [MIM:615279]
36276 Q02763 (TEK) I T 148 rs35969327 Benign
36277 Q02763 (TEK) A V 226 rs35814893 Benign
36278 Q02763 (TEK) C Y 233 - Disease: Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272]
36279 Q02763 (TEK) Q P 346 rs682632 Benign
36280 Q02763 (TEK) T I 391 rs34032300 Benign
36281 Q02763 (TEK) V I 486 rs1334811 Benign
36282 Q02763 (TEK) V L 600 rs35030851 Benign
36283 Q02763 (TEK) Y C 611 rs1306527531 Disease: Glaucoma 3, primary congenital, E (GLC3E) [MIM:617272]
36284 Q02763 (TEK) L F 634 rs35378598 Benign
36285 Q02763 (TEK) V I 676 rs56367117 Benign
36286 Q02763 (TEK) A T 724 rs4631561 Benign
36287 Q02763 (TEK) R W 849 rs80338908 Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36288 Q02763 (TEK) Y C 897 rs80338909 Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36289 Q02763 (TEK) Y S 897 rs80338909 Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36290 Q02763 (TEK) R H 915 rs387906745 Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36291 Q02763 (TEK) R C 918 - Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36292 Q02763 (TEK) V L 919 - Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36293 Q02763 (TEK) A S 925 - Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36294 Q02763 (TEK) K N 1100 - Disease: Dominantly inherited venous malformation s (VMCM) [MIM:600195]
36295 Q02779 (MAP3K10) P Q 168 rs36102209 Benign
36296 Q02790 (FKBP4) T P 436 rs1042228 Benign
36297 Q02809 (PLOD1) E D 67 rs7551068 Benign
36298 Q02809 (PLOD1) A T 84 rs34878020 Benign
36299 Q02809 (PLOD1) A T 99 rs7551175 Benign
36300 Q02809 (PLOD1) A S 120 rs2273285 Benign
36301 Q02809 (PLOD1) W G 446 - Disease: Ehlers- Danlos syndrome, kyphoscoliot ic type, 1 (EDSKSCL1) [MIM:225400]
36302 Q02809 (PLOD1) W C 612 rs121913553 Disease: Ehlers- Danlos syndrome, kyphoscoliot ic type, 1 (EDSKSCL1) [MIM:225400]
36303 Q02809 (PLOD1) A T 667 rs199730384 Disease: Ehlers- Danlos syndrome, kyphoscoliot ic type, 1 (EDSKSCL1) [MIM:225400]
36304 Q02809 (PLOD1) G R 678 rs121913551 Disease: Ehlers- Danlos syndrome, kyphoscoliot ic type, 1 (EDSKSCL1) [MIM:225400]
36305 Q02809 (PLOD1) H R 706 - Disease: Ehlers- Danlos syndrome, kyphoscoliot ic type, 1 (EDSKSCL1) [MIM:225400]
36306 Q02817 (MUC2) L P 58 rs2856111 Benign
36307 Q02817 (MUC2) V M 116 rs11825977 Benign
36308 Q02817 (MUC2) G S 832 rs11245936 Benign
36309 Q02817 (MUC2) S R 1619 rs11245947 Benign
36310 Q02817 (MUC2) P L 1689 rs11245949 Benign
36311 Q02817 (MUC2) P H 1768 rs34493663 Benign
36312 Q02817 (MUC2) I T 2154 rs6421972 Benign
36313 Q02817 (MUC2) T P 2524 rs7480563 Benign
36314 Q02817 (MUC2) T S 2524 rs7480563 Benign
36315 Q02817 (MUC2) Q L 2653 rs7126405 Benign
36316 Q02817 (MUC2) Q P 2653 rs7126405 Benign
36317 Q02818 (NUCB1) M V 338 rs35456905 Benign
36318 Q02818 (NUCB1) R Q 399 rs200372110 Benign
36319 Q02833 (RASSF7) P A 89 rs2242183 Benign
36320 Q02833 (RASSF7) R Q 156 rs2242182 Benign
36321 Q02846 (GUCY2D) W R 21 rs9905402 Benign
36322 Q02846 (GUCY2D) T M 55 rs201414567 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36323 Q02846 (GUCY2D) E V 103 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36324 Q02846 (GUCY2D) C Y 105 rs61749669 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36325 Q02846 (GUCY2D) T M 312 rs61749673 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36326 Q02846 (GUCY2D) L P 325 rs61749675 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36327 Q02846 (GUCY2D) A V 328 rs56280231 Benign
36328 Q02846 (GUCY2D) R S 331 rs34596269 Benign
36329 Q02846 (GUCY2D) A S 362 rs61749677 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36330 Q02846 (GUCY2D) R C 438 rs565948960 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36331 Q02846 (GUCY2D) V M 507 rs746002871 Benign
36332 Q02846 (GUCY2D) F S 565 rs61749755 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36333 Q02846 (GUCY2D) I V 573 rs61749756 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36334 Q02846 (GUCY2D) R W 602 rs770740012 Benign
36335 Q02846 (GUCY2D) W L 640 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36336 Q02846 (GUCY2D) R Q 660 rs61750162 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36337 Q02846 (GUCY2D) A E 693 rs35146471 Benign
36338 Q02846 (GUCY2D) P S 701 rs34598902 Benign
36339 Q02846 (GUCY2D) A V 710 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36340 Q02846 (GUCY2D) R W 722 rs34331388 Benign
36341 Q02846 (GUCY2D) D H 728 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36342 Q02846 (GUCY2D) I A 734 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36343 Q02846 (GUCY2D) R W 768 rs61750168 Disease: Night blindness, congenital stationary, 1I (CSNB1I) [MIM:618555]
36344 Q02846 (GUCY2D) L H 782 rs8069344 Benign
36345 Q02846 (GUCY2D) M R 784 rs375010731 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36346 Q02846 (GUCY2D) R Q 795 rs61750171 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36347 Q02846 (GUCY2D) E D 837 rs28933695 Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36348 Q02846 (GUCY2D) R C 838 rs61750172 Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36349 Q02846 (GUCY2D) R G 838 - Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36350 Q02846 (GUCY2D) R H 838 rs61750173 Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36351 Q02846 (GUCY2D) R P 838 - Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36352 Q02846 (GUCY2D) E K 841 - Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36353 Q02846 (GUCY2D) K N 846 - Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36354 Q02846 (GUCY2D) T A 849 - Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36355 Q02846 (GUCY2D) P S 858 rs61750176 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36356 Q02846 (GUCY2D) P R 873 - Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36357 Q02846 (GUCY2D) V L 902 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36358 Q02846 (GUCY2D) I T 949 rs267606857 Disease: Cone-rod dystrophy 6 (CORD6) [MIM:601777]
36359 Q02846 (GUCY2D) L P 954 rs61750182 Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36360 Q02846 (GUCY2D) S L 1007 - Disease: Leber congenital amaurosis 1 (LCA1) [MIM:204000]
36361 Q02878 (RPL6) H R 227 rs17851813 Benign
36362 Q02878 (RPL6) K E 237 rs16942044 Benign
36363 Q02880 (TOP2B) H Y 63 rs886039770 Disease: -
36364 Q02928 (CYP4A11) N S 226 rs12759923 Benign
36365 Q02928 (CYP4A11) S G 353 rs3899049 Benign
36366 Q02928 (CYP4A11) F S 434 rs1126742 Benign
36367 Q02952 (AKAP12) K E 117 rs10872670 Benign
36368 Q02952 (AKAP12) K Q 216 rs3734799 Benign
36369 Q02952 (AKAP12) E G 920 rs13212161 Benign
36370 Q02952 (AKAP12) A S 987 rs1042069 Benign
36371 Q02952 (AKAP12) V I 1096 rs3734797 Benign
36372 Q02952 (AKAP12) R L 1296 rs9478198 Benign
36373 Q02952 (AKAP12) E K 1355 rs12201388 Benign
36374 Q02952 (AKAP12) E D 1600 rs3823310 Benign
36375 Q02952 (AKAP12) E D 1689 rs3734795 Benign
36376 Q02962 (PAX2) D G 2 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36377 Q02962 (PAX2) G E 24 rs201239919 Disease: -
36378 Q02962 (PAX2) G V 25 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36379 Q02962 (PAX2) L R 33 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36380 Q02962 (PAX2) R Q 56 rs587777708 Disease: Focal segmental glomeruloscl erosis 7 (FSGS7) [MIM:616002]
36381 Q02962 (PAX2) S I 61 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36382 Q02962 (PAX2) S N 61 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36383 Q02962 (PAX2) L P 69 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36384 Q02962 (PAX2) R T 71 rs104894170 Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36385 Q02962 (PAX2) G S 76 rs79555199 Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36386 Q02962 (PAX2) P L 80 rs1554856032 Disease: Focal segmental glomeruloscl erosis 7 (FSGS7) [MIM:616002]
36387 Q02962 (PAX2) G S 84 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36388 Q02962 (PAX2) R P 117 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36389 Q02962 (PAX2) P H 130 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36390 Q02962 (PAX2) P S 130 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36391 Q02962 (PAX2) S F 133 - Disease: Focal segmental glomeruloscl erosis 7 (FSGS7) [MIM:616002]
36392 Q02962 (PAX2) I V 139 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36393 Q02962 (PAX2) T A 150 rs1201078720 Disease: Focal segmental glomeruloscl erosis 7 (FSGS7) [MIM:616002]
36394 Q02962 (PAX2) A T 160 rs201383632 Benign
36395 Q02962 (PAX2) T N 164 rs370214925 Disease: Focal segmental glomeruloscl erosis 7 (FSGS7) [MIM:616002]
36396 Q02962 (PAX2) S T 175 - Benign
36397 Q02962 (PAX2) G R 189 rs1131692055 Disease: Focal segmental glomeruloscl erosis 7 (FSGS7) [MIM:616002]
36398 Q02962 (PAX2) A V 295 rs1403345811 Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36399 Q02962 (PAX2) L P 296 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36400 Q02962 (PAX2) P S 298 rs893370744 Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36401 Q02962 (PAX2) T A 329 - Disease: Papillorenal syndrome (PAPRS) [MIM:120330]
36402 Q02962 (PAX2) A V 334 rs78738655 Benign
36403 Q02978 (SLC25A11) E K 141 - Disease: Paragangliom as 6 (PGL6) [MIM:618464]
36404 Q02978 (SLC25A11) M V 147 - Disease: Paragangliom as 6 (PGL6) [MIM:618464]
36405 Q02978 (SLC25A11) P T 239 - Disease: Paragangliom as 6 (PGL6) [MIM:618464]
36406 Q02985 (CFHR3) H Y 71 rs17575274 Benign
36407 Q03001 (DST) N K 1319 rs35014998 Benign
36408 Q03001 (DST) Q R 2332 rs16888053 Benign
36409 Q03001 (DST) Q R 3720 rs4712138 Benign
36410 Q03001 (DST) T A 5138 rs4715631 Benign
36411 Q03013 (GSTM4) S P 2 rs3211190 Benign
36412 Q03013 (GSTM4) A V 160 rs17838158 Benign
36413 Q03013 (GSTM4) L V 208 rs112611763 Benign
36414 Q03013 (GSTM4) Y F 209 rs112330158 Benign
36415 Q03013 (GSTM4) R K 211 rs200675176 Benign
36416 Q03013 (GSTM4) V M 212 rs149370166 Benign
36417 Q03060 (CREM) Q R 254 rs1804604 Benign
36418 Q03112 (MECOM) P S 120 rs7622799 Benign
36419 Q03112 (MECOM) Q R 295 rs34896995 Benign
36420 Q03112 (MECOM) R W 929 rs864309724 Disease: Radioulnar synostosis with amegakaryocy tic thrombocytop enia 2 (RUSAT2) [MIM:616738]
36421 Q03112 (MECOM) H R 930 rs864309723 Disease: Radioulnar synostosis with amegakaryocy tic thrombocytop enia 2 (RUSAT2) [MIM:616738]
36422 Q03112 (MECOM) T A 935 rs864309722 Disease: Radioulnar synostosis with amegakaryocy tic thrombocytop enia 2 (RUSAT2) [MIM:616738]
36423 Q03113 (GNA12) S G 68 rs11552939 Benign
36424 Q03113 (GNA12) F L 242 rs45606633 Benign
36425 Q03113 (GNA12) Y H 330 rs45583847 Benign
36426 Q03154 (ACY1) N S 179 rs887540 Benign
36427 Q03154 (ACY1) R W 197 rs121912700 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36428 Q03154 (ACY1) E D 233 rs121912699 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36429 Q03154 (ACY1) R C 353 rs121912698 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36430 Q03154 (ACY1) R Q 378 rs150480963 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36431 Q03154 (ACY1) R W 378 rs148346337 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36432 Q03154 (ACY1) R C 386 rs2229152 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36433 Q03154 (ACY1) R H 393 rs121912701 Disease: Aminoacylase -1 deficiency (ACY1D) [MIM:609924]
36434 Q03164 (KMT2A) A G 30 rs9332745 Benign
36435 Q03164 (KMT2A) A V 53 rs9332747 Benign
36436 Q03164 (KMT2A) E K 502 rs9332772 Benign
36437 Q03164 (KMT2A) Q P 1975 rs693598 Benign
36438 Q03164 (KMT2A) S T 2319 rs9332837 Benign
36439 Q03164 (KMT2A) P R 2354 rs9332838 Benign
36440 Q03164 (KMT2A) Q R 2387 rs9332839 Benign
36441 Q03164 (KMT2A) V I 3714 rs9332859 Benign
36442 Q03164 (KMT2A) S A 3773 rs9332861 Benign
36443 Q03167 (TGFBR3) S N 14 rs17884205 Benign
36444 Q03167 (TGFBR3) S F 15 rs1805110 Benign
36445 Q03167 (TGFBR3) W L 163 rs17885124 Benign
36446 Q03167 (TGFBR3) F I 351 rs11466592 Benign
36447 Q03167 (TGFBR3) A T 635 rs17882578 Benign
36448 Q03167 (TGFBR3) G R 765 rs17882828 Benign
36449 Q03167 (TGFBR3) P S 777 rs2228363 Benign
36450 Q03169 (TNFAIP2) Q E 282 rs1132339 Benign
36451 Q03169 (TNFAIP2) T I 565 rs2229727 Benign
36452 Q03169 (TNFAIP2) T M 580 rs2234146 Benign
36453 Q03188 (CENPC) L F 341 rs11250 Benign
36454 Q03188 (CENPC) G D 389 rs1056787 Benign
36455 Q03252 (LMNB2) H Y 157 rs797045143 Disease: Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540]
36456 Q03252 (LMNB2) R Q 235 rs121912497 Benign
36457 Q03252 (LMNB2) Y H 252 - Disease: Partial acquired lipodystroph y (APLD) [MIM:608709]
36458 Q03252 (LMNB2) A T 427 rs57521499 Disease: Partial acquired lipodystroph y (APLD) [MIM:608709]
36459 Q03393 (PTS) R C 16 rs104894274 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36460 Q03393 (PTS) R G 25 rs1167104933 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36461 Q03393 (PTS) R Q 25 rs104894273 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36462 Q03393 (PTS) L F 26 rs1317230624 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36463 Q03393 (PTS) E G 35 rs1328320990 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36464 Q03393 (PTS) N K 36 rs1449216377 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36465 Q03393 (PTS) N D 47 rs104894278 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36466 Q03393 (PTS) N S 52 rs104894275 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36467 Q03393 (PTS) V M 56 rs104894277 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36468 Q03393 (PTS) T M 67 rs370340361 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36469 Q03393 (PTS) V D 70 - Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36470 Q03393 (PTS) P L 87 rs765406631 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36471 Q03393 (PTS) P S 87 rs104894276 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36472 Q03393 (PTS) D N 96 rs104894280 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36473 Q03393 (PTS) V M 97 rs750455879 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36474 Q03393 (PTS) Y C 99 rs1555198458 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36475 Q03393 (PTS) F V 100 - Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36476 Q03393 (PTS) T M 106 rs200712908 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36477 Q03393 (PTS) I V 114 rs1555198495 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36478 Q03393 (PTS) D G 116 rs104894279 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36479 Q03393 (PTS) V L 124 rs150726932 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36480 Q03393 (PTS) K E 129 rs1040441824 Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36481 Q03393 (PTS) D G 136 - Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36482 Q03393 (PTS) D V 136 - Disease: Hyperphenyla laninemia, BH4-deficien t, A (HPABH4A) [MIM:261640]
36483 Q03395 (ROM1) R H 16 rs143166696 Benign
36484 Q03395 (ROM1) P T 60 rs199757012 Benign
36485 Q03395 (ROM1) G D 75 rs747140028 Benign
36486 Q03395 (ROM1) T M 108 rs146358003 Benign
36487 Q03395 (ROM1) G A 118 rs1799959 Benign
36488 Q03395 (ROM1) R H 229 rs150168119 Benign
36489 Q03395 (ROM1) R Q 242 rs767877192 Benign
36490 Q03395 (ROM1) A T 265 rs200272942 Benign
36491 Q03395 (ROM1) M T 271 rs137950927 Benign
36492 Q03403 (TFF2) R W 3 rs7277409 Benign
36493 Q03405 (PLAUR) E G 55 rs4251813 Benign
36494 Q03405 (PLAUR) T A 86 rs399145 Benign
36495 Q03405 (PLAUR) R Q 105 rs4251878 Benign
36496 Q03405 (PLAUR) K R 220 rs2302524 Benign
36497 Q03405 (PLAUR) N K 281 rs4251921 Benign
36498 Q03405 (PLAUR) D A 297 rs16976608 Benign
36499 Q03405 (PLAUR) L P 317 rs4760 Benign
36500 Q03426 (MVK) G R 12 - Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36501 Q03426 (MVK) H N 20 rs11544299 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36502 Q03426 (MVK) H P 20 rs104895295 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36503 Q03426 (MVK) H Q 20 rs104895335 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36504 Q03426 (MVK) L P 39 rs104895296 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36505 Q03426 (MVK) L P 41 rs397514571 Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36506 Q03426 (MVK) S N 52 rs7957619 Benign
36507 Q03426 (MVK) V I 132 rs104895336 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36508 Q03426 (MVK) S L 135 rs104895297 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36509 Q03426 (MVK) A T 148 rs104895298 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36510 Q03426 (MVK) S L 150 rs747116992 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36511 Q03426 (MVK) P L 167 rs104895300 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36512 Q03426 (MVK) G R 171 rs104895337 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36513 Q03426 (MVK) G R 202 rs104895301 Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36514 Q03426 (MVK) G E 211 rs104895325 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36515 Q03426 (MVK) R Q 215 rs104895303 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36516 Q03426 (MVK) T I 243 rs104895314 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36517 Q03426 (MVK) V I 250 rs104895339 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36518 Q03426 (MVK) L P 255 rs397514570 Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36519 Q03426 (MVK) L F 264 rs104895315 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36520 Q03426 (MVK) L P 265 rs104895316 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36521 Q03426 (MVK) L R 265 rs104895316 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36522 Q03426 (MVK) I T 268 rs104895304 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36523 Q03426 (MVK) L P 279 - Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36524 Q03426 (MVK) Y D 291 - Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36525 Q03426 (MVK) N T 301 rs121917789 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36526 Q03426 (MVK) G S 309 rs104895305 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36527 Q03426 (MVK) V M 310 rs104895319 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36528 Q03426 (MVK) H R 312 - Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36529 Q03426 (MVK) G R 326 rs104895308 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36530 Q03426 (MVK) A T 334 rs104895317 Disease: Mevalonic aciduria (MEVA) [MIM:610377]
36531 Q03426 (MVK) G S 335 rs11614976 Benign
36532 Q03426 (MVK) T M 356 rs104895342 Benign
36533 Q03426 (MVK) F S 365 rs398122911 Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36534 Q03426 (MVK) G S 376 rs971159663 Disease: Porokeratosi s 3, multiple types (POROK3) [MIM:175900]
36535 Q03426 (MVK) G V 376 rs104895340 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36536 Q03426 (MVK) V I 377 rs28934897 Disease: Hyperimmunog lobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
36537 Q03431 (PTH1R) P L 132 rs121434599 Disease: Chondrodyspl asia Blomstrand type (BOCD) [MIM:215045]
36538 Q03431 (PTH1R) H R 223 rs121434597 Disease: Metaphyseal chondrodyspl asia, Jansen type (MCDJ) [MIM:156400]
36539 Q03431 (PTH1R) T P 410 rs121434598 Disease: Metaphyseal chondrodyspl asia, Jansen type (MCDJ) [MIM:156400]
36540 Q03431 (PTH1R) T R 410 rs121434602 Disease: Metaphyseal chondrodyspl asia, Jansen type (MCDJ) [MIM:156400]
36541 Q03431 (PTH1R) I R 458 rs121434600 Disease: Metaphyseal chondrodyspl asia, Jansen type (MCDJ) [MIM:156400]
36542 Q03468 (ERCC6) R W 134 rs148095899 Benign
36543 Q03468 (ERCC6) K T 255 - Benign
36544 Q03468 (ERCC6) G D 399 rs2228528 Benign
36545 Q03468 (ERCC6) D A 425 rs4253046 Benign
36546 Q03468 (ERCC6) G D 446 rs4253047 Benign
36547 Q03468 (ERCC6) R W 670 rs202080674 Disease: Cockayne syndrome B (CSB) [MIM:133540]
36548 Q03468 (ERCC6) N D 680 rs1554788393 Disease: Cockayne syndrome B (CSB) [MIM:133540]
36549 Q03468 (ERCC6) W C 686 rs751292948 Disease: Cockayne syndrome B (CSB) [MIM:133540]
36550 Q03468 (ERCC6) S L 687 rs1026438103 Disease: Cockayne syndrome B (CSB) [MIM:133540]
36551 Q03468 (ERCC6) W R 851 rs368728467 Disease: Cockayne syndrome B (CSB) [MIM:133540]
36552 Q03468 (ERCC6) L P 871 - Disease: Cerebro- oculo-facio- skeletal syndrome 1 (COFS1) [MIM:214150]
36553 Q03468 (ERCC6) T M 942 rs2228525 Benign
36554 Q03468 (ERCC6) V G 957 - Disease: Cockayne syndrome B (CSB) [MIM:133540]
36555 Q03468 (ERCC6) L P 987 rs121917905 Disease: Cerebro- oculo-facio- skeletal syndrome 1 (COFS1) [MIM:214150]
36556 Q03468 (ERCC6) Y C 1002 rs4253206 Benign
36557 Q03468 (ERCC6) P L 1042 - Disease: Cockayne syndrome B (CSB) [MIM:133540]
36558 Q03468 (ERCC6) P R 1095 rs4253208 Benign
36559 Q03468 (ERCC6) M V 1097 rs2228526 Benign
36560 Q03468 (ERCC6) R G 1213 rs2228527 Benign
36561 Q03468 (ERCC6) T I 1220 rs34704611 Benign
36562 Q03468 (ERCC6) R P 1230 rs4253211 Benign
36563 Q03468 (ERCC6) V L 1308 rs2229761 Benign
36564 Q03468 (ERCC6) G V 1322 rs4253219 Benign
36565 Q03468 (ERCC6) D E 1355 rs34917815 Benign
36566 Q03468 (ERCC6) G R 1372 rs4253227 Benign
36567 Q03468 (ERCC6) G R 1382 rs4253228 Benign
36568 Q03468 (ERCC6) G R 1410 rs4253229 Benign
36569 Q03468 (ERCC6) Q R 1413 rs2228529 Benign
36570 Q03468 (ERCC6) T I 1441 rs4253230 Benign
36571 Q03518 (TAP1) P S 67 rs375389015 Benign
36572 Q03518 (TAP1) G R 77 rs57640466 Benign
36573 Q03518 (TAP1) L V 170 rs2228108 Benign
36574 Q03518 (TAP1) V L 304 rs36229525 Benign
36575 Q03518 (TAP1) S F 346 rs2228111 Benign
36576 Q03518 (TAP1) I V 393 rs1057141 Benign
36577 Q03518 (TAP1) A V 430 rs2127679 Benign
36578 Q03518 (TAP1) G C 479 rs2228110 Benign
36579 Q03518 (TAP1) V L 518 rs41550019 Benign
36580 Q03518 (TAP1) V I 578 rs41561219 Benign
36581 Q03518 (TAP1) D G 697 rs1135216 Benign
36582 Q03518 (TAP1) R Q 708 rs1057149 Benign
36583 Q03518 (TAP1) Q R 768 rs1057149 Benign
36584 Q03519 (TAP2) R K 56 rs17220192 Benign
36585 Q03519 (TAP2) A T 374 rs111303994 Benign
36586 Q03519 (TAP2) V I 379 rs1800454 Benign
36587 Q03519 (TAP2) V I 467 rs150253319 Benign
36588 Q03519 (TAP2) A S 513 - Benign
36589 Q03519 (TAP2) A T 565 rs2228396 Benign
36590 Q03519 (TAP2) M V 577 rs2228391 Benign
36591 Q03519 (TAP2) R C 651 rs4148876 Benign
36592 Q03519 (TAP2) T A 665 rs241447 Benign
36593 Q03591 (CFHR1) H Y 157 rs425757 Benign
36594 Q03591 (CFHR1) L V 159 rs410232 Benign
36595 Q03591 (CFHR1) E Q 175 rs388862 Benign
36596 Q03591 (CFHR1) A V 296 rs16840561 Benign
36597 Q03692 (COL10A1) G E 18 rs111033551 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36598 Q03692 (COL10A1) G R 18 rs111033550 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36599 Q03692 (COL10A1) M T 27 rs1064583 Benign
36600 Q03692 (COL10A1) G R 98 rs2243370 Benign
36601 Q03692 (COL10A1) R H 198 rs148785195 Benign
36602 Q03692 (COL10A1) G R 545 rs2228547 Benign
36603 Q03692 (COL10A1) Y D 582 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36604 Q03692 (COL10A1) C R 591 rs111033546 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36605 Q03692 (COL10A1) G E 595 rs111033553 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36606 Q03692 (COL10A1) G R 595 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36607 Q03692 (COL10A1) Y C 597 rs111033554 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36608 Q03692 (COL10A1) Y H 597 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36609 Q03692 (COL10A1) Y D 598 rs111033544 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36610 Q03692 (COL10A1) S P 600 rs111033555 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36611 Q03692 (COL10A1) V M 603 rs143769451 Benign
36612 Q03692 (COL10A1) L P 614 rs111033545 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36613 Q03692 (COL10A1) N K 617 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36614 Q03692 (COL10A1) G V 618 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36615 Q03692 (COL10A1) L R 644 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36616 Q03692 (COL10A1) D G 648 - Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36617 Q03692 (COL10A1) W R 651 rs111033549 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36618 Q03692 (COL10A1) Q P 653 rs1271742789 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36619 Q03692 (COL10A1) S P 671 rs111033552 Disease: Schmid type metaphyseal chondrodyspl asia (SMCD) [MIM:156500]
36620 Q03701 (CEBPZ) P S 15 rs3213746 Benign
36621 Q03701 (CEBPZ) V I 102 rs2098386 Benign
36622 Q03701 (CEBPZ) K R 303 rs17020328 Benign
36623 Q03701 (CEBPZ) N S 639 rs3180252 Benign
36624 Q03721 (KCNC4) D Y 318 rs35167146 Benign
36625 Q03721 (KCNC4) R Q 516 rs59123361 Benign
36626 Q03721 (KCNC4) C Y 520 rs12411176 Benign
36627 Q03923 (ZNF85) K T 60 rs7254311 Benign
36628 Q03923 (ZNF85) Q R 84 rs56321708 Benign
36629 Q03923 (ZNF85) R I 115 rs56231962 Benign
36630 Q03923 (ZNF85) T R 177 rs56393308 Benign
36631 Q03923 (ZNF85) G R 184 rs11665978 Benign
36632 Q03923 (ZNF85) T A 266 rs1063156 Benign
36633 Q03923 (ZNF85) F S 270 rs11670246 Benign
36634 Q03924 (ZNF117) C Y 83 rs3807069 Benign
36635 Q03924 (ZNF117) K N 112 rs3807068 Benign
36636 Q03936 (ZNF92) A V 122 rs10265083 Benign
36637 Q03936 (ZNF92) Q R 492 rs17853615 Benign
36638 Q03936 (ZNF92) R H 527 rs10239197 Benign
36639 Q04118 (PRB3) P Q 186 rs11054208 Benign
36640 Q04323 (UBXN1) L F 56 rs11543359 Benign
36641 Q04446 (GBE1) R G 190 rs2229519 Benign
36642 Q04446 (GBE1) L P 224 rs137852886 Disease: Glycogen storage disease 4 (GSD4) [MIM:232500]
36643 Q04446 (GBE1) F L 257 rs137852887 Disease: Glycogen storage disease 4 (GSD4) [MIM:232500]
36644 Q04446 (GBE1) T S 265 rs17856389 Benign
36645 Q04446 (GBE1) Y S 329 rs80338671 Disease: Glycogen storage disease 4 (GSD4) [MIM:232500]
36646 Q04446 (GBE1) I V 334 rs2172397 Benign
36647 Q04446 (GBE1) T A 507 rs2228389 Benign
36648 Q04446 (GBE1) R C 515 rs80338672 Disease: Glycogen storage disease 4 (GSD4) [MIM:232500]
36649 Q04446 (GBE1) R H 515 rs201958741 Disease: Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]
36650 Q04446 (GBE1) R Q 524 rs80338673 Disease: Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]
36651 Q04446 (GBE1) H R 545 rs137852889 Disease: Glycogen storage disease 4 (GSD4) [MIM:232500]
36652 Q04446 (GBE1) H R 628 rs137852891 Disease: Glycogen storage disease 4 (GSD4) [MIM:232500]
36653 Q04609 (FOLH1) Y H 75 rs202676 Benign
36654 Q04609 (FOLH1) H Y 475 rs61886492 Benign
36655 Q04609 (FOLH1) V L 627 rs2988342 Benign
36656 Q04637 (EIF4G1) P S 71 rs113810947 Benign
36657 Q04637 (EIF4G1) T A 161 rs13319149 Benign
36658 Q04637 (EIF4G1) Y C 311 rs16858632 Benign
36659 Q04637 (EIF4G1) M V 432 rs2178403 Benign
36660 Q04637 (EIF4G1) A V 502 rs111290936 Disease: Parkinson disease 18 (PARK18) [MIM:614251]
36661 Q04637 (EIF4G1) I V 806 rs62287499 Benign
36662 Q04637 (EIF4G1) T S 829 rs111500185 Benign
36663 Q04637 (EIF4G1) R H 1205 rs112176450 Disease: Parkinson disease 18 (PARK18) [MIM:614251]
36664 Q04637 (EIF4G1) P A 1229 rs35629949 Benign
36665 Q04637 (EIF4G1) L P 1233 rs2230570 Benign
36666 Q04637 (EIF4G1) N S 1257 rs73053766 Benign
36667 Q04656 (ATP7A) A P 629 rs72554639 Disease: Menkes disease (MNK) [MIM:309400]
36668 Q04656 (ATP7A) S L 637 rs151340631 Disease: Occipital horn syndrome (OHS) [MIM:304150]
36669 Q04656 (ATP7A) I T 669 rs2234935 Benign
36670 Q04656 (ATP7A) R H 703 rs2234936 Benign
36671 Q04656 (ATP7A) L R 706 rs72554642 Disease: Menkes disease (MNK) [MIM:309400]
36672 Q04656 (ATP7A) G R 727 rs72554644 Disease: Menkes disease (MNK) [MIM:309400]
36673 Q04656 (ATP7A) V L 767 rs2227291 Benign
36674 Q04656 (ATP7A) R H 844 rs367775730 Disease: Menkes disease (MNK) [MIM:309400]
36675 Q04656 (ATP7A) G R 853 - Disease: Menkes disease (MNK) [MIM:309400]
36676 Q04656 (ATP7A) G V 860 - Disease: Menkes disease (MNK) [MIM:309400]
36677 Q04656 (ATP7A) L R 873 rs72554646 Disease: Menkes disease (MNK) [MIM:309400]
36678 Q04656 (ATP7A) G E 876 - Disease: Menkes disease (MNK) [MIM:309400]
36679 Q04656 (ATP7A) G R 876 - Disease: Menkes disease (MNK) [MIM:309400]
36680 Q04656 (ATP7A) Q R 924 - Disease: Menkes disease (MNK) [MIM:309400]
36681 Q04656 (ATP7A) T I 994 rs267606673 Disease: Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]
36682 Q04656 (ATP7A) C R 1000 - Disease: Menkes disease (MNK) [MIM:309400]
36683 Q04656 (ATP7A) L P 1006 rs72554651 Disease: Menkes disease (MNK) [MIM:309400]
36684 Q04656 (ATP7A) A V 1007 - Disease: Menkes disease (MNK) [MIM:309400]
36685 Q04656 (ATP7A) G D 1015 - Disease: Menkes disease (MNK) [MIM:309400]
36686 Q04656 (ATP7A) G D 1019 rs72554652 Disease: Menkes disease (MNK) [MIM:309400]
36687 Q04656 (ATP7A) D G 1044 - Disease: Menkes disease (MNK) [MIM:309400]
36688 Q04656 (ATP7A) T I 1048 - Disease: Menkes disease (MNK) [MIM:309400]
36689 Q04656 (ATP7A) L P 1100 - Disease: Menkes disease (MNK) [MIM:309400]
36690 Q04656 (ATP7A) G D 1118 rs72554654 Disease: Menkes disease (MNK) [MIM:309400]
36691 Q04656 (ATP7A) G R 1255 rs72554655 Disease: Menkes disease (MNK) [MIM:309400]
36692 Q04656 (ATP7A) K E 1282 - Disease: Menkes disease (MNK) [MIM:309400]
36693 Q04656 (ATP7A) G E 1300 - Disease: Menkes disease (MNK) [MIM:309400]
36694 Q04656 (ATP7A) G R 1302 rs72554657 Disease: Menkes disease (MNK) [MIM:309400]
36695 Q04656 (ATP7A) G V 1302 - Disease: Menkes disease (MNK) [MIM:309400]
36696 Q04656 (ATP7A) N K 1304 - Disease: Menkes disease (MNK) [MIM:309400]
36697 Q04656 (ATP7A) N S 1304 rs151340632 Disease: Occipital horn syndrome (OHS) [MIM:304150]
36698 Q04656 (ATP7A) D A 1305 - Disease: Menkes disease (MNK) [MIM:309400]
36699 Q04656 (ATP7A) G R 1315 rs797045390 Disease: Menkes disease (MNK) [MIM:309400]
36700 Q04656 (ATP7A) A V 1325 - Disease: Menkes disease (MNK) [MIM:309400]
36701 Q04656 (ATP7A) S R 1344 - Disease: Menkes disease (MNK) [MIM:309400]
36702 Q04656 (ATP7A) I F 1345 - Disease: Menkes disease (MNK) [MIM:309400]
36703 Q04656 (ATP7A) K E 1350 rs4826245 Benign
36704 Q04656 (ATP7A) A V 1362 - Disease: Menkes disease (MNK) [MIM:309400]
36705 Q04656 (ATP7A) G R 1369 - Disease: Menkes disease (MNK) [MIM:309400]
36706 Q04656 (ATP7A) P S 1386 rs267606672 Disease: Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489]
36707 Q04656 (ATP7A) S F 1397 - Disease: Menkes disease (MNK) [MIM:309400]
36708 Q04656 (ATP7A) I V 1464 rs2234938 Benign
36709 Q04671 (OCA2) R W 10 rs554862186 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36710 Q04671 (OCA2) G R 27 rs61738394 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36711 Q04671 (OCA2) S R 86 rs772243109 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36712 Q04671 (OCA2) C F 112 rs562649990 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36713 Q04671 (OCA2) P L 198 rs183487020 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36714 Q04671 (OCA2) P L 211 rs190612616 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36715 Q04671 (OCA2) P R 241 rs2305253 Benign
36716 Q04671 (OCA2) A D 257 rs1050968 Benign
36717 Q04671 (OCA2) R W 266 rs33929465 Benign
36718 Q04671 (OCA2) R G 290 rs769408559 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36719 Q04671 (OCA2) R W 305 rs1800401 Benign
36720 Q04671 (OCA2) A V 334 rs121918168 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36721 Q04671 (OCA2) A V 336 rs34010619 Benign
36722 Q04671 (OCA2) V M 350 rs533478642 Benign
36723 Q04671 (OCA2) A V 368 rs61745150 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36724 Q04671 (OCA2) I T 370 rs34731820 Benign
36725 Q04671 (OCA2) F I 385 rs137956605 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36726 Q04671 (OCA2) T M 387 rs150335311 Benign
36727 Q04671 (OCA2) M I 394 rs121918171 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36728 Q04671 (OCA2) M L 395 rs757286784 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36729 Q04671 (OCA2) T M 404 rs144812594 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36730 Q04671 (OCA2) R Q 419 rs1800407 Benign
36731 Q04671 (OCA2) R W 419 rs143218168 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36732 Q04671 (OCA2) L F 440 rs1800408 Benign
36733 Q04671 (OCA2) L H 440 - Benign
36734 Q04671 (OCA2) V I 443 rs121918166 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36735 Q04671 (OCA2) M V 446 rs140566426 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36736 Q04671 (OCA2) I S 473 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36737 Q04671 (OCA2) N D 476 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36738 Q04671 (OCA2) A T 481 rs74653330 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36739 Q04671 (OCA2) N D 489 rs121918170 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36740 Q04671 (OCA2) V A 519 rs41446944 Benign
