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I-TASSER QUARK LOMETS COACH COFACTOR MetaGO MUSTER CEthreader SEGMER FG-MD ModRefiner REMO DEMO SPRING COTH BSpred ANGLOR EDock BSP-SLIM SAXSTER FUpred ThreaDom ThreaDomEx EvoDesign GPCR-I-TASSER MAGELLAN BindProf BindProfX SSIPe ResQ IonCom STRUM DAMpred

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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]
60001 Q9BWV7 (TTLL2) P S 63 rs34350976 Benign
60002 Q9BWV7 (TTLL2) T A 127 rs11540664 Benign
60003 Q9BWV7 (TTLL2) L P 202 rs6936639 Benign
60004 Q9BWV7 (TTLL2) I V 356 rs34286114 Benign
60005 Q9BWV7 (TTLL2) R G 425 rs909545 Benign
60006 Q9BWV7 (TTLL2) K T 441 rs41266331 Benign
60007 Q9BWV7 (TTLL2) G S 445 rs9457304 Benign
60008 Q9BWV7 (TTLL2) Q H 529 rs12528714 Benign
60009 Q9BWV7 (TTLL2) V I 559 rs34931196 Benign
60010 Q9BWW7 (SCRT1) S A 133 rs7013127 Benign
60011 Q9BWW8 (APOL6) N K 173 rs5999923 Benign
60012 Q9BWW9 (APOL5) E K 81 rs5999985 Benign
60013 Q9BWW9 (APOL5) T M 272 rs2076671 Benign
60014 Q9BWW9 (APOL5) T M 323 rs2076672 Benign
60015 Q9BWW9 (APOL5) S C 406 rs2076673 Benign
60016 Q9BWX5 (GATA5) Q R 3 rs113068438 Benign
60017 Q9BWX5 (GATA5) Y D 16 rs1555897088 Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60018 Q9BWX5 (GATA5) S W 19 rs200383755 Benign
60019 Q9BWX5 (GATA5) T P 67 rs6142775 Benign
60020 Q9BWX5 (GATA5) Y F 138 - Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60021 Q9BWX5 (GATA5) G S 166 rs141950357 Benign
60022 Q9BWX5 (GATA5) R G 187 - Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60023 Q9BWX5 (GATA5) L V 199 rs1555896779 Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60024 Q9BWX5 (GATA5) W G 200 rs1555896778 Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60025 Q9BWX5 (GATA5) H R 207 - Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60026 Q9BWX5 (GATA5) C G 210 rs997414695 Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60027 Q9BWX5 (GATA5) G D 240 - Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60028 Q9BWX5 (GATA5) T P 252 - Disease: Congenital heart defects, multiple types, 5 (CHTD5) [MIM:617912]
60029 Q9BX26 (SYCP2) T K 353 rs13039338 Benign
60030 Q9BX26 (SYCP2) P L 523 rs1359836 Benign
60031 Q9BX26 (SYCP2) T I 751 rs6071006 Benign
60032 Q9BX26 (SYCP2) V A 1155 rs6128714 Benign
60033 Q9BX59 (TAPBPL) A V 42 rs2041385 Benign
60034 Q9BX59 (TAPBPL) M V 146 rs2532501 Benign
60035 Q9BX59 (TAPBPL) G R 151 rs7295376 Benign
60036 Q9BX59 (TAPBPL) T A 165 rs2532500 Benign
60037 Q9BX59 (TAPBPL) A V 169 rs2041387 Benign
60038 Q9BX59 (TAPBPL) T M 334 rs1045546 Benign
60039 Q9BX63 (BRIP1) P A 47 rs28903098 Disease: Breast cancer (BC) [MIM:114480]
60040 Q9BX63 (BRIP1) R C 173 rs4988345 Benign
60041 Q9BX63 (BRIP1) V I 193 rs4988346 Benign
60042 Q9BX63 (BRIP1) L P 195 rs4988347 Benign
60043 Q9BX63 (BRIP1) Q H 255 - Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054]
60044 Q9BX63 (BRIP1) R W 264 rs28997569 Benign
60045 Q9BX63 (BRIP1) M I 299 rs137852985 Disease: Breast cancer (BC) [MIM:114480]
60046 Q9BX63 (BRIP1) A P 349 rs149364097 Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054]
60047 Q9BX63 (BRIP1) R W 419 rs150624408 Benign
60048 Q9BX63 (BRIP1) F V 531 rs4988350 Benign
60049 Q9BX63 (BRIP1) Q L 540 rs4988349 Benign
60050 Q9BX63 (BRIP1) I M 633 rs28997572 Benign
60051 Q9BX63 (BRIP1) W C 647 rs786202760 Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054]
60052 Q9BX63 (BRIP1) R C 707 rs764803896 Disease: Fanconi anemia complementat ion group J (FANCJ) [MIM:609054]
60053 Q9BX63 (BRIP1) C Y 832 rs4988355 Benign
60054 Q9BX63 (BRIP1) S P 919 rs4986764 Benign
60055 Q9BX63 (BRIP1) V G 935 rs4988356 Benign
60056 Q9BX63 (BRIP1) D E 1148 rs28997573 Benign
60057 Q9BX66 (SORBS1) L P 61 rs943542 Benign
60058 Q9BX66 (SORBS1) R W 74 rs757431022 Benign
60059 Q9BX66 (SORBS1) G V 175 rs7081076 Benign
60060 Q9BX66 (SORBS1) T A 237 rs2281939 Benign
60061 Q9BX66 (SORBS1) Y C 485 rs35808802 Benign
60062 Q9BX67 (JAM3) E K 116 rs397515439 Disease: Hemorrhagic destruction of the brain with subependymal calcificatio n and cataracts (HDBSCC) [MIM:613730]
60063 Q9BX67 (JAM3) C Y 219 rs397515438 Disease: Hemorrhagic destruction of the brain with subependymal calcificatio n and cataracts (HDBSCC) [MIM:613730]
60064 Q9BX69 (CARD6) S L 86 rs10512747 Benign
60065 Q9BX69 (CARD6) R K 93 rs7715491 Benign
60066 Q9BX69 (CARD6) M K 395 rs3812030 Benign
60067 Q9BX69 (CARD6) D V 426 rs3812031 Benign
60068 Q9BX69 (CARD6) A D 575 rs36085996 Benign
60069 Q9BX69 (CARD6) I V 576 rs323562 Benign
60070 Q9BX79 (STRA6) P L 90 rs118203961 Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186]
60071 Q9BX79 (STRA6) G E 217 rs909629751 Benign
60072 Q9BX79 (STRA6) P L 293 rs118203958 Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186]
60073 Q9BX79 (STRA6) G K 304 rs151341424 Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186]
60074 Q9BX79 (STRA6) T P 321 rs118203962 Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186]
60075 Q9BX79 (STRA6) G S 339 rs17852249 Benign
60076 Q9BX79 (STRA6) Q R 438 rs869025269 Benign
60077 Q9BX79 (STRA6) L F 517 rs11545567 Benign
60078 Q9BX79 (STRA6) M I 527 rs736118 Benign
60079 Q9BX79 (STRA6) R P 638 rs144691445 Benign
60080 Q9BX79 (STRA6) T M 644 rs118203960 Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186]
60081 Q9BX79 (STRA6) R C 655 rs118203959 Disease: Microphthalm ia, syndromic, 9 (MCOPS9) [MIM:601186]
60082 Q9BX82 (ZNF471) M I 192 rs11667052 Benign
60083 Q9BX82 (ZNF471) Q R 309 rs45487092 Benign
60084 Q9BX82 (ZNF471) G D 406 rs3752176 Benign
60085 Q9BX82 (ZNF471) S C 556 rs16987303 Benign
60086 Q9BX84 (TRPM6) S L 141 rs121912625 Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014]
60087 Q9BX84 (TRPM6) M I 338 rs56155062 Benign
60088 Q9BX84 (TRPM6) L P 708 - Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014]
60089 Q9BX84 (TRPM6) E G 872 - Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014]
60090 Q9BX84 (TRPM6) F L 948 rs13290391 Benign
60091 Q9BX84 (TRPM6) Y C 1053 - Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014]
60092 Q9BX84 (TRPM6) N D 1071 rs2274922 Benign
60093 Q9BX84 (TRPM6) L P 1143 - Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014]
60094 Q9BX84 (TRPM6) H R 1243 rs55694430 Benign
60095 Q9BX84 (TRPM6) Q R 1274 rs34608911 Benign
60096 Q9BX84 (TRPM6) V I 1393 rs3750425 Benign
60097 Q9BX84 (TRPM6) K E 1584 rs2274924 Benign
60098 Q9BX84 (TRPM6) Q R 1663 rs55679040 Benign
60099 Q9BX84 (TRPM6) L S 1673 rs56254742 Benign
60100 Q9BX84 (TRPM6) T I 1724 rs56290308 Benign
60101 Q9BX84 (TRPM6) S N 1754 - Disease: Hypomagnesem ia 1 (HOMG1) [MIM:602014]
60102 Q9BX97 (PLVAP) L P 34 - Disease: Diarrhea 10, protein- losing enteropathy type (DIAR10) [MIM:618183]
60103 Q9BXA7 (TSSK1B) A T 50 rs747955728 Benign
60104 Q9BXA7 (TSSK1B) H Y 83 rs55930004 Benign
60105 Q9BXA7 (TSSK1B) V L 233 rs55940513 Benign
60106 Q9BXA7 (TSSK1B) R C 237 rs55738530 Benign
60107 Q9BXA7 (TSSK1B) G W 288 rs34696815 Benign
60108 Q9BXA7 (TSSK1B) G E 293 rs11953478 Benign
60109 Q9BXA9 (SALL3) T A 533 rs7240860 Benign
60110 Q9BXA9 (SALL3) L V 593 rs2447437 Benign
60111 Q9BXB1 (LGR4) S G 215 rs2448010 Benign
60112 Q9BXB1 (LGR4) N S 233 rs2472617 Benign
60113 Q9BXB1 (LGR4) A V 480 rs12284579 Benign
60114 Q9BXB1 (LGR4) R G 684 rs7125959 Benign
60115 Q9BXB1 (LGR4) T M 709 rs34717439 Benign
60116 Q9BXB1 (LGR4) D G 844 rs34804482 Benign
60117 Q9BXB5 (OSBPL10) N D 254 rs2290532 Benign
60118 Q9BXB7 (SPATA16) N S 50 rs16846624 Benign
60119 Q9BXB7 (SPATA16) E K 78 rs1515441 Benign
60120 Q9BXB7 (SPATA16) E G 90 rs11558933 Benign
60121 Q9BXB7 (SPATA16) M V 133 rs1515442 Benign
60122 Q9BXB7 (SPATA16) G E 147 rs16846616 Benign
60123 Q9BXB7 (SPATA16) R Q 283 rs137853118 Disease: Spermatogeni c failure 6 (SPGF6) [MIM:102530]
60124 Q9BXB7 (SPATA16) M V 286 - Benign
60125 Q9BXB7 (SPATA16) V M 423 rs373336427 Benign
60126 Q9BXB7 (SPATA16) A V 509 rs115095786 Benign
60127 Q9BXB7 (SPATA16) M T 526 rs62622782 Benign
60128 Q9BXB7 (SPATA16) Q R 564 rs952207260 Benign
60129 Q9BXC0 (HCAR1) H Q 43 rs35292336 Benign
60130 Q9BXC0 (HCAR1) D E 253 - Benign
60131 Q9BXC0 (HCAR1) D H 253 rs36124671 Benign
60132 Q9BXC1 (GPR174) S P 162 rs3827440 Benign
60133 Q9BXC9 (BBS2) R P 23 - Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60134 Q9BXC9 (BBS2) A D 33 rs797045155 Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562]
60135 Q9BXC9 (BBS2) N S 70 rs4784677 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60136 Q9BXC9 (BBS2) V G 75 rs121908174 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60137 Q9BXC9 (BBS2) G C 81 rs750506474 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60138 Q9BXC9 (BBS2) D A 104 rs121908179 Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562]
60139 Q9BXC9 (BBS2) A V 122 rs17856449 Benign
60140 Q9BXC9 (BBS2) I V 123 rs11373 Benign
60141 Q9BXC9 (BBS2) L R 125 - Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60142 Q9BXC9 (BBS2) P R 134 rs376306240 Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562]
60143 Q9BXC9 (BBS2) A P 136 - Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60144 Q9BXC9 (BBS2) G V 139 rs121908181 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60145 Q9BXC9 (BBS2) D E 174 rs767373822 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60146 Q9BXC9 (BBS2) C W 307 - Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60147 Q9BXC9 (BBS2) R Q 315 rs544773389 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60148 Q9BXC9 (BBS2) R W 315 rs121908178 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60149 Q9BXC9 (BBS2) Y C 317 - Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60150 Q9BXC9 (BBS2) L W 349 rs752280639 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60151 Q9BXC9 (BBS2) A V 504 rs16957538 Benign
60152 Q9BXC9 (BBS2) T I 558 rs370581600 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60153 Q9BXC9 (BBS2) E K 629 rs746505864 Benign
60154 Q9BXC9 (BBS2) R P 632 rs138043021 Disease: Retinitis pigmentosa 74 (RP74) [MIM:616562]
60155 Q9BXC9 (BBS2) R H 643 rs532361142 Disease: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]
60156 Q9BXF3 (CECR2) R H 293 rs5747211 Benign
60157 Q9BXF3 (CECR2) P L 674 rs1296794 Benign
60158 Q9BXF9 (TEKT3) R H 3 rs7226363 Benign
60159 Q9BXF9 (TEKT3) G A 282 rs230898 Benign
60160 Q9BXF9 (TEKT3) V A 296 rs6502446 Benign
60161 Q9BXF9 (TEKT3) E D 410 rs35855709 Benign
60162 Q9BXG8 (SPZ1) V L 17 rs1862136 Benign
60163 Q9BXG8 (SPZ1) E K 302 rs6867419 Benign
60164 Q9BXI2 (SLC25A2) G C 159 rs10075302 Benign
60165 Q9BXI2 (SLC25A2) V G 181 rs3749779 Benign
60166 Q9BXI2 (SLC25A2) V I 226 rs3749780 Benign
60167 Q9BXI6 (TBC1D10A) R H 411 rs4823086 Benign
60168 Q9BXI9 (C1QTNF6) G V 21 rs229527 Benign
60169 Q9BXI9 (C1QTNF6) P R 42 rs229526 Benign
60170 Q9BXI9 (C1QTNF6) G D 55 rs7290488 Benign
60171 Q9BXI9 (C1QTNF6) P L 138 rs17812699 Benign
60172 Q9BXI9 (C1QTNF6) R H 226 rs17812681 Benign
60173 Q9BXJ0 (C1QTNF5) Q R 44 rs11538245 Benign
60174 Q9BXJ0 (C1QTNF5) S R 163 rs111033578 Disease: Late-onset retinal degeneration (LORD) [MIM:605670]
60175 Q9BXJ1 (C1QTNF1) R Q 241 rs35035542 Benign
60176 Q9BXJ7 (AMN) T I 41 rs119478058 Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100]
60177 Q9BXJ7 (AMN) M K 69 rs375774640 Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100]
60178 Q9BXJ7 (AMN) C F 234 rs386834176 Disease: Recessive hereditary megaloblasti c anemia 1 (RH-MGA1) [MIM:261100]
60179 Q9BXJ8 (TMEM120A) Q R 86 rs17852664 Benign
60180 Q9BXJ8 (TMEM120A) T A 201 rs17855697 Benign
60181 Q9BXK5 (BCL2L13) I R 46 rs2587070 Benign
60182 Q9BXK5 (BCL2L13) I T 46 rs2587070 Benign
60183 Q9BXK5 (BCL2L13) I V 55 rs16981016 Benign
60184 Q9BXK5 (BCL2L13) P S 360 rs9306198 Benign
60185 Q9BXL6 (CARD14) R C 38 rs281875217 Benign
60186 Q9BXL6 (CARD14) R Q 62 rs115582620 Benign
60187 Q9BXL6 (CARD14) R W 69 rs375624435 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60188 Q9BXL6 (CARD14) G S 117 rs281875215 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60189 Q9BXL6 (CARD14) C S 127 - Disease: Pityriasis rubra pilaris (PRP) [MIM:173200]
60190 Q9BXL6 (CARD14) Q L 136 - Disease: Pityriasis rubra pilaris (PRP) [MIM:173200]
60191 Q9BXL6 (CARD14) E A 138 rs281875214 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60192 Q9BXL6 (CARD14) E G 142 rs281875213 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60193 Q9BXL6 (CARD14) E K 142 rs281875212 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60194 Q9BXL6 (CARD14) L R 150 rs146214639 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60195 Q9BXL6 (CARD14) L P 156 rs387907240 Disease: Pityriasis rubra pilaris (PRP) [MIM:173200]
60196 Q9BXL6 (CARD14) H N 171 rs281875216 Benign
60197 Q9BXL6 (CARD14) D H 176 rs144475004 Benign
60198 Q9BXL6 (CARD14) R H 179 rs199517469 Benign
60199 Q9BXL6 (CARD14) V L 191 rs281875218 Benign
60200 Q9BXL6 (CARD14) E K 197 rs200790561 Disease: Psoriasis 2 (PSORS2) [MIM:602723]
60201 Q9BXL6 (CARD14) S N 200 rs114688446 Benign
60202 Q9BXL6 (CARD14) D G 285 rs281875219 Benign
60203 Q9BXL6 (CARD14) L P 350 rs1412261979 Benign
60204 Q9BXL6 (CARD14) L P 357 - Benign
60205 Q9BXL6 (CARD14) R S 547 rs2066964 Benign
60206 Q9BXL6 (CARD14) V I 585 rs34367357 Benign
60207 Q9BXL6 (CARD14) I N 593 rs281875220 Benign
60208 Q9BXL6 (CARD14) R W 682 rs117918077 Benign
60209 Q9BXL6 (CARD14) G S 714 rs151150961 Benign
60210 Q9BXL6 (CARD14) R W 820 rs11652075 Benign
60211 Q9BXL6 (CARD14) R H 883 rs2289541 Benign
60212 Q9BXL6 (CARD14) R Q 962 rs34850974 Benign
60213 Q9BXL6 (CARD14) D E 973 rs144285237 Benign
60214 Q9BXL7 (CARD11) E D 57 - Disease: Immunodefici ency 11B with atopic dermatitis (IMD11B) [MIM:617638]
60215 Q9BXL7 (CARD11) G S 123 rs387907352 Disease: B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452]
60216 Q9BXL7 (CARD11) E G 134 rs387907351 Disease: B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452]
60217 Q9BXL7 (CARD11) L P 194 - Disease: Immunodefici ency 11B with atopic dermatitis (IMD11B) [MIM:617638]
60218 Q9BXL7 (CARD11) T M 670 rs3735134 Benign
60219 Q9BXL7 (CARD11) S L 694 rs3735133 Benign
60220 Q9BXL7 (CARD11) R W 975 rs1064795307 Disease: Immunodefici ency 11B with atopic dermatitis (IMD11B) [MIM:617638]
60221 Q9BXM0 (PRX) A T 406 rs117336941 Benign
60222 Q9BXM0 (PRX) E Q 495 rs146789340 Benign
60223 Q9BXM0 (PRX) V A 525 rs149715830 Benign
60224 Q9BXM0 (PRX) D N 651 rs3814290 Disease: Charcot- Marie-Tooth disease 4F (CMT4F) [MIM:614895]
60225 Q9BXM0 (PRX) V A 882 rs268671 Benign
60226 Q9BXM0 (PRX) I M 921 rs268673 Benign
60227 Q9BXM0 (PRX) K E 935 - Benign
60228 Q9BXM0 (PRX) P R 1083 rs3745202 Benign
60229 Q9BXM0 (PRX) G R 1132 rs268674 Benign
60230 Q9BXM0 (PRX) E K 1259 rs751742049 Benign
60231 Q9BXM0 (PRX) R C 1411 rs533966999 Benign
60232 Q9BXM7 (PINK1) L F 67 rs763142730 Benign
60233 Q9BXM7 (PINK1) R P 68 rs1385309950 Benign
60234 Q9BXM7 (PINK1) C F 92 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60235 Q9BXM7 (PINK1) R W 98 rs575668171 Benign
60236 Q9BXM7 (PINK1) I S 111 - Benign
60237 Q9BXM7 (PINK1) Q L 115 rs148871409 Benign
60238 Q9BXM7 (PINK1) A V 124 rs1274588239 Benign
60239 Q9BXM7 (PINK1) C G 125 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60240 Q9BXM7 (PINK1) Q P 126 rs775809722 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60241 Q9BXM7 (PINK1) T M 145 rs45604240 Benign
60242 Q9BXM7 (PINK1) L W 148 rs56297806 Benign
60243 Q9BXM7 (PINK1) A P 168 rs768091663 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60244 Q9BXM7 (PINK1) V G 170 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60245 Q9BXM7 (PINK1) K N 186 rs143204084 Benign
60246 Q9BXM7 (PINK1) P S 196 rs35802484 Benign
60247 Q9BXM7 (PINK1) P L 196 rs138302371 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60248 Q9BXM7 (PINK1) P L 209 rs34677717 Benign
60249 Q9BXM7 (PINK1) A D 217 rs74315360 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60250 Q9BXM7 (PINK1) E G 231 rs1303935100 Benign
60251 Q9BXM7 (PINK1) N I 235 - Benign
60252 Q9BXM7 (PINK1) E K 240 rs573931674 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60253 Q9BXM7 (PINK1) T I 257 rs370906995 Benign
60254 Q9BXM7 (PINK1) R G 263 - Benign
60255 Q9BXM7 (PINK1) L V 268 rs372280083 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60256 Q9BXM7 (PINK1) H Q 271 rs28940284 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60257 Q9BXM7 (PINK1) R Q 276 rs548506734 Benign
60258 Q9BXM7 (PINK1) R H 279 rs74315358 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60259 Q9BXM7 (PINK1) A T 280 rs772510148 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60260 Q9BXM7 (PINK1) P L 296 rs779060308 Benign
60261 Q9BXM7 (PINK1) P L 305 rs7349186 Benign
60262 Q9BXM7 (PINK1) G D 309 rs74315355 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60263 Q9BXM7 (PINK1) T M 313 rs74315359 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60264 Q9BXM7 (PINK1) V I 317 rs200949139 Benign
60265 Q9BXM7 (PINK1) M L 318 rs139226733 Benign
60266 Q9BXM7 (PINK1) P L 322 rs768019187 Benign
60267 Q9BXM7 (PINK1) A T 339 rs55831733 Benign
60268 Q9BXM7 (PINK1) A T 340 rs3738136 Benign
60269 Q9BXM7 (PINK1) M I 341 rs35813094 Benign
60270 Q9BXM7 (PINK1) L P 347 rs28940285 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60271 Q9BXM7 (PINK1) D H 362 - Benign
60272 Q9BXM7 (PINK1) L P 369 rs1195888869 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60273 Q9BXM7 (PINK1) C F 377 rs34203620 Benign
60274 Q9BXM7 (PINK1) A T 383 rs45515602 Benign
60275 Q9BXM7 (PINK1) G A 386 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60276 Q9BXM7 (PINK1) C R 388 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60277 Q9BXM7 (PINK1) G V 395 rs1035071310 Benign
60278 Q9BXM7 (PINK1) P L 399 rs119451946 Disease: -
60279 Q9BXM7 (PINK1) R Q 407 rs556540177 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60280 Q9BXM7 (PINK1) G V 409 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60281 Q9BXM7 (PINK1) G S 411 rs45478900 Benign
60282 Q9BXM7 (PINK1) E G 417 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60283 Q9BXM7 (PINK1) P S 425 rs554114655 Benign
60284 Q9BXM7 (PINK1) Y H 431 rs74315361 Benign
60285 Q9BXM7 (PINK1) I T 442 - Benign
60286 Q9BXM7 (PINK1) N S 451 rs747400197 Benign
60287 Q9BXM7 (PINK1) L S 461 - Benign
60288 Q9BXM7 (PINK1) R H 464 rs764328076 Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60289 Q9BXM7 (PINK1) E K 476 rs115477764 Benign
60290 Q9BXM7 (PINK1) S T 477 rs34416410 Benign
60291 Q9BXM7 (PINK1) L P 489 - Disease: Parkinson disease 6 (PARK6) [MIM:605909]
60292 Q9BXM7 (PINK1) R P 501 rs61744200 Benign
60293 Q9BXM7 (PINK1) N T 521 rs1043424 Benign
60294 Q9BXM7 (PINK1) D N 525 rs531477772 Benign
60295 Q9BXM7 (PINK1) A T 537 rs771032673 Benign
60296 Q9BXN2 (CLEC7A) I S 223 rs16910527 Benign
60297 Q9BXN6 (SPANXD) V L 68 rs5953618 Benign
60298 Q9BXP8 (PAPPA2) T S 171 rs36112782 Benign
60299 Q9BXP8 (PAPPA2) P R 1657 rs34602579 Benign
60300 Q9BXR5 (TLR10) A S 163 rs11466649 Benign
60301 Q9BXR5 (TLR10) L P 167 rs11466650 Benign
60302 Q9BXR5 (TLR10) N H 241 rs11096957 Benign
60303 Q9BXR5 (TLR10) V I 298 rs11466651 Benign
60304 Q9BXR5 (TLR10) M T 326 rs11466653 Benign
60305 Q9BXR5 (TLR10) I L 369 rs11096955 Benign
60306 Q9BXR5 (TLR10) G D 381 rs11466655 Benign
60307 Q9BXR5 (TLR10) R G 469 rs11466656 Benign
60308 Q9BXR5 (TLR10) I T 473 rs11466657 Benign
60309 Q9BXR5 (TLR10) R W 525 rs11466658 Benign
60310 Q9BXR5 (TLR10) Y C 736 rs11466660 Benign
60311 Q9BXR5 (TLR10) I F 775 rs4129009 Benign
60312 Q9BXR5 (TLR10) I L 775 rs4129009 Benign
60313 Q9BXR5 (TLR10) I V 775 rs4129009 Benign
60314 Q9BXR5 (TLR10) R L 799 rs4129008 Benign
60315 Q9BXR5 (TLR10) R P 799 rs4129008 Benign
60316 Q9BXR5 (TLR10) R Q 799 rs4129008 Benign
60317 Q9BXR6 (CFHR5) P S 46 rs12097550 Benign
60318 Q9BXR6 (CFHR5) L R 105 rs318240754 Benign
60319 Q9BXR6 (CFHR5) S T 195 rs318240755 Benign
60320 Q9BXR6 (CFHR5) Y N 277 rs318240756 Benign
60321 Q9BXR6 (CFHR5) R H 356 rs35662416 Benign
60322 Q9BXR6 (CFHR5) V L 379 rs111327589 Benign
60323 Q9BXR6 (CFHR5) W C 436 rs201265664 Benign
60324 Q9BXR6 (CFHR5) L I 521 rs35957013 Benign
60325 Q9BXR6 (CFHR5) L R 529 rs16840956 Benign
60326 Q9BXS0 (COL25A1) G R 382 rs780209390 Disease: Fibrosis of extraocular muscles, congenital, 5 (CFEOM5) [MIM:616219]
60327 Q9BXS4 (TMEM59) A V 46 rs41294776 Benign
60328 Q9BXS6 (NUSAP1) T A 33 rs7178634 Benign
60329 Q9BXS6 (NUSAP1) T N 33 rs7178777 Benign
60330 Q9BXS9 (SLC26A6) V M 206 rs13324142 Benign
60331 Q9BXT2 (CACNG6) C S 252 rs12980121 Benign
60332 Q9BXT4 (TDRD1) V L 864 rs7914059 Benign
60333 Q9BXT4 (TDRD1) Y C 1138 rs34112549 Benign
60334 Q9BXT5 (TEX15) C R 104 rs323347 Benign
60335 Q9BXT5 (TEX15) P L 383 rs9297162 Benign
60336 Q9BXT5 (TEX15) I V 1035 rs323346 Benign
60337 Q9BXT5 (TEX15) N S 1311 rs323345 Benign
60338 Q9BXT5 (TEX15) L V 1337 rs323344 Benign
60339 Q9BXT5 (TEX15) K R 1439 rs323343 Benign
60340 Q9BXT5 (TEX15) D N 2138 rs60474250 Benign
60341 Q9BXT6 (MOV10L1) T S 18 rs12628964 Benign
60342 Q9BXT6 (MOV10L1) M L 57 rs9617066 Benign
60343 Q9BXT6 (MOV10L1) R C 182 rs3810971 Benign
60344 Q9BXT6 (MOV10L1) I L 454 rs760749 Benign
60345 Q9BXT6 (MOV10L1) V I 650 rs2340601 Benign
60346 Q9BXT6 (MOV10L1) S G 683 rs3736689 Benign
60347 Q9BXT6 (MOV10L1) Q R 820 rs2272837 Benign
60348 Q9BXT6 (MOV10L1) A E 1179 rs2272843 Benign
60349 Q9BXT8 (RNF17) K N 346 rs1451568 Benign
60350 Q9BXT8 (RNF17) G S 467 rs9581180 Benign
60351 Q9BXT8 (RNF17) S G 501 rs9507413 Benign
60352 Q9BXT8 (RNF17) A P 573 rs10161760 Benign
60353 Q9BXT8 (RNF17) H R 667 rs9511451 Benign
60354 Q9BXT8 (RNF17) N K 1110 rs3783082 Benign
60355 Q9BXT8 (RNF17) E K 1380 rs9507425 Benign
60356 Q9BXU1 (STK31) Q H 71 rs6945306 Benign
60357 Q9BXU1 (STK31) S F 125 rs56268851 Benign
60358 Q9BXU1 (STK31) E K 261 rs10264952 Benign
60359 Q9BXU1 (STK31) K N 268 rs10264967 Benign
60360 Q9BXU1 (STK31) I K 277 rs55950645 Benign
60361 Q9BXU1 (STK31) T P 362 rs35545265 Benign
60362 Q9BXU1 (STK31) R C 385 rs35995607 Benign
60363 Q9BXU1 (STK31) A T 393 rs56244148 Benign
60364 Q9BXU1 (STK31) G E 410 rs4722266 Benign
60365 Q9BXU1 (STK31) A P 489 rs34414354 Benign
60366 Q9BXU1 (STK31) A T 600 rs55796076 Benign
60367 Q9BXU1 (STK31) N K 621 rs10263079 Benign
60368 Q9BXU1 (STK31) S I 623 rs10247878 Benign
60369 Q9BXU1 (STK31) H R 684 rs41273999 Benign
60370 Q9BXU1 (STK31) E K 709 rs56181834 Benign
60371 Q9BXU1 (STK31) T M 1000 rs55794023 Benign
60372 Q9BXU1 (STK31) K T 1009 rs33998018 Benign
60373 Q9BXU1 (STK31) T S 1010 rs56391043 Benign
60374 Q9BXU7 (USP26) L S 165 rs61741870 Benign
60375 Q9BXU7 (USP26) L F 364 rs35397110 Benign
60376 Q9BXU7 (USP26) H Y 475 rs41299088 Benign
60377 Q9BXU7 (USP26) L F 517 rs1323347016 Benign
60378 Q9BXU7 (USP26) M I 579 rs138385391 Benign
60379 Q9BXU8 (FTHL17) Q H 120 rs16989319 Benign
60380 Q9BXU8 (FTHL17) Y H 138 rs17340519 Benign
60381 Q9BXW6 (OSBPL1A) S P 810 rs35693789 Benign
60382 Q9BXW7 (HDHD5) T M 179 rs35665085 Benign
60383 Q9BXW7 (HDHD5) R S 369 rs16982020 Benign
60384 Q9BXW7 (HDHD5) R C 416 rs35327402 Benign
60385 Q9BXW9 (FANCD2) K R 33 rs34691009 Benign
60386 Q9BXW9 (FANCD2) T M 61 rs35110529 Benign
60387 Q9BXW9 (FANCD2) Q H 65 rs36084488 Benign
60388 Q9BXW9 (FANCD2) S G 126 rs764507146 Disease: Fanconi anemia complementat ion group D2 (FANCD2) [MIM:227646]
60389 Q9BXW9 (FANCD2) I M 172 rs35173688 Benign
60390 Q9BXW9 (FANCD2) T A 193 rs34936017 Benign
60391 Q9BXW9 (FANCD2) R W 302 rs121917787 Disease: Fanconi anemia complementat ion group D2 (FANCD2) [MIM:227646]
60392 Q9BXW9 (FANCD2) R Q 328 rs35625434 Benign
60393 Q9BXW9 (FANCD2) L V 446 rs34557223 Benign
60394 Q9BXW9 (FANCD2) L R 456 rs35782247 Benign
60395 Q9BXW9 (FANCD2) Q P 623 rs36070315 Benign
60396 Q9BXW9 (FANCD2) P L 714 rs3864017 Benign
60397 Q9BXW9 (FANCD2) K R 865 rs35546777 Benign
60398 Q9BXW9 (FANCD2) G V 901 rs35495399 Benign
60399 Q9BXW9 (FANCD2) R H 1236 rs121917786 Disease: Fanconi anemia complementat ion group D2 (FANCD2) [MIM:227646]
60400 Q9BXX0 (EMILIN2) A T 215 rs16943977 Benign
60401 Q9BXX0 (EMILIN2) M V 259 rs35267664 Benign
60402 Q9BXX0 (EMILIN2) P S 903 rs56288451 Benign
60403 Q9BXX2 (ANKRD30B) V M 375 rs9748611 Benign
60404 Q9BXX2 (ANKRD30B) F L 477 rs9675365 Benign
60405 Q9BXX3 (ANKRD30A) T A 611 rs16937417 Benign
60406 Q9BXX3 (ANKRD30A) K N 917 rs1209750 Benign
60407 Q9BXX3 (ANKRD30A) R C 985 rs1200875 Benign
60408 Q9BXY0 (MAK16) Q R 277 rs6468171 Benign
60409 Q9BXY5 (CAPS2) L F 125 rs10879901 Benign
60410 Q9BY07 (SLC4A5) S N 251 rs17009792 Benign
60411 Q9BY07 (SLC4A5) H Y 253 rs55651232 Benign
60412 Q9BY10 (SLC46A2) A V 366 rs16917454 Benign
60413 Q9BY11 (PACSIN1) A V 334 rs41312309 Benign
60414 Q9BY12 (SCAPER) P T 1089 rs1607017 Benign
60415 Q9BY12 (SCAPER) A T 1139 rs3743176 Benign
60416 Q9BY12 (SCAPER) A T 1140 rs3743176 Benign
60417 Q9BY14 (TEX101) G V 99 rs35033974 Benign
60418 Q9BY15 (ADGRE3) E Q 127 rs4606855 Benign
60419 Q9BY15 (ADGRE3) A V 236 rs34226397 Benign
60420 Q9BY15 (ADGRE3) R Q 385 rs45508602 Benign
60421 Q9BY19 (MS4A8) V L 95 rs35956659 Benign
60422 Q9BY21 (GPR87) T M 205 rs35521104 Benign
60423 Q9BY27 (DGCR6L) V L 115 rs1056818 Benign
60424 Q9BY27 (DGCR6L) N K 195 rs1056804 Benign
60425 Q9BY32 (ITPA) P T 32 rs1127354 Disease: Inosine triphosphate pyrophosphoh ydrolase deficiency (ITPAD) [MIM:613850]
60426 Q9BY41 (HDAC8) H R 180 rs397515416 Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
60427 Q9BY41 (HDAC8) T M 311 rs397515417 Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
60428 Q9BY41 (HDAC8) G R 320 rs398122909 Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
60429 Q9BY41 (HDAC8) H R 334 rs397515418 Disease: Cornelia de Lange syndrome 5 (CDLS5) [MIM:300882]
60430 Q9BY42 (RTF2) T A 159 rs6024909 Benign
60431 Q9BY42 (RTF2) M V 171 rs1059768 Benign
60432 Q9BY43 (CHMP4A) G R 153 rs2295322 Benign
60433 Q9BY44 (EIF2A) T S 97 rs1132979 Benign
60434 Q9BY44 (EIF2A) E K 582 rs17850813 Benign
60435 Q9BY49 (PECR) E K 149 rs1429148 Benign
60436 Q9BY49 (PECR) F L 297 rs9288513 Benign
60437 Q9BY64 (UGT2B28) L H 365 rs4235127 Benign
60438 Q9BY64 (UGT2B28) I R 447 rs6843900 Benign
60439 Q9BY64 (UGT2B28) H D 458 rs6828191 Benign
60440 Q9BY66 (KDM5D) V L 1186 rs1050807 Benign
60441 Q9BY67 (CADM1) D E 285 rs45525440 Benign
60442 Q9BY76 (ANGPTL4) P L 5 rs761583091 Benign
60443 Q9BY76 (ANGPTL4) E K 40 rs116843064 Benign
60444 Q9BY76 (ANGPTL4) M I 41 rs186754194 Benign
60445 Q9BY76 (ANGPTL4) S R 67 rs538554190 Benign
60446 Q9BY76 (ANGPTL4) R L 72 rs141831018 Benign
60447 Q9BY76 (ANGPTL4) G R 77 rs568624939 Benign
60448 Q9BY76 (ANGPTL4) E K 167 rs140640857 Benign
60449 Q9BY76 (ANGPTL4) P S 174 rs1008363865 Benign
60450 Q9BY76 (ANGPTL4) E Q 190 rs77938377 Benign
60451 Q9BY76 (ANGPTL4) E K 196 rs1192364228 Benign
60452 Q9BY76 (ANGPTL4) R C 230 rs201026877 Benign
60453 Q9BY76 (ANGPTL4) G R 233 - Benign
60454 Q9BY76 (ANGPTL4) F V 237 rs768374046 Benign
60455 Q9BY76 (ANGPTL4) P T 251 rs376328756 Benign
60456 Q9BY76 (ANGPTL4) T M 266 rs1044250 Benign
60457 Q9BY76 (ANGPTL4) R Q 278 rs35061979 Benign
60458 Q9BY76 (ANGPTL4) V M 291 rs150000287 Benign
60459 Q9BY76 (ANGPTL4) L M 293 rs775667046 Benign
60460 Q9BY76 (ANGPTL4) E V 296 - Benign
60461 Q9BY76 (ANGPTL4) P S 307 rs751249880 Benign
60462 Q9BY76 (ANGPTL4) V M 308 rs139998264 Benign
60463 Q9BY76 (ANGPTL4) R C 336 rs140744493 Benign
60464 Q9BY76 (ANGPTL4) D E 338 rs780121474 Benign
60465 Q9BY76 (ANGPTL4) W C 349 rs1033145581 Benign
60466 Q9BY76 (ANGPTL4) G R 361 rs755737249 Benign
60467 Q9BY76 (ANGPTL4) G S 361 rs755737249 Benign
60468 Q9BY76 (ANGPTL4) R Q 371 rs779488814 Benign
60469 Q9BY76 (ANGPTL4) R W 384 rs146942305 Benign
60470 Q9BY79 (MFRP) R G 54 rs139436396 Benign
60471 Q9BY79 (MFRP) I V 119 rs4639950 Benign
60472 Q9BY79 (MFRP) V M 136 rs3814762 Benign
60473 Q9BY79 (MFRP) I T 182 rs121908190 Disease: Nanophthalmo s 2 (NNO2) [MIM:609549]
60474 Q9BY79 (MFRP) G S 449 rs139725672 Benign
60475 Q9BY79 (MFRP) Q H 514 rs368172459 Benign
60476 Q9BY84 (DUSP16) T M 23 rs36049447 Benign
60477 Q9BY84 (DUSP16) V M 366 rs3809199 Benign
60478 Q9BYB0 (SHANK3) P A 141 rs397514705 Disease: Phelan- McDermid syndrome (PHMDS) [MIM:606232]
60479 Q9BYB0 (SHANK3) A G 198 rs1232069989 Benign
60480 Q9BYB0 (SHANK3) A T 224 rs766856815 Benign
60481 Q9BYB0 (SHANK3) I T 245 rs9616915 Benign
60482 Q9BYB0 (SHANK3) H Q 493 - Benign
60483 Q9BYB0 (SHANK3) R W 536 rs387906933 Disease: Schizophreni a 15 (SCZD15) [MIM:613950]
60484 Q9BYB0 (SHANK3) A T 720 - Benign
60485 Q9BYB0 (SHANK3) S T 952 rs1340094921 Benign
60486 Q9BYB0 (SHANK3) A G 963 - Benign
60487 Q9BYB0 (SHANK3) G V 1010 - Benign
60488 Q9BYB0 (SHANK3) G V 1011 rs767058690 Benign
60489 Q9BYB0 (SHANK3) P H 1134 rs769454362 Benign
60490 Q9BYB0 (SHANK3) R H 1231 rs750186589 Benign
60491 Q9BYB0 (SHANK3) R K 1298 rs201483867 Benign
60492 Q9BYB0 (SHANK3) V G 1333 rs200087210 Benign
60493 Q9BYB0 (SHANK3) A S 1452 - Disease: Phelan- McDermid syndrome (PHMDS) [MIM:606232]
60494 Q9BYB0 (SHANK3) I V 1546 rs1389307970 Benign
60495 Q9BYB0 (SHANK3) S G 1566 rs1481014682 Benign
60496 Q9BYB0 (SHANK3) P T 1645 - Benign
60497 Q9BYB4 (GNB1L) E K 30 rs35178436 Benign
60498 Q9BYB4 (GNB1L) R H 37 rs5748449 Benign
60499 Q9BYB4 (GNB1L) W G 239 rs2073770 Benign
60500 Q9BYC2 (OXCT2) E D 250 rs7542609 Benign
60501 Q9BYC2 (OXCT2) L R 285 rs230321 Benign
60502 Q9BYC5 (FUT8) K Q 101 rs2229678 Benign
60503 Q9BYC5 (FUT8) T K 267 rs35949016 Benign
60504 Q9BYC5 (FUT8) R G 337 - Disease: Congenital disorder of glycosylatio n with defective fucosylation 1 (CDGF1) [MIM:618005]
60505 Q9BYD2 (MRPL9) E G 67 rs7007 Benign
60506 Q9BYD2 (MRPL9) E A 210 rs8480 Benign
60507 Q9BYD6 (MRPL1) T K 47 rs17851275 Benign
60508 Q9BYD6 (MRPL1) F S 177 rs17855456 Benign
60509 Q9BYD9 (ACTRT3) E K 234 rs2068178 Benign
60510 Q9BYE0 (HES7) R W 25 rs113994160 Disease: Spondylocost al dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]
60511 Q9BYE0 (HES7) I V 58 rs387906979 Disease: Spondylocost al dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]
60512 Q9BYE0 (HES7) D Y 186 rs387906978 Disease: Spondylocost al dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]
60513 Q9BYE3 (LCE3D) G V 43 rs512208 Benign
60514 Q9BYE3 (LCE3D) G V 81 rs57201979 Benign
60515 Q9BYE9 (CDHR2) Q H 107 rs6886860 Benign
60516 Q9BYE9 (CDHR2) A G 415 rs3762960 Benign
60517 Q9BYE9 (CDHR2) V A 424 rs11134982 Benign
60518 Q9BYE9 (CDHR2) L P 766 rs752138 Benign
60519 Q9BYE9 (CDHR2) T M 901 rs35018750 Benign
60520 Q9BYE9 (CDHR2) V M 948 rs3749625 Benign
60521 Q9BYE9 (CDHR2) P L 1004 rs371676123 Benign
60522 Q9BYE9 (CDHR2) T M 1128 rs2291442 Benign
60523 Q9BYE9 (CDHR2) L M 1164 rs17078347 Benign
60524 Q9BYF1 (ACE2) K R 26 rs4646116 Benign
60525 Q9BYF1 (ACE2) N S 638 rs183135788 Benign
60526 Q9BYG3 (NIFK) P Q 144 rs17852212 Benign
60527 Q9BYG7 (MRO) R S 39 rs4940019 Benign
60528 Q9BYG7 (MRO) T A 134 rs2849233 Benign
60529 Q9BYG8 (GSDMC) P S 23 rs10090835 Benign
60530 Q9BYG8 (GSDMC) R K 150 rs16904151 Benign
60531 Q9BYG8 (GSDMC) M T 475 rs4144738 Benign
60532 Q9BYH1 (SEZ6L) P L 52 rs6004989 Benign
60533 Q9BYH1 (SEZ6L) W L 185 rs137203 Benign
60534 Q9BYH1 (SEZ6L) M I 430 rs663048 Benign
60535 Q9BYH1 (SEZ6L) Q H 671 rs586542 Benign
60536 Q9BYH8 (NFKBIZ) T S 307 rs3821727 Benign
60537 Q9BYI3 (FAM126A) L P 53 rs72549407 Disease: Leukodystrop hy, hypomyelinat ing, 5 (HLD5) [MIM:610532]
60538 Q9BYI3 (FAM126A) C R 57 - Disease: Leukodystrop hy, hypomyelinat ing, 5 (HLD5) [MIM:610532]
60539 Q9BYI3 (FAM126A) R Q 217 rs192409840 Benign
60540 Q9BYJ0 (FGFBP2) S N 28 rs35496730 Benign
60541 Q9BYJ0 (FGFBP2) F L 84 rs2286459 Benign
60542 Q9BYJ0 (FGFBP2) P S 90 rs758329 Benign
60543 Q9BYJ1 (ALOXE3) L M 237 rs121434235 Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
60544 Q9BYJ1 (ALOXE3) G V 281 rs786205120 Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
60545 Q9BYJ1 (ALOXE3) R S 396 rs121434234 Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
60546 Q9BYJ1 (ALOXE3) L P 427 rs1355284797 Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
60547 Q9BYJ1 (ALOXE3) V F 500 rs121434232 Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