36741 Q04671 (OCA2) H Q 549 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36742 Q04671 (OCA2) R H 560 rs35110389 Benign
36743 Q04671 (OCA2) T I 592 rs1800413 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36744 Q04671 (OCA2) K E 614 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36745 Q04671 (OCA2) K N 614 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36746 Q04671 (OCA2) H R 615 rs1800414 Benign
36747 Q04671 (OCA2) I L 617 rs763016773 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36748 Q04671 (OCA2) V I 633 rs1372200062 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36749 Q04671 (OCA2) W R 652 rs886043514 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36750 Q04671 (OCA2) W C 679 rs121918169 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36751 Q04671 (OCA2) W R 679 rs751822606 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36752 Q04671 (OCA2) F C 684 rs772754008 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36753 Q04671 (OCA2) R C 720 rs141545475 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36754 Q04671 (OCA2) I T 722 rs1800417 Benign
36755 Q04671 (OCA2) A P 724 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36756 Q04671 (OCA2) S L 736 rs780296175 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36757 Q04671 (OCA2) P L 743 rs121918167 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36758 Q04671 (OCA2) G R 775 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36759 Q04671 (OCA2) A V 787 rs200457227 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36760 Q04671 (OCA2) G R 795 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36761 Q04671 (OCA2) Q H 799 - Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36762 Q04671 (OCA2) Y H 827 rs1255943449 Disease: Albinism, oculocutaneo us, 2 (OCA2) [MIM:203200]
36763 Q04695 (KRT17) M K 88 rs28928898 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36764 Q04695 (KRT17) M T 88 rs28928898 Disease: Steatocystom a multiplex (SM) [MIM:184500]
36765 Q04695 (KRT17) L P 91 - Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36766 Q04695 (KRT17) N D 92 rs28928896 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36767 Q04695 (KRT17) N H 92 rs28928896 Disease: Steatocystom a multiplex (SM) [MIM:184500]
36768 Q04695 (KRT17) N S 92 rs59151893 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36769 Q04695 (KRT17) R H 94 rs28928897 Benign
36770 Q04695 (KRT17) R C 94 rs58730926 Disease: Steatocystom a multiplex (SM) [MIM:184500]
36771 Q04695 (KRT17) R P 94 rs28928897 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36772 Q04695 (KRT17) L P 95 rs28928899 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36773 Q04695 (KRT17) L Q 95 rs28928899 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36774 Q04695 (KRT17) Y D 98 rs28933088 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36775 Q04695 (KRT17) L P 99 rs28933089 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36776 Q04695 (KRT17) V M 102 rs59977263 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36777 Q04695 (KRT17) N D 109 rs267607412 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36778 Q04695 (KRT17) L P 388 rs56690581 Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36779 Q04695 (KRT17) L R 388 - Disease: Pachyonychia congenita 2 (PC2) [MIM:167210]
36780 Q04721 (NOTCH2) C Y 444 rs111033632 Disease: Alagille syndrome 2 (ALGS2) [MIM:610205]
36781 Q04721 (NOTCH2) V F 1667 rs17024517 Benign
36782 Q04725 (TLE2) S G 381 rs199788562 Benign
36783 Q04726 (TLE3) A V 229 rs1057864 Benign
36784 Q04756 (HGFAC) A S 218 rs3748034 Benign
36785 Q04756 (HGFAC) V M 225 rs16844370 Benign
36786 Q04756 (HGFAC) F L 231 rs1987546 Benign
36787 Q04756 (HGFAC) R H 509 rs16844401 Benign
36788 Q04756 (HGFAC) R Q 644 rs2498323 Benign
36789 Q04759 (PRKCQ) D V 306 rs45590231 Benign
36790 Q04759 (PRKCQ) P L 330 rs2236379 Benign
36791 Q04759 (PRKCQ) D N 354 rs34524148 Benign
36792 Q04760 (GLO1) C Y 19 rs17855424 Benign
36793 Q04760 (GLO1) E A 111 rs4746 Benign
36794 Q04771 (ACVR1) A G 15 rs13406336 Benign
36795 Q04771 (ACVR1) S F 41 rs55957214 Benign
36796 Q04771 (ACVR1) H Q 47 rs34056189 Benign
36797 Q04771 (ACVR1) R I 202 rs387906591 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36798 Q04771 (ACVR1) R H 206 rs121912678 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36799 Q04771 (ACVR1) Q E 207 - Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36800 Q04771 (ACVR1) G E 328 rs387906589 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36801 Q04771 (ACVR1) G R 328 rs387906588 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36802 Q04771 (ACVR1) G W 328 rs387906588 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36803 Q04771 (ACVR1) G D 356 rs121912679 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36804 Q04771 (ACVR1) R P 375 rs387906590 Disease: Fibrodysplas ia ossificans progressiva (FOP) [MIM:135100]
36805 Q04828 (AKR1C1) R H 170 rs139588200 Benign
36806 Q04828 (AKR1C1) Q L 172 rs11474 Benign
36807 Q04844 (CHRNE) G R 13 rs372635387 Disease: Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
36808 Q04844 (CHRNE) G V 18 rs4790235 Benign
36809 Q04844 (CHRNE) W R 75 rs193919341 Disease: Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
36810 Q04844 (CHRNE) L P 98 rs28929768 Disease: Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
36811 Q04844 (CHRNE) P L 141 rs121909512 Disease: Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
36812 Q04844 (CHRNE) S L 163 rs121909516 Disease: Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
36813 Q04844 (CHRNE) R L 167 rs121909514 Disease: Myasthenic syndrome, congenital, 4C, associated with acetylcholin e receptor deficiency (CMS4C) [MIM:608931]
36814 Q04844 (CHRNE) L F 241 rs28999110 Disease: Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
36815 Q04844 (CHRNE) P L 265 rs759226183 Disease: Myasthenic syndrome, congenital, 4C, associated with acetylcholin e receptor deficiency (CMS4C) [MIM:608931]
36816 Q04844 (CHRNE) T P 284 rs121909510 Disease: Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
36817 Q04844 (CHRNE) V A 285 - Disease: Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
36818 Q04844 (CHRNE) L F 289 rs121909511 Disease: Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A) [MIM:605809]
36819 Q04844 (CHRNE) R W 331 rs121909515 Disease: Myasthenic syndrome, congenital, 4C, associated with acetylcholin e receptor deficiency (CMS4C) [MIM:608931]
36820 Q04844 (CHRNE) A P 431 rs121909517 Disease: Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B) [MIM:616324]
36821 Q04912 (MST1R) R S 75 rs35887539 Benign
36822 Q04912 (MST1R) P T 95 rs55908300 Benign
36823 Q04912 (MST1R) R C 185 rs55633379 Benign
36824 Q04912 (MST1R) R H 306 rs200046052 Disease: Nasopharynge al carcinoma, 3 (NPCA3) [MIM:617075]
36825 Q04912 (MST1R) R Q 322 rs2230593 Benign
36826 Q04912 (MST1R) G D 356 rs35924402 Benign
36827 Q04912 (MST1R) S L 434 rs2230591 Benign
36828 Q04912 (MST1R) N S 440 rs2230592 Benign
36829 Q04912 (MST1R) G D 465 rs34564898 Benign
36830 Q04912 (MST1R) R C 504 rs34350470 Benign
36831 Q04912 (MST1R) Q R 523 rs2230590 Benign
36832 Q04912 (MST1R) Q P 613 rs35986685 Benign
36833 Q04912 (MST1R) V M 900 rs56091918 Benign
36834 Q04912 (MST1R) G S 1195 rs7433231 Benign
36835 Q04912 (MST1R) R G 1304 rs528985327 Benign
36836 Q04912 (MST1R) R G 1335 rs1062633 Benign
36837 Q04912 (MST1R) Y C 1360 rs56330223 Benign
36838 Q04941 (PLP2) A S 91 rs1802969 Benign
36839 Q05066 (SRY) S L 3 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36840 Q05066 (SRY) S N 18 rs104894971 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36841 Q05066 (SRY) V A 60 rs764249635 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36842 Q05066 (SRY) V L 60 rs104894957 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36843 Q05066 (SRY) R G 62 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36844 Q05066 (SRY) M I 64 rs104894969 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36845 Q05066 (SRY) M R 64 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36846 Q05066 (SRY) F V 67 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36847 Q05066 (SRY) I T 68 rs104894968 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36848 Q05066 (SRY) R M 75 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36849 Q05066 (SRY) R S 76 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36850 Q05066 (SRY) M T 78 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36851 Q05066 (SRY) N Y 87 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36852 Q05066 (SRY) I M 90 rs104894959 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36853 Q05066 (SRY) S G 91 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36854 Q05066 (SRY) G E 95 rs104894972 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36855 Q05066 (SRY) G R 95 rs104894974 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36856 Q05066 (SRY) L H 101 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36857 Q05066 (SRY) K I 106 rs104894964 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36858 Q05066 (SRY) P R 108 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36859 Q05066 (SRY) F S 109 rs104894956 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36860 Q05066 (SRY) A T 113 rs104894966 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36861 Q05066 (SRY) P L 125 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36862 Q05066 (SRY) Y C 127 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36863 Q05066 (SRY) Y F 127 rs104894973 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36864 Q05066 (SRY) P R 131 - Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36865 Q05066 (SRY) R W 133 rs104894976 Disease: 46,XY sex reversal 1 (SRXY1) [MIM:400044]
36866 Q05086 (UBE3A) C Y 44 - Benign
36867 Q05086 (UBE3A) R H 62 rs587784511 Benign
36868 Q05086 (UBE3A) C R 140 rs587782907 Benign
36869 Q05086 (UBE3A) V G 156 rs587782915 Benign
36870 Q05086 (UBE3A) A T 201 rs147145506 Benign
36871 Q05086 (UBE3A) V G 290 rs1059383 Benign
36872 Q05086 (UBE3A) N T 293 rs587782908 Benign
36873 Q05086 (UBE3A) S T 358 rs141984760 Benign
36874 Q05086 (UBE3A) S P 372 - Benign
36875 Q05086 (UBE3A) M I 501 rs587782916 Benign
36876 Q05086 (UBE3A) Q E 611 rs587782918 Benign
36877 Q05086 (UBE3A) Q P 611 rs587782919 Benign
36878 Q05086 (UBE3A) L R 696 rs587782920 Benign
36879 Q05086 (UBE3A) V I 785 rs587782910 Benign
36880 Q05193 (DNM1) A P 177 rs587777860 Disease: Epileptic encephalopat hy, early infantile, 31 (EIEE31) [MIM:616346]
36881 Q05193 (DNM1) K N 206 rs587777861 Disease: Epileptic encephalopat hy, early infantile, 31 (EIEE31) [MIM:616346]
36882 Q05193 (DNM1) R W 237 rs760270633 Disease: Epileptic encephalopat hy, early infantile, 31 (EIEE31) [MIM:616346]
36883 Q05193 (DNM1) G A 359 rs587777862 Disease: Epileptic encephalopat hy, early infantile, 31 (EIEE31) [MIM:616346]
36884 Q05193 (DNM1) D N 744 rs1042007 Benign
36885 Q05209 (PTPN12) V I 322 rs9640663 Benign
36886 Q05209 (PTPN12) T A 573 rs3750050 Benign
36887 Q05209 (PTPN12) E K 706 rs2230602 Benign
36888 Q05315 (CLC) A V 28 rs17608 Benign
36889 Q05329 (GAD2) G R 12 rs8190591 Benign
36890 Q05329 (GAD2) K N 124 rs8190600 Benign
36891 Q05329 (GAD2) P Q 153 rs2839672 Benign
36892 Q05329 (GAD2) G E 232 rs2839673 Benign
36893 Q05329 (GAD2) K R 286 rs8190671 Benign
36894 Q05329 (GAD2) G A 326 rs2839678 Benign
36895 Q05329 (GAD2) R Q 375 rs8190730 Benign
36896 Q05397 (PTK2) H P 292 - Benign
36897 Q05397 (PTK2) H Q 292 - Benign
36898 Q05397 (PTK2) D E 1030 - Benign
36899 Q05469 (LIPE) Y H 100 rs16975750 Benign
36900 Q05469 (LIPE) Q H 127 rs34080774 Benign
36901 Q05469 (LIPE) P S 146 rs34348028 Benign
36902 Q05469 (LIPE) S T 177 rs16975748 Benign
36903 Q05469 (LIPE) A V 194 rs34996020 Benign
36904 Q05469 (LIPE) R Q 217 rs3745238 Benign
36905 Q05469 (LIPE) K N 497 rs35938529 Benign
36906 Q05469 (LIPE) N H 499 rs33921216 Benign
36907 Q05469 (LIPE) R S 938 rs7246232 Benign
36908 Q05481 (ZNF91) Y H 112 rs296091 Benign
36909 Q05481 (ZNF91) T A 336 rs449447 Benign
36910 Q05481 (ZNF91) A T 386 rs403356 Benign
36911 Q05481 (ZNF91) F I 455 rs440638 Benign
36912 Q05481 (ZNF91) E K 521 rs12976753 Benign
36913 Q05481 (ZNF91) T A 896 rs296093 Benign
36914 Q05481 (ZNF91) R I 1011 rs1821844 Benign
36915 Q05481 (ZNF91) R Q 1033 rs1821846 Benign
36916 Q05481 (ZNF91) L P 1164 rs428549 Benign
36917 Q05481 (ZNF91) L V 1164 rs385750 Benign
36918 Q05513 (PRKCZ) R H 49 rs35271800 Benign
36919 Q05513 (PRKCZ) R H 84 rs56017162 Benign
36920 Q05516 (ZBTB16) M V 617 rs121434606 Disease: Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447]
36921 Q05586 (GRIN1) R W 217 - Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal recessive (NDHMSR) [MIM:617820]
36922 Q05586 (GRIN1) A S 349 rs148008303 Benign
36923 Q05586 (GRIN1) T A 419 rs763133592 Benign
36924 Q05586 (GRIN1) I M 540 rs3181457 Benign
36925 Q05586 (GRIN1) D E 552 rs1554770054 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36926 Q05586 (GRIN1) P R 557 rs878853143 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36927 Q05586 (GRIN1) G R 618 - Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36928 Q05586 (GRIN1) G R 620 rs797045047 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36929 Q05586 (GRIN1) Y S 647 - Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36930 Q05586 (GRIN1) E K 662 rs387906635 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36931 Q05586 (GRIN1) A S 682 rs1126448 Benign
36932 Q05586 (GRIN1) S Y 688 - Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36933 Q05586 (GRIN1) G R 815 rs797044925 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36934 Q05586 (GRIN1) G V 815 - Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36935 Q05586 (GRIN1) F L 817 rs1554770624 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36936 Q05586 (GRIN1) G R 827 rs1451230055 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36937 Q05586 (GRIN1) R C 844 rs1554770667 Disease: Neurodevelop mental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254]
36938 Q05639 (EEF1A2) G S 70 rs587777162 Disease: Epileptic encephalopat hy, early infantile, 33 (EIEE33) [MIM:616409]
36939 Q05639 (EEF1A2) E K 122 rs786205866 Disease: Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]
36940 Q05639 (EEF1A2) D H 252 rs786205865 Disease: Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]
36941 Q05655 (PRKCD) N S 348 rs33911937 Benign
36942 Q05655 (PRKCD) F S 375 rs1056998 Benign
36943 Q05655 (PRKCD) L F 410 rs34502209 Benign
36944 Q05655 (PRKCD) R W 483 rs35891605 Benign
36945 Q05655 (PRKCD) M V 494 - Benign
36946 Q05655 (PRKCD) V M 593 - Benign
36947 Q05682 (CALD1) H R 397 rs6973420 Benign
36948 Q05707 (COL14A1) N H 563 rs4870723 Benign
36949 Q05707 (COL14A1) T A 636 rs56815167 Benign
36950 Q05707 (COL14A1) P L 855 rs2305606 Benign
36951 Q05707 (COL14A1) V I 922 rs11774228 Benign
36952 Q05707 (COL14A1) V L 1342 rs17833992 Benign
36953 Q05823 (RNASEL) G S 59 rs151296858 Benign
36954 Q05823 (RNASEL) I L 97 rs56250729 Benign
36955 Q05823 (RNASEL) A T 289 rs35553278 Benign
36956 Q05823 (RNASEL) S F 406 rs145787003 Benign
36957 Q05823 (RNASEL) R Q 462 rs486907 Benign
36958 Q05823 (RNASEL) D E 541 rs627928 Benign
36959 Q05823 (RNASEL) R H 592 rs35896902 Benign
36960 Q05901 (CHRNB3) K E 451 rs35327613 Benign
36961 Q05932 (FPGS) F L 13 rs1034635821 Benign
36962 Q05932 (FPGS) I V 22 rs10760502 Benign
36963 Q05932 (FPGS) V D 437 rs12686275 Benign
36964 Q05932 (FPGS) R C 466 rs35789560 Benign
36965 Q05932 (FPGS) A V 489 rs17855900 Benign
36966 Q05932 (FPGS) S F 499 rs200314440 Benign
36967 Q05932 (FPGS) S T 528 rs34354111 Benign
36968 Q05940 (SLC18A2) P L 387 rs1392638187 Disease: Parkinsonism -dystonia, infantile, 2 (PKDYS2) [MIM:618049]
36969 Q05952 (TNP2) R W 131 rs11640138 Benign
36970 Q05996 (ZP2) G V 36 rs2075520 Benign
36971 Q05BV3 (EML5) I V 269 rs17188228 Benign
36972 Q05C16 (LRRC63) M V 137 rs7338697 Benign
36973 Q05C16 (LRRC63) M V 206 rs6561303 Benign
36974 Q05C16 (LRRC63) K R 281 rs12865423 Benign
36975 Q05C16 (LRRC63) T A 282 rs12865424 Benign
36976 Q05D32 (CTDSPL2) A V 244 rs871923 Benign
36977 Q05D60 (DEUP1) S F 175 rs34205920 Benign
36978 Q05D60 (DEUP1) E G 440 rs12282288 Benign
36979 Q05D60 (DEUP1) E Q 440 rs12288277 Benign
36980 Q05D60 (DEUP1) Q K 504 rs2259633 Benign
36981 Q06033 (ITIH3) Q K 315 rs3617 Benign
36982 Q06033 (ITIH3) T M 340 rs35271262 Benign
36983 Q06033 (ITIH3) P L 640 rs60805548 Benign
36984 Q06033 (ITIH3) T A 751 rs9883888 Benign
36985 Q06033 (ITIH3) R Q 825 rs2710330 Benign
36986 Q06033 (ITIH3) A V 858 rs2710329 Benign
36987 Q06055 (ATP5MC2) S I 58 rs13819 Benign
36988 Q06055 (ATP5MC2) M K 141 rs1803177 Benign
36989 Q06124 (PTPN11) T I 2 rs267606990 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36990 Q06124 (PTPN11) T A 42 rs397507501 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36991 Q06124 (PTPN11) N K 58 rs397507506 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36992 Q06124 (PTPN11) T A 59 rs886043790 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36993 Q06124 (PTPN11) G V 60 rs397507509 Benign
36994 Q06124 (PTPN11) G A 60 rs397507509 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36995 Q06124 (PTPN11) D G 61 rs121918461 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36996 Q06124 (PTPN11) D N 61 rs397507510 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
36997 Q06124 (PTPN11) D V 61 rs121918461 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
36998 Q06124 (PTPN11) D Y 61 rs397507510 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
36999 Q06124 (PTPN11) Y D 62 rs121918460 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37000 Q06124 (PTPN11) Y C 63 rs121918459 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37001 Q06124 (PTPN11) E K 69 rs397507511 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37002 Q06124 (PTPN11) E Q 69 rs397507511 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37003 Q06124 (PTPN11) F L 71 rs397507512 Benign
37004 Q06124 (PTPN11) A G 72 rs121918454 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37005 Q06124 (PTPN11) A S 72 rs121918453 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37006 Q06124 (PTPN11) A T 72 rs121918453 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37007 Q06124 (PTPN11) A V 72 rs121918454 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37008 Q06124 (PTPN11) T I 73 rs121918462 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37009 Q06124 (PTPN11) E A 76 rs121918465 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37010 Q06124 (PTPN11) E D 76 rs397507514 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37011 Q06124 (PTPN11) E G 76 rs121918465 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37012 Q06124 (PTPN11) E K 76 rs121918464 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37013 Q06124 (PTPN11) E V 76 rs121918465 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37014 Q06124 (PTPN11) Q P 79 - Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37015 Q06124 (PTPN11) Q R 79 rs121918466 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37016 Q06124 (PTPN11) D A 106 rs397507517 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37017 Q06124 (PTPN11) E D 139 rs397507520 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37018 Q06124 (PTPN11) Q R 256 rs397507523 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37019 Q06124 (PTPN11) L F 261 rs397507525 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37020 Q06124 (PTPN11) L H 261 rs765642157 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37021 Q06124 (PTPN11) L F 262 - Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37022 Q06124 (PTPN11) L R 262 rs397507526 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37023 Q06124 (PTPN11) R Q 265 rs376607329 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37024 Q06124 (PTPN11) Y C 279 rs121918456 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37025 Q06124 (PTPN11) Y S 279 rs121918456 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37026 Q06124 (PTPN11) I V 282 rs397507529 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37027 Q06124 (PTPN11) F L 285 rs397507531 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37028 Q06124 (PTPN11) F S 285 rs121918463 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37029 Q06124 (PTPN11) N D 308 rs28933386 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37030 Q06124 (PTPN11) N S 308 rs121918455 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37031 Q06124 (PTPN11) T M 411 rs121918467 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37032 Q06124 (PTPN11) A T 461 rs121918468 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37033 Q06124 (PTPN11) G A 464 rs121918469 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37034 Q06124 (PTPN11) T M 468 rs121918457 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37035 Q06124 (PTPN11) P S 491 rs397507539 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37036 Q06124 (PTPN11) R L 498 rs397507542 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37037 Q06124 (PTPN11) R W 498 rs397507541 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37038 Q06124 (PTPN11) R K 501 rs397507543 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37039 Q06124 (PTPN11) S T 502 rs121918458 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37040 Q06124 (PTPN11) G A 503 rs397507546 Disease: Leukemia, juvenile myelomonocyt ic (JMML) [MIM:607785]
37041 Q06124 (PTPN11) G R 503 rs397507545 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37042 Q06124 (PTPN11) M V 504 rs397507547 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37043 Q06124 (PTPN11) Q P 506 rs397509345 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37044 Q06124 (PTPN11) Q R 506 - Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37045 Q06124 (PTPN11) Q E 510 rs397507549 Disease: Noonan syndrome 1 (NS1) [MIM:163950]
37046 Q06124 (PTPN11) Q P 510 rs121918470 Disease: LEOPARD syndrome 1 (LPRD1) [MIM:151100]
37047 Q06136 (KDSR) Y F 186 rs1114167452 Disease: Erythrokerat odermia variabilis et progressiva 4 (EKVP4) [MIM:617526]
37048 Q06187 (BTK) L P 11 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37049 Q06187 (BTK) K R 12 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37050 Q06187 (BTK) S F 14 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37051 Q06187 (BTK) K E 19 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37052 Q06187 (BTK) F S 25 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37053 Q06187 (BTK) K R 27 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37054 Q06187 (BTK) R C 28 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37055 Q06187 (BTK) R H 28 rs128620185 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37056 Q06187 (BTK) R P 28 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37057 Q06187 (BTK) T P 33 rs128620189 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37058 Q06187 (BTK) Y S 39 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37059 Q06187 (BTK) Y C 40 rs1555980875 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37060 Q06187 (BTK) Y N 40 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37061 Q06187 (BTK) I N 61 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37062 Q06187 (BTK) V D 64 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37063 Q06187 (BTK) V F 64 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37064 Q06187 (BTK) R K 82 rs56035945 Benign
37065 Q06187 (BTK) V D 113 rs128621190 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37066 Q06187 (BTK) S F 115 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37067 Q06187 (BTK) T P 117 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37068 Q06187 (BTK) Q H 127 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37069 Q06187 (BTK) C S 154 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37070 Q06187 (BTK) C G 155 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37071 Q06187 (BTK) C R 155 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37072 Q06187 (BTK) T P 184 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37073 Q06187 (BTK) R Q 288 rs1555978277 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37074 Q06187 (BTK) R W 288 rs128621194 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37075 Q06187 (BTK) L P 295 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37076 Q06187 (BTK) G E 302 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37077 Q06187 (BTK) G R 302 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37078 Q06187 (BTK) R G 307 rs128621195 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37079 Q06187 (BTK) R T 307 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37080 Q06187 (BTK) D E 308 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37081 Q06187 (BTK) V A 319 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37082 Q06187 (BTK) Y S 334 rs128621196 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37083 Q06187 (BTK) L F 358 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37084 Q06187 (BTK) Y C 361 rs28935478 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37085 Q06187 (BTK) H Q 362 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37086 Q06187 (BTK) H P 364 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37087 Q06187 (BTK) N Y 365 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37088 Q06187 (BTK) S F 366 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37089 Q06187 (BTK) L F 369 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37090 Q06187 (BTK) I M 370 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37091 Q06187 (BTK) R G 372 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37092 Q06187 (BTK) L P 408 rs128621198 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37093 Q06187 (BTK) G R 414 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37094 Q06187 (BTK) Y H 418 rs144079566 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37095 Q06187 (BTK) I N 429 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37096 Q06187 (BTK) K E 430 rs128620184 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37097 Q06187 (BTK) K R 430 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37098 Q06187 (BTK) E D 445 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37099 Q06187 (BTK) G D 462 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37100 Q06187 (BTK) G V 462 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37101 Q06187 (BTK) Y D 476 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37102 Q06187 (BTK) M R 477 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37103 Q06187 (BTK) C F 502 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37104 Q06187 (BTK) C W 502 rs41310709 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37105 Q06187 (BTK) C R 506 rs128621200 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37106 Q06187 (BTK) C Y 506 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37107 Q06187 (BTK) A D 508 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37108 Q06187 (BTK) M I 509 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37109 Q06187 (BTK) M V 509 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37110 Q06187 (BTK) L P 512 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37111 Q06187 (BTK) L Q 512 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37112 Q06187 (BTK) L R 518 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37113 Q06187 (BTK) R Q 520 rs128621202 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37114 Q06187 (BTK) D G 521 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37115 Q06187 (BTK) D H 521 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37116 Q06187 (BTK) D N 521 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37117 Q06187 (BTK) A E 523 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37118 Q06187 (BTK) R G 525 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37119 Q06187 (BTK) R P 525 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37120 Q06187 (BTK) R Q 525 rs128620183 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37121 Q06187 (BTK) N K 526 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37122 Q06187 (BTK) V F 535 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37123 Q06187 (BTK) L P 542 rs128621203 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37124 Q06187 (BTK) R G 544 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37125 Q06187 (BTK) R K 544 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37126 Q06187 (BTK) F S 559 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37127 Q06187 (BTK) R P 562 rs104894770 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37128 Q06187 (BTK) R W 562 rs128621204 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37129 Q06187 (BTK) W L 563 rs1555977474 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37130 Q06187 (BTK) E K 567 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37131 Q06187 (BTK) S Y 578 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37132 Q06187 (BTK) W R 581 rs128621205 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37133 Q06187 (BTK) A V 582 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37134 Q06187 (BTK) F S 583 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37135 Q06187 (BTK) M L 587 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37136 Q06187 (BTK) E D 589 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37137 Q06187 (BTK) E G 589 rs128621206 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37138 Q06187 (BTK) E K 589 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37139 Q06187 (BTK) S P 592 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37140 Q06187 (BTK) G E 594 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37141 Q06187 (BTK) G R 594 rs1555977339 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37142 Q06187 (BTK) Y C 598 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37143 Q06187 (BTK) A D 607 rs128621208 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37144 Q06187 (BTK) G D 613 rs128621209 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37145 Q06187 (BTK) P A 619 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37146 Q06187 (BTK) P S 619 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37147 Q06187 (BTK) P T 619 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37148 Q06187 (BTK) A P 622 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37149 Q06187 (BTK) V G 626 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37150 Q06187 (BTK) M I 630 - Benign
37151 Q06187 (BTK) M K 630 rs128621210 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37152 Q06187 (BTK) M T 630 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37153 Q06187 (BTK) C Y 633 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37154 Q06187 (BTK) R C 641 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37155 Q06187 (BTK) R H 641 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37156 Q06187 (BTK) F L 644 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37157 Q06187 (BTK) F S 644 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37158 Q06187 (BTK) L P 647 - Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37159 Q06187 (BTK) L P 652 rs128622212 Disease: X-linked agammaglobul inemia (XLA) [MIM:300755]
37160 Q06190 (PPP2R3A) D G 67 rs9814557 Benign
37161 Q06190 (PPP2R3A) D N 67 rs57374999 Benign
37162 Q06190 (PPP2R3A) N S 108 rs36020282 Benign
37163 Q06190 (PPP2R3A) A S 171 rs6779903 Benign
37164 Q06190 (PPP2R3A) P A 481 rs34901937 Benign
37165 Q06190 (PPP2R3A) S G 642 rs17197552 Benign
37166 Q06190 (PPP2R3A) P L 695 rs9826032 Benign
37167 Q06190 (PPP2R3A) D N 745 rs16843645 Benign
37168 Q06210 (GFPT1) T A 15 rs387906638 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37169 Q06210 (GFPT1) T M 15 rs751097758 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37170 Q06210 (GFPT1) D V 43 - Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37171 Q06210 (GFPT1) R C 111 rs201322234 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37172 Q06210 (GFPT1) I T 121 rs753866967 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37173 Q06210 (GFPT1) V F 199 rs1378864996 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37174 Q06210 (GFPT1) D Y 366 - Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37175 Q06210 (GFPT1) R H 403 rs1363498649 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37176 Q06210 (GFPT1) R H 452 - Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37177 Q06210 (GFPT1) M T 509 - Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37178 Q06210 (GFPT1) M T 510 - Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37179 Q06210 (GFPT1) R W 514 - Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37180 Q06210 (GFPT1) R W 530 rs1024585946 Disease: Myasthenic syndrome, congenital, 12 (CMS12) [MIM:610542]
37181 Q06250 (WT1-AS) A T 13 rs6508 Benign
37182 Q06250 (WT1-AS) G A 66 rs3087923 Benign
37183 Q06265 (EXOSC9) L P 14 rs139632595 Disease: Pontocerebel lar hypoplasia 1D (PCH1D) [MIM:618065]
37184 Q06265 (EXOSC9) I V 366 rs1803183 Benign
37185 Q06265 (EXOSC9) S T 425 rs1051881 Benign
37186 Q06278 (AOX1) Q R 314 rs58185012 Benign
37187 Q06278 (AOX1) R C 802 rs41309768 Benign
37188 Q06278 (AOX1) R H 921 rs56199635 Benign
37189 Q06278 (AOX1) N S 1135 rs55754655 Benign
37190 Q06278 (AOX1) S L 1271 rs141786030 Benign
37191 Q06278 (AOX1) H R 1297 rs3731722 Benign
37192 Q06323 (PSME1) S N 55 rs1803830 Benign
37193 Q06323 (PSME1) T K 244 rs14930 Benign
37194 Q06330 (RBPJ) E G 63 rs387907270 Disease: Adams-Oliver syndrome 3 (AOS3) [MIM:614814]
37195 Q06330 (RBPJ) K E 169 rs387907271 Disease: Adams-Oliver syndrome 3 (AOS3) [MIM:614814]
37196 Q06330 (RBPJ) K E 291 rs1064372 Benign
37197 Q06330 (RBPJ) D H 334 rs1064376 Benign
37198 Q06330 (RBPJ) I V 408 rs1064381 Benign
37199 Q06330 (RBPJ) R Q 419 rs1064384 Benign
37200 Q06330 (RBPJ) P S 425 rs1064387 Benign
37201 Q06330 (RBPJ) A V 456 rs1064402 Benign
37202 Q06413 (MEF2C) S R 36 - Disease: -
37203 Q06413 (MEF2C) C R 39 rs796052729 Disease: -
37204 Q06416 (POU5F1B) L R 33 rs1061394 Benign
37205 Q06416 (POU5F1B) L F 69 rs1061395 Benign
37206 Q06416 (POU5F1B) G E 176 rs6998061 Benign
37207 Q06416 (POU5F1B) K T 182 rs13273814 Benign
37208 Q06416 (POU5F1B) N D 214 rs13274084 Benign
37209 Q06416 (POU5F1B) E Q 238 rs7002225 Benign
37210 Q06416 (POU5F1B) P L 313 rs556361752 Benign
37211 Q06418 (TYRO3) P L 21 rs17854578 Benign
37212 Q06418 (TYRO3) I N 346 rs12148316 Benign
37213 Q06418 (TYRO3) G S 542 rs17857363 Benign
37214 Q06418 (TYRO3) A V 815 rs1042057 Benign
37215 Q06418 (TYRO3) L M 819 rs17854579 Benign
37216 Q06418 (TYRO3) R G 824 rs17857364 Benign
37217 Q06418 (TYRO3) A T 831 - Benign
37218 Q06432 (CACNG1) G S 196 rs1799938 Benign
37219 Q06481 (APLP2) D N 632 rs3740881 Benign
37220 Q06495 (SLC34A1) A F 48 rs121918610 Disease: Nephrolithia sis/osteopor osis, hypophosphat emic, 1 (NPHLOP1) [MIM:612286]
37221 Q06495 (SLC34A1) V M 147 rs121918611 Disease: Nephrolithia sis/osteopor osis, hypophosphat emic, 1 (NPHLOP1) [MIM:612286]
37222 Q06495 (SLC34A1) G A 153 rs769409705 Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37223 Q06495 (SLC34A1) G V 153 rs769409705 Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37224 Q06495 (SLC34A1) L P 155 rs369770760 Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37225 Q06495 (SLC34A1) R W 215 rs577273266 Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37226 Q06495 (SLC34A1) C G 336 rs876661338 Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37227 Q06495 (SLC34A1) V E 408 rs140649226 Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37228 Q06495 (SLC34A1) W R 488 - Disease: Hypercalcemi a, infantile, 2 (HCINF2) [MIM:616963]
37229 Q06520 (SULT2A1) A P 63 rs11569681 Benign
37230 Q06520 (SULT2A1) A T 261 rs11569679 Benign
37231 Q06546 (GABPA) A V 291 rs2829897 Benign
37232 Q06546 (GABPA) E K 345 rs2829900 Benign
37233 Q06587 (RING1) R Q 95 rs1204881780 Benign
37234 Q06609 (RAD51) T P 131 - Disease: Fanconi anemia, complementat ion group R (FANCR) [MIM:617244]
37235 Q06609 (RAD51) R Q 150 rs121917739 Disease: Breast cancer (BC) [MIM:114480]
37236 Q06609 (RAD51) A T 293 rs1057519413 Disease: Fanconi anemia, complementat ion group R (FANCR) [MIM:617244]
37237 Q06643 (LTB) G E 70 rs3093554 Benign
37238 Q06643 (LTB) S R 84 rs4647186 Benign
37239 Q06643 (LTB) L F 87 rs4647187 Benign
37240 Q06643 (LTB) A P 111 rs3093555 Benign
37241 Q06643 (LTB) A D 122 rs2229699 Benign
37242 Q06710 (PAX8) R H 31 rs104893657 Disease: Hypothyroidi sm, congenital, non- goitrous, 2 (CHNG2) [MIM:218700]
37243 Q06710 (PAX8) Q P 40 rs104893656 Disease: Hypothyroidi sm, congenital, non- goitrous, 2 (CHNG2) [MIM:218700]
37244 Q06710 (PAX8) C Y 57 rs104893659 Disease: Hypothyroidi sm, congenital, non- goitrous, 2 (CHNG2) [MIM:218700]
37245 Q06710 (PAX8) L R 62 rs104893658 Disease: Hypothyroidi sm, congenital, non- goitrous, 2 (CHNG2) [MIM:218700]
37246 Q06710 (PAX8) F L 329 rs3188996 Benign
37247 Q06730 (ZNF33A) Q E 549 rs2505232 Benign
37248 Q06730 (ZNF33A) G R 614 rs12256916 Benign
37249 Q06730 (ZNF33A) D H 804 rs10508862 Benign
37250 Q06732 (ZNF33B) R C 145 rs210280 Benign
37251 Q06732 (ZNF33B) H R 356 rs7914982 Benign
37252 Q06787 (FMR1) R Q 138 rs200163413 Disease: Fragile X syndrome (FXS) [MIM:300624]
37253 Q06787 (FMR1) A S 145 rs29281 Benign
37254 Q06787 (FMR1) G E 266 - Disease: Fragile X syndrome (FXS) [MIM:300624]
37255 Q06787 (FMR1) I N 304 rs121434622 Disease: Fragile X syndrome (FXS) [MIM:300624]
37256 Q06787 (FMR1) R H 546 rs782651077 Benign
37257 Q06830 (PRDX1) R G 62 rs34034070 Benign
37258 Q06945 (SOX4) I S 59 - Disease: Coffin-Siris syndrome 10 (CSS10) [MIM:618506]
37259 Q06945 (SOX4) F L 66 - Disease: Coffin-Siris syndrome 10 (CSS10) [MIM:618506]
37260 Q06945 (SOX4) K N 105 - Disease: Coffin-Siris syndrome 10 (CSS10) [MIM:618506]
37261 Q06945 (SOX4) A P 112 - Disease: Coffin-Siris syndrome 10 (CSS10) [MIM:618506]
37262 Q07001 (CHRND) L P 42 - Disease: Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
37263 Q07001 (CHRND) I K 79 rs121909509 Disease: Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
37264 Q07001 (CHRND) E K 80 rs121909504 Disease: Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
37265 Q07001 (CHRND) F L 95 rs121909506 Disease: Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]
37266 Q07001 (CHRND) V L 114 rs760395222 Benign
37267 Q07001 (CHRND) P Q 271 rs121909503 Disease: Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B) [MIM:616322]
37268 Q07001 (CHRND) Q E 288 rs41265127 Disease: Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]
37269 Q07001 (CHRND) S F 289 rs121909502 Disease: Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A) [MIM:616321]
37270 Q07001 (CHRND) E K 402 rs145955590 Disease: Myasthenic syndrome, congenital, 3C, associated with acetylcholin e receptor deficiency (CMS3C) [MIM:616323]
37271 Q07002 (CDK18) G S 48 rs35134237 Benign
37272 Q07002 (CDK18) G R 67 rs4623769 Benign
37273 Q07002 (CDK18) T M 166 rs17850752 Benign
37274 Q07011 (TNFRSF9) A T 56 rs9657963 Benign
37275 Q07011 (TNFRSF9) K N 115 rs9657965 Benign
37276 Q07011 (TNFRSF9) A D 176 rs9657979 Benign
37277 Q07021 (C1QBP) G W 247 - Disease: Combined oxidative phosphorylat ion deficiency 33 (COXPD33) [MIM:617713]
37278 Q07021 (C1QBP) L P 275 rs1555532483 Disease: Combined oxidative phosphorylat ion deficiency 33 (COXPD33) [MIM:617713]
37279 Q07065 (CKAP4) A T 348 rs3088113 Benign
37280 Q07075 (ENPEP) Q R 213 rs10004516 Benign
37281 Q07075 (ENPEP) V A 218 rs1126483 Benign
37282 Q07075 (ENPEP) R H 437 rs34949711 Benign
37283 Q07075 (ENPEP) S R 861 rs35812243 Benign
37284 Q07092 (COL16A1) T K 62 rs2228552 Benign
37285 Q07092 (COL16A1) R Q 418 rs6699645 Benign
37286 Q07092 (COL16A1) G S 745 rs34770879 Benign
37287 Q07157 (TJP1) N S 471 rs2229517 Benign
37288 Q07157 (TJP1) I V 790 rs2229515 Benign
37289 Q07157 (TJP1) P L 930 rs45529137 Benign
37290 Q07157 (TJP1) H R 1110 rs45567033 Benign
37291 Q07157 (TJP1) D A 1347 rs2291166 Benign
37292 Q07157 (TJP1) N S 1605 rs45578638 Benign
37293 Q07283 (TCHH) L R 63 rs2515663 Benign
37294 Q07283 (TCHH) V L 237 rs3134814 Benign
37295 Q07283 (TCHH) R S 552 rs6680692 Benign
37296 Q07283 (TCHH) L M 790 rs11803731 Benign
37297 Q07283 (TCHH) L V 1258 rs2496253 Benign
37298 Q07283 (TCHH) K Q 1902 rs1131471 Benign
37299 Q07343 (PDE4B) S C 703 rs2227297 Benign
37300 Q07444 (KLRC3) S N 2 rs2682489 Benign
37301 Q07444 (KLRC3) W P 19 rs796361824 Benign
37302 Q07444 (KLRC3) W R 19 rs2682490 Benign
37303 Q07444 (KLRC3) A T 106 rs28626640 Benign
37304 Q07444 (KLRC3) H P 113 rs2682494 Benign
37305 Q07444 (KLRC3) R S 135 rs1138437 Benign
37306 Q07444 (KLRC3) C S 155 rs2682495 Benign
37307 Q07507 (DPT) V I 201 rs6698023 Benign
37308 Q07617 (SPAG1) E K 331 rs17335870 Benign
37309 Q07617 (SPAG1) M T 777 rs6511 Benign
37310 Q07617 (SPAG1) H Y 827 rs6510 Benign
37311 Q07699 (SCN1B) D N 25 rs786205837 Disease: -
37312 Q07699 (SCN1B) R H 85 rs16969925 Disease: Atrial fibrillation , familial, 13 (ATFB13) [MIM:615377]
37313 Q07699 (SCN1B) E Q 87 rs121434627 Disease: -
37314 Q07699 (SCN1B) C W 121 rs104894718 Disease: Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]
37315 Q07699 (SCN1B) R C 125 rs1135401736 Disease: Epileptic encephalopat hy, early infantile, 52 (EIEE52) [MIM:617350]
37316 Q07699 (SCN1B) R L 125 rs759839781 Disease: Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]
37317 Q07699 (SCN1B) V I 138 rs72558029 Benign
37318 Q07699 (SCN1B) D N 153 rs72550247 Disease: Atrial fibrillation , familial, 13 (ATFB13) [MIM:615377]
37319 Q07699 (SCN1B) K I 208 rs780958012 Benign
37320 Q07699 (SCN1B) C Y 211 rs150721582 Benign
37321 Q07699 (SCN1B) G D 213 rs201209882 Benign
37322 Q07812 (BAX) G E 11 rs555248599 Benign
37323 Q07812 (BAX) G R 39 rs36017265 Benign
37324 Q07820 (MCL1) E D 173 rs2737820 Benign
37325 Q07820 (MCL1) A V 227 rs11580946 Benign
37326 Q07820 (MCL1) M L 231 rs140449444 Benign
37327 Q07837 (SLC3A1) L P 89 rs1453871309 Disease: Cystinuria (CSNU) [MIM:220100]
37328 Q07837 (SLC3A1) P S 122 - Disease: Cystinuria (CSNU) [MIM:220100]
37329 Q07837 (SLC3A1) M R 123 rs1269139353 Disease: Cystinuria (CSNU) [MIM:220100]
37330 Q07837 (SLC3A1) Y C 124 rs766947722 Disease: Cystinuria (CSNU) [MIM:220100]
37331 Q07837 (SLC3A1) P Q 128 rs576810133 Disease: Cystinuria (CSNU) [MIM:220100]
37332 Q07837 (SLC3A1) S P 130 - Disease: Cystinuria (CSNU) [MIM:220100]
37333 Q07837 (SLC3A1) D G 137 - Disease: Cystinuria (CSNU) [MIM:220100]
37334 Q07837 (SLC3A1) G R 140 rs768848958 Disease: Cystinuria (CSNU) [MIM:220100]
37335 Q07837 (SLC3A1) L Q 149 - Disease: Cystinuria (CSNU) [MIM:220100]
37336 Q07837 (SLC3A1) Y C 151 rs778354350 Disease: Cystinuria (CSNU) [MIM:220100]
37337 Q07837 (SLC3A1) D Y 179 rs747660493 Disease: Cystinuria (CSNU) [MIM:220100]
37338 Q07837 (SLC3A1) R Q 181 rs121912694 Disease: Cystinuria (CSNU) [MIM:220100]
37339 Q07837 (SLC3A1) T M 189 rs140317484 Disease: Cystinuria (CSNU) [MIM:220100]
37340 Q07837 (SLC3A1) T M 216 rs369641941 Disease: Cystinuria (CSNU) [MIM:220100]
37341 Q07837 (SLC3A1) N K 253 - Disease: Cystinuria (CSNU) [MIM:220100]
37342 Q07837 (SLC3A1) E K 268 rs757239030 Disease: Cystinuria (CSNU) [MIM:220100]
37343 Q07837 (SLC3A1) T A 341 rs200287661 Disease: Cystinuria (CSNU) [MIM:220100]
37344 Q07837 (SLC3A1) H P 348 rs756887216 Disease: Cystinuria (CSNU) [MIM:220100]
37345 Q07837 (SLC3A1) R C 362 rs375399468 Disease: Cystinuria (CSNU) [MIM:220100]
37346 Q07837 (SLC3A1) R H 362 rs121912697 Disease: Cystinuria (CSNU) [MIM:220100]
37347 Q07837 (SLC3A1) R P 365 rs567478582 Disease: Cystinuria (CSNU) [MIM:220100]
37348 Q07837 (SLC3A1) R W 365 rs765828196 Disease: Cystinuria (CSNU) [MIM:220100]
37349 Q07837 (SLC3A1) G R 398 rs1297802490 Disease: Cystinuria (CSNU) [MIM:220100]
37350 Q07837 (SLC3A1) N K 410 - Disease: Cystinuria (CSNU) [MIM:220100]
37351 Q07837 (SLC3A1) P R 441 - Disease: Cystinuria (CSNU) [MIM:220100]
37352 Q07837 (SLC3A1) R Q 452 rs750912461 Disease: Cystinuria (CSNU) [MIM:220100]
37353 Q07837 (SLC3A1) R W 452 rs201502095 Disease: Cystinuria (CSNU) [MIM:220100]
37354 Q07837 (SLC3A1) S L 455 rs949704245 Disease: Cystinuria (CSNU) [MIM:220100]
37355 Q07837 (SLC3A1) R C 456 rs139251285 Disease: Cystinuria (CSNU) [MIM:220100]
37356 Q07837 (SLC3A1) R H 456 rs373852467 Disease: Cystinuria (CSNU) [MIM:220100]
37357 Q07837 (SLC3A1) Y H 461 rs144162964 Disease: Cystinuria (CSNU) [MIM:220100]
37358 Q07837 (SLC3A1) M K 467 rs121912691 Disease: Cystinuria (CSNU) [MIM:220100]
37359 Q07837 (SLC3A1) M T 467 rs121912691 Disease: Cystinuria (CSNU) [MIM:220100]
37360 Q07837 (SLC3A1) G V 481 - Disease: Cystinuria (CSNU) [MIM:220100]
37361 Q07837 (SLC3A1) E K 482 - Disease: Cystinuria (CSNU) [MIM:220100]
37362 Q07837 (SLC3A1) S L 507 - Disease: Cystinuria (CSNU) [MIM:220100]
37363 Q07837 (SLC3A1) P A 508 rs1032513393 Disease: Cystinuria (CSNU) [MIM:220100]
37364 Q07837 (SLC3A1) Q R 510 rs778925791 Disease: Cystinuria (CSNU) [MIM:220100]
37365 Q07837 (SLC3A1) S W 547 rs368796166 Disease: Cystinuria (CSNU) [MIM:220100]
37366 Q07837 (SLC3A1) G S 568 rs376639206 Disease: Cystinuria (CSNU) [MIM:220100]
37367 Q07837 (SLC3A1) Y H 582 rs776729515 Disease: Cystinuria (CSNU) [MIM:220100]
37368 Q07837 (SLC3A1) R T 584 rs759696513 Disease: Cystinuria (CSNU) [MIM:220100]
37369 Q07837 (SLC3A1) F S 599 rs146963107 Disease: Cystinuria (CSNU) [MIM:220100]
37370 Q07837 (SLC3A1) G E 600 rs141944551 Disease: Cystinuria (CSNU) [MIM:220100]
37371 Q07837 (SLC3A1) P T 615 rs121912696 Disease: Cystinuria (CSNU) [MIM:220100]
37372 Q07837 (SLC3A1) M I 618 rs698761 Benign
37373 Q07837 (SLC3A1) F S 648 rs1279289214 Disease: Cystinuria (CSNU) [MIM:220100]
37374 Q07837 (SLC3A1) T R 652 rs121912695 Disease: Cystinuria (CSNU) [MIM:220100]
37375 Q07837 (SLC3A1) C W 666 - Disease: Cystinuria (CSNU) [MIM:220100]
37376 Q07837 (SLC3A1) L P 678 rs121912693 Disease: Cystinuria (CSNU) [MIM:220100]
37377 Q07864 (POLE) A S 31 rs34047482 Benign
37378 Q07864 (POLE) P L 99 rs5744739 Benign
37379 Q07864 (POLE) R H 231 rs1060500835 Benign
37380 Q07864 (POLE) A V 252 rs5744751 Benign
37381 Q07864 (POLE) R Q 260 rs5744752 Benign
37382 Q07864 (POLE) P H 286 rs1057519943 Benign
37383 Q07864 (POLE) P R 286 rs1057519943 Benign
37384 Q07864 (POLE) N S 336 rs5744760 Benign
37385 Q07864 (POLE) V L 411 rs1057519945 Disease: Colorectal cancer 12 (CRCS12) [MIM:615083]
37386 Q07864 (POLE) L V 424 rs483352909 Disease: Colorectal cancer 12 (CRCS12) [MIM:615083]
37387 Q07864 (POLE) P R 436 rs864622766 Benign
37388 Q07864 (POLE) Y F 458 - Disease: Colorectal cancer 12 (CRCS12) [MIM:615083]
37389 Q07864 (POLE) F I 695 rs5744799 Benign
37390 Q07864 (POLE) R W 762 rs1064794759 Benign
37391 Q07864 (POLE) V M 1368 rs770558983 Benign
37392 Q07864 (POLE) R C 1382 rs5744904 Benign
37393 Q07864 (POLE) Y C 1395 rs5744933 Benign
37394 Q07864 (POLE) N S 1396 rs5744934 Benign
37395 Q07864 (POLE) E Q 1399 rs5744935 Benign
37396 Q07864 (POLE) P S 1421 - Benign
37397 Q07864 (POLE) E A 1577 rs5744948 Benign
37398 Q07864 (POLE) A V 1712 rs5744950 Benign
37399 Q07864 (POLE) D N 1752 rs1335665224 Benign
37400 Q07864 (POLE) K R 1857 rs5744971 Benign
37401 Q07864 (POLE) C Y 1935 rs5744991 Benign
37402 Q07864 (POLE) D N 2013 - Benign
37403 Q07864 (POLE) A V 2040 rs5745021 Benign
37404 Q07864 (POLE) A T 2056 rs58916399 Benign
37405 Q07864 (POLE) E K 2140 rs5745066 Benign
37406 Q07864 (POLE) R C 2159 rs5745067 Benign
37407 Q07864 (POLE) R H 2165 rs5745068 Benign
37408 Q07869 (PPARA) R Q 127 rs1800204 Benign
37409 Q07869 (PPARA) L V 162 rs1800206 Benign
37410 Q07869 (PPARA) V A 227 rs1800234 Benign
37411 Q07869 (PPARA) A V 268 rs1042311 Benign
37412 Q07869 (PPARA) D N 304 rs1800242 Benign
37413 Q07869 (PPARA) G R 395 rs2229245 Benign
37414 Q07869 (PPARA) R T 409 rs1800243 Benign
37415 Q07889 (SOS1) T A 37 rs150565592 Benign
37416 Q07889 (SOS1) P R 102 rs1553362937 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37417 Q07889 (SOS1) E K 108 rs397517164 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37418 Q07889 (SOS1) P R 112 rs397517166 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37419 Q07889 (SOS1) K E 170 rs397517172 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37420 Q07889 (SOS1) I T 252 rs142094234 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37421 Q07889 (SOS1) T K 266 rs137852812 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37422 Q07889 (SOS1) M R 269 rs137852813 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37423 Q07889 (SOS1) M T 269 rs137852813 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37424 Q07889 (SOS1) D Y 309 rs397517180 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37425 Q07889 (SOS1) Y C 337 rs724160007 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37426 Q07889 (SOS1) T A 378 rs397517146 Benign
37427 Q07889 (SOS1) M V 422 - Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37428 Q07889 (SOS1) E K 424 rs730881041 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37429 Q07889 (SOS1) W R 432 rs267607080 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37430 Q07889 (SOS1) E K 433 rs397517147 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37431 Q07889 (SOS1) G K 434 rs730881048 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37432 Q07889 (SOS1) G R 434 rs397517148 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37433 Q07889 (SOS1) I T 437 rs397517150 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37434 Q07889 (SOS1) C Y 441 rs727504295 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37435 Q07889 (SOS1) Q R 477 rs730881044 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37436 Q07889 (SOS1) P L 478 rs1553356111 Benign
37437 Q07889 (SOS1) P R 478 - Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37438 Q07889 (SOS1) G R 482 rs1431574387 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37439 Q07889 (SOS1) L R 490 - Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37440 Q07889 (SOS1) R Q 497 rs371314838 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37441 Q07889 (SOS1) S R 548 rs397517149 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37442 Q07889 (SOS1) T K 549 rs730881046 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37443 Q07889 (SOS1) L P 550 rs397517153 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37444 Q07889 (SOS1) R G 552 rs137852814 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37445 Q07889 (SOS1) R K 552 rs397517154 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37446 Q07889 (SOS1) R M 552 rs397517154 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37447 Q07889 (SOS1) R S 552 rs267607079 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37448 Q07889 (SOS1) R T 552 rs397517154 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37449 Q07889 (SOS1) L V 569 rs200786705 Benign
37450 Q07889 (SOS1) F I 623 - Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37451 Q07889 (SOS1) P L 655 rs56219475 Benign
37452 Q07889 (SOS1) Y H 702 rs727505381 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37453 Q07889 (SOS1) A T 708 rs140811086 Benign
37454 Q07889 (SOS1) W L 729 - Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37455 Q07889 (SOS1) I F 733 rs574088829 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37456 Q07889 (SOS1) I T 784 rs1335137808 Benign
37457 Q07889 (SOS1) E K 846 rs397517159 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37458 Q07889 (SOS1) P R 894 rs1367714753 Disease: Noonan syndrome 4 (NS4) [MIM:610733]
37459 Q07889 (SOS1) Q R 977 - Benign
37460 Q07889 (SOS1) N S 1011 rs8192671 Benign
37461 Q07889 (SOS1) R K 1131 rs768113420 Benign
37462 Q07889 (SOS1) L I 1140 rs375550588 Benign
37463 Q07889 (SOS1) T A 1257 rs553805862 Benign
37464 Q07889 (SOS1) H R 1320 - Benign
37465 Q07890 (SOS2) M K 267 rs797045167 Disease: Noonan syndrome 9 (NS9) [MIM:616559]
37466 Q07890 (SOS2) T S 376 rs869320687 Disease: Noonan syndrome 9 (NS9) [MIM:616559]
37467 Q07890 (SOS2) T A 449 rs768547025 Benign
37468 Q07890 (SOS2) S N 483 rs17122201 Benign
37469 Q07890 (SOS2) H Y 508 rs8010237 Benign
37470 Q07890 (SOS2) L I 672 rs34139502 Benign
37471 Q07890 (SOS2) D N 952 rs200387871 Benign
37472 Q07912 (TNK2) K R 71 rs56036945 Benign
37473 Q07912 (TNK2) R W 99 rs3747673 Benign
37474 Q07912 (TNK2) T M 152 rs56161912 Benign
37475 Q07912 (TNK2) P S 507 rs35759128 Benign
37476 Q07912 (TNK2) P L 725 rs56260729 Benign
37477 Q07912 (TNK2) R Q 748 rs57872314 Benign
37478 Q07912 (TNK2) P L 802 rs3749333 Benign
37479 Q07912 (TNK2) R H 1038 rs13433937 Benign
37480 Q07954 (LRP1) N D 166 rs2306691 Benign
37481 Q07954 (LRP1) A V 217 rs1800127 Benign
37482 Q07954 (LRP1) K R 1245 rs483353013 Disease: Keratosis pilaris atrophicans (KPA) [MIM:604093]
37483 Q07954 (LRP1) V L 2059 rs2229278 Benign
37484 Q07954 (LRP1) D N 2080 rs34577247 Benign
37485 Q07954 (LRP1) Q P 2900 rs7397167 Benign
37486 Q07954 (LRP1) E G 4536 rs17357542 Benign
37487 Q07960 (ARHGAP1) R C 369 rs11822837 Benign
37488 Q07973 (CYP24A1) R Q 157 rs35051736 Benign
37489 Q07973 (CYP24A1) R Q 159 rs387907322 Disease: Hypercalcemi a, infantile, 1 (HCINF1) [MIM:143880]
37490 Q07973 (CYP24A1) E K 322 rs387907324 Disease: Hypercalcemi a, infantile, 1 (HCINF1) [MIM:143880]
37491 Q07973 (CYP24A1) M T 374 rs6022990 Benign
37492 Q07973 (CYP24A1) R W 396 rs114368325 Disease: Hypercalcemi a, infantile, 1 (HCINF1) [MIM:143880]
37493 Q07973 (CYP24A1) L S 409 rs6068812 Disease: Hypercalcemi a, infantile, 1 (HCINF1) [MIM:143880]
37494 Q08043 (ACTN3) R Q 523 rs1671064 Benign
37495 Q08043 (ACTN3) C R 628 rs618838 Benign
37496 Q08043 (ACTN3) E A 635 rs2229456 Benign
37497 Q08043 (ACTN3) Q R 776 rs540874 Benign
37498 Q08050 (FOXM1) A E 402 rs28990715 Benign
37499 Q08050 (FOXM1) F L 450 rs28919868 Benign
37500 Q08050 (FOXM1) S P 643 rs3742076 Benign
37501 Q08050 (FOXM1) P R 669 rs28919869 Benign
37502 Q08050 (FOXM1) P L 673 rs28919870 Benign
37503 Q08117 (TLE5) A E 168 rs1802578 Benign
37504 Q08170 (SRSF4) E D 253 rs2230679 Benign
37505 Q08170 (SRSF4) G A 338 rs2230677 Benign
37506 Q08170 (SRSF4) G S 356 rs2230678 Benign
37507 Q08170 (SRSF4) Q E 438 rs1049928 Benign
37508 Q08174 (PCDH1) L F 15 rs12517385 Benign
37509 Q08174 (PCDH1) H P 25 rs12515587 Benign
37510 Q08174 (PCDH1) A T 514 rs3822357 Benign
37511 Q08188 (TGM3) T K 13 rs214803 Benign
37512 Q08188 (TGM3) I L 163 rs6048066 Benign
37513 Q08188 (TGM3) S N 249 rs214814 Benign
37514 Q08188 (TGM3) K R 562 rs1042617 Benign
37515 Q08188 (TGM3) G R 654 rs214830 Benign
37516 Q08188 (TGM3) L M 687 rs45581032 Benign
37517 Q08209 (PPP3CA) H R 92 rs1553925558 Disease: Epileptic encephalopat hy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
37518 Q08209 (PPP3CA) N I 150 - Disease: Epileptic encephalopat hy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
37519 Q08209 (PPP3CA) D E 234 - Disease: Epileptic encephalopat hy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
37520 Q08209 (PPP3CA) H Q 281 - Disease: Epileptic encephalopat hy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
37521 Q08209 (PPP3CA) E K 282 rs1553923787 Disease: Epileptic encephalopat hy, infantile or early childhood, 1 (IECEE1) [MIM:617711]
37522 Q08209 (PPP3CA) F L 470 - Disease: Arthrogrypos is, cleft palate, craniosynost osis, and impaired intellectual development (ACCIID) [MIM:618265]
37523 Q08209 (PPP3CA) A T 473 - Disease: Arthrogrypos is, cleft palate, craniosynost osis, and impaired intellectual development (ACCIID) [MIM:618265]
37524 Q08211 (DHX9) I V 894 rs1049264 Benign
37525 Q08257 (CRYZ) P S 66 rs11551729 Benign
37526 Q08257 (CRYZ) I V 176 rs3819946 Benign
37527 Q08257 (CRYZ) E K 183 rs17095822 Benign
37528 Q08334 (IL10RB) K E 47 rs2834167 Benign
37529 Q08345 (DDR1) S G 17 rs55901302 Benign
37530 Q08345 (DDR1) V A 100 rs34544756 Benign
37531 Q08345 (DDR1) R Q 169 rs55980643 Benign
37532 Q08345 (DDR1) A D 170 rs56231803 Benign
37533 Q08345 (DDR1) R W 306 rs56024191 Benign
37534 Q08345 (DDR1) L V 833 rs2524235 Benign
37535 Q08357 (SLC20A2) I L 11 rs201836672 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37536 Q08357 (SLC20A2) D N 28 rs1554561099 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37537 Q08357 (SLC20A2) A V 51 - Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37538 Q08357 (SLC20A2) L P 62 - Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37539 Q08357 (SLC20A2) R H 71 - Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37540 Q08357 (SLC20A2) T M 115 rs775911275 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37541 Q08357 (SLC20A2) R Q 382 rs200010919 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37542 Q08357 (SLC20A2) S W 434 rs1357615935 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37543 Q08357 (SLC20A2) G R 498 - Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37544 Q08357 (SLC20A2) H Q 502 - Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37545 Q08357 (SLC20A2) P L 568 rs763252801 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37546 Q08357 (SLC20A2) G S 571 rs1388992742 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37547 Q08357 (SLC20A2) E K 575 rs387906653 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37548 Q08357 (SLC20A2) T M 595 rs387906654 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37549 Q08357 (SLC20A2) S L 601 rs387906652 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37550 Q08357 (SLC20A2) S W 601 rs387906652 Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37551 Q08357 (SLC20A2) S R 637 - Disease: Basal ganglia calcificatio n, idiopathic, 1 (IBGC1) [MIM:213600]
37552 Q08378 (GOLGA3) G E 70 rs2291256 Benign
37553 Q08378 (GOLGA3) P L 264 rs3741486 Benign
37554 Q08378 (GOLGA3) K R 1185 rs2291260 Benign
37555 Q08379 (GOLGA2) R G 902 rs2240961 Benign
37556 Q08397 (LOXL1) R L 141 rs1048661 Benign
37557 Q08397 (LOXL1) G D 153 rs3825942 Benign
37558 Q08426 (EHHADH) E K 3 rs398124646 Disease: Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605]
37559 Q08426 (EHHADH) V G 40 rs1062551 Benign
37560 Q08426 (EHHADH) I R 41 rs1062552 Benign
37561 Q08426 (EHHADH) T I 75 rs1062553 Benign
37562 Q08426 (EHHADH) A T 274 rs2302819 Benign
37563 Q08426 (EHHADH) A G 325 rs1062555 Benign
37564 Q08426 (EHHADH) K T 598 rs1042437 Benign
37565 Q08426 (EHHADH) T P 606 rs1042438 Benign
37566 Q08426 (EHHADH) Q K 685 rs11919970 Benign
37567 Q08426 (EHHADH) L S 715 rs11927618 Benign
37568 Q08431 (MFGE8) R S 3 rs4945 Benign
37569 Q08431 (MFGE8) L M 76 rs1878326 Benign
37570 Q08462 (ADCY2) V L 147 rs13166360 Benign
37571 Q08462 (ADCY2) V I 163 rs34043481 Benign
37572 Q08477 (CYP4F3) H Q 96 rs34923393 Benign
37573 Q08477 (CYP4F3) Y C 106 rs35888783 Benign
37574 Q08477 (CYP4F3) A D 269 rs1805040 Benign
37575 Q08477 (CYP4F3) V I 270 rs28371536 Benign
37576 Q08477 (CYP4F3) I T 271 rs28371479 Benign
37577 Q08493 (PDE4C) S L 131 rs10413646 Benign
37578 Q08493 (PDE4C) R Q 289 rs34503849 Benign
37579 Q08493 (PDE4C) R Q 344 rs2229228 Benign
37580 Q08493 (PDE4C) R W 344 rs11879710 Benign
37581 Q08499 (PDE4D) S A 190 rs397514466 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37582 Q08499 (PDE4D) P T 225 rs397514464 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37583 Q08499 (PDE4D) F S 226 rs397514465 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37584 Q08499 (PDE4D) A S 227 - Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37585 Q08499 (PDE4D) Q E 228 rs397514468 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37586 Q08499 (PDE4D) S T 301 - Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37587 Q08499 (PDE4D) A V 304 rs397515433 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37588 Q08499 (PDE4D) V A 329 - Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37589 Q08499 (PDE4D) T P 587 rs397514467 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37590 Q08499 (PDE4D) E A 590 - Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37591 Q08499 (PDE4D) G D 673 rs397514469 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37592 Q08499 (PDE4D) I T 678 rs587777188 Disease: Acrodysostos is 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
37593 Q08554 (DSC1) S F 93 rs35338395 Benign
37594 Q08554 (DSC1) V I 460 rs17800159 Benign
37595 Q08554 (DSC1) C F 848 rs985861 Benign
37596 Q08623 (PUDP) T M 88 rs1131197 Benign
37597 Q08623 (PUDP) P A 165 rs3747386 Benign
37598 Q08648 (SPAG11B) R Q 77 rs2853658 Benign
37599 Q08648 (SPAG11B) D G 89 rs2738035 Benign
37600 Q08708 (CD300C) T I 71 rs11870245 Benign
37601 Q08752 (PPID) R C 49 rs2070631 Benign
37602 Q08752 (PPID) D V 196 rs2230222 Benign
37603 Q08752 (PPID) L I 302 rs9410 Benign
37604 Q08752 (PPID) G E 335 rs17843956 Benign
37605 Q08828 (ADCY1) P L 456 rs12721473 Benign
37606 Q08828 (ADCY1) A T 940 rs45444695 Benign
37607 Q08828 (ADCY1) V M 984 rs2293106 Benign
37608 Q08830 (FGL1) T I 15 rs484373 Benign
37609 Q08830 (FGL1) I V 72 rs3739406 Benign
37610 Q08830 (FGL1) P L 105 rs2653406 Benign
37611 Q08830 (FGL1) Y H 111 rs34019703 Benign
37612 Q08830 (FGL1) M V 114 rs35311020 Benign
37613 Q08830 (FGL1) T S 121 rs34239530 Benign
37614 Q08830 (FGL1) Y F 140 rs35431851 Benign
37615 Q08830 (FGL1) W L 256 rs2653414 Benign
37616 Q08881 (ITK) R Q 193 rs17054374 Benign
37617 Q08881 (ITK) R W 335 rs121908191 Disease: Lymphoprolif erative syndrome 1 (LPFS1) [MIM:613011]
37618 Q08881 (ITK) R W 581 rs34482255 Benign
37619 Q08881 (ITK) V I 587 rs56005928 Benign
37620 Q08945 (SSRP1) L V 225 rs768436 Benign
37621 Q08945 (SSRP1) E Q 458 rs11540304 Benign
37622 Q08999 (RBL2) V F 99 - Benign
37623 Q08999 (RBL2) Y C 210 rs17800727 Benign
37624 Q08AD1 (CAMSAP2) P L 958 rs3753952 Benign
37625 Q08AD1 (CAMSAP2) P L 969 rs3753952 Benign
37626 Q08AD1 (CAMSAP2) R P 1028 rs6674599 Benign
37627 Q08AD1 (CAMSAP2) P R 1039 rs6674599 Benign
37628 Q08AE8 (SPIRE1) Q P 249 rs1785296 Benign
37629 Q08AF3 (SLFN5) V L 754 rs16970806 Benign
37630 Q08AF3 (SLFN5) P L 787 rs11651240 Benign
37631 Q08AF3 (SLFN5) A V 797 rs2291189 Benign
37632 Q08AG5 (ZNF844) V M 113 rs12611158 Benign
37633 Q08AG5 (ZNF844) R H 146 rs10422576 Benign
37634 Q08AG5 (ZNF844) K E 226 rs7259684 Benign
37635 Q08AG5 (ZNF844) T A 276 rs7259845 Benign
37636 Q08AG5 (ZNF844) A P 308 rs6511763 Benign
37637 Q08AG5 (ZNF844) V A 329 rs8102258 Benign
37638 Q08AG5 (ZNF844) M L 584 rs1438694 Benign
37639 Q08AG5 (ZNF844) I M 642 rs10426017 Benign
37640 Q08AG5 (ZNF844) V I 658 rs55703333 Benign
37641 Q08AG7 (MZT1) S G 5 rs1465896 Benign
37642 Q08AH1 (ACSM1) I M 272 rs16970511 Benign
37643 Q08AH1 (ACSM1) I V 479 rs8056709 Benign
37644 Q08AH1 (ACSM1) I T 515 rs16970453 Benign
37645 Q08AH3 (ACSM2A) V L 335 rs4643305 Benign
37646 Q08AH3 (ACSM2A) V G 337 rs4586421 Benign
37647 Q08AH3 (ACSM2A) S L 513 rs1133607 Benign
37648 Q08AH3 (ACSM2A) A T 561 rs1054977 Benign
37649 Q08AI6 (SLC38A11) A T 194 rs4564790 Benign
37650 Q08AI8 (MAB21L4) A T 170 rs4359646 Benign
37651 Q08AI8 (MAB21L4) L P 309 rs6707568 Benign
37652 Q08AM6 (VAC14) W L 424 rs762388639 Disease: Striatonigra l degeneration , childhood- onset (SNDC) [MIM:617054]
37653 Q08AM6 (VAC14) A S 582 rs749094914 Disease: Striatonigra l degeneration , childhood- onset (SNDC) [MIM:617054]
37654 Q08AM6 (VAC14) S L 583 rs879255645 Disease: Striatonigra l degeneration , childhood- onset (SNDC) [MIM:617054]
37655 Q08AN1 (ZNF616) P S 50 rs35582075 Benign
37656 Q08AN1 (ZNF616) H R 451 rs3764537 Benign
37657 Q08ER8 (ZNF543) P A 55 rs6510057 Benign
37658 Q08ER8 (ZNF543) Q R 107 rs8100491 Benign
37659 Q08ER8 (ZNF543) L H 246 rs1968090 Benign
37660 Q08ER8 (ZNF543) E V 287 rs35238720 Benign
37661 Q08ER8 (ZNF543) V D 439 rs10411486 Benign
37662 Q08ER8 (ZNF543) M V 573 rs10410649 Benign
37663 Q08J23 (NSUN2) V I 627 rs2303708 Benign
37664 Q08J23 (NSUN2) G R 679 rs587776908 Disease: Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091]
37665 Q09013 (DMPK) L V 423 rs527221 Benign