60548 Q9BYJ1 (ALOXE3) P L 630 rs147149459 Disease: Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
60549 Q9BYJ4 (TRIM34) T S 276 rs6578670 Benign
60550 Q9BYJ4 (TRIM34) D H 282 rs3740997 Benign
60551 Q9BYJ4 (TRIM34) N K 404 rs16933844 Benign
60552 Q9BYK8 (HELZ2) S N 788 rs438363 Benign
60553 Q9BYK8 (HELZ2) H R 1123 rs310632 Benign
60554 Q9BYK8 (HELZ2) S L 1152 rs35817585 Benign
60555 Q9BYK8 (HELZ2) V L 1308 rs310631 Benign
60556 Q9BYK8 (HELZ2) R K 1381 rs3810487 Benign
60557 Q9BYK8 (HELZ2) L R 1821 rs3810486 Benign
60558 Q9BYK8 (HELZ2) T A 1889 rs34980032 Benign
60559 Q9BYK8 (HELZ2) P L 2016 rs3810485 Benign
60560 Q9BYK8 (HELZ2) Q E 2049 rs3810483 Benign
60561 Q9BYK8 (HELZ2) T M 2170 rs3810481 Benign
60562 Q9BYM8 (RBCK1) A P 18 - Disease: Polyglucosan body myopathy 1 with or without immunodefici ency (PGBM1) [MIM:615895]
60563 Q9BYM8 (RBCK1) N S 387 rs566912235 Disease: Polyglucosan body myopathy 1 with or without immunodefici ency (PGBM1) [MIM:615895]
60564 Q9BYP7 (WNK3) Q H 704 rs56077971 Benign
60565 Q9BYP7 (WNK3) A T 998 rs56404148 Benign
60566 Q9BYP7 (WNK3) K E 1169 rs55903619 Benign
60567 Q9BYP7 (WNK3) T I 1375 rs55879434 Benign
60568 Q9BYP9 (KRTAP9-9) P S 36 rs9903833 Benign
60569 Q9BYP9 (KRTAP9-9) C S 56 rs9902235 Benign
60570 Q9BYQ2 (KRTAP9-4) S Y 146 rs2191379 Benign
60571 Q9BYQ4 (KRTAP9-2) P S 36 rs9903833 Benign
60572 Q9BYQ4 (KRTAP9-2) C S 56 rs9902235 Benign
60573 Q9BYQ7 (KRTAP4-1) H R 66 rs2320231 Benign
60574 Q9BYQ7 (KRTAP4-1) S R 115 rs35382039 Benign
60575 Q9BYQ7 (KRTAP4-1) A T 134 rs398825 Benign
60576 Q9BYR0 (KRTAP4-7) S G 16 rs11655310 Benign
60577 Q9BYR0 (KRTAP4-7) D V 18 rs383835 Benign
60578 Q9BYR0 (KRTAP4-7) T S 68 rs11650484 Benign
60579 Q9BYR0 (KRTAP4-7) S C 168 - Benign
60580 Q9BYR2 (KRTAP4-5) C R 6 rs238829 Benign
60581 Q9BYR2 (KRTAP4-5) R C 22 rs1497383 Benign
60582 Q9BYR2 (KRTAP4-5) R H 67 rs238830 Benign
60583 Q9BYR2 (KRTAP4-5) C Y 125 rs1846044 Benign
60584 Q9BYR3 (KRTAP4-4) Y C 25 rs385055 Benign
60585 Q9BYR3 (KRTAP4-4) C S 35 rs444509 Benign
60586 Q9BYR3 (KRTAP4-4) R S 154 rs366700 Benign
60587 Q9BYR4 (KRTAP4-3) P S 122 rs428371 Benign
60588 Q9BYR4 (KRTAP4-3) P S 152 rs428371 Benign
60589 Q9BYR5 (KRTAP4-2) Y C 95 rs389784 Benign
60590 Q9BYR7 (KRTAP3-2) S G 8 rs9897046 Benign
60591 Q9BYR7 (KRTAP3-2) R C 27 rs3829598 Benign
60592 Q9BYR7 (KRTAP3-2) I T 46 rs3813050 Benign
60593 Q9BYS8 (LRRC2) V A 32 rs28687398 Benign
60594 Q9BYS8 (LRRC2) T A 83 rs17286758 Benign
60595 Q9BYS8 (LRRC2) A E 145 rs17078944 Benign
60596 Q9BYT1 (SLC17A9) R C 9 rs548728088 Disease: Porokeratosi s 8, disseminated superficial actinic type (POROK8) [MIM:616063]
60597 Q9BYT1 (SLC17A9) N S 228 rs2427463 Benign
60598 Q9BYT1 (SLC17A9) R Q 311 rs606231251 Disease: Porokeratosi s 8, disseminated superficial actinic type (POROK8) [MIM:616063]
60599 Q9BYT1 (SLC17A9) T M 397 rs7271712 Benign
60600 Q9BYT3 (STK33) K E 60 rs60786172 Benign
60601 Q9BYT3 (STK33) E D 98 rs34525052 Benign
60602 Q9BYT3 (STK33) D E 436 rs3751096 Benign
60603 Q9BYT3 (STK33) A T 437 rs3751095 Benign
60604 Q9BYT3 (STK33) A E 458 rs35296353 Benign
60605 Q9BYT8 (NLN) G S 79 rs34339013 Benign
60606 Q9BYT8 (NLN) S G 323 rs34063558 Benign
60607 Q9BYT8 (NLN) K R 372 rs6863012 Benign
60608 Q9BYT8 (NLN) S G 417 rs2289884 Benign
60609 Q9BYT8 (NLN) P S 704 rs6860508 Benign
60610 Q9BYT9 (ANO3) W C 490 - Disease: Dystonia 24 (DYT24) [MIM:615034]
60611 Q9BYT9 (ANO3) R W 494 rs587776922 Disease: Dystonia 24 (DYT24) [MIM:615034]
60612 Q9BYT9 (ANO3) S G 685 rs587776923 Disease: Dystonia 24 (DYT24) [MIM:615034]
60613 Q9BYT9 (ANO3) L V 781 rs11825056 Benign
60614 Q9BYT9 (ANO3) K N 862 rs1277790116 Disease: Dystonia 24 (DYT24) [MIM:615034]
60615 Q9BYU1 (PBX4) V I 169 rs8108180 Benign
60616 Q9BYU1 (PBX4) M V 177 rs8108981 Benign
60617 Q9BYV1 (AGXT2) S I 102 rs37370 Benign
60618 Q9BYV1 (AGXT2) S N 102 rs37370 Benign
60619 Q9BYV1 (AGXT2) S T 102 rs37370 Benign
60620 Q9BYV1 (AGXT2) G R 132 rs16870794 Benign
60621 Q9BYV1 (AGXT2) V I 140 rs37369 Benign
60622 Q9BYV1 (AGXT2) T I 212 rs180749 Benign
60623 Q9BYV1 (AGXT2) P R 492 rs17245714 Benign
60624 Q9BYV1 (AGXT2) V L 498 rs16899974 Benign
60625 Q9BYV6 (TRIM55) I V 54 rs1320007526 Benign
60626 Q9BYV6 (TRIM55) S F 252 - Benign
60627 Q9BYV6 (TRIM55) N K 257 rs61741078 Benign
60628 Q9BYV6 (TRIM55) V I 258 rs1279027783 Benign
60629 Q9BYV6 (TRIM55) E Q 336 rs770907206 Benign
60630 Q9BYV6 (TRIM55) K R 343 rs7843605 Benign
60631 Q9BYV6 (TRIM55) T I 418 - Benign
60632 Q9BYV6 (TRIM55) P L 458 - Benign
60633 Q9BYV6 (TRIM55) A T 488 rs770146015 Benign
60634 Q9BYV7 (BCO2) L P 231 rs10891338 Benign
60635 Q9BYV7 (BCO2) G E 289 rs17113607 Benign
60636 Q9BYV7 (BCO2) I L 548 rs2217401 Benign
60637 Q9BYV8 (CEP41) M T 36 rs368178632 Disease: -
60638 Q9BYV8 (CEP41) R H 179 rs140259402 Disease: -
60639 Q9BYV8 (CEP41) R C 360 rs371812716 Disease: -
60640 Q9BYV9 (BACH2) L P 24 - Disease: Immunodefici ency 60 (IMD60) [MIM:618394]
60641 Q9BYV9 (BACH2) A T 418 rs34335140 Benign
60642 Q9BYW1 (SLC2A11) D N 60 rs7292659 Benign
60643 Q9BYW1 (SLC2A11) R Q 232 rs9608213 Benign
60644 Q9BYW1 (SLC2A11) R Q 301 rs36015336 Benign
60645 Q9BYW1 (SLC2A11) I F 420 rs34096096 Benign
60646 Q9BYW1 (SLC2A11) K E 469 rs60882514 Benign
60647 Q9BYW2 (SETD2) V L 768 rs9311404 Benign
60648 Q9BYW2 (SETD2) E Q 902 rs58906143 Benign
60649 Q9BYW2 (SETD2) N D 1733 - Disease: Renal cell carcinoma (RCC) [MIM:144700]
60650 Q9BYW2 (SETD2) S P 1769 - Disease: Renal cell carcinoma (RCC) [MIM:144700]
60651 Q9BYW2 (SETD2) A D 1868 rs11721074 Benign
60652 Q9BYW2 (SETD2) P L 1962 rs4082155 Benign
60653 Q9BYX2 (TBC1D2) P T 241 rs879368 Benign
60654 Q9BYX2 (TBC1D2) L S 253 rs879369 Benign
60655 Q9BYX2 (TBC1D2) G V 261 rs1573025 Benign
60656 Q9BYX4 (IFIH1) R G 337 rs587777447 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60657 Q9BYX4 (IFIH1) L F 372 rs587777576 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60658 Q9BYX4 (IFIH1) D V 393 rs587777449 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60659 Q9BYX4 (IFIH1) A T 452 rs587777575 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60660 Q9BYX4 (IFIH1) H R 460 rs10930046 Benign
60661 Q9BYX4 (IFIH1) G R 495 rs672601336 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60662 Q9BYX4 (IFIH1) R Q 720 rs587777445 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60663 Q9BYX4 (IFIH1) R C 779 rs587777448 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60664 Q9BYX4 (IFIH1) R H 779 rs587777446 Disease: Aicardi- Goutieres syndrome 7 (AGS7) [MIM:615846]
60665 Q9BYX4 (IFIH1) R Q 822 rs376048533 Disease: Singleton- Merten syndrome 1 (SGMRT1) [MIM:182250]
60666 Q9BYX4 (IFIH1) H R 843 rs3747517 Benign
60667 Q9BYX4 (IFIH1) A T 946 rs1990760 Benign
60668 Q9BYZ2 (LDHAL6B) V M 14 rs3809530 Benign
60669 Q9BYZ2 (LDHAL6B) P L 30 rs3809529 Benign
60670 Q9BYZ2 (LDHAL6B) P S 259 rs35212259 Benign
60671 Q9BYZ2 (LDHAL6B) I T 326 rs3825937 Benign
60672 Q9BYZ6 (RHOBTB2) A G 452 rs1554504656 Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004]
60673 Q9BYZ6 (RHOBTB2) R H 461 rs1554504663 Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004]
60674 Q9BYZ6 (RHOBTB2) R C 485 - Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004]
60675 Q9BYZ6 (RHOBTB2) N D 488 rs1554504678 Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004]
60676 Q9BYZ6 (RHOBTB2) R Q 489 rs1554504684 Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004]
60677 Q9BYZ6 (RHOBTB2) R W 489 rs1554504681 Disease: Epileptic encephalopat hy, early infantile, 64 (EIEE64) [MIM:618004]
60678 Q9BYZ8 (REG4) N H 135 rs34996202 Benign
60679 Q9BZ11 (ADAM33) N S 109 rs41467948 Benign
60680 Q9BZ11 (ADAM33) T A 178 rs3918392 Benign
60681 Q9BZ11 (ADAM33) T M 272 rs41534847 Benign
60682 Q9BZ11 (ADAM33) V I 316 rs41459049 Benign
60683 Q9BZ11 (ADAM33) P S 336 rs41483049 Benign
60684 Q9BZ11 (ADAM33) A S 365 rs41419248 Benign
60685 Q9BZ11 (ADAM33) D E 441 rs41382144 Benign
60686 Q9BZ11 (ADAM33) W R 515 rs615436 Benign
60687 Q9BZ11 (ADAM33) L H 612 rs41453444 Benign
60688 Q9BZ11 (ADAM33) V I 710 rs3918396 Benign
60689 Q9BZ11 (ADAM33) C G 739 rs41434648 Benign
60690 Q9BZ11 (ADAM33) D Y 742 rs41462450 Benign
60691 Q9BZ11 (ADAM33) M T 764 rs2280091 Benign
60692 Q9BZ11 (ADAM33) P S 774 rs2280090 Benign
60693 Q9BZ19 (ANKRD60) R C 295 rs584855 Benign
60694 Q9BZ23 (PANK2) R P 94 rs71647827 Benign
60695 Q9BZ23 (PANK2) L Q 111 rs71647828 Benign
60696 Q9BZ23 (PANK2) G A 126 rs3737084 Benign
60697 Q9BZ23 (PANK2) E G 134 rs765679726 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60698 Q9BZ23 (PANK2) G V 219 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60699 Q9BZ23 (PANK2) T A 234 rs137852965 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60700 Q9BZ23 (PANK2) R P 249 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60701 Q9BZ23 (PANK2) R W 264 rs137852961 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60702 Q9BZ23 (PANK2) R C 278 rs137852966 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60703 Q9BZ23 (PANK2) R L 278 rs1348762206 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60704 Q9BZ23 (PANK2) L V 282 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60705 Q9BZ23 (PANK2) R C 286 rs137852962 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60706 Q9BZ23 (PANK2) E D 322 rs974575417 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60707 Q9BZ23 (PANK2) E G 322 rs768230831 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60708 Q9BZ23 (PANK2) T I 327 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60709 Q9BZ23 (PANK2) S P 351 rs137852964 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60710 Q9BZ23 (PANK2) N S 355 rs746484727 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60711 Q9BZ23 (PANK2) R Q 357 rs754521581 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60712 Q9BZ23 (PANK2) A T 398 rs759223327 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60713 Q9BZ23 (PANK2) N I 404 rs752078407 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60714 Q9BZ23 (PANK2) L P 413 rs750176786 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60715 Q9BZ23 (PANK2) C Y 428 rs1012947103 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60716 Q9BZ23 (PANK2) D N 447 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60717 Q9BZ23 (PANK2) S N 471 rs137852963 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60718 Q9BZ23 (PANK2) I T 497 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60719 Q9BZ23 (PANK2) N I 500 rs759332123 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60720 Q9BZ23 (PANK2) I T 501 rs775459398 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60721 Q9BZ23 (PANK2) A V 509 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60722 Q9BZ23 (PANK2) N D 511 rs767653843 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60723 Q9BZ23 (PANK2) G R 521 rs137852959 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60724 Q9BZ23 (PANK2) R W 532 - Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60725 Q9BZ23 (PANK2) L P 563 rs1324077575 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60726 Q9BZ23 (PANK2) P L 570 rs41279408 Disease: Neurodegener ation with brain iron accumulation 1 (NBIA1) [MIM:234200]
60727 Q9BZ29 (DOCK9) A T 455 rs56010605 Benign
60728 Q9BZ29 (DOCK9) K E 1416 rs16955934 Benign
60729 Q9BZ71 (PITPNM3) P S 17 rs28493751 Benign
60730 Q9BZ71 (PITPNM3) A T 80 rs3809835 Benign
60731 Q9BZ71 (PITPNM3) Q H 626 rs76024428 Disease: Cone-rod dystrophy 5 (CORD5) [MIM:600977]
60732 Q9BZ72 (PITPNM2) P L 9 rs17884869 Benign
60733 Q9BZ72 (PITPNM2) L M 661 rs55813219 Benign
60734 Q9BZ76 (CNTNAP3) A S 628 rs1758272 Benign
60735 Q9BZ76 (CNTNAP3) R H 845 rs7852039 Benign
60736 Q9BZ95 (NSD3) T M 186 rs13034 Benign
60737 Q9BZ95 (NSD3) R P 383 rs2234552 Benign
60738 Q9BZA7 (PCDH11X) R Q 1018 rs4252205 Benign
60739 Q9BZA8 (PCDH11Y) V F 917 rs2524543 Benign
60740 Q9BZA8 (PCDH11Y) N K 1012 rs2563389 Benign
60741 Q9BZA8 (PCDH11Y) A T 1320 rs2556900 Benign
60742 Q9BZB8 (CPEB1) M I 233 - Benign
60743 Q9BZC1 (CELF4) G S 388 rs12458669 Benign
60744 Q9BZC7 (ABCA2) P H 583 rs908828 Benign
60745 Q9BZC7 (ABCA2) F V 674 rs2090625 Benign
60746 Q9BZD2 (SLC29A3) R G 18 rs2277257 Benign
60747 Q9BZD2 (SLC29A3) M R 116 rs267607057 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60748 Q9BZD2 (SLC29A3) R C 134 rs1430557607 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60749 Q9BZD2 (SLC29A3) S F 158 rs780668 Benign
60750 Q9BZD2 (SLC29A3) G V 163 rs143557881 Benign
60751 Q9BZD2 (SLC29A3) S R 184 rs1023257012 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60752 Q9BZD2 (SLC29A3) V I 239 rs2252996 Benign
60753 Q9BZD2 (SLC29A3) L P 281 rs79737301 Benign
60754 Q9BZD2 (SLC29A3) I V 326 rs2487068 Benign
60755 Q9BZD2 (SLC29A3) R Q 363 rs387907066 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60756 Q9BZD2 (SLC29A3) R W 363 rs387907067 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60757 Q9BZD2 (SLC29A3) V M 407 rs144517514 Benign
60758 Q9BZD2 (SLC29A3) G S 427 rs121912583 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60759 Q9BZD2 (SLC29A3) G R 437 rs121912584 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60760 Q9BZD2 (SLC29A3) T R 449 rs267607058 Disease: Histiocytosi s-lymphadeno pathy plus syndrome (HLAS) [MIM:602782]
60761 Q9BZD2 (SLC29A3) V E 452 rs999940 Benign
60762 Q9BZD4 (NUF2) S L 229 rs11802875 Benign
60763 Q9BZD4 (NUF2) S R 239 rs16852767 Benign
60764 Q9BZD6 (PRRG4) E K 33 rs33962176 Benign
60765 Q9BZD6 (PRRG4) C R 143 rs34736080 Benign
60766 Q9BZD6 (PRRG4) P Q 176 rs34139105 Benign
60767 Q9BZD7 (PRRG3) N S 153 rs4323608 Benign
60768 Q9BZE0 (GLIS2) T A 492 rs8057701 Benign
60769 Q9BZE1 (MRPL37) L V 322 rs2275408 Benign
60770 Q9BZE1 (MRPL37) C S 366 rs13571 Benign
60771 Q9BZE2 (PUS3) Y D 3 rs622756 Benign
60772 Q9BZE2 (PUS3) A S 46 rs549990 Benign
60773 Q9BZE2 (PUS3) E D 460 rs3088241 Benign
60774 Q9BZE4 (GTPBP4) R H 525 rs3207775 Benign
60775 Q9BZE7 (C22orf23) M L 136 rs35562630 Benign
60776 Q9BZE9 (ASPSCR1) L Q 252 rs8074498 Benign
60777 Q9BZE9 (ASPSCR1) V M 318 rs34085048 Benign
60778 Q9BZE9 (ASPSCR1) D E 487 rs13087 Benign
60779 Q9BZF2 (OSBPL7) M I 148 rs8076196 Benign
60780 Q9BZF2 (OSBPL7) T I 156 rs35437144 Benign
60781 Q9BZF2 (OSBPL7) A E 169 rs8071195 Benign
60782 Q9BZF3 (OSBPL6) R Q 53 rs35032920 Benign
60783 Q9BZF3 (OSBPL6) P L 58 rs34874235 Benign
60784 Q9BZF9 (UACA) I T 814 rs3743315 Benign
60785 Q9BZG1 (RAB34) V L 197 rs12125 Benign
60786 Q9BZG2 (ACP4) R C 76 rs1057519277 Disease: Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
60787 Q9BZG2 (ACP4) R C 111 rs202073531 Disease: Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
60788 Q9BZG2 (ACP4) S L 238 rs763573828 Disease: Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
60789 Q9BZG8 (DPH1) M K 6 rs757167361 Disease: Developmenta l delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) [MIM:616901]
60790 Q9BZG8 (DPH1) I M 51 rs8070453 Benign
60791 Q9BZG8 (DPH1) K R 226 rs1131600 Benign
60792 Q9BZG8 (DPH1) L P 234 rs730882250 Disease: Developmenta l delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) [MIM:616901]
60793 Q9BZH6 (WDR11) R W 395 rs201051480 Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
60794 Q9BZH6 (WDR11) A T 435 rs318240760 Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
60795 Q9BZH6 (WDR11) R Q 448 rs144440500 Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
60796 Q9BZH6 (WDR11) P L 537 rs761599645 Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
60797 Q9BZH6 (WDR11) H Q 690 rs318240761 Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
60798 Q9BZH6 (WDR11) K Q 978 rs144531702 Benign
60799 Q9BZH6 (WDR11) F L 1150 rs139007744 Disease: Hypogonadotr opic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]
60800 Q9BZI7 (UPF3B) Y D 160 rs122468182 Disease: Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]
60801 Q9BZJ0 (CRNKL1) G R 35 rs7508949 Benign
60802 Q9BZJ0 (CRNKL1) F L 51 rs2273058 Benign
60803 Q9BZJ0 (CRNKL1) Q H 111 rs2255258 Benign
60804 Q9BZJ0 (CRNKL1) T A 158 rs2255255 Benign
60805 Q9BZJ0 (CRNKL1) V I 843 rs35201190 Benign
60806 Q9BZJ3 (TPSD1) P R 22 rs3865205 Benign
60807 Q9BZJ3 (TPSD1) V A 25 rs1800984 Benign
60808 Q9BZJ3 (TPSD1) V M 83 rs1141967 Benign
60809 Q9BZJ4 (SLC25A39) F L 247 rs2011951 Benign
60810 Q9BZJ6 (GPR63) V M 21 rs35358396 Benign
60811 Q9BZJ7 (GPR62) T P 151 rs28587738 Benign
60812 Q9BZJ7 (GPR62) H R 216 rs28651222 Benign
60813 Q9BZJ7 (GPR62) V L 313 rs323871 Benign
60814 Q9BZK7 (TBL1XR1) G D 70 rs786205859 Disease: Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]
60815 Q9BZK7 (TBL1XR1) A S 116 rs372813783 Benign
60816 Q9BZK7 (TBL1XR1) Y C 245 rs878854401 Disease: Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]
60817 Q9BZK7 (TBL1XR1) L P 282 - Disease: Mental retardation, autosomal dominant 41 (MRD41) [MIM:616944]
60818 Q9BZK7 (TBL1XR1) Y C 446 rs878854402 Disease: Pierpont syndrome (PRPTS) [MIM:602342]
60819 Q9BZL4 (PPP1R12C) R C 419 rs35849605 Benign
60820 Q9BZL6 (PRKD2) V M 324 rs45455991 Benign
60821 Q9BZL6 (PRKD2) A V 496 rs55716765 Benign
60822 Q9BZL6 (PRKD2) S G 604 rs34325043 Benign
60823 Q9BZL6 (PRKD2) W R 773 rs55933311 Benign
60824 Q9BZL6 (PRKD2) A V 835 rs314665 Benign
60825 Q9BZM3 (GSX2) G S 107 rs13144341 Benign
60826 Q9BZM3 (GSX2) Q R 251 - Disease: Diencephalic -mesencephal ic junction dysplasia syndrome 2 (DMJDS2) [MIM:618646]
60827 Q9BZM6 (ULBP1) L I 101 rs6903584 Benign
60828 Q9BZP6 (CHIA) N D 45 rs41282492 Benign
60829 Q9BZP6 (CHIA) D N 47 rs41282494 Benign
60830 Q9BZP6 (CHIA) R M 61 rs41282496 Benign
60831 Q9BZP6 (CHIA) G R 102 rs3818822 Benign
60832 Q9BZP6 (CHIA) K R 125 rs61756687 Benign
60833 Q9BZP6 (CHIA) V G 324 rs2256721 Benign
60834 Q9BZP6 (CHIA) I V 339 rs2275253 Benign
60835 Q9BZP6 (CHIA) F S 354 rs2275254 Benign
60836 Q9BZP6 (CHIA) F L 377 rs36011905 Benign
60837 Q9BZP6 (CHIA) V G 432 rs2256721 Benign
60838 Q9BZQ2 (SHCBP1L) V M 491 rs12138972 Benign
60839 Q9BZQ6 (EDEM3) I S 820 rs9425343 Benign
60840 Q9BZQ8 (NIBAN1) S L 633 rs12750174 Benign
60841 Q9BZQ8 (NIBAN1) D N 692 rs35704242 Benign
60842 Q9BZQ8 (NIBAN1) V M 720 rs17313374 Benign
60843 Q9BZQ8 (NIBAN1) G S 830 rs35601690 Benign
60844 Q9BZR6 (RTN4R) V M 53 rs145292678 Benign
60845 Q9BZR6 (RTN4R) R H 68 rs145773589 Benign
60846 Q9BZR6 (RTN4R) R W 119 rs74315508 Disease: Schizophreni a (SCZD) [MIM:181500]
60847 Q9BZR6 (RTN4R) G S 141 rs760855779 Benign
60848 Q9BZR6 (RTN4R) R H 196 rs74315509 Disease: Schizophreni a (SCZD) [MIM:181500]
60849 Q9BZR6 (RTN4R) R H 227 rs576939822 Benign
60850 Q9BZR6 (RTN4R) D N 259 rs3747073 Benign
60851 Q9BZR6 (RTN4R) V M 263 rs752810777 Benign
60852 Q9BZR6 (RTN4R) R H 292 rs1432033565 Disease: Schizophreni a (SCZD) [MIM:181500]
60853 Q9BZR6 (RTN4R) G S 314 rs112151786 Benign
60854 Q9BZR6 (RTN4R) P L 329 rs757507039 Benign
60855 Q9BZR6 (RTN4R) V M 363 rs149231717 Benign
60856 Q9BZR6 (RTN4R) R Q 377 rs779384862 Disease: Schizophreni a (SCZD) [MIM:181500]
60857 Q9BZR6 (RTN4R) R W 377 rs748655075 Disease: Schizophreni a (SCZD) [MIM:181500]
60858 Q9BZS1 (FOXP3) L P 242 - Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60859 Q9BZS1 (FOXP3) F L 324 rs122467173 Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60860 Q9BZS1 (FOXP3) P A 339 rs886044787 Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60861 Q9BZS1 (FOXP3) R H 347 - Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60862 Q9BZS1 (FOXP3) I V 363 - Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60863 Q9BZS1 (FOXP3) F C 371 rs122467169 Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60864 Q9BZS1 (FOXP3) F A 373 rs122467172 Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60865 Q9BZS1 (FOXP3) F C 374 - Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60866 Q9BZS1 (FOXP3) A T 384 rs122467170 Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60867 Q9BZS1 (FOXP3) R W 397 rs28935477 Disease: Immunodefici ency polyendocrin opathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
60868 Q9BZV1 (UBXN6) A T 31 rs1127888 Benign
60869 Q9BZV1 (UBXN6) P L 425 rs35436704 Benign
60870 Q9BZV2 (SLC19A3) G V 23 rs121917882 Disease: Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine- responsive type (THMD2) [MIM:607483]
60871 Q9BZV2 (SLC19A3) V I 174 rs59736804 Benign
60872 Q9BZV2 (SLC19A3) V A 350 rs34507036 Benign
60873 Q9BZV2 (SLC19A3) T A 422 rs121917884 Disease: Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine- responsive type (THMD2) [MIM:607483]
60874 Q9BZV3 (IMPG2) F L 124 rs201893545 Disease: Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]
60875 Q9BZV3 (IMPG2) K N 344 rs34375459 Benign
60876 Q9BZV3 (IMPG2) T I 674 rs571391 Benign
60877 Q9BZV3 (IMPG2) P L 1013 rs116450347 Benign
60878 Q9BZV3 (IMPG2) C F 1077 rs713993049 Disease: Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]
60879 Q9BZW2 (SLC13A1) F L 42 rs28364181 Benign
60880 Q9BZW2 (SLC13A1) V I 44 rs28364177 Benign
60881 Q9BZW2 (SLC13A1) Q E 157 rs28364196 Benign
60882 Q9BZW2 (SLC13A1) N S 174 rs2140516 Benign
60883 Q9BZW2 (SLC13A1) Y C 205 rs28364231 Benign
60884 Q9BZW2 (SLC13A1) T M 240 rs10231144 Benign
60885 Q9BZW2 (SLC13A1) R H 277 rs28364200 Benign
60886 Q9BZW2 (SLC13A1) V A 332 rs28364201 Benign
60887 Q9BZW2 (SLC13A1) I T 392 rs28364210 Benign
60888 Q9BZW4 (TM6SF2) E K 167 rs58542926 Benign
60889 Q9BZW5 (TM6SF1) I T 17 rs1062232 Benign
60890 Q9BZW5 (TM6SF1) P S 59 rs1989 Benign
60891 Q9BZW8 (CD244) N D 89 rs34846692 Benign
60892 Q9BZW8 (CD244) S F 323 rs12064925 Benign
60893 Q9BZY9 (TRIM31) P R 17 rs36063651 Benign
60894 Q9BZY9 (TRIM31) R C 118 rs3734838 Benign
60895 Q9BZY9 (TRIM31) V I 232 rs2523989 Benign
60896 Q9BZY9 (TRIM31) L P 235 rs35775852 Benign
60897 Q9BZY9 (TRIM31) E K 421 rs1116221 Benign
60898 Q9BZZ2 (SIGLEC1) V L 141 rs35953127 Benign
60899 Q9BZZ2 (SIGLEC1) V M 221 rs6037651 Benign
60900 Q9BZZ2 (SIGLEC1) K R 239 rs625372 Benign
60901 Q9BZZ2 (SIGLEC1) R H 464 rs34924243 Benign
60902 Q9BZZ2 (SIGLEC1) H P 919 rs709012 Benign
60903 Q9BZZ2 (SIGLEC1) A V 974 rs3746638 Benign
60904 Q9BZZ2 (SIGLEC1) S Y 1335 rs3746636 Benign
60905 Q9BZZ2 (SIGLEC1) R W 1487 rs16988873 Benign
60906 Q9BZZ2 (SIGLEC1) A P 1519 rs2853217 Benign
60907 Q9BZZ5 (API5) P S 276 - Benign
60908 Q9BZZ5 (API5) M V 300 rs5743240 Benign
60909 Q9BZZ5 (API5) G S 493 rs2862934 Benign
60910 Q9C000 (NLRP1) A T 54 rs1057519492 Disease: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]
60911 Q9C000 (NLRP1) A V 66 rs1057519493 Disease: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]
60912 Q9C000 (NLRP1) M T 77 rs397514692 Disease: Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]
60913 Q9C000 (NLRP1) L H 155 rs12150220 Disease: Vitiligo- associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]
60914 Q9C000 (NLRP1) T S 246 rs11651595 Benign
60915 Q9C000 (NLRP1) R Q 404 rs3744718 Benign
60916 Q9C000 (NLRP1) T M 878 rs11657747 Benign
60917 Q9C000 (NLRP1) V M 1059 rs2301582 Benign
60918 Q9C000 (NLRP1) H Y 1069 rs9907167 Benign
60919 Q9C000 (NLRP1) M V 1119 rs35596958 Benign
60920 Q9C000 (NLRP1) M V 1184 rs11651270 Benign
60921 Q9C000 (NLRP1) V L 1241 rs11653832 Benign
60922 Q9C000 (NLRP1) R C 1366 rs2137722 Benign
60923 Q9C004 (SPRY4) T M 77 rs774674946 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60924 Q9C004 (SPRY4) D N 82 rs568363732 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60925 Q9C004 (SPRY4) K R 154 rs78310959 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60926 Q9C004 (SPRY4) C Y 186 rs148983803 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60927 Q9C004 (SPRY4) S Y 218 rs139512218 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60928 Q9C004 (SPRY4) V M 258 rs200364529 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60929 Q9C004 (SPRY4) V I 281 rs142439525 Disease: Hypogonadotr opic hypogonadism 17 with or without anosmia (HH17) [MIM:615266]
60930 Q9C009 (FOXQ1) T P 60 rs9502889 Benign
60931 Q9C009 (FOXQ1) Q P 61 rs9502890 Benign
60932 Q9C019 (TRIM15) I V 29 rs17194460 Benign
60933 Q9C019 (TRIM15) A T 42 rs17194467 Benign
60934 Q9C019 (TRIM15) E Q 84 rs17194474 Benign
60935 Q9C019 (TRIM15) L V 235 rs34823152 Benign
60936 Q9C019 (TRIM15) S N 324 rs929156 Benign
60937 Q9C026 (TRIM9) L F 653 rs2275462 Benign
60938 Q9C029 (TRIM7) A S 18 rs3857300 Benign
60939 Q9C029 (TRIM7) P S 73 rs2770946 Benign
60940 Q9C029 (TRIM7) Q E 95 rs2770945 Benign
60941 Q9C029 (TRIM7) V A 258 rs416574 Benign
60942 Q9C029 (TRIM7) G S 363 rs254460 Benign
60943 Q9C030 (TRIM6) E K 154 rs57856328 Benign
60944 Q9C035 (TRIM5) G S 31 rs59896509 Benign
60945 Q9C035 (TRIM5) H Y 43 rs3740996 Benign
60946 Q9C035 (TRIM5) C Y 58 rs61432120 Benign
60947 Q9C035 (TRIM5) G E 110 rs56348930 Benign
60948 Q9C035 (TRIM5) V F 112 rs11601507 Benign
60949 Q9C035 (TRIM5) R Q 136 rs10838525 Benign
60950 Q9C035 (TRIM5) G D 249 rs11038628 Benign
60951 Q9C035 (TRIM5) H Y 419 rs28381981 Benign
60952 Q9C035 (TRIM5) C S 467 rs59218593 Benign
60953 Q9C035 (TRIM5) P L 479 rs7104422 Benign
60954 Q9C037 (TRIM4) P S 367 rs35432946 Benign
60955 Q9C037 (TRIM4) S C 474 rs33998596 Benign
60956 Q9C040 (TRIM2) E V 227 rs587777063 Disease: Charcot- Marie-Tooth disease 2R (CMT2R) [MIM:615490]
60957 Q9C056 (NKX6-2) V A 209 rs2804003 Benign
60958 Q9C075 (KRT23) T A 303 rs9257 Benign
60959 Q9C075 (KRT23) S F 393 rs17856805 Benign
60960 Q9C086 (INO80B) W G 152 rs1054209 Benign
60961 Q9C091 (GREB1L) R H 128 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60962 Q9C091 (GREB1L) R L 192 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60963 Q9C091 (GREB1L) R Q 241 rs147048716 Benign
60964 Q9C091 (GREB1L) G V 273 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60965 Q9C091 (GREB1L) R Q 328 rs1311814599 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60966 Q9C091 (GREB1L) A G 497 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60967 Q9C091 (GREB1L) S R 605 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60968 Q9C091 (GREB1L) L F 716 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60969 Q9C091 (GREB1L) R C 751 rs1555654020 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60970 Q9C091 (GREB1L) R H 751 rs1343579561 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60971 Q9C091 (GREB1L) E Q 761 rs1465443065 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60972 Q9C091 (GREB1L) A V 926 rs569900756 Benign
60973 Q9C091 (GREB1L) R P 1066 rs766987038 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60974 Q9C091 (GREB1L) M T 1502 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60975 Q9C091 (GREB1L) D V 1509 rs1336205837 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60976 Q9C091 (GREB1L) H R 1536 rs1555662027 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60977 Q9C091 (GREB1L) V A 1549 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60978 Q9C091 (GREB1L) R S 1558 rs1045574508 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60979 Q9C091 (GREB1L) L P 1567 rs1555662061 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60980 Q9C091 (GREB1L) A V 1576 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60981 Q9C091 (GREB1L) V I 1615 rs1409376788 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60982 Q9C091 (GREB1L) I T 1655 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60983 Q9C091 (GREB1L) Y C 1664 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60984 Q9C091 (GREB1L) V M 1690 rs1555663997 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60985 Q9C091 (GREB1L) D N 1775 - Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60986 Q9C091 (GREB1L) L R 1793 rs1555664772 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60987 Q9C091 (GREB1L) R H 1884 rs1372640211 Disease: Renal hypodysplasi a/aplasia 3 (RHDA3) [MIM:617805]
60988 Q9C093 (SPEF2) N H 71 rs6897513 Benign
60989 Q9C093 (SPEF2) G S 74 rs34307272 Benign
60990 Q9C093 (SPEF2) R K 366 rs16902381 Benign
60991 Q9C093 (SPEF2) R Q 447 rs34852821 Benign
60992 Q9C093 (SPEF2) D N 500 rs34708521 Benign
60993 Q9C093 (SPEF2) N K 616 rs7710284 Benign
60994 Q9C093 (SPEF2) E G 655 rs12332369 Benign
60995 Q9C093 (SPEF2) A V 904 rs13170082 Benign
60996 Q9C093 (SPEF2) A P 934 rs13170390 Benign
60997 Q9C093 (SPEF2) K N 1482 rs2277044 Benign
60998 Q9C098 (DCLK3) R Q 24 rs56070233 Benign
60999 Q9C098 (DCLK3) E D 633 rs35704209 Benign
61000 Q9C099 (LRRCC1) H Q 69 rs16913589 Benign
61001 Q9C099 (LRRCC1) T A 210 rs3736038 Benign
61002 Q9C099 (LRRCC1) K N 613 rs6985225 Benign
61003 Q9C0A0 (CNTNAP4) L V 276 rs34251012 Benign
61004 Q9C0A0 (CNTNAP4) Q H 513 rs6564343 Benign
61005 Q9C0A0 (CNTNAP4) Q R 786 rs12933808 Benign
61006 Q9C0A0 (CNTNAP4) D E 1155 rs7202925 Benign
61007 Q9C0A0 (CNTNAP4) N S 1300 rs34198820 Benign
61008 Q9C0A1 (ZFHX2) R K 1913 rs1555344723 Disease: Marsili syndrome (MARSIS) [MIM:147430]
61009 Q9C0A6 (SETD5) R H 77 rs41387348 Benign
61010 Q9C0A6 (SETD5) R I 119 rs11720526 Benign
61011 Q9C0A6 (SETD5) S G 175 - Disease: Mental retardation, autosomal dominant 23 (MRD23) [MIM:615761]
61012 Q9C0A6 (SETD5) M V 1137 rs13327456 Benign
61013 Q9C0A6 (SETD5) T I 1308 rs11542009 Benign
61014 Q9C0B1 (FTO) R Q 316 rs121918214 Disease: Growth retardation, developmenta l delay, and facial dysmorphism (GDFD) [MIM:612938]
61015 Q9C0B1 (FTO) S F 319 rs781028867 Disease: Growth retardation, developmenta l delay, and facial dysmorphism (GDFD) [MIM:612938]
61016 Q9C0B1 (FTO) R Q 322 rs745616565 Disease: Growth retardation, developmenta l delay, and facial dysmorphism (GDFD) [MIM:612938]
61017 Q9C0B1 (FTO) A V 405 rs16952624 Benign
61018 Q9C0B2 (CFAP74) S I 50 rs13303083 Benign
61019 Q9C0B2 (CFAP74) I V 363 rs16824588 Benign
61020 Q9C0B2 (CFAP74) G C 628 rs3820011 Benign
61021 Q9C0B6 (BRINP2) Y C 71 rs16850984 Benign
61022 Q9C0B6 (BRINP2) L V 390 rs3176443 Benign
61023 Q9C0B9 (ZCCHC2) T A 941 rs35643152 Benign
61024 Q9C0C2 (TNKS1BP1) T S 322 rs4939134 Benign
61025 Q9C0C2 (TNKS1BP1) S N 714 rs34203865 Benign
61026 Q9C0C6 (CIPC) L F 31 rs11552006 Benign
61027 Q9C0C6 (CIPC) T A 203 rs759593 Benign
61028 Q9C0C9 (UBE2O) G S 1207 rs3803739 Benign
61029 Q9C0D0 (PHACTR1) I M 247 rs17602409 Benign
61030 Q9C0D0 (PHACTR1) N I 479 - Disease: Epileptic encephalopat hy, early infantile, 70 (EIEE70) [MIM:618298]
61031 Q9C0D0 (PHACTR1) L P 500 - Disease: Epileptic encephalopat hy, early infantile, 70 (EIEE70) [MIM:618298]
61032 Q9C0D0 (PHACTR1) R C 521 rs748743403 Disease: Epileptic encephalopat hy, early infantile, 70 (EIEE70) [MIM:618298]
61033 Q9C0D2 (CEP295) Q K 80 rs7128850 Benign
61034 Q9C0D2 (CEP295) R Q 208 rs10831088 Benign
61035 Q9C0D2 (CEP295) A E 499 rs4753495 Benign
61036 Q9C0D2 (CEP295) E K 1026 rs3802771 Benign
61037 Q9C0D2 (CEP295) A G 1270 rs2298707 Benign
61038 Q9C0D2 (CEP295) G E 1441 rs3802773 Benign
61039 Q9C0D2 (CEP295) L R 1459 rs3802774 Benign
61040 Q9C0D4 (ZNF518B) G S 92 rs10007352 Benign
61041 Q9C0D4 (ZNF518B) S P 105 rs10016702 Benign
61042 Q9C0D4 (ZNF518B) S N 523 rs9291410 Benign
61043 Q9C0D5 (TANC1) P S 30 rs34588551 Benign
61044 Q9C0D5 (TANC1) N S 251 rs12466551 Benign
61045 Q9C0D5 (TANC1) G S 1511 rs13421084 Benign
61046 Q9C0D5 (TANC1) T A 1573 rs4664277 Benign
61047 Q9C0D6 (FHDC1) L F 297 - Benign
61048 Q9C0D6 (FHDC1) R C 639 rs3811833 Benign
61049 Q9C0E2 (XPO4) N S 149 rs17320607 Benign
61050 Q9C0E2 (XPO4) T A 451 rs9552285 Benign
61051 Q9C0F0 (ASXL3) N S 954 rs2282632 Benign
61052 Q9C0F0 (ASXL3) M R 1415 rs16964887 Benign
61053 Q9C0F0 (ASXL3) V M 1652 rs17746949 Benign
61054 Q9C0F0 (ASXL3) M V 1708 rs7232237 Benign
61055 Q9C0F1 (CEP44) G S 147 rs4695918 Benign
61056 Q9C0G0 (ZNF407) N S 69 rs3794942 Benign
61057 Q9C0G0 (ZNF407) G R 512 rs7227263 Benign
61058 Q9C0G0 (ZNF407) N T 972 rs948615 Benign
61059 Q9C0G0 (ZNF407) S L 1259 rs34048449 Benign
61060 Q9C0G0 (ZNF407) A T 1913 rs17056248 Benign
61061 Q9C0I3 (CCSER1) G S 382 rs12647859 Benign
61062 Q9C0I9 (LRRC27) R C 195 rs2474329 Benign
61063 Q9C0J1 (B3GNT4) P A 6 rs7136356 Benign
61064 Q9C0J1 (B3GNT4) S T 83 rs1001178 Benign
61065 Q9C0J1 (B3GNT4) L P 87 rs35203505 Benign
61066 Q9C0J8 (WDR33) A S 33 rs11557686 Benign
61067 Q9C0J8 (WDR33) P R 711 rs12615078 Benign
61068 Q9C0J9 (BHLHE41) P R 384 rs121912617 Benign
61069 Q9C0K0 (BCL11B) P S 229 rs749837100 Benign
61070 Q9C0K0 (BCL11B) N K 441 rs750610248 Disease: Immunodefici ency 49 (IMD49) [MIM:617237]
61071 Q9C0K0 (BCL11B) N K 807 - Disease: Immunodefici ency 49 (IMD49) [MIM:617237]
61072 Q9C0K1 (SLC39A8) V M 33 rs373562040 Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721]
61073 Q9C0K1 (SLC39A8) G R 38 rs778210210 Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721]
61074 Q9C0K1 (SLC39A8) C S 113 rs1444255127 Disease: -
61075 Q9C0K1 (SLC39A8) G C 204 rs779241085 Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721]
61076 Q9C0K1 (SLC39A8) S T 335 rs864309660 Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721]
61077 Q9C0K1 (SLC39A8) I N 340 rs864309659 Disease: Congenital disorder of glycosylatio n 2N (CDG2N) [MIM:616721]
61078 Q9C0K1 (SLC39A8) A T 391 rs13107325 Benign
61079 Q9C0K7 (STRADB) P L 386 rs35636836 Benign
61080 Q9GZK3 (OR2B2) A P 183 rs9368537 Benign
61081 Q9GZK3 (OR2B2) Q R 234 rs34957169 Benign
61082 Q9GZK3 (OR2B2) A S 300 rs34788973 Benign
61083 Q9GZK4 (OR2H1) D N 63 rs61732185 Benign
61084 Q9GZK4 (OR2H1) V M 223 rs17184086 Benign
61085 Q9GZK6 (OR2J1) L I 14 rs3131087 Benign
61086 Q9GZK7 (OR11A1) Y C 121 rs16894898 Benign
61087 Q9GZK7 (OR11A1) A T 165 rs9257857 Benign
61088 Q9GZL7 (WDR12) M V 72 - Benign
61089 Q9GZL7 (WDR12) I V 75 rs35212307 Benign
61090 Q9GZL7 (WDR12) Y C 89 rs751438871 Benign
61091 Q9GZL7 (WDR12) E G 286 - Benign
61092 Q9GZM3 (POLR2J2) K N 28 rs62483491 Benign
61093 Q9GZM5 (YIPF3) A V 5 rs2231763 Benign
61094 Q9GZM6 (OR8D2) R H 122 rs2512219 Benign
61095 Q9GZM6 (OR8D2) P L 263 rs2466620 Benign
61096 Q9GZM7 (TINAGL1) A S 69 rs17497479 Benign
61097 Q9GZN0 (GPR88) V I 190 rs2809819 Benign
61098 Q9GZN0 (GPR88) Q H 318 rs3001995 Benign
61099 Q9GZN6 (SLC6A16) S R 108 rs35860981 Benign
61100 Q9GZN7 (ROGDI) E K 59 rs2305659 Benign
61101 Q9GZP0 (PDGFD) I V 190 rs35045740 Benign
61102 Q9GZP1 (NRSN2) L V 41 rs11556643 Benign
61103 Q9GZP1 (NRSN2) S C 65 rs17762763 Benign
61104 Q9GZP1 (NRSN2) E Q 160 rs35731713 Benign
61105 Q9GZP7 (VN1R1) I M 103 rs3746223 Benign
61106 Q9GZP7 (VN1R1) I T 139 rs374900565 Benign
61107 Q9GZP7 (VN1R1) S F 241 rs28649880 Benign
61108 Q9GZP7 (VN1R1) A D 269 rs61744949 Benign
61109 Q9GZQ3 (COMMD5) A T 6 rs1209879 Benign
61110 Q9GZQ3 (COMMD5) Q H 69 rs421427 Benign
61111 Q9GZQ4 (NMUR2) S T 298 rs4958535 Benign
61112 Q9GZQ4 (NMUR2) F L 315 rs1895245 Benign
61113 Q9GZQ4 (NMUR2) P L 383 rs4958532 Benign
61114 Q9GZQ4 (NMUR2) M V 388 rs4958531 Benign
61115 Q9GZQ4 (NMUR2) A T 395 rs1363422 Benign
61116 Q9GZQ6 (NPFFR1) I L 145 rs3812694 Benign
61117 Q9GZR1 (SENP6) T M 121 rs17414086 Benign
61118 Q9GZR1 (SENP6) E K 637 rs1061347 Benign
61119 Q9GZR1 (SENP6) R P 717 rs12195603 Benign
61120 Q9GZR1 (SENP6) A V 820 rs34045941 Benign
61121 Q9GZR1 (SENP6) Y C 1106 rs9250 Benign
61122 Q9GZR2 (REXO4) R K 141 rs6597630 Benign
61123 Q9GZR2 (REXO4) T A 283 rs2285487 Benign
61124 Q9GZR5 (ELOVL4) L F 168 rs587777598 Disease: Spinocerebel lar ataxia 34 (SCA34) [MIM:133190]
61125 Q9GZR5 (ELOVL4) I T 267 rs148594713 Benign
61126 Q9GZR5 (ELOVL4) M V 299 rs3812153 Benign
61127 Q9GZR7 (DDX24) E K 316 rs35413935 Benign
61128 Q9GZS0 (DNAI2) V I 495 rs28725418 Benign
61129 Q9GZS0 (DNAI2) A T 558 rs1979370 Benign
61130 Q9GZS1 (POLR1E) D H 192 rs7863488 Benign
61131 Q9GZS1 (POLR1E) V M 356 rs7867180 Benign
61132 Q9GZS1 (POLR1E) R K 383 rs10814571 Benign
61133 Q9GZS9 (CHST5) A T 311 rs7206332 Benign
61134 Q9GZS9 (CHST5) T M 318 rs3826107 Benign
61135 Q9GZT5 (WNT10A) E K 95 rs318240759 Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
61136 Q9GZT5 (WNT10A) R Q 128 rs121908121 Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
61137 Q9GZT5 (WNT10A) A T 131 rs372993798 Disease: Schopf- Schulz- Passarge syndrome (SSPS) [MIM:224750]
61138 Q9GZT5 (WNT10A) A V 131 - Disease: Odonto- onycho- dermal dysplasia (OODD) [MIM:257980]
61139 Q9GZT5 (WNT10A) F I 228 rs121908120 Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
61140 Q9GZT5 (WNT10A) G C 266 - Disease: Schopf- Schulz- Passarge syndrome (SSPS) [MIM:224750]
61141 Q9GZT5 (WNT10A) W C 277 rs1234227647 Disease: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]
61142 Q9GZT5 (WNT10A) P T 302 rs1057306 Benign
61143 Q9GZT5 (WNT10A) R C 360 - Disease: -
61144 Q9GZT6 (CCDC90B) F L 10 rs494791 Benign
61145 Q9GZT8 (NIF3L1) T I 324 rs7917 Benign
61146 Q9GZT9 (EGLN1) D E 4 rs186996510 Benign
61147 Q9GZT9 (EGLN1) C S 127 rs12097901 Benign
61148 Q9GZT9 (EGLN1) P R 317 rs80358193 Disease: Erythrocytos is, familial, 3 (ECYT3) [MIM:609820]
61149 Q9GZT9 (EGLN1) R H 371 rs119476044 Disease: Erythrocytos is, familial, 3 (ECYT3) [MIM:609820]
61150 Q9GZU0 (C6orf62) W C 116 rs34238213 Benign
61151 Q9GZU0 (C6orf62) R S 140 rs35050510 Benign
61152 Q9GZU1 (MCOLN1) L P 106 rs797044825 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61153 Q9GZU1 (MCOLN1) T P 232 rs767122713 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61154 Q9GZU1 (MCOLN1) D Y 362 rs121908372 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61155 Q9GZU1 (MCOLN1) R C 403 rs121908374 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61156 Q9GZU1 (MCOLN1) V L 446 rs754097561 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61157 Q9GZU1 (MCOLN1) L P 447 rs797044827 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61158 Q9GZU1 (MCOLN1) F L 465 rs797044828 Disease: Mucolipidosi s 4 (ML4) [MIM:252650]
61159 Q9GZU2 (PEG3) A T 235 rs2191432 Benign
61160 Q9GZU2 (PEG3) E G 624 rs36016896 Benign
61161 Q9GZU2 (PEG3) V L 839 rs7251798 Benign
61162 Q9GZU2 (PEG3) N S 947 rs35851866 Benign
61163 Q9GZU2 (PEG3) D G 983 rs10412932 Benign
61164 Q9GZU2 (PEG3) A V 1456 rs34831553 Benign
61165 Q9GZU2 (PEG3) R H 1576 rs34051133 Benign
61166 Q9GZU2 (PEG3) R L 1576 rs34051133 Benign
61167 Q9GZU5 (NYX) C S 31 rs62637020 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61168 Q9GZU5 (NYX) A P 143 rs62637023 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61169 Q9GZU5 (NYX) P L 151 rs62637024 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61170 Q9GZU5 (NYX) P R 175 rs62637025 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61171 Q9GZU5 (NYX) L P 184 rs62637026 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61172 Q9GZU5 (NYX) A K 187 rs62637027 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61173 Q9GZU5 (NYX) L Q 213 rs62637028 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61174 Q9GZU5 (NYX) N S 216 - Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61175 Q9GZU5 (NYX) L P 232 rs62637030 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61176 Q9GZU5 (NYX) N K 264 rs62637032 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61177 Q9GZU5 (NYX) L P 285 rs62637033 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61178 Q9GZU5 (NYX) F S 298 rs62637034 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61179 Q9GZU5 (NYX) L P 307 - Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61180 Q9GZU5 (NYX) N S 312 rs62637035 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61181 Q9GZU5 (NYX) L P 347 rs62637036 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61182 Q9GZU5 (NYX) G V 370 rs62637038 Disease: Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
61183 Q9GZU5 (NYX) A G 406 rs34169326 Benign
61184 Q9GZU7 (CTDSP1) A T 56 rs2227249 Benign
61185 Q9GZV1 (ANKRD2) A T 62 rs7094973 Benign
61186 Q9GZV3 (SLC5A7) D G 48 rs886039768 Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
61187 Q9GZV3 (SLC5A7) G E 65 rs886039765 Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
61188 Q9GZV3 (SLC5A7) I V 89 rs1013940 Benign
61189 Q9GZV3 (SLC5A7) P S 105 rs886039766 Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
61190 Q9GZV3 (SLC5A7) Y H 111 - Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
61191 Q9GZV3 (SLC5A7) R Q 361 rs147656110 Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
61192 Q9GZV3 (SLC5A7) R G 446 - Disease: Myasthenic syndrome, congenital, 20, presynaptic (CMS20) [MIM:617143]
61193 Q9GZV4 (EIF5A2) E D 42 rs776545602 Benign
61194 Q9GZV8 (PRDM14) K E 244 rs3750228 Benign
61195 Q9GZV9 (FGF23) S G 71 rs104894342 Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993]
61196 Q9GZV9 (FGF23) M T 96 rs104894343 Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993]
61197 Q9GZV9 (FGF23) S F 129 rs104894344 Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993]
61198 Q9GZV9 (FGF23) F L 157 rs772964687 Disease: Tumoral calcinosis, hyperphospha temic, familial, 2 (HFTC2) [MIM:617993]
61199 Q9GZV9 (FGF23) R Q 176 rs104894347 Disease: Hypophosphat emic rickets, autosomal dominant (ADHR) [MIM:193100]
61200 Q9GZV9 (FGF23) R Q 179 rs193922702 Disease: Hypophosphat emic rickets, autosomal dominant (ADHR) [MIM:193100]
61201 Q9GZV9 (FGF23) R W 179 rs28937882 Disease: Hypophosphat emic rickets, autosomal dominant (ADHR) [MIM:193100]
61202 Q9GZV9 (FGF23) P S 195 rs13312793 Benign
61203 Q9GZV9 (FGF23) T M 239 rs7955866 Benign
61204 Q9GZW5 (SCAND2P) P T 110 rs16974462 Benign
61205 Q9GZW5 (SCAND2P) A T 185 rs698620 Benign
61206 Q9GZW8 (MS4A7) E K 34 rs2233241 Benign
61207 Q9GZW8 (MS4A7) P H 112 rs2233249 Benign
61208 Q9GZW8 (MS4A7) S F 157 rs2233251 Benign
61209 Q9GZX3 (CHST6) L P 15 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61210 Q9GZX3 (CHST6) L R 22 rs68043642 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61211 Q9GZX3 (CHST6) P S 31 rs72547549 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61212 Q9GZX3 (CHST6) H Y 42 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61213 Q9GZX3 (CHST6) R C 50 rs28937877 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61214 Q9GZX3 (CHST6) S L 51 rs370335460 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61215 Q9GZX3 (CHST6) G D 52 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61216 Q9GZX3 (CHST6) S L 53 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61217 Q9GZX3 (CHST6) L P 59 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61218 Q9GZX3 (CHST6) N T 61 rs72547548 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61219 Q9GZX3 (CHST6) V L 66 rs72547547 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61220 Q9GZX3 (CHST6) Y H 68 rs775742450 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61221 Q9GZX3 (CHST6) M L 70 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61222 Q9GZX3 (CHST6) P S 72 rs377617168 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61223 Q9GZX3 (CHST6) V M 76 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61224 Q9GZX3 (CHST6) R H 93 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61225 Q9GZX3 (CHST6) R P 97 rs72547546 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61226 Q9GZX3 (CHST6) S W 98 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61227 Q9GZX3 (CHST6) C G 102 rs121917822 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61228 Q9GZX3 (CHST6) C Y 102 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61229 Q9GZX3 (CHST6) M V 104 rs1158093021 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61230 Q9GZX3 (CHST6) F S 107 rs72547545 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61231 Q9GZX3 (CHST6) Y C 110 rs72547544 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61232 Q9GZX3 (CHST6) F L 121 rs1265310255 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61233 Q9GZX3 (CHST6) Q P 122 rs758105699 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61234 Q9GZX3 (CHST6) R C 127 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61235 Q9GZX3 (CHST6) A V 128 rs72547543 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61236 Q9GZX3 (CHST6) S P 131 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61237 Q9GZX3 (CHST6) L P 152 rs142954809 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61238 Q9GZX3 (CHST6) R G 162 rs117435647 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61239 Q9GZX3 (CHST6) R P 166 rs72547542 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61240 Q9GZX3 (CHST6) K R 174 rs28937877 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61241 Q9GZX3 (CHST6) R G 177 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61242 Q9GZX3 (CHST6) R H 177 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61243 Q9GZX3 (CHST6) P R 186 rs376162109 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61244 Q9GZX3 (CHST6) V E 198 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61245 Q9GZX3 (CHST6) L R 200 rs28937879 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61246 Q9GZX3 (CHST6) R S 202 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61247 Q9GZX3 (CHST6) D E 203 rs28937878 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61248 Q9GZX3 (CHST6) P Q 204 rs759870075 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61249 Q9GZX3 (CHST6) R L 205 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61250 Q9GZX3 (CHST6) R Q 205 rs377706989 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61251 Q9GZX3 (CHST6) R W 205 rs750219546 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61252 Q9GZX3 (CHST6) A T 206 rs374493344 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61253 Q9GZX3 (CHST6) A V 206 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61254 Q9GZX3 (CHST6) S F 210 rs745571211 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61255 Q9GZX3 (CHST6) R Q 211 rs771397083 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61256 Q9GZX3 (CHST6) R W 211 rs202175444 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61257 Q9GZX3 (CHST6) A T 217 rs752785520 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61258 Q9GZX3 (CHST6) D E 221 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61259 Q9GZX3 (CHST6) D Y 221 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61260 Q9GZX3 (CHST6) H P 249 rs72547540 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61261 Q9GZX3 (CHST6) Y C 268 rs72547539 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61262 Q9GZX3 (CHST6) E K 274 rs72547538 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61263 Q9GZX3 (CHST6) L P 276 rs121917824 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61264 Q9GZX3 (CHST6) Y D 358 - Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61265 Q9GZX3 (CHST6) Y H 358 rs1384294258 Disease: Macular dystrophy, corneal (MCD) [MIM:217800]
61266 Q9GZX3 (CHST6) N D 369 rs35036798 Benign
61267 Q9GZX5 (ZNF350) M I 37 rs4987241 Benign
61268 Q9GZX5 (ZNF350) L P 66 rs2278420 Benign
61269 Q9GZX5 (ZNF350) I T 69 rs4987042 Benign
61270 Q9GZX5 (ZNF350) R C 132 rs28997584 Benign
61271 Q9GZX5 (ZNF350) E K 406 rs3764539 Benign
61272 Q9GZX5 (ZNF350) S P 472 rs4986771 Benign
61273 Q9GZX5 (ZNF350) R S 501 rs2278415 Benign
61274 Q9GZX5 (ZNF350) V I 524 rs4988337 Benign
61275 Q9GZX6 (IL22) S G 158 rs2227507 Benign
61276 Q9GZX7 (AICDA) F L 15 - Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61277 Q9GZX7 (AICDA) R W 24 rs104894324 Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61278 Q9GZX7 (AICDA) R C 25 rs1404944797 Benign
61279 Q9GZX7 (AICDA) Y H 31 - Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61280 Q9GZX7 (AICDA) W R 80 rs104894320 Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61281 Q9GZX7 (AICDA) L P 106 rs104894321 Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61282 Q9GZX7 (AICDA) H P 130 - Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61283 Q9GZX7 (AICDA) M V 139 rs104894322 Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61284 Q9GZX7 (AICDA) F S 151 rs104894327 Disease: Immunodefici ency with hyper-IgM 2 (HIGM2) [MIM:605258]
61285 Q9GZY1 (PBOV1) I T 73 rs6927706 Benign
61286 Q9GZY8 (MFF) S C 7 rs3211097 Benign
61287 Q9GZY8 (MFF) S I 7 rs3211098 Benign
61288 Q9GZZ0 (HOXD1) A T 296 rs6710142 Benign
61289 Q9GZZ6 (CHRNA10) E A 355 rs2231547 Benign
61290 Q9GZZ9 (UBA5) R H 55 rs774318611 Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132]
61291 Q9GZZ9 (UBA5) M V 57 rs532178791 Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132]
61292 Q9GZZ9 (UBA5) G E 168 rs886039761 Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132]
61293 Q9GZZ9 (UBA5) V M 260 rs886039759 Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132]
61294 Q9GZZ9 (UBA5) K E 310 rs886039762 Disease: Spinocerebel lar ataxia, autosomal recessive, 24 (SCAR24) [MIM:617133]
61295 Q9GZZ9 (UBA5) A T 371 rs114925667 Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132]
61296 Q9GZZ9 (UBA5) D Y 389 rs886039760 Disease: Epileptic encephalopat hy, early infantile, 44 (EIEE44) [MIM:617132]
61297 Q9H000 (MKRN2) R Q 388 rs5746260 Benign
61298 Q9H008 (LHPP) Q R 94 rs6597801 Benign
61299 Q9H009 (NACA2) V I 64 rs17531723 Benign
61300 Q9H013 (ADAM19) G S 4 rs11465228 Benign
61301 Q9H015 (SLC22A4) I T 306 rs272893 Benign
61302 Q9H015 (SLC22A4) G E 462 rs4646201 Benign
61303 Q9H015 (SLC22A4) L F 503 rs1050152 Benign
61304 Q9H019 (MTFR1L) P S 58 rs35448678 Benign
61305 Q9H040 (SPRTN) Y C 117 rs527236213 Disease: Ruijs-Aalfs syndrome (RJALS) [MIM:616200]
61306 Q9H040 (SPRTN) P L 296 rs2437150 Benign
61307 Q9H061 (TMEM126A) R H 64 rs11556797 Benign
61308 Q9H063 (MAF1) G R 236 rs11546144 Benign
61309 Q9H069 (DRC3) R Q 159 rs8072048 Benign
61310 Q9H069 (DRC3) R W 191 rs4584886 Benign
61311 Q9H069 (DRC3) A V 364 rs11656629 Benign
61312 Q9H078 (CLPB) T M 268 rs200032855 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61313 Q9H078 (CLPB) Y C 272 rs777313457 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61314 Q9H078 (CLPB) R T 295 rs7938203 Benign
61315 Q9H078 (CLPB) R G 408 rs144078282 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61316 Q9H078 (CLPB) M I 411 rs786205137 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61317 Q9H078 (CLPB) C R 486 rs886041118 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61318 Q9H078 (CLPB) E K 501 rs748915609 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61319 Q9H078 (CLPB) Y C 567 rs150857620 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61320 Q9H078 (CLPB) A V 591 rs748010262 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61321 Q9H078 (CLPB) Y C 617 rs786205138 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61322 Q9H078 (CLPB) G V 646 rs759500860 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61323 Q9H078 (CLPB) I N 682 rs886041120 Disease: 3-methylglut aconic aciduria 7 (MGCA7) [MIM:616271]
61324 Q9H081 (MIS12) M V 21 rs16954781 Benign
61325 Q9H082 (RAB33B) K Q 46 rs587776958 Disease: Smith-McCort dysplasia 2 (SMC2) [MIM:615222]
61326 Q9H082 (RAB33B) N K 148 rs886044716 Disease: Smith-McCort dysplasia 2 (SMC2) [MIM:615222]
61327 Q9H089 (LSG1) L P 92 rs34423045 Benign
61328 Q9H089 (LSG1) K E 267 rs1675953 Benign
61329 Q9H091 (ZMYND15) R H 401 rs35005394 Benign
61330 Q9H093 (NUAK2) T S 309 rs55745939 Benign
61331 Q9H093 (NUAK2) R L 341 rs35208615 Benign
61332 Q9H093 (NUAK2) A V 516 rs35070935 Benign
61333 Q9H094 (NBPF3) Y C 114 rs1827293 Benign
61334 Q9H094 (NBPF3) R Q 198 rs16825377 Benign
61335 Q9H094 (NBPF3) D E 444 rs12043777 Benign
61336 Q9H094 (NBPF3) L V 459 rs12034222 Benign
61337 Q9H095 (IQCG) A D 112 rs9880989 Benign
61338 Q9H0A0 (NAT10) Y H 461 rs2957516 Benign
61339 Q9H0A0 (NAT10) A T 983 rs36006049 Benign
61340 Q9H0A6 (RNF32) R Q 288 rs2302148 Benign
61341 Q9H0A6 (RNF32) H Q 291 rs2302147 Benign
61342 Q9H0A6 (RNF32) R C 307 rs2302146 Benign
61343 Q9H0A9 (SPATC1L) P L 113 rs884134 Benign
61344 Q9H0A9 (SPATC1L) S N 298 rs14378 Benign
61345 Q9H0B3 (IQCN) L P 44 rs1469023 Benign
61346 Q9H0B3 (IQCN) A V 50 rs3810431 Benign
61347 Q9H0B3 (IQCN) C R 197 rs12609001 Benign
61348 Q9H0B3 (IQCN) L V 235 rs8103906 Benign
61349 Q9H0B3 (IQCN) S T 285 rs8104533 Benign
61350 Q9H0B3 (IQCN) M T 359 rs3746186 Benign
61351 Q9H0B3 (IQCN) T A 524 rs12462974 Benign
61352 Q9H0B3 (IQCN) T P 610 rs2277922 Benign
61353 Q9H0B3 (IQCN) A V 614 rs16982285 Benign
61354 Q9H0B3 (IQCN) Y F 648 rs8110972 Benign
61355 Q9H0B3 (IQCN) P R 823 rs12608777 Benign
61356 Q9H0B3 (IQCN) P L 835 rs2277921 Benign
61357 Q9H0B3 (IQCN) P H 908 rs999813 Benign
61358 Q9H0B6 (KLC2) P S 517 rs2276036 Benign
61359 Q9H0B8 (CRISPLD2) S G 105 rs12051468 Benign
61360 Q9H0B8 (CRISPLD2) D G 137 rs1297496215 Benign
61361 Q9H0B8 (CRISPLD2) T S 322 rs721005 Benign
61362 Q9H0C1 (ZMYND12) F L 316 rs1034268 Benign
61363 Q9H0C2 (SLC25A31) K E 303 - Benign
61364 Q9H0C3 (TMEM117) R H 90 rs1948516 Benign
61365 Q9H0C8 (ILKAP) I M 66 rs34371548 Benign
61366 Q9H0D2 (ZNF541) P S 486 rs3810320 Benign
61367 Q9H0D2 (ZNF541) K E 791 rs34984302 Benign
61368 Q9H0D2 (ZNF541) T S 795 rs3826835 Benign
61369 Q9H0D6 (XRN2) R M 743 rs6137324 Benign
61370 Q9H0D6 (XRN2) R C 925 rs6047420 Benign
61371 Q9H0E2 (TOLLIP) D N 161 rs1037270334 Benign
61372 Q9H0E2 (TOLLIP) A S 222 rs5744015 Benign
61373 Q9H0E7 (USP44) T A 91 rs3812813 Benign
61374 Q9H0E7 (USP44) E Q 316 rs7305024 Benign
61375 Q9H0E7 (USP44) R G 348 rs7135642 Benign
61376 Q9H0E9 (BRD8) T M 490 rs11750814 Benign
61377 Q9H0E9 (BRD8) L P 896 rs6883021 Benign
61378 Q9H0E9 (BRD8) Q R 1198 rs412051 Benign
61379 Q9H0F5 (RNF38) A T 206 rs183475137 Benign
61380 Q9H0F6 (SHARPIN) S T 282 rs11541804 Benign
61381 Q9H0F6 (SHARPIN) P S 294 rs34674752 Benign
61382 Q9H0F6 (SHARPIN) P R 311 rs35844464 Benign
61383 Q9H0F7 (ARL6) T M 31 rs104893680 Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
61384 Q9H0F7 (ARL6) T R 31 rs104893680 Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
61385 Q9H0F7 (ARL6) A V 89 rs587777805 Disease: Retinitis pigmentosa 55 (RP55) [MIM:613575]
61386 Q9H0F7 (ARL6) I T 94 rs771054395 Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
61387 Q9H0F7 (ARL6) G A 169 rs104893679 Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
61388 Q9H0F7 (ARL6) L W 170 rs104893681 Disease: Bardet-Biedl syndrome 3 (BBS3) [MIM:600151]
61389 Q9H0G5 (NSRP1) K T 86 rs11544945 Benign
61390 Q9H0H0 (INTS2) N H 768 rs606072 Benign
61391 Q9H0H3 (KLHL25) V I 250 rs35582838 Benign
61392 Q9H0H3 (KLHL25) M L 257 rs36031133 Benign
61393 Q9H0I3 (CCDC113) D E 4 rs8043587 Benign
61394 Q9H0I3 (CCDC113) S T 6 rs8043590 Benign
61395 Q9H0I9 (TKTL2) R Q 442 rs3811750 Benign
61396 Q9H0I9 (TKTL2) Q H 590 rs11735477 Benign
61397 Q9H0J4 (QRICH2) L S 202 rs6501880 Benign
61398 Q9H0J4 (QRICH2) I T 630 rs6501878 Benign
61399 Q9H0J4 (QRICH2) I V 630 rs6501879 Benign
61400 Q9H0J4 (QRICH2) V D 681 rs6501874 Benign
61401 Q9H0J4 (QRICH2) H Y 906 rs2279054 Benign
61402 Q9H0J4 (QRICH2) H R 974 rs2279053 Benign
61403 Q9H0J4 (QRICH2) E Q 1036 rs2279052 Benign
61404 Q9H0J9 (PARP12) V I 293 rs34111764 Benign
61405 Q9H0J9 (PARP12) V M 463 rs35456446 Benign
61406 Q9H0J9 (PARP12) A V 620 rs17161356 Benign
61407 Q9H0K1 (SIK2) T I 458 rs35789057 Benign
61408 Q9H0K1 (SIK2) R Q 809 rs34223841 Benign
61409 Q9H0K1 (SIK2) P L 825 rs55889697 Benign
61410 Q9H0K1 (SIK2) P L 828 rs45520245 Benign
61411 Q9H0K1 (SIK2) P S 829 rs45586732 Benign
61412 Q9H0K4 (RSPH6A) A V 50 rs12459916 Benign
61413 Q9H0K6 (PUS7L) I M 92 rs33999797 Benign
61414 Q9H0K6 (PUS7L) K E 264 rs1057190 Benign
61415 Q9H0K6 (PUS7L) I V 343 rs34668377 Benign
61416 Q9H0M4 (ZCWPW1) T A 153 rs6465770 Benign
61417 Q9H0M4 (ZCWPW1) E K 365 rs6970350 Benign
61418 Q9H0M5 (ZNF700) E G 269 rs12327617 Benign
61419 Q9H0M5 (ZNF700) L V 321 rs17001730 Benign
61420 Q9H0N0 (RAB6C) A T 159 rs4662674 Benign
61421 Q9H0P0 (NT5C3A) R G 95 rs766577643 Disease: P5N deficiency (P5ND) [MIM:266120]
61422 Q9H0P0 (NT5C3A) C R 113 - Disease: P5N deficiency (P5ND) [MIM:266120]
61423 Q9H0P0 (NT5C3A) D V 137 rs104894025 Disease: P5N deficiency (P5ND) [MIM:266120]
61424 Q9H0P0 (NT5C3A) L P 181 - Disease: P5N deficiency (P5ND) [MIM:266120]
61425 Q9H0P0 (NT5C3A) G R 207 - Disease: P5N deficiency (P5ND) [MIM:266120]
61426 Q9H0P0 (NT5C3A) N S 229 rs104894028 Disease: P5N deficiency (P5ND) [MIM:266120]
61427 Q9H0P0 (NT5C3A) G R 280 rs104894029 Disease: P5N deficiency (P5ND) [MIM:266120]
61428 Q9H0P0 (NT5C3A) I T 297 - Disease: P5N deficiency (P5ND) [MIM:266120]
61429 Q9H0R1 (AP5M1) G R 226 rs10137359 Benign
61430 Q9H0R1 (AP5M1) E D 379 rs10140245 Benign
61431 Q9H0R4 (HDHD2) R Q 85 rs7230131 Benign
61432 Q9H0R5 (GBP3) R Q 221 rs4656078 Benign
61433 Q9H0R5 (GBP3) R W 225 rs4656077 Benign
61434 Q9H0R5 (GBP3) T S 347 rs3188433 Benign
61435 Q9H0R5 (GBP3) V M 469 rs10493821 Benign
61436 Q9H0R5 (GBP3) C R 491 rs17433780 Benign
61437 Q9H0R5 (GBP3) V A 558 rs11808228 Benign
61438 Q9H0R6 (QRSL1) A V 11 rs36016898 Benign
61439 Q9H0R6 (QRSL1) G E 117 - Disease: -
61440 Q9H0R6 (QRSL1) G V 133 - Disease: -
61441 Q9H0R6 (QRSL1) N S 263 rs34221917 Benign
61442 Q9H0T7 (RAB17) V A 19 rs3751112 Benign
61443 Q9H0T7 (RAB17) S G 184 rs34311889 Benign
61444 Q9H0T7 (RAB17) L P 191 rs2280289 Benign
61445 Q9H0U3 (MAGT1) K N 324 - Disease: Congenital disorder of glycosylatio n 1CC (CDG1CC) [MIM:301031]
61446 Q9H0U6 (MRPL18) R Q 6 rs1128670 Benign
61447 Q9H0U9 (TSPYL1) P S 62 rs3828743 Benign
61448 Q9H0U9 (TSPYL1) A P 74 rs3749895 Benign
61449 Q9H0U9 (TSPYL1) A T 181 rs3749894 Benign
61450 Q9H0V9 (LMAN2L) R Q 53 rs869320632 Disease: Mental retardation, autosomal recessive 52 (MRT52) [MIM:616887]
61451 Q9H0W5 (CCDC8) G R 296 rs11880658 Benign
61452 Q9H0W5 (CCDC8) H Y 383 rs34186470 Benign
61453 Q9H0W5 (CCDC8) K N 507 rs2279517 Benign
61454 Q9H0W7 (THAP2) T M 170 rs17110155 Benign
61455 Q9H0X9 (OSBPL5) T I 90 rs6578323 Benign
61456 Q9H0X9 (OSBPL5) A T 774 rs2277301 Benign
61457 Q9H0Y0 (ATG10) S P 62 rs3734114 Benign
61458 Q9H0Y0 (ATG10) T M 212 rs1864183 Benign
61459 Q9H0Y0 (ATG10) P H 220 rs1864182 Benign
61460 Q9H0Z9 (RBM38) A V 178 rs1065288 Benign
61461 Q9H0Z9 (RBM38) A D 200 rs1065289 Benign
61462 Q9H0Z9 (RBM38) P H 212 rs1065290 Benign
61463 Q9H0Z9 (RBM38) V L 226 rs16980970 Benign
61464 Q9H106 (SIRPD) N D 55 rs2249317 Benign
61465 Q9H114 (CSTL1) T A 59 rs7361799 Benign
61466 Q9H114 (CSTL1) Y F 62 rs16985357 Benign
61467 Q9H114 (CSTL1) R K 66 rs17757442 Benign
61468 Q9H114 (CSTL1) W R 88 rs3746736 Benign
61469 Q9H114 (CSTL1) T M 96 rs3746737 Benign
61470 Q9H115 (NAPB) A T 61 rs6036399 Benign
61471 Q9H116 (GZF1) N S 190 rs3810574 Benign
61472 Q9H116 (GZF1) Q L 275 rs6048760 Benign
61473 Q9H116 (GZF1) Q P 275 rs6048760 Benign
61474 Q9H116 (GZF1) Q R 275 rs6048760 Benign
61475 Q9H116 (GZF1) K N 318 rs6114068 Benign
61476 Q9H116 (GZF1) D N 667 rs6048766 Benign
61477 Q9H147 (DNTTIP1) A T 183 rs408911 Benign
61478 Q9H156 (SLITRK2) S P 601 rs2295336 Benign
61479 Q9H158 (PCDHAC1) L V 498 rs246074 Benign
61480 Q9H161 (ALX4) V F 7 rs281865153 Disease: Craniosynost osis 5 (CRS5) [MIM:615529]
61481 Q9H161 (ALX4) R T 35 rs3824915 Benign
61482 Q9H161 (ALX4) P S 102 rs12421995 Benign
61483 Q9H161 (ALX4) K E 211 rs281865154 Disease: Craniosynost osis 5 (CRS5) [MIM:615529]
61484 Q9H161 (ALX4) R Q 218 rs104894193 Disease: Parietal foramina 2 (PFM2) [MIM:609597]
61485 Q9H161 (ALX4) R T 257 rs3824915 Benign
61486 Q9H161 (ALX4) R P 272 rs104894196 Disease: Parietal foramina 2 (PFM2) [MIM:609597]
61487 Q9H161 (ALX4) P L 306 rs149897209 Benign
61488 Q9H165 (BCL11A) T P 47 rs886037864 Disease: Intellectual developmenta l disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]
61489 Q9H165 (BCL11A) C F 48 rs886037865 Disease: Intellectual developmenta l disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]
61490 Q9H165 (BCL11A) H Q 66 rs886037866 Disease: Intellectual developmenta l disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101]
61491 Q9H171 (ZBP1) R I 17 rs35813125 Benign
61492 Q9H171 (ZBP1) K R 53 rs35895307 Benign
61493 Q9H171 (ZBP1) G R 70 rs34964609 Benign
61494 Q9H171 (ZBP1) E K 88 rs2073145 Benign
61495 Q9H171 (ZBP1) D H 154 rs16981187 Benign
61496 Q9H171 (ZBP1) R H 166 rs34478944 Benign
61497 Q9H171 (ZBP1) Q R 258 rs2865394 Benign
61498 Q9H171 (ZBP1) A V 332 rs41275648 Benign
61499 Q9H172 (ABCG4) P L 352 rs35060365 Benign
61500 Q9H173 (SIL1) Q R 80 rs35581768 Benign
61501 Q9H175 (CSRNP2) T M 436 rs11542510 Benign
61502 Q9H190 (SDCBP2) V M 182 rs2273959 Benign
61503 Q9H190 (SDCBP2) R C 223 rs1048621 Benign
61504 Q9H190 (SDCBP2) G R 242 rs4814111 Benign
61505 Q9H195 (MUC3B) A V 1034 - Benign
61506 Q9H195 (MUC3B) H Y 1213 - Benign
61507 Q9H1B5 (XYLT2) D N 56 rs113835371 Benign
61508 Q9H1B5 (XYLT2) G R 60 rs739990 Benign
61509 Q9H1B5 (XYLT2) P L 115 rs748114111 Benign
61510 Q9H1B5 (XYLT2) R T 305 rs12451299 Benign
61511 Q9H1B5 (XYLT2) P L 418 rs72832454 Benign
61512 Q9H1B5 (XYLT2) T R 801 rs6504649 Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800]
61513 Q9H1B7 (IRF2BPL) K N 418 - Disease: Neurodevelop mental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088]
61514 Q9H1C3 (GLT8D2) A T 37 rs17035120 Benign
61515 Q9H1C4 (UNC93B1) Y C 436 rs3175471 Benign
61516 Q9H1C7 (CYSTM1) C S 90 rs17852164 Benign
61517 Q9H1D0 (TRPV6) A S 18 - Benign
61518 Q9H1D0 (TRPV6) C R 197 rs4987657 Benign
61519 Q9H1D0 (TRPV6) C Y 212 - Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188]
61520 Q9H1D0 (TRPV6) I T 223 - Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188]
61521 Q9H1D0 (TRPV6) R Q 399 rs4987665 Benign
61522 Q9H1D0 (TRPV6) M V 418 rs4987667 Benign
61523 Q9H1D0 (TRPV6) R Q 425 - Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188]
61524 Q9H1D0 (TRPV6) G R 428 - Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188]
61525 Q9H1D0 (TRPV6) G E 451 - Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188]
61526 Q9H1D0 (TRPV6) R W 483 - Disease: Hyperparathy roidism, transient neonatal (HRPTTN) [MIM:618188]
61527 Q9H1D0 (TRPV6) M T 721 rs4987682 Benign
61528 Q9H1E1 (RNASE7) A P 103 rs1263872 Benign
61529 Q9H1E1 (RNASE7) H Y 116 rs1243469 Benign
61530 Q9H1E3 (NUCKS1) E G 119 rs3207505 Benign
61531 Q9H1E3 (NUCKS1) L P 137 rs17355035 Benign
61532 Q9H1E5 (TMX4) Y C 215 rs1135711 Benign
61533 Q9H1E5 (TMX4) G R 303 rs2076015 Benign
61534 Q9H1H1 (GTSF1L) L V 56 rs17826038 Benign
61535 Q9H1H9 (KIF13A) M V 1415 rs17689215 Benign
61536 Q9H1H9 (KIF13A) F S 1600 rs12211658 Benign
61537 Q9H1I8 (ASCC2) R C 96 rs1894473 Benign
61538 Q9H1I8 (ASCC2) V I 123 rs11549795 Benign
61539 Q9H1I8 (ASCC2) D H 407 rs28265 Benign
61540 Q9H1I8 (ASCC2) P S 423 rs36571 Benign
61541 Q9H1I8 (ASCC2) R Q 509 rs4823054 Benign
61542 Q9H1I8 (ASCC2) D G 546 rs34833047 Benign
61543 Q9H1I8 (ASCC2) E K 588 rs34062345 Benign
61544 Q9H1I8 (ASCC2) R L 639 rs6006259 Benign
61545 Q9H1J1 (UPF3A) R K 64 rs3752105 Benign
61546 Q9H1K0 (RBSN) L P 591 rs9868848 Benign
61547 Q9H1K0 (RBSN) T A 641 rs9851219 Benign
61548 Q9H1K0 (RBSN) M I 722 rs9830744 Benign
61549 Q9H1K1 (ISCU) A V 12 rs2287555 Benign
61550 Q9H1L0 (MIR1-1HG) V A 27 rs6062251 Benign
61551 Q9H1M0 (NUP62CL) F L 54 rs16987290 Benign
61552 Q9H1M0 (NUP62CL) I T 177 rs1298577 Benign
61553 Q9H1M3 (DEFB129) T S 149 rs1053783 Benign
61554 Q9H1M4 (DEFB127) G R 31 rs12624954 Benign
61555 Q9H1M4 (DEFB127) R S 71 rs16995685 Benign
61556 Q9H1P6 (C20orf85) R H 26 rs16984945 Benign
61557 Q9H1P6 (C20orf85) R Q 34 rs45576936 Benign
61558 Q9H1P6 (C20orf85) I V 99 rs17440813 Benign
61559 Q9H1Q7 (PCED1A) Q H 22 rs2274670 Benign
61560 Q9H1R3 (MYLK2) A V 87 rs121908107 Disease: Cardiomyopat hy, familial hypertrophic (CMH) [MIM:192600]
61561 Q9H1R3 (MYLK2) A E 95 rs121908108 Disease: Cardiomyopat hy, familial hypertrophic (CMH) [MIM:192600]
61562 Q9H1R3 (MYLK2) G V 142 rs56385445 Benign
61563 Q9H1R3 (MYLK2) P A 144 rs34396614 Benign
61564 Q9H1R3 (MYLK2) K N 324 rs34146416 Benign
61565 Q9H1V8 (SLC6A17) A T 57 rs12737742 Benign
61566 Q9H1V8 (SLC6A17) G R 162 rs775085213 Disease: Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269]
61567 Q9H1V8 (SLC6A17) P R 633 rs375380880 Disease: Mental retardation, autosomal recessive 48 (MRT48) [MIM:616269]
61568 Q9H1X1 (RSPH9) V I 261 rs16896629 Benign
61569 Q9H1Y0 (ATG5) E D 122 rs1131692265 Disease: Spinocerebel lar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584]
61570 Q9H1Y3 (OPN3) A V 167 rs12072790 Benign
61571 Q9H1Y3 (OPN3) V I 183 rs2273712 Benign
61572 Q9H1Z4 (WDR13) H R 325 rs235842 Benign
61573 Q9H1Z8 (ECRG4) A T 52 rs10187689 Benign
61574 Q9H1Z9 (TSPAN10) R H 187 rs34896443 Benign
61575 Q9H1Z9 (TSPAN10) Y H 218 rs34379910 Benign