37666 Q09428 (ABCC8) G R 7 rs781059815 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37667 Q09428 (ABCC8) V D 21 rs200670692 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37668 Q09428 (ABCC8) F S 27 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37669 Q09428 (ABCC8) P L 45 rs267606623 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37670 Q09428 (ABCC8) G E 70 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37671 Q09428 (ABCC8) N S 72 rs80356634 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37672 Q09428 (ABCC8) R Q 74 rs72559734 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37673 Q09428 (ABCC8) R W 74 rs201682634 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37674 Q09428 (ABCC8) V A 86 rs193929360 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37675 Q09428 (ABCC8) V G 86 rs193929360 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37676 Q09428 (ABCC8) L V 104 rs10400391 Benign
37677 Q09428 (ABCC8) G R 111 rs761749884 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37678 Q09428 (ABCC8) A P 116 rs72559731 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37679 Q09428 (ABCC8) H Q 125 rs60637558 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37680 Q09428 (ABCC8) F L 132 rs80356637 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37681 Q09428 (ABCC8) F V 132 rs80356637 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37682 Q09428 (ABCC8) V D 187 rs137852672 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37683 Q09428 (ABCC8) N S 188 rs797045213 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37684 Q09428 (ABCC8) P S 207 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37685 Q09428 (ABCC8) E K 208 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37686 Q09428 (ABCC8) D E 209 rs80356640 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37687 Q09428 (ABCC8) Q K 211 rs193929366 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37688 Q09428 (ABCC8) L R 213 rs80356642 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37689 Q09428 (ABCC8) L P 225 rs1048095 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37690 Q09428 (ABCC8) T I 229 rs768017509 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37691 Q09428 (ABCC8) M R 233 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37692 Q09428 (ABCC8) Y D 263 rs778892038 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37693 Q09428 (ABCC8) R Q 275 rs185040406 Benign
37694 Q09428 (ABCC8) D N 310 rs769569410 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37695 Q09428 (ABCC8) E K 382 rs80356651 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37696 Q09428 (ABCC8) N D 406 rs72559728 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37697 Q09428 (ABCC8) C R 418 rs67254669 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37698 Q09428 (ABCC8) C R 435 - Disease: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
37699 Q09428 (ABCC8) R Q 495 rs1420601296 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37700 Q09428 (ABCC8) E K 501 rs372307320 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37701 Q09428 (ABCC8) L P 503 rs1554933168 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37702 Q09428 (ABCC8) L P 508 rs72559727 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37703 Q09428 (ABCC8) L M 511 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37704 Q09428 (ABCC8) P R 551 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37705 Q09428 (ABCC8) V M 560 rs4148619 Benign
37706 Q09428 (ABCC8) L V 582 rs137852674 Disease: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
37707 Q09428 (ABCC8) F L 591 rs72559726 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37708 Q09428 (ABCC8) R C 620 rs58241708 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37709 Q09428 (ABCC8) D N 673 rs777986828 Benign
37710 Q09428 (ABCC8) F S 686 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37711 Q09428 (ABCC8) G D 716 rs72559723 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37712 Q09428 (ABCC8) G V 716 rs72559723 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37713 Q09428 (ABCC8) K T 719 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37714 Q09428 (ABCC8) D N 810 rs767572066 Benign
37715 Q09428 (ABCC8) E K 824 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37716 Q09428 (ABCC8) R C 834 rs140068774 Benign
37717 Q09428 (ABCC8) R G 841 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37718 Q09428 (ABCC8) K T 889 rs761862121 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37719 Q09428 (ABCC8) L P 890 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37720 Q09428 (ABCC8) S F 956 rs72559721 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37721 Q09428 (ABCC8) H Y 1023 - Disease: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
37722 Q09428 (ABCC8) T P 1130 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37723 Q09428 (ABCC8) T M 1138 rs201351976 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37724 Q09428 (ABCC8) L R 1147 rs1262517518 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37725 Q09428 (ABCC8) R Q 1182 rs193922400 Disease: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
37726 Q09428 (ABCC8) A E 1184 rs137852675 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37727 Q09428 (ABCC8) R Q 1214 rs367850779 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37728 Q09428 (ABCC8) R W 1214 rs139964066 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37729 Q09428 (ABCC8) N K 1295 rs542157938 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37730 Q09428 (ABCC8) E K 1326 rs200563930 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37731 Q09428 (ABCC8) K N 1336 rs67767715 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37732 Q09428 (ABCC8) G E 1342 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37733 Q09428 (ABCC8) L Q 1349 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37734 Q09428 (ABCC8) R H 1352 rs28936370 Disease: Leucine- induced hypoglycemia (LIH) [MIM:240800]
37735 Q09428 (ABCC8) R P 1352 rs28936370 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37736 Q09428 (ABCC8) V G 1360 - Benign
37737 Q09428 (ABCC8) V M 1360 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37738 Q09428 (ABCC8) A S 1369 rs757110 Benign
37739 Q09428 (ABCC8) G R 1378 rs925231098 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37740 Q09428 (ABCC8) G S 1378 rs925231098 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37741 Q09428 (ABCC8) R C 1379 rs137852673 Disease: Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
37742 Q09428 (ABCC8) G S 1381 rs773448052 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37743 Q09428 (ABCC8) K Q 1384 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37744 Q09428 (ABCC8) S F 1386 rs72559718 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37745 Q09428 (ABCC8) S Y 1388 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37746 Q09428 (ABCC8) L P 1389 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37747 Q09428 (ABCC8) R H 1393 rs769279368 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37748 Q09428 (ABCC8) G R 1400 rs137852676 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37749 Q09428 (ABCC8) R H 1418 rs1446306735 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37750 Q09428 (ABCC8) R C 1420 rs28938469 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37751 Q09428 (ABCC8) I V 1424 rs80356653 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37752 Q09428 (ABCC8) R Q 1436 rs387906407 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37753 Q09428 (ABCC8) L P 1450 rs1554904565 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37754 Q09428 (ABCC8) A T 1457 rs72559717 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37755 Q09428 (ABCC8) A V 1457 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37756 Q09428 (ABCC8) D H 1471 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37757 Q09428 (ABCC8) D N 1471 rs72559716 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37758 Q09428 (ABCC8) G R 1478 rs72559715 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37759 Q09428 (ABCC8) N I 1480 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37760 Q09428 (ABCC8) R K 1486 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37761 Q09428 (ABCC8) R Q 1493 rs746480424 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37762 Q09428 (ABCC8) R W 1493 rs28936371 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37763 Q09428 (ABCC8) D E 1505 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37764 Q09428 (ABCC8) E K 1506 rs137852671 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37765 Q09428 (ABCC8) I S 1511 - Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37766 Q09428 (ABCC8) V L 1522 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
37767 Q09428 (ABCC8) L P 1543 rs72559713 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37768 Q09428 (ABCC8) V D 1550 rs1221760584 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37769 Q09428 (ABCC8) L V 1551 rs1320740169 Disease: Familial hyperinsulin emic hypoglycemia 1 (HHF1) [MIM:256450]
37770 Q09428 (ABCC8) V I 1572 rs8192690 Benign
37771 Q09470 (KCNA1) V F 174 rs104894349 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37772 Q09470 (KCNA1) I R 177 - Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37773 Q09470 (KCNA1) F C 184 rs104894357 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37774 Q09470 (KCNA1) R H 204 rs2229000 Benign
37775 Q09470 (KCNA1) T A 226 rs104894354 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37776 Q09470 (KCNA1) T K 226 rs28933383 Disease: Myokymia isolated 1 (MK1) [MIM:160120]
37777 Q09470 (KCNA1) T M 226 rs28933383 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37778 Q09470 (KCNA1) T R 226 rs28933383 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37779 Q09470 (KCNA1) R S 239 rs104894348 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37780 Q09470 (KCNA1) A P 242 rs28933381 Disease: Myokymia isolated 1 (MK1) [MIM:160120]
37781 Q09470 (KCNA1) P H 244 rs28933382 Disease: Myokymia isolated 1 (MK1) [MIM:160120]
37782 Q09470 (KCNA1) F I 249 rs104894356 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37783 Q09470 (KCNA1) N D 255 rs121918067 Disease: Myokymia isolated 1 (MK1) [MIM:160120]
37784 Q09470 (KCNA1) E D 325 rs104894353 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37785 Q09470 (KCNA1) L I 329 - Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37786 Q09470 (KCNA1) S I 342 - Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37787 Q09470 (KCNA1) V I 404 rs104894355 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37788 Q09470 (KCNA1) P L 405 rs1555085798 Disease: -
37789 Q09470 (KCNA1) V A 408 rs104894352 Disease: Episodic ataxia 1 (EA1) [MIM:160120]
37790 Q09472 (EP300) M V 289 rs2230111 Benign
37791 Q09472 (EP300) I V 997 rs20551 Benign
37792 Q09472 (EP300) N I 1511 - Benign
37793 Q09472 (EP300) Q P 1824 - Disease: Menke- Hennekam syndrome 2 (MKHK2) [MIM:618333]
37794 Q09472 (EP300) T S 2174 rs5758252 Benign
37795 Q09472 (EP300) Q P 2223 rs1046088 Benign
37796 Q09666 (AHNAK) G V 962 rs664761 Benign
37797 Q09666 (AHNAK) A T 2114 rs1298288 Benign
37798 Q09666 (AHNAK) K T 2247 rs61524789 Benign
37799 Q09666 (AHNAK) P L 2439 rs11824660 Benign
37800 Q09666 (AHNAK) Q K 3003 rs566144 Benign
37801 Q09666 (AHNAK) V I 3190 rs11231129 Benign
37802 Q09666 (AHNAK) S P 3724 rs11231128 Benign
37803 Q09666 (AHNAK) D G 4304 rs11828907 Benign
37804 Q09666 (AHNAK) G D 4561 rs12795508 Benign
37805 Q09666 (AHNAK) M V 4611 rs12801302 Benign
37806 Q09666 (AHNAK) I V 4613 rs12801153 Benign
37807 Q09666 (AHNAK) D G 4631 rs12801123 Benign
37808 Q09666 (AHNAK) T A 5415 rs11231126 Benign
37809 Q09FC8 (ZNF415) H P 196 rs16984466 Benign
37810 Q09FC8 (ZNF415) I L 229 rs1054485 Benign
37811 Q09FC8 (ZNF415) I V 233 rs1133327 Benign
37812 Q09FC8 (ZNF415) Y C 241 rs1560099 Benign
37813 Q09FC8 (ZNF415) N D 463 rs10410030 Benign
37814 Q09MP3 (RAD51AP2) V L 876 rs17380212 Benign
37815 Q09MP3 (RAD51AP2) R H 976 rs17314548 Benign
37816 Q09MP3 (RAD51AP2) G D 1037 rs834514 Benign
37817 Q0D2J5 (ZNF763) Y H 324 rs7254529 Benign
37818 Q0D2J5 (ZNF763) Y H 327 rs7254529 Benign
37819 Q0D2K0 (NIPAL4) S R 135 rs376803325 Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37820 Q0D2K0 (NIPAL4) G V 142 rs775903553 Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37821 Q0D2K0 (NIPAL4) A D 176 rs199422217 Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37822 Q0D2K0 (NIPAL4) S F 208 - Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37823 Q0D2K0 (NIPAL4) G R 230 rs370356566 Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37824 Q0D2K0 (NIPAL4) H N 237 - Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37825 Q0D2K0 (NIPAL4) G R 297 rs375688767 Disease: Ichthyosis, congenital, autosomal recessive 6 (ARCI6) [MIM:612281]
37826 Q0D2K5 (EGFEM1P) G D 59 rs603638 Benign
37827 Q0D2K5 (EGFEM1P) P L 157 rs678690 Benign
37828 Q0GE19 (SLC10A7) L P 74 - Disease: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363]
37829 Q0GE19 (SLC10A7) G D 112 - Disease: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363]
37830 Q0GE19 (SLC10A7) P L 303 - Disease: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) [MIM:618363]
37831 Q0IIM8 (TBC1D8B) Q H 246 rs761410195 Disease: Nephrotic syndrome 20 (NPHS20) [MIM:301028]
37832 Q0IIM8 (TBC1D8B) F S 291 - Disease: Nephrotic syndrome 20 (NPHS20) [MIM:301028]
37833 Q0IIN9 (ZNF252P-A) L I 84 rs2294043 Benign
37834 Q0JRZ9 (FCHO2) M V 371 rs185435 Benign
37835 Q0P5N6 (ARL16) S R 10 rs8066889 Benign
37836 Q0P641 (C2orf80) R H 82 rs11898181 Benign
37837 Q0P641 (C2orf80) C R 130 rs6435421 Benign
37838 Q0P641 (C2orf80) S G 152 rs10804166 Benign
37839 Q0P670 (SPEM2) S A 108 rs13290 Benign
37840 Q0P670 (SPEM2) Q R 376 rs3892554 Benign
37841 Q0P6D6 (CCDC15) F C 166 - Benign
37842 Q0P6D6 (CCDC15) G D 529 rs4936966 Benign
37843 Q0P6D6 (CCDC15) C R 813 rs7107487 Benign
37844 Q0VAF6 (SYCN) L M 111 rs2082416 Benign
37845 Q0VAK6 (LMOD3) R H 83 rs35740823 Benign
37846 Q0VAK6 (LMOD3) I T 263 rs9835034 Benign
37847 Q0VAK6 (LMOD3) G R 326 - Disease: Nemaline myopathy 10 (NEM10) [MIM:616165]
37848 Q0VAK6 (LMOD3) K M 438 rs6810145 Benign
37849 Q0VAK6 (LMOD3) A V 560 rs17005363 Benign
37850 Q0VD83 (APOBR) P A 428 rs180743 Benign
37851 Q0VDD7 (C19orf57) G R 267 rs2305775 Benign
37852 Q0VDD7 (C19orf57) Q R 500 rs3803892 Benign
37853 Q0VDD8 (DNAH14) T S 220 rs41267347 Benign
37854 Q0VDD8 (DNAH14) P L 274 rs41267349 Benign
37855 Q0VDD8 (DNAH14) K E 2671 rs6667999 Benign
37856 Q0VDG4 (SCRN3) D N 18 rs10497410 Benign
37857 Q0VDG4 (SCRN3) L S 108 - Benign
37858 Q0VDG4 (SCRN3) V A 179 rs6716400 Benign
37859 Q0VF96 (CGNL1) T P 380 rs1280395 Benign
37860 Q0VF96 (CGNL1) S F 459 rs7182648 Benign
37861 Q0VF96 (CGNL1) T A 511 rs1280396 Benign
37862 Q0VF96 (CGNL1) L V 1101 rs1620402 Benign
37863 Q0VF96 (CGNL1) M V 1270 rs16977594 Benign
37864 Q0VG06 (FAAP100) P L 660 rs11552304 Benign
37865 Q0VG06 (FAAP100) T A 817 rs14422 Benign
37866 Q0VG73 (-) S R 19 rs12629299 Benign
37867 Q0VG73 (-) I M 63 rs10936873 Benign
37868 Q0VG99 (MESP2) A G 66 rs71647809 Benign
37869 Q0VG99 (MESP2) L V 125 rs71647806 Benign
37870 Q0VG99 (MESP2) V M 138 rs28462216 Benign
37871 Q0VG99 (MESP2) S F 224 rs71647807 Benign
37872 Q0VGE8 (ZNF816) I N 80 rs12459008 Benign
37873 Q0VGE8 (ZNF816) S L 162 rs11084210 Benign
37874 Q0ZGT2 (NEXN) Q E 131 rs387907079 Disease: Cardiomyopat hy, familial hypertrophic 20 (CMH20) [MIM:613876]
37875 Q0ZGT2 (NEXN) G R 245 rs1166698 Benign
37876 Q0ZGT2 (NEXN) R C 279 rs146245480 Disease: Cardiomyopat hy, familial hypertrophic 20 (CMH20) [MIM:613876]
37877 Q0ZGT2 (NEXN) R K 335 rs9660322 Benign
37878 Q0ZGT2 (NEXN) P T 611 rs137853198 Disease: Cardiomyopat hy, dilated 1CC (CMD1CC) [MIM:613122]
37879 Q0ZGT2 (NEXN) Y C 652 rs137853197 Disease: Cardiomyopat hy, dilated 1CC (CMD1CC) [MIM:613122]
37880 Q0ZLH3 (PJVK) T I 54 rs118203988 Disease: Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
37881 Q0ZLH3 (PJVK) R W 183 rs111706634 Disease: Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
37882 Q0ZLH3 (PJVK) R C 265 rs17304212 Benign
37883 Q0ZLH3 (PJVK) C S 343 rs569088856 Disease: Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
37884 Q10469 (MGAT2) H R 262 rs104894447 Disease: Congenital disorder of glycosylatio n 2A (CDG2A) [MIM:212066]
37885 Q10469 (MGAT2) S F 290 rs104894446 Disease: Congenital disorder of glycosylatio n 2A (CDG2A) [MIM:212066]
37886 Q10469 (MGAT2) N D 318 rs104894448 Disease: Congenital disorder of glycosylatio n 2A (CDG2A) [MIM:212066]
37887 Q10471 (GALNT2) R H 245 rs1923950 Benign
37888 Q10471 (GALNT2) V M 554 rs2273970 Benign
37889 Q10472 (GALNT1) Y D 414 rs34304568 Benign
37890 Q10567 (AP1B1) C R 144 - Disease: Keratitis- ichthyosis- deafness syndrome, autosomal recessive (KIDAR) [MIM:242150]
37891 Q10567 (AP1B1) T A 777 rs2857465 Benign
37892 Q10571 (MN1) Q H 382 rs45589338 Benign
37893 Q10588 (BST1) A V 77 rs2302466 Benign
37894 Q10588 (BST1) I V 101 rs6840615 Benign
37895 Q10588 (BST1) R H 125 rs2302465 Benign
37896 Q10588 (BST1) R Q 145 rs2302464 Benign
37897 Q10589 (BST2) V F 143 rs1804402 Benign
37898 Q10713 (PMPCA) S L 96 rs869025292 Disease: Spinocerebel lar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
37899 Q10713 (PMPCA) V M 256 rs746549806 Disease: Spinocerebel lar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
37900 Q10713 (PMPCA) A T 377 rs753611141 Disease: Spinocerebel lar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
37901 Q10713 (PMPCA) G R 515 rs869025293 Disease: Spinocerebel lar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]
37902 Q10981 (FUT2) I V 25 rs1800021 Benign
37903 Q10981 (FUT2) R C 138 rs1800022 Benign
37904 Q10981 (FUT2) I F 140 rs1047781 Benign
37905 Q10981 (FUT2) D N 172 rs1800025 Benign
37906 Q10981 (FUT2) G S 258 rs602662 Benign
37907 Q11128 (FUT5) P L 187 rs778970 Benign
37908 Q11128 (FUT5) T M 338 rs4807054 Benign
37909 Q11130 (FUT7) R Q 110 rs545570871 Benign
37910 Q11201 (ST3GAL1) N S 111 rs116342938 Benign
37911 Q11203 (ST3GAL3) A D 13 rs387906943 Disease: Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]
37912 Q11203 (ST3GAL3) A P 320 - Disease: Epileptic encephalopat hy, early infantile, 15 (EIEE15) [MIM:615006]
37913 Q11203 (ST3GAL3) D Y 370 - Disease: Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]
37914 Q12756 (KIF1A) T M 46 rs182395595 Benign
37915 Q12756 (KIF1A) S L 58 rs672601362 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37916 Q12756 (KIF1A) S L 69 rs786200949 Disease: -
37917 Q12756 (KIF1A) T M 99 rs387906799 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37918 Q12756 (KIF1A) G D 102 rs672601363 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37919 Q12756 (KIF1A) G S 102 rs1064795534 Disease: -
37920 Q12756 (KIF1A) D N 136 rs374178011 Benign
37921 Q12756 (KIF1A) V F 144 rs672601364 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37922 Q12756 (KIF1A) R C 167 rs672601365 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37923 Q12756 (KIF1A) T I 187 rs370623844 Benign
37924 Q12756 (KIF1A) A P 202 rs672601366 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37925 Q12756 (KIF1A) V M 205 rs371039513 Benign
37926 Q12756 (KIF1A) S R 215 rs672601367 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37927 Q12756 (KIF1A) R C 216 rs797045164 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37928 Q12756 (KIF1A) R H 216 rs672601368 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37929 Q12756 (KIF1A) R P 216 rs672601368 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37930 Q12756 (KIF1A) V I 220 rs201314877 Benign
37931 Q12756 (KIF1A) E D 233 rs373882732 Benign
37932 Q12756 (KIF1A) L Q 249 rs672601371 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37933 Q12756 (KIF1A) E K 253 rs672601369 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37934 Q12756 (KIF1A) R W 316 rs672601370 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37935 Q12756 (KIF1A) I V 336 rs375423065 Benign
37936 Q12756 (KIF1A) R G 350 rs387907259 Disease: Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]
37937 Q12756 (KIF1A) R H 355 rs373042822 Benign
37938 Q12765 (SCRN1) S N 189 rs35960711 Benign
37939 Q12765 (SCRN1) Q R 338 rs17324153 Benign
37940 Q12767 (TMEM94) I T 1040 rs8073809 Benign
37941 Q12768 (WASHC5) I T 226 rs755285830 Disease: Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
37942 Q12768 (WASHC5) N D 471 rs80338865 Disease: Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
37943 Q12768 (WASHC5) L F 619 rs80338866 Disease: Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
37944 Q12768 (WASHC5) V A 620 - Disease: Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
37945 Q12768 (WASHC5) V F 626 rs80338867 Disease: Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
37946 Q12768 (WASHC5) G A 696 rs397515564 Disease: Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
37947 Q12769 (NUP160) A T 40 rs2305984 Benign
37948 Q12769 (NUP160) T A 351 rs3816605 Benign
37949 Q12770 (SCAP) V I 798 rs12487736 Benign
37950 Q12772 (SREBF2) M L 536 rs17002714 Benign
37951 Q12772 (SREBF2) G A 595 rs2228314 Benign
37952 Q12772 (SREBF2) V M 623 rs2229440 Benign
37953 Q12772 (SREBF2) R S 860 rs2228313 Benign
37954 Q12788 (TBL3) Q R 293 rs2230086 Benign
37955 Q12788 (TBL3) E Q 294 rs8052713 Benign
37956 Q12788 (TBL3) S P 457 rs17605 Benign
37957 Q12789 (GTF3C1) Q E 1889 rs35233306 Benign
37958 Q12789 (GTF3C1) F S 1959 rs12919017 Benign
37959 Q12789 (GTF3C1) E K 2077 rs2228248 Benign
37960 Q12791 (KCNMA1) G R 375 - Disease: Liang-Wang syndrome (LIWAS) [MIM:618729]
37961 Q12791 (KCNMA1) D G 434 rs137853333 Disease: Paroxysmal nonkinesigen ic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]
37962 Q12791 (KCNMA1) E K 884 - Disease: Paroxysmal nonkinesigen ic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]
37963 Q12791 (KCNMA1) N S 1053 rs886039469 Disease: Paroxysmal nonkinesigen ic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446]
37964 Q12794 (HYAL1) E K 268 rs104893743 Disease: Mucopolysacc haridosis 9 (MPS9) [MIM:601492]
37965 Q12796 (PNRC1) P L 252 rs2231277 Benign
37966 Q12797 (ASPH) R M 354 rs6995412 Benign
37967 Q12797 (ASPH) R W 735 rs374385878 Disease: Facial dysmorphism, lens dislocation, anterior segment abnormalitie s, and spontaneous filtering blebs (FDLAB) [MIM:601552]
37968 Q12799 (TCP10L3) G E 45 rs17855834 Benign
37969 Q12802 (AKAP13) M T 452 rs2061821 Benign
37970 Q12802 (AKAP13) W R 494 rs2061822 Benign
37971 Q12802 (AKAP13) K Q 526 rs34434221 Benign
37972 Q12802 (AKAP13) R C 574 rs2061824 Benign
37973 Q12802 (AKAP13) G V 624 rs745191 Benign
37974 Q12802 (AKAP13) E K 689 rs7177107 Benign
37975 Q12802 (AKAP13) V A 845 rs4075256 Benign
37976 Q12802 (AKAP13) V M 897 rs4075254 Benign
37977 Q12802 (AKAP13) P A 1062 rs4843074 Benign
37978 Q12802 (AKAP13) D N 1086 rs4843075 Benign
37979 Q12802 (AKAP13) M T 1216 rs7162168 Benign
37980 Q12802 (AKAP13) S G 1525 rs35079107 Benign
37981 Q12802 (AKAP13) G S 2457 rs2241268 Benign
37982 Q12802 (AKAP13) A T 2801 rs2614668 Benign
37983 Q12805 (EFEMP1) I F 220 rs748965004 Benign
37984 Q12805 (EFEMP1) R W 345 rs121434491 Disease: Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]
37985 Q12809 (KCNH2) S I 26 rs199472827 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37986 Q12809 (KCNH2) F L 29 rs199472830 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37987 Q12809 (KCNH2) I S 31 rs199472833 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37988 Q12809 (KCNH2) N T 33 rs199473487 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37989 Q12809 (KCNH2) G V 47 rs199473490 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37990 Q12809 (KCNH2) G R 53 rs199472842 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37991 Q12809 (KCNH2) S L 55 rs199472844 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37992 Q12809 (KCNH2) R Q 56 rs199472845 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37993 Q12809 (KCNH2) C Y 64 rs199473415 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37994 Q12809 (KCNH2) T P 65 rs121912511 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37995 Q12809 (KCNH2) C G 66 rs199473416 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37996 Q12809 (KCNH2) H R 70 rs199473419 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37997 Q12809 (KCNH2) T M 74 rs199473422 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37998 Q12809 (KCNH2) A P 78 rs199472848 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
37999 Q12809 (KCNH2) A V 85 rs199473494 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38000 Q12809 (KCNH2) L R 86 rs199472851 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38001 Q12809 (KCNH2) R G 100 rs121912515 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38002 Q12809 (KCNH2) R Q 100 rs199472855 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38003 Q12809 (KCNH2) R W 176 rs36210422 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38004 Q12809 (KCNH2) R Q 181 rs41308954 Benign
38005 Q12809 (KCNH2) G S 238 rs199473501 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38006 Q12809 (KCNH2) G W 306 rs199472884 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38007 Q12809 (KCNH2) S L 320 rs199472886 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38008 Q12809 (KCNH2) R C 328 rs199473505 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38009 Q12809 (KCNH2) P S 347 rs138776684 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38010 Q12809 (KCNH2) L P 413 rs199472893 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38011 Q12809 (KCNH2) Y C 420 rs199473507 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38012 Q12809 (KCNH2) T M 421 rs199472894 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38013 Q12809 (KCNH2) A T 422 rs199472895 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38014 Q12809 (KCNH2) Y H 427 rs199472898 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38015 Q12809 (KCNH2) Y S 427 rs199472897 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38016 Q12809 (KCNH2) T M 436 rs199472901 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38017 Q12809 (KCNH2) E D 444 rs9770044 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38018 Q12809 (KCNH2) P L 451 rs199472902 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38019 Q12809 (KCNH2) D Y 456 rs199473510 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38020 Q12809 (KCNH2) N D 470 rs121912505 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38021 Q12809 (KCNH2) T I 474 rs199472906 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38022 Q12809 (KCNH2) A T 490 rs28928905 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38023 Q12809 (KCNH2) K N 525 rs199472913 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38024 Q12809 (KCNH2) R P 528 rs199472914 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38025 Q12809 (KCNH2) R Q 531 rs199473515 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38026 Q12809 (KCNH2) R C 534 rs199472916 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38027 Q12809 (KCNH2) R L 534 rs199473516 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38028 Q12809 (KCNH2) L S 552 rs199472918 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38029 Q12809 (KCNH2) A P 558 rs121912516 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38030 Q12809 (KCNH2) L H 559 rs199472920 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38031 Q12809 (KCNH2) A T 561 rs199472921 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38032 Q12809 (KCNH2) A V 561 rs121912504 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38033 Q12809 (KCNH2) H P 562 rs199472922 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38034 Q12809 (KCNH2) L P 564 rs199472924 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38035 Q12809 (KCNH2) Y H 569 rs199473520 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38036 Q12809 (KCNH2) I L 571 rs199472928 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38037 Q12809 (KCNH2) G C 572 rs9333649 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38038 Q12809 (KCNH2) G D 572 rs199473423 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38039 Q12809 (KCNH2) G R 572 rs9333649 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38040 Q12809 (KCNH2) G S 572 rs9333649 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38041 Q12809 (KCNH2) R C 582 rs121912508 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38042 Q12809 (KCNH2) G S 584 rs199473428 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38043 Q12809 (KCNH2) N D 588 rs199473431 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38044 Q12809 (KCNH2) N K 588 rs104894021 Disease: Short QT syndrome 1 (SQT1) [MIM:609620]
38045 Q12809 (KCNH2) I R 593 rs28928904 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38046 Q12809 (KCNH2) I T 593 rs28928904 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38047 Q12809 (KCNH2) P R 596 rs199472933 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38048 Q12809 (KCNH2) G S 601 rs199472936 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38049 Q12809 (KCNH2) G S 604 rs199473522 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38050 Q12809 (KCNH2) D N 609 rs199472941 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38051 Q12809 (KCNH2) Y H 611 rs199472942 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38052 Q12809 (KCNH2) V L 612 rs199472943 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38053 Q12809 (KCNH2) T M 613 rs199473524 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38054 Q12809 (KCNH2) A V 614 rs199472944 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38055 Q12809 (KCNH2) L V 615 rs199472945 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38056 Q12809 (KCNH2) L F 622 rs199473525 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38057 Q12809 (KCNH2) T I 623 rs199472950 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38058 Q12809 (KCNH2) G S 626 rs199472953 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38059 Q12809 (KCNH2) F L 627 rs199473039 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38060 Q12809 (KCNH2) G S 628 rs121912507 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38061 Q12809 (KCNH2) G V 628 rs199472955 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38062 Q12809 (KCNH2) N D 629 rs199472956 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38063 Q12809 (KCNH2) N K 629 rs41307295 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38064 Q12809 (KCNH2) N S 629 rs199472957 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38065 Q12809 (KCNH2) V A 630 rs199473526 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38066 Q12809 (KCNH2) V L 630 rs199472958 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38067 Q12809 (KCNH2) P S 632 rs199473527 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38068 Q12809 (KCNH2) N S 633 rs199472961 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38069 Q12809 (KCNH2) N I 635 rs199472964 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38070 Q12809 (KCNH2) E D 637 rs199472966 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38071 Q12809 (KCNH2) E K 637 rs199472968 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38072 Q12809 (KCNH2) K E 638 rs199473528 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38073 Q12809 (KCNH2) F L 640 rs199472970 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38074 Q12809 (KCNH2) F V 640 rs199473529 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38075 Q12809 (KCNH2) S F 641 rs199472971 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38076 Q12809 (KCNH2) V F 644 rs199472972 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38077 Q12809 (KCNH2) M L 645 rs199472974 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38078 Q12809 (KCNH2) S L 660 rs199472979 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38079 Q12809 (KCNH2) R C 696 rs199472984 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38080 Q12809 (KCNH2) P L 721 rs199472986 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38081 Q12809 (KCNH2) R P 744 - Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38082 Q12809 (KCNH2) R Q 752 rs121912512 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38083 Q12809 (KCNH2) R W 752 rs199472990 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38084 Q12809 (KCNH2) D Y 774 rs199472995 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38085 Q12809 (KCNH2) R W 784 rs12720441 Benign
38086 Q12809 (KCNH2) E D 788 rs199473535 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38087 Q12809 (KCNH2) F C 805 rs199472999 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38088 Q12809 (KCNH2) F S 805 rs199472999 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38089 Q12809 (KCNH2) S L 818 rs121912510 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38090 Q12809 (KCNH2) G R 820 rs199473001 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38091 Q12809 (KCNH2) V M 822 rs121912506 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38092 Q12809 (KCNH2) D G 837 rs199473004 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38093 Q12809 (KCNH2) N I 861 rs121912513 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38094 Q12809 (KCNH2) R H 887 rs199473432 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38095 Q12809 (KCNH2) K T 897 rs1805123 Benign
38096 Q12809 (KCNH2) A V 913 rs77331749 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38097 Q12809 (KCNH2) P L 917 rs76420733 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38098 Q12809 (KCNH2) R W 922 rs199473440 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38099 Q12809 (KCNH2) G R 925 rs199473010 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38100 Q12809 (KCNH2) R C 948 rs121912514 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38101 Q12809 (KCNH2) T I 983 rs149955375 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38102 Q12809 (KCNH2) N I 996 rs199473018 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38103 Q12809 (KCNH2) P L 1016 rs41313074 Benign
38104 Q12809 (KCNH2) P S 1016 rs41307280 Benign
38105 Q12809 (KCNH2) P S 1020 rs41307274 Benign
38106 Q12809 (KCNH2) P L 1026 rs41307271 Benign
38107 Q12809 (KCNH2) G D 1036 rs199473022 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38108 Q12809 (KCNH2) R Q 1055 rs41307270 Benign
38109 Q12809 (KCNH2) M V 1115 rs199473546 Disease: Long QT syndrome 2 (LQT2) [MIM:613688]
38110 Q12816 (TRO) R W 65 rs60674633 Benign
38111 Q12816 (TRO) S G 738 rs17297490 Benign
38112 Q12816 (TRO) G S 951 rs1211752617 Benign
38113 Q12824 (SMARCB1) R C 366 rs886039520 Disease: Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
38114 Q12824 (SMARCB1) R Q 374 rs1057517825 Disease: Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
38115 Q12824 (SMARCB1) R H 377 rs387906812 Disease: Coffin-Siris syndrome 3 (CSS3) [MIM:614608]
38116 Q12830 (BPTF) A T 1924 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755]
38117 Q12830 (BPTF) M R 2996 - Disease: Neurodevelop mental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755]
38118 Q12834 (CDC20) V M 402 rs45443196 Benign
38119 Q12834 (CDC20) R Q 479 rs45461499 Benign
38120 Q12836 (ZP4) A V 114 rs34370253 Benign
38121 Q12836 (ZP4) P S 295 rs34811980 Benign
38122 Q12837 (POU4F2) I T 40 rs13152799 Benign
38123 Q12840 (KIF5A) Y C 63 - Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38124 Q12840 (KIF5A) M T 198 - Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38125 Q12840 (KIF5A) S C 203 - Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38126 Q12840 (KIF5A) R Q 204 rs387907287 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38127 Q12840 (KIF5A) E K 251 rs387907285 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38128 Q12840 (KIF5A) K N 253 - Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38129 Q12840 (KIF5A) N S 256 rs121434441 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38130 Q12840 (KIF5A) K N 257 - Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38131 Q12840 (KIF5A) Y C 276 rs121434443 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38132 Q12840 (KIF5A) R C 280 rs121434442 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38133 Q12840 (KIF5A) R H 280 rs387907288 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38134 Q12840 (KIF5A) R L 280 - Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38135 Q12840 (KIF5A) A V 361 rs121434444 Disease: Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]
38136 Q12840 (KIF5A) R G 1007 rs1555179087 Disease: Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921]
38137 Q12849 (GRSF1) D Y 277 rs17854012 Benign
38138 Q12852 (MAP3K12) G R 628 rs34366500 Benign
38139 Q12852 (MAP3K12) G S 640 rs55794887 Benign
38140 Q12860 (CNTN1) V L 798 rs1056020 Benign
38141 Q12860 (CNTN1) E G 824 rs11553341 Benign
38142 Q12864 (CDH17) K E 115 rs2243518 Benign
38143 Q12864 (CDH17) I T 446 rs1131829 Benign
38144 Q12864 (CDH17) E D 734 rs1051623 Benign
38145 Q12864 (CDH17) E A 739 rs1051624 Benign
38146 Q12866 (MERTK) R S 20 rs35898499 Benign
38147 Q12866 (MERTK) S N 118 rs13027171 Benign
38148 Q12866 (MERTK) V M 185 rs56205303 Benign
38149 Q12866 (MERTK) F V 214 rs1475870132 Benign
38150 Q12866 (MERTK) A T 282 rs7588635 Benign
38151 Q12866 (MERTK) E K 289 rs766215580 Benign
38152 Q12866 (MERTK) R H 293 rs34072093 Benign
38153 Q12866 (MERTK) N S 329 rs34943572 Benign
38154 Q12866 (MERTK) V L 452 rs34010621 Benign
38155 Q12866 (MERTK) R K 466 rs7604639 Benign
38156 Q12866 (MERTK) N S 498 rs35858762 Benign
38157 Q12866 (MERTK) I V 518 rs2230515 Benign
38158 Q12866 (MERTK) E K 540 rs113485015 Disease: Retinitis pigmentosa 38 (RP38) [MIM:613862]
38159 Q12866 (MERTK) S C 661 - Disease: Retinitis pigmentosa 38 (RP38) [MIM:613862]
38160 Q12866 (MERTK) Q E 662 rs56209758 Benign
38161 Q12866 (MERTK) E Q 823 rs55924349 Benign
38162 Q12866 (MERTK) R W 865 rs2230516 Benign
38163 Q12866 (MERTK) V I 870 rs2230517 Benign
38164 Q12866 (MERTK) I V 871 - Benign
38165 Q12866 (MERTK) I T 871 rs377341255 Disease: Retinitis pigmentosa 38 (RP38) [MIM:613862]
38166 Q12866 (MERTK) P L 958 rs201460398 Benign
38167 Q12872 (SFSWAP) L Q 52 rs1051207 Benign
38168 Q12872 (SFSWAP) L F 122 rs1051314 Benign
38169 Q12872 (SFSWAP) L F 136 rs1131564 Benign
38170 Q12872 (SFSWAP) L P 421 rs1982528 Benign
38171 Q12872 (SFSWAP) G S 512 rs34541796 Benign
38172 Q12872 (SFSWAP) E G 538 rs34744641 Benign
38173 Q12872 (SFSWAP) A E 887 rs34729193 Benign
38174 Q12873 (CHD3) A V 3 rs931543 Benign
38175 Q12873 (CHD3) H R 886 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38176 Q12873 (CHD3) L F 915 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38177 Q12873 (CHD3) E K 921 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38178 Q12873 (CHD3) G E 961 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38179 Q12873 (CHD3) R Q 985 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38180 Q12873 (CHD3) R W 985 rs1555611722 Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38181 Q12873 (CHD3) D H 1120 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38182 Q12873 (CHD3) R P 1121 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38183 Q12873 (CHD3) T I 1136 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38184 Q12873 (CHD3) W R 1158 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38185 Q12873 (CHD3) N K 1159 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38186 Q12873 (CHD3) H R 1161 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38187 Q12873 (CHD3) R W 1169 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38188 Q12873 (CHD3) H R 1171 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38189 Q12873 (CHD3) R Q 1172 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38190 Q12873 (CHD3) L P 1236 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38191 Q12873 (CHD3) R Q 1342 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38192 Q12873 (CHD3) R L 1881 - Disease: Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205]
38193 Q12879 (GRIN2A) P R 79 rs1250662891 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38194 Q12879 (GRIN2A) F I 183 rs587780353 Benign
38195 Q12879 (GRIN2A) A V 243 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38196 Q12879 (GRIN2A) D N 252 rs868215122 Benign
38197 Q12879 (GRIN2A) K E 270 - Benign
38198 Q12879 (GRIN2A) S F 278 rs148531310 Benign
38199 Q12879 (GRIN2A) A V 290 rs199528312 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38200 Q12879 (GRIN2A) P S 336 rs148511104 Benign
38201 Q12879 (GRIN2A) R W 370 rs761168789 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38202 Q12879 (GRIN2A) E K 371 rs149344082 Benign
38203 Q12879 (GRIN2A) C R 436 rs1555496111 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38204 Q12879 (GRIN2A) G E 449 rs139033056 Benign
38205 Q12879 (GRIN2A) V M 452 rs145956175 Benign
38206 Q12879 (GRIN2A) G R 483 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38207 Q12879 (GRIN2A) R W 504 rs1360906241 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38208 Q12879 (GRIN2A) V A 506 rs796052543 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38209 Q12879 (GRIN2A) R H 518 rs397518470 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38210 Q12879 (GRIN2A) T M 531 rs397518468 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38211 Q12879 (GRIN2A) A T 548 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38212 Q12879 (GRIN2A) P R 552 rs397518450 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38213 Q12879 (GRIN2A) F S 576 - Benign
38214 Q12879 (GRIN2A) H R 595 rs551688681 Benign
38215 Q12879 (GRIN2A) N K 615 rs397518447 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38216 Q12879 (GRIN2A) L V 649 rs397514557 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38217 Q12879 (GRIN2A) F V 652 rs397518471 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38218 Q12879 (GRIN2A) K N 669 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38219 Q12879 (GRIN2A) V G 685 rs796052548 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38220 Q12879 (GRIN2A) I T 694 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38221 Q12879 (GRIN2A) P S 699 rs1555491648 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38222 Q12879 (GRIN2A) M V 705 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38223 Q12879 (GRIN2A) G E 712 rs143031592 Benign
38224 Q12879 (GRIN2A) E K 714 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38225 Q12879 (GRIN2A) A T 716 rs762659685 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38226 Q12879 (GRIN2A) A T 727 rs1555488144 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38227 Q12879 (GRIN2A) D N 731 rs796052549 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38228 Q12879 (GRIN2A) V L 734 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38229 Q12879 (GRIN2A) K E 772 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38230 Q12879 (GRIN2A) L M 812 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38231 Q12879 (GRIN2A) M V 817 rs796052551 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38232 Q12879 (GRIN2A) V M 852 rs150316865 Benign
38233 Q12879 (GRIN2A) I F 904 rs1555482933 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38234 Q12879 (GRIN2A) A V 922 rs200037904 Benign
38235 Q12879 (GRIN2A) S F 929 rs767268773 Benign
38236 Q12879 (GRIN2A) D N 937 rs769602505 Benign
38237 Q12879 (GRIN2A) E K 962 rs765370528 Benign
38238 Q12879 (GRIN2A) A T 968 - Disease: -
38239 Q12879 (GRIN2A) N S 976 rs886039239 Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38240 Q12879 (GRIN2A) T A 1064 rs138809301 Benign
38241 Q12879 (GRIN2A) P L 1074 rs867432846 Benign
38242 Q12879 (GRIN2A) D N 1153 rs267604687 Benign
38243 Q12879 (GRIN2A) E K 1175 rs867464241 Benign
38244 Q12879 (GRIN2A) D N 1251 - Disease: Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]
38245 Q12879 (GRIN2A) R K 1285 rs367543132 Benign
38246 Q12879 (GRIN2A) R W 1318 rs774419037 Benign
38247 Q12879 (GRIN2A) S L 1425 rs976259560 Benign
38248 Q12879 (GRIN2A) E K 1426 rs138415164 Benign
38249 Q12882 (DPYD) C R 29 rs1801265 Disease: Dihydropyrim idine dehydrogenas e deficiency (DPYDD) [MIM:274270]
38250 Q12882 (DPYD) M V 166 rs2297595 Benign
38251 Q12882 (DPYD) R W 235 rs1801266 Disease: Dihydropyrim idine dehydrogenas e deficiency (DPYDD) [MIM:274270]
38252 Q12882 (DPYD) S N 534 rs1801158 Benign
38253 Q12882 (DPYD) I V 543 rs1801159 Benign
38254 Q12882 (DPYD) V I 732 rs1801160 Benign
38255 Q12882 (DPYD) R H 886 rs1801267 Disease: Dihydropyrim idine dehydrogenas e deficiency (DPYDD) [MIM:274270]
38256 Q12882 (DPYD) V F 995 rs1801268 Benign
38257 Q12884 (FAP) S L 363 rs762738740 Benign
38258 Q12887 (COX10) T I 28 rs16948978 Benign
38259 Q12887 (COX10) T S 62 rs2230351 Benign
38260 Q12887 (COX10) Y C 97 rs16948986 Benign
38261 Q12887 (COX10) R Q 159 rs2072279 Benign
38262 Q12887 (COX10) T K 196 rs104894555 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38263 Q12887 (COX10) N K 204 rs104894560 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38264 Q12887 (COX10) P L 225 rs104894556 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38265 Q12887 (COX10) L H 258 rs587780911 Benign
38266 Q12887 (COX10) G R 288 rs753048807 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38267 Q12887 (COX10) D G 336 rs104894557 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38268 Q12887 (COX10) D V 336 rs104894557 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38269 Q12887 (COX10) G D 340 rs1050214 Benign
38270 Q12887 (COX10) P L 420 rs773079584 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
38271 Q12888 (TP53BP1) D E 353 rs560191 Benign
38272 Q12888 (TP53BP1) G S 412 rs689647 Benign
38273 Q12888 (TP53BP1) M V 648 rs45443496 Benign
38274 Q12888 (TP53BP1) Q R 699 rs34823068 Benign
38275 Q12888 (TP53BP1) D G 841 rs34185035 Benign
38276 Q12888 (TP53BP1) E G 1014 rs45470395 Benign
38277 Q12888 (TP53BP1) V A 1026 rs45482998 Benign
38278 Q12888 (TP53BP1) K Q 1136 rs2602141 Benign
38279 Q12888 (TP53BP1) E K 1137 rs34740611 Benign
38280 Q12888 (TP53BP1) A G 1170 rs45500399 Benign
38281 Q12888 (TP53BP1) I V 1174 rs3803339 Benign
38282 Q12888 (TP53BP1) R Q 1442 rs2230449 Benign
38283 Q12888 (TP53BP1) G W 1488 rs11554564 Benign
38284 Q12889 (OVGP1) D E 332 rs17027633 Benign
38285 Q12889 (OVGP1) M T 477 rs2485319 Benign
38286 Q12889 (OVGP1) M V 479 rs3767607 Benign
38287 Q12889 (OVGP1) Y H 514 rs1126656 Benign
38288 Q12889 (OVGP1) P S 526 rs12096782 Benign
38289 Q12889 (OVGP1) S G 536 rs3767609 Benign
38290 Q12889 (OVGP1) H Q 604 rs10067 Benign
38291 Q12889 (OVGP1) E Q 676 rs7825 Benign
38292 Q12891 (HYAL2) S A 18 rs709210 Benign
38293 Q12891 (HYAL2) I L 418 rs35455589 Benign
38294 Q12894 (IFRD2) R Q 502 rs2229648 Benign
38295 Q12899 (TRIM26) Q H 197 rs17194565 Benign
38296 Q12901 (ZNF155) I F 157 rs398235 Benign
38297 Q12901 (ZNF155) P L 231 rs58537897 Benign
38298 Q12901 (ZNF155) R H 251 rs448921 Benign
38299 Q12901 (ZNF155) K R 379 rs2302411 Benign
38300 Q12904 (AIMP1) P A 79 rs1134648 Benign
38301 Q12904 (AIMP1) T A 104 rs113844295 Benign
38302 Q12904 (AIMP1) T A 117 rs2230255 Benign
38303 Q12906 (ILF3) D H 50 rs1064493 Benign
38304 Q12906 (ILF3) A S 501 rs34520379 Benign
38305 Q12908 (SLC10A2) V I 98 rs55971546 Benign
38306 Q12908 (SLC10A2) V I 159 rs60380298 Benign
38307 Q12908 (SLC10A2) S A 171 rs188096 Benign
38308 Q12908 (SLC10A2) L P 243 rs121917848 Disease: Primary bile acid malabsorptio n (PBAM) [MIM:613291]
38309 Q12908 (SLC10A2) T M 262 rs72547505 Disease: Primary bile acid malabsorptio n (PBAM) [MIM:613291]
38310 Q12908 (SLC10A2) P S 290 rs56398830 Benign
38311 Q12912 (IRAG2) T A 94 rs6487451 Benign
38312 Q12912 (IRAG2) L V 197 rs7969931 Benign
38313 Q12912 (IRAG2) L W 241 rs1063159 Benign
38314 Q12912 (IRAG2) C S 253 rs1908946 Benign
38315 Q12913 (PTPRJ) A T 293 rs2229701 Benign
38316 Q12913 (PTPRJ) R Q 326 rs1503185 Benign
38317 Q12913 (PTPRJ) V I 372 rs2229703 Benign
38318 Q12913 (PTPRJ) E D 872 rs4752904 Benign
38319 Q12913 (PTPRJ) I T 1235 rs11039554 Benign
38320 Q12918 (KLRB1) I T 168 rs1135816 Benign
38321 Q12923 (PTPN13) F L 1356 rs10033029 Benign
38322 Q12923 (PTPN13) L P 1419 rs749353184 Benign
38323 Q12923 (PTPN13) I M 1522 rs2230600 Benign
38324 Q12923 (PTPN13) E K 1625 rs12500797 Benign
38325 Q12923 (PTPN13) S P 1744 rs17012064 Benign
38326 Q12923 (PTPN13) Y D 2081 rs989902 Benign
38327 Q12923 (PTPN13) I V 2458 rs34226837 Benign
38328 Q12929 (EPS8) D E 761 rs7137185 Benign
38329 Q12929 (EPS8) A S 806 rs1802658 Benign
38330 Q12931 (TRAP1) R G 307 rs13926 Benign
38331 Q12931 (TRAP1) D E 395 rs1136948 Benign
38332 Q12931 (TRAP1) E K 572 rs55766649 Benign
38333 Q12931 (TRAP1) R H 692 rs2791 Benign
38334 Q12934 (BFSP1) G S 345 rs6080719 Benign
38335 Q12934 (BFSP1) D N 348 rs1085307126 Disease: Cataract 33, multiple types (CTRCT33) [MIM:611391]
38336 Q12934 (BFSP1) D E 656 rs16999317 Benign
38337 Q12946 (FOXF1) P Q 49 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38338 Q12946 (FOXF1) P S 49 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38339 Q12946 (FOXF1) S F 52 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38340 Q12946 (FOXF1) Y C 53 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38341 Q12946 (FOXF1) I N 74 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38342 Q12946 (FOXF1) F L 77 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38343 Q12946 (FOXF1) F I 85 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38344 Q12946 (FOXF1) F L 85 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38345 Q12946 (FOXF1) F S 85 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38346 Q12946 (FOXF1) R W 86 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38347 Q12946 (FOXF1) G E 91 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38348 Q12946 (FOXF1) G V 91 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38349 Q12946 (FOXF1) V M 96 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38350 Q12946 (FOXF1) R H 97 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38351 Q12946 (FOXF1) H Q 98 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38352 Q12946 (FOXF1) S L 101 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38353 Q12946 (FOXF1) F L 106 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38354 Q12946 (FOXF1) G D 119 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38355 Q12946 (FOXF1) P L 126 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38356 Q12946 (FOXF1) R L 139 - Disease: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) [MIM:265380]
38357 Q12948 (FOXC1) P L 79 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38358 Q12948 (FOXC1) P R 79 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38359 Q12948 (FOXC1) P T 79 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38360 Q12948 (FOXC1) S T 82 rs104893953 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38361 Q12948 (FOXC1) L F 86 rs886039568 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38362 Q12948 (FOXC1) I M 87 rs104893954 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38363 Q12948 (FOXC1) I S 91 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38364 Q12948 (FOXC1) I T 91 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38365 Q12948 (FOXC1) M V 109 rs917382067 Disease: Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
38366 Q12948 (FOXC1) F S 112 rs104893951 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38367 Q12948 (FOXC1) Y S 115 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38368 Q12948 (FOXC1) I M 126 rs104893958 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38369 Q12948 (FOXC1) I S 126 rs483352810 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38370 Q12948 (FOXC1) R H 127 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38371 Q12948 (FOXC1) R L 127 rs1085307884 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38372 Q12948 (FOXC1) H R 128 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38373 Q12948 (FOXC1) L F 130 rs121909338 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38374 Q12948 (FOXC1) S L 131 rs104893957 Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38375 Q12948 (FOXC1) S W 131 - Disease: Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
38376 Q12948 (FOXC1) C Y 135 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38377 Q12948 (FOXC1) K E 138 - Disease: Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
38378 Q12948 (FOXC1) G D 149 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38379 Q12948 (FOXC1) W G 152 - Disease: Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
38380 Q12948 (FOXC1) M K 161 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38381 Q12948 (FOXC1) M V 161 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38382 Q12948 (FOXC1) G R 165 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38383 Q12948 (FOXC1) R P 169 - Disease: Axenfeld- Rieger syndrome 3 (RIEG3) [MIM:602482]
38384 Q12948 (FOXC1) P S 297 rs79691946 Disease: Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]
38385 Q12950 (FOXD4) I F 134 rs10959293 Benign
38386 Q12950 (FOXD4) D G 136 rs2492216 Benign
38387 Q12950 (FOXD4) I V 152 rs7031810 Benign
38388 Q12951 (FOXI1) P S 243 rs35678180 Benign
38389 Q12951 (FOXI1) N S 362 rs3828625 Benign
38390 Q12955 (ANK3) K R 2318 rs59021407 Benign
38391 Q12955 (ANK3) H Q 2885 rs11599164 Benign
38392 Q12955 (ANK3) Q H 2996 rs41274672 Benign
38393 Q12955 (ANK3) I V 3117 rs28932171 Benign
38394 Q12955 (ANK3) K R 3123 rs10821668 Benign
38395 Q12955 (ANK3) I V 4257 rs12261793 Benign
38396 Q12959 (DLG1) K R 140 rs1802668 Benign
38397 Q12959 (DLG1) R Q 278 rs1134986 Benign
38398 Q12959 (DLG1) P L 899 rs34492126 Benign
38399 Q12962 (TAF10) I T 92 rs3176311 Benign
38400 Q12965 (MYO1E) A P 159 rs387906807 Disease: Focal segmental glomeruloscl erosis 6 (FSGS6) [MIM:614131]
38401 Q12965 (MYO1E) D G 185 rs141565214 Benign
38402 Q12965 (MYO1E) A V 221 - Benign
38403 Q12965 (MYO1E) T M 469 rs1173043275 Benign
38404 Q12965 (MYO1E) G R 795 rs180951130 Benign
38405 Q12965 (MYO1E) P H 1049 rs147579391 Benign
38406 Q12968 (NFATC3) S L 75 rs2230092 Benign
38407 Q12968 (NFATC3) E A 94 rs3743736 Benign
38408 Q12968 (NFATC3) L S 100 rs2230093 Benign
38409 Q12968 (NFATC3) P L 136 rs2230094 Benign
38410 Q12968 (NFATC3) P S 382 rs2230095 Benign
38411 Q12979 (ABR) K R 517 rs34169260 Benign
38412 Q12981 (BNIP1) Q H 14 rs5745100 Benign
38413 Q12982 (BNIP2) S T 24 rs6151509 Benign
38414 Q12986 (NFX1) H Y 731 rs5017299 Benign
38415 Q12986 (NFX1) P S 760 rs2860036 Benign
38416 Q12986 (NFX1) P Q 1086 rs2274866 Benign
38417 Q12988 (HSPB3) R S 7 rs139382018 Disease: Neuronopathy , distal hereditary motor, 2C (HMN2C) [MIM:613376]
38418 Q12988 (HSPB3) G S 67 rs35258119 Benign
38419 Q13002 (GRIK2) A T 657 - Disease: -
38420 Q13002 (GRIK2) V I 766 rs3213608 Benign
38421 Q13002 (GRIK2) M I 867 rs2235076 Benign
38422 Q13003 (GRIK3) S A 310 rs6691840 Benign
38423 Q13007 (IL24) Y H 124 rs1150258 Benign
38424 Q13007 (IL24) H R 125 rs3093431 Benign
38425 Q13007 (IL24) V L 131 rs3093446 Benign
38426 Q13009 (TIAM1) G R 247 rs2070418 Benign
38427 Q13009 (TIAM1) G V 247 rs2070417 Benign
38428 Q13009 (TIAM1) Q H 844 rs16987932 Benign
38429 Q13009 (TIAM1) R H 1007 rs77092908 Benign
38430 Q13009 (TIAM1) D V 1023 rs75483199 Benign
38431 Q13011 (ECH1) E A 41 rs9419 Benign
38432 Q13011 (ECH1) G R 217 rs2229259 Benign
38433 Q13017 (ARHGAP5) I V 17 rs17386818 Benign
38434 Q13018 (PLA2R1) R Q 142 rs12327936 Benign
38435 Q13018 (PLA2R1) P S 177 rs13394676 Benign
38436 Q13018 (PLA2R1) I V 279 rs965290 Benign
38437 Q13018 (PLA2R1) M V 292 rs3749117 Benign
38438 Q13018 (PLA2R1) H D 300 rs35771982 Benign
38439 Q13018 (PLA2R1) A E 370 rs34916310 Benign
38440 Q13018 (PLA2R1) R H 404 rs33985939 Benign
38441 Q13018 (PLA2R1) G S 1106 rs3828323 Benign
38442 Q13023 (AKAP6) A V 337 rs3742926 Benign
38443 Q13023 (AKAP6) N S 408 rs17099240 Benign
38444 Q13023 (AKAP6) N D 558 rs35210906 Benign
38445 Q13023 (AKAP6) E K 892 rs34572259 Benign
38446 Q13023 (AKAP6) A V 1492 rs11845640 Benign
38447 Q13023 (AKAP6) T A 1516 rs17099587 Benign
38448 Q13023 (AKAP6) V I 1522 rs34711402 Benign
38449 Q13023 (AKAP6) N D 2035 rs1051695 Benign
38450 Q13023 (AKAP6) F Y 2171 rs4647899 Benign
38451 Q13023 (AKAP6) D H 2209 rs4402458 Benign
38452 Q13023 (AKAP6) E D 2267 rs35977369 Benign
38453 Q13029 (PRDM2) D E 283 rs2076324 Benign
38454 Q13029 (PRDM2) S N 450 rs17350795 Benign
38455 Q13033 (STRN3) N S 471 rs2273171 Benign
38456 Q13043 (STK4) H N 162 rs55850759 Benign
38457 Q13043 (STK4) R Q 310 rs35447878 Benign
38458 Q13043 (STK4) V M 312 rs17420378 Benign
38459 Q13043 (STK4) I T 355 rs35944046 Benign
38460 Q13043 (STK4) P L 416 rs33963346 Benign
38461 Q13045 (FLII) R H 1243 rs8821 Benign
38462 Q13046 (PSG7) Y H 65 rs7245978 Benign
38463 Q13049 (TRIM32) P S 130 rs111033571 Disease: Bardet-Biedl syndrome 11 (BBS11) [MIM:615988]
38464 Q13049 (TRIM32) T R 257 rs3747834 Benign
38465 Q13049 (TRIM32) R H 394 rs121434447 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 8 (LGMDR8) [MIM:254110]
38466 Q13049 (TRIM32) R C 408 rs3747835 Benign
38467 Q13049 (TRIM32) D N 487 rs111033570 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 8 (LGMDR8) [MIM:254110]
38468 Q13057 (COASY) S Y 55 rs615942 Benign
38469 Q13057 (COASY) R C 499 rs140709867 Disease: Neurodegener ation with brain iron accumulation 6 (NBIA6) [MIM:615643]
38470 Q13061 (TRDN) T R 59 rs397515459 Disease: Ventricular tachycardia, catecholamin ergic polymorphic, 5, with or without muscle weakness (CPVT5) [MIM:615441]
38471 Q13061 (TRDN) T S 128 rs9490809 Benign
38472 Q13061 (TRDN) L V 201 rs6902416 Benign
38473 Q13061 (TRDN) S N 339 rs35766971 Benign
38474 Q13061 (TRDN) K N 396 rs6901953 Benign
38475 Q13061 (TRDN) V G 404 rs28494009 Benign
38476 Q13061 (TRDN) D E 419 rs17737379 Benign
38477 Q13061 (TRDN) I S 438 rs2873479 Benign
38478 Q13061 (TRDN) L M 470 rs6569336 Benign
38479 Q13061 (TRDN) I M 540 rs7771303 Benign
38480 Q13064 (MKRN3) C G 340 - Disease: Precocious puberty, central 2 (CPPB2) [MIM:615346]
38481 Q13064 (MKRN3) R S 365 rs879255240 Disease: Precocious puberty, central 2 (CPPB2) [MIM:615346]
38482 Q13064 (MKRN3) F I 417 - Disease: Precocious puberty, central 2 (CPPB2) [MIM:615346]
38483 Q13064 (MKRN3) H Q 420 rs755791221 Disease: Precocious puberty, central 2 (CPPB2) [MIM:615346]
38484 Q13075 (NAIP) V M 535 rs1423904967 Benign
38485 Q13077 (TRAF1) M T 139 rs113495277 Benign
38486 Q13084 (MRPL28) H Y 27 rs3194151 Benign
38487 Q13084 (MRPL28) D E 160 rs11557302 Benign
38488 Q13084 (MRPL28) Y C 230 rs13226 Benign
38489 Q13085 (ACACA) R W 838 rs2287351 Benign
38490 Q13085 (ACACA) A V 2271 rs146351326 Benign
38491 Q13087 (PDIA2) P S 39 rs45455191 Benign
38492 Q13087 (PDIA2) T R 119 rs45614840 Benign
38493 Q13087 (PDIA2) E K 185 rs419949 Benign
38494 Q13087 (PDIA2) T M 286 rs2685127 Benign
38495 Q13087 (PDIA2) P A 382 rs45529833 Benign
38496 Q13087 (PDIA2) R Q 388 rs400037 Benign
38497 Q13087 (PDIA2) P S 502 rs1048786 Benign
38498 Q13093 (PLA2G7) L P 45 rs45521937 Benign
38499 Q13093 (PLA2G7) R H 92 rs1805017 Benign
38500 Q13093 (PLA2G7) K N 191 rs45454695 Benign
38501 Q13093 (PLA2G7) I T 198 rs1805018 Benign
38502 Q13093 (PLA2G7) V F 279 rs76863441 Disease: Platelet- activating factor acetylhydrol ase deficiency (PAFAD) [MIM:614278]
38503 Q13093 (PLA2G7) Q R 281 rs201256712 Disease: Platelet- activating factor acetylhydrol ase deficiency (PAFAD) [MIM:614278]
38504 Q13093 (PLA2G7) V A 379 rs1051931 Benign
38505 Q13094 (LCP2) S C 410 rs34192428 Benign
38506 Q13099 (IFT88) M I 374 rs2442455 Benign
38507 Q13099 (IFT88) S N 446 rs9509307 Benign
38508 Q13099 (IFT88) S G 662 rs9552254 Benign
38509 Q13103 (SPP2) S F 38 rs34347825 Benign
38510 Q13106 (ZNF154) H R 57 rs34282745 Benign
38511 Q13106 (ZNF154) G V 122 rs2074078 Benign
38512 Q13106 (ZNF154) L V 182 rs2188736 Benign
38513 Q13106 (ZNF154) P L 384 rs34746514 Benign
38514 Q13107 (USP4) Y C 620 rs9311440 Benign
38515 Q13111 (CHAF1A) D V 167 rs35651457 Benign
38516 Q13111 (CHAF1A) M V 239 rs2230635 Benign
38517 Q13111 (CHAF1A) K R 850 rs8100525 Benign
38518 Q13111 (CHAF1A) A V 923 rs9352 Benign
38519 Q13111 (CHAF1A) A S 950 rs243383 Benign
38520 Q13112 (CHAF1B) K Q 506 rs74900401 Benign
38521 Q13114 (TRAF3) R W 118 rs143813189 Disease: Encephalopat hy, acute, infection- induced, Herpes- specific, 5 (IIAE5) [MIM:614849]
38522 Q13114 (TRAF3) M T 129 rs1131877 Benign
38523 Q13118 (KLF10) S F 249 rs4734653 Benign
38524 Q13126 (MTAP) V I 56 rs7023954 Benign
38525 Q13127 (REST) R P 160 - Disease: Wilms tumor 6 (WT6) [MIM:616806]
38526 Q13127 (REST) N Y 290 - Disease: Wilms tumor 6 (WT6) [MIM:616806]
38527 Q13127 (REST) H R 322 rs869025312 Disease: Wilms tumor 6 (WT6) [MIM:616806]
38528 Q13127 (REST) H Q 412 - Disease: Wilms tumor 6 (WT6) [MIM:616806]
38529 Q13127 (REST) V I 626 rs2228991 Benign
38530 Q13127 (REST) E D 692 rs2227902 Benign
38531 Q13127 (REST) K Q 762 rs2227903 Benign
38532 Q13127 (REST) P L 797 rs3796529 Benign
38533 Q13129 (RLF) R K 668 rs35189918 Benign
38534 Q13129 (RLF) V A 932 rs35563960 Benign
38535 Q13129 (RLF) G D 957 rs35042446 Benign
38536 Q13129 (RLF) P L 1629 rs34123123 Benign
38537 Q13129 (RLF) Q E 1685 rs34141181 Benign
38538 Q13129 (RLF) E D 1784 rs10889205 Benign
38539 Q13131 (PRKAA1) M L 10 rs17855679 Benign
38540 Q13133 (NR1H3) G V 52 rs41481445 Benign
38541 Q13136 (PPFIA1) V I 71 rs546502 Benign
38542 Q13136 (PPFIA1) L F 1072 rs11236045 Benign
38543 Q13137 (CALCOCO2) G E 140 rs550510 Benign
38544 Q13137 (CALCOCO2) G R 227 rs2303016 Benign
38545 Q13137 (CALCOCO2) V A 248 rs2303015 Benign
38546 Q13137 (CALCOCO2) T A 273 rs17849804 Benign
38547 Q13137 (CALCOCO2) P A 389 rs10278 Benign
38548 Q13144 (EIF2B5) D V 62 - Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38549 Q13144 (EIF2B5) L S 68 rs113994044 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38550 Q13144 (EIF2B5) V G 73 rs113994045 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38551 Q13144 (EIF2B5) A T 74 rs113994046 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38552 Q13144 (EIF2B5) T A 91 rs28939717 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38553 Q13144 (EIF2B5) L F 106 rs113994048 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38554 Q13144 (EIF2B5) R C 113 rs113994050 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38555 Q13144 (EIF2B5) R H 113 rs113994049 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38556 Q13144 (EIF2B5) R C 195 rs113994055 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38557 Q13144 (EIF2B5) R H 195 rs113994054 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38558 Q13144 (EIF2B5) N T 200 rs2971409 Benign
38559 Q13144 (EIF2B5) R G 269 rs113994058 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38560 Q13144 (EIF2B5) R Q 269 rs113994057 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38561 Q13144 (EIF2B5) D H 270 rs397514646 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38562 Q13144 (EIF2B5) R H 299 rs113994060 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38563 Q13144 (EIF2B5) C F 310 rs113994062 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38564 Q13144 (EIF2B5) R C 315 rs113994063 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38565 Q13144 (EIF2B5) R G 315 rs113994063 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38566 Q13144 (EIF2B5) R H 315 rs113994064 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38567 Q13144 (EIF2B5) C R 335 rs113994067 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38568 Q13144 (EIF2B5) C S 335 - Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38569 Q13144 (EIF2B5) R P 339 rs113994069 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38570 Q13144 (EIF2B5) R Q 339 rs113994069 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38571 Q13144 (EIF2B5) R W 339 rs113994068 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38572 Q13144 (EIF2B5) N D 376 - Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38573 Q13144 (EIF2B5) G V 386 rs113994074 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38574 Q13144 (EIF2B5) V A 430 rs113994079 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38575 Q13144 (EIF2B5) S L 447 rs113994080 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38576 Q13144 (EIF2B5) I V 587 rs843358 Benign
38577 Q13144 (EIF2B5) W R 628 rs28937596 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38578 Q13144 (EIF2B5) E K 650 rs113994085 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
38579 Q13148 (TARDBP) A V 90 rs80356715 Benign