61576 Q9H201 (EPN3) P T 544 rs4794159 Benign
61577 Q9H205 (OR2AG1) V L 187 rs2659880 Benign
61578 Q9H205 (OR2AG1) R G 299 rs2659879 Benign
61579 Q9H205 (OR2AG1) R W 299 rs2659879 Benign
61580 Q9H207 (OR10A5) K M 41 rs7949377 Benign
61581 Q9H208 (OR10A2) H R 43 rs3930075 Benign
61582 Q9H208 (OR10A2) A T 134 rs2741764 Benign
61583 Q9H208 (OR10A2) H R 207 rs10839631 Benign
61584 Q9H208 (OR10A2) I T 240 rs10839632 Benign
61585 Q9H208 (OR10A2) K T 258 rs7926083 Benign
61586 Q9H209 (OR10A4) L P 206 rs2595453 Benign
61587 Q9H209 (OR10A4) R H 221 rs7938371 Benign
61588 Q9H209 (OR10A4) L F 246 rs16919049 Benign
61589 Q9H209 (OR10A4) R Q 262 rs10839635 Benign
61590 Q9H210 (OR2D2) H Y 84 rs57896484 Benign
61591 Q9H210 (OR2D2) S P 148 rs1965209 Benign
61592 Q9H210 (OR2D2) I M 163 rs1965207 Benign
61593 Q9H210 (OR2D2) I T 163 rs1965208 Benign
61594 Q9H210 (OR2D2) M T 202 rs2741804 Benign
61595 Q9H210 (OR2D2) R G 220 rs60116285 Benign
61596 Q9H211 (CDT1) A T 66 rs387906918 Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
61597 Q9H211 (CDT1) Q H 117 rs779871947 Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
61598 Q9H211 (CDT1) A V 135 rs3218725 Benign
61599 Q9H211 (CDT1) R C 172 rs3218727 Benign
61600 Q9H211 (CDT1) C R 234 rs507329 Benign
61601 Q9H211 (CDT1) T A 262 rs480727 Benign
61602 Q9H211 (CDT1) R W 453 rs200672589 Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
61603 Q9H211 (CDT1) E A 456 rs3218729 Benign
61604 Q9H211 (CDT1) R Q 462 rs387906917 Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
61605 Q9H211 (CDT1) E K 468 rs200652608 Disease: Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
61606 Q9H211 (CDT1) A V 537 rs3218721 Benign
61607 Q9H221 (ABCG8) D H 19 rs11887534 Benign
61608 Q9H221 (ABCG8) Y C 54 rs4148211 Benign
61609 Q9H221 (ABCG8) R H 184 rs766212636 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61610 Q9H221 (ABCG8) V M 210 rs9282574 Benign
61611 Q9H221 (ABCG8) P T 231 rs137852993 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61612 Q9H221 (ABCG8) A V 259 rs35518570 Benign
61613 Q9H221 (ABCG8) R Q 263 rs137852990 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61614 Q9H221 (ABCG8) T K 400 rs4148217 Benign
61615 Q9H221 (ABCG8) R H 405 rs1177309800 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61616 Q9H221 (ABCG8) L P 501 rs1233989408 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61617 Q9H221 (ABCG8) R S 543 rs201690654 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61618 Q9H221 (ABCG8) L P 572 rs769576789 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61619 Q9H221 (ABCG8) G E 574 rs1325979386 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61620 Q9H221 (ABCG8) G R 574 rs137852988 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61621 Q9H221 (ABCG8) G R 575 - Benign
61622 Q9H221 (ABCG8) L R 596 rs137852992 Disease: Sitosterolem ia 1 (STSL1) [MIM:210250]
61623 Q9H221 (ABCG8) V A 632 rs6544718 Benign
61624 Q9H221 (ABCG8) Y F 641 rs145125968 Benign
61625 Q9H221 (ABCG8) M V 655 rs9282573 Benign
61626 Q9H222 (ABCG5) R C 50 rs6756629 Benign
61627 Q9H222 (ABCG5) E Q 146 rs758551848 Disease: Sitosterolem ia 2 (STSL2) [MIM:618666]
61628 Q9H222 (ABCG5) R H 389 rs119480069 Disease: Sitosterolem ia 2 (STSL2) [MIM:618666]
61629 Q9H222 (ABCG5) R H 419 rs119479067 Disease: Sitosterolem ia 2 (STSL2) [MIM:618666]
61630 Q9H222 (ABCG5) R P 419 rs119479067 Disease: Sitosterolem ia 2 (STSL2) [MIM:618666]
61631 Q9H222 (ABCG5) N K 437 rs575266356 Disease: Sitosterolem ia 2 (STSL2) [MIM:618666]
61632 Q9H222 (ABCG5) T S 517 rs17031672 Benign
61633 Q9H222 (ABCG5) I V 523 rs140899003 Benign
61634 Q9H222 (ABCG5) R S 550 - Disease: Sitosterolem ia 2 (STSL2) [MIM:618666]
61635 Q9H222 (ABCG5) C Y 600 rs779109455 Benign
61636 Q9H222 (ABCG5) Q E 604 rs6720173 Benign
61637 Q9H222 (ABCG5) M V 622 rs140374206 Benign
61638 Q9H223 (EHD4) V I 154 rs11549015 Benign
61639 Q9H227 (GBA3) D N 106 - Benign
61640 Q9H227 (GBA3) M I 172 rs36090352 Benign
61641 Q9H227 (GBA3) R P 213 rs17612341 Benign
61642 Q9H227 (GBA3) C R 354 rs16873108 Benign
61643 Q9H228 (S1PR5) L Q 318 rs35483143 Benign
61644 Q9H237 (PORCN) G R 60 rs267606973 Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61645 Q9H237 (PORCN) S F 136 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61646 Q9H237 (PORCN) G R 168 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61647 Q9H237 (PORCN) H Y 252 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61648 Q9H237 (PORCN) V E 258 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61649 Q9H237 (PORCN) S L 297 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61650 Q9H237 (PORCN) L R 331 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61651 Q9H237 (PORCN) H L 341 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61652 Q9H237 (PORCN) E V 361 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61653 Q9H237 (PORCN) R G 365 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61654 Q9H237 (PORCN) R Q 365 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61655 Q9H237 (PORCN) A P 374 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61656 Q9H237 (PORCN) C R 385 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61657 Q9H237 (PORCN) C Y 385 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61658 Q9H237 (PORCN) W R 439 - Disease: Focal dermal hypoplasia (FODH) [MIM:305600]
61659 Q9H244 (P2RY12) H Q 187 - Disease: Bleeding disorder, platelet- type 8 (BDPLT8) [MIM:609821]
61660 Q9H244 (P2RY12) R Q 256 rs121917885 Disease: Bleeding disorder, platelet- type 8 (BDPLT8) [MIM:609821]
61661 Q9H244 (P2RY12) R W 265 rs121917886 Disease: Bleeding disorder, platelet- type 8 (BDPLT8) [MIM:609821]
61662 Q9H244 (P2RY12) E G 330 rs16846673 Benign
61663 Q9H251 (CDH23) R C 3 rs7902757 Benign
61664 Q9H251 (CDH23) D G 124 rs751192273 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61665 Q9H251 (CDH23) D N 160 rs1057519500 Benign
61666 Q9H251 (CDH23) V I 187 rs369624952 Benign
61667 Q9H251 (CDH23) E Q 192 rs199514829 Benign
61668 Q9H251 (CDH23) P L 240 rs121908354 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61669 Q9H251 (CDH23) E K 247 - Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61670 Q9H251 (CDH23) R Q 301 rs121908355 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61671 Q9H251 (CDH23) N S 342 rs1451062499 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61672 Q9H251 (CDH23) A S 361 - Benign
61673 Q9H251 (CDH23) A T 366 rs143282422 Benign
61674 Q9H251 (CDH23) V M 424 rs2305207 Benign
61675 Q9H251 (CDH23) D N 428 rs188376296 Benign
61676 Q9H251 (CDH23) N S 452 rs375646885 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61677 Q9H251 (CDH23) L Q 480 rs767928788 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61678 Q9H251 (CDH23) A P 484 - Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61679 Q9H251 (CDH23) G A 490 rs1227049 Benign
61680 Q9H251 (CDH23) S N 496 rs10999947 Benign
61681 Q9H251 (CDH23) R Q 582 rs200263980 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61682 Q9H251 (CDH23) V I 746 rs550384315 Benign
61683 Q9H251 (CDH23) H Y 755 rs181255269 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61684 Q9H251 (CDH23) V I 803 - Benign
61685 Q9H251 (CDH23) S G 944 rs188098974 Benign
61686 Q9H251 (CDH23) E K 956 rs756147087 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61687 Q9H251 (CDH23) E K 960 rs111033458 Benign
61688 Q9H251 (CDH23) R Q 964 rs376560330 Benign
61689 Q9H251 (CDH23) D N 990 rs771766431 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61690 Q9H251 (CDH23) R H 1010 rs370107953 Benign
61691 Q9H251 (CDH23) R W 1060 rs201536811 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61692 Q9H251 (CDH23) V I 1090 rs368487578 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61693 Q9H251 (CDH23) N S 1098 rs41281310 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61694 Q9H251 (CDH23) G S 1118 rs562052236 Benign
61695 Q9H251 (CDH23) G D 1186 - Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61696 Q9H251 (CDH23) P R 1206 - Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61697 Q9H251 (CDH23) T A 1209 rs41281314 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61698 Q9H251 (CDH23) A T 1222 rs41281316 Benign
61699 Q9H251 (CDH23) R Q 1236 rs186990940 Benign
61700 Q9H251 (CDH23) N S 1282 rs149073355 Benign
61701 Q9H251 (CDH23) V A 1335 rs1364542092 Benign
61702 Q9H251 (CDH23) D N 1341 rs121908351 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61703 Q9H251 (CDH23) R C 1349 rs41281318 Benign
61704 Q9H251 (CDH23) N D 1351 rs1227065 Benign
61705 Q9H251 (CDH23) T M 1368 rs762247872 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61706 Q9H251 (CDH23) R L 1379 - Disease: Pituitary adenoma 5, multiple types (PITA5) [MIM:617540]
61707 Q9H251 (CDH23) S I 1415 - Benign
61708 Q9H251 (CDH23) R W 1417 rs756231829 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61709 Q9H251 (CDH23) R Q 1437 rs56181447 Benign
61710 Q9H251 (CDH23) A G 1443 - Benign
61711 Q9H251 (CDH23) Q H 1496 rs121908347 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61712 Q9H251 (CDH23) R Q 1507 rs373480195 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61713 Q9H251 (CDH23) I M 1520 - Benign
61714 Q9H251 (CDH23) M T 1574 - Benign
61715 Q9H251 (CDH23) A T 1575 rs1227051 Benign
61716 Q9H251 (CDH23) A P 1586 rs573737471 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61717 Q9H251 (CDH23) R W 1588 rs137937502 Benign
61718 Q9H251 (CDH23) E K 1595 rs778204574 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61719 Q9H251 (CDH23) V M 1620 rs41281330 Benign
61720 Q9H251 (CDH23) D A 1626 rs1554871816 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61721 Q9H251 (CDH23) T S 1671 rs749678546 Benign
61722 Q9H251 (CDH23) V I 1675 rs17712523 Benign
61723 Q9H251 (CDH23) V I 1711 rs181611778 Benign
61724 Q9H251 (CDH23) Q P 1716 - Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61725 Q9H251 (CDH23) R Q 1746 rs111033270 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61726 Q9H251 (CDH23) P L 1788 rs564555435 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61727 Q9H251 (CDH23) R Q 1804 rs3802711 Benign
61728 Q9H251 (CDH23) D E 1806 rs74145660 Benign
61729 Q9H251 (CDH23) V M 1807 rs143993990 Benign
61730 Q9H251 (CDH23) D N 1846 rs746323558 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61731 Q9H251 (CDH23) S N 1876 rs983665281 Benign
61732 Q9H251 (CDH23) T I 1887 rs397517340 Benign
61733 Q9H251 (CDH23) F S 1888 rs121908352 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61734 Q9H251 (CDH23) V I 1908 rs368828743 Benign
61735 Q9H251 (CDH23) R W 1912 rs397517344 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61736 Q9H251 (CDH23) D N 1930 - Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61737 Q9H251 (CDH23) T S 1999 rs11592462 Benign
61738 Q9H251 (CDH23) G S 2017 rs183431253 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61739 Q9H251 (CDH23) R W 2029 rs750880909 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61740 Q9H251 (CDH23) E K 2044 rs10466026 Benign
61741 Q9H251 (CDH23) D N 2045 rs121908348 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61742 Q9H251 (CDH23) R Q 2066 rs201887949 Benign
61743 Q9H251 (CDH23) I M 2125 rs16929354 Benign
61744 Q9H251 (CDH23) A V 2130 - Benign
61745 Q9H251 (CDH23) D N 2148 rs111033271 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61746 Q9H251 (CDH23) R C 2171 rs781698111 Benign
61747 Q9H251 (CDH23) D N 2202 rs121908349 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61748 Q9H251 (CDH23) Q P 2227 rs778453484 Benign
61749 Q9H251 (CDH23) V I 2283 rs41281334 Benign
61750 Q9H251 (CDH23) N K 2287 - Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61751 Q9H251 (CDH23) R Q 2358 rs4747194 Benign
61752 Q9H251 (CDH23) D N 2376 rs9663920 Benign
61753 Q9H251 (CDH23) D V 2376 - Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61754 Q9H251 (CDH23) P L 2380 rs4747195 Benign
61755 Q9H251 (CDH23) E K 2438 rs1264310782 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61756 Q9H251 (CDH23) R W 2465 rs760879110 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61757 Q9H251 (CDH23) L P 2473 - Benign
61758 Q9H251 (CDH23) R H 2489 rs141986620 Benign
61759 Q9H251 (CDH23) S G 2517 rs759093040 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61760 Q9H251 (CDH23) T I 2530 rs781406146 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61761 Q9H251 (CDH23) M V 2531 rs569138025 Benign
61762 Q9H251 (CDH23) E Q 2588 rs41281338 Benign
61763 Q9H251 (CDH23) R H 2608 rs202052174 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61764 Q9H251 (CDH23) I V 2669 - Benign
61765 Q9H251 (CDH23) G S 2744 rs376189742 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61766 Q9H251 (CDH23) G S 2771 rs201076440 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61767 Q9H251 (CDH23) F V 2801 rs3802707 Benign
61768 Q9H251 (CDH23) R G 2833 rs760130862 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61769 Q9H251 (CDH23) G S 2912 rs1381655860 Benign
61770 Q9H251 (CDH23) V E 2933 - Benign
61771 Q9H251 (CDH23) I N 2950 rs752937051 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61772 Q9H251 (CDH23) D N 2954 rs756793995 Benign
61773 Q9H251 (CDH23) R C 2956 rs751367894 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61774 Q9H251 (CDH23) N S 2962 - Benign
61775 Q9H251 (CDH23) V A 2968 rs765847991 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61776 Q9H251 (CDH23) P T 3059 rs780514498 Disease: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]
61777 Q9H251 (CDH23) M T 3062 rs770888523 Benign
61778 Q9H251 (CDH23) A T 3080 rs369395479 Benign
61779 Q9H251 (CDH23) F L 3125 rs45583140 Benign
61780 Q9H251 (CDH23) R C 3175 rs770796134 Benign
61781 Q9H251 (CDH23) R H 3175 rs140884994 Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61782 Q9H251 (CDH23) R W 3189 rs121908353 Disease: Usher syndrome 1D/F (USH1DF) [MIM:601067]
61783 Q9H251 (CDH23) S F 3245 - Disease: Usher syndrome 1D (USH1D) [MIM:601067]
61784 Q9H252 (KCNH6) G R 165 rs35399062 Benign
61785 Q9H252 (KCNH6) T M 925 rs35819807 Benign
61786 Q9H254 (SPTBN4) G S 1331 rs814501 Benign
61787 Q9H257 (CARD9) S N 12 rs4077515 Benign
61788 Q9H257 (CARD9) G S 72 rs398122362 Disease: Candidiasis, familial, 2 (CANDF2) [MIM:212050]
61789 Q9H257 (CARD9) R C 101 rs398122364 Disease: Candidiasis, familial, 2 (CANDF2) [MIM:212050]
61790 Q9H257 (CARD9) R P 373 rs149712114 Disease: Candidiasis, familial, 2 (CANDF2) [MIM:212050]
61791 Q9H267 (VPS33B) L P 30 rs121434385 Disease: Arthrogrypos is, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085]
61792 Q9H267 (VPS33B) S F 243 rs139829189 Disease: Arthrogrypos is, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085]
61793 Q9H267 (VPS33B) F S 513 rs3177428 Benign
61794 Q9H267 (VPS33B) G S 514 rs11073964 Benign
61795 Q9H269 (VPS16) N K 52 rs367642720 Disease: -
61796 Q9H269 (VPS16) S I 637 rs35773586 Benign
61797 Q9H270 (VPS11) V I 770 rs11558589 Benign
61798 Q9H270 (VPS11) C G 846 - Disease: Leukodystrop hy, hypomyelinat ing, 12 (HLD12) [MIM:616683]
61799 Q9H295 (DCSTAMP) D G 349 rs3802204 Benign
61800 Q9H2A2 (ALDH8A1) F S 402 rs2294315 Benign
61801 Q9H2A7 (CXCL16) I T 123 - Benign
61802 Q9H2A7 (CXCL16) A V 181 rs2277680 Benign
61803 Q9H2A9 (CHST8) R W 77 rs149660944 Disease: Peeling skin syndrome 3 (PSS3) [MIM:616265]
61804 Q9H2B2 (SYT4) S N 142 rs16977447 Benign
61805 Q9H2B4 (SLC26A1) T M 185 rs139024319 Disease: Nephrolithia sis, calcium oxalate (CAON) [MIM:167030]
61806 Q9H2B4 (SLC26A1) S L 358 rs148832260 Disease: Nephrolithia sis, calcium oxalate (CAON) [MIM:167030]
61807 Q9H2B4 (SLC26A1) Q R 556 rs3796622 Benign
61808 Q9H2C0 (GAN) R S 15 rs119485093 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61809 Q9H2C0 (GAN) A P 51 rs750258209 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61810 Q9H2C0 (GAN) S G 52 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61811 Q9H2C0 (GAN) S L 79 rs1310137430 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61812 Q9H2C0 (GAN) V F 82 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61813 Q9H2C0 (GAN) I F 86 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61814 Q9H2C0 (GAN) Y C 89 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61815 Q9H2C0 (GAN) I T 102 - Disease: -
61816 Q9H2C0 (GAN) R H 138 rs119485092 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61817 Q9H2C0 (GAN) V F 195 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61818 Q9H2C0 (GAN) R Q 269 rs759581558 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61819 Q9H2C0 (GAN) L R 309 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61820 Q9H2C0 (GAN) P L 315 rs144486241 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61821 Q9H2C0 (GAN) G R 368 rs758756818 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61822 Q9H2C0 (GAN) I T 423 rs119485091 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61823 Q9H2C0 (GAN) V I 438 - Disease: -
61824 Q9H2C0 (GAN) G R 474 rs1435035575 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61825 Q9H2C0 (GAN) E K 486 rs119485088 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61826 Q9H2C0 (GAN) R C 545 rs112201678 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61827 Q9H2C0 (GAN) R H 545 rs746486469 Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61828 Q9H2C0 (GAN) C Y 570 - Disease: Giant axonal neuropathy 1, autosomal recessive (GAN1) [MIM:256850]
61829 Q9H2C2 (ARV1) G E 101 rs35764859 Benign
61830 Q9H2C2 (ARV1) G R 189 rs730882241 Disease: Epileptic encephalopat hy, early infantile, 38 (EIEE38) [MIM:617020]
61831 Q9H2C8 (OR51V1) L V 211 - Benign
61832 Q9H2C8 (OR51V1) S L 233 rs7933549 Benign
61833 Q9H2D1 (SLC25A32) R H 117 rs17803441 Benign
61834 Q9H2D1 (SLC25A32) R H 147 rs142329098 Disease: Exercise intolerance, riboflavin- responsive (RREI) [MIM:616839]
61835 Q9H2D6 (TRIOBP) S N 217 rs12628603 Benign
61836 Q9H2D6 (TRIOBP) S N 493 rs4821700 Benign
61837 Q9H2D6 (TRIOBP) T S 817 rs41302575 Benign
61838 Q9H2D6 (TRIOBP) N K 863 rs9610841 Benign
61839 Q9H2D6 (TRIOBP) G R 1019 rs549095193 Disease: Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823]
61840 Q9H2D6 (TRIOBP) F L 1187 rs5756795 Benign
61841 Q9H2D6 (TRIOBP) H R 1300 rs739138 Benign
61842 Q9H2D6 (TRIOBP) E D 1372 rs8140207 Benign
61843 Q9H2D6 (TRIOBP) W R 1377 rs8140958 Benign
61844 Q9H2E6 (SEMA6A) Y H 518 rs34966 Benign
61845 Q9H2E6 (SEMA6A) R H 559 rs17432496 Benign
61846 Q9H2E6 (SEMA6A) D E 567 rs12516652 Benign
61847 Q9H2F3 (HSD3B7) G S 19 - Disease: Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]
61848 Q9H2F3 (HSD3B7) E K 147 rs104894518 Disease: Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]
61849 Q9H2F3 (HSD3B7) T A 250 rs9938550 Benign
61850 Q9H2F3 (HSD3B7) L P 347 rs34212827 Benign
61851 Q9H2F5 (EPC1) V L 123 - Benign
61852 Q9H2F9 (CCDC68) V A 249 rs34751112 Benign
61853 Q9H2G2 (SLK) C Y 552 rs805657 Benign
61854 Q9H2G2 (SLK) A G 658 rs56400929 Benign
61855 Q9H2G2 (SLK) G E 666 rs7071400 Benign
61856 Q9H2G2 (SLK) I T 679 rs34326537 Benign
61857 Q9H2G2 (SLK) K N 683 rs35389916 Benign
61858 Q9H2G2 (SLK) T I 697 rs3740469 Benign
61859 Q9H2G9 (BLZF1) Q R 40 rs1028180 Benign
61860 Q9H2G9 (BLZF1) R Q 196 rs1064274 Benign
61861 Q9H2H8 (PPIL3) D E 146 rs7562391 Benign
61862 Q9H2I8 (LRMDA) S F 153 rs35349706 Benign
61863 Q9H2J7 (SLC6A15) A V 400 rs12424429 Benign
61864 Q9H2J7 (SLC6A15) I M 603 rs3782369 Benign
61865 Q9H2K0 (MTIF3) T I 68 rs17857314 Benign
61866 Q9H2K0 (MTIF3) F L 243 rs1218825 Benign
61867 Q9H2K8 (TAOK3) S N 47 rs428073 Benign
61868 Q9H2K8 (TAOK3) C Y 727 rs55857273 Benign
61869 Q9H2L4 (TMEM60) V G 42 rs34580932 Benign
61870 Q9H2L5 (RASSF4) H Y 10 rs34692238 Benign
61871 Q9H2L5 (RASSF4) R G 88 rs870957 Benign
61872 Q9H2M9 (RAB3GAP2) T A 863 rs12045447 Benign
61873 Q9H2M9 (RAB3GAP2) G C 1052 rs121434310 Disease: Martsolf syndrome (MARTS) [MIM:212720]
61874 Q9H2M9 (RAB3GAP2) S T 1092 rs2289189 Benign
61875 Q9H2R5 (KLK15) P L 134 rs3212805 Benign
61876 Q9H2S5 (RNF39) S P 203 rs2074479 Benign
61877 Q9H2S5 (RNF39) A T 245 rs2301752 Benign
61878 Q9H2S5 (RNF39) D N 268 rs1057539 Benign
61879 Q9H2S5 (RNF39) A E 304 rs2301753 Benign
61880 Q9H2U1 (DHX36) E K 151 rs1058299 Benign
61881 Q9H2U1 (DHX36) S C 416 rs9438 Benign
61882 Q9H2U1 (DHX36) I N 583 rs17853513 Benign
61883 Q9H2U2 (PPA2) S P 61 - Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61884 Q9H2U2 (PPA2) M V 94 rs1057517679 Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61885 Q9H2U2 (PPA2) M I 106 rs1057517680 Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61886 Q9H2U2 (PPA2) R L 127 rs139076647 Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61887 Q9H2U2 (PPA2) P L 167 rs546693824 Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61888 Q9H2U2 (PPA2) E K 172 rs146013446 Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61889 Q9H2U2 (PPA2) P L 228 rs138215926 Disease: Sudden cardiac failure, alcohol- induced (SCFAI) [MIM:617223]
61890 Q9H2U2 (PPA2) K N 282 rs13787 Benign
61891 Q9H2U2 (PPA2) Q P 294 rs1057517678 Disease: Sudden cardiac failure, infantile (SCFI) [MIM:617222]
61892 Q9H2U9 (ADAM7) E Q 25 rs34852692 Benign
61893 Q9H2U9 (ADAM7) I V 205 rs7829386 Benign
61894 Q9H2U9 (ADAM7) V M 244 rs13255694 Benign
61895 Q9H2U9 (ADAM7) I T 453 rs3736281 Benign
61896 Q9H2U9 (ADAM7) L V 570 rs2307044 Benign
61897 Q9H2U9 (ADAM7) N H 638 rs13259668 Benign
61898 Q9H2U9 (ADAM7) L P 735 rs6980829 Benign
61899 Q9H2V7 (SPNS1) A P 230 rs17855956 Benign
61900 Q9H2W1 (MS4A6A) A S 183 rs1440597159 Benign
61901 Q9H2W1 (MS4A6A) T S 185 rs7232 Benign
61902 Q9H2W6 (MRPL46) H Y 106 rs16941888 Benign
61903 Q9H2X0 (CHRD) P S 94 rs34095724 Benign
61904 Q9H2X0 (CHRD) M L 630 rs16858780 Benign
61905 Q9H2X3 (CLEC4M) R Q 164 rs11465376 Benign
61906 Q9H2X3 (CLEC4M) Y C 205 rs479448 Benign
61907 Q9H2X3 (CLEC4M) Y C 251 rs479448 Benign
61908 Q9H2X3 (CLEC4M) D N 291 rs2277998 Benign
61909 Q9H2X6 (HIPK2) R Q 792 rs56132157 Benign
61910 Q9H2X6 (HIPK2) R Q 1027 rs35255718 Benign
61911 Q9H2X9 (SLC12A5) L H 311 rs863225306 Disease: Epileptic encephalopat hy, early infantile, 34 (EIEE34) [MIM:616645]
61912 Q9H2X9 (SLC12A5) P A 407 rs16985442 Benign
61913 Q9H2X9 (SLC12A5) L P 426 rs863225304 Disease: Epileptic encephalopat hy, early infantile, 34 (EIEE34) [MIM:616645]
61914 Q9H2X9 (SLC12A5) G D 551 rs863225305 Disease: Epileptic encephalopat hy, early infantile, 34 (EIEE34) [MIM:616645]
61915 Q9H2X9 (SLC12A5) R H 975 rs142740233 Disease: Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685]
61916 Q9H2X9 (SLC12A5) R W 1071 rs369042030 Benign
61917 Q9H2X9 (SLC12A5) R C 1072 rs548424453 Disease: Epilepsy, idiopathic generalized 14 (EIG14) [MIM:616685]
61918 Q9H2X9 (SLC12A5) P L 1100 rs17297532 Benign
61919 Q9H2Y7 (ZNF106) W R 103 rs12440118 Benign
61920 Q9H2Y7 (ZNF106) I T 646 rs12101559 Benign
61921 Q9H2Y7 (ZNF106) M V 656 rs34792942 Benign
61922 Q9H2Y7 (ZNF106) P T 1162 rs34983340 Benign
61923 Q9H2Y9 (SLCO5A1) L F 33 rs3750266 Benign
61924 Q9H300 (PARL) A G 137 rs4912470 Benign
61925 Q9H300 (PARL) V L 262 rs3732581 Benign
61926 Q9H306 (MMP27) R W 22 rs12099177 Benign
61927 Q9H306 (MMP27) T M 24 rs1939015 Benign
61928 Q9H306 (MMP27) M V 30 rs2846707 Benign
61929 Q9H306 (MMP27) E V 266 rs1276286 Benign
61930 Q9H306 (MMP27) W L 304 rs35616217 Benign
61931 Q9H306 (MMP27) D N 447 rs2509010 Benign
61932 Q9H306 (MMP27) I V 477 rs35822551 Benign
61933 Q9H307 (PNN) S G 671 rs13021 Benign
61934 Q9H310 (RHBG) G D 76 rs2245623 Benign
61935 Q9H310 (RHBG) V D 143 rs11586833 Benign
61936 Q9H310 (RHBG) G R 315 rs3748569 Benign
61937 Q9H310 (RHBG) C R 339 rs3748567 Benign
61938 Q9H320 (VCX) A G 70 rs6639946 Benign
61939 Q9H320 (VCX) P L 194 rs78342118 Benign
61940 Q9H321 (VCX3B) K T 15 rs201965035 Benign
61941 Q9H322 (VCX2) A G 70 rs41309545 Benign
61942 Q9H322 (VCX2) L P 104 rs41305169 Benign
61943 Q9H322 (VCX2) V L 110 rs1058237 Benign
61944 Q9H322 (VCX2) T S 138 rs1058239 Benign
61945 Q9H324 (ADAMTS10) A T 25 - Disease: Weill- Marchesani syndrome 1 (WMS1) [MIM:277600]
61946 Q9H324 (ADAMTS10) R Q 119 rs3814291 Benign
61947 Q9H324 (ADAMTS10) T S 134 rs7255721 Benign
61948 Q9H329 (EPB41L4B) N T 816 rs3750450 Benign
61949 Q9H330 (TMEM245) D E 9 rs12001627 Benign
61950 Q9H330 (TMEM245) A T 314 rs2271877 Benign
61951 Q9H330 (TMEM245) T A 787 rs3750455 Benign
61952 Q9H334 (FOXP1) S P 5 rs762898505 Benign
61953 Q9H334 (FOXP1) M V 101 rs564508875 Benign
61954 Q9H334 (FOXP1) I T 107 - Benign
61955 Q9H334 (FOXP1) P A 215 rs146606219 Benign
61956 Q9H334 (FOXP1) S P 261 - Benign
61957 Q9H334 (FOXP1) T S 390 rs761840006 Benign
61958 Q9H334 (FOXP1) V M 445 rs147756430 Benign
61959 Q9H334 (FOXP1) R G 465 rs869025202 Disease: Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]
61960 Q9H334 (FOXP1) R C 514 rs869025203 Disease: Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]
61961 Q9H334 (FOXP1) W R 534 rs587777855 Disease: Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670]
61962 Q9H334 (FOXP1) N S 570 rs140161845 Benign
61963 Q9H334 (FOXP1) N T 597 - Benign
61964 Q9H334 (FOXP1) T N 613 rs1318614471 Benign
61965 Q9H336 (CRISPLD1) A S 286 rs1945 Benign
61966 Q9H339 (OR51B5) G S 5 rs11036913 Benign
61967 Q9H339 (OR51B5) T K 78 rs57273781 Benign
61968 Q9H339 (OR51B5) R G 88 rs57900141 Benign
61969 Q9H339 (OR51B5) I T 102 rs11036912 Benign
61970 Q9H339 (OR51B5) V I 154 rs12273630 Benign
61971 Q9H339 (OR51B5) P L 160 rs4910551 Benign
61972 Q9H339 (OR51B5) L F 220 rs7120319 Benign
61973 Q9H340 (OR51B6) K T 5 rs4910755 Benign
61974 Q9H340 (OR51B6) N S 40 rs4910756 Benign
61975 Q9H340 (OR51B6) I T 90 rs7483122 Benign
61976 Q9H340 (OR51B6) T A 123 rs5006889 Benign
61977 Q9H340 (OR51B6) R H 125 rs7479477 Benign
61978 Q9H340 (OR51B6) S N 126 rs5006888 Benign
61979 Q9H340 (OR51B6) T I 131 rs5006887 Benign
61980 Q9H340 (OR51B6) R G 145 rs5006886 Benign
61981 Q9H340 (OR51B6) S A 169 rs5006885 Benign
61982 Q9H340 (OR51B6) L F 172 rs5006884 Benign
61983 Q9H340 (OR51B6) F L 192 rs5006883 Benign
61984 Q9H340 (OR51B6) V L 254 rs7106330 Benign
61985 Q9H340 (OR51B6) S R 275 rs5024042 Benign
61986 Q9H341 (OR51M1) H Q 102 rs1498467 Benign
61987 Q9H341 (OR51M1) L F 135 rs1498468 Benign
61988 Q9H341 (OR51M1) I T 204 rs1498469 Benign
61989 Q9H341 (OR51M1) P H 256 rs9783355 Benign
61990 Q9H341 (OR51M1) L R 257 rs2736531 Benign
61991 Q9H341 (OR51M1) F L 318 rs10768907 Benign
61992 Q9H342 (OR51J1) C Y 100 rs1909261 Benign
61993 Q9H343 (OR51I1) R H 124 rs16930982 Benign
61994 Q9H343 (OR51I1) V L 164 rs11037445 Benign
61995 Q9H343 (OR51I1) A S 252 rs1498486 Benign
61996 Q9H344 (OR51I2) R C 122 rs10450603 Benign
61997 Q9H344 (OR51I2) T A 134 rs12577167 Benign
61998 Q9H344 (OR51I2) R P 151 rs16931292 Benign
61999 Q9H344 (OR51I2) R H 263 rs11037502 Benign
62000 Q9H346 (OR52D1) R C 154 rs7935144 Benign
62001 Q9H346 (OR52D1) D E 213 rs7924754 Benign
62002 Q9H346 (OR52D1) Y F 221 rs7950082 Benign
62003 Q9H346 (OR52D1) I T 251 rs7101919 Benign
62004 Q9H346 (OR52D1) R W 304 rs11037758 Benign
62005 Q9H347 (UBQLN3) C R 255 rs2234446 Benign
62006 Q9H347 (UBQLN3) N D 285 rs2234449 Benign
62007 Q9H347 (UBQLN3) T A 287 rs2234450 Benign
62008 Q9H347 (UBQLN3) T S 290 rs2234451 Benign
62009 Q9H347 (UBQLN3) M T 546 rs2234455 Benign
62010 Q9H347 (UBQLN3) R Q 624 rs2227271 Benign
62011 Q9H3D4 (TP63) S L 129 rs193287780 Benign
62012 Q9H3D4 (TP63) K E 232 - Disease: Split- hand/foot malformation 4 (SHFM4) [MIM:605289]
62013 Q9H3D4 (TP63) K E 233 rs121908838 Disease: Split- hand/foot malformation 4 (SHFM4) [MIM:605289]
62014 Q9H3D4 (TP63) R Q 243 rs121908836 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62015 Q9H3D4 (TP63) R W 243 rs121908835 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62016 Q9H3D4 (TP63) R Q 266 rs121908849 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62017 Q9H3D4 (TP63) C Y 308 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62018 Q9H3D4 (TP63) S N 311 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62019 Q9H3D4 (TP63) R C 318 rs1205536026 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62020 Q9H3D4 (TP63) R H 318 rs121908840 Disease: Rapp-Hodgkin syndrome (RHS) [MIM:129400]
62021 Q9H3D4 (TP63) R Q 318 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62022 Q9H3D4 (TP63) R C 319 rs121908839 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62023 Q9H3D4 (TP63) R H 319 rs886039442 Disease: Split- hand/foot malformation 4 (SHFM4) [MIM:605289]
62024 Q9H3D4 (TP63) R S 319 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62025 Q9H3D4 (TP63) R Q 337 rs113993967 Disease: Acro- dermato- ungual- lacrimal- tooth syndrome (ADULT syndrome) [MIM:103285]
62026 Q9H3D4 (TP63) R Q 343 rs121908841 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62027 Q9H3D4 (TP63) R W 343 rs886041251 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62028 Q9H3D4 (TP63) C R 345 rs121908837 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62029 Q9H3D4 (TP63) C S 347 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62030 Q9H3D4 (TP63) P S 348 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62031 Q9H3D4 (TP63) D G 351 rs121908844 Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62032 Q9H3D4 (TP63) D H 351 - Disease: Ectrodactyly , ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]
62033 Q9H3D4 (TP63) R G 352 rs121908847 Disease: Orofacial cleft 8 (OFC8) [MIM:618149]
62034 Q9H3D4 (TP63) I T 549 rs121908845 Disease: Rapp-Hodgkin syndrome (RHS) [MIM:129400]
62035 Q9H3D4 (TP63) L F 553 rs121908842 Disease: Ankyloblepha ron- ectodermal defects- cleft lip/palate (AEC) [MIM:106260]
62036 Q9H3D4 (TP63) C G 561 rs121908843 Disease: Ankyloblepha ron- ectodermal defects- cleft lip/palate (AEC) [MIM:106260]
62037 Q9H3D4 (TP63) S P 580 rs121908846 Disease: Rapp-Hodgkin syndrome (RHS) [MIM:129400]
62038 Q9H3D4 (TP63) D H 603 rs767906723 Benign
62039 Q9H3E2 (SNX25) E K 318 rs35700132 Benign
62040 Q9H3E2 (SNX25) I V 586 rs3756275 Benign
62041 Q9H3E2 (SNX25) T I 725 rs34120554 Benign
62042 Q9H3G5 (CPVL) S L 11 rs36074676 Benign
62043 Q9H3G5 (CPVL) R H 25 rs34219043 Benign
62044 Q9H3G5 (CPVL) R H 398 rs1052200 Benign
62045 Q9H3G5 (CPVL) A V 435 rs7313 Benign
62046 Q9H3H1 (TRIT1) F L 202 rs3738671 Benign
62047 Q9H3H1 (TRIT1) R Q 323 rs1047420796 Disease: Combined oxidative phosphorylat ion deficiency 35 (COXPD35) [MIM:617873]
62048 Q9H3H3 (C11orf68) Q R 195 rs7947504 Benign
62049 Q9H3H5 (DPAGT1) M I 108 rs376039938 Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
62050 Q9H3H5 (DPAGT1) V I 117 rs387907243 Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
62051 Q9H3H5 (DPAGT1) L M 120 rs387907244 Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
62052 Q9H3H5 (DPAGT1) G S 160 rs762676399 Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
62053 Q9H3H5 (DPAGT1) Y C 170 rs28934876 Disease: Congenital disorder of glycosylatio n 1J (CDG1J) [MIM:608093]
62054 Q9H3H5 (DPAGT1) G S 192 rs768464558 Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
62055 Q9H3H5 (DPAGT1) V G 264 rs387907245 Disease: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]
62056 Q9H3H5 (DPAGT1) I V 393 rs643788 Benign
62057 Q9H3H9 (TCEAL2) D G 19 rs34924423 Benign
62058 Q9H3H9 (TCEAL2) G A 68 rs5944856 Benign
62059 Q9H3J6 (C12orf65) A T 134 rs1045496 Benign
62060 Q9H3L0 (MMADHC) T N 182 rs118204045 Disease: Methylmaloni c aciduria and homocystinur ia, cblD type (MAHCD) [MIM:277410]
62061 Q9H3L0 (MMADHC) Y C 249 rs118204046 Disease: Methylmaloni c aciduria and homocystinur ia, cblD type (MAHCD) [MIM:277410]
62062 Q9H3L0 (MMADHC) L P 259 rs118204044 Disease: Methylmaloni c aciduria and homocystinur ia, cblD type (MAHCD) [MIM:277410]
62063 Q9H3M7 (TXNIP) R Q 177 rs6674773 Benign
62064 Q9H3M9 (ATXN3L) L F 266 rs16999010 Benign
62065 Q9H3M9 (ATXN3L) G D 332 rs4830842 Benign
62066 Q9H3N8 (HRH4) A V 138 rs11665084 Benign
62067 Q9H3N8 (HRH4) H R 206 rs11662595 Benign
62068 Q9H3P2 (NELFA) S A 335 rs2234569 Benign
62069 Q9H3P7 (ACBD3) E D 187 rs2306120 Benign
62070 Q9H3Q3 (GAL3ST2) M L 4 rs12469459 Benign