38580 Q13148 (TARDBP) D G 169 rs80356717 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38581 Q13148 (TARDBP) N S 267 rs80356718 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38582 Q13148 (TARDBP) G S 287 rs80356719 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38583 Q13148 (TARDBP) G A 290 rs121908395 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38584 Q13148 (TARDBP) G A 294 rs80356721 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38585 Q13148 (TARDBP) G V 294 rs80356721 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38586 Q13148 (TARDBP) G R 295 rs80356723 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38587 Q13148 (TARDBP) G S 295 rs80356723 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38588 Q13148 (TARDBP) G S 298 rs4884357 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38589 Q13148 (TARDBP) A T 315 rs80356726 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38590 Q13148 (TARDBP) Q K 331 rs80356727 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38591 Q13148 (TARDBP) S N 332 rs80356728 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38592 Q13148 (TARDBP) G D 335 rs80356729 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38593 Q13148 (TARDBP) M V 337 rs80356730 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38594 Q13148 (TARDBP) Q R 343 rs80356731 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38595 Q13148 (TARDBP) G C 348 rs80356733 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38596 Q13148 (TARDBP) G R 357 - Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38597 Q13148 (TARDBP) R S 361 rs80356735 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38598 Q13148 (TARDBP) R T 361 - Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38599 Q13148 (TARDBP) S C 379 rs80356739 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38600 Q13148 (TARDBP) S P 379 rs80356738 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38601 Q13148 (TARDBP) A T 382 rs367543041 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38602 Q13148 (TARDBP) N D 390 rs80356741 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38603 Q13148 (TARDBP) N S 390 rs80356742 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38604 Q13148 (TARDBP) S L 393 rs80356743 Disease: Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]
38605 Q13153 (PAK1) Y C 131 - Disease: Intellectual developmenta l disorder with macrocephaly , seizures, and speech delay (IDDMSSD) [MIM:618158]
38606 Q13153 (PAK1) Y C 429 - Disease: Intellectual developmenta l disorder with macrocephaly , seizures, and speech delay (IDDMSSD) [MIM:618158]
38607 Q13153 (PAK1) L V 515 rs35345144 Benign
38608 Q13155 (AIMP2) A G 129 rs17855441 Benign
38609 Q13155 (AIMP2) L I 166 rs34525431 Benign
38610 Q13156 (RPA4) A T 33 rs2642219 Benign
38611 Q13158 (FADD) C W 105 rs387906839 Disease: Infections, recurrent, associated with encephalopat hy, hepatic dysfunction and cardiovascul ar malformation s (IEHDCM) [MIM:613759]
38612 Q13163 (MAP2K5) H R 118 rs56241934 Benign
38613 Q13163 (MAP2K5) A V 427 rs1226964455 Benign
38614 Q13163 (MAP2K5) A T 428 rs55811347 Benign
38615 Q13164 (MAPK7) R H 535 - Benign
38616 Q13164 (MAPK7) G A 550 rs56388327 Benign
38617 Q13183 (SLC13A2) L F 44 rs45443898 Benign
38618 Q13183 (SLC13A2) M L 45 rs16964363 Benign
38619 Q13183 (SLC13A2) F L 254 rs11568461 Benign
38620 Q13183 (SLC13A2) A P 310 rs11568441 Benign
38621 Q13183 (SLC13A2) P S 385 rs45546232 Benign
38622 Q13183 (SLC13A2) V M 477 rs11568476 Benign
38623 Q13183 (SLC13A2) I V 550 rs11567842 Benign
38624 Q13188 (STK3) F C 418 rs36047674 Benign
38625 Q13190 (STX5) P L 51 rs3802945 Benign
38626 Q13190 (STX5) Q H 72 rs11231241 Benign
38627 Q13191 (CBLB) R K 584 rs17853100 Benign
38628 Q13191 (CBLB) N D 883 rs35835913 Benign
38629 Q13200 (PSMD2) A T 176 rs11545172 Benign
38630 Q13200 (PSMD2) E D 313 rs11545169 Benign
38631 Q13200 (PSMD2) N Y 724 rs17856236 Benign
38632 Q13201 (MMRN1) T A 58 rs1442138 Benign
38633 Q13201 (MMRN1) T A 805 rs3756065 Benign
38634 Q13201 (MMRN1) G D 883 rs12646270 Benign
38635 Q13201 (MMRN1) T R 964 rs17855885 Benign
38636 Q13203 (MYBPH) Q H 48 rs2788532 Benign
38637 Q13203 (MYBPH) A G 49 rs2791721 Benign
38638 Q13203 (MYBPH) A G 114 rs2642531 Benign
38639 Q13207 (TBX2) R H 305 rs1555877071 Disease: Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223]
38640 Q13216 (ERCC8) S C 150 rs167037 Benign
38641 Q13216 (ERCC8) A T 160 rs281875222 Disease: Cockayne syndrome A (CSA) [MIM:216400]
38642 Q13216 (ERCC8) A V 160 rs121434325 Disease: Cockayne syndrome A (CSA) [MIM:216400]
38643 Q13216 (ERCC8) W C 194 rs281875223 Disease: Cockayne syndrome A (CSA) [MIM:216400]
38644 Q13216 (ERCC8) Y C 200 rs4647105 Benign
38645 Q13216 (ERCC8) L S 202 rs281875224 Disease: Cockayne syndrome A (CSA) [MIM:216400]
38646 Q13216 (ERCC8) A P 205 rs121434326 Disease: Cockayne syndrome A (CSA) [MIM:216400]
38647 Q13216 (ERCC8) D G 266 rs281875225 Disease: Cockayne syndrome A (CSA) [MIM:216400]
38648 Q13216 (ERCC8) W C 361 rs281875221 Disease: UV-sensitive syndrome 2 (UVSS2) [MIM:614621]
38649 Q13219 (PAPPA) S I 5 rs417012 Benign
38650 Q13219 (PAPPA) P L 325 rs445159 Benign
38651 Q13219 (PAPPA) S R 944 rs117124330 Benign
38652 Q13219 (PAPPA) S Y 1224 rs7020782 Benign
38653 Q13224 (GRIN2B) V I 18 rs201094029 Benign
38654 Q13224 (GRIN2B) A V 271 rs138098032 Benign
38655 Q13224 (GRIN2B) S N 407 - Benign
38656 Q13224 (GRIN2B) E G 413 rs527236034 Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38657 Q13224 (GRIN2B) C R 436 - Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38658 Q13224 (GRIN2B) C Y 456 rs397514555 Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38659 Q13224 (GRIN2B) C F 461 - Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38660 Q13224 (GRIN2B) R H 540 rs672601378 Disease: Epileptic encephalopat hy, early infantile, 27 (EIEE27) [MIM:616139]
38661 Q13224 (GRIN2B) P L 553 rs397514556 Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38662 Q13224 (GRIN2B) N I 615 rs672601377 Disease: Epileptic encephalopat hy, early infantile, 27 (EIEE27) [MIM:616139]
38663 Q13224 (GRIN2B) V G 618 rs672601376 Disease: Epileptic encephalopat hy, early infantile, 27 (EIEE27) [MIM:616139]
38664 Q13224 (GRIN2B) R C 682 rs387906636 Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38665 Q13224 (GRIN2B) R H 696 rs1555103971 Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38666 Q13224 (GRIN2B) G E 820 - Disease: Mental retardation, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970]
38667 Q13224 (GRIN2B) L V 825 - Disease: -
38668 Q13224 (GRIN2B) G S 1026 rs201963596 Benign
38669 Q13224 (GRIN2B) M R 1342 - Benign
38670 Q13224 (GRIN2B) L F 1424 rs748128078 Benign
38671 Q13227 (GPS2) T A 306 rs2292065 Benign
38672 Q13228 (SELENBP1) G W 225 rs758495626 Disease: Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) [MIM:618148]
38673 Q13228 (SELENBP1) H Y 329 rs1553204840 Disease: Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) [MIM:618148]
38674 Q13231 (CHIT1) R H 40 rs35920428 Benign
38675 Q13231 (CHIT1) E K 74 rs137852607 Benign
38676 Q13231 (CHIT1) G S 102 rs2297950 Benign
38677 Q13231 (CHIT1) Q H 171 rs12562058 Benign
38678 Q13231 (CHIT1) A G 442 rs1065761 Benign
38679 Q13233 (MAP3K1) S N 92 - Benign
38680 Q13233 (MAP3K1) L P 189 rs387906788 Disease: 46,XY sex reversal 6 (SRXY6) [MIM:613762]
38681 Q13233 (MAP3K1) L R 189 rs387906788 Disease: 46,XY sex reversal 6 (SRXY6) [MIM:613762]
38682 Q13233 (MAP3K1) C S 443 - Benign
38683 Q13233 (MAP3K1) G R 616 rs143853590 Disease: 46,XY sex reversal 6 (SRXY6) [MIM:613762]
38684 Q13233 (MAP3K1) D N 806 rs702689 Benign
38685 Q13233 (MAP3K1) V I 906 rs832582 Benign
38686 Q13237 (PRKG2) T S 22 rs34956759 Benign
38687 Q13237 (PRKG2) H R 106 rs34616910 Benign
38688 Q13239 (SLA) P T 15 rs4486183 Benign
38689 Q13241 (KLRD1) S A 25 rs10772256 Benign
38690 Q13243 (SRSF5) A S 160 rs1057683 Benign
38691 Q13253 (NOG) P A 35 rs28937580 Disease: Brachydactyl y B2 (BDB2) [MIM:611377]
38692 Q13253 (NOG) P R 35 rs104894611 Disease: Tarsal- carpal coalition syndrome (TCC) [MIM:186570]
38693 Q13253 (NOG) P S 35 rs28937580 Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38694 Q13253 (NOG) A P 36 - Disease: Brachydactyl y B2 (BDB2) [MIM:611377]
38695 Q13253 (NOG) E K 48 - Disease: Brachydactyl y B2 (BDB2) [MIM:611377]
38696 Q13253 (NOG) R G 167 rs121908949 Disease: Brachydactyl y B2 (BDB2) [MIM:611377]
38697 Q13253 (NOG) C Y 184 rs104894612 Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38698 Q13253 (NOG) P S 187 - Disease: Brachydactyl y B2 (BDB2) [MIM:611377]
38699 Q13253 (NOG) G C 189 rs104894609 Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38700 Q13253 (NOG) R L 204 rs104894610 Disease: Tarsal- carpal coalition syndrome (TCC) [MIM:186570]
38701 Q13253 (NOG) W C 205 rs104894615 Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38702 Q13253 (NOG) W G 217 rs104894603 Disease: Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]
38703 Q13253 (NOG) I N 220 - Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38704 Q13253 (NOG) Y C 222 rs104894602 Disease: Tarsal- carpal coalition syndrome (TCC) [MIM:186570]
38705 Q13253 (NOG) Y D 222 rs121908948 Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38706 Q13253 (NOG) P L 223 rs104894608 Disease: Symphalangis m, proximal 1A (SYM1A) [MIM:185800]
38707 Q13253 (NOG) C W 232 rs387906844 Disease: Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]
38708 Q13255 (GRM1) S Y 34 rs12190109 Benign
38709 Q13255 (GRM1) Y C 262 rs1554274719 Disease: Spinocerebel lar ataxia 44 (SCA44) [MIM:617691]
38710 Q13255 (GRM1) R K 285 rs7760248 Benign
38711 Q13255 (GRM1) L F 454 - Disease: Spinocerebel lar ataxia, autosomal recessive, 13 (SCAR13) [MIM:614831]
38712 Q13255 (GRM1) S P 593 rs1047005 Benign
38713 Q13255 (GRM1) E D 741 rs3025919 Benign
38714 Q13255 (GRM1) Y C 792 rs1554308513 Disease: Spinocerebel lar ataxia 44 (SCA44) [MIM:617691]
38715 Q13255 (GRM1) G E 884 rs362936 Benign
38716 Q13255 (GRM1) V I 929 rs2941 Benign
38717 Q13255 (GRM1) S P 993 rs6923492 Benign
38718 Q13258 (PTGDR) R C 7 rs41311442 Benign
38719 Q13258 (PTGDR) G E 198 rs41312444 Benign
38720 Q13258 (PTGDR) E A 301 rs41312504 Benign
38721 Q13258 (PTGDR) R Q 332 rs41312506 Benign
38722 Q13261 (IL15RA) N T 182 rs2228059 Benign
38723 Q13263 (TRIM28) T M 794 rs56229738 Benign
38724 Q13275 (SEMA3F) A G 474 rs1046955 Benign
38725 Q13275 (SEMA3F) L M 503 rs1046956 Benign
38726 Q13277 (STX3) E D 83 rs12282741 Benign
38727 Q13277 (STX3) G S 276 rs34563654 Benign
38728 Q13277 (STX3) S P 285 rs34753750 Benign
38729 Q13285 (NR5A1) V M 15 rs104894124 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38730 Q13285 (NR5A1) C S 33 - Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38731 Q13285 (NR5A1) G E 35 rs121918654 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38732 Q13285 (NR5A1) T P 40 - Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38733 Q13285 (NR5A1) C Y 65 - Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38734 Q13285 (NR5A1) M I 78 rs104894125 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38735 Q13285 (NR5A1) R H 84 rs375469069 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38736 Q13285 (NR5A1) G S 91 rs104894126 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38737 Q13285 (NR5A1) R Q 92 rs104894119 Disease: Adrenal insufficienc y, NR5A1-relate d (AINR) [MIM:612964]
38738 Q13285 (NR5A1) R W 92 rs886039769 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38739 Q13285 (NR5A1) G A 123 rs200163795 Disease: Spermatogeni c failure 8 (SPGF8) [MIM:613957]
38740 Q13285 (NR5A1) P L 129 rs200749741 Disease: Spermatogeni c failure 8 (SPGF8) [MIM:613957]
38741 Q13285 (NR5A1) P L 131 rs387906690 Disease: Spermatogeni c failure 8 (SPGF8) [MIM:613957]
38742 Q13285 (NR5A1) G A 146 rs1110061 Benign
38743 Q13285 (NR5A1) R C 191 rs1253324106 Disease: Spermatogeni c failure 8 (SPGF8) [MIM:613957]
38744 Q13285 (NR5A1) G S 212 rs201095702 Disease: Spermatogeni c failure 8 (SPGF8) [MIM:613957]
38745 Q13285 (NR5A1) D N 238 rs780568525 Disease: Spermatogeni c failure 8 (SPGF8) [MIM:613957]
38746 Q13285 (NR5A1) R L 255 rs104894118 Disease: Adrenal insufficienc y, NR5A1-relate d (AINR) [MIM:612964]
38747 Q13285 (NR5A1) D N 293 rs121918655 Disease: Premature ovarian failure 7 (POF7) [MIM:612964]
38748 Q13285 (NR5A1) L Q 437 rs104894120 Disease: 46,XY sex reversal 3 (SRXY3) [MIM:612965]
38749 Q13286 (CLN3) L P 101 rs386833714 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38750 Q13286 (CLN3) C R 134 rs386833719 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38751 Q13286 (CLN3) L P 170 rs386833727 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38752 Q13286 (CLN3) G A 187 rs386833730 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38753 Q13286 (CLN3) G R 189 rs386833731 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38754 Q13286 (CLN3) E K 295 rs121434286 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38755 Q13286 (CLN3) V F 330 rs386833744 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38756 Q13286 (CLN3) R C 334 rs386833694 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38757 Q13286 (CLN3) R H 334 rs386833695 Disease: Ceroid lipofuscinos is, neuronal, 3 (CLN3) [MIM:204200]
38758 Q13287 (NMI) S L 16 rs1048135 Benign
38759 Q13291 (SLAMF1) F L 11 rs2295612 Benign
38760 Q13291 (SLAMF1) P T 333 rs3796504 Benign
38761 Q13308 (PTK7) R H 276 rs56188167 Benign
38762 Q13308 (PTK7) T S 410 rs34021075 Benign
38763 Q13308 (PTK7) E D 745 rs9472017 Benign
38764 Q13308 (PTK7) E Q 766 rs56216742 Benign
38765 Q13308 (PTK7) A V 777 rs34764696 Benign
38766 Q13308 (PTK7) H R 783 rs55820547 Benign
38767 Q13308 (PTK7) P T 1029 rs55755163 Benign
38768 Q13308 (PTK7) R Q 1038 rs34865794 Benign
38769 Q13309 (SKP2) P L 85 rs3913486 Benign
38770 Q13309 (SKP2) L I 87 rs3913487 Benign
38771 Q13310 (PABPC4) Y F 382 rs9820 Benign
38772 Q13315 (ATM) S C 49 rs1800054 Benign
38773 Q13315 (ATM) D E 126 rs2234997 Benign
38774 Q13315 (ATM) D H 140 rs55633650 Benign
38775 Q13315 (ATM) V L 182 rs3218707 Benign
38776 Q13315 (ATM) R Q 250 rs56123940 Benign
38777 Q13315 (ATM) P L 292 rs747727055 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38778 Q13315 (ATM) I V 323 rs587781511 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38779 Q13315 (ATM) S F 333 rs28904919 Benign
38780 Q13315 (ATM) V A 410 rs56128736 Benign
38781 Q13315 (ATM) N S 504 rs56365018 Benign
38782 Q13315 (ATM) G D 514 rs2235000 Benign
38783 Q13315 (ATM) L V 546 rs2227924 Benign
38784 Q13315 (ATM) F S 570 rs777301065 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38785 Q13315 (ATM) F L 582 rs2235006 Benign
38786 Q13315 (ATM) S P 707 rs4986761 Benign
38787 Q13315 (ATM) T S 761 rs2235011 Benign
38788 Q13315 (ATM) N D 768 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38789 Q13315 (ATM) R C 785 rs587778065 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38790 Q13315 (ATM) S R 788 rs641252 Benign
38791 Q13315 (ATM) D E 814 rs3218695 Benign
38792 Q13315 (ATM) F L 858 rs1800056 Benign
38793 Q13315 (ATM) P S 872 rs3218673 Benign
38794 Q13315 (ATM) T A 935 rs35813135 Benign
38795 Q13315 (ATM) T M 935 rs3218708 Benign
38796 Q13315 (ATM) L F 942 rs3218688 Benign
38797 Q13315 (ATM) L R 950 rs786203054 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38798 Q13315 (ATM) L Q 1001 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38799 Q13315 (ATM) L P 1046 rs568461905 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38800 Q13315 (ATM) P R 1054 rs1800057 Benign
38801 Q13315 (ATM) H L 1082 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38802 Q13315 (ATM) E D 1091 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38803 Q13315 (ATM) E Q 1313 rs3092841 Benign
38804 Q13315 (ATM) M I 1321 rs35184530 Benign
38805 Q13315 (ATM) L I 1322 rs144535256 Benign
38806 Q13315 (ATM) H Y 1380 rs3092856 Benign
38807 Q13315 (ATM) P S 1382 rs55859590 Benign
38808 Q13315 (ATM) L F 1420 rs1800058 Benign
38809 Q13315 (ATM) L P 1420 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38810 Q13315 (ATM) A T 1427 rs2229021 Benign
38811 Q13315 (ATM) K N 1454 rs148993589 Benign
38812 Q13315 (ATM) L P 1465 rs730881391 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38813 Q13315 (ATM) Y C 1475 rs34640941 Benign
38814 Q13315 (ATM) L F 1541 rs3092849 Benign
38815 Q13315 (ATM) P R 1566 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38816 Q13315 (ATM) V A 1570 rs140856217 Benign
38817 Q13315 (ATM) N S 1650 rs55870064 Benign
38818 Q13315 (ATM) S R 1691 rs1800059 Benign
38819 Q13315 (ATM) V L 1729 rs3092907 Benign
38820 Q13315 (ATM) T I 1743 rs587779844 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38821 Q13315 (ATM) D N 1853 rs1801516 Benign
38822 Q13315 (ATM) D V 1853 rs1801673 Benign
38823 Q13315 (ATM) V G 1913 rs1060501688 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38824 Q13315 (ATM) S N 1983 rs659243 Benign
38825 Q13315 (ATM) D G 2016 rs587781302 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38826 Q13315 (ATM) G R 2023 rs11212587 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38827 Q13315 (ATM) R Q 2034 rs3218670 Benign
38828 Q13315 (ATM) G E 2063 rs866290641 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38829 Q13315 (ATM) A D 2067 rs397514577 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38830 Q13315 (ATM) L S 2068 rs1555114558 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38831 Q13315 (ATM) V I 2079 rs1800060 Benign
38832 Q13315 (ATM) Y D 2080 rs1064795467 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38833 Q13315 (ATM) S C 2218 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38834 Q13315 (ATM) R C 2227 rs564652222 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38835 Q13315 (ATM) L P 2332 rs4988111 Benign
38836 Q13315 (ATM) T K 2335 rs3092831 Benign
38837 Q13315 (ATM) V G 2424 rs28904921 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38838 Q13315 (ATM) T I 2438 rs147604227 Benign
38839 Q13315 (ATM) Y D 2470 rs876659365 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38840 Q13315 (ATM) W R 2491 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38841 Q13315 (ATM) L R 2492 rs56399857 Benign
38842 Q13315 (ATM) H D 2554 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38843 Q13315 (ATM) E G 2570 rs28904920 Benign
38844 Q13315 (ATM) D Q 2625 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38845 Q13315 (ATM) Y H 2627 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38846 Q13315 (ATM) T I 2640 rs4988125 Benign
38847 Q13315 (ATM) L P 2656 rs121434218 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38848 Q13315 (ATM) I R 2702 rs876659735 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38849 Q13315 (ATM) G S 2709 rs3218680 Benign
38850 Q13315 (ATM) A V 2726 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38851 Q13315 (ATM) G S 2765 rs748634900 Benign
38852 Q13315 (ATM) C Y 2824 rs876660927 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38853 Q13315 (ATM) F C 2827 rs121434216 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38854 Q13315 (ATM) P L 2829 rs938431501 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38855 Q13315 (ATM) R C 2832 rs587779872 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38856 Q13315 (ATM) F L 2834 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38857 Q13315 (ATM) R P 2849 rs587782202 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38858 Q13315 (ATM) S R 2855 rs780905851 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38859 Q13315 (ATM) G R 2867 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38860 Q13315 (ATM) D N 2870 rs55798854 Benign
38861 Q13315 (ATM) E G 2904 rs786202826 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38862 Q13315 (ATM) R G 2909 - Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38863 Q13315 (ATM) N D 3003 rs1137889 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38864 Q13315 (ATM) R C 3008 rs587782292 Disease: Ataxia telangiectas ia (AT) [MIM:208900]
38865 Q13316 (DMP1) S C 69 rs10019009 Benign
38866 Q13316 (DMP1) R H 272 rs145237146 Benign
38867 Q13316 (DMP1) K R 463 rs34661425 Benign
38868 Q13322 (GRB10) P L 36 rs35647889 Benign
38869 Q13322 (GRB10) P S 95 rs80244589 Benign
38870 Q13322 (GRB10) D H 558 rs11768472 Benign
38871 Q13323 (BIK) E K 19 rs4988415 Benign
38872 Q13323 (BIK) T I 26 rs11090143 Benign
38873 Q13323 (BIK) L P 148 rs11574527 Benign
38874 Q13324 (CRHR2) E D 220 rs34625936 Benign
38875 Q13326 (SGCG) G D 69 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
38876 Q13326 (SGCG) G R 69 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
38877 Q13326 (SGCG) L S 71 rs143009120 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
38878 Q13326 (SGCG) R H 116 rs17314986 Benign
38879 Q13326 (SGCG) C Y 283 rs104894422 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) [MIM:253700]
38880 Q13326 (SGCG) N S 287 rs1800354 Benign
38881 Q13330 (MTA1) V I 372 rs4983413 Benign
38882 Q13330 (MTA1) A T 612 rs13707 Benign
38883 Q13332 (PTPRS) C R 1457 rs4807697 Benign
38884 Q13336 (SLC14A1) E K 44 rs2298720 Benign
38885 Q13336 (SLC14A1) N K 74 rs749037771 Benign
38886 Q13336 (SLC14A1) M V 167 rs2298719 Benign
38887 Q13336 (SLC14A1) W R 171 rs9948825 Benign
38888 Q13336 (SLC14A1) D N 280 rs1058396 Benign
38889 Q13336 (SLC14A1) S P 291 rs78242949 Benign
38890 Q13336 (SLC14A1) G E 299 rs538368217 Benign
38891 Q13336 (SLC14A1) T M 319 rs565898944 Benign
38892 Q13342 (SP140) L F 356 rs3820975 Benign
38893 Q13342 (SP140) M T 512 rs4972945 Benign
38894 Q13342 (SP140) E K 516 rs4972946 Benign
38895 Q13342 (SP140) R C 558 rs11887179 Benign
38896 Q13351 (KLF1) E K 5 rs483352842 Benign
38897 Q13351 (KLF1) S P 102 rs2072597 Benign
38898 Q13351 (KLF1) F L 182 rs2072596 Benign
38899 Q13351 (KLF1) H D 299 rs137852688 Benign
38900 Q13351 (KLF1) H Y 299 rs137852688 Benign
38901 Q13351 (KLF1) C W 316 - Benign
38902 Q13351 (KLF1) E K 325 rs267607201 Disease: Anemia, congenital dyserythropo ietic, 4 (CDAN4) [MIM:613673]
38903 Q13351 (KLF1) R H 328 rs140252918 Benign
38904 Q13351 (KLF1) T R 334 rs483352841 Benign
38905 Q13351 (KLF1) P S 338 rs387907599 Benign
38906 Q13351 (KLF1) C Y 341 rs483352839 Benign
38907 Q13352 (ITGB3BP) I V 30 rs1058057 Benign
38908 Q13360 (ZNF177) D G 94 rs2230750 Benign
38909 Q13360 (ZNF177) T M 112 rs2217652 Benign
38910 Q13360 (ZNF177) I F 455 rs2230752 Benign
38911 Q13361 (MFAP5) W L 21 rs724159961 Disease: Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166]
38912 Q13362 (PPP2R5C) A P 515 rs3742424 Benign
38913 Q13363 (CTBP1) R W 342 rs869320802 Disease: Hypotonia, ataxia, developmenta l delay, and tooth enamel defect syndrome (HADDTS) [MIM:617915]
38914 Q13368 (MPP3) R G 585 rs17742683 Benign
38915 Q13370 (PDE3B) A V 87 rs1056584 Benign
38916 Q13371 (PDCL) K N 218 rs4466466 Benign
38917 Q13387 (MAPK8IP2) P L 743 rs1140555 Benign
38918 Q13393 (PLD1) P A 49 rs9819927 Benign
38919 Q13393 (PLD1) H P 442 rs769669104 Disease: Cardiac valvular defect, developmenta l (CVDD) [MIM:212093]
38920 Q13393 (PLD1) A S 622 rs2290480 Benign
38921 Q13393 (PLD1) V M 820 rs2287579 Benign
38922 Q13393 (PLD1) V I 1024 rs9827333 Benign
38923 Q13394 (MAB21L1) S P 70 rs1065316 Benign
38924 Q13395 (TARBP1) L P 221 rs12082990 Benign
38925 Q13395 (TARBP1) A T 425 rs10910439 Benign
38926 Q13395 (TARBP1) D G 513 rs35562024 Benign
38927 Q13395 (TARBP1) S G 678 rs4920246 Benign
38928 Q13395 (TARBP1) N S 743 rs2273872 Benign
38929 Q13395 (TARBP1) H P 864 rs4272658 Benign
38930 Q13395 (TARBP1) F L 997 rs12135427 Benign
38931 Q13395 (TARBP1) T I 1038 rs3820602 Benign
38932 Q13395 (TARBP1) I V 1359 rs3738616 Benign
38933 Q13395 (TARBP1) I V 1461 rs2275654 Benign
38934 Q13398 (ZNF211) D N 110 rs34897843 Benign
38935 Q13398 (ZNF211) A V 314 rs11879465 Benign
38936 Q13402 (MYO7A) L S 16 rs1052030 Benign
38937 Q13402 (MYO7A) G R 25 rs782252317 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38938 Q13402 (MYO7A) A E 26 rs369125667 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38939 Q13402 (MYO7A) V M 67 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38940 Q13402 (MYO7A) R P 90 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38941 Q13402 (MYO7A) I N 134 rs111033181 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38942 Q13402 (MYO7A) G R 163 rs1472566324 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38943 Q13402 (MYO7A) K R 164 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38944 Q13402 (MYO7A) T M 165 rs111033174 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38945 Q13402 (MYO7A) A T 198 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38946 Q13402 (MYO7A) T A 204 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38947 Q13402 (MYO7A) I V 205 rs781946292 Benign
38948 Q13402 (MYO7A) R C 212 rs121965080 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38949 Q13402 (MYO7A) R H 212 rs28934610 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38950 Q13402 (MYO7A) G R 214 rs111033283 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38951 Q13402 (MYO7A) R C 241 rs782166819 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38952 Q13402 (MYO7A) R S 241 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38953 Q13402 (MYO7A) R P 244 rs121965081 Disease: Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]
38954 Q13402 (MYO7A) R H 302 rs41298135 Benign
38955 Q13402 (MYO7A) A D 397 rs1555067667 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38956 Q13402 (MYO7A) E Q 450 rs1269622956 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38957 Q13402 (MYO7A) A V 457 rs111033286 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38958 Q13402 (MYO7A) N I 458 rs121965084 Disease: Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]
38959 Q13402 (MYO7A) P L 503 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38960 Q13402 (MYO7A) G D 519 rs111033206 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38961 Q13402 (MYO7A) V I 597 - Benign
38962 Q13402 (MYO7A) M I 599 rs121965082 Disease: Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]
38963 Q13402 (MYO7A) E K 602 rs2276282 Benign
38964 Q13402 (MYO7A) L P 651 rs876657416 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38965 Q13402 (MYO7A) C R 652 - Disease: Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]
38966 Q13402 (MYO7A) V I 679 rs35641839 Benign
38967 Q13402 (MYO7A) G R 722 - Disease: Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]
38968 Q13402 (MYO7A) R W 756 rs782174733 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38969 Q13402 (MYO7A) A T 826 rs368341987 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38970 Q13402 (MYO7A) R C 853 - Disease: Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]
38971 Q13402 (MYO7A) M R 946 rs1296612982 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38972 Q13402 (MYO7A) G S 955 rs781988557 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38973 Q13402 (MYO7A) E D 968 rs111033233 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38974 Q13402 (MYO7A) L P 1087 rs375050157 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38975 Q13402 (MYO7A) E K 1170 rs111033214 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38976 Q13402 (MYO7A) R Q 1240 rs111033178 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38977 Q13402 (MYO7A) E K 1248 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38978 Q13402 (MYO7A) A P 1288 rs749747871 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38979 Q13402 (MYO7A) E K 1327 rs373169422 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38980 Q13402 (MYO7A) R S 1343 rs763469001 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38981 Q13402 (MYO7A) T M 1566 rs41298747 Benign
38982 Q13402 (MYO7A) R Q 1602 rs139889944 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38983 Q13402 (MYO7A) A S 1628 - Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38984 Q13402 (MYO7A) S C 1666 rs2276288 Benign
38985 Q13402 (MYO7A) S G 1666 - Benign
38986 Q13402 (MYO7A) Y C 1719 rs77625410 Benign
38987 Q13402 (MYO7A) G S 1740 rs12275336 Benign
38988 Q13402 (MYO7A) R W 1743 rs111033287 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38989 Q13402 (MYO7A) E K 1812 rs377267777 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38990 Q13402 (MYO7A) L P 1858 rs368657015 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38991 Q13402 (MYO7A) R W 1873 rs397516321 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38992 Q13402 (MYO7A) R Q 1883 rs111033215 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38993 Q13402 (MYO7A) P L 1887 rs199606180 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38994 Q13402 (MYO7A) L I 1954 rs948962 Benign
38995 Q13402 (MYO7A) F I 1992 rs771906493 Benign
38996 Q13402 (MYO7A) G E 2137 rs1191025888 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38997 Q13402 (MYO7A) D N 2142 rs1132036 Benign
38998 Q13402 (MYO7A) G S 2163 rs747656448 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
38999 Q13402 (MYO7A) G D 2187 rs397516332 Disease: Usher syndrome 1B (USH1B) [MIM:276900]
39000 Q13405 (MRPL49) T A 9 rs17146691 Benign
39001 Q13409 (DYNC1I2) Y C 247 - Disease: Neurodevelop mental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492]
39002 Q13409 (DYNC1I2) P A 516 rs767705533 Benign
39003 Q13410 (BTN1A1) A T 213 rs3736781 Benign
39004 Q13410 (BTN1A1) V A 303 rs1980600 Benign
39005 Q13410 (BTN1A1) D E 503 rs9393728 Benign
39006 Q13410 (BTN1A1) P S 521 rs35555795 Benign
39007 Q13415 (ORC1) R S 19 rs3087473 Benign
39008 Q13415 (ORC1) F S 89 rs387906827 Disease: Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
39009 Q13415 (ORC1) R Q 105 rs143141689 Disease: Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
39010 Q13415 (ORC1) E G 127 rs387906826 Disease: Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
39011 Q13415 (ORC1) Q H 180 rs3087482 Benign
39012 Q13415 (ORC1) V M 190 rs3087477 Benign
39013 Q13415 (ORC1) A V 372 rs3087476 Benign
39014 Q13415 (ORC1) R M 441 rs3087472 Benign
39015 Q13415 (ORC1) K E 456 rs3087470 Benign
39016 Q13415 (ORC1) T M 466 rs3087481 Benign
39017 Q13415 (ORC1) C Y 469 rs3087483 Benign
39018 Q13415 (ORC1) R W 666 rs201253919 Disease: Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
39019 Q13415 (ORC1) R Q 720 rs387906828 Disease: Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]
39020 Q13415 (ORC1) M T 816 rs34521609 Benign
39021 Q13416 (ORC2) M K 106 rs2307361 Benign
39022 Q13416 (ORC2) R Q 521 rs16835624 Benign
39023 Q13421 (MSLN) A V 72 rs9927389 Benign
39024 Q13421 (MSLN) R P 309 rs17850474 Benign
39025 Q13421 (MSLN) G E 497 rs35935235 Benign
39026 Q13421 (MSLN) M V 601 rs1135210 Benign
39027 Q13422 (IKZF1) R L 162 rs770551610 Disease: Immunodefici ency, common variable, 13 (CVID13) [MIM:616873]
39028 Q13422 (IKZF1) R Q 162 rs770551610 Disease: Immunodefici ency, common variable, 13 (CVID13) [MIM:616873]
39029 Q13422 (IKZF1) H R 167 rs869312884 Disease: Immunodefici ency, common variable, 13 (CVID13) [MIM:616873]
39030 Q13422 (IKZF1) R Q 184 rs869312885 Disease: Immunodefici ency, common variable, 13 (CVID13) [MIM:616873]
39031 Q13422 (IKZF1) Y C 210 rs869312883 Disease: Immunodefici ency, common variable, 13 (CVID13) [MIM:616873]
39032 Q13423 (NNT) S N 193 rs867004061 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39033 Q13423 (NNT) T A 357 rs1447408865 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39034 Q13423 (NNT) H P 365 - Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39035 Q13423 (NNT) P L 437 rs781183677 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39036 Q13423 (NNT) A V 533 rs387907232 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39037 Q13423 (NNT) G R 664 rs371979800 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39038 Q13423 (NNT) G R 678 - Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39039 Q13423 (NNT) G D 862 rs1474421419 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39040 Q13423 (NNT) L P 977 rs387907233 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39041 Q13423 (NNT) A P 1008 rs387907234 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39042 Q13423 (NNT) N K 1009 rs370273690 Disease: Glucocortico id deficiency 4 with or without mineralocort icoid deficiency (GCCD4) [MIM:614736]
39043 Q13424 (SNTA1) A G 257 rs56157422 Disease: Long QT syndrome 12 (LQT12) [MIM:612955]
39044 Q13424 (SNTA1) L F 364 rs1046815 Benign