62071 Q9H3R0 (KDM4C) E D 206 rs7864351 Benign
62072 Q9H3R0 (KDM4C) D N 396 rs2296067 Benign
62073 Q9H3R0 (KDM4C) S T 492 rs35826653 Benign
62074 Q9H3R0 (KDM4C) N S 697 rs35389625 Benign
62075 Q9H3R0 (KDM4C) Q E 767 rs1407856 Benign
62076 Q9H3R0 (KDM4C) K R 772 rs1417290 Benign
62077 Q9H3R0 (KDM4C) V I 1039 rs913588 Benign
62078 Q9H3R1 (NDST4) R Q 12 rs35181627 Benign
62079 Q9H3R2 (MUC13) A V 18 rs4679394 Benign
62080 Q9H3R2 (MUC13) I T 100 rs4679392 Benign
62081 Q9H3R2 (MUC13) S G 364 rs16836185 Benign
62082 Q9H3R2 (MUC13) R S 503 rs1127233 Benign
62083 Q9H3S1 (SEMA4A) D H 345 rs267607033 Disease: Retinitis pigmentosa 35 (RP35) [MIM:610282]
62084 Q9H3S1 (SEMA4A) F C 350 rs267607034 Disease: Retinitis pigmentosa 35 (RP35) [MIM:610282]
62085 Q9H3S1 (SEMA4A) R Q 510 rs2075164 Benign
62086 Q9H3S1 (SEMA4A) R Q 713 rs41265017 Benign
62087 Q9H3S3 (TMPRSS5) R Q 46 rs11601425 Benign
62088 Q9H3S3 (TMPRSS5) V M 125 rs7939917 Benign
62089 Q9H3S3 (TMPRSS5) A V 249 rs1263487635 Benign
62090 Q9H3S3 (TMPRSS5) P S 337 - Benign
62091 Q9H3S3 (TMPRSS5) F L 369 rs7110736 Benign
62092 Q9H3S4 (TPK1) L P 40 rs387906936 Disease: Thiamine metabolism dysfunction syndrome 5, episodic encephalopat hy type (THMD5) [MIM:614458]
62093 Q9H3S4 (TPK1) N H 50 rs387906935 Disease: Thiamine metabolism dysfunction syndrome 5, episodic encephalopat hy type (THMD5) [MIM:614458]
62094 Q9H3S4 (TPK1) N S 219 rs371271054 Disease: Thiamine metabolism dysfunction syndrome 5, episodic encephalopat hy type (THMD5) [MIM:614458]
62095 Q9H3S5 (PIGM) F L 365 rs12409352 Benign
62096 Q9H3S7 (PTPN23) A T 944 rs6780013 Benign
62097 Q9H3T2 (SEMA6C) T P 455 rs4971007 Benign
62098 Q9H3U1 (UNC45A) T M 796 rs8041035 Benign
62099 Q9H3U5 (MFSD1) P S 24 rs28364680 Benign
62100 Q9H3U5 (MFSD1) K E 168 rs17854200 Benign
62101 Q9H3U5 (MFSD1) I V 220 rs3765083 Benign
62102 Q9H3U5 (MFSD1) I T 271 rs11551240 Benign
62103 Q9H3W5 (LRRN3) D G 24 rs9942557 Benign
62104 Q9H3Y0 (R3HDML) F C 15 rs11699901 Benign
62105 Q9H3Y0 (R3HDML) D N 68 rs36117710 Benign
62106 Q9H3Y6 (SRMS) R C 73 rs56053583 Benign
62107 Q9H3Y6 (SRMS) G R 75 rs55863722 Benign
62108 Q9H3Y6 (SRMS) I V 88 rs35558836 Benign
62109 Q9H3Y6 (SRMS) P L 218 rs378483 Benign
62110 Q9H3Y6 (SRMS) V M 255 rs34969822 Benign
62111 Q9H3Y6 (SRMS) V L 301 rs310657 Benign
62112 Q9H3Y6 (SRMS) P L 325 rs8122355 Benign
62113 Q9H3Y6 (SRMS) D E 377 rs55838540 Benign
62114 Q9H3Y6 (SRMS) A V 397 rs6011889 Benign
62115 Q9H3Y6 (SRMS) P L 452 rs8120713 Benign
62116 Q9H3Y6 (SRMS) A T 453 rs310655 Benign
62117 Q9H3Y6 (SRMS) V L 457 rs310654 Benign
62118 Q9H3Y6 (SRMS) S T 465 rs33933649 Benign
62119 Q9H3Z4 (DNAJC5) L R 115 rs387907043 Disease: Ceroid lipofuscinos is, neuronal, 4B (CLN4B) [MIM:162350]
62120 Q9H3Z7 (ABHD16B) L Q 10 rs2281534 Benign
62121 Q9H400 (LIME1) P L 211 rs1151625 Benign
62122 Q9H422 (HIPK3) Q R 142 rs34193811 Benign
62123 Q9H422 (HIPK3) G E 170 rs34698015 Benign
62124 Q9H422 (HIPK3) C R 191 rs35689361 Benign
62125 Q9H422 (HIPK3) V I 474 rs266472 Benign
62126 Q9H422 (HIPK3) S N 500 rs11032229 Benign
62127 Q9H422 (HIPK3) P L 729 rs55807239 Benign
62128 Q9H425 (C1orf198) A S 274 rs34864456 Benign
62129 Q9H425 (C1orf198) K R 306 rs35115679 Benign
62130 Q9H427 (KCNK15) G E 95 rs1111032 Benign
62131 Q9H427 (KCNK15) P T 260 rs6073538 Benign
62132 Q9H427 (KCNK15) P H 261 rs13037900 Benign
62133 Q9H427 (KCNK15) P L 323 rs13042905 Benign
62134 Q9H444 (CHMP4B) D V 129 rs118203965 Disease: Cataract 31, multiple types (CTRCT31) [MIM:605387]
62135 Q9H444 (CHMP4B) E K 161 rs118203966 Disease: Cataract 31, multiple types (CTRCT31) [MIM:605387]
62136 Q9H488 (POFUT1) L F 322 rs17268666 Benign
62137 Q9H488 (POFUT1) D N 348 rs35259534 Benign
62138 Q9H489 (TSPY26P) P H 246 rs3813922 Benign
62139 Q9H490 (PIGU) I K 70 - Disease: Glycosylphos phatidylinos itol biosynthesis defect 21 (GPIBD21) [MIM:618590]
62140 Q9H490 (PIGU) N K 383 - Disease: Glycosylphos phatidylinos itol biosynthesis defect 21 (GPIBD21) [MIM:618590]
62141 Q9H497 (TOR3A) F L 13 rs2296377 Benign
62142 Q9H4A3 (WNK1) A T 141 rs11554421 Benign
62143 Q9H4A3 (WNK1) A V 149 rs34880640 Benign
62144 Q9H4A3 (WNK1) I T 509 rs34728563 Benign
62145 Q9H4A3 (WNK1) D G 527 rs34408667 Benign
62146 Q9H4A3 (WNK1) T I 665 rs2286007 Benign
62147 Q9H4A3 (WNK1) T A 674 rs11833299 Benign
62148 Q9H4A3 (WNK1) H R 823 rs56015776 Benign
62149 Q9H4A3 (WNK1) T P 1056 rs956868 Benign
62150 Q9H4A3 (WNK1) C S 1506 rs7955371 Benign
62151 Q9H4A3 (WNK1) A V 1546 rs56351358 Benign
62152 Q9H4A3 (WNK1) M I 1808 rs12828016 Benign
62153 Q9H4A3 (WNK1) P L 1823 rs17755373 Benign
62154 Q9H4A3 (WNK1) R H 1957 rs36083875 Benign
62155 Q9H4A3 (WNK1) R W 2380 rs56262445 Benign
62156 Q9H4A4 (RNPEP) V I 579 rs3820439 Benign
62157 Q9H4A9 (DPEP2) R P 201 rs255051 Benign
62158 Q9H4A9 (DPEP2) H D 468 rs1133090 Benign
62159 Q9H4B0 (OSGEPL1) A P 229 rs3749014 Benign
62160 Q9H4B4 (PLK3) T S 61 rs17884581 Benign
62161 Q9H4B4 (PLK3) L F 68 rs17884316 Benign
62162 Q9H4B4 (PLK3) L F 283 rs17880471 Benign
62163 Q9H4B4 (PLK3) R C 483 rs17884653 Benign
62164 Q9H4B4 (PLK3) D N 491 rs17855444 Benign
62165 Q9H4B4 (PLK3) S L 498 rs17880829 Benign
62166 Q9H4B4 (PLK3) S P 618 rs17881786 Benign
62167 Q9H4B7 (TUBB1) Q H 43 rs415064 Benign
62168 Q9H4B7 (TUBB1) Q P 43 rs463312 Benign
62169 Q9H4B7 (TUBB1) T M 274 rs35565630 Benign
62170 Q9H4B7 (TUBB1) R H 307 rs6070697 Benign
62171 Q9H4B7 (TUBB1) R W 318 rs121918555 Disease: Macrothrombo cytopenia, autosomal dominant, TUBB1-relate d (MAD-TUBB1) [MIM:613112]
62172 Q9H4D0 (CLSTN2) I T 331 rs17348572 Benign
62173 Q9H4D0 (CLSTN2) V I 366 rs7632885 Benign
62174 Q9H4D5 (NXF3) N I 186 rs2301387 Benign
62175 Q9H4E7 (DEF6) N T 287 rs2395617 Benign
62176 Q9H4E7 (DEF6) R H 578 rs9296146 Benign
62177 Q9H4F8 (SMOC1) V M 82 rs10150925 Benign
62178 Q9H4F8 (SMOC1) R C 278 rs776638586 Disease: Ophthalmoacr omelic syndrome (OAS) [MIM:206920]
62179 Q9H4F8 (SMOC1) T N 283 - Disease: Ophthalmoacr omelic syndrome (OAS) [MIM:206920]
62180 Q9H4F8 (SMOC1) R H 286 rs1365818420 Disease: Ophthalmoacr omelic syndrome (OAS) [MIM:206920]
62181 Q9H4G0 (EPB41L1) P S 854 - Disease: Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]
62182 Q9H4G1 (CST9L) H P 109 rs2295564 Benign
62183 Q9H4I0 (RAD21L1) C R 90 rs450739 Benign
62184 Q9H4I0 (RAD21L1) I L 152 rs203534 Benign
62185 Q9H4I0 (RAD21L1) H P 423 rs17717241 Benign
62186 Q9H4I2 (ZHX3) N S 310 rs17265513 Benign
62187 Q9H4I8 (SERHL2) E K 3 rs3213549 Benign
62188 Q9H4I8 (SERHL2) S N 46 rs926333 Benign
62189 Q9H4I8 (SERHL2) C R 306 rs137055 Benign
62190 Q9H4I9 (SMDT1) R G 46 rs17852210 Benign
62191 Q9H4K1 (RIBC2) R C 253 rs2142661 Benign
62192 Q9H4K1 (RIBC2) F L 268 rs1022478 Benign
62193 Q9H4K1 (RIBC2) R Q 335 rs2072770 Benign
62194 Q9H4K7 (MTG2) G S 47 rs6062133 Benign
62195 Q9H4K7 (MTG2) H R 93 rs11700220 Benign
62196 Q9H4K7 (MTG2) A V 337 rs35693261 Benign
62197 Q9H4L4 (SENP3) W R 515 rs9972914 Benign
62198 Q9H4L5 (OSBPL3) M V 354 rs11768296 Benign
62199 Q9H4L7 (SMARCAD1) S F 66 rs11723410 Benign
62200 Q9H4L7 (SMARCAD1) L F 135 rs2664891 Benign
62201 Q9H4L7 (SMARCAD1) R C 140 rs2632398 Benign
62202 Q9H4L7 (SMARCAD1) S Y 245 rs3103117 Benign
62203 Q9H4L7 (SMARCAD1) S N 247 rs11722476 Benign
62204 Q9H4L7 (SMARCAD1) V A 301 rs7439869 Benign
62205 Q9H4L7 (SMARCAD1) P Q 351 rs17854344 Benign
62206 Q9H4L7 (SMARCAD1) V A 972 rs17857297 Benign
62207 Q9H4M7 (PLEKHA4) I V 37 rs506425 Benign
62208 Q9H4M7 (PLEKHA4) R Q 597 rs12460394 Benign
62209 Q9H4M7 (PLEKHA4) T A 714 rs34460869 Benign
62210 Q9H4M7 (PLEKHA4) G V 742 rs35965411 Benign
62211 Q9H4Q4 (PRDM12) D Y 31 rs879255637 Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
62212 Q9H4Q4 (PRDM12) I N 102 rs879255636 Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
62213 Q9H4Q4 (PRDM12) W C 160 - Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
62214 Q9H4Q4 (PRDM12) R C 168 rs767397937 Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
62215 Q9H4Q4 (PRDM12) E D 172 rs755205487 Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
62216 Q9H4Q4 (PRDM12) H L 289 rs879255638 Disease: Neuropathy, hereditary sensory and autonomic, 8 (HSAN8) [MIM:616488]
62217 Q9H4W6 (EBF3) N D 66 rs1057519518 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62218 Q9H4W6 (EBF3) Y C 141 rs1057519519 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62219 Q9H4W6 (EBF3) R L 163 rs1057519389 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62220 Q9H4W6 (EBF3) R P 163 rs1057519389 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62221 Q9H4W6 (EBF3) R Q 163 rs1057519389 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62222 Q9H4W6 (EBF3) G D 171 rs1057519437 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62223 Q9H4W6 (EBF3) P L 177 rs869312668 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62224 Q9H4W6 (EBF3) K N 193 rs1057519520 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62225 Q9H4W6 (EBF3) R W 209 rs779003155 Disease: Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330]
62226 Q9H4Y5 (GSTO2) C Y 130 rs45582439 Benign
62227 Q9H4Y5 (GSTO2) N D 142 rs156697 Benign
62228 Q9H4Z2 (ZNF335) R C 65 rs6130982 Benign
62229 Q9H4Z2 (ZNF335) G S 101 rs6094231 Benign
62230 Q9H4Z2 (ZNF335) S T 294 rs6032606 Benign
62231 Q9H4Z2 (ZNF335) Y H 603 rs16990961 Benign
62232 Q9H4Z2 (ZNF335) R H 1111 rs397514642 Disease: Microcephaly 10, primary, autosomal recessive (MCPH10) [MIM:615095]
62233 Q9H501 (ESF1) P L 386 rs6079171 Benign
62234 Q9H501 (ESF1) I T 550 rs3180370 Benign
62235 Q9H501 (ESF1) I L 824 rs34414644 Benign
62236 Q9H503 (BANF2) N D 3 rs4814640 Benign
62237 Q9H503 (BANF2) T S 78 rs1053993 Benign
62238 Q9H511 (KLHL31) N S 11 rs6908377 Benign
62239 Q9H511 (KLHL31) V I 156 rs3799260 Benign
62240 Q9H511 (KLHL31) A T 508 rs3799261 Benign
62241 Q9H553 (ALG2) S P 11 rs11545137 Benign
62242 Q9H553 (ALG2) V G 68 rs730882051 Disease: Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228]
62243 Q9H553 (ALG2) V A 367 rs35626507 Benign
62244 Q9H568 (ACTL8) A S 3 rs694214 Benign
62245 Q9H568 (ACTL8) R C 245 rs3795322 Benign
62246 Q9H582 (ZNF644) K M 369 - Benign
62247 Q9H582 (ZNF644) A T 550 rs754440728 Benign
62248 Q9H582 (ZNF644) M V 556 rs17131242 Benign
62249 Q9H582 (ZNF644) I V 587 rs146936371 Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167]
62250 Q9H582 (ZNF644) S G 672 rs387907109 Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167]
62251 Q9H582 (ZNF644) R G 680 - Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167]
62252 Q9H582 (ZNF644) C Y 699 - Disease: Myopia 21, autosomal dominant (MYP21) [MIM:614167]
62253 Q9H582 (ZNF644) H Y 706 rs908368905 Benign
62254 Q9H582 (ZNF644) K E 707 rs12117237 Benign
62255 Q9H582 (ZNF644) A V 794 rs10922938 Benign
62256 Q9H582 (ZNF644) R H 1100 rs140271599 Benign
62257 Q9H583 (HEATR1) H R 348 rs2794751 Benign
62258 Q9H583 (HEATR1) M V 607 rs2794763 Benign
62259 Q9H583 (HEATR1) D G 957 rs16833953 Benign
62260 Q9H583 (HEATR1) Y C 1433 rs653737 Benign
62261 Q9H583 (HEATR1) S N 1559 rs6661946 Benign
62262 Q9H583 (HEATR1) R H 1654 rs16833884 Benign
62263 Q9H583 (HEATR1) N S 1694 rs2275689 Benign
62264 Q9H583 (HEATR1) V A 1854 rs1885533 Benign
62265 Q9H583 (HEATR1) N D 1967 rs1126627 Benign
62266 Q9H583 (HEATR1) E G 2017 rs2275687 Benign
62267 Q9H583 (HEATR1) S L 2077 rs6664730 Benign
62268 Q9H596 (DUSP21) M T 186 rs1045031 Benign
62269 Q9H598 (SLC32A1) S G 423 rs34517228 Benign
62270 Q9H5F2 (C11orf1) V A 40 rs9280 Benign
62271 Q9H5F2 (C11orf1) K Q 49 rs11540721 Benign
62272 Q9H5F2 (C11orf1) Q H 85 rs3180820 Benign
62273 Q9H5H4 (ZNF768) E D 181 rs10871453 Benign
62274 Q9H5H4 (ZNF768) A S 488 rs3751848 Benign
62275 Q9H5I5 (PIEZO2) M V 712 rs587777453 Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145]
62276 Q9H5I5 (PIEZO2) I F 802 rs587777076 Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145]
62277 Q9H5I5 (PIEZO2) V I 1354 rs7234309 Benign
62278 Q9H5I5 (PIEZO2) R P 1685 rs886039823 Disease: Arthrogrypos is, distal, with impaired propriocepti on and touch (DAIPT) [MIM:617146]
62279 Q9H5I5 (PIEZO2) V I 2463 rs3748428 Benign
62280 Q9H5I5 (PIEZO2) R C 2686 rs587777451 Disease: Marden- Walker syndrome (MWKS) [MIM:248700]
62281 Q9H5I5 (PIEZO2) R H 2686 rs587777450 Disease: Arthrogrypos is, distal, 3 (DA3) [MIM:114300]
62282 Q9H5I5 (PIEZO2) R L 2718 rs587777452 Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145]
62283 Q9H5I5 (PIEZO2) R P 2718 rs587777452 Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145]
62284 Q9H5I5 (PIEZO2) S P 2739 rs587777454 Disease: Arthrogrypos is, distal, 5 (DA5) [MIM:108145]
62285 Q9H5J0 (ZBTB3) I M 574 rs544641 Benign
62286 Q9H5K3 (POMK) S P 48 rs34466747 Benign
62287 Q9H5K3 (POMK) L R 137 rs397509385 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]
62288 Q9H5K3 (POMK) Y F 140 rs34750053 Benign
62289 Q9H5K3 (POMK) V M 254 rs34715198 Benign
62290 Q9H5K3 (POMK) Q R 258 rs397509386 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]
62291 Q9H5K3 (POMK) M T 301 rs33920561 Benign
62292 Q9H5K3 (POMK) V D 302 rs199756983 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]
62293 Q9H5L6 (THAP9) M I 284 rs1031639 Benign
62294 Q9H5L6 (THAP9) L F 299 rs897945 Benign
62295 Q9H5L6 (THAP9) N D 812 rs6535411 Benign
62296 Q9H5L6 (THAP9) V I 833 rs35532215 Benign
62297 Q9H5P4 (PDZD7) G R 103 rs148695069 Disease: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
62298 Q9H5P4 (PDZD7) G R 228 rs753034799 Disease: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
62299 Q9H5P4 (PDZD7) M R 285 rs1554835827 Disease: Deafness, autosomal recessive, 57 (DFNB57) [MIM:618003]
62300 Q9H5Q4 (TFB2M) S F 48 rs148620105 Benign
62301 Q9H5Q4 (TFB2M) A T 64 rs143880306 Benign
62302 Q9H5Q4 (TFB2M) P L 156 rs11585481 Benign
62303 Q9H5Q4 (TFB2M) H Y 264 rs12037377 Benign
62304 Q9H5U6 (ZCCHC4) P L 382 rs3752873 Benign
62305 Q9H5U6 (ZCCHC4) L H 396 rs315675 Benign
62306 Q9H5V8 (CDCP1) Q R 525 rs3749191 Benign
62307 Q9H5V8 (CDCP1) A V 673 rs35428731 Benign
62308 Q9H5V8 (CDCP1) D G 709 rs9874077 Benign
62309 Q9H5Y7 (SLITRK6) L F 25 rs12863734 Benign
62310 Q9H5Y7 (SLITRK6) P R 315 rs9547378 Benign
62311 Q9H5Y7 (SLITRK6) Q R 414 rs17080147 Benign
62312 Q9H5Z1 (DHX35) I T 189 rs36053162 Benign
62313 Q9H5Z1 (DHX35) P L 703 rs3752302 Benign
62314 Q9H5Z6 (FAM124B) I T 257 rs3738954 Benign
62315 Q9H607 (OCEL1) R L 42 rs10425488 Benign
62316 Q9H607 (OCEL1) A G 109 rs891203 Benign
62317 Q9H609 (ZNF576) P L 81 rs17849705 Benign
62318 Q9H611 (PIF1) I N 640 rs17802279 Benign
62319 Q9H628 (RERGL) M V 163 rs941048 Benign
62320 Q9H633 (RPP21) Q H 77 rs6986 Benign
62321 Q9H633 (RPP21) Q K 149 rs974963 Benign
62322 Q9H649 (NSUN3) A V 295 rs17854922 Benign
62323 Q9H665 (IGFLR1) W R 189 rs34562867 Benign
62324 Q9H668 (STN1) R T 135 rs1057519583 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 2 (CRMCC2) [MIM:617341]
62325 Q9H668 (STN1) T A 151 rs2487999 Benign
62326 Q9H668 (STN1) D Y 157 rs765462548 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 2 (CRMCC2) [MIM:617341]
62327 Q9H668 (STN1) S C 248 rs10786775 Benign
62328 Q9H694 (BICC1) G D 8 rs7905025 Benign
62329 Q9H694 (BICC1) N T 711 rs138916713 Benign
62330 Q9H694 (BICC1) E G 932 rs387907124 Disease: Renal dysplasia, cystic (CYSRD) [MIM:601331]
62331 Q9H694 (BICC1) S P 943 rs4948550 Benign
62332 Q9H694 (BICC1) N S 945 rs7895817 Benign
62333 Q9H6A0 (DENND2D) S N 282 rs35742969 Benign
62334 Q9H6A9 (PCNX3) Q R 258 rs1151489 Benign
62335 Q9H6A9 (PCNX3) S C 458 rs1193851 Benign
62336 Q9H6A9 (PCNX3) G S 564 rs56232198 Benign
62337 Q9H6A9 (PCNX3) K N 813 rs1144790 Benign
62338 Q9H6A9 (PCNX3) H Q 1822 rs7114037 Benign
62339 Q9H6B4 (CLMP) R H 69 rs2276348 Benign
62340 Q9H6B4 (CLMP) V D 124 rs587776967 Disease: Congenital short bowel syndrome (CSBS) [MIM:615237]
62341 Q9H6E5 (TUT1) L F 442 rs3197865 Benign
62342 Q9H6F5 (CCDC86) Q H 153 rs2074421 Benign
62343 Q9H6I2 (SOX17) A D 33 rs189384157 Benign
62344 Q9H6I2 (SOX17) G C 178 rs267607082 Disease: Vesicoureter al reflux 3 (VUR3) [MIM:613674]
62345 Q9H6I2 (SOX17) Y N 259 rs267607083 Disease: Vesicoureter al reflux 3 (VUR3) [MIM:613674]
62346 Q9H6K4 (OPA3) G S 93 rs80356524 Disease: Optic atrophy 3 (OPA3) [MIM:165300]
62347 Q9H6K4 (OPA3) Q E 105 rs80356525 Disease: Optic atrophy 3 (OPA3) [MIM:165300]
62348 Q9H6L2 (TMEM231) L V 6 rs3743601 Benign
62349 Q9H6L2 (TMEM231) D N 209 rs200799769 Disease: Joubert syndrome 20 (JBTS20) [MIM:614970]
62350 Q9H6L2 (TMEM231) Q P 272 rs397514754 Disease: Meckel syndrome 11 (MKS11) [MIM:615397]
62351 Q9H6L5 (RETREG1) Q E 379 rs34432513 Benign
62352 Q9H6Q3 (SLA2) V M 210 rs34834764 Benign
62353 Q9H6Q4 (CIAO3) V M 38 rs8045850 Benign
62354 Q9H6Q4 (CIAO3) H R 444 rs7188554 Benign
62355 Q9H6R0 (DHX33) R C 118 rs8069315 Benign
62356 Q9H6R0 (DHX33) H D 483 rs11653658 Benign
62357 Q9H6R4 (NOL6) P S 52 rs10971523 Benign
62358 Q9H6R4 (NOL6) R W 723 rs35135082 Benign
62359 Q9H6R6 (ZDHHC6) D N 41 rs34350728 Benign
62360 Q9H6R7 (WDCP) T M 102 rs3731620 Benign
62361 Q9H6S0 (YTHDC2) S N 652 rs10071816 Benign
62362 Q9H6S0 (YTHDC2) L Q 1409 rs1132528 Benign
62363 Q9H6T0 (ESRP2) S L 111 rs12597504 Benign
62364 Q9H6T0 (ESRP2) A V 528 rs3743738 Benign
62365 Q9H6T0 (ESRP2) P S 627 rs36054935 Benign
62366 Q9H6T3 (RPAP3) D Y 564 rs11168196 Benign
62367 Q9H6U6 (BCAS3) N S 87 rs2643103 Benign
62368 Q9H6U6 (BCAS3) I V 106 rs34712615 Benign
62369 Q9H6U8 (ALG9) A P 232 rs36111204 Benign
62370 Q9H6U8 (ALG9) S L 255 rs17113312 Benign
62371 Q9H6U8 (ALG9) Y C 287 rs121908023 Disease: Congenital disorder of glycosylatio n 1L (CDG1L) [MIM:608776]
62372 Q9H6U8 (ALG9) V I 289 rs10502151 Benign
62373 Q9H6U8 (ALG9) P L 506 rs185149177 Benign
62374 Q9H6U8 (ALG9) E K 523 rs121908022 Disease: Congenital disorder of glycosylatio n 1L (CDG1L) [MIM:608776]
62375 Q9H6U8 (ALG9) I S 528 rs12575909 Benign
62376 Q9H6W3 (RIOX1) K R 17 rs10144469 Benign
62377 Q9H6W3 (RIOX1) F S 218 rs758109 Benign
62378 Q9H6W3 (RIOX1) Q H 239 rs34970526 Benign
62379 Q9H6W3 (RIOX1) V A 364 rs3813563 Benign
62380 Q9H6X2 (ANTXR1) R K 7 rs28365986 Benign
62381 Q9H6X2 (ANTXR1) A T 326 rs119475040 Benign
62382 Q9H6Y2 (WDR55) R C 50 rs34342435 Benign
62383 Q9H6Y2 (WDR55) C R 151 rs2530245 Benign
62384 Q9H6Y2 (WDR55) S F 210 rs2286394 Benign
62385 Q9H6Y2 (WDR55) Y C 235 rs35983033 Benign
62386 Q9H6Y5 (MAGIX) R H 53 rs5906744 Benign
62387 Q9H6Y5 (MAGIX) R H 112 rs5906744 Benign
62388 Q9H6Y5 (MAGIX) L V 173 rs5905720 Benign
62389 Q9H6Y5 (MAGIX) L F 323 rs4824462 Benign
62390 Q9H6Y7 (RNF167) N K 121 rs1127356 Benign
62391 Q9H6Z4 (RANBP3) A V 314 rs10417885 Benign
62392 Q9H6Z9 (EGLN3) V L 136 rs17102002 Benign
62393 Q9H6Z9 (EGLN3) S T 234 rs17101995 Benign
62394 Q9H706 (GAREM1) T N 243 rs671138 Benign
62395 Q9H706 (GAREM1) K R 291 rs3744921 Benign
62396 Q9H706 (GAREM1) A V 490 rs16962974 Benign
62397 Q9H706 (GAREM1) V I 580 rs3891458 Benign
62398 Q9H706 (GAREM1) T M 720 rs2276374 Benign
62399 Q9H707 (ZNF552) W C 242 rs2288538 Benign
62400 Q9H714 (RUBCNL) G R 152 rs1408184 Benign
62401 Q9H720 (CWH43) P T 2 rs3747690 Benign
62402 Q9H720 (CWH43) H N 689 rs1051447 Benign
62403 Q9H741 (SPRING) Q R 55 rs10507274 Benign
62404 Q9H772 (GREM2) A V 13 rs373941682 Disease: Tooth agenesis, selective, 9 (STHAG9) [MIM:617275]
62405 Q9H772 (GREM2) Q E 76 rs142343894 Disease: Tooth agenesis, selective, 9 (STHAG9) [MIM:617275]
62406 Q9H772 (GREM2) V I 131 rs34188522 Benign
62407 Q9H772 (GREM2) E D 136 rs1057519288 Disease: Tooth agenesis, selective, 9 (STHAG9) [MIM:617275]
62408 Q9H777 (ELAC1) M V 355 rs34524743 Benign
62409 Q9H788 (SH2D4A) E G 209 rs35647122 Benign
62410 Q9H788 (SH2D4A) E G 216 rs4921637 Benign
62411 Q9H788 (SH2D4A) G A 263 rs877386 Benign
62412 Q9H788 (SH2D4A) S N 275 rs34608771 Benign
62413 Q9H790 (EXO5) D N 115 rs1134586 Benign
62414 Q9H790 (EXO5) G V 172 rs11208299 Benign
62415 Q9H792 (PEAK1) G R 213 rs35459975 Benign
62416 Q9H792 (PEAK1) V I 240 rs56129428 Benign
62417 Q9H792 (PEAK1) S P 440 rs35335169 Benign
62418 Q9H792 (PEAK1) S I 792 rs34885462 Benign
62419 Q9H792 (PEAK1) D E 836 rs56388121 Benign
62420 Q9H792 (PEAK1) R K 1071 rs12909704 Benign
62421 Q9H792 (PEAK1) T P 1077 rs56133554 Benign
62422 Q9H792 (PEAK1) P Q 1408 rs56079860 Benign
62423 Q9H792 (PEAK1) S T 1542 rs1867780 Benign
62424 Q9H792 (PEAK1) R G 1699 rs34004337 Benign
62425 Q9H799 (CPLANE1) W G 322 - Benign
62426 Q9H799 (CPLANE1) S F 875 rs794727154 Benign
62427 Q9H799 (CPLANE1) S L 1127 rs375009168 Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170]
62428 Q9H799 (CPLANE1) R C 1184 rs1434631255 Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170]
62429 Q9H799 (CPLANE1) R C 1193 rs149170427 Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170]
62430 Q9H799 (CPLANE1) L R 1196 - Benign
62431 Q9H799 (CPLANE1) D H 1287 rs606231261 Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170]
62432 Q9H799 (CPLANE1) R W 1336 rs367543061 Disease: Joubert syndrome 17 (JBTS17) [MIM:614615]
62433 Q9H799 (CPLANE1) Q R 1345 rs869312898 Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170]
62434 Q9H799 (CPLANE1) I T 1437 rs6859950 Benign
62435 Q9H799 (CPLANE1) S G 1772 rs79377186 Benign
62436 Q9H799 (CPLANE1) P L 1794 rs75589774 Benign
62437 Q9H799 (CPLANE1) F C 2033 rs10076911 Benign
62438 Q9H799 (CPLANE1) F S 2033 rs10076911 Benign
62439 Q9H799 (CPLANE1) I V 2143 rs6884652 Benign
62440 Q9H799 (CPLANE1) P L 2592 rs16903518 Benign
62441 Q9H799 (CPLANE1) P S 2750 rs377107065 Benign
62442 Q9H799 (CPLANE1) V L 2837 - Disease: Orofaciodigi tal syndrome 6 (OFD6) [MIM:277170]
62443 Q9H799 (CPLANE1) G R 3062 rs7702892 Benign
62444 Q9H7B2 (RPF2) A G 41 rs9320350 Benign
62445 Q9H7B2 (RPF2) G S 60 rs6909298 Benign
62446 Q9H7B7 (C7orf69) K E 32 rs9719534 Benign
62447 Q9H7C9 (AAMDC) V M 92 rs2186564 Benign
62448 Q9H7D0 (DOCK5) Q R 250 rs17053341 Benign
62449 Q9H7D0 (DOCK5) Q R 1023 rs2271111 Benign
62450 Q9H7D0 (DOCK5) K R 1285 rs2659585 Benign
62451 Q9H7D0 (DOCK5) E K 1836 rs35688737 Benign
62452 Q9H7H0 (METTL17) A S 173 rs72661115 Benign
62453 Q9H7H0 (METTL17) G A 289 rs2297717 Benign
62454 Q9H7H0 (METTL17) A P 346 rs2771350 Benign
62455 Q9H7M9 (VSIR) D E 187 rs3747869 Benign
62456 Q9H7N4 (SCAF1) T A 895 rs3745470 Benign
62457 Q9H7N4 (SCAF1) M T 1146 rs2304208 Benign
62458 Q9H7P9 (PLEKHG2) R W 204 rs201201843 Disease: Leukodystrop hy and acquired microcephaly with or without dystonia (LDAMD) [MIM:616763]
62459 Q9H7P9 (PLEKHG2) T I 540 rs35904695 Benign
62460 Q9H7P9 (PLEKHG2) I V 622 rs16973407 Benign
62461 Q9H7P9 (PLEKHG2) R H 647 rs10407035 Benign
62462 Q9H7P9 (PLEKHG2) R K 992 rs31726 Benign
62463 Q9H7P9 (PLEKHG2) A T 1302 rs34603507 Benign
62464 Q9H7P9 (PLEKHG2) P A 1329 rs31728 Benign
62465 Q9H7R0 (ZNF442) I V 93 rs10423273 Benign
62466 Q9H7R0 (ZNF442) P T 110 rs10415207 Benign
62467 Q9H7R0 (ZNF442) G R 422 rs11085808 Benign
62468 Q9H7R0 (ZNF442) R C 443 rs10500210 Benign
62469 Q9H7R5 (ZNF665) V A 84 rs12460170 Benign
62470 Q9H7R5 (ZNF665) H R 157 rs4801959 Benign
62471 Q9H7R5 (ZNF665) V I 647 rs4801958 Benign
62472 Q9H7T0 (CATSPERB) F Y 318 rs57706558 Benign
62473 Q9H7T9 (AUNIP) K T 82 rs34449716 Benign
62474 Q9H7U1 (CCSER2) N S 84 rs3814205 Benign
62475 Q9H7U1 (CCSER2) C Y 755 rs11201058 Benign
62476 Q9H7U1 (CCSER2) S P 819 rs11557865 Benign
62477 Q9H7U1 (CCSER2) P S 821 rs12569751 Benign
62478 Q9H7V2 (SYNDIG1) G R 54 rs6083553 Benign
62479 Q9H7X0 (NAA60) H Q 218 rs34464545 Benign
62480 Q9H7Y0 (DIPK2B) R K 128 rs1132201 Benign
62481 Q9H7Y0 (DIPK2B) R Q 146 rs9969 Benign
62482 Q9H7Z3 (NRDE2) C F 32 rs7140914 Benign
62483 Q9H7Z3 (NRDE2) E K 928 rs59039343 Benign
62484 Q9H7Z3 (NRDE2) N S 1118 rs3737035 Benign
62485 Q9H7Z7 (PTGES2) R H 298 rs13283456 Benign
62486 Q9H808 (TLE6) S Y 510 rs767222404 Disease: Preimplantat ion embryonic lethality 1 (PREMBL1) [MIM:616814]
62487 Q9H814 (PHAX) R C 82 rs3734173 Benign
62488 Q9H816 (DCLRE1B) R L 46 rs28381069 Benign
62489 Q9H816 (DCLRE1B) H Y 61 rs11552449 Benign
62490 Q9H816 (DCLRE1B) D N 462 rs28381079 Benign
62491 Q9H816 (DCLRE1B) N Y 510 rs35397235 Benign
62492 Q9H845 (ACAD9) F I 44 rs387907041 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62493 Q9H845 (ACAD9) R K 127 - Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62494 Q9H845 (ACAD9) A V 220 - Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62495 Q9H845 (ACAD9) R Q 266 rs387907042 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62496 Q9H845 (ACAD9) C G 271 - Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62497 Q9H845 (ACAD9) V M 384 rs1447947184 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62498 Q9H845 (ACAD9) R C 414 rs777282696 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62499 Q9H845 (ACAD9) R C 417 rs368949613 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62500 Q9H845 (ACAD9) R W 469 rs139145143 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62501 Q9H845 (ACAD9) R Q 477 rs4494951 Benign
62502 Q9H845 (ACAD9) R H 518 rs781149699 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62503 Q9H845 (ACAD9) R W 532 rs377022708 Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62504 Q9H845 (ACAD9) L H 606 - Disease: Mitochondria l complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
62505 Q9H857 (NT5DC2) S R 91 rs35920544 Benign
62506 Q9H867 (VCPKMT) A D 63 rs11157729 Benign
62507 Q9H869 (YY1AP1) G S 412 rs35098429 Benign
62508 Q9H869 (YY1AP1) E Q 786 rs7539 Benign
62509 Q9H875 (PRKRIP1) S A 7 rs6951185 Benign
62510 Q9H875 (PRKRIP1) D Y 106 rs11556160 Benign
62511 Q9H892 (TTC12) M L 73 rs723077 Benign
62512 Q9H892 (TTC12) M L 468 rs35852218 Benign
62513 Q9H892 (TTC12) V A 563 rs35303225 Benign
62514 Q9H898 (ZMAT4) T A 201 rs17851751 Benign
62515 Q9H8E8 (KAT14) P L 214 rs6081011 Benign
62516 Q9H8E8 (KAT14) V G 400 rs1205193 Benign
62517 Q9H8E8 (KAT14) R T 442 rs2295182 Benign
62518 Q9H8E8 (KAT14) P R 600 rs11557577 Benign
62519 Q9H8E8 (KAT14) A S 738 rs6081027 Benign
62520 Q9H8G2 (CAAP1) V M 233 rs12342214 Benign
62521 Q9H8H0 (NOL11) V A 115 rs2291284 Benign
62522 Q9H8H2 (DDX31) E K 153 rs17402080 Benign
62523 Q9H8H2 (DDX31) R Q 687 rs34246652 Benign
62524 Q9H8H2 (DDX31) I V 799 rs306547 Benign
62525 Q9H8H2 (DDX31) R Q 843 rs306548 Benign
62526 Q9H8H3 (METTL7A) A T 134 rs28372674 Benign
62527 Q9H8J5 (MANSC1) V I 55 rs3741798 Benign
62528 Q9H8J5 (MANSC1) L V 141 rs34668262 Benign
62529 Q9H8J5 (MANSC1) D N 165 rs17375215 Benign
62530 Q9H8J5 (MANSC1) N Y 375 rs3741803 Benign
62531 Q9H8L6 (MMRN2) G S 49 rs3750823 Benign
62532 Q9H8L6 (MMRN2) H D 731 rs4934281 Benign
62533 Q9H8L6 (MMRN2) S R 831 rs36073867 Benign
62534 Q9H8L6 (MMRN2) V L 910 rs34587013 Benign
62535 Q9H8M1 (COQ10B) L F 48 rs34946819 Benign
62536 Q9H8M2 (BRD9) A T 170 rs34292369 Benign
62537 Q9H8M2 (BRD9) A T 266 rs34292369 Benign
62538 Q9H8M2 (BRD9) A T 389 rs414349 Benign
62539 Q9H8M5 (CNNM2) R Q 38 rs76057237 Benign
62540 Q9H8M5 (CNNM2) E K 122 rs786205909 Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
62541 Q9H8M5 (CNNM2) S W 269 rs794726858 Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
62542 Q9H8M5 (CNNM2) L F 330 - Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
62543 Q9H8M5 (CNNM2) E K 357 rs786205910 Disease: Hypomagnesem ia, seizures, and mental retardation 1 (HOMGSMR1) [MIM:616418]
62544 Q9H8M5 (CNNM2) T I 568 rs387906975 Disease: Hypomagnesem ia 6 (HOMG6) [MIM:613882]
62545 Q9H8M9 (EVA1A) R H 150 rs11126472 Benign
62546 Q9H8V3 (ECT2) S T 15 rs34703432 Benign
62547 Q9H8W5 (TRIM45) R Q 353 rs34863850 Benign
62548 Q9H8W5 (TRIM45) C Y 375 rs749902 Benign
62549 Q9H8W5 (TRIM45) R Q 413 rs3738413 Benign
62550 Q9H8W5 (TRIM45) M T 496 rs1289658 Benign
62551 Q9H8X2 (IPPK) R W 277 rs2277168 Benign
62552 Q9H8X2 (IPPK) L F 376 rs2277170 Benign
62553 Q9H8X3 (LINC00574) S C 27 rs6926145 Benign
62554 Q9H8X3 (LINC00574) W R 91 rs1078211 Benign
62555 Q9H8X3 (LINC00574) K R 119 rs1078208 Benign
62556 Q9H8X9 (ZDHHC11) L S 325 rs2878468 Benign
62557 Q9H8X9 (ZDHHC11) R Q 341 rs1809008 Benign
62558 Q9H8X9 (ZDHHC11) R H 372 rs3747738 Benign
62559 Q9H8Y1 (VRTN) L F 53 rs2232032 Benign
62560 Q9H8Y5 (ANKZF1) R W 569 rs2293076 Benign
62561 Q9H8Y5 (ANKZF1) Q P 638 - Benign
62562 Q9H8Y5 (ANKZF1) P L 676 rs2293079 Benign
62563 Q9H8Y8 (GORASP2) S F 432 rs3770436 Benign
62564 Q9H900 (ZWILCH) S G 344 rs11071896 Benign
62565 Q9H902 (REEP1) P L 19 - Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
62566 Q9H902 (REEP1) P R 19 rs1060503496 Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
62567 Q9H902 (REEP1) A E 20 rs121918262 Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
62568 Q9H902 (REEP1) S F 23 - Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
62569 Q9H902 (REEP1) W R 42 - Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
62570 Q9H902 (REEP1) L P 107 - Disease: Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]
62571 Q9H930 (SP140L) M T 88 rs4973318 Benign
62572 Q9H930 (SP140L) T M 225 rs28497362 Benign
62573 Q9H930 (SP140L) P S 377 rs7590429 Benign
62574 Q9H936 (SLC25A22) P L 206 rs121918334 Disease: Epileptic encephalopat hy, early infantile, 3 (EIEE3) [MIM:609304]
62575 Q9H939 (PSTPIP2) N D 322 rs2276199 Benign
62576 Q9H939 (PSTPIP2) N S 322 rs16978507 Benign
62577 Q9H967 (WDR76) S A 153 rs678084 Benign
62578 Q9H967 (WDR76) S G 614 rs3742985 Benign
62579 Q9H972 (C14orf93) A V 190 rs3829409 Benign
62580 Q9H981 (ACTR8) T I 56 rs3733082 Benign
62581 Q9H987 (SYNPO2L) P H 508 rs57006992 Benign
62582 Q9H987 (SYNPO2L) P L 707 rs3812629 Benign
62583 Q9H987 (SYNPO2L) S Y 833 rs34163229 Benign
62584 Q9H992 (MARCHF7) T S 100 rs17813964 Benign
62585 Q9H992 (MARCHF7) T I 193 rs16844275 Benign
62586 Q9H992 (MARCHF7) G S 379 rs13024801 Benign
62587 Q9H993 (ARMT1) K N 73 rs35036943 Benign
62588 Q9H993 (ARMT1) P R 77 rs17850732 Benign
62589 Q9H993 (ARMT1) G E 150 rs35734927 Benign
62590 Q9H993 (ARMT1) S A 154 rs34437617 Benign
62591 Q9H993 (ARMT1) H P 161 rs36037706 Benign
62592 Q9H993 (ARMT1) I V 264 rs35989216 Benign
62593 Q9H993 (ARMT1) A T 317 rs35972078 Benign
62594 Q9H9A5 (CNOT10) T S 348 rs11558687 Benign
62595 Q9H9A5 (CNOT10) P S 736 rs17849684 Benign
62596 Q9H9A6 (LRRC40) Q P 53 rs270495 Benign
62597 Q9H9A6 (LRRC40) I V 500 rs3180401 Benign
62598 Q9H9A7 (RMI1) Y H 100 rs17855932 Benign
62599 Q9H9A7 (RMI1) N S 455 rs1982151 Benign
62600 Q9H9B1 (EHMT1) A T 388 rs11137198 Benign
62601 Q9H9B1 (EHMT1) C Y 1075 - Disease: Kleefstra syndrome 1 (KLEFS1) [MIM:610253]
62602 Q9H9B4 (SFXN1) N S 26 rs17065105 Benign
62603 Q9H9B4 (SFXN1) P S 266 rs34907038 Benign
62604 Q9H9D4 (ZNF408) R P 337 rs36017347 Benign
62605 Q9H9D4 (ZNF408) H Y 455 rs373273223 Disease: Vitreoretino pathy, exudative 6 (EVR6) [MIM:616468]
62606 Q9H9D4 (ZNF408) G R 492 rs561740128 Benign
62607 Q9H9D4 (ZNF408) R C 541 rs781192528 Disease: Retinitis pigmentosa 72 (RP72) [MIM:616469]
62608 Q9H9D4 (ZNF408) Q K 583 - Benign
62609 Q9H9E3 (COG4) T I 158 rs3931036 Benign
62610 Q9H9E3 (COG4) G R 512 rs1555575860 Disease: Saul-Wilson syndrome (SWILS) [MIM:618150]
62611 Q9H9E3 (COG4) R W 729 - Disease: Congenital disorder of glycosylatio n 2J (CDG2J) [MIM:613489]
62612 Q9H9F9 (ACTR5) R L 298 rs17853829 Benign
62613 Q9H9F9 (ACTR5) I L 461 rs35805905 Benign
62614 Q9H9F9 (ACTR5) I V 483 rs2245231 Benign
62615 Q9H9F9 (ACTR5) P L 580 rs3752289 Benign
62616 Q9H9J2 (MRPL44) T I 138 rs11546406 Benign
62617 Q9H9J2 (MRPL44) L R 156 rs143697995 Disease: Combined oxidative phosphorylat ion deficiency 16 (COXPD16) [MIM:615395]
62618 Q9H9J4 (USP42) L P 1030 rs6463529 Benign
62619 Q9H9L3 (ISG20L2) N S 130 rs3795737 Benign
62620 Q9H9L4 (KANSL2) N S 313 rs17238800 Benign
62621 Q9H9L4 (KANSL2) P T 445 rs3741628 Benign
62622 Q9H9P8 (L2HGDH) L R 18 rs2275591 Benign
62623 Q9H9P8 (L2HGDH) R S 33 rs35710558 Benign
62624 Q9H9P8 (L2HGDH) G D 55 rs118204021 Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62625 Q9H9P8 (L2HGDH) G R 57 rs199690954 Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62626 Q9H9P8 (L2HGDH) K E 81 rs970541687 Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62627 Q9H9P8 (L2HGDH) H R 98 rs267607206 Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62628 Q9H9P8 (L2HGDH) H Y 98 - Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62629 Q9H9P8 (L2HGDH) E D 176 - Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62630 Q9H9P8 (L2HGDH) Y F 178 rs770542189 Benign