39045 Q13424 (SNTA1) A V 390 rs121434500 Disease: Long QT syndrome 12 (LQT12) [MIM:612955]
39046 Q13425 (SNTB2) S R 376 - Benign
39047 Q13425 (SNTB2) D E 424 rs1058482 Benign
39048 Q13426 (XRCC4) S C 12 rs28383138 Benign
39049 Q13426 (XRCC4) W R 43 rs587779351 Disease: Short stature, microcephaly , and endocrine dysfunction (SSMED) [MIM:616541]
39050 Q13426 (XRCC4) A T 56 rs28383151 Benign
39051 Q13426 (XRCC4) I T 134 rs28360135 Benign
39052 Q13426 (XRCC4) E Q 142 rs28360136 Benign
39053 Q13426 (XRCC4) R Q 161 rs797045017 Disease: Short stature, microcephaly , and endocrine dysfunction (SSMED) [MIM:616541]
39054 Q13426 (XRCC4) Q P 240 rs2974446 Benign
39055 Q13426 (XRCC4) A S 247 rs3734091 Benign
39056 Q13427 (PPIG) D E 445 rs1050354 Benign
39057 Q13427 (PPIG) N D 699 rs8207 Benign
39058 Q13428 (TCOF1) W R 53 - Disease: Treacher Collins syndrome 1 (TCS1) [MIM:154500]
39059 Q13428 (TCOF1) A P 221 rs11541811 Benign
39060 Q13428 (TCOF1) P L 516 rs138645438 Benign
39061 Q13428 (TCOF1) A P 665 rs2071240 Benign
39062 Q13428 (TCOF1) V A 887 rs7713638 Benign
39063 Q13428 (TCOF1) P R 1176 rs1136103 Benign
39064 Q13428 (TCOF1) G R 1280 rs11541812 Benign
39065 Q13428 (TCOF1) A V 1390 rs15251 Benign
39066 Q13428 (TCOF1) G A 1431 rs45491898 Benign
39067 Q13428 (TCOF1) D G 1432 rs151344580 Benign
39068 Q13432 (UNC119) G V 22 rs199714731 Disease: Immunodefici ency 13 (IMD13) [MIM:615518]
39069 Q13433 (SLC39A6) E D 119 rs1789528 Benign
39070 Q13438 (OS9) D N 305 rs141986192 Benign
39071 Q13438 (OS9) R W 398 rs1804598 Benign
39072 Q13438 (OS9) S L 454 rs34764811 Benign
39073 Q13439 (GOLGA4) Q K 1028 rs11718848 Benign
39074 Q13439 (GOLGA4) N S 1552 rs9840779 Benign
39075 Q13439 (GOLGA4) R S 2058 rs11924014 Benign
39076 Q13444 (ADAM15) K T 191 rs6427128 Benign
39077 Q13444 (ADAM15) E K 216 rs115753757 Benign
39078 Q13444 (ADAM15) P H 294 rs2306122 Benign
39079 Q13454 (TUSC3) I V 65 rs11545035 Benign
39080 Q13454 (TUSC3) M V 247 - Benign
39081 Q13461 (FOXE3) G A 49 rs566961335 Benign
39082 Q13461 (FOXE3) R L 90 rs371048362 Disease: Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]
39083 Q13461 (FOXE3) E K 103 rs1057518738 Disease: Cataract 34, multiple types (CTRCT34) [MIM:612968]
39084 Q13461 (FOXE3) N K 117 rs1057518737 Disease: Cataract 34, multiple types (CTRCT34) [MIM:612968]
39085 Q13461 (FOXE3) R G 120 - Disease: Anterior segment dysgenesis 2 (ASGD2) [MIM:610256]
39086 Q13461 (FOXE3) G D 137 rs749960549 Disease: Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349]
39087 Q13461 (FOXE3) D H 153 rs367943249 Disease: Aortic aneurysm, familial thoracic 11 (AAT11) [MIM:617349]
39088 Q13461 (FOXE3) G A 196 rs281865461 Benign
39089 Q13461 (FOXE3) S G 300 rs552420470 Benign
39090 Q13464 (ROCK1) S N 108 rs55811609 Benign
39091 Q13464 (ROCK1) T S 773 rs45562542 Benign
39092 Q13464 (ROCK1) T P 1112 rs35881519 Benign
39093 Q13464 (ROCK1) Q E 1217 rs2847092 Benign
39094 Q13464 (ROCK1) R Q 1262 rs1045142 Benign
39095 Q13464 (ROCK1) C R 1264 rs2663698 Benign
39096 Q13467 (FZD5) P L 216 rs35994626 Benign
39097 Q13469 (NFATC2) H R 446 rs12479626 Benign
39098 Q13470 (TNK1) V I 278 rs55939858 Benign
39099 Q13470 (TNK1) T K 514 rs55641092 Benign
39100 Q13470 (TNK1) R C 539 rs36046975 Benign
39101 Q13470 (TNK1) S C 546 rs56093628 Benign
39102 Q13470 (TNK1) V M 598 rs6503018 Benign
39103 Q13472 (TOP3A) M V 100 rs376902371 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 5 (PEOB5) [MIM:618098]
39104 Q13472 (TOP3A) A V 176 - Disease: Microcephaly , growth restriction, and increased sister chromatid exchange 2 (MGRISCE2) [MIM:618097]
39105 Q13472 (TOP3A) D N 459 rs28671051 Benign
39106 Q13472 (TOP3A) C Y 596 - Benign
39107 Q13472 (TOP3A) D N 742 rs9909732 Benign
39108 Q13472 (TOP3A) N D 773 rs9911283 Benign
39109 Q13474 (DRP2) V L 68 rs7066252 Benign
39110 Q13477 (MADCAM1) P H 300 rs3745925 Benign
39111 Q13478 (IL18R1) R H 210 rs11465635 Benign
39112 Q13478 (IL18R1) N K 232 rs11465644 Benign
39113 Q13478 (IL18R1) S N 310 rs11465648 Benign
39114 Q13478 (IL18R1) G R 423 rs12619169 Benign
39115 Q13480 (GAB1) G E 116 rs1553950635 Disease: Deafness, autosomal recessive, 26 (DFNB26) [MIM:605428]
39116 Q13480 (GAB1) P L 311 rs28925904 Benign
39117 Q13480 (GAB1) T I 377 rs2229879 Benign
39118 Q13485 (SMAD4) E G 330 rs281875324 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
39119 Q13485 (SMAD4) G R 352 rs121912581 Disease: Juvenile polyposis/he reditary hemorrhagic telangiectas ia syndrome (JP/HHT) [MIM:175050]
39120 Q13485 (SMAD4) R C 361 rs80338963 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
39121 Q13485 (SMAD4) G D 386 rs121912580 Disease: Juvenile polyposis/he reditary hemorrhagic telangiectas ia syndrome (JP/HHT) [MIM:175050]
39122 Q13485 (SMAD4) I M 500 rs281875320 Disease: Myhre syndrome (MYHRS) [MIM:139210]
39123 Q13485 (SMAD4) I T 500 rs281875321 Disease: Myhre syndrome (MYHRS) [MIM:139210]
39124 Q13485 (SMAD4) I V 500 rs281875322 Disease: Myhre syndrome (MYHRS) [MIM:139210]
39125 Q13487 (SNAPC2) L V 118 rs475002 Benign
39126 Q13488 (TCIRG1) R W 56 rs36027301 Benign
39127 Q13488 (TCIRG1) A P 141 - Disease: Osteopetrosi s, autosomal recessive 1 (OPTB1) [MIM:259700]
39128 Q13488 (TCIRG1) P L 161 rs34227834 Benign
39129 Q13488 (TCIRG1) G R 405 rs137853150 Disease: Osteopetrosi s, autosomal recessive 1 (OPTB1) [MIM:259700]
39130 Q13488 (TCIRG1) R L 444 rs137853151 Disease: Osteopetrosi s, autosomal recessive 1 (OPTB1) [MIM:259700]
39131 Q13488 (TCIRG1) D N 517 rs369264588 Disease: Osteopetrosi s, autosomal recessive 1 (OPTB1) [MIM:259700]
39132 Q13488 (TCIRG1) P R 775 - Disease: Osteopetrosi s, autosomal recessive 1 (OPTB1) [MIM:259700]
39133 Q13489 (BIRC3) K R 260 rs2276113 Benign
39134 Q13489 (BIRC3) V M 386 rs12222256 Benign
39135 Q13489 (BIRC3) R K 401 rs17881197 Benign
39136 Q13490 (BIRC2) M I 453 rs34749508 Benign
39137 Q13490 (BIRC2) M V 453 rs370745983 Benign
39138 Q13490 (BIRC2) A V 506 rs34510872 Benign
39139 Q13490 (BIRC2) P S 549 rs35494784 Benign
39140 Q13492 (PICALM) T P 158 rs12800974 Benign
39141 Q13492 (PICALM) S F 383 rs12222608 Benign
39142 Q13492 (PICALM) W C 578 rs1043858 Benign
39143 Q13492 (PICALM) Q E 579 rs1043859 Benign
39144 Q13492 (PICALM) F L 641 rs556337 Benign
39145 Q13495 (MAMLD1) P S 359 rs41313406 Benign
39146 Q13495 (MAMLD1) Q R 580 - Benign
39147 Q13495 (MAMLD1) N S 662 rs2073043 Benign
39148 Q13496 (MTM1) V F 49 rs587783796 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39149 Q13496 (MTM1) Y D 68 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39150 Q13496 (MTM1) R C 69 rs132630304 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39151 Q13496 (MTM1) R P 69 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39152 Q13496 (MTM1) R S 69 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39153 Q13496 (MTM1) L F 70 rs587783809 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39154 Q13496 (MTM1) L P 87 rs587783816 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39155 Q13496 (MTM1) E K 157 rs132630307 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39156 Q13496 (MTM1) P S 179 rs587783832 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39157 Q13496 (MTM1) N K 180 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39158 Q13496 (MTM1) R G 184 rs587783835 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39159 Q13496 (MTM1) R L 184 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39160 Q13496 (MTM1) T I 186 rs587783836 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39161 Q13496 (MTM1) N S 189 rs132630302 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39162 Q13496 (MTM1) T I 197 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39163 Q13496 (MTM1) Y N 198 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39164 Q13496 (MTM1) P S 199 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39165 Q13496 (MTM1) L S 202 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39166 Q13496 (MTM1) P L 205 rs587783841 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39167 Q13496 (MTM1) I T 225 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39168 Q13496 (MTM1) P T 226 rs587783848 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39169 Q13496 (MTM1) V M 227 rs587783850 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39170 Q13496 (MTM1) L P 228 rs587783851 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39171 Q13496 (MTM1) S P 229 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39172 Q13496 (MTM1) W C 230 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39173 Q13496 (MTM1) H R 232 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39174 Q13496 (MTM1) R C 241 rs132630305 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39175 Q13496 (MTM1) R L 241 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39176 Q13496 (MTM1) I S 264 rs587783856 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39177 Q13496 (MTM1) A G 279 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39178 Q13496 (MTM1) M R 317 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39179 Q13496 (MTM1) W C 346 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39180 Q13496 (MTM1) W S 346 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39181 Q13496 (MTM1) V G 364 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39182 Q13496 (MTM1) H D 374 rs587783754 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39183 Q13496 (MTM1) S N 376 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39184 Q13496 (MTM1) G E 378 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39185 Q13496 (MTM1) G R 378 rs587783755 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39186 Q13496 (MTM1) S Y 387 rs587783759 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39187 Q13496 (MTM1) A D 389 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39188 Q13496 (MTM1) L P 391 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39189 Q13496 (MTM1) Y C 397 rs132630303 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39190 Q13496 (MTM1) G A 402 rs587783762 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39191 Q13496 (MTM1) G R 402 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39192 Q13496 (MTM1) G V 402 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39193 Q13496 (MTM1) E K 404 rs781933660 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39194 Q13496 (MTM1) L P 406 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39195 Q13496 (MTM1) W C 411 rs587783764 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39196 Q13496 (MTM1) R Q 421 rs587783772 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39197 Q13496 (MTM1) D N 431 rs886044782 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39198 Q13496 (MTM1) D N 433 rs886044783 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39199 Q13496 (MTM1) C Y 444 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39200 Q13496 (MTM1) H P 469 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39201 Q13496 (MTM1) L P 470 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39202 Q13496 (MTM1) N Y 481 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39203 Q13496 (MTM1) W R 499 rs587783801 Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39204 Q13496 (MTM1) K N 510 - Disease: Myopathy, centronuclea r, X-linked (CNMX) [MIM:310400]
39205 Q13501 (SQSTM1) A V 16 - Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39206 Q13501 (SQSTM1) A V 17 rs141502868 Benign
39207 Q13501 (SQSTM1) A V 33 rs200396166 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39208 Q13501 (SQSTM1) D E 80 rs148366738 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39209 Q13501 (SQSTM1) V M 90 rs181263868 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39210 Q13501 (SQSTM1) K R 103 rs748170760 Benign
39211 Q13501 (SQSTM1) R Q 107 - Benign
39212 Q13501 (SQSTM1) R W 107 rs771903158 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39213 Q13501 (SQSTM1) D Y 108 - Benign
39214 Q13501 (SQSTM1) R H 110 rs1267306593 Benign
39215 Q13501 (SQSTM1) A V 117 rs147810437 Benign
39216 Q13501 (SQSTM1) P S 118 rs200152247 Benign
39217 Q13501 (SQSTM1) R G 119 rs548787835 Benign
39218 Q13501 (SQSTM1) N S 125 rs769325755 Benign
39219 Q13501 (SQSTM1) D N 129 rs753212399 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39220 Q13501 (SQSTM1) R C 139 rs750256905 Benign
39221 Q13501 (SQSTM1) V I 153 rs145056421 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39222 Q13501 (SQSTM1) S L 180 - Benign
39223 Q13501 (SQSTM1) R C 212 rs201263163 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39224 Q13501 (SQSTM1) R H 217 rs761822261 Benign
39225 Q13501 (SQSTM1) G V 219 - Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39226 Q13501 (SQSTM1) S P 226 rs765200636 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39227 Q13501 (SQSTM1) P L 228 rs151191977 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39228 Q13501 (SQSTM1) P T 232 rs1225746517 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39229 Q13501 (SQSTM1) K E 238 rs11548633 Benign
39230 Q13501 (SQSTM1) D N 258 rs774986849 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39231 Q13501 (SQSTM1) E D 274 rs55793208 Benign
39232 Q13501 (SQSTM1) E Q 274 - Benign
39233 Q13501 (SQSTM1) T I 278 rs200445838 Benign
39234 Q13501 (SQSTM1) A V 308 rs541356917 Benign
39235 Q13501 (SQSTM1) S P 318 - Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39236 Q13501 (SQSTM1) E K 319 rs61748794 Benign
39237 Q13501 (SQSTM1) R C 321 rs140226523 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39238 Q13501 (SQSTM1) D G 329 rs148294622 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39239 Q13501 (SQSTM1) P L 348 rs772889843 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39240 Q13501 (SQSTM1) S T 349 rs774512680 Benign
39241 Q13501 (SQSTM1) S P 370 rs143956614 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39242 Q13501 (SQSTM1) A V 381 rs772122047 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39243 Q13501 (SQSTM1) P L 387 rs776749939 Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39244 Q13501 (SQSTM1) P L 392 rs104893941 Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39245 Q13501 (SQSTM1) S P 399 - Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39246 Q13501 (SQSTM1) M T 404 rs1247551175 Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39247 Q13501 (SQSTM1) M V 404 rs771966860 Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39248 Q13501 (SQSTM1) G S 411 rs143511494 Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39249 Q13501 (SQSTM1) G R 425 rs757212984 Disease: Paget disease of bone 3 (PDB3) [MIM:167250]
39250 Q13501 (SQSTM1) T P 430 rs770118706 Disease: Frontotempor al dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437]
39251 Q13501 (SQSTM1) P L 439 rs199854262 Benign
39252 Q13505 (MTX1) S T 63 rs760077 Benign
39253 Q13507 (TRPC3) R H 762 - Disease: Spinocerebel lar ataxia 41 (SCA41) [MIM:616410]
39254 Q13508 (ART3) S L 363 rs1128864 Benign
39255 Q13509 (TUBB3) R Q 62 rs864321714 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39256 Q13509 (TUBB3) T M 178 rs747480526 Disease: Cortical dysplasia, complex, with other brain malformation s 1 (CDCBM1) [MIM:614039]
39257 Q13509 (TUBB3) E K 205 rs878853257 Disease: Cortical dysplasia, complex, with other brain malformation s 1 (CDCBM1) [MIM:614039]
39258 Q13509 (TUBB3) R C 262 rs267607162 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39259 Q13509 (TUBB3) R H 262 rs864321716 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39260 Q13509 (TUBB3) A T 302 rs267607163 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39261 Q13509 (TUBB3) A V 302 rs878853258 Disease: Cortical dysplasia, complex, with other brain malformation s 1 (CDCBM1) [MIM:614039]
39262 Q13509 (TUBB3) M V 323 rs878853256 Disease: Cortical dysplasia, complex, with other brain malformation s 1 (CDCBM1) [MIM:614039]
39263 Q13509 (TUBB3) R C 380 rs864321717 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39264 Q13509 (TUBB3) E K 410 rs267607165 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39265 Q13509 (TUBB3) D H 417 rs267607164 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39266 Q13509 (TUBB3) D N 417 rs267607164 Disease: Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]
39267 Q13510 (ASAH1) Q H 22 - Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39268 Q13510 (ASAH1) H D 23 - Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39269 Q13510 (ASAH1) Y C 36 rs137853595 Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39270 Q13510 (ASAH1) T M 42 rs145873635 Disease: Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]
39271 Q13510 (ASAH1) A V 70 rs10103355 Benign
39272 Q13510 (ASAH1) V M 72 rs1071645 Benign
39273 Q13510 (ASAH1) V M 88 rs1071645 Benign
39274 Q13510 (ASAH1) I V 93 rs1049874 Benign
39275 Q13510 (ASAH1) V E 97 - Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39276 Q13510 (ASAH1) V G 97 - Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39277 Q13510 (ASAH1) D E 124 rs2472205 Benign
39278 Q13510 (ASAH1) E V 138 rs137853594 Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39279 Q13510 (ASAH1) K N 152 rs200455852 Disease: Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]
39280 Q13510 (ASAH1) G W 168 - Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39281 Q13510 (ASAH1) L V 182 rs137853597 Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39282 Q13510 (ASAH1) T K 222 rs137853593 Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39283 Q13510 (ASAH1) G R 235 rs1554808625 Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39284 Q13510 (ASAH1) V A 246 rs10103355 Benign
39285 Q13510 (ASAH1) N D 320 rs137853596 Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39286 Q13510 (ASAH1) P R 362 - Disease: Farber lipogranulom atosis (FRBRL) [MIM:228000]
39287 Q13510 (ASAH1) V I 369 rs17636067 Benign
39288 Q13515 (BFSP2) R W 287 rs104893685 Disease: Cataract 12, multiple types (CTRCT12) [MIM:611597]
39289 Q13520 (AQP6) V I 234 rs17124220 Benign
39290 Q13522 (PPP1R1A) E G 109 rs1249958 Benign
39291 Q13522 (PPP1R1A) G D 147 rs34376731 Benign
39292 Q13523 (PRPF4B) I V 83 rs9503893 Benign
39293 Q13523 (PRPF4B) I V 584 rs56267049 Benign
39294 Q13530 (SERINC3) T A 437 - Benign
39295 Q13535 (ATR) T A 64 rs35306038 Benign
39296 Q13535 (ATR) H Y 90 rs28897763 Benign
39297 Q13535 (ATR) M T 211 rs2227928 Benign
39298 Q13535 (ATR) K N 297 rs2229033 Benign
39299 Q13535 (ATR) V I 316 rs28897764 Benign
39300 Q13535 (ATR) V M 959 rs28910271 Benign
39301 Q13535 (ATR) Y H 1087 rs34253059 Benign
39302 Q13535 (ATR) S G 1213 rs34766606 Benign
39303 Q13535 (ATR) I V 1526 rs34124242 Benign
39304 Q13535 (ATR) S N 1607 rs55724025 Benign
39305 Q13535 (ATR) N S 1612 rs55894265 Benign
39306 Q13535 (ATR) G A 2120 rs35134774 Benign
39307 Q13535 (ATR) Y D 2132 rs28910273 Benign
39308 Q13535 (ATR) Q R 2144 rs387906797 Disease: Cutaneous telangiectas ia and cancer syndrome, familial (FCTCS) [MIM:614564]
39309 Q13535 (ATR) R Q 2425 rs2229032 Benign
39310 Q13535 (ATR) P A 2434 rs33972295 Benign
39311 Q13546 (RIPK1) E K 234 rs17548383 Benign
39312 Q13546 (RIPK1) D H 324 - Disease: -
39313 Q13546 (RIPK1) D N 324 - Disease: -
39314 Q13546 (RIPK1) D Y 324 - Disease: -
39315 Q13546 (RIPK1) A S 404 rs34872409 Benign
39316 Q13546 (RIPK1) A V 438 rs3173519 Benign
39317 Q13546 (RIPK1) A V 443 rs35722193 Benign
39318 Q13546 (RIPK1) A V 569 rs55861377 Benign
39319 Q13554 (CAMK2B) E K 110 rs1554402092 Disease: Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
39320 Q13554 (CAMK2B) P L 139 rs1554389088 Disease: Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
39321 Q13554 (CAMK2B) P L 213 rs1554387293 Disease: Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
39322 Q13554 (CAMK2B) E K 237 rs1554386687 Disease: Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
39323 Q13554 (CAMK2B) R S 284 rs1554385203 Disease: Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
39324 Q13554 (CAMK2B) K E 301 rs1554385111 Disease: Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799]
39325 Q13554 (CAMK2B) E K 510 rs35452727 Benign
39326 Q13555 (CAMK2G) S P 36 rs17853266 Benign
39327 Q13555 (CAMK2G) R P 292 rs397514627 Disease: Intellectual developmenta l disorder 59 (MRD59) [MIM:618522]
39328 Q13557 (CAMK2D) D E 167 rs35367671 Benign
39329 Q13557 (CAMK2D) Q E 463 rs1053668 Benign
39330 Q13557 (CAMK2D) T I 493 rs35765784 Benign
39331 Q13562 (NEUROD1) T A 45 rs1801262 Benign
39332 Q13562 (NEUROD1) R P 103 - Disease: Maturity- onset diabetes of the young 6 (MODY6) [MIM:606394]
39333 Q13562 (NEUROD1) R L 111 rs104893649 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
39334 Q13562 (NEUROD1) P H 197 rs8192556 Benign
39335 Q13563 (PKD2) P L 24 rs1004860210 Benign
39336 Q13563 (PKD2) R P 28 rs1805044 Benign
39337 Q13563 (PKD2) A T 190 rs117078377 Benign
39338 Q13563 (PKD2) R Q 306 rs990932947 Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39339 Q13563 (PKD2) R Q 322 rs145877597 Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39340 Q13563 (PKD2) R W 322 rs1553925453 Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39341 Q13563 (PKD2) A P 356 - Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39342 Q13563 (PKD2) A P 384 - Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39343 Q13563 (PKD2) W G 414 - Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39344 Q13563 (PKD2) R G 420 - Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39345 Q13563 (PKD2) I V 452 rs1801612 Benign
39346 Q13563 (PKD2) F C 482 rs75762896 Benign
39347 Q13563 (PKD2) D V 511 rs121918043 Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39348 Q13563 (PKD2) C R 632 - Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39349 Q13563 (PKD2) M L 800 rs2234917 Benign
39350 Q13563 (PKD2) R Q 807 rs147654263 Disease: Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095]
39351 Q13564 (NAE1) S F 101 rs363212 Benign
39352 Q13569 (TDG) G S 199 rs4135113 Benign
39353 Q13569 (TDG) V L 367 rs2888805 Benign
39354 Q13569 (TDG) V M 367 rs2888805 Benign
39355 Q13569 (TDG) G E 381 rs3953597 Benign
39356 Q13571 (LAPTM5) R K 226 rs35351292 Benign
39357 Q13574 (DGKZ) Q K 523 rs17854149 Benign
39358 Q13576 (IQGAP2) V A 455 rs7722711 Benign
39359 Q13576 (IQGAP2) P R 479 rs3822530 Benign
39360 Q13576 (IQGAP2) D E 527 rs2431352 Benign
39361 Q13576 (IQGAP2) K E 532 rs2909888 Benign
39362 Q13576 (IQGAP2) L F 629 rs2455230 Benign
39363 Q13576 (IQGAP2) R W 714 rs35366349 Benign
39364 Q13576 (IQGAP2) I V 724 rs2431363 Benign
39365 Q13576 (IQGAP2) T I 894 rs34950321 Benign
39366 Q13576 (IQGAP2) R I 1052 rs2287932 Benign
39367 Q13576 (IQGAP2) N S 1184 rs10454915 Benign
39368 Q13576 (IQGAP2) R W 1379 rs17681908 Benign
39369 Q13576 (IQGAP2) Y C 1445 rs369078465 Benign
39370 Q13576 (IQGAP2) M I 1530 rs150409607 Benign
39371 Q13585 (GPR50) T A 532 rs561077 Benign
39372 Q13585 (GPR50) I V 606 rs13440581 Benign
39373 Q13586 (STIM1) H Q 72 rs397515436 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39374 Q13586 (STIM1) N T 80 rs748277951 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39375 Q13586 (STIM1) G D 81 - Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39376 Q13586 (STIM1) D G 84 rs397514675 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39377 Q13586 (STIM1) L V 96 - Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39378 Q13586 (STIM1) F I 108 - Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39379 Q13586 (STIM1) F L 108 - Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39380 Q13586 (STIM1) H N 109 rs397514676 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39381 Q13586 (STIM1) H R 109 rs397514677 Disease: Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565]
39382 Q13586 (STIM1) I F 115 rs527236030 Disease: Stormorken syndrome (STRMK) [MIM:185070]
39383 Q13586 (STIM1) R W 304 rs483352867 Disease: Stormorken syndrome (STRMK) [MIM:185070]
39384 Q13586 (STIM1) R C 426 rs1057519505 Disease: -
39385 Q13586 (STIM1) R C 429 rs397514671 Disease: Immunodefici ency 10 (IMD10) [MIM:612783]
39386 Q13586 (STIM1) P S 538 rs35960304 Benign
39387 Q13588 (GRAP) Q L 104 rs370564476 Disease: Deafness, autosomal recessive, 114 (DFNB114) [MIM:618456]
39388 Q13591 (SEMA5A) V L 246 rs1806079 Benign
39389 Q13591 (SEMA5A) S L 792 rs2290734 Benign
39390 Q13596 (SNX1) S Y 115 rs1049501 Benign
39391 Q13596 (SNX1) D N 466 rs1802376 Benign
39392 Q13601 (KRR1) R Q 134 rs11540407 Benign
39393 Q13606 (OR5I1) R G 6 rs17597625 Benign
39394 Q13606 (OR5I1) L S 50 rs4367963 Benign
39395 Q13606 (OR5I1) F S 76 rs9666086 Benign
39396 Q13606 (OR5I1) V I 306 rs9665861 Benign
39397 Q13607 (OR2F1) R C 122 rs2072164 Benign
39398 Q13607 (OR2F1) H R 137 rs2072165 Benign
39399 Q13608 (PEX6) A P 79 rs61752141 Benign
39400 Q13608 (PEX6) P L 274 rs61753219 Disease: Heimler syndrome 2 (HMLR2) [MIM:616617]
39401 Q13608 (PEX6) G V 413 rs1554127531 Disease: Peroxisome biogenesis disorder complementat ion group 4 (PBD-CG4) [MIM:614862]
39402 Q13608 (PEX6) L P 534 rs387906809 Disease: Peroxisome biogenesis disorder complementat ion group 4 (PBD-CG4) [MIM:614862]
39403 Q13608 (PEX6) T I 572 rs61753224 Disease: Heimler syndrome 2 (HMLR2) [MIM:616617]
39404 Q13608 (PEX6) R W 644 rs769896492 Disease: Heimler syndrome 2 (HMLR2) [MIM:616617]
39405 Q13608 (PEX6) A V 809 rs35830695 Benign
39406 Q13608 (PEX6) R Q 812 rs61753229 Disease: Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]
39407 Q13608 (PEX6) R W 812 rs61753228 Disease: Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862]
39408 Q13608 (PEX6) N T 849 rs267608244 Disease: Peroxisome biogenesis disorder complementat ion group 4 (PBD-CG4) [MIM:614862]
39409 Q13608 (PEX6) R Q 860 rs61753231 Disease: Peroxisome biogenesis disorder complementat ion group 4 (PBD-CG4) [MIM:614862]
39410 Q13608 (PEX6) R W 860 rs61753230 Disease: Peroxisome biogenesis disorder complementat ion group 4 (PBD-CG4) [MIM:614862]
39411 Q13608 (PEX6) V I 882 rs2274516 Benign
39412 Q13608 (PEX6) C F 905 rs886037782 Disease: Heimler syndrome 2 (HMLR2) [MIM:616617]
39413 Q13608 (PEX6) A S 924 rs34551839 Benign
39414 Q13608 (PEX6) P Q 939 rs1129187 Benign
39415 Q13609 (DNASE1L3) N K 96 rs12491947 Benign
39416 Q13609 (DNASE1L3) R C 206 rs35677470 Benign
39417 Q13609 (DNASE1L3) I M 243 rs76440799 Benign
39418 Q13610 (PWP1) L F 288 rs11547907 Benign
39419 Q13614 (MTMR2) K T 3 rs3824874 Benign
39420 Q13614 (MTMR2) R W 283 - Disease: Charcot- Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]
39421 Q13614 (MTMR2) N S 545 rs558018 Benign
39422 Q13617 (CUL2) N S 109 - Benign
39423 Q13618 (CUL3) D H 13 rs2969802 Benign
39424 Q13618 (CUL3) R S 184 rs17480168 Benign
39425 Q13618 (CUL3) D G 413 rs199469656 Disease: Pseudohypoal dosteronism 2E (PHA2E) [MIM:614496]
39426 Q13618 (CUL3) K R 459 rs199469658 Disease: Pseudohypoal dosteronism 2E (PHA2E) [MIM:614496]
39427 Q13618 (CUL3) V I 567 rs3738952 Benign
39428 Q13619 (CUL4A) K R 644 rs2302757 Benign
39429 Q13620 (CUL4B) L P 103 rs61759504 Benign
39430 Q13620 (CUL4B) R C 572 rs121434615 Disease: Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]
39431 Q13620 (CUL4B) V A 745 - Disease: Mental retardation, X-linked, syndromic, 15 (MRXS15) [MIM:300354]
39432 Q13621 (SLC12A1) V F 272 rs137853158 Disease: Bartter syndrome 1, antenatal (BARTS1) [MIM:601678]
39433 Q13621 (SLC12A1) D N 648 rs137853157 Disease: Bartter syndrome 1, antenatal (BARTS1) [MIM:601678]
39434 Q13621 (SLC12A1) V A 958 rs1552311 Benign
39435 Q13627 (DYRK1A) Y F 415 - Benign
39436 Q13627 (DYRK1A) A P 679 rs55720916 Benign
39437 Q13627 (DYRK1A) Q H 681 - Benign
39438 Q13635 (PTCH1) L P 175 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39439 Q13635 (PTCH1) T P 230 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39440 Q13635 (PTCH1) F S 376 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39441 Q13635 (PTCH1) A T 393 rs199476091 Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39442 Q13635 (PTCH1) A G 443 rs878853845 Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39443 Q13635 (PTCH1) G V 509 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39444 Q13635 (PTCH1) D Y 513 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39445 Q13635 (PTCH1) T M 728 rs115556836 Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39446 Q13635 (PTCH1) V G 751 - Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39447 Q13635 (PTCH1) S G 827 rs199476092 Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39448 Q13635 (PTCH1) V G 908 rs199476093 Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39449 Q13635 (PTCH1) T M 1052 rs138911275 Disease: Holoprosence phaly 7 (HPE7) [MIM:610828]
39450 Q13635 (PTCH1) G R 1069 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39451 Q13635 (PTCH1) R W 1114 rs587776689 Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39452 Q13635 (PTCH1) S P 1132 rs878853856 Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39453 Q13635 (PTCH1) S Y 1132 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39454 Q13635 (PTCH1) T S 1195 rs2236405 Benign
39455 Q13635 (PTCH1) P L 1282 rs2227968 Benign
39456 Q13635 (PTCH1) P L 1315 rs357564 Benign
39457 Q13635 (PTCH1) E D 1438 - Disease: Basal cell nevus syndrome (BCNS) [MIM:109400]
39458 Q13639 (HTR4) C Y 372 rs34826744 Benign
39459 Q13642 (FHL1) W S 122 rs122458140 Disease: Scapuloperon eal myopathy, X-linked dominant (SPM) [MIM:300695]
39460 Q13642 (FHL1) H L 123 rs267606812 Disease: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
39461 Q13642 (FHL1) H Q 123 rs267606813 Disease: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
39462 Q13642 (FHL1) H Y 123 rs122458142 Disease: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
39463 Q13642 (FHL1) C F 132 rs122458143 Disease: Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A) [MIM:300717]
39464 Q13642 (FHL1) C S 150 - Disease: Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
39465 Q13642 (FHL1) C R 153 rs122458144 Disease: Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
39466 Q13642 (FHL1) C Y 153 rs122458145 Disease: Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B) [MIM:300718]
39467 Q13642 (FHL1) H P 154 - Disease: Scapuloperon eal myopathy, X-linked dominant (SPM) [MIM:300695]
39468 Q13642 (FHL1) C R 209 rs122459149 Disease: Emery- Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]
39469 Q13642 (FHL1) C W 224 rs122458141 Disease: Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]
39470 Q13642 (FHL1) C Y 276 - Disease: Emery- Dreifuss muscular dystrophy 6, X-linked (EDMD6) [MIM:300696]
39471 Q13642 (FHL1) V M 280 rs267606811 Disease: Myopathy, X-linked, with postural muscle atrophy (XMPMA) [MIM:300696]
39472 Q13651 (IL10RA) L V 61 rs4252250 Benign
39473 Q13651 (IL10RA) W R 69 rs1343534194 Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39474 Q13651 (IL10RA) T I 84 rs137853580 Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39475 Q13651 (IL10RA) Y C 91 - Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39476 Q13651 (IL10RA) R W 101 rs368287711 Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39477 Q13651 (IL10RA) V I 113 rs4252303 Benign
39478 Q13651 (IL10RA) R H 117 rs199989396 Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39479 Q13651 (IL10RA) G R 141 rs137853579 Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39480 Q13651 (IL10RA) S G 159 rs3135932 Benign
39481 Q13651 (IL10RA) R Q 212 rs4252273 Benign
39482 Q13651 (IL10RA) I V 224 rs2228055 Benign
39483 Q13651 (IL10RA) R C 262 rs149491038 Disease: Inflammatory bowel disease 28 (IBD28) [MIM:613148]
39484 Q13651 (IL10RA) R G 351 rs2229113 Benign
39485 Q13651 (IL10RA) P S 353 rs35235073 Benign
39486 Q13651 (IL10RA) S L 420 rs2229114 Benign
39487 Q13683 (ITGA7) I V 457 rs17857367 Benign
39488 Q13683 (ITGA7) L M 506 rs17854599 Benign
39489 Q13683 (ITGA7) R H 586 rs17854598 Benign
39490 Q13683 (ITGA7) R H 695 rs1800974 Benign
39491 Q13683 (ITGA7) A V 696 rs17855684 Benign
39492 Q13685 (AAMP) I V 250 rs2305835 Benign
39493 Q13686 (ALKBH1) M I 135 rs17825440 Benign
39494 Q13686 (ALKBH1) M L 324 rs6494 Benign
39495 Q13698 (CACNA1S) A G 69 rs12406479 Benign
39496 Q13698 (CACNA1S) L H 458 rs12742169 Benign
39497 Q13698 (CACNA1S) R G 528 rs80338778 Disease: Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