62631 Q9H9P8 (L2HGDH) P L 302 rs118204020 Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62632 Q9H9P8 (L2HGDH) H P 434 rs750044734 Disease: L-2-hydroxyg lutaric aciduria (L2HGA) [MIM:236792]
62633 Q9H9Q4 (NHEJ1) A T 14 rs34689457 Benign
62634 Q9H9Q4 (NHEJ1) R G 57 rs118204451 Disease: Severe combined immunodefici ency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
62635 Q9H9Q4 (NHEJ1) H R 89 rs1056296 Benign
62636 Q9H9Q4 (NHEJ1) C R 123 rs118204452 Disease: Severe combined immunodefici ency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
62637 Q9H9Q4 (NHEJ1) Q L 256 rs35270667 Benign
62638 Q9H9S0 (NANOG) K N 82 rs2889551 Benign
62639 Q9H9S5 (FKRP) R W 54 rs28937905 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62640 Q9H9S5 (FKRP) V M 79 rs104894683 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62641 Q9H9S5 (FKRP) R W 134 rs104894690 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62642 Q9H9S5 (FKRP) R S 143 rs148206382 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62643 Q9H9S5 (FKRP) V F 160 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62644 Q9H9S5 (FKRP) Y C 182 rs543163491 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62645 Q9H9S5 (FKRP) P T 217 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62646 Q9H9S5 (FKRP) S R 221 rs28937902 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62647 Q9H9S5 (FKRP) L I 276 rs28937900 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62648 Q9H9S5 (FKRP) T I 293 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62649 Q9H9S5 (FKRP) V A 300 rs104894691 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62650 Q9H9S5 (FKRP) V M 300 rs563033008 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62651 Q9H9S5 (FKRP) Y N 307 rs104894692 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62652 Q9H9S5 (FKRP) Y C 309 rs104894679 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62653 Q9H9S5 (FKRP) R C 312 - Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62654 Q9H9S5 (FKRP) T M 314 rs398124395 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62655 Q9H9S5 (FKRP) P T 315 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62656 Q9H9S5 (FKRP) P R 316 rs752582904 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62657 Q9H9S5 (FKRP) P S 316 rs28937901 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62658 Q9H9S5 (FKRP) C Y 318 rs104894684 Disease: Muscular dystrophy-dy stroglycanop athy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]
62659 Q9H9S5 (FKRP) Y S 328 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62660 Q9H9S5 (FKRP) R H 339 - Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62661 Q9H9S5 (FKRP) R L 339 rs1450841129 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62662 Q9H9S5 (FKRP) P L 358 rs143031195 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62663 Q9H9S5 (FKRP) D N 360 rs770195088 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62664 Q9H9S5 (FKRP) D N 401 rs1555739117 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62665 Q9H9S5 (FKRP) V L 405 rs28937904 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62666 Q9H9S5 (FKRP) P L 448 rs104894681 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62667 Q9H9S5 (FKRP) A D 455 rs28937903 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62668 Q9H9S5 (FKRP) P S 462 rs768606230 Disease: Muscular dystrophy-dy stroglycanop athy limb-girdle C5 (MDDGC5) [MIM:607155]
62669 Q9H9S5 (FKRP) N D 463 rs121908110 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62670 Q9H9S5 (FKRP) Y S 465 rs1057520772 Disease: Muscular dystrophy-dy stroglycanop athy congenital with or without mental retardation B5 (MDDGB5) [MIM:606612]
62671 Q9H9V9 (JMJD4) A V 11 rs7419238 Benign
62672 Q9H9V9 (JMJD4) G C 16 rs34560898 Benign
62673 Q9H9V9 (JMJD4) D E 65 rs2295994 Benign
62674 Q9H9V9 (JMJD4) A V 461 rs3087908 Benign
62675 Q9H9Y2 (RPF1) S G 9 rs2292191 Benign
62676 Q9H9Y2 (RPF1) M I 223 rs7528067 Benign
62677 Q9H9Y4 (GPN2) Q R 227 rs17856257 Benign
62678 Q9H9Y4 (GPN2) R G 264 rs3170660 Benign
62679 Q9H9Y6 (POLR1B) S L 295 rs1545133 Benign
62680 Q9H9Y6 (POLR1B) H R 887 - Benign
62681 Q9HA64 (FN3KRP) A V 57 rs3748811 Benign
62682 Q9HA65 (TBC1D17) D G 84 rs8109661 Benign
62683 Q9HA65 (TBC1D17) L P 99 rs3745486 Benign
62684 Q9HA72 (CALHM2) V G 136 rs2232660 Benign
62685 Q9HA72 (CALHM2) V M 194 rs2232662 Benign
62686 Q9HA77 (CARS2) P L 251 rs557671802 Disease: Combined oxidative phosphorylat ion deficiency 27 (COXPD27) [MIM:616672]
62687 Q9HA77 (CARS2) E K 440 rs965189 Benign
62688 Q9HA77 (CARS2) Q P 555 rs1043886 Benign
62689 Q9HA82 (CERS4) R Q 119 rs17159388 Benign
62690 Q9HA82 (CERS4) G S 301 rs2288413 Benign
62691 Q9HA82 (CERS4) A V 353 rs17160348 Benign
62692 Q9HA82 (CERS4) A T 366 rs36259 Benign
62693 Q9HA82 (CERS4) R Q 379 rs17160349 Benign
62694 Q9HA90 (EFCC1) R Q 528 rs3732430 Benign
62695 Q9HA92 (RSAD1) A T 119 rs2290862 Benign
62696 Q9HA92 (RSAD1) L S 126 rs2290861 Benign
62697 Q9HA92 (RSAD1) E Q 354 rs9891176 Benign
62698 Q9HAB3 (SLC52A2) W S 31 rs797045199 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62699 Q9HAB3 (SLC52A2) S F 52 rs397514657 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62700 Q9HAB3 (SLC52A2) L P 123 rs397514538 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62701 Q9HAB3 (SLC52A2) P T 141 rs377740960 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62702 Q9HAB3 (SLC52A2) A D 284 rs398123067 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62703 Q9HAB3 (SLC52A2) Y C 305 rs398123068 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62704 Q9HAB3 (SLC52A2) G R 306 rs398124641 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62705 Q9HAB3 (SLC52A2) L P 312 rs754320812 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62706 Q9HAB3 (SLC52A2) L P 339 rs148234606 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62707 Q9HAB3 (SLC52A2) G S 419 rs397514658 Disease: Brown- Vialetto-Van Laere syndrome 2 (BVVLS2) [MIM:614707]
62708 Q9HAB8 (PPCS) A P 180 - Disease: Cardiomyopat hy, dilated 2C (CMD2C) [MIM:618189]
62709 Q9HAB8 (PPCS) E V 233 - Disease: Cardiomyopat hy, dilated 2C (CMD2C) [MIM:618189]
62710 Q9HAC7 (SUGCT) R W 336 rs137852860 Disease: Glutaric aciduria 3 (GA3) [MIM:231690]
62711 Q9HAD4 (WDR41) G D 61 rs389319 Benign
62712 Q9HAD4 (WDR41) R C 260 rs17751013 Benign
62713 Q9HAD4 (WDR41) V I 329 rs33204 Benign
62714 Q9HAH1 (ZNF556) R C 137 rs10421121 Benign
62715 Q9HAH1 (ZNF556) R L 146 rs35499960 Benign
62716 Q9HAH1 (ZNF556) A T 353 rs35296337 Benign
62717 Q9HAH1 (ZNF556) E K 428 rs35494032 Benign
62718 Q9HAK2 (EBF2) G S 559 rs17054477 Benign
62719 Q9HAN9 (NMNAT1) V M 9 rs387907294 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62720 Q9HAN9 (NMNAT1) A T 13 rs138613460 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62721 Q9HAN9 (NMNAT1) I N 20 rs761948762 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62722 Q9HAN9 (NMNAT1) D G 33 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62723 Q9HAN9 (NMNAT1) M T 35 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62724 Q9HAN9 (NMNAT1) A V 54 rs760965874 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62725 Q9HAN9 (NMNAT1) R W 66 rs763325435 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62726 Q9HAN9 (NMNAT1) V F 67 rs756903689 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62727 Q9HAN9 (NMNAT1) M V 69 rs372066126 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62728 Q9HAN9 (NMNAT1) L H 72 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62729 Q9HAN9 (NMNAT1) V G 98 rs771336246 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62730 Q9HAN9 (NMNAT1) A P 147 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62731 Q9HAN9 (NMNAT1) V F 151 rs387907292 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62732 Q9HAN9 (NMNAT1) L P 153 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62733 Q9HAN9 (NMNAT1) L V 153 rs387907293 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62734 Q9HAN9 (NMNAT1) G R 156 rs1244511644 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62735 Q9HAN9 (NMNAT1) D G 173 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62736 Q9HAN9 (NMNAT1) V M 178 rs757724544 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62737 Q9HAN9 (NMNAT1) Y C 181 rs748913297 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62738 Q9HAN9 (NMNAT1) I M 184 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62739 Q9HAN9 (NMNAT1) R W 207 rs142968179 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62740 Q9HAN9 (NMNAT1) I N 217 - Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62741 Q9HAN9 (NMNAT1) R C 237 rs375110174 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62742 Q9HAN9 (NMNAT1) R L 237 rs368062092 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62743 Q9HAN9 (NMNAT1) L S 239 rs778606847 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62744 Q9HAN9 (NMNAT1) H P 251 rs1208495291 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62745 Q9HAN9 (NMNAT1) E K 257 rs150726175 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62746 Q9HAN9 (NMNAT1) N D 273 rs387907291 Disease: Leber congenital amaurosis 9 (LCA9) [MIM:608553]
62747 Q9HAP2 (MLXIP) E G 396 rs7978353 Benign
62748 Q9HAP2 (MLXIP) V L 539 rs34702867 Benign
62749 Q9HAQ2 (KIF9) V I 78 rs2270569 Benign
62750 Q9HAQ2 (KIF9) G A 96 rs3733092 Benign
62751 Q9HAQ2 (KIF9) R W 638 rs2276853 Benign
62752 Q9HAR2 (ADGRL3) A S 247 - Benign
62753 Q9HAR2 (ADGRL3) R Q 465 rs35106420 Benign
62754 Q9HAR2 (ADGRL3) T M 770 - Benign
62755 Q9HAR2 (ADGRL3) L V 915 - Benign
62756 Q9HAS3 (SLC28A3) R K 4 rs11568401 Benign
62757 Q9HAS3 (SLC28A3) S N 5 rs11568403 Benign
62758 Q9HAS3 (SLC28A3) D H 62 rs45621433 Benign
62759 Q9HAS3 (SLC28A3) R K 67 rs11568411 Benign
62760 Q9HAS3 (SLC28A3) Y C 113 rs10868138 Benign
62761 Q9HAS3 (SLC28A3) L F 131 - Benign
62762 Q9HAS3 (SLC28A3) P Q 221 rs11140503 Benign
62763 Q9HAS3 (SLC28A3) I V 328 rs11568418 Benign
62764 Q9HAS3 (SLC28A3) R Q 349 rs45525131 Benign
62765 Q9HAS3 (SLC28A3) A T 366 rs140138960 Benign
62766 Q9HAS3 (SLC28A3) G R 367 rs11568388 Benign
62767 Q9HAS3 (SLC28A3) L I 418 rs11568405 Benign
62768 Q9HAS3 (SLC28A3) Y F 513 rs56350726 Benign
62769 Q9HAS3 (SLC28A3) R H 585 rs11568398 Benign
62770 Q9HAT1 (LMAN1L) R Q 105 rs3803568 Benign
62771 Q9HAT1 (LMAN1L) R S 517 rs1060480 Benign
62772 Q9HAT2 (SIAE) A G 3 rs144571829 Benign
62773 Q9HAT2 (SIAE) N S 33 rs762824510 Benign
62774 Q9HAT2 (SIAE) R H 62 rs377634657 Benign
62775 Q9HAT2 (SIAE) G S 64 rs76655561 Benign
62776 Q9HAT2 (SIAE) K R 71 rs12282107 Benign
62777 Q9HAT2 (SIAE) M V 89 rs78778622 Benign
62778 Q9HAT2 (SIAE) Q K 161 rs200739060 Benign
62779 Q9HAT2 (SIAE) C F 196 rs143070599 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62780 Q9HAT2 (SIAE) G R 212 rs149466359 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62781 Q9HAT2 (SIAE) R W 230 rs200862001 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62782 Q9HAT2 (SIAE) C G 266 rs746914032 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62783 Q9HAT2 (SIAE) Q P 309 rs757586703 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62784 Q9HAT2 (SIAE) T M 312 rs144510878 Benign
62785 Q9HAT2 (SIAE) R H 314 rs147649509 Benign
62786 Q9HAT2 (SIAE) Y C 349 rs749579541 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62787 Q9HAT2 (SIAE) R H 393 rs552372846 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62788 Q9HAT2 (SIAE) K N 400 rs766047951 Benign
62789 Q9HAT2 (SIAE) F S 404 rs201877149 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62790 Q9HAT2 (SIAE) H R 447 rs147161431 Benign
62791 Q9HAT2 (SIAE) Q R 462 rs143668140 Benign
62792 Q9HAT2 (SIAE) A V 467 rs7941523 Benign
62793 Q9HAT2 (SIAE) R C 479 rs376857712 Disease: Autoimmune disease 6 (AIS6) [MIM:613551]
62794 Q9HAU5 (UPF2) N S 496 rs7079388 Benign
62795 Q9HAV0 (GNB4) G D 53 rs387907340 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]
62796 Q9HAV0 (GNB4) K E 89 rs387907341 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]
62797 Q9HAV4 (XPO5) S N 241 rs34324334 Benign
62798 Q9HAV4 (XPO5) K N 610 rs12173786 Benign
62799 Q9HAV5 (EDA2R) R K 57 rs1385699 Benign
62800 Q9HAV5 (EDA2R) T A 129 rs1385698 Benign
62801 Q9HAW4 (CLSPN) N S 525 rs7537203 Benign
62802 Q9HAW4 (CLSPN) P T 892 rs34390044 Benign
62803 Q9HAW4 (CLSPN) S L 1280 rs35490896 Benign
62804 Q9HAW7 (UGT1A7) N K 129 rs17868323 Benign
62805 Q9HAW7 (UGT1A7) R K 131 rs386656364 Benign
62806 Q9HAW7 (UGT1A7) R Q 131 rs17868324 Benign
62807 Q9HAW7 (UGT1A7) W R 208 rs11692021 Benign
62808 Q9HAW8 (UGT1A10) M I 59 rs56935833 Benign
62809 Q9HAW8 (UGT1A10) E K 139 rs10187694 Benign
62810 Q9HAW8 (UGT1A10) T I 202 rs58704432 Benign
62811 Q9HAW8 (UGT1A10) L I 244 rs28969685 Benign
62812 Q9HAW9 (UGT1A8) H N 53 rs45504099 Benign
62813 Q9HAW9 (UGT1A8) K R 132 - Benign
62814 Q9HAW9 (UGT1A8) A V 144 rs17862841 Benign
62815 Q9HAW9 (UGT1A8) G A 154 - Benign
62816 Q9HAW9 (UGT1A8) A G 173 rs1042597 Benign
62817 Q9HAW9 (UGT1A8) A V 173 rs1042597 Benign
62818 Q9HAW9 (UGT1A8) T A 202 - Benign
62819 Q9HAW9 (UGT1A8) M L 212 rs1126803 Benign
62820 Q9HAW9 (UGT1A8) A T 231 rs72551325 Benign
62821 Q9HAW9 (UGT1A8) C Y 277 rs17863762 Benign
62822 Q9HAY2 (MAGEF1) K R 93 rs34540780 Benign
62823 Q9HAY6 (BCO1) T M 170 rs119478057 Disease: Hypercaroten emia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300]
62824 Q9HAY6 (BCO1) R S 267 rs12934922 Benign
62825 Q9HAY6 (BCO1) A V 379 rs7501331 Benign
62826 Q9HAZ1 (CLK4) L F 352 rs35272416 Benign
62827 Q9HAZ1 (CLK4) I V 363 rs55746655 Benign
62828 Q9HAZ2 (PRDM16) S P 533 rs870124 Benign
62829 Q9HAZ2 (PRDM16) P L 633 rs2493292 Benign
62830 Q9HAZ2 (PRDM16) N S 816 rs397514743 Disease: Left ventricular non- compaction 8 (LVNC8) [MIM:615373]
62831 Q9HAZ2 (PRDM16) V M 1101 rs201654872 Benign
62832 Q9HB07 (MYG1) T I 349 rs1534282 Benign
62833 Q9HB09 (BCL2L12) G V 47 rs2060263 Benign
62834 Q9HB14 (KCNK13) G R 305 rs3814848 Benign
62835 Q9HB14 (KCNK13) G A 389 rs35909577 Benign
62836 Q9HB19 (PLEKHA2) I N 186 rs59439576 Benign
62837 Q9HB21 (PLEKHA1) T A 320 rs1045216 Benign
62838 Q9HB29 (IL1RL2) I T 237 rs13405631 Benign
62839 Q9HB29 (IL1RL2) V I 352 rs33946385 Benign
62840 Q9HB29 (IL1RL2) L P 550 rs2302612 Benign
62841 Q9HB31 (SEBOX) L S 181 rs9910163 Benign
62842 Q9HB40 (SCPEP1) L V 3 rs34108204 Benign
62843 Q9HB40 (SCPEP1) V I 241 rs16957938 Benign
62844 Q9HB55 (CYP3A43) T A 27 rs45558032 Benign
62845 Q9HB55 (CYP3A43) M I 145 rs45450092 Benign
62846 Q9HB55 (CYP3A43) M I 275 rs45621431 Benign
62847 Q9HB55 (CYP3A43) P A 340 rs680055 Benign
62848 Q9HB58 (SP110) W R 112 rs1129411 Benign
62849 Q9HB58 (SP110) A V 128 rs11556887 Benign
62850 Q9HB58 (SP110) S L 173 rs41552315 Benign
62851 Q9HB58 (SP110) A V 206 rs28930679 Benign
62852 Q9HB58 (SP110) E K 207 rs9061 Benign
62853 Q9HB58 (SP110) S A 210 rs1063154 Benign
62854 Q9HB58 (SP110) E G 212 rs1047254 Benign
62855 Q9HB58 (SP110) M V 249 rs3769838 Benign
62856 Q9HB58 (SP110) E G 267 rs1129425 Benign
62857 Q9HB58 (SP110) G R 299 rs1365776 Benign
62858 Q9HB58 (SP110) T M 367 rs59573011 Benign
62859 Q9HB58 (SP110) L S 425 rs3948464 Benign
62860 Q9HB58 (SP110) M T 523 rs1135791 Benign
62861 Q9HB58 (SP110) M I 579 rs3948463 Benign
62862 Q9HB63 (NTN4) Y H 205 rs17288108 Benign
62863 Q9HB65 (ELL3) Q E 11 rs2277531 Benign
62864 Q9HB65 (ELL3) W R 140 rs35454865 Benign
62865 Q9HB75 (PIDD1) Q R 331 rs10902221 Benign
62866 Q9HB96 (FANCE) R L 89 rs45600543 Benign
62867 Q9HB96 (FANCE) S L 204 rs7761870 Benign
62868 Q9HB96 (FANCE) G R 340 rs45524646 Benign
62869 Q9HB96 (FANCE) R Q 343 rs45467798 Benign
62870 Q9HB96 (FANCE) A T 502 rs9462088 Benign
62871 Q9HBA0 (TRPV4) P S 19 rs3742030 Benign
62872 Q9HBA0 (TRPV4) T I 89 rs397514473 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62873 Q9HBA0 (TRPV4) P R 97 rs876661124 Disease: Neuronopathy , distal hereditary motor, 8 (HMN8) [MIM:600175]
62874 Q9HBA0 (TRPV4) E K 183 rs387906324 Benign
62875 Q9HBA0 (TRPV4) K R 197 rs387906903 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62876 Q9HBA0 (TRPV4) L F 199 rs515726167 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62877 Q9HBA0 (TRPV4) R C 232 rs387906904 Disease: Neuronopathy , distal hereditary motor, 8 (HMN8) [MIM:600175]
62878 Q9HBA0 (TRPV4) R C 269 rs267607146 Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071]
62879 Q9HBA0 (TRPV4) R H 269 rs267607144 Disease: Neuronopathy , distal hereditary motor, 8 (HMN8) [MIM:600175]
62880 Q9HBA0 (TRPV4) G V 270 rs387907220 Disease: Digital arthropathy- brachydactyl y, familial (FDAB) [MIM:606835]
62881 Q9HBA0 (TRPV4) R P 271 rs387907219 Disease: Digital arthropathy- brachydactyl y, familial (FDAB) [MIM:606835]
62882 Q9HBA0 (TRPV4) F L 273 rs515726170 Disease: Digital arthropathy- brachydactyl y, familial (FDAB) [MIM:606835]
62883 Q9HBA0 (TRPV4) E K 278 rs267607148 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62884 Q9HBA0 (TRPV4) T A 295 rs515726171 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62885 Q9HBA0 (TRPV4) R W 315 rs267607143 Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071]
62886 Q9HBA0 (TRPV4) R C 316 rs267607145 Disease: Scapuloperon eal spinal muscular atrophy (SPSMA) [MIM:181405]
62887 Q9HBA0 (TRPV4) R H 316 rs387906905 Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071]
62888 Q9HBA0 (TRPV4) I F 331 rs121912636 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62889 Q9HBA0 (TRPV4) I T 331 rs515726172 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62890 Q9HBA0 (TRPV4) D G 333 rs121912634 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62891 Q9HBA0 (TRPV4) V F 342 rs515726152 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62892 Q9HBA0 (TRPV4) S Y 542 rs387906902 Disease: Charcot- Marie-Tooth disease 2C (CMT2C) [MIM:606071]
62893 Q9HBA0 (TRPV4) F L 592 rs515726158 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62894 Q9HBA0 (TRPV4) R H 594 rs77975504 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62895 Q9HBA0 (TRPV4) L P 596 rs515726159 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62896 Q9HBA0 (TRPV4) G W 600 rs515726160 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62897 Q9HBA0 (TRPV4) Y C 602 rs267607150 Benign
62898 Q9HBA0 (TRPV4) I M 604 rs515726161 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62899 Q9HBA0 (TRPV4) R Q 616 rs121912632 Disease: Brachyolmia 3 (BCYM3) [MIM:113500]
62900 Q9HBA0 (TRPV4) F L 617 rs515726162 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62901 Q9HBA0 (TRPV4) L P 618 rs515726163 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62902 Q9HBA0 (TRPV4) V I 620 rs121912633 Disease: Brachyolmia 3 (BCYM3) [MIM:113500]
62903 Q9HBA0 (TRPV4) M I 625 rs515726164 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62904 Q9HBA0 (TRPV4) L M 709 rs116571438 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62905 Q9HBA0 (TRPV4) A S 716 rs121912635 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62906 Q9HBA0 (TRPV4) R K 775 - Disease: Metatropic dysplasia (MTD) [MIM:156530]
62907 Q9HBA0 (TRPV4) C Y 777 rs515726165 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62908 Q9HBA0 (TRPV4) E K 797 rs267607149 Disease: Spondylometa physeal dysplasia Kozlowski type (SMDK) [MIM:184252]
62909 Q9HBA0 (TRPV4) P A 799 rs267607147 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62910 Q9HBA0 (TRPV4) P L 799 rs121912637 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62911 Q9HBA0 (TRPV4) P R 799 rs121912637 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62912 Q9HBA0 (TRPV4) P S 799 rs267607147 Disease: Metatropic dysplasia (MTD) [MIM:156530]
62913 Q9HBA9 (FOLH1B) N K 151 rs10830339 Benign
62914 Q9HBB8 (CDHR5) Q P 165 rs2740374 Benign
62915 Q9HBB8 (CDHR5) R S 357 rs2246614 Benign
62916 Q9HBB8 (CDHR5) D N 389 rs2306066 Benign
62917 Q9HBB8 (CDHR5) P S 521 rs2740375 Benign
62918 Q9HBB8 (CDHR5) C S 702 rs2740379 Benign
62919 Q9HBE1 (PATZ1) E D 685 rs2240424 Benign
62920 Q9HBE4 (IL21) L P 56 - Disease: Immunodefici ency, common variable, 11 (CVID11) [MIM:615767]
62921 Q9HBE5 (IL21R) R C 191 rs3093370 Benign
62922 Q9HBE5 (IL21R) R L 201 rs397514685 Disease: Immunodefici ency 56 (IMD56) [MIM:615207]
62923 Q9HBE5 (IL21R) S R 318 rs3093385 Benign
62924 Q9HBE5 (IL21R) G S 484 rs3093386 Benign
62925 Q9HBF5 (ST20) P L 57 rs7257 Benign
62926 Q9HBG4 (ATP6V0A4) V A 2 rs10258719 Benign
62927 Q9HBG4 (ATP6V0A4) G D 175 - Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
62928 Q9HBG4 (ATP6V0A4) R H 449 rs1443883930 Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
62929 Q9HBG4 (ATP6V0A4) P L 524 rs121908368 Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
62930 Q9HBG4 (ATP6V0A4) F L 554 rs1026435 Benign
62931 Q9HBG4 (ATP6V0A4) M T 580 rs3807153 Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
62932 Q9HBG4 (ATP6V0A4) H Q 604 rs3807154 Benign
62933 Q9HBG4 (ATP6V0A4) R Q 807 rs28939081 Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
62934 Q9HBG4 (ATP6V0A4) G R 820 rs267606671 Disease: Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]
62935 Q9HBG6 (IFT122) W C 7 rs267607193 Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330]
62936 Q9HBG6 (IFT122) S F 322 rs267607192 Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330]
62937 Q9HBG6 (IFT122) G R 495 rs397515568 Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330]
62938 Q9HBG6 (IFT122) V G 502 rs267607191 Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330]
62939 Q9HBG6 (IFT122) G V 572 rs786205566 Disease: Cranioectode rmal dysplasia 1 (CED1) [MIM:218330]
62940 Q9HBG7 (LY9) M V 602 rs509749 Benign
62941 Q9HBH1 (PDF) W R 11 rs8057004 Benign
62942 Q9HBH7 (BEX1) V L 9 rs3174500 Benign
62943 Q9HBH7 (BEX1) S N 11 rs1045058 Benign
62944 Q9HBH7 (BEX1) S I 13 rs1045061 Benign
62945 Q9HBH7 (BEX1) M V 14 rs1045063 Benign
62946 Q9HBH7 (BEX1) A V 17 rs1045065 Benign
62947 Q9HBH7 (BEX1) A V 40 rs709036 Benign
62948 Q9HBH7 (BEX1) M I 66 rs1045082 Benign
62949 Q9HBH9 (MKNK2) Q K 10 rs3746101 Benign
62950 Q9HBH9 (MKNK2) D N 73 rs56158214 Benign
62951 Q9HBH9 (MKNK2) R Q 428 rs34475638 Benign
62952 Q9HBI1 (PARVB) P R 52 rs34476853 Benign
62953 Q9HBI1 (PARVB) V A 58 rs1983609 Benign
62954 Q9HBI6 (CYP4F11) R C 146 rs57519667 Benign
62955 Q9HBI6 (CYP4F11) C R 276 rs8104361 Benign
62956 Q9HBI6 (CYP4F11) D N 446 rs1060463 Benign
62957 Q9HBJ7 (USP29) N S 368 rs1027392 Benign
62958 Q9HBJ7 (USP29) E K 586 rs3795003 Benign
62959 Q9HBK9 (AS3MT) R W 173 rs35232887 Benign
62960 Q9HBK9 (AS3MT) M T 287 rs11191439 Benign
62961 Q9HBK9 (AS3MT) T I 306 rs34556438 Benign
62962 Q9HBL0 (TNS1) I M 311 rs11680854 Benign
62963 Q9HBL0 (TNS1) R C 466 rs3815849 Benign
62964 Q9HBL0 (TNS1) T I 528 rs3796033 Benign
62965 Q9HBL0 (TNS1) R W 1004 rs3796028 Benign
62966 Q9HBL0 (TNS1) W R 1197 rs2571445 Benign
62967 Q9HBL0 (TNS1) V I 1604 rs918949 Benign
62968 Q9HBL6 (LRTM1) E K 43 rs3806633 Benign
62969 Q9HBL6 (LRTM1) L V 117 rs35540470 Benign
62970 Q9HBL8 (NMRAL1) T I 23 rs11557236 Benign
62971 Q9HBL8 (NMRAL1) P L 252 rs3747582 Benign
62972 Q9HBM0 (VEZT) T A 162 rs17855933 Benign
62973 Q9HBM0 (VEZT) V I 496 rs10507051 Benign
62974 Q9HBM0 (VEZT) V M 612 rs17344738 Benign
62975 Q9HBM0 (VEZT) S A 668 rs17855934 Benign
62976 Q9HBM0 (VEZT) G D 762 rs14121 Benign
62977 Q9HBQ8 (GOLGA2P5) A V 110 rs12370675 Benign
62978 Q9HBR0 (SLC38A10) K R 559 rs35546507 Benign
62979 Q9HBR0 (SLC38A10) A G 831 rs2725405 Benign
62980 Q9HBT6 (CDH20) P H 328 rs1943330 Benign
62981 Q9HBT6 (CDH20) Q R 371 rs35923922 Benign
62982 Q9HBT6 (CDH20) P L 391 rs17068463 Benign
62983 Q9HBT7 (ZNF287) K T 281 rs7224723 Benign
62984 Q9HBT8 (ZNF286A) Y H 90 rs3760299 Benign
62985 Q9HBU1 (BARX1) A T 48 rs191789925 Benign
62986 Q9HBU9 (POPDC2) V I 29 rs4688023 Benign
62987 Q9HBV1 (POPDC3) R Q 106 rs11961225 Benign
62988 Q9HBV2 (SPACA1) L S 237 rs2276089 Benign
62989 Q9HBW9 (ADGRL4) V L 300 rs12754818 Benign
62990 Q9HBW9 (ADGRL4) H Q 599 rs1968956 Benign
62991 Q9HBW9 (ADGRL4) A G 620 rs2275902 Benign
62992 Q9HBX3 (SND1-IT1) T A 24 rs17151639 Benign
62993 Q9HBX8 (LGR6) N K 267 rs7553800 Benign
62994 Q9HBX8 (LGR6) A S 516 rs6668765 Benign
62995 Q9HBX8 (LGR6) V A 592 rs788795 Benign
62996 Q9HBY0 (NOX3) T K 171 rs3749930 Benign
62997 Q9HBY8 (SGK2) S T 12 rs33969356 Benign
62998 Q9HBY8 (SGK2) H Y 349 rs35793869 Benign
62999 Q9HBZ2 (ARNT2) R W 46 rs140468271 Benign
63000 Q9HBZ2 (ARNT2) R H 107 rs371290912 Benign
63001 Q9HBZ2 (ARNT2) R Q 402 rs141193900 Benign
63002 Q9HBZ2 (ARNT2) W R 410 rs150964641 Benign
63003 Q9HBZ2 (ARNT2) G S 679 rs4072568 Benign
63004 Q9HC07 (TMEM165) R C 126 rs387907222 Disease: Congenital disorder of glycosylatio n 2K (CDG2K) [MIM:614727]
63005 Q9HC07 (TMEM165) R H 126 rs387907221 Disease: Congenital disorder of glycosylatio n 2K (CDG2K) [MIM:614727]
63006 Q9HC07 (TMEM165) G R 304 rs886037631 Disease: Congenital disorder of glycosylatio n 2K (CDG2K) [MIM:614727]
63007 Q9HC10 (OTOF) A V 53 rs1879761 Benign
63008 Q9HC10 (OTOF) R C 82 rs13031859 Benign
63009 Q9HC10 (OTOF) Q H 255 rs397515611 Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
63010 Q9HC10 (OTOF) P Q 490 rs80356585 Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
63011 Q9HC10 (OTOF) I T 515 rs80356586 Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
63012 Q9HC10 (OTOF) V M 575 rs55676840 Benign
63013 Q9HC10 (OTOF) R S 773 - Benign
63014 Q9HC10 (OTOF) R H 794 rs80356592 Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
63015 Q9HC10 (OTOF) R W 818 rs2272070 Benign
63016 Q9HC10 (OTOF) R W 822 rs80356570 Benign
63017 Q9HC10 (OTOF) A E 964 rs201329629 Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
63018 Q9HC10 (OTOF) L P 1011 rs80356596 Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
63019 Q9HC10 (OTOF) A P 1083 rs80356574 Benign
63020 Q9HC10 (OTOF) L P 1138 rs397515599 Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
63021 Q9HC10 (OTOF) R Q 1157 rs56054534 Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
63022 Q9HC10 (OTOF) R Q 1236 rs368633281 Benign
63023 Q9HC10 (OTOF) D E 1322 rs80356576 Benign
63024 Q9HC10 (OTOF) V M 1625 rs80356579 Benign
63025 Q9HC10 (OTOF) P S 1646 rs17005371 Benign
63026 Q9HC10 (OTOF) R H 1680 rs11893228 Benign
63027 Q9HC10 (OTOF) T K 1688 - Benign
63028 Q9HC10 (OTOF) F C 1795 rs397515606 Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
63029 Q9HC10 (OTOF) P A 1825 rs28937591 Disease: Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]
63030 Q9HC10 (OTOF) V A 1886 rs45442103 Benign
63031 Q9HC10 (OTOF) G D 1888 rs80356583 Benign
63032 Q9HC10 (OTOF) R Q 1939 rs80356605 Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
63033 Q9HC10 (OTOF) P R 1987 rs80356606 Disease: Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]
63034 Q9HC16 (APOBEC3G) H R 186 rs8177832 Benign
63035 Q9HC16 (APOBEC3G) R H 256 rs17000736 Benign
63036 Q9HC16 (APOBEC3G) Q E 275 rs17496046 Benign
63037 Q9HC21 (SLC25A19) G S 125 rs387906944 Disease: Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropat hy type (THMD4) [MIM:613710]
63038 Q9HC21 (SLC25A19) G A 177 rs119473030 Disease: Microcephaly , Amish type (MCPHA) [MIM:607196]
63039 Q9HC23 (PROK2) A P 24 rs587777863 Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
63040 Q9HC23 (PROK2) G R 32 rs104893767 Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
63041 Q9HC23 (PROK2) C Y 34 rs587777864 Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
63042 Q9HC23 (PROK2) C Y 46 rs1427017264 Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
63043 Q9HC23 (PROK2) I M 50 rs1388290870 Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
63044 Q9HC23 (PROK2) R C 73 rs121434272 Disease: Hypogonadotr opic hypogonadism 4 with or without anosmia (HH4) [MIM:610628]
63045 Q9HC24 (TMBIM4) A V 2 rs11176070 Benign
63046 Q9HC24 (TMBIM4) I T 88 rs8793 Benign
63047 Q9HC29 (NOD2) L V 81 rs34936594 Benign
63048 Q9HC29 (NOD2) T M 189 rs61755182 Benign
63049 Q9HC29 (NOD2) P S 268 rs2066842 Benign
63050 Q9HC29 (NOD2) N S 289 rs5743271 Benign
63051 Q9HC29 (NOD2) R Q 334 rs104895461 Disease: Blau syndrome (BLAUS) [MIM:186580]
63052 Q9HC29 (NOD2) R W 334 rs104895462 Disease: Blau syndrome (BLAUS) [MIM:186580]
63053 Q9HC29 (NOD2) D E 382 rs104895476 Disease: Blau syndrome (BLAUS) [MIM:186580]
63054 Q9HC29 (NOD2) E K 383 rs104895477 Disease: Blau syndrome (BLAUS) [MIM:186580]
63055 Q9HC29 (NOD2) R C 391 rs104895481 Benign
63056 Q9HC29 (NOD2) P A 463 rs104895482 Benign
63057 Q9HC29 (NOD2) G W 464 rs104895492 Benign
63058 Q9HC29 (NOD2) L F 469 rs104895460 Disease: Blau syndrome (BLAUS) [MIM:186580]
63059 Q9HC29 (NOD2) R C 471 rs1078327 Benign
63060 Q9HC29 (NOD2) H L 496 rs104895472 Disease: Blau syndrome (BLAUS) [MIM:186580]
63061 Q9HC29 (NOD2) P S 507 - Disease: Blau syndrome (BLAUS) [MIM:186580]
63062 Q9HC29 (NOD2) M T 513 rs104895473 Disease: Blau syndrome (BLAUS) [MIM:186580]
63063 Q9HC29 (NOD2) T N 605 - Disease: Blau syndrome (BLAUS) [MIM:186580]
63064 Q9HC29 (NOD2) T P 605 rs104895474 Disease: Blau syndrome (BLAUS) [MIM:186580]
63065 Q9HC29 (NOD2) N K 670 rs104895475 Disease: Blau syndrome (BLAUS) [MIM:186580]
63066 Q9HC29 (NOD2) R W 702 rs2066844 Disease: Yao syndrome (YAOS) [MIM:617321]
63067 Q9HC29 (NOD2) R Q 790 rs5743279 Benign
63068 Q9HC29 (NOD2) R W 791 rs104895484 Benign
63069 Q9HC29 (NOD2) N K 825 rs104895485 Benign
63070 Q9HC29 (NOD2) A V 849 rs104895486 Benign
63071 Q9HC29 (NOD2) G R 908 rs2066845 Disease: Yao syndrome (YAOS) [MIM:617321]
63072 Q9HC29 (NOD2) A D 918 rs104895452 Benign
63073 Q9HC29 (NOD2) V I 955 rs5743291 Benign
63074 Q9HC35 (EML4) K E 283 rs6736913 Benign
63075 Q9HC35 (EML4) I V 382 rs10202624 Benign
63076 Q9HC35 (EML4) K R 398 rs28651764 Benign
63077 Q9HC35 (EML4) S L 978 rs28364731 Benign
63078 Q9HC36 (MRM3) A S 8 rs2273454 Benign
63079 Q9HC36 (MRM3) G E 45 rs2249542 Benign
63080 Q9HC36 (MRM3) I V 185 rs17854653 Benign
63081 Q9HC36 (MRM3) E Q 326 rs35780267 Benign
63082 Q9HC38 (GLOD4) M I 282 rs17851349 Benign
63083 Q9HC44 (GPBP1L1) P S 192 rs36067922 Benign
63084 Q9HC44 (GPBP1L1) R H 439 rs12093126 Benign
63085 Q9HC52 (CBX8) G V 317 rs4889891 Benign
63086 Q9HC57 (WFDC1) L V 196 rs35504166 Benign
63087 Q9HC57 (WFDC1) K R 217 rs12933084 Benign
63088 Q9HC58 (SLC24A3) L P 49 rs3790174 Benign
63089 Q9HC58 (SLC24A3) V I 55 rs1569767 Benign
63090 Q9HC58 (SLC24A3) V I 168 rs3790267 Benign
63091 Q9HC58 (SLC24A3) G S 271 rs6136807 Benign
63092 Q9HC62 (SENP2) T K 301 rs6762208 Benign
63093 Q9HC77 (CENPJ) M V 21 rs35498994 Benign
63094 Q9HC77 (CENPJ) P A 55 rs17081389 Benign
63095 Q9HC77 (CENPJ) D H 63 rs7336216 Benign
63096 Q9HC77 (CENPJ) P T 85 rs9511510 Benign
63097 Q9HC77 (CENPJ) E G 151 rs34177811 Benign
63098 Q9HC77 (CENPJ) S A 879 rs17402892 Benign
63099 Q9HC77 (CENPJ) E V 1235 rs121434311 Disease: Microcephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]
63100 Q9HC78 (ZBTB20) K Q 590 rs483353064 Disease: Primrose syndrome (PRIMS) [MIM:259050]
63101 Q9HC78 (ZBTB20) H R 596 rs483353066 Disease: Primrose syndrome (PRIMS) [MIM:259050]
63102 Q9HC78 (ZBTB20) G A 602 rs483353068 Disease: Primrose syndrome (PRIMS) [MIM:259050]
63103 Q9HC78 (ZBTB20) L F 621 rs483353070 Disease: Primrose syndrome (PRIMS) [MIM:259050]
63104 Q9HC84 (MUC5B) E G 34 rs2672785 Benign
63105 Q9HC84 (MUC5B) R W 51 rs2075853 Benign
63106 Q9HC84 (MUC5B) T M 1360 rs12363494 Benign
63107 Q9HC84 (MUC5B) R H 1401 rs10835639 Benign
63108 Q9HC84 (MUC5B) G S 1805 rs1541314 Benign
63109 Q9HC84 (MUC5B) P L 1889 rs2943510 Benign
63110 Q9HC84 (MUC5B) A T 2025 rs34739266 Benign
63111 Q9HC84 (MUC5B) A T 2027 rs2943531 Benign
63112 Q9HC84 (MUC5B) M T 2194 rs2943502 Benign
63113 Q9HC84 (MUC5B) L P 2238 rs4963031 Benign
63114 Q9HC84 (MUC5B) M T 2425 rs3965632 Benign
63115 Q9HC84 (MUC5B) T M 2559 rs60787297 Benign
63116 Q9HC84 (MUC5B) F S 3072 rs55813014 Benign
63117 Q9HC84 (MUC5B) T A 3284 rs2943531 Benign
63118 Q9HC84 (MUC5B) R P 3468 rs2943529 Benign
63119 Q9HC84 (MUC5B) T M 3816 rs201948297 Benign