39498 Q13698 (CACNA1S) R H 528 rs80338777 Disease: Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
39499 Q13698 (CACNA1S) R S 900 - Disease: Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
39500 Q13698 (CACNA1S) R H 1086 rs1800559 Disease: Malignant hyperthermia 5 (MHS5) [MIM:601887]
39501 Q13698 (CACNA1S) R G 1239 rs28930069 Disease: Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
39502 Q13698 (CACNA1S) R H 1239 rs28930068 Disease: Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
39503 Q13698 (CACNA1S) R C 1539 rs3850625 Benign
39504 Q13698 (CACNA1S) R H 1658 rs13374149 Benign
39505 Q13698 (CACNA1S) L S 1800 rs12139527 Benign
39506 Q13698 (CACNA1S) E D 1840 rs1042379 Benign
39507 Q13702 (RAPSN) Q K 8 rs11556408 Benign
39508 Q13702 (RAPSN) L P 14 rs104894300 Disease: Myasthenic syndrome, congenital, 11, associated with acetylcholin e receptor deficiency (CMS11) [MIM:616326]
39509 Q13702 (RAPSN) V M 45 rs121909254 Disease: Myasthenic syndrome, congenital, 11, associated with acetylcholin e receptor deficiency (CMS11) [MIM:616326]
39510 Q13702 (RAPSN) F L 81 rs57878668 Benign
39511 Q13702 (RAPSN) N K 88 rs104894299 Disease: Myasthenic syndrome, congenital, 11, associated with acetylcholin e receptor deficiency (CMS11) [MIM:616326]
39512 Q13702 (RAPSN) F S 139 rs121909256 Disease: Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388]
39513 Q13702 (RAPSN) E K 162 rs121909255 Disease: Myasthenic syndrome, congenital, 11, associated with acetylcholin e receptor deficiency (CMS11) [MIM:616326]
39514 Q13702 (RAPSN) R C 164 rs104894294 Disease: Myasthenic syndrome, congenital, 11, associated with acetylcholin e receptor deficiency (CMS11) [MIM:616326]
39515 Q13702 (RAPSN) A V 189 rs121909257 Disease: Fetal akinesia deformation sequence 2 (FADS2) [MIM:618388]
39516 Q13702 (RAPSN) L P 283 rs104894293 Disease: Myasthenic syndrome, congenital, 11, associated with acetylcholin e receptor deficiency (CMS11) [MIM:616326]
39517 Q13705 (ACVR2B) R H 40 rs121434437 Disease: Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
39518 Q13705 (ACVR2B) P R 176 rs35882617 Benign
39519 Q13705 (ACVR2B) E D 459 rs500611 Benign
39520 Q13705 (ACVR2B) V I 494 rs121434438 Disease: Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
39521 Q13724 (MOGS) G R 222 rs3213671 Benign
39522 Q13724 (MOGS) E Q 236 rs1063587 Benign
39523 Q13724 (MOGS) D N 239 rs1063588 Benign
39524 Q13724 (MOGS) P S 293 rs2268416 Benign
39525 Q13724 (MOGS) R T 486 rs121909291 Disease: Type IIb congenital disorder of glycosylatio n (CDGIIb) [MIM:606056]
39526 Q13724 (MOGS) R P 495 rs34075781 Benign
39527 Q13724 (MOGS) F L 652 rs121909292 Disease: Type IIb congenital disorder of glycosylatio n (CDGIIb) [MIM:606056]
39528 Q13724 (MOGS) G S 785 rs35533773 Benign
39529 Q13733 (ATP1A4) G D 83 rs6427504 Benign
39530 Q13733 (ATP1A4) E K 297 rs17368402 Benign
39531 Q13733 (ATP1A4) M R 541 rs16831482 Benign
39532 Q13733 (ATP1A4) M I 586 rs7528360 Benign
39533 Q13740 (ALCAM) G D 229 rs10933819 Benign
39534 Q13740 (ALCAM) N S 258 rs1044240 Benign
39535 Q13740 (ALCAM) T M 301 rs1044243 Benign
39536 Q13740 (ALCAM) L M 315 rs12629872 Benign
39537 Q13740 (ALCAM) V M 352 rs2291375 Benign
39538 Q13740 (ALCAM) M I 367 rs34926152 Benign
39539 Q13751 (LAMB3) N D 181 rs2235542 Benign
39540 Q13751 (LAMB3) G A 199 rs121912486 Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
39541 Q13751 (LAMB3) K Q 207 rs121912487 Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
39542 Q13751 (LAMB3) E K 210 rs121912482 Disease: Generalized atrophic benign epidermolysi s bullosa (GABEB) [MIM:226650]
39543 Q13751 (LAMB3) R L 292 rs12091253 Benign
39544 Q13751 (LAMB3) S T 438 rs2229468 Benign
39545 Q13751 (LAMB3) V M 527 rs2076349 Benign
39546 Q13751 (LAMB3) P L 679 rs201223111 Disease: Epidermolysi s bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]
39547 Q13751 (LAMB3) N S 690 rs2229466 Benign
39548 Q13751 (LAMB3) M L 852 rs12748250 Benign
39549 Q13751 (LAMB3) A D 926 rs2076222 Benign
39550 Q13751 (LAMB3) R W 988 rs2229467 Benign
39551 Q13753 (LAMC2) A P 111 rs12065473 Benign
39552 Q13753 (LAMC2) R Q 115 rs17481405 Benign
39553 Q13753 (LAMC2) T M 124 rs11586699 Benign
39554 Q13753 (LAMC2) D V 136 rs12037099 Benign
39555 Q13753 (LAMC2) D E 247 rs2296306 Benign
39556 Q13753 (LAMC2) S I 608 rs4373715 Benign
39557 Q13753 (LAMC2) S T 733 rs2296303 Benign
39558 Q13769 (THOC5) T S 475 rs8141153 Benign
39559 Q13769 (THOC5) V I 525 rs737976 Benign
39560 Q13769 (THOC5) V I 579 rs1049534 Benign
39561 Q13772 (NCOA4) S L 94 rs782517064 Benign
39562 Q13772 (NCOA4) F L 154 - Benign
39563 Q13772 (NCOA4) C R 350 - Benign
39564 Q13772 (NCOA4) P R 474 rs1132111 Benign
39565 Q13772 (NCOA4) L P 561 - Benign
39566 Q13790 (APOF) A G 178 rs11575216 Benign
39567 Q13796 (SHROOM2) D E 942 rs16985780 Benign
39568 Q13796 (SHROOM2) I V 1475 rs12012202 Benign
39569 Q13796 (SHROOM2) L F 1607 rs2073942 Benign
39570 Q13797 (ITGA9) G E 507 rs267561 Benign
39571 Q13813 (SPTAN1) N S 385 rs2227863 Benign
39572 Q13813 (SPTAN1) I T 1300 rs1048236 Benign
39573 Q13822 (ENPP2) S P 493 rs10283100 Benign
39574 Q13822 (ENPP2) N S 577 rs2289886 Benign
39575 Q13822 (ENPP2) S L 726 rs16892767 Benign
39576 Q13823 (GNL2) Q H 452 rs12025870 Benign
39577 Q13825 (AUH) A V 240 rs769894315 Disease: 3-methylglut aconic aciduria 1 (MGCA1) [MIM:250950]
39578 Q13835 (PKP1) R H 116 rs34626929 Benign
39579 Q13835 (PKP1) C Y 161 rs34704938 Benign
39580 Q13835 (PKP1) I V 196 rs35507614 Benign
39581 Q13835 (PKP1) G D 415 rs1626370 Benign
39582 Q13835 (PKP1) A V 463 rs10920171 Benign
39583 Q13867 (BLMH) I V 443 rs1050565 Benign
39584 Q13868 (EXOSC2) G V 30 rs537467155 Disease: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763]
39585 Q13868 (EXOSC2) G D 198 - Disease: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763]
39586 Q13873 (BMPR2) C Y 60 rs1085307172 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39587 Q13873 (BMPR2) Y C 67 rs1085307177 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39588 Q13873 (BMPR2) Q H 82 rs1085307185 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39589 Q13873 (BMPR2) C F 84 rs1085307197 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39590 Q13873 (BMPR2) C Y 117 rs1085307215 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39591 Q13873 (BMPR2) C W 118 rs137852743 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39592 Q13873 (BMPR2) C R 123 rs137852750 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39593 Q13873 (BMPR2) C S 123 rs137852750 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39594 Q13873 (BMPR2) G D 182 rs137852754 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39595 Q13873 (BMPR2) E D 224 rs754343081 Benign
39596 Q13873 (BMPR2) C Y 347 rs137852744 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39597 Q13873 (BMPR2) C R 420 rs1085307324 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39598 Q13873 (BMPR2) C R 483 rs1085307354 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39599 Q13873 (BMPR2) D G 485 rs137852745 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39600 Q13873 (BMPR2) R Q 491 rs137852749 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39601 Q13873 (BMPR2) R W 491 rs137852746 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39602 Q13873 (BMPR2) K T 512 rs1085307364 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39603 Q13873 (BMPR2) N K 519 rs1085307365 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39604 Q13873 (BMPR2) S N 775 rs2228545 Benign
39605 Q13873 (BMPR2) S N 863 rs1006246556 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39606 Q13873 (BMPR2) R P 899 rs137852752 Disease: Pulmonary hypertension , primary, 1 (PPH1) [MIM:178600]
39607 Q13882 (PTK6) A T 436 rs56145017 Benign
39608 Q13885 (TUBB2A) N K 247 rs886037663 Disease: Cortical dysplasia, complex, with other brain malformation s 5 (CDCBM5) [MIM:615763]
39609 Q13885 (TUBB2A) A V 248 rs2808001 Disease: Cortical dysplasia, complex, with other brain malformation s 5 (CDCBM5) [MIM:615763]
39610 Q13888 (GTF2H2) I M 151 rs2576895 Benign
39611 Q13888 (GTF2H2) V L 236 rs201102513 Benign
39612 Q13895 (BYSL) E K 103 rs2296916 Benign
39613 Q13895 (BYSL) P S 426 rs3828855 Benign
39614 Q13901 (C1D) S P 127 rs10444 Benign
39615 Q13936 (CACNA1C) G R 37 - Benign
39616 Q13936 (CACNA1C) Q R 84 rs1051345 Benign
39617 Q13936 (CACNA1C) I T 304 - Benign
39618 Q13936 (CACNA1C) I L 391 rs1051356 Benign
39619 Q13936 (CACNA1C) G S 402 - Disease: Timothy syndrome (TS) [MIM:601005]
39620 Q13936 (CACNA1C) G R 406 - Disease: Timothy syndrome (TS) [MIM:601005]
39621 Q13936 (CACNA1C) E K 477 - Benign
39622 Q13936 (CACNA1C) R C 518 - Disease: Timothy syndrome (TS) [MIM:601005]
39623 Q13936 (CACNA1C) R H 518 - Disease: Timothy syndrome (TS) [MIM:601005]
39624 Q13936 (CACNA1C) A D 582 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39625 Q13936 (CACNA1C) A T 752 - Benign
39626 Q13936 (CACNA1C) P S 817 - Benign
39627 Q13936 (CACNA1C) P L 857 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39628 Q13936 (CACNA1C) P R 857 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39629 Q13936 (CACNA1C) R H 858 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39630 Q13936 (CACNA1C) R G 860 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39631 Q13936 (CACNA1C) I T 1186 - Disease: Timothy syndrome (TS) [MIM:601005]
39632 Q13936 (CACNA1C) I V 1186 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39633 Q13936 (CACNA1C) A T 1365 - Benign
39634 Q13936 (CACNA1C) I M 1523 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39635 Q13936 (CACNA1C) E K 1544 - Disease: Long QT syndrome 8 (LQT8) [MIM:618447]
39636 Q13936 (CACNA1C) V I 1755 - Benign
39637 Q13936 (CACNA1C) A G 1765 - Benign
39638 Q13936 (CACNA1C) D N 1787 - Benign
39639 Q13936 (CACNA1C) T M 1835 - Benign
39640 Q13936 (CACNA1C) G A 1843 - Benign
39641 Q13936 (CACNA1C) P L 1868 rs10848683 Benign
39642 Q13936 (CACNA1C) M V 1869 rs10774053 Benign
39643 Q13936 (CACNA1C) K R 1893 rs10774054 Benign
39644 Q13936 (CACNA1C) E K 1948 - Benign
39645 Q13936 (CACNA1C) R C 1972 - Benign
39646 Q13936 (CACNA1C) R Q 2056 - Benign
39647 Q13936 (CACNA1C) T N 2081 - Benign
39648 Q13936 (CACNA1C) A G 2122 - Benign
39649 Q13936 (CACNA1C) A T 2169 - Benign
39650 Q13936 (CACNA1C) N S 2174 - Benign
39651 Q13938 (CAPS) R G 125 rs7249419 Benign
39652 Q13939 (CCIN) S N 75 rs34789048 Benign
39653 Q13946 (PDE7A) G E 76 rs11557049 Benign
39654 Q13948 (CUX1) A T 464 rs803064 Benign
39655 Q13948 (CUX1) I V 545 rs2230103 Benign
39656 Q13950 (RUNX2) Q L 53 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39657 Q13950 (RUNX2) L R 113 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39658 Q13950 (RUNX2) S N 118 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39659 Q13950 (RUNX2) S R 118 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39660 Q13950 (RUNX2) F C 121 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39661 Q13950 (RUNX2) C R 123 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39662 Q13950 (RUNX2) R C 131 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39663 Q13950 (RUNX2) R G 131 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39664 Q13950 (RUNX2) R S 131 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39665 Q13950 (RUNX2) L P 136 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39666 Q13950 (RUNX2) V D 156 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39667 Q13950 (RUNX2) V G 156 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39668 Q13950 (RUNX2) R P 169 rs104893995 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39669 Q13950 (RUNX2) R Q 169 rs104893995 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39670 Q13950 (RUNX2) M K 175 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39671 Q13950 (RUNX2) M R 175 rs104893989 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39672 Q13950 (RUNX2) M V 175 rs201647225 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39673 Q13950 (RUNX2) R T 186 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39674 Q13950 (RUNX2) F S 187 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39675 Q13950 (RUNX2) R Q 190 rs1057521068 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39676 Q13950 (RUNX2) R W 190 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39677 Q13950 (RUNX2) S N 191 rs104893990 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39678 Q13950 (RUNX2) R C 193 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39679 Q13950 (RUNX2) R G 193 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39680 Q13950 (RUNX2) R Q 193 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39681 Q13950 (RUNX2) F S 197 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39682 Q13950 (RUNX2) L F 199 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39683 Q13950 (RUNX2) T A 200 rs104893993 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39684 Q13950 (RUNX2) T I 200 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39685 Q13950 (RUNX2) I K 201 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39686 Q13950 (RUNX2) T R 205 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39687 Q13950 (RUNX2) Q H 209 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39688 Q13950 (RUNX2) Q R 209 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39689 Q13950 (RUNX2) A P 211 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39690 Q13950 (RUNX2) K E 218 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39691 Q13950 (RUNX2) K N 218 rs752933596 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39692 Q13950 (RUNX2) K Q 218 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39693 Q13950 (RUNX2) T I 220 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39694 Q13950 (RUNX2) R L 225 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39695 Q13950 (RUNX2) R Q 225 rs104893991 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39696 Q13950 (RUNX2) R W 225 rs104893992 Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39697 Q13950 (RUNX2) R G 228 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39698 Q13950 (RUNX2) K R 233 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39699 Q13950 (RUNX2) D N 287 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39700 Q13950 (RUNX2) A V 362 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39701 Q13950 (RUNX2) T I 420 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39702 Q13950 (RUNX2) T N 420 - Disease: Cleidocrania l dysplasia (CLCD) [MIM:119600]
39703 Q13950 (RUNX2) G S 511 rs11498198 Benign
39704 Q13976 (PRKG1) R Q 177 rs397515330 Disease: Aortic aneurysm, familial thoracic 8 (AAT8) [MIM:615436]
39705 Q13976 (PRKG1) I V 249 rs56082459 Benign
39706 Q13976 (PRKG1) N S 267 rs34997494 Benign
39707 Q13976 (PRKG1) Y F 474 rs149710600 Benign
39708 Q13976 (PRKG1) G A 666 rs750949508 Benign
39709 Q14002 (CEACAM7) F I 120 rs8102488 Benign
39710 Q14002 (CEACAM7) Y H 236 rs16975478 Benign
39711 Q14002 (CEACAM7) A V 263 rs7259532 Benign
39712 Q14003 (KCNC3) Q H 41 rs185017345 Benign
39713 Q14003 (KCNC3) D G 63 rs375912738 Benign
39714 Q14003 (KCNC3) G D 263 - Benign
39715 Q14003 (KCNC3) R H 420 rs104894699 Disease: Spinocerebel lar ataxia 13 (SCA13) [MIM:605259]
39716 Q14003 (KCNC3) R H 423 rs797044872 Disease: Spinocerebel lar ataxia 13 (SCA13) [MIM:605259]
39717 Q14003 (KCNC3) F L 448 rs104894700 Disease: Spinocerebel lar ataxia 13 (SCA13) [MIM:605259]
39718 Q14003 (KCNC3) V M 535 - Disease: Spinocerebel lar ataxia 13 (SCA13) [MIM:605259]
39719 Q14004 (CDK13) S F 340 rs13622 Benign
39720 Q14004 (CDK13) P A 356 rs17537669 Benign
39721 Q14004 (CDK13) L F 403 rs3735137 Benign
39722 Q14004 (CDK13) R Q 410 rs17496261 Benign
39723 Q14004 (CDK13) T A 494 rs34624759 Benign
39724 Q14004 (CDK13) T A 500 rs3735135 Benign
39725 Q14004 (CDK13) S G 624 rs17496275 Benign
39726 Q14004 (CDK13) T R 670 rs34775357 Benign
39727 Q14004 (CDK13) R L 700 rs1057000 Benign
39728 Q14004 (CDK13) G R 714 rs1057519633 Disease: Congenital heart defects, dysmorphic facial features, and intellectual developmenta l disorder (CHDFIDD) [MIM:617360]
39729 Q14004 (CDK13) G R 717 rs1057519632 Disease: Congenital heart defects, dysmorphic facial features, and intellectual developmenta l disorder (CHDFIDD) [MIM:617360]
39730 Q14004 (CDK13) K E 734 rs1064795731 Disease: Congenital heart defects, dysmorphic facial features, and intellectual developmenta l disorder (CHDFIDD) [MIM:617360]
39731 Q14004 (CDK13) R Q 751 rs1057519634 Disease: Congenital heart defects, dysmorphic facial features, and intellectual developmenta l disorder (CHDFIDD) [MIM:617360]
39732 Q14004 (CDK13) N D 842 rs1554333853 Disease: Congenital heart defects, dysmorphic facial features, and intellectual developmenta l disorder (CHDFIDD) [MIM:617360]
39733 Q14004 (CDK13) N S 842 rs878853160 Disease: Congenital heart defects, dysmorphic facial features, and intellectual developmenta l disorder (CHDFIDD) [MIM:617360]
39734 Q14004 (CDK13) V M 1062 rs17496712 Benign
39735 Q14004 (CDK13) V M 1170 rs3204309 Benign
39736 Q14005 (IL16) P S 434 rs4072111 Benign
39737 Q14005 (IL16) R Q 889 rs17875512 Benign
39738 Q14005 (IL16) S L 906 rs17875513 Benign
39739 Q14005 (IL16) S T 1027 rs34101586 Benign
39740 Q14005 (IL16) N K 1147 rs11556218 Benign
39741 Q14005 (IL16) H R 1176 rs34159341 Benign
39742 Q14008 (CKAP5) Y C 785 rs11038988 Benign
39743 Q14012 (CAMK1) E K 361 rs56033923 Benign
39744 Q14028 (CNGB1) R H 100 rs13336595 Benign
39745 Q14028 (CNGB1) L I 479 rs2303783 Benign
39746 Q14028 (CNGB1) V A 535 rs12927214 Benign
39747 Q14028 (CNGB1) N K 731 rs376270 Benign
39748 Q14028 (CNGB1) L I 745 rs10459809 Benign
39749 Q14028 (CNGB1) K R 911 rs2303785 Benign
39750 Q14028 (CNGB1) A S 961 rs16942445 Benign
39751 Q14028 (CNGB1) G V 993 rs121918532 Disease: Retinitis pigmentosa 45 (RP45) [MIM:613767]
39752 Q14031 (COL4A6) S A 455 rs1042065 Benign
39753 Q14031 (COL4A6) S P 455 rs1042065 Benign
39754 Q14031 (COL4A6) G S 591 rs779748859 Disease: Deafness, X-linked, 6 (DFNX6) [MIM:300914]
39755 Q14031 (COL4A6) N K 1110 rs1042067 Benign
39756 Q14031 (COL4A6) P S 1126 rs35179844 Benign
39757 Q14031 (COL4A6) I V 1162 rs34466065 Benign
39758 Q14031 (COL4A6) L P 1362 rs35363062 Benign
39759 Q14032 (BAAT) R Q 20 rs1572983 Benign
39760 Q14032 (BAAT) M V 76 rs28937579 Disease: Familial hypercholane mia (FHCA) [MIM:607748]
39761 Q14050 (COL9A3) G D 35 rs1390736361 Disease: Multiple epiphyseal dysplasia 3 (EDM3) [MIM:600969]
39762 Q14050 (COL9A3) P S 94 rs35908728 Benign
39763 Q14050 (COL9A3) R Q 103 rs142639450 Benign
39764 Q14050 (COL9A3) R W 103 rs61734651 Benign
39765 Q14050 (COL9A3) P L 296 rs45628843 Benign
39766 Q14050 (COL9A3) R Q 402 rs373519549 Benign
39767 Q14050 (COL9A3) A E 435 rs751557 Benign
39768 Q14055 (COL9A2) T M 246 rs2228565 Benign
39769 Q14055 (COL9A2) Q R 326 rs2228564 Benign
39770 Q14055 (COL9A2) Q W 326 rs137853213 Disease: Intervertebr al disc disease (IDD) [MIM:603932]
39771 Q14055 (COL9A2) L V 335 rs2228567 Benign
39772 Q14055 (COL9A2) V I 581 rs3737821 Benign
39773 Q14088 (RAB33A) M T 102 - Benign
39774 Q14093 (CYLC2) D Y 146 rs13293961 Benign
39775 Q14093 (CYLC2) G D 184 rs10990424 Benign
39776 Q14093 (CYLC2) K E 190 rs2298050 Benign
39777 Q14093 (CYLC2) G D 208 rs2298051 Benign
39778 Q14093 (CYLC2) A E 319 rs3763636 Benign
39779 Q14094 (CCNI) V I 207 rs4252903 Benign
39780 Q14108 (SCARB2) H N 363 rs758857853 Disease: Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]
39781 Q14108 (SCARB2) E G 471 rs755903502 Benign
39782 Q14112 (NID2) P Q 22 rs3920038 Benign
39783 Q14112 (NID2) D G 313 rs17124969 Benign
39784 Q14112 (NID2) P H 354 rs35657569 Benign
39785 Q14112 (NID2) G D 453 rs2101919 Benign
39786 Q14112 (NID2) P S 529 rs17831525 Benign
39787 Q14112 (NID2) S P 656 rs3742536 Benign
39788 Q14112 (NID2) V M 726 rs35147930 Benign
39789 Q14112 (NID2) G V 760 rs2273430 Benign
39790 Q14112 (NID2) R Q 775 rs10134590 Benign
39791 Q14112 (NID2) R Q 830 rs7144523 Benign
39792 Q14112 (NID2) R Q 866 rs28507587 Benign
39793 Q14114 (LRP8) Q R 25 rs4926972 Benign
39794 Q14114 (LRP8) D E 46 rs3820198 Benign
39795 Q14114 (LRP8) V M 453 rs5180 Benign
39796 Q14114 (LRP8) W C 466 rs5181 Benign
39797 Q14114 (LRP8) Q R 607 rs5172 Benign
39798 Q14114 (LRP8) I L 611 rs5170 Benign
39799 Q14114 (LRP8) S T 653 rs5171 Benign
39800 Q14114 (LRP8) R Q 736 rs5172 Benign
39801 Q14114 (LRP8) R Q 952 rs5174 Benign
39802 Q14117 (DPYS) T R 68 - Disease: Dihydropyrim idinase deficiency (DPYSD) [MIM:222748]
39803 Q14117 (DPYS) Q R 334 rs121964923 Disease: Dihydropyrim idinase deficiency (DPYSD) [MIM:222748]
39804 Q14117 (DPYS) W R 360 rs121964924 Disease: Dihydropyrim idinase deficiency (DPYSD) [MIM:222748]
39805 Q14117 (DPYS) G R 435 rs267606773 Disease: Dihydropyrim idinase deficiency (DPYSD) [MIM:222748]
39806 Q14117 (DPYS) R T 490 - Disease: Dihydropyrim idinase deficiency (DPYSD) [MIM:222748]
39807 Q14118 (DAG1) S W 14 rs2131107 Benign
39808 Q14118 (DAG1) V I 74 rs189360006 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C9 (MDDGC9) [MIM:613818]
39809 Q14118 (DAG1) D N 111 rs117209107 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C9 (MDDGC9) [MIM:613818]
39810 Q14118 (DAG1) T M 192 rs193922955 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C9 (MDDGC9) [MIM:613818]
39811 Q14118 (DAG1) C F 669 rs797045023 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A9 (MDDGA9) [MIM:616538]
39812 Q14123 (PDE1C) A S 260 rs775633137 Disease: Deafness, autosomal dominant, 74 (DFNA74) [MIM:618140]
39813 Q14126 (DSG2) R Q 46 rs121913008 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
39814 Q14126 (DSG2) R H 49 rs121913006 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
39815 Q14126 (DSG2) V M 56 rs121913013 Benign
39816 Q14126 (DSG2) Y C 89 rs2230232 Benign
39817 Q14126 (DSG2) V G 158 rs191143292 Benign
39818 Q14126 (DSG2) I V 293 rs2230234 Benign
39819 Q14126 (DSG2) T A 335 rs191564916 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
39820 Q14126 (DSG2) C Y 507 rs121913009 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
39821 Q14126 (DSG2) V I 515 rs2230235 Benign
39822 Q14126 (DSG2) E K 713 rs79241126 Benign
39823 Q14126 (DSG2) R K 773 rs2278792 Benign
39824 Q14126 (DSG2) G C 812 rs121913010 Disease: Arrhythmogen ic right ventricular dysplasia, familial, 10 (ARVD10) [MIM:610193]
39825 Q14126 (DSG2) M L 863 rs16962093 Benign
39826 Q14126 (DSG2) T I 903 rs34065672 Benign
39827 Q14126 (DSG2) V G 920 rs142841727 Benign
39828 Q14129 (DGCR6) A V 117 rs16983281 Benign
39829 Q14135 (VGLL4) M I 32 rs2276749 Benign
39830 Q14142 (TRIM14) V M 219 rs2296079 Benign
39831 Q14145 (KEAP1) D N 349 rs1048289 Benign
39832 Q14145 (KEAP1) G S 350 rs777308626 Benign
39833 Q14146 (URB2) V G 778 rs3811473 Benign
39834 Q14146 (URB2) V M 1400 rs12142450 Benign
39835 Q14147 (DHX34) R W 17 rs12984558 Benign
39836 Q14147 (DHX34) G D 117 rs8113564 Benign
39837 Q14152 (EIF3A) E K 386 rs967185 Benign
39838 Q14152 (EIF3A) K N 694 rs431898 Benign
39839 Q14152 (EIF3A) D E 993 rs532138 Benign
39840 Q14154 (DELE1) G D 60 rs34438707 Benign
39841 Q14154 (DELE1) A T 95 rs17850821 Benign
39842 Q14154 (DELE1) F L 128 rs10036567 Benign
39843 Q14154 (DELE1) A T 247 rs351260 Benign
39844 Q14154 (DELE1) R C 468 rs10056676 Benign
39845 Q14156 (EFR3A) P R 14 - Benign
39846 Q14156 (EFR3A) K E 50 - Benign
39847 Q14156 (EFR3A) G C 55 rs749463078 Benign
39848 Q14156 (EFR3A) R C 70 rs1212454955 Benign
39849 Q14156 (EFR3A) F L 100 - Benign
39850 Q14156 (EFR3A) L P 118 - Benign
39851 Q14156 (EFR3A) F L 123 rs1323253445 Benign
39852 Q14156 (EFR3A) M V 194 rs780864616 Benign
39853 Q14156 (EFR3A) G A 243 - Benign
39854 Q14156 (EFR3A) D G 268 - Benign
39855 Q14156 (EFR3A) E D 320 - Benign
39856 Q14156 (EFR3A) A S 321 rs774959333 Benign
39857 Q14156 (EFR3A) V L 337 - Benign
39858 Q14156 (EFR3A) F S 338 - Benign
39859 Q14156 (EFR3A) N D 354 rs754610866 Benign
39860 Q14156 (EFR3A) G R 358 rs2270877 Benign
39861 Q14156 (EFR3A) N D 365 rs1051221 Benign
39862 Q14156 (EFR3A) T M 451 rs770980074 Benign
39863 Q14156 (EFR3A) D G 504 - Benign
39864 Q14156 (EFR3A) L P 508 - Benign
39865 Q14156 (EFR3A) I V 510 - Benign
39866 Q14156 (EFR3A) Q R 528 - Benign
39867 Q14156 (EFR3A) R W 532 rs779475356 Benign
39868 Q14156 (EFR3A) I T 534 rs374094815 Benign
39869 Q14156 (EFR3A) D V 570 - Benign
39870 Q14156 (EFR3A) M V 646 rs759848268 Benign
39871 Q14156 (EFR3A) T A 785 rs1467962026 Benign
39872 Q14157 (UBAP2L) Q H 482 rs17849745 Benign
39873 Q14160 (SCRIB) P L 422 rs6558394 Benign
39874 Q14160 (SCRIB) P S 454 rs1302482009 Disease: Neural tube defects (NTD) [MIM:182940]
39875 Q14160 (SCRIB) R Q 1535 rs782428100 Disease: Neural tube defects (NTD) [MIM:182940]
39876 Q14161 (GIT2) N S 338 rs9804905 Benign
39877 Q14161 (GIT2) N S 387 rs925368 Benign
39878 Q14161 (GIT2) A V 552 rs11068997 Benign
39879 Q14162 (SCARF1) A V 425 rs2272011 Benign
39880 Q14162 (SCARF1) R K 618 rs35455643 Benign
39881 Q14162 (SCARF1) E D 639 rs3744644 Benign
39882 Q14162 (SCARF1) R W 662 rs8072430 Benign
39883 Q14162 (SCARF1) G S 667 rs4790250 Benign
39884 Q14162 (SCARF1) G V 748 rs3760460 Benign
39885 Q14164 (IKBKE) E K 128 rs41296028 Benign
39886 Q14164 (IKBKE) A T 371 rs17021877 Benign
39887 Q14164 (IKBKE) T M 483 rs52817862 Benign
39888 Q14164 (IKBKE) E D 515 rs41299015 Benign
39889 Q14164 (IKBKE) I M 543 rs41299037 Benign
39890 Q14164 (IKBKE) A V 602 rs12059562 Benign
39891 Q14164 (IKBKE) G E 660 rs55822317 Benign
39892 Q14164 (IKBKE) P L 713 rs3748022 Benign
39893 Q14166 (TTLL12) R W 84 rs138951 Benign
39894 Q14166 (TTLL12) N S 95 rs13058467 Benign
39895 Q14166 (TTLL12) V M 297 rs11704935 Benign
39896 Q14166 (TTLL12) V M 464 rs34074034 Benign
39897 Q14181 (POLA2) G R 583 rs487989 Benign
39898 Q14181 (POLA2) S N 588 rs7123885 Benign
39899 Q14183 (DOC2A) G S 48 rs1140239 Benign
39900 Q14185 (DOCK1) A T 1793 rs869801 Benign
39901 Q14186 (TFDP1) D N 401 rs4150823 Benign
39902 Q14188 (TFDP2) I T 64 rs748095099 Benign
39903 Q14188 (TFDP2) P S 81 rs11569200 Benign
39904 Q14190 (SIM2) L M 483 rs2073601 Benign
39905 Q14191 (WRN) K R 32 rs34477820 Benign
39906 Q14191 (WRN) V I 114 rs2230009 Benign
39907 Q14191 (WRN) K N 125 rs387906337 Disease: Werner syndrome (WRN) [MIM:277700]
39908 Q14191 (WRN) K E 135 rs267607008 Disease: Werner syndrome (WRN) [MIM:277700]
39909 Q14191 (WRN) T P 172 rs367991517 Benign
39910 Q14191 (WRN) N K 240 rs148229804 Benign
39911 Q14191 (WRN) T A 324 rs1800390 Benign
39912 Q14191 (WRN) Q R 329 rs4987237 Benign
39913 Q14191 (WRN) E K 343 rs11574222 Benign
39914 Q14191 (WRN) L F 383 rs4987238 Benign
39915 Q14191 (WRN) L W 383 - Benign
39916 Q14191 (WRN) M I 387 rs1800391 Benign
39917 Q14191 (WRN) N S 533 rs11574240 Benign
39918 Q14191 (WRN) S C 612 rs11574250 Benign
39919 Q14191 (WRN) S F 708 rs11574289 Benign
39920 Q14191 (WRN) R W 711 rs34560788 Benign
39921 Q14191 (WRN) Q L 724 - Benign
39922 Q14191 (WRN) R C 834 rs3087425 Benign
39923 Q14191 (WRN) I S 912 rs11574323 Benign
39924 Q14191 (WRN) L F 1074 rs1801195 Benign
39925 Q14191 (WRN) S L 1079 rs3087414 Benign
39926 Q14191 (WRN) S A 1133 rs11574358 Benign
39927 Q14191 (WRN) S L 1141 rs139323683 Benign
39928 Q14191 (WRN) K E 1269 rs746648510 Benign
39929 Q14191 (WRN) V I 1339 rs11574395 Benign
39930 Q14191 (WRN) C R 1367 rs1346044 Benign
39931 Q14192 (FHL2) K M 167 - Benign
39932 Q14194 (CRMP1) V I 461 rs34611001 Benign
39933 Q14195 (DPYSL3) A S 442 rs2304044 Benign
39934 Q14197 (MRPL58) R P 8 rs3744206 Benign
39935 Q14197 (MRPL58) L F 77 rs10512599 Benign
39936 Q14197 (MRPL58) T M 122 rs34496172 Benign
39937 Q14203 (DCTN1) F L 52 rs886039227 Disease: Perry syndrome (PERRYS) [MIM:168605]
39938 Q14203 (DCTN1) G S 59 rs121909342 Disease: Neuronopathy , distal hereditary motor, 7B (HMN7B) [MIM:607641]
39939 Q14203 (DCTN1) G A 71 rs67586389 Disease: Perry syndrome (PERRYS) [MIM:168605]
39940 Q14203 (DCTN1) G E 71 rs67586389 Disease: Perry syndrome (PERRYS) [MIM:168605]
39941 Q14203 (DCTN1) G R 71 rs72466485 Disease: Perry syndrome (PERRYS) [MIM:168605]
39942 Q14203 (DCTN1) T P 72 rs72466486 Disease: Perry syndrome (PERRYS) [MIM:168605]
39943 Q14203 (DCTN1) Q P 74 rs72466487 Disease: Perry syndrome (PERRYS) [MIM:168605]
39944 Q14203 (DCTN1) Y C 78 rs886039229 Disease: Perry syndrome (PERRYS) [MIM:168605]
39945 Q14203 (DCTN1) A P 163 - Benign
39946 Q14203 (DCTN1) I V 196 rs55862001 Benign
39947 Q14203 (DCTN1) L M 287 rs13420401 Benign
39948 Q14203 (DCTN1) R Q 495 rs17721059 Benign
39949 Q14203 (DCTN1) M T 571 rs121909343 Disease: Amyotrophic lateral sclerosis (ALS) [MIM:105400]
39950 Q14203 (DCTN1) R W 785 rs121909344 Disease: Amyotrophic lateral sclerosis (ALS) [MIM:105400]
39951 Q14203 (DCTN1) R K 1101 rs121909345 Disease: Amyotrophic lateral sclerosis (ALS) [MIM:105400]
39952 Q14204 (DYNC1H1) K I 129 - Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39953 Q14204 (DYNC1H1) E A 142 - Benign
39954 Q14204 (DYNC1H1) R L 264 rs713993043 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39955 Q14204 (DYNC1H1) H R 306 rs387906738 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39956 Q14204 (DYNC1H1) I L 584 rs387906741 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39957 Q14204 (DYNC1H1) R C 598 rs587780564 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39958 Q14204 (DYNC1H1) K E 671 rs387906742 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39959 Q14204 (DYNC1H1) P L 776 rs1057518083 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39960 Q14204 (DYNC1H1) Y C 970 rs387906743 Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39961 Q14204 (DYNC1H1) G E 1132 - Disease: Spinal muscular atrophy, lower extremity- predominant 1, autosomal dominant (SMALED1) [MIM:158600]
39962 Q14204 (DYNC1H1) Q R 1194 - Disease: Charcot- Marie-Tooth disease 2O (CMT2O) [MIM:614228]
39963 Q14204 (DYNC1H1) V L 1250 rs369914512 Benign
39964 Q14204 (DYNC1H1) E K 1518 rs387906740 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39965 Q14204 (DYNC1H1) R Q 1567 rs797044901 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39966 Q14204 (DYNC1H1) R C 1962 rs879253881 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39967 Q14204 (DYNC1H1) V M 2247 rs1064796963 Benign
39968 Q14204 (DYNC1H1) E K 3048 rs1555410941 Disease: Charcot- Marie-Tooth disease 2O (CMT2O) [MIM:614228]
39969 Q14204 (DYNC1H1) K T 3241 - Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39970 Q14204 (DYNC1H1) K N 3336 rs397509410 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39971 Q14204 (DYNC1H1) R Q 3344 rs397509412 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39972 Q14204 (DYNC1H1) R Q 3384 rs397509411 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39973 Q14204 (DYNC1H1) H P 3822 rs387906739 Disease: Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
39974 Q14204 (DYNC1H1) D N 3902 rs17512818 Benign
39975 Q14204 (DYNC1H1) H Q 4029 rs10129889 Benign
39976 Q14204 (DYNC1H1) R C 4143 rs1316357429 Benign
39977 Q14204 (DYNC1H1) A S 4285 rs749486351 Benign
39978 Q14204 (DYNC1H1) A T 4421 rs376492799 Benign
39979 Q14204 (DYNC1H1) I S 4507 - Benign
39980 Q14204 (DYNC1H1) S G 4603 - Benign
39981 Q14207 (NPAT) I L 295 rs1131748 Benign
39982 Q14207 (NPAT) L M 399 rs1051521 Benign
39983 Q14207 (NPAT) V M 447 rs35504388 Benign
39984 Q14207 (NPAT) I L 483 rs968207 Benign
39985 Q14207 (NPAT) L F 540 rs4144901 Benign
39986 Q14207 (NPAT) V I 575 rs2070661 Benign
39987 Q14207 (NPAT) V A 608 rs35095430 Benign
39988 Q14207 (NPAT) V I 621 rs1051522 Benign
39989 Q14207 (NPAT) Q E 967 rs1131750 Benign
39990 Q14207 (NPAT) L V 973 rs1131751 Benign
39991 Q14207 (NPAT) V A 987 rs1051524 Benign
39992 Q14207 (NPAT) N K 999 rs34052882 Benign
39993 Q14207 (NPAT) Q R 1191 rs1051525 Benign
39994 Q14209 (E2F2) G R 205 rs2229297 Benign
39995 Q14209 (E2F2) Q H 226 rs2075995 Benign
39996 Q14210 (LY6D) A T 10 rs2572925 Benign
39997 Q14213 (EBI3) A V 174 rs1803524 Benign
39998 Q14213 (EBI3) V I 201 rs4740 Benign
39999 Q14232 (EIF2B1) V F 183 rs863225048 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
40000 Q14232 (EIF2B1) N Y 208 rs113994007 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]

Reference

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

    • [an error occurred while processing this directive]

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