63120 Q9HC84 (MUC5B) A G 4404 rs2943517 Benign
63121 Q9HC84 (MUC5B) P L 4440 rs2943516 Benign
63122 Q9HC84 (MUC5B) T P 4706 rs2943512 Benign
63123 Q9HC84 (MUC5B) T M 4712 rs2943511 Benign
63124 Q9HC84 (MUC5B) A T 4867 rs3021155 Benign
63125 Q9HC84 (MUC5B) T A 4882 rs3021156 Benign
63126 Q9HC84 (MUC5B) S T 5196 rs2672788 Benign
63127 Q9HC96 (CAPN10) P T 200 rs3792268 Benign
63128 Q9HC96 (CAPN10) R H 202 rs768407925 Benign
63129 Q9HC96 (CAPN10) A V 341 rs776848131 Benign
63130 Q9HC96 (CAPN10) T A 504 rs7607759 Benign
63131 Q9HC96 (CAPN10) A S 529 - Benign
63132 Q9HC96 (CAPN10) S N 613 rs146148004 Benign
63133 Q9HC96 (CAPN10) I V 666 rs2975766 Benign
63134 Q9HC97 (GPR35) A T 25 rs35146537 Benign
63135 Q9HC97 (GPR35) V I 29 rs139197368 Benign
63136 Q9HC97 (GPR35) V M 76 rs13387859 Benign
63137 Q9HC97 (GPR35) T M 108 rs3749171 Benign
63138 Q9HC97 (GPR35) R S 125 rs34778053 Benign
63139 Q9HC97 (GPR35) T M 253 rs12468485 Benign
63140 Q9HC97 (GPR35) S R 294 rs3749172 Benign
63141 Q9HCC0 (MCCC2) S F 39 rs398124371 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63142 Q9HCC0 (MCCC2) E Q 99 rs119103219 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63143 Q9HCC0 (MCCC2) S F 101 rs748028684 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63144 Q9HCC0 (MCCC2) C F 131 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63145 Q9HCC0 (MCCC2) T I 139 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63146 Q9HCC0 (MCCC2) Y N 146 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63147 Q9HCC0 (MCCC2) K T 152 rs1554134065 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63148 Q9HCC0 (MCCC2) R Q 155 rs119103220 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63149 Q9HCC0 (MCCC2) R W 155 rs141030969 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63150 Q9HCC0 (MCCC2) C R 167 rs119103222 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63151 Q9HCC0 (MCCC2) Y D 169 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63152 Q9HCC0 (MCCC2) S L 173 rs752866557 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63153 Q9HCC0 (MCCC2) H R 190 rs119103225 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63154 Q9HCC0 (MCCC2) H Y 190 rs773774134 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63155 Q9HCC0 (MCCC2) R C 193 rs547662164 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63156 Q9HCC0 (MCCC2) R H 193 rs535519604 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63157 Q9HCC0 (MCCC2) G A 214 rs277995 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63158 Q9HCC0 (MCCC2) C W 216 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63159 Q9HCC0 (MCCC2) A T 218 rs886043524 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63160 Q9HCC0 (MCCC2) A V 218 rs760420191 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63161 Q9HCC0 (MCCC2) G E 220 rs1254750166 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63162 Q9HCC0 (MCCC2) P L 224 rs1195601465 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63163 Q9HCC0 (MCCC2) N D 230 rs766753795 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63164 Q9HCC0 (MCCC2) G D 237 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63165 Q9HCC0 (MCCC2) H L 266 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63166 Q9HCC0 (MCCC2) R T 268 rs119103223 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63167 Q9HCC0 (MCCC2) D Y 280 rs119103226 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63168 Q9HCC0 (MCCC2) H R 282 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63169 Q9HCC0 (MCCC2) P R 310 rs119103221 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63170 Q9HCC0 (MCCC2) Y C 318 rs773115035 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63171 Q9HCC0 (MCCC2) G R 319 rs1443551700 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63172 Q9HCC0 (MCCC2) V M 339 rs150591260 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63173 Q9HCC0 (MCCC2) D V 340 rs398124370 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63174 Q9HCC0 (MCCC2) G R 352 rs765438239 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63175 Q9HCC0 (MCCC2) L F 355 rs757052602 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63176 Q9HCC0 (MCCC2) V F 375 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63177 Q9HCC0 (MCCC2) Q P 393 rs750782118 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63178 Q9HCC0 (MCCC2) N T 403 rs142887940 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63179 Q9HCC0 (MCCC2) G D 410 rs771440617 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63180 Q9HCC0 (MCCC2) G R 410 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63181 Q9HCC0 (MCCC2) V L 434 rs758506791 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63182 Q9HCC0 (MCCC2) I V 437 rs119103224 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63183 Q9HCC0 (MCCC2) A V 456 rs727504011 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63184 Q9HCC0 (MCCC2) P S 459 rs754741111 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63185 Q9HCC0 (MCCC2) F V 461 - Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63186 Q9HCC0 (MCCC2) G R 475 rs148773718 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63187 Q9HCC0 (MCCC2) Q R 477 rs769558016 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63188 Q9HCC0 (MCCC2) A G 478 rs35068278 Benign
63189 Q9HCC0 (MCCC2) G R 517 rs979584886 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63190 Q9HCC0 (MCCC2) Y S 520 rs150327768 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63191 Q9HCC0 (MCCC2) S G 523 rs1459143051 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63192 Q9HCC0 (MCCC2) A T 524 rs774241918 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63193 Q9HCC0 (MCCC2) K E 555 rs1257849672 Disease: 3-methylcrot onoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
63194 Q9HCC9 (ZFYVE28) S N 603 rs17768776 Benign
63195 Q9HCC9 (ZFYVE28) S P 672 rs661301 Benign
63196 Q9HCD5 (NCOA5) E G 326 rs11549557 Benign
63197 Q9HCD6 (TANC2) R C 760 rs1282488329 Benign
63198 Q9HCE0 (EPG5) K E 182 rs59422275 Benign
63199 Q9HCE0 (EPG5) Q R 336 rs201757275 Disease: Vici syndrome (VICIS) [MIM:242840]
63200 Q9HCE0 (EPG5) E D 844 rs3744999 Benign
63201 Q9HCE0 (EPG5) V A 1058 rs3744998 Benign
63202 Q9HCE0 (EPG5) I V 1131 rs3744997 Benign
63203 Q9HCE0 (EPG5) A V 1511 rs1893523 Benign
63204 Q9HCE0 (EPG5) P A 1827 - Disease: Vici syndrome (VICIS) [MIM:242840]
63205 Q9HCE0 (EPG5) S N 1864 rs34064739 Benign
63206 Q9HCE0 (EPG5) R Q 1985 rs34674177 Benign
63207 Q9HCE3 (ZNF532) E D 761 rs3737506 Benign
63208 Q9HCE6 (ARHGEF10L) S N 47 rs34417109 Benign
63209 Q9HCE6 (ARHGEF10L) D N 69 rs35497285 Benign
63210 Q9HCE6 (ARHGEF10L) R W 991 rs6695710 Benign
63211 Q9HCE6 (ARHGEF10L) I V 1219 rs2270976 Benign
63212 Q9HCE7 (SMURF1) S Y 466 rs13246077 Benign
63213 Q9HCF6 (TRPM3) T I 1653 rs13440436 Benign
63214 Q9HCF6 (TRPM3) R Q 1695 rs6560142 Benign
63215 Q9HCF6 (TRPM3) R K 1717 rs41287373 Benign
63216 Q9HCF6 (TRPM3) N T 1732 rs17535963 Benign
63217 Q9HCG1 (ZNF160) R Q 7 rs329709 Benign
63218 Q9HCG1 (ZNF160) P R 82 rs8105668 Benign
63219 Q9HCG7 (GBA2) D H 594 rs398123064 Disease: Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]
63220 Q9HCG7 (GBA2) R W 630 rs398123012 Disease: Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]
63221 Q9HCG7 (GBA2) R H 873 rs398123015 Disease: Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]
63222 Q9HCG8 (CWC22) A V 656 rs17778270 Benign
63223 Q9HCG8 (CWC22) D V 741 rs11903115 Benign
63224 Q9HCG8 (CWC22) R Q 794 rs1046356 Benign
63225 Q9HCH3 (CPNE5) N S 33 rs3734334 Benign
63226 Q9HCH3 (CPNE5) R H 582 rs3830138 Benign
63227 Q9HCI5 (MAGEE1) S C 305 rs142080557 Benign
63228 Q9HCI5 (MAGEE1) E D 339 rs7051260 Benign
63229 Q9HCI6 (KIAA1586) F L 75 rs36113897 Benign
63230 Q9HCI6 (KIAA1586) V M 81 rs6926980 Benign
63231 Q9HCJ0 (TNRC6C) P R 820 rs34293811 Benign
63232 Q9HCJ1 (ANKH) P L 5 rs121908409 Disease: Chondrocalci nosis 2 (CCAL2) [MIM:118600]
63233 Q9HCJ1 (ANKH) P T 5 rs121908410 Disease: Chondrocalci nosis 2 (CCAL2) [MIM:118600]
63234 Q9HCJ1 (ANKH) M T 48 rs121908407 Disease: Chondrocalci nosis 2 (CCAL2) [MIM:118600]
63235 Q9HCJ1 (ANKH) W R 292 - Disease: Craniometaph yseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
63236 Q9HCJ1 (ANKH) C R 331 - Disease: Craniometaph yseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
63237 Q9HCJ1 (ANKH) G R 389 rs28939080 Disease: Craniometaph yseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
63238 Q9HCJ5 (ZSWIM6) S R 763 - Benign
63239 Q9HCJ5 (ZSWIM6) R W 1163 rs587777695 Disease: Acromelic frontonasal dysostosis (AFND) [MIM:603671]
63240 Q9HCK0 (ZBTB26) H R 236 rs7856488 Benign
63241 Q9HCK1 (ZDBF2) R K 160 rs10932150 Benign
63242 Q9HCK4 (ROBO2) I T 945 rs267607014 Disease: Vesicoureter al reflux 2 (VUR2) [MIM:610878]
63243 Q9HCK4 (ROBO2) A T 1236 rs267607015 Disease: Vesicoureter al reflux 2 (VUR2) [MIM:610878]
63244 Q9HCL2 (GPAM) S Y 4 rs11549703 Benign
63245 Q9HCL2 (GPAM) I V 43 rs2792751 Benign
63246 Q9HCL2 (GPAM) E G 131 rs10787428 Benign
63247 Q9HCL2 (GPAM) I T 386 rs35019520 Benign
63248 Q9HCM1 (RESF1) I V 59 rs7298803 Benign
63249 Q9HCM1 (RESF1) H Q 106 rs2388981 Benign
63250 Q9HCM1 (RESF1) P S 147 rs61353224 Benign
63251 Q9HCM1 (RESF1) I V 202 rs12320740 Benign
63252 Q9HCM1 (RESF1) L P 250 rs2166807 Benign
63253 Q9HCM1 (RESF1) R Q 309 rs16919122 Benign
63254 Q9HCM1 (RESF1) S N 346 rs3207618 Benign
63255 Q9HCM1 (RESF1) S G 352 rs10771894 Benign
63256 Q9HCM1 (RESF1) S T 433 rs3759302 Benign
63257 Q9HCM1 (RESF1) S P 518 rs3759301 Benign
63258 Q9HCM1 (RESF1) F S 954 rs3809228 Benign
63259 Q9HCM1 (RESF1) T K 1010 rs16919127 Benign
63260 Q9HCM1 (RESF1) S C 1208 rs3759299 Benign
63261 Q9HCM1 (RESF1) V I 1226 rs1057994 Benign
63262 Q9HCM1 (RESF1) T A 1338 rs3759296 Benign
63263 Q9HCM1 (RESF1) M T 1479 rs56682866 Benign
63264 Q9HCM3 (KIAA1549) A P 448 rs2718131 Benign
63265 Q9HCM3 (KIAA1549) P L 652 rs2774960 Benign
63266 Q9HCM3 (KIAA1549) V G 851 rs2354336 Benign
63267 Q9HCM4 (EPB41L5) H Y 334 rs28930677 Benign
63268 Q9HCM4 (EPB41L5) A T 462 rs1034489 Benign
63269 Q9HCM7 (FBRSL1) L P 367 rs879759065 Benign
63270 Q9HCN2 (TP53AIP1) A V 7 rs35942033 Benign
63271 Q9HCN3 (PGAP6) T A 136 rs11248931 Benign
63272 Q9HCN3 (PGAP6) I V 310 rs2071915 Benign
63273 Q9HCN3 (PGAP6) R W 567 rs3743887 Benign
63274 Q9HCN6 (GP6) R C 58 rs199588110 Disease: Bleeding disorder, platelet- type 11 (BDPLT11) [MIM:614201]
63275 Q9HCN6 (GP6) S N 175 rs387906919 Disease: Bleeding disorder, platelet- type 11 (BDPLT11) [MIM:614201]
63276 Q9HCN6 (GP6) P S 219 rs1613662 Benign
63277 Q9HCN6 (GP6) E K 237 rs1654416 Benign
63278 Q9HCN6 (GP6) A T 249 rs2304167 Benign
63279 Q9HCN6 (GP6) L Q 317 rs1654413 Benign
63280 Q9HCN6 (GP6) N H 322 rs1671152 Benign
63281 Q9HCN6 (GP6) R G 335 rs1654412 Benign
63282 Q9HCP0 (CSNK1G1) R K 206 rs55799101 Benign
63283 Q9HCP0 (CSNK1G1) R W 230 rs587777544 Disease: -
63284 Q9HCP0 (CSNK1G1) V I 329 rs55699712 Benign
63285 Q9HCP6 (HHATL) M V 403 rs11079 Benign
63286 Q9HCQ7 (NPVF) I M 32 rs886354 Benign
63287 Q9HCQ7 (NPVF) D G 42 rs877834 Benign
63288 Q9HCQ7 (NPVF) V M 121 rs3213641 Benign
63289 Q9HCR9 (PDE11A) R H 804 rs75127279 Benign
63290 Q9HCR9 (PDE11A) R G 867 rs61306957 Benign
63291 Q9HCS2 (CYP4F12) P L 13 rs16995376 Benign
63292 Q9HCS2 (CYP4F12) T M 16 rs16995378 Benign
63293 Q9HCS2 (CYP4F12) N D 76 rs609636 Benign
63294 Q9HCS2 (CYP4F12) V I 90 rs609290 Benign
63295 Q9HCS2 (CYP4F12) R C 188 rs2285888 Benign
63296 Q9HCS2 (CYP4F12) S G 522 rs593818 Benign
63297 Q9HCS4 (TCF7L1) G R 533 rs11547160 Benign
63298 Q9HCS5 (EPB41L4A) V I 132 rs34008454 Benign
63299 Q9HCS7 (XAB2) V I 126 rs4134822 Benign
63300 Q9HCS7 (XAB2) R Q 454 rs4134850 Benign
63301 Q9HCS7 (XAB2) A T 702 rs4134865 Benign
63302 Q9HCU0 (CD248) H R 457 rs3741367 Benign
63303 Q9HCU4 (CELSR2) R Q 1066 rs12083590 Benign
63304 Q9HCU4 (CELSR2) Y H 1639 rs653635 Benign
63305 Q9HCU4 (CELSR2) G R 1992 rs12567377 Benign
63306 Q9HCU4 (CELSR2) T A 2387 rs17035649 Benign
63307 Q9HCU8 (POLD4) R P 39 rs28364240 Benign
63308 Q9HCU8 (POLD4) G R 59 rs34136263 Benign
63309 Q9HCX3 (ZNF304) L P 121 rs862708 Benign
63310 Q9HCX3 (ZNF304) K E 367 rs862709 Benign
63311 Q9HCZ1 (ZNF334) N S 547 rs3764690 Benign
63312 Q9HD15 (SRA1) Q E 32 rs35610885 Benign
63313 Q9HD23 (MRS2) P S 35 rs2295651 Benign
63314 Q9HD23 (MRS2) P S 412 rs35261004 Benign
63315 Q9HD33 (MRPL47) C G 10 rs2339844 Benign
63316 Q9HD33 (MRPL47) R H 213 rs10513762 Benign
63317 Q9HD34 (LYRM4) S A 11 rs2224391 Benign
63318 Q9HD34 (LYRM4) R L 68 rs587777218 Disease: Combined oxidative phosphorylat ion deficiency 19 (COXPD19) [MIM:615595]
63319 Q9HD36 (BCL2L10) L R 21 rs2231292 Benign
63320 Q9HD40 (SEPSECS) A T 239 rs267607035 Disease: Pontocerebel lar hypoplasia 2D (PCH2D) [MIM:613811]
63321 Q9HD40 (SEPSECS) T S 325 rs1461368206 Disease: Pontocerebel lar hypoplasia 2D (PCH2D) [MIM:613811]
63322 Q9HD40 (SEPSECS) Y C 334 rs267607036 Disease: Pontocerebel lar hypoplasia 2D (PCH2D) [MIM:613811]
63323 Q9HD43 (PTPRH) D N 232 rs55870162 Benign
63324 Q9HD43 (PTPRH) V I 243 rs45535035 Benign
63325 Q9HD43 (PTPRH) H Y 348 rs2288515 Benign
63326 Q9HD43 (PTPRH) L F 543 rs16986309 Benign
63327 Q9HD43 (PTPRH) K N 781 rs2288523 Benign
63328 Q9HD43 (PTPRH) E K 823 rs890870 Benign
63329 Q9HD43 (PTPRH) G D 831 rs36092369 Benign
63330 Q9HD43 (PTPRH) I V 1076 rs2288419 Benign
63331 Q9HD67 (MYO10) V I 32 rs17707947 Benign
63332 Q9HD67 (MYO10) H Y 148 rs7737765 Benign
63333 Q9HD67 (MYO10) E D 273 rs6870170 Benign
63334 Q9HD67 (MYO10) R W 324 rs11750538 Benign
63335 Q9HD67 (MYO10) R Q 700 rs26740 Benign
63336 Q9HD67 (MYO10) S T 1663 rs25901 Benign
63337 Q9HD90 (NEUROD4) K T 68 rs76064726 Benign
63338 Q9HDC5 (JPH1) T M 507 rs16938829 Benign
63339 Q9HDC5 (JPH1) D H 624 rs16938828 Benign
63340 Q9HDC9 (APMAP) I V 65 rs12242 Benign
63341 Q9HDC9 (APMAP) R Q 282 rs35097515 Benign
63342 Q9HDC9 (APMAP) R W 374 rs28364786 Benign
63343 Q9N2K0 (-) V L 81 - Benign
63344 Q9N2K0 (-) F L 150 - Benign
63345 Q9NNW7 (TXNRD2) R L 14 rs45593642 Benign
63346 Q9NNW7 (TXNRD2) A S 66 rs5748469 Benign
63347 Q9NNW7 (TXNRD2) S R 299 rs5992495 Benign
63348 Q9NNW7 (TXNRD2) I T 370 rs1139793 Benign
63349 Q9NNX1 (TUFT1) Q R 18 rs3828054 Benign
63350 Q9NNX1 (TUFT1) K R 296 rs16833395 Benign
63351 Q9NNX6 (CD209) E D 168 rs1003686123 Benign
63352 Q9NNX6 (CD209) E D 214 rs11465377 Benign
63353 Q9NNX6 (CD209) L V 242 rs11465380 Benign
63354 Q9NNX6 (CD209) A S 382 rs11465393 Benign
63355 Q9NNZ6 (PRM3) Q R 100 rs429744 Benign
63356 Q9NP31 (SH2D2A) N S 52 rs926103 Benign
63357 Q9NP31 (SH2D2A) R C 272 rs12072861 Benign
63358 Q9NP50 (SINHCAF) R H 117 rs2304459 Benign
63359 Q9NP58 (ABCB6) S G 170 rs397514757 Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63360 Q9NP58 (ABCB6) L V 293 rs13018440 Benign
63361 Q9NP58 (ABCB6) S R 322 - Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63362 Q9NP58 (ABCB6) R Q 343 rs60322991 Benign
63363 Q9NP58 (ABCB6) L P 356 rs397514756 Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63364 Q9NP58 (ABCB6) R Q 375 rs754667801 Disease: Pseudohyperk alemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
63365 Q9NP58 (ABCB6) R W 375 rs764893806 Disease: Pseudohyperk alemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
63366 Q9NP58 (ABCB6) Y H 424 - Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63367 Q9NP58 (ABCB6) A V 453 - Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63368 Q9NP58 (ABCB6) Q K 555 rs796065353 Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63369 Q9NP58 (ABCB6) G E 579 rs397514758 Disease: Dyschromatos is universalis hereditaria 3 (DUH3) [MIM:615402]
63370 Q9NP58 (ABCB6) R Q 648 rs13402964 Benign
63371 Q9NP58 (ABCB6) R Q 723 rs148211042 Disease: Pseudohyperk alemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
63372 Q9NP58 (ABCB6) L V 811 rs387906910 Disease: Microphthalm ia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
63373 Q9NP59 (SLC40A1) Y N 64 rs1285653301 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63374 Q9NP59 (SLC40A1) A D 77 rs28939076 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63375 Q9NP59 (SLC40A1) G S 80 rs978427853 Benign
63376 Q9NP59 (SLC40A1) G V 80 rs104893673 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63377 Q9NP59 (SLC40A1) N D 144 - Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63378 Q9NP59 (SLC40A1) N H 144 rs104893662 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63379 Q9NP59 (SLC40A1) N T 144 rs1434101655 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63380 Q9NP59 (SLC40A1) D G 157 rs104893663 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63381 Q9NP59 (SLC40A1) N I 174 rs1397119020 Benign
63382 Q9NP59 (SLC40A1) D V 181 rs104893672 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63383 Q9NP59 (SLC40A1) Q H 182 rs104893670 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63384 Q9NP59 (SLC40A1) Q H 248 rs11568350 Benign
63385 Q9NP59 (SLC40A1) G D 267 rs104893664 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63386 Q9NP59 (SLC40A1) D V 270 rs368420430 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63387 Q9NP59 (SLC40A1) G V 323 rs104893671 Disease: Hemochromato sis 4 (HFE4) [MIM:606069]
63388 Q9NP59 (SLC40A1) M V 432 rs11568355 Benign
63389 Q9NP59 (SLC40A1) P L 443 rs45606432 Benign
63390 Q9NP59 (SLC40A1) G D 490 rs1060501102 Benign
63391 Q9NP59 (SLC40A1) R G 561 rs11568346 Benign
63392 Q9NP61 (ARFGAP3) S G 231 rs9607957 Benign
63393 Q9NP61 (ARFGAP3) S R 355 rs1018448 Benign
63394 Q9NP61 (ARFGAP3) S G 370 rs16986123 Benign
63395 Q9NP61 (ARFGAP3) Q H 468 rs35498349 Benign
63396 Q9NP61 (ARFGAP3) A T 482 rs36003980 Benign
63397 Q9NP61 (ARFGAP3) Q R 490 rs11551619 Benign
63398 Q9NP70 (AMBN) A V 255 rs7439186 Benign
63399 Q9NP70 (AMBN) L P 354 rs72654387 Benign
63400 Q9NP70 (AMBN) H R 439 rs375426598 Benign
63401 Q9NP71 (MLXIPL) Q H 241 rs3812316 Benign
63402 Q9NP71 (MLXIPL) D E 244 rs34922362 Benign
63403 Q9NP72 (RAB18) L Q 24 rs387906832 Disease: Warburg micro syndrome 3 (WARBM3) [MIM:614222]
63404 Q9NP72 (RAB18) N S 113 rs12268932 Benign
63405 Q9NP72 (RAB18) A T 198 rs11015859 Benign
63406 Q9NP73 (ALG13) K E 94 rs867599353 Disease: Epileptic encephalopat hy, early infantile, 36 (EIEE36) [MIM:300884]
63407 Q9NP73 (ALG13) N S 107 rs398122394 Disease: Epileptic encephalopat hy, early infantile, 36 (EIEE36) [MIM:300884]
63408 Q9NP74 (PALMD) H Q 73 rs11802902 Benign
63409 Q9NP74 (PALMD) N S 229 rs35258980 Benign
63410 Q9NP74 (PALMD) E D 459 rs35317701 Benign
63411 Q9NP78 (ABCB9) V M 121 rs3803002 Benign
63412 Q9NP79 (VTA1) I M 239 rs2232307 Benign
63413 Q9NP81 (SARS2) T A 35 rs34264048 Benign
63414 Q9NP81 (SARS2) S L 83 rs34050897 Benign
63415 Q9NP81 (SARS2) D G 390 rs727502784 Disease: Hyperuricemi a, pulmonary hypertension , renal failure, and alkalosis syndrome (HUPRAS) [MIM:613845]
63416 Q9NP85 (NPHS2) R G 3 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63417 Q9NP85 (NPHS2) R T 18 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63418 Q9NP85 (NPHS2) P L 20 rs74315344 Benign
63419 Q9NP85 (NPHS2) R M 26 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63420 Q9NP85 (NPHS2) K M 28 rs1340195940 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63421 Q9NP85 (NPHS2) A T 29 rs561887984 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63422 Q9NP85 (NPHS2) E K 30 rs1477180313 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63423 Q9NP85 (NPHS2) E Q 30 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63424 Q9NP85 (NPHS2) G E 34 - Benign
63425 Q9NP85 (NPHS2) Q L 39 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63426 Q9NP85 (NPHS2) E A 44 - Benign
63427 Q9NP85 (NPHS2) A V 61 rs201050491 Benign
63428 Q9NP85 (NPHS2) P T 89 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63429 Q9NP85 (NPHS2) G C 92 rs74315345 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63430 Q9NP85 (NPHS2) L P 107 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63431 Q9NP85 (NPHS2) M T 115 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63432 Q9NP85 (NPHS2) T P 116 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63433 Q9NP85 (NPHS2) P L 118 rs869025495 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63434 Q9NP85 (NPHS2) W L 122 rs750332447 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63435 Q9NP85 (NPHS2) W S 122 rs750332447 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63436 Q9NP85 (NPHS2) C W 124 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63437 Q9NP85 (NPHS2) K N 126 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63438 Q9NP85 (NPHS2) R Q 138 rs74315342 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63439 Q9NP85 (NPHS2) L R 139 rs1345260812 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63440 Q9NP85 (NPHS2) L P 142 rs12240233 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63441 Q9NP85 (NPHS2) D G 160 rs74315346 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63442 Q9NP85 (NPHS2) R C 168 rs786204583 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63443 Q9NP85 (NPHS2) R H 168 rs530318579 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63444 Q9NP85 (NPHS2) R S 168 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63445 Q9NP85 (NPHS2) P V 175 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63446 Q9NP85 (NPHS2) V M 180 rs74315347 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63447 Q9NP85 (NPHS2) D Y 183 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63448 Q9NP85 (NPHS2) I V 192 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63449 Q9NP85 (NPHS2) A T 208 rs200587413 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63450 Q9NP85 (NPHS2) S A 211 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63451 Q9NP85 (NPHS2) A T 213 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63452 Q9NP85 (NPHS2) V G 218 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63453 Q9NP85 (NPHS2) T I 221 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63454 Q9NP85 (NPHS2) H D 228 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63455 Q9NP85 (NPHS2) R L 229 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63456 Q9NP85 (NPHS2) R Q 229 rs61747728 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63457 Q9NP85 (NPHS2) E Q 237 rs146906190 Benign
63458 Q9NP85 (NPHS2) R S 238 rs748812981 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63459 Q9NP85 (NPHS2) A V 242 rs61747727 Benign
63460 Q9NP85 (NPHS2) V E 260 rs775006954 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63461 Q9NP85 (NPHS2) E Q 264 rs369697947 Benign
63462 Q9NP85 (NPHS2) D N 267 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63463 Q9NP85 (NPHS2) V L 268 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63464 Q9NP85 (NPHS2) H L 276 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63465 Q9NP85 (NPHS2) E A 281 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63466 Q9NP85 (NPHS2) E K 281 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63467 Q9NP85 (NPHS2) V M 290 rs200482683 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63468 Q9NP85 (NPHS2) R W 291 rs74315348 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63469 Q9NP85 (NPHS2) E K 296 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63470 Q9NP85 (NPHS2) A V 297 rs199506378 Benign
63471 Q9NP85 (NPHS2) A V 309 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63472 Q9NP85 (NPHS2) R Q 322 rs776859868 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63473 Q9NP85 (NPHS2) P S 341 rs1214047676 Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63474 Q9NP85 (NPHS2) V G 370 - Disease: Nephrotic syndrome 2 (NPHS2) [MIM:600995]
63475 Q9NP86 (CABP5) T R 65 rs34862923 Benign
63476 Q9NP86 (CABP5) L P 80 rs8105198 Benign
63477 Q9NP86 (CABP5) V A 128 rs3745746 Benign
63478 Q9NP86 (CABP5) E K 140 rs34681062 Benign
63479 Q9NP86 (CABP5) I S 147 rs10425606 Benign
63480 Q9NP87 (POLM) E D 107 rs28382635 Benign
63481 Q9NP87 (POLM) G A 220 rs28382644 Benign
63482 Q9NP87 (POLM) V F 246 rs28382653 Benign
63483 Q9NP87 (POLM) L F 484 rs28382661 Benign
63484 Q9NP91 (SLC6A20) A G 9 rs2271615 Benign
63485 Q9NP91 (SLC6A20) T M 199 rs17279437 Benign
63486 Q9NP92 (MRPS30) C S 33 rs3747479 Benign
63487 Q9NP92 (MRPS30) A V 102 rs35601455 Benign
63488 Q9NP94 (SLC39A2) L P 48 rs2234633 Benign
63489 Q9NP94 (SLC39A2) M V 80 rs2234634 Benign
63490 Q9NP94 (SLC39A2) F L 115 rs2234636 Benign
63491 Q9NP94 (SLC39A2) G E 129 rs6413532 Benign
63492 Q9NP94 (SLC39A2) H Y 154 rs2234637 Benign
63493 Q9NP95 (FGF20) G R 116 rs3793405 Benign
63494 Q9NP95 (FGF20) P A 175 rs10089600 Benign
63495 Q9NP95 (FGF20) D N 206 rs17550360 Benign
63496 Q9NP97 (DYNLRB1) S R 13 rs1063616 Benign
63497 Q9NP97 (DYNLRB1) I F 71 rs10036 Benign
63498 Q9NP99 (TREM1) T S 25 rs2234237 Benign
63499 Q9NP99 (TREM1) K T 135 rs34727391 Benign
63500 Q9NP99 (TREM1) F L 214 rs2234245 Benign
63501 Q9NPA1 (KCNMB3) D G 44 rs1170672 Benign
63502 Q9NPA1 (KCNMB3) A T 53 rs7645550 Benign
63503 Q9NPA1 (KCNMB3) L V 75 rs2276802 Benign
63504 Q9NPA1 (KCNMB3) N S 165 rs55710741 Benign
63505 Q9NPA1 (KCNMB3) M T 230 rs145985409 Benign
63506 Q9NPB3 (CABP2) R Q 94 rs2276118 Benign
63507 Q9NPB6 (PARD6A) V I 286 rs35356834 Benign
63508 Q9NPB8 (GPCPD1) T I 273 rs2273373 Benign
63509 Q9NPC2 (KCNK9) G R 236 rs121908332 Disease: Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]
63510 Q9NPC4 (A4GALT) M V 37 rs11541159 Benign
63511 Q9NPC4 (A4GALT) Q R 163 rs28915383 Benign
63512 Q9NPC4 (A4GALT) M K 183 rs74315453 Benign
63513 Q9NPC4 (A4GALT) G D 187 rs28940572 Benign
63514 Q9NPC4 (A4GALT) Q E 211 rs397514502 Benign
63515 Q9NPC4 (A4GALT) P L 251 rs28940571 Benign
63516 Q9NPC6 (MYOZ2) S P 48 rs199476398 Disease: Cardiomyopat hy, familial hypertrophic 16 (CMH16) [MIM:613838]
63517 Q9NPC6 (MYOZ2) I M 246 rs140126678 Disease: Cardiomyopat hy, familial hypertrophic 16 (CMH16) [MIM:613838]
63518 Q9NPC8 (SIX2) L F 43 rs142188105 Benign
63519 Q9NPC8 (SIX2) P L 241 rs147806994 Benign
63520 Q9NPC8 (SIX2) D N 276 rs201675842 Benign
63521 Q9NPD5 (SLCO1B3) S A 112 rs4149117 Benign
63522 Q9NPD5 (SLCO1B3) M I 233 rs7311358 Benign
63523 Q9NPD5 (SLCO1B3) G A 256 rs60140950 Benign
63524 Q9NPD5 (SLCO1B3) V A 560 rs12299012 Benign
63525 Q9NPD8 (UBE2T) Q E 2 rs774357609 Disease: Fanconi anemia complementat ion group T (FANCT) [MIM:616435]
63526 Q9NPE2 (NGRN) L F 174 rs11073922 Benign
63527 Q9NPE2 (NGRN) D G 267 rs16944113 Benign
63528 Q9NPE3 (NOP10) R W 34 rs121908092 Disease: Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230]
63529 Q9NPF0 (CD320) Q R 8 rs2232775 Benign
63530 Q9NPF0 (CD320) S G 142 - Benign
63531 Q9NPF0 (CD320) G R 220 rs2336573 Benign
63532 Q9NPF4 (OSGEP) I F 14 rs1555331969 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63533 Q9NPF4 (OSGEP) K E 78 rs200347983 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63534 Q9NPF4 (OSGEP) V M 107 rs140583554 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63535 Q9NPF4 (OSGEP) C R 110 rs140076803 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63536 Q9NPF4 (OSGEP) I T 111 rs1443735811 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63537 Q9NPF4 (OSGEP) I T 139 rs1334263407 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63538 Q9NPF4 (OSGEP) G A 177 rs778931753 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63539 Q9NPF4 (OSGEP) K R 198 - Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63540 Q9NPF4 (OSGEP) R Q 247 rs773173317 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63541 Q9NPF4 (OSGEP) R C 280 rs374322839 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63542 Q9NPF4 (OSGEP) R H 280 rs144732839 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63543 Q9NPF4 (OSGEP) R L 280 rs144732839 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63544 Q9NPF4 (OSGEP) R Q 325 rs753237335 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63545 Q9NPF4 (OSGEP) R W 325 rs761839638 Disease: Galloway- Mowat syndrome 3 (GAMOS3) [MIM:617729]
63546 Q9NPG1 (FZD3) T S 4 rs140115204 Benign
63547 Q9NPG1 (FZD3) L M 199 rs757589666 Benign
63548 Q9NPG1 (FZD3) I V 545 rs199839949 Benign
63549 Q9NPG3 (UBN1) Y C 435 rs35103368 Benign
63550 Q9NPG4 (PCDH12) R G 55 rs200451693 Benign
63551 Q9NPG4 (PCDH12) H N 385 rs164075 Benign
63552 Q9NPG4 (PCDH12) S N 640 rs164515 Benign
63553 Q9NPG8 (ZDHHC4) V M 53 rs11559146 Benign
63554 Q9NPH0 (ACP6) M V 316 rs6593795 Benign
63555 Q9NPH3 (IL1RAP) V M 473 rs34661910 Benign
63556 Q9NPH5 (NOX4) M I 315 rs317139 Benign
63557 Q9NPH6 (OBP2B) V I 167 rs11244035 Benign
63558 Q9NPI0 (TMEM138) H R 96 rs387907132 Disease: Joubert syndrome 16 (JBTS16) [MIM:614465]
63559 Q9NPI0 (TMEM138) A T 126 rs387907134 Disease: Joubert syndrome 16 (JBTS16) [MIM:614465]
63560 Q9NPI0 (TMEM138) A V 127 rs387907133 Disease: Joubert syndrome 16 (JBTS16) [MIM:614465]
63561 Q9NPI0 (TMEM138) Y C 130 rs387907135 Disease: Joubert syndrome 16 (JBTS16) [MIM:614465]
63562 Q9NPI5 (NMRK2) E K 178 rs16992131 Benign
63563 Q9NPI8 (FANCF) V I 295 rs7103293 Benign
63564 Q9NPI8 (FANCF) P L 320 rs45451294 Benign
63565 Q9NPI9 (KCNJ16) I V 11 rs9302912 Benign
63566 Q9NPJ1 (MKKS) I M 32 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63567 Q9NPJ1 (MKKS) Y C 37 rs74315396 Disease: McKusick- Kaufman syndrome (MKKS) [MIM:236700]
63568 Q9NPJ1 (MKKS) G R 41 rs766132697 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63569 Q9NPJ1 (MKKS) G V 49 rs528833454 Benign
63570 Q9NPJ1 (MKKS) G D 52 rs28937875 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63571 Q9NPJ1 (MKKS) T A 57 rs74315399 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63572 Q9NPJ1 (MKKS) H Y 84 rs281797258 Disease: McKusick- Kaufman syndrome (MKKS) [MIM:236700]
63573 Q9NPJ1 (MKKS) C R 99 rs1297985227 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63574 Q9NPJ1 (MKKS) R L 155 rs138111422 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63575 Q9NPJ1 (MKKS) A P 181 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63576 Q9NPJ1 (MKKS) S P 236 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63577 Q9NPJ1 (MKKS) T A 237 rs760185677 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63578 Q9NPJ1 (MKKS) T P 237 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63579 Q9NPJ1 (MKKS) L P 277 rs74315398 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63580 Q9NPJ1 (MKKS) D A 286 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63581 Q9NPJ1 (MKKS) P L 299 rs756083063 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63582 Q9NPJ1 (MKKS) T P 325 rs137853156 Benign
63583 Q9NPJ1 (MKKS) I V 339 rs137853909 Benign
63584 Q9NPJ1 (MKKS) G E 345 rs779116830 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63585 Q9NPJ1 (MKKS) H R 395 rs912923677 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63586 Q9NPJ1 (MKKS) S P 460 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63587 Q9NPJ1 (MKKS) A T 488 rs61734546 Benign
63588 Q9NPJ1 (MKKS) D N 492 rs142327258 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63589 Q9NPJ1 (MKKS) C S 499 rs281797259 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63590 Q9NPJ1 (MKKS) S A 511 - Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63591 Q9NPJ1 (MKKS) R C 517 rs1547 Benign
63592 Q9NPJ1 (MKKS) R H 518 rs149051148 Disease: Bardet-Biedl syndrome 6 (BBS6) [MIM:605231]
63593 Q9NPJ1 (MKKS) G V 532 rs1545 Benign
63594 Q9NPL8 (TIMMDC1) N D 76 rs11539377 Benign
63595 Q9NPL8 (TIMMDC1) V I 217 rs57168946 Benign
63596 Q9NPP4 (NLRC4) T S 337 rs587777840 Disease: Autoinflamma tion with infantile enterocoliti s (AIFEC) [MIM:616050]
63597 Q9NPP4 (NLRC4) V A 341 rs587781260 Disease: Autoinflamma tion with infantile enterocoliti s (AIFEC) [MIM:616050]
63598 Q9NPP4 (NLRC4) H P 443 rs606231460 Disease: Familial cold autoinflamma tory syndrome 4 (FCAS4) [MIM:616115]
63599 Q9NPR2 (SEMA4B) S A 797 rs3751655 Benign
63600 Q9NPR9 (GPR108) Q R 36 rs340138 Benign
63601 Q9NPR9 (GPR108) L P 79 rs4807897 Benign
63602 Q9NPY3 (CD93) V A 318 - Benign
63603 Q9NPY3 (CD93) P S 541 rs3746731 Benign
63604 Q9NQ11 (ATP13A2) T M 12 rs151117874 Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63605 Q9NQ11 (ATP13A2) G S 49 rs56379718 Benign
63606 Q9NQ11 (ATP13A2) F L 182 - Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63607 Q9NQ11 (ATP13A2) R Q 294 rs56367069 Benign
63608 Q9NQ11 (ATP13A2) P L 389 rs56275621 Benign
63609 Q9NQ11 (ATP13A2) G R 504 rs121918227 Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63610 Q9NQ11 (ATP13A2) T I 517 rs1057519291 Disease: Spastic paraplegia 78, autosomal recessive (SPG78) [MIM:617225]
63611 Q9NQ11 (ATP13A2) G R 533 - Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63612 Q9NQ11 (ATP13A2) V G 578 rs56186751 Benign
63613 Q9NQ11 (ATP13A2) A T 746 rs147277743 Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63614 Q9NQ11 (ATP13A2) R W 762 rs55635527 Benign
63615 Q9NQ11 (ATP13A2) V I 776 rs56170027 Benign
63616 Q9NQ11 (ATP13A2) M R 854 rs587777053 Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63617 Q9NQ11 (ATP13A2) G R 877 rs144701072 Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63618 Q9NQ11 (ATP13A2) I F 946 rs55708915 Benign
63619 Q9NQ11 (ATP13A2) L R 1059 rs137853967 Disease: Kufor-Rakeb syndrome (KRS) [MIM:606693]
63620 Q9NQ25 (SLAMF7) H Y 175 rs35325048 Benign
63621 Q9NQ25 (SLAMF7) T M 302 rs2295617 Benign
63622 Q9NQ31 (AKIP1) R K 23 rs1133833 Benign
63623 Q9NQ31 (AKIP1) I T 132 rs35131475 Benign
63624 Q9NQ32 (C11orf16) P L 144 rs2568076 Benign
63625 Q9NQ32 (C11orf16) V L 210 rs11042127 Benign
63626 Q9NQ33 (ASCL3) R L 54 rs4909951 Benign
63627 Q9NQ36 (SCUBE2) T M 591 rs3751055 Benign
63628 Q9NQ36 (SCUBE2) Q H 712 rs7395988 Benign
63629 Q9NQ36 (SCUBE2) V G 752 rs12419343 Benign
63630 Q9NQ36 (SCUBE2) T S 791 rs3751057 Benign
63631 Q9NQ36 (SCUBE2) P R 843 rs3751059 Benign
63632 Q9NQ38 (SPINK5) Q R 267 rs6892205 Benign
63633 Q9NQ38 (SPINK5) A V 335 rs34482796 Benign
63634 Q9NQ38 (SPINK5) S N 368 rs2303063 Benign
63635 Q9NQ38 (SPINK5) D N 386 rs2303064 Benign
63636 Q9NQ38 (SPINK5) V M 395 rs17775319 Benign
63637 Q9NQ38 (SPINK5) K E 420 rs2303067 Benign
63638 Q9NQ38 (SPINK5) R H 441 rs34393923 Benign
63639 Q9NQ38 (SPINK5) I M 588 rs35877540 Benign
63640 Q9NQ38 (SPINK5) R Q 711 rs3777134 Benign
63641 Q9NQ38 (SPINK5) E D 825 rs2303070 Benign
63642 Q9NQ38 (SPINK5) S R 887 rs28408445 Benign
63643 Q9NQ38 (SPINK5) K E 969 rs3188691 Benign
63644 Q9NQ38 (SPINK5) H R 972 rs17705005 Benign
63645 Q9NQ40 (SLC52A3) W R 17 rs797045190 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63646 Q9NQ40 (SLC52A3) N S 21 rs199588390 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63647 Q9NQ40 (SLC52A3) P T 28 rs267606688 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63648 Q9NQ40 (SLC52A3) E K 36 rs267606686 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63649 Q9NQ40 (SLC52A3) V D 58 rs797045192 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63650 Q9NQ40 (SLC52A3) E K 71 rs267606683 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63651 Q9NQ40 (SLC52A3) I M 74 rs35655964 Benign
63652 Q9NQ40 (SLC52A3) R W 132 rs267606684 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63653 Q9NQ40 (SLC52A3) D G 174 rs6054614 Benign
63654 Q9NQ40 (SLC52A3) F L 224 rs267606685 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63655 Q9NQ40 (SLC52A3) P L 267 rs3746804 Benign
63656 Q9NQ40 (SLC52A3) T M 278 rs3746803 Benign
63657 Q9NQ40 (SLC52A3) I V 303 rs3746802 Benign
63658 Q9NQ40 (SLC52A3) L M 350 rs76947760 Benign
63659 Q9NQ40 (SLC52A3) S R 411 rs910857 Benign
63660 Q9NQ40 (SLC52A3) V A 413 rs267606687 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63661 Q9NQ40 (SLC52A3) F L 457 rs779750163 Disease: Brown- Vialetto-Van Laere syndrome 1 (BVVLS1) [MIM:211530]
63662 Q9NQ48 (LZTFL1) L P 87 rs515726135 Disease: Bardet-Biedl syndrome 17 (BBS17) [MIM:615994]
63663 Q9NQ48 (LZTFL1) K E 152 rs17855512 Benign
63664 Q9NQ48 (LZTFL1) D N 246 rs1129183 Benign
63665 Q9NQ48 (LZTFL1) Q R 251 rs17852322 Benign
63666 Q9NQ50 (MRPL40) L P 11 rs1128399 Benign
63667 Q9NQ50 (MRPL40) R H 129 rs7575 Benign
63668 Q9NQ55 (PPAN) G V 358 rs2305793 Benign
63669 Q9NQ55 (PPAN) Q R 408 rs11559188 Benign
63670 Q9NQ60 (EQTN) N D 101 rs12337286 Benign
63671 Q9NQ60 (EQTN) I T 110 rs12341576 Benign
63672 Q9NQ60 (EQTN) T K 274 rs41305329 Benign
63673 Q9NQ66 (PLCB1) E K 854 rs2076413 Benign
63674 Q9NQ75 (CASS4) R K 491 rs16979936 Benign
63675 Q9NQ75 (CASS4) T N 629 rs6069755 Benign
63676 Q9NQ75 (CASS4) P S 660 rs35031530 Benign
63677 Q9NQ75 (CASS4) Q H 780 rs7272702 Benign
63678 Q9NQ76 (MEPE) V I 330 rs17013285 Benign
63679 Q9NQ79 (CRTAC1) A T 253 rs35853031 Benign
63680 Q9NQ79 (CRTAC1) V M 569 rs2297935 Benign
63681 Q9NQ79 (CRTAC1) E K 658 rs56007204 Benign
63682 Q9NQ86 (TRIM36) K R 428 rs79290430 Benign
63683 Q9NQ86 (TRIM36) N S 456 rs17137481 Benign
63684 Q9NQ86 (TRIM36) D N 518 - Disease: Anencephaly (ANPH) [MIM:206500]
63685 Q9NQ86 (TRIM36) D N 678 rs2974617 Benign
63686 Q9NQ86 (TRIM36) Q E 725 rs3749745 Benign
63687 Q9NQ87 (HEYL) H R 47 rs784625 Benign
63688 Q9NQ89 (C12orf4) L P 328 rs1468772495 Disease: Mental retardation, autosomal recessive 66 (MRT66) [MIM:618221]
63689 Q9NQ90 (ANO2) V A 112 rs3741903 Benign
63690 Q9NQ90 (ANO2) P S 147 rs3741901 Benign
63691 Q9NQ90 (ANO2) M I 401 rs17788563 Benign
63692 Q9NQ90 (ANO2) S A 505 rs1860961 Benign
63693 Q9NQ92 (COPRS) S G 43 rs8068049 Benign
63694 Q9NQ94 (A1CF) V M 555 rs9073 Benign
63695 Q9NQ94 (A1CF) A S 558 rs11817448 Benign
63696 Q9NQA5 (TRPV5) A V 8 rs4252372 Benign
63697 Q9NQA5 (TRPV5) R H 154 rs4236480 Benign
63698 Q9NQA5 (TRPV5) A T 563 rs4252499 Benign
63699 Q9NQA5 (TRPV5) L F 712 rs4252509 Benign
63700 Q9NQB0 (TCF7L2) K N 346 rs2757884 Benign
63701 Q9NQC1 (JADE2) R G 581 rs34200923 Benign
63702 Q9NQC3 (RTN4) D V 357 rs11677099 Benign
63703 Q9NQC3 (RTN4) E Q 899 rs6757519 Benign
63704 Q9NQC3 (RTN4) S C 920 rs6757705 Benign
63705 Q9NQC7 (CYLD) E G 747 rs121908389 Disease: Multiple familial trichoepithe lioma 1 (MFT1) [MIM:601606]
63706 Q9NQC8 (IFT46) C Y 9 rs11552421 Benign
63707 Q9NQE7 (PRSS16) S I 104 rs5030965 Benign
63708 Q9NQE7 (PRSS16) A G 204 rs35466700 Benign
63709 Q9NQE9 (HINT3) G A 36 rs2295005 Benign
63710 Q9NQF3 (SERHL) E K 3 rs3213549 Benign
63711 Q9NQG6 (MIEF1) G R 78 rs2272830 Benign
63712 Q9NQG6 (MIEF1) T M 89 rs17001213 Benign
63713 Q9NQG6 (MIEF1) R W 169 rs2232088 Benign
63714 Q9NQG6 (MIEF1) D N 264 rs2232091 Benign
63715 Q9NQG7 (HPS4) E G 229 rs713998 Benign
63716 Q9NQG7 (HPS4) L V 443 rs2014410 Benign
63717 Q9NQG7 (HPS4) V M 552 rs5752330 Benign
63718 Q9NQG7 (HPS4) H Y 606 rs1894706 Benign
63719 Q9NQG7 (HPS4) Q H 625 rs1894704 Benign
63720 Q9NQH7 (XPNPEP3) I L 450 rs17002243 Benign
63721 Q9NQH7 (XPNPEP3) G C 453 rs267607179 Disease: Nephronophth isis-like nephropathy 1 (NPHPL1) [MIM:613159]
63722 Q9NQI0 (DDX4) G D 148 rs2306259 Benign
63723 Q9NQI0 (DDX4) I V 287 rs2305123 Benign
63724 Q9NQL9 (DMRT3) A T 164 rs10978001 Benign
63725 Q9NQL9 (DMRT3) N T 261 rs7854621 Benign
63726 Q9NQL9 (DMRT3) G V 356 rs16927037 Benign
63727 Q9NQM4 (DNAAF6) D Y 133 - Disease: Ciliary dyskinesia, primary, 36, X-linked (CILD36) [MIM:300991]
63728 Q9NQN1 (OR2S2) R G 17 rs2233558 Benign
63729 Q9NQN1 (OR2S2) V M 30 rs2233559 Benign
63730 Q9NQN1 (OR2S2) P S 89 rs2233560 Benign
63731 Q9NQN1 (OR2S2) R H 123 rs2233563 Benign
63732 Q9NQN1 (OR2S2) M V 143 rs2233564 Benign
63733 Q9NQN1 (OR2S2) T A 161 rs2233565 Benign
63734 Q9NQN1 (OR2S2) V A 287 rs2233570 Benign
63735 Q9NQR4 (NIT2) V A 231 rs17851799 Benign
63736 Q9NQR9 (G6PC2) I V 171 rs2232322 Benign
63737 Q9NQR9 (G6PC2) Y S 207 rs2232323 Benign
63738 Q9NQR9 (G6PC2) V L 219 rs492594 Benign
63739 Q9NQR9 (G6PC2) S P 324 rs2232326 Benign
63740 Q9NQR9 (G6PC2) P L 340 rs2232327 Benign
63741 Q9NQR9 (G6PC2) S C 342 rs2232328 Benign
63742 Q9NQS1 (AVEN) Q R 228 rs2241647 Benign
63743 Q9NQS3 (NECTIN3) R L 432 rs15611 Benign
63744 Q9NQS5 (GPR84) G D 37 rs11170883 Benign
63745 Q9NQS5 (GPR84) P R 367 - Benign
63746 Q9NQS7 (INCENP) G V 2 rs1792947 Benign
63747 Q9NQS7 (INCENP) R H 100 rs12281503 Benign
63748 Q9NQS7 (INCENP) A V 137 rs34441559 Benign
63749 Q9NQS7 (INCENP) M T 506 rs2277283 Benign
63750 Q9NQS7 (INCENP) E D 644 rs7129085 Benign
63751 Q9NQT4 (EXOSC5) T M 5 rs10853751 Benign
63752 Q9NQT4 (EXOSC5) C W 33 rs34500671 Benign
63753 Q9NQT5 (EXOSC3) G A 31 rs387907196 Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678]
63754 Q9NQT5 (EXOSC3) V F 80 rs374550999 Benign
63755 Q9NQT5 (EXOSC3) D A 132 rs141138948 Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678]
63756 Q9NQT5 (EXOSC3) A P 139 rs387907195 Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678]
63757 Q9NQT5 (EXOSC3) Y H 225 rs3208406 Benign
63758 Q9NQT5 (EXOSC3) W R 238 rs672601332 Disease: Pontocerebel lar hypoplasia 1B (PCH1B) [MIM:614678]
63759 Q9NQT6 (FSCN3) A S 24 rs3779536 Benign
63760 Q9NQT6 (FSCN3) H L 428 rs34394613 Benign
63761 Q9NQT8 (KIF13B) V I 1471 rs17526980 Benign
63762 Q9NQU5 (PAK6) M V 76 rs2412504 Benign
63763 Q9NQU5 (PAK6) R C 103 rs36081263 Benign
63764 Q9NQU5 (PAK6) T I 151 rs35593179 Benign
63765 Q9NQU5 (PAK6) E K 184 rs56349744 Benign
63766 Q9NQU5 (PAK6) G E 205 rs55920845 Benign
63767 Q9NQU5 (PAK6) P T 208 rs35501648 Benign
63768 Q9NQU5 (PAK6) T M 210 rs34869667 Benign
63769 Q9NQU5 (PAK6) H R 215 rs3743135 Benign
63770 Q9NQU5 (PAK6) P L 337 rs3743137 Benign
63771 Q9NQU5 (PAK6) A V 376 rs55806501 Benign
63772 Q9NQU5 (PAK6) E K 475 rs34445577 Benign
63773 Q9NQV6 (PRDM10) A T 22 rs11221912 Benign
63774 Q9NQV6 (PRDM10) T A 573 rs2241571 Benign
63775 Q9NQV7 (PRDM9) Y H 335 - Benign
63776 Q9NQV7 (PRDM9) T S 681 - Benign
63777 Q9NQV7 (PRDM9) K E 788 - Benign
63778 Q9NQV7 (PRDM9) N H 790 - Benign
63779 Q9NQV7 (PRDM9) S R 814 - Benign
63780 Q9NQV8 (PRDM8) F L 261 rs863225286 Disease: Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640]
63781 Q9NQW1 (SEC31B) V A 89 rs3763695 Benign
63782 Q9NQW1 (SEC31B) Y C 100 rs7074707 Benign
63783 Q9NQW1 (SEC31B) L F 129 rs3793706 Benign
63784 Q9NQW1 (SEC31B) S A 332 rs2295774 Benign
63785 Q9NQW1 (SEC31B) P S 372 rs2295772 Benign
63786 Q9NQW1 (SEC31B) R Q 433 rs2295771 Benign
63787 Q9NQW1 (SEC31B) R T 478 rs11819496 Benign
63788 Q9NQW1 (SEC31B) S R 527 rs17113157 Benign
63789 Q9NQW1 (SEC31B) A S 1169 rs2298075 Benign
63790 Q9NQW5 (PRDM7) D E 90 rs12925933 Benign
63791 Q9NQW5 (PRDM7) R K 131 rs2078478 Benign
63792 Q9NQW5 (PRDM7) N K 435 rs7206111 Benign
63793 Q9NQW6 (ANLN) S W 65 rs3735400 Benign
63794 Q9NQW6 (ANLN) R K 185 rs197367 Benign
63795 Q9NQW6 (ANLN) R C 431 rs587777741 Disease: Focal segmental glomeruloscl erosis 8 (FSGS8) [MIM:616032]
63796 Q9NQW6 (ANLN) G C 618 - Disease: Focal segmental glomeruloscl erosis 8 (FSGS8) [MIM:616032]
63797 Q9NQW8 (CNGB3) R H 25 rs141098074 Benign
63798 Q9NQW8 (CNGB3) N S 27 rs35807406 Benign
63799 Q9NQW8 (CNGB3) K E 148 rs369138501 Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63800 Q9NQW8 (CNGB3) S F 156 rs139207764 Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63801 Q9NQW8 (CNGB3) C W 234 rs6471482 Benign
63802 Q9NQW8 (CNGB3) T P 298 rs4961206 Benign
63803 Q9NQW8 (CNGB3) I V 307 rs13265557 Benign
63804 Q9NQW8 (CNGB3) P L 309 rs1554612145 Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63805 Q9NQW8 (CNGB3) S F 435 rs121918344 Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63806 Q9NQW8 (CNGB3) Y D 469 rs35365413 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
63807 Q9NQW8 (CNGB3) F N 525 - Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63808 Q9NQW8 (CNGB3) G C 558 rs749413012 Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63809 Q9NQW8 (CNGB3) L F 595 rs1554604849 Disease: Achromatopsi a 3 (ACHM3) [MIM:262300]
63810 Q9NQW8 (CNGB3) P S 750 rs3735971 Benign
63811 Q9NQW8 (CNGB3) E G 755 rs3735972 Benign
63812 Q9NQX0 (PRDM6) Q R 462 rs879253872 Disease: Patent ductus arteriosus 3 (PDA3) [MIM:617039]
63813 Q9NQX0 (PRDM6) R Q 549 rs879255278 Disease: Patent ductus arteriosus 3 (PDA3) [MIM:617039]
63814 Q9NQX1 (PRDM5) Y C 107 rs387907111 Disease: Brittle cornea syndrome 2 (BCS2) [MIM:614170]
63815 Q9NQX3 (GPHN) G D 375 - Disease: Molybdenum cofactor deficiency, complementat ion group C (MOCODC) [MIM:615501]
63816 Q9NQX3 (GPHN) D A 580 rs397518420 Disease: Molybdenum cofactor deficiency, complementat ion group C (MOCODC) [MIM:615501]
63817 Q9NQX4 (MYO5C) R C 172 rs55686434 Benign
63818 Q9NQX4 (MYO5C) L P 522 - Benign
63819 Q9NQX4 (MYO5C) L S 634 - Benign
63820 Q9NQX4 (MYO5C) E K 1075 rs3825801 Benign
63821 Q9NQX4 (MYO5C) P L 1396 rs17650440 Benign
63822 Q9NQX7 (ITM2C) G S 53 rs2289235 Benign
63823 Q9NQZ2 (UTP3) T M 23 rs16845385 Benign
63824 Q9NQZ5 (STARD7) R P 140 rs2276650 Benign
63825 Q9NQZ6 (ZC4H2) R K 18 rs1057520299 Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580]
63826 Q9NQZ6 (ZC4H2) V L 63 rs398122938 Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580]
63827 Q9NQZ6 (ZC4H2) L H 66 rs1057520297 Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580]
63828 Q9NQZ6 (ZC4H2) R Q 198 rs879255235 Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580]
63829 Q9NQZ6 (ZC4H2) P S 201 rs398122939 Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580]
63830 Q9NQZ6 (ZC4H2) R W 213 rs879255236 Disease: Wieacker- Wolf syndrome (WRWF) [MIM:314580]
63831 Q9NQZ7 (ENTPD7) V A 276 rs11190245 Benign
63832 Q9NQZ8 (ZNF71) R G 27 rs10405299 Benign
63833 Q9NQZ8 (ZNF71) V I 105 rs2072501 Benign
63834 Q9NQZ8 (ZNF71) P L 121 rs35392779 Benign
63835 Q9NR00 (TCIM) V I 10 rs6474226 Benign
63836 Q9NR12 (PDLIM7) A T 326 rs2306764 Benign
63837 Q9NR16 (CD163L1) L M 523 rs6488268 Benign
63838 Q9NR16 (CD163L1) D N 578 rs4072797 Benign
63839 Q9NR16 (CD163L1) G A 582 rs4072796 Benign
63840 Q9NR16 (CD163L1) G S 1055 rs36206713 Benign
63841 Q9NR16 (CD163L1) M T 1108 rs35480970 Benign
63842 Q9NR20 (DYRK4) A T 61 rs12306130 Benign
63843 Q9NR20 (DYRK4) A S 70 - Benign
63844 Q9NR20 (DYRK4) V I 95 rs746486416 Benign
63845 Q9NR20 (DYRK4) N S 189 rs3741927 Benign
63846 Q9NR20 (DYRK4) D V 454 rs1801016 Benign
63847 Q9NR23 (GDF3) R Q 195 rs146973734 Disease: Microphthalm ia, isolated, 7 (MCOP7) [MIM:613704]
63848 Q9NR23 (GDF3) G R 213 rs12819884 Benign
63849 Q9NR23 (GDF3) R C 266 rs140926412 Disease: Microphthalm ia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]
63850 Q9NR23 (GDF3) R W 274 rs387906946 Disease: Microphthalm ia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]
63851 Q9NR23 (GDF3) L P 305 rs387906945 Disease: Microphthalm ia, isolated, 7 (MCOP7) [MIM:613704]
63852 Q9NR23 (GDF3) V L 328 rs2302516 Benign
63853 Q9NR28 (DIABLO) S L 126 rs387906893 Disease: Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152]
63854 Q9NR30 (DDX21) T I 27 rs17556220 Benign
63855 Q9NR33 (POLE4) G V 17 rs12366 Benign
63856 Q9NR45 (NANS) H N 29 rs1277263564 Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
63857 Q9NR45 (NANS) E D 68 rs1058446 Benign
63858 Q9NR45 (NANS) G V 133 rs878852980 Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
63859 Q9NR45 (NANS) R H 151 rs140402727 Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
63860 Q9NR45 (NANS) Y H 188 rs878852981 Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
63861 Q9NR45 (NANS) P L 189 rs1024025721 Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
63862 Q9NR45 (NANS) R C 237 rs878852982 Disease: Spondyloepim etaphyseal dysplasia, Genevieve type (SEMDG) [MIM:610442]
63863 Q9NR46 (SH3GLB2) A V 305 rs17455482 Benign
63864 Q9NR46 (SH3GLB2) P L 319 rs17455475 Benign
63865 Q9NR48 (ASH1L) S G 277 rs186255422 Benign
63866 Q9NR48 (ASH1L) S P 1416 rs13373934 Benign
63867 Q9NR48 (ASH1L) T A 1771 rs4971053 Benign
63868 Q9NR48 (ASH1L) A P 2791 rs1553241570 Disease: Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]
63869 Q9NR50 (EIF2B3) L Q 27 rs397514647 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
63870 Q9NR50 (EIF2B3) G E 47 - Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
63871 Q9NR50 (EIF2B3) A V 87 rs113994022 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
63872 Q9NR50 (EIF2B3) R Q 225 rs113994024 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
63873 Q9NR50 (EIF2B3) D E 288 rs3738247 Benign
63874 Q9NR50 (EIF2B3) I T 346 rs119474039 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
63875 Q9NR55 (BATF3) V I 11 rs2202683 Benign
63876 Q9NR61 (DLL4) A P 121 rs796065350 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63877 Q9NR61 (DLL4) R C 186 rs796065348 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63878 Q9NR61 (DLL4) F L 195 rs796065351 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63879 Q9NR61 (DLL4) P T 267 rs796065349 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63880 Q9NR61 (DLL4) C R 390 rs796065347 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63881 Q9NR61 (DLL4) C Y 390 rs796065346 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63882 Q9NR61 (DLL4) C W 455 rs796065345 Disease: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]
63883 Q9NR63 (CYP26B1) H R 64 - Benign
63884 Q9NR63 (CYP26B1) S P 146 rs281875232 Disease: Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]
63885 Q9NR63 (CYP26B1) V M 181 rs142999899 Benign
63886 Q9NR63 (CYP26B1) A V 185 rs765423228 Benign
63887 Q9NR63 (CYP26B1) R H 191 rs76025186 Benign
63888 Q9NR63 (CYP26B1) D N 227 rs143738797 Benign
63889 Q9NR63 (CYP26B1) L S 264 rs2241057 Benign
63890 Q9NR63 (CYP26B1) R L 363 rs281875231 Disease: Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]
63891 Q9NR63 (CYP26B1) E K 380 rs2286965 Benign
63892 Q9NR63 (CYP26B1) A G 420 rs7568553 Benign
63893 Q9NR63 (CYP26B1) R C 473 rs61751056 Benign
63894 Q9NR63 (CYP26B1) V I 479 rs148075682 Benign
63895 Q9NR71 (ASAH2) T A 51 rs7067625 Benign
63896 Q9NR71 (ASAH2) A S 346 rs993869 Benign
63897 Q9NR80 (ARHGEF4) D H 33 rs10188052 Benign
63898 Q9NR81 (ARHGEF3) K R 13 rs3732507 Benign
63899 Q9NR81 (ARHGEF3) L V 335 rs3772219 Benign
63900 Q9NR82 (KCNQ5) V G 145 rs1135401955 Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
63901 Q9NR82 (KCNQ5) L I 341 rs1135401956 Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
63902 Q9NR82 (KCNQ5) P R 369 rs1135401958 Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
63903 Q9NR82 (KCNQ5) S I 429 rs1135401957 Disease: Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]
63904 Q9NR83 (SLC2A4RG) E D 233 rs8957 Benign
63905 Q9NR96 (TLR9) R C 5 rs5743842 Benign
63906 Q9NR96 (TLR9) H Q 79 rs5743843 Benign
63907 Q9NR96 (TLR9) R Q 863 rs5743845 Benign
63908 Q9NR96 (TLR9) A T 882 rs5743846 Benign
63909 Q9NR97 (TLR8) M V 10 rs5744077 Benign
63910 Q9NR97 (TLR8) R Q 715 rs5744082 Benign
63911 Q9NR99 (MXRA5) V L 764 rs5983120 Benign
63912 Q9NR99 (MXRA5) I V 824 rs5983119 Benign
63913 Q9NR99 (MXRA5) S N 862 - Disease: Lung cancer (LNCR) [MIM:211980]
63914 Q9NR99 (MXRA5) A V 1128 rs1635246 Benign
63915 Q9NR99 (MXRA5) R H 1163 rs139106444 Benign
63916 Q9NR99 (MXRA5) G D 1394 rs1726199 Benign
63917 Q9NR99 (MXRA5) T A 1484 rs12396910 Benign
63918 Q9NR99 (MXRA5) P S 1665 rs1974522 Benign
63919 Q9NR99 (MXRA5) G S 2000 rs1635242 Benign
63920 Q9NR99 (MXRA5) E D 2426 rs148675322 Benign
63921 Q9NR99 (MXRA5) L V 2531 rs1726208 Benign
63922 Q9NR99 (MXRA5) G W 2663 rs143264543 Benign
63923 Q9NRA0 (SPHK2) R Q 652 rs11881285 Benign
63924 Q9NRA2 (SLC17A5) R C 39 rs80338794 Disease: Salla disease (SD) [MIM:604369]
63925 Q9NRA2 (SLC17A5) K E 136 rs80338795 Disease: Salla disease (SD) [MIM:604369]
63926 Q9NRA2 (SLC17A5) H R 183 rs119491109 Disease: Infantile sialic acid storage disorder (ISSD) [MIM:269920]
63927 Q9NRA2 (SLC17A5) V I 296 rs16883930 Benign
63928 Q9NRA2 (SLC17A5) P R 334 rs119491110 Disease: Infantile sialic acid storage disorder (ISSD) [MIM:269920]
63929 Q9NRA2 (SLC17A5) G V 371 - Disease: Infantile sialic acid storage disorder (ISSD) [MIM:269920]
63930 Q9NRB3 (CHST12) P H 52 rs3735099 Benign
63931 Q9NRB3 (CHST12) T S 61 rs3735100 Benign
63932 Q9NRB3 (CHST12) P L 94 rs12536223 Benign
63933 Q9NRB3 (CHST12) R S 109 rs17132395 Benign
63934 Q9NRB3 (CHST12) A P 145 rs17132399 Benign
63935 Q9NRC1 (ST7) A T 186 rs201219065 Benign
63936 Q9NRC1 (ST7) I V 361 rs1362000016 Benign
63937 Q9NRC6 (SPTBN5) R H 1345 rs2290559 Benign
63938 Q9NRC6 (SPTBN5) R T 1367 rs2290558 Benign
63939 Q9NRC6 (SPTBN5) Q R 2862 rs1456235 Benign
63940 Q9NRC6 (SPTBN5) A G 3275 rs1197660 Benign
63941 Q9NRC9 (OTOR) L P 31 rs6135876 Benign
63942 Q9NRD0 (FBXO8) I M 51 rs17857220 Benign
63943 Q9NRD0 (FBXO8) Y H 156 rs17854000 Benign
63944 Q9NRD1 (FBXO6) R Q 60 rs3125818 Benign
63945 Q9NRD1 (FBXO6) P T 201 rs2294639 Benign
63946 Q9NRD8 (DUOX2) Q H 36 - Disease: Thyroid dyshormonoge nesis 6 (TDH6) [MIM:607200]
63947 Q9NRD8 (DUOX2) P L 138 rs2001616 Benign
63948 Q9NRD8 (DUOX2) R W 376 rs119472029 Disease: Thyroid dyshormonoge nesis 6 (TDH6) [MIM:607200]
63949 Q9NRD8 (DUOX2) H R 678 rs57659670 Benign
63950 Q9NRD8 (DUOX2) S L 1067 rs269868 Benign
63951 Q9NRD8 (DUOX2) G S 1518 rs368512412 Disease: Thyroid dyshormonoge nesis 6 (TDH6) [MIM:607200]
63952 Q9NRD9 (DUOX1) I T 962 rs16939743 Benign
63953 Q9NRD9 (DUOX1) C R 1026 rs16939752 Benign
63954 Q9NRD9 (DUOX1) L F 1178 rs2458236 Benign
63955 Q9NRE1 (MMP26) K E 43 rs2499953 Benign
63956 Q9NRE1 (MMP26) I M 260 rs16908114 Benign
63957 Q9NRE2 (TSHZ2) R S 113 rs739869 Benign
63958 Q9NRE2 (TSHZ2) A T 681 rs6097319 Benign
63959 Q9NRF2 (SH2B1) T A 484 rs7498665 Benign
63960 Q9NRF2 (SH2B1) V A 541 rs17850682 Benign
63961 Q9NRF9 (POLE3) T A 83 rs36023979 Benign
63962 Q9NRF9 (POLE3) D A 126 rs34852828 Benign
63963 Q9NRF9 (POLE3) E D 135 rs35933626 Benign
63964 Q9NRG0 (CHRAC1) C Y 55 rs2231522 Benign
63965 Q9NRG0 (CHRAC1) H R 126 rs2231524 Benign
63966 Q9NRG4 (SMYD2) G E 165 rs1134647 Benign
63967 Q9NRG4 (SMYD2) I M 430 rs11120301 Benign
63968 Q9NRG7 (SDR39U1) I L 79 rs11625819 Benign
63969 Q9NRG7 (SDR39U1) G V 181 rs11538256 Benign
63970 Q9NRG7 (SDR39U1) L F 232 rs3211056 Benign
63971 Q9NRG7 (SDR39U1) Q R 270 rs1043831 Benign
63972 Q9NRG9 (AAAS) Q K 15 rs121918549 Disease: Achalasia-ad disonianism- alacrima syndrome (AAAS) [MIM:231550]
63973 Q9NRG9 (AAAS) K M 108 rs13330 Benign
63974 Q9NRG9 (AAAS) H R 160 rs1297831120 Disease: Achalasia-ad disonianism- alacrima syndrome (AAAS) [MIM:231550]
63975 Q9NRG9 (AAAS) S P 263 rs121918550 Disease: Achalasia-ad disonianism- alacrima syndrome (AAAS) [MIM:231550]
63976 Q9NRH1 (YAE1) K E 68 rs6947660 Benign
63977 Q9NRH2 (SNRK) L S 260 rs35624204 Benign
63978 Q9NRH2 (SNRK) P S 391 rs56104180 Benign
63979 Q9NRH3 (TUBG2) M V 413 rs1046097 Benign
63980 Q9NRI5 (DISC1) G V 5 rs3738400 Benign
63981 Q9NRI5 (DISC1) A V 116 rs56020408 Benign
63982 Q9NRI5 (DISC1) R Q 264 rs3738401 Benign
63983 Q9NRI5 (DISC1) T N 328 rs55795950 Benign
63984 Q9NRI5 (DISC1) L F 330 rs34622148 Benign
63985 Q9NRI5 (DISC1) G R 531 rs56229136 Benign
63986 Q9NRI5 (DISC1) L F 607 rs6675281 Benign
63987 Q9NRI5 (DISC1) S C 704 rs821616 Benign
63988 Q9NRJ1 (C8orf17) T M 19 rs2233233 Benign
63989 Q9NRJ1 (C8orf17) K R 49 rs2233235 Benign
63990 Q9NRJ1 (C8orf17) T I 57 rs2233236 Benign
63991 Q9NRJ4 (TULP4) R S 199 rs705956 Benign
63992 Q9NRJ4 (TULP4) G S 214 rs35262826 Benign
63993 Q9NRJ4 (TULP4) S N 522 rs12206717 Benign
63994 Q9NRJ4 (TULP4) D N 979 rs34622886 Benign
63995 Q9NRJ4 (TULP4) V I 1084 rs34559793 Benign
63996 Q9NRJ4 (TULP4) P T 1281 rs3749852 Benign
63997 Q9NRJ7 (PCDHB16) D E 91 rs17096969 Benign
63998 Q9NRJ7 (PCDHB16) V L 347 rs28664170 Benign
63999 Q9NRJ7 (PCDHB16) A T 508 rs17844648 Benign
64000 Q9NRJ7 (PCDHB16) R Q 525 rs17844651 Benign
64001 Q9NRJ7 (PCDHB16) S G 532 rs2697532 Benign
64002 Q9NRK6 (ABCB10) A S 150 rs4148756 Benign
64003 Q9NRK6 (ABCB10) R G 242 rs17584642 Benign
64004 Q9NRK6 (ABCB10) D N 545 rs35698797 Benign
64005 Q9NRL2 (BAZ1A) D E 344 rs1133285 Benign
64006 Q9NRL2 (BAZ1A) N K 1366 rs1044140 Benign
64007 Q9NRL3 (STRN4) V I 568 rs10409124 Benign
64008 Q9NRM0 (SLC2A9) S N 22 - Benign
64009 Q9NRM0 (SLC2A9) G R 25 rs2276961 Benign
64010 Q9NRM0 (SLC2A9) L R 75 rs863225072 Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076]
64011 Q9NRM0 (SLC2A9) T M 125 rs181509591 Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076]
64012 Q9NRM0 (SLC2A9) V M 169 rs144196049 Benign
64013 Q9NRM0 (SLC2A9) R C 171 rs776127501 Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076]
64014 Q9NRM0 (SLC2A9) E D 191 rs376990050 Benign
64015 Q9NRM0 (SLC2A9) R C 198 rs121908322 Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076]
64016 Q9NRM0 (SLC2A9) G R 216 rs561633150 Benign
64017 Q9NRM0 (SLC2A9) T M 275 rs112404957 Benign
64018 Q9NRM0 (SLC2A9) D H 281 rs73225891 Benign
64019 Q9NRM0 (SLC2A9) V I 282 rs16890979 Benign
64020 Q9NRM0 (SLC2A9) R H 294 rs3733591 Benign
64021 Q9NRM0 (SLC2A9) R H 300 rs145688560 Benign
64022 Q9NRM0 (SLC2A9) P L 350 rs2280205 Benign
64023 Q9NRM0 (SLC2A9) R W 380 rs121908321 Disease: Hypouricemia renal 2 (RHUC2) [MIM:612076]
64024 Q9NRM1 (ENAM) S L 216 rs867263935 Disease: Amelogenesis imperfecta 1C (AI1C) [MIM:204650]
64025 Q9NRM1 (ENAM) F L 576 rs2609428 Benign
64026 Q9NRM1 (ENAM) I T 648 rs7671281 Benign
64027 Q9NRM1 (ENAM) P L 724 rs3796703 Benign
64028 Q9NRM1 (ENAM) R Q 763 rs3796704 Benign
64029 Q9NRM1 (ENAM) D G 767 rs3796705 Benign
64030 Q9NRM2 (ZNF277) V I 174 rs34571830 Benign
64031 Q9NRM2 (ZNF277) V M 364 rs11539696 Benign
64032 Q9NRM6 (IL17RB) G R 177 rs2232337 Benign
64033 Q9NRM6 (IL17RB) A V 209 rs2232340 Benign
64034 Q9NRM6 (IL17RB) R Q 232 rs2232343 Benign
64035 Q9NRM6 (IL17RB) F L 278 rs2232346 Benign
64036 Q9NRM6 (IL17RB) I T 451 rs2232350 Benign
64037 Q9NRM6 (IL17RB) N S 458 rs2232351 Benign
64038 Q9NRM6 (IL17RB) C R 499 rs28385751 Benign
64039 Q9NRM7 (LATS2) S L 91 rs55842804 Benign
64040 Q9NRM7 (LATS2) A V 324 rs558614 Benign
64041 Q9NRM7 (LATS2) G S 363 rs2770928 Benign
64042 Q9NRM7 (LATS2) I V 799 rs35368391 Benign
64043 Q9NRM7 (LATS2) A G 1014 rs45523141 Benign
64044 Q9NRM7 (LATS2) L P 1025 rs56116059 Benign
64045 Q9NRN9 (METTL5) V G 202 rs1051387 Benign
64046 Q9NRP2 (CMC2) T S 11 rs2303217 Benign
64047 Q9NRP7 (STK36) I M 90 rs55706732 Benign
64048 Q9NRP7 (STK36) R W 240 rs35038757 Benign
64049 Q9NRP7 (STK36) K R 295 rs1863703 Benign
64050 Q9NRP7 (STK36) D N 329 rs34027859 Benign
64051 Q9NRP7 (STK36) L V 462 rs45586733 Benign
64052 Q9NRP7 (STK36) K N 463 rs17856747 Benign
64053 Q9NRP7 (STK36) F S 476 rs34128793 Benign
64054 Q9NRP7 (STK36) R W 477 rs16859180 Benign
64055 Q9NRP7 (STK36) R Q 583 rs1344642 Benign
64056 Q9NRP7 (STK36) Q P 638 rs6709303 Benign
64057 Q9NRP7 (STK36) L P 672 rs35448374 Benign
64058 Q9NRP7 (STK36) S T 767 rs17856748 Benign
64059 Q9NRP7 (STK36) T A 816 rs34271431 Benign
64060 Q9NRP7 (STK36) R Q 839 rs13023540 Benign
64061 Q9NRP7 (STK36) L V 840 rs36099639 Benign
64062 Q9NRP7 (STK36) G D 1003 rs1863704 Benign
64063 Q9NRP7 (STK36) V I 1004 rs55633575 Benign
64064 Q9NRP7 (STK36) Y C 1111 rs56278660 Benign
64065 Q9NRP7 (STK36) R Q 1112 rs12993599 Benign
64066 Q9NRP7 (STK36) H P 1313 - Benign
64067 Q9NRQ2 (PLSCR4) N S 34 rs3762685 Benign
64068 Q9NRQ2 (PLSCR4) I V 155 rs1061409 Benign
64069 Q9NRR1 (CYTL1) S L 51 rs35755546 Benign
64070 Q9NRR1 (CYTL1) R C 136 rs11722554 Benign
64071 Q9NRR2 (TPSG1) M V 60 rs760357 Benign
64072 Q9NRR2 (TPSG1) I M 126 - Benign
64073 Q9NRR2 (TPSG1) S T 132 - Benign
64074 Q9NRR2 (TPSG1) W S 160 rs4984638 Benign
64075 Q9NRR2 (TPSG1) L I 204 - Benign
64076 Q9NRR2 (TPSG1) T I 239 rs11248860 Benign
64077 Q9NRR2 (TPSG1) L F 288 rs1004041 Benign
64078 Q9NRR4 (DROSHA) P T 67 rs35342496 Benign
64079 Q9NRR4 (DROSHA) S L 321 rs55656741 Benign
64080 Q9NRR5 (UBQLN4) D A 90 rs1465567777 Disease: Amyotrophic lateral sclerosis (ALS) [MIM:105400]
64081 Q9NRR5 (UBQLN4) I M 495 rs2297792 Benign
64082 Q9NRR6 (INPP5E) I M 201 rs36064831 Benign
64083 Q9NRR6 (INPP5E) G R 286 rs757936530 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64084 Q9NRR6 (INPP5E) V M 303 rs746212325 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64085 Q9NRR6 (INPP5E) R S 345 - Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64086 Q9NRR6 (INPP5E) R C 378 rs121918130 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64087 Q9NRR6 (INPP5E) T N 426 - Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64088 Q9NRR6 (INPP5E) R Q 435 rs121918129 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64089 Q9NRR6 (INPP5E) R W 512 rs374152018 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64090 Q9NRR6 (INPP5E) R W 515 rs13297509 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64091 Q9NRR6 (INPP5E) G A 522 rs771866500 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64092 Q9NRR6 (INPP5E) Y D 534 - Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64093 Q9NRR6 (INPP5E) R H 563 rs121918128 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64094 Q9NRR6 (INPP5E) K E 580 - Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64095 Q9NRR6 (INPP5E) R C 585 rs763992407 Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64096 Q9NRR6 (INPP5E) R Q 621 - Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64097 Q9NRR6 (INPP5E) C R 641 - Disease: Joubert syndrome 1 (JBTS1) [MIM:213300]
64098 Q9NRS4 (TMPRSS4) R Q 177 rs1894176 Benign
64099 Q9NRS4 (TMPRSS4) K E 198 rs12270001 Benign
64100 Q9NRS4 (TMPRSS4) V G 208 rs1941635 Benign
64101 Q9NRS6 (SNX15) R C 334 rs495820 Benign
64102 Q9NRU3 (CNNM1) R Q 819 rs2298316 Benign
64103 Q9NRV9 (HEBP1) E D 183 rs1941 Benign
64104 Q9NRW4 (DUSP22) R H 119 rs7768224 Benign
64105 Q9NRW7 (VPS45) T N 224 rs879255237 Disease: Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]
64106 Q9NRW7 (VPS45) E K 238 rs782269909 Disease: Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]
64107 Q9NRX1 (PNO1) R G 11 rs2044693 Benign
64108 Q9NRX1 (PNO1) G A 71 rs7590838 Benign
64109 Q9NRX5 (SERINC1) L V 199 rs13210569 Benign
64110 Q9NRX5 (SERINC1) F V 216 rs13210446 Benign
64111 Q9NRX5 (SERINC1) S G 225 rs17260829 Benign
64112 Q9NRY6 (PLSCR3) V I 293 rs3744549 Benign
64113 Q9NS18 (GLRX2) K E 95 rs34237236 Benign
64114 Q9NS23 (RASSF1) K Q 21 rs4688725 Benign
64115 Q9NS23 (RASSF1) R C 53 rs201618726 Benign
64116 Q9NS23 (RASSF1) D E 133 rs76335415 Benign
64117 Q9NS23 (RASSF1) S F 135 rs934370004 Benign
64118 Q9NS23 (RASSF1) A S 137 rs2073498 Benign
64119 Q9NS23 (RASSF1) H R 319 rs12488879 Benign
64120 Q9NS23 (RASSF1) Y C 329 rs782655006 Benign
64121 Q9NS25 (SPANXB1) L V 74 rs878856926 Benign
64122 Q9NS39 (ADARB2) A T 44 rs3793733 Benign
64123 Q9NS39 (ADARB2) A T 626 rs2271275 Benign
64124 Q9NS40 (KCNH7) G A 958 rs6757850 Benign
64125 Q9NS56 (TOPORS) A T 154 rs17855104 Benign
64126 Q9NS56 (TOPORS) E K 517 rs17855103 Benign
64127 Q9NS56 (TOPORS) N D 749 rs17857515 Benign
64128 Q9NS56 (TOPORS) P R 812 rs36034138 Benign
64129 Q9NS62 (THSD1) V G 125 rs13313279 Benign
64130 Q9NS62 (THSD1) R G 224 rs9536062 Benign
64131 Q9NS62 (THSD1) D H 491 rs56013270 Benign
64132 Q9NS62 (THSD1) K R 768 rs9536041 Benign
64133 Q9NS68 (TNFRSF19) S T 31 rs9550987 Benign
64134 Q9NS68 (TNFRSF19) A V 159 rs61756242 Benign
64135 Q9NS68 (TNFRSF19) V I 405 rs3751362 Benign
64136 Q9NS73 (MBIP) L H 7 rs2899849 Benign
64137 Q9NS73 (MBIP) R S 22 rs3168891 Benign
64138 Q9NS82 (SLC7A10) E D 112 rs79717007 Benign
64139 Q9NS82 (SLC7A10) R Q 413 rs34663170 Benign
64140 Q9NS86 (LANCL2) T P 56 rs2272263 Benign
64141 Q9NS86 (LANCL2) I V 74 rs6961412 Benign
64142 Q9NS87 (KIF15) A V 211 rs34862960 Benign
64143 Q9NS87 (KIF15) T S 996 rs11710339 Benign
64144 Q9NS87 (KIF15) L M 1206 rs3804583 Benign
64145 Q9NS87 (KIF15) E D 1272 rs17076986 Benign
64146 Q9NS91 (RAD18) E A 6 rs45520133 Benign
64147 Q9NS91 (RAD18) R Q 302 rs373572 Benign
64148 Q9NS91 (RAD18) I V 307 rs45569933 Benign
64149 Q9NS93 (TM7SF3) P R 179 rs34735713 Benign
64150 Q9NS93 (TM7SF3) P L 248 rs10771314 Benign
64151 Q9NS98 (SEMA3G) S N 180 rs35811072 Benign
64152 Q9NS98 (SEMA3G) I T 232 rs2276833 Benign
64153 Q9NS98 (SEMA3G) V I 332 rs34540591 Benign
64154 Q9NSA0 (SLC22A11) V G 155 rs12785832 Benign
64155 Q9NSA1 (FGF21) G S 141 rs41308776 Benign
64156 Q9NSA1 (FGF21) L P 174 rs739320 Benign
64157 Q9NSB2 (KRT84) R Q 184 rs1613931 Benign
64158 Q9NSB2 (KRT84) S N 198 rs1732301 Benign
64159 Q9NSB2 (KRT84) I V 206 rs2245203 Benign
64160 Q9NSB2 (KRT84) C R 446 rs951773 Benign
64161 Q9NSB2 (KRT84) G R 497 rs7297413 Benign
64162 Q9NSB4 (KRT82) E Q 219 rs1791634 Benign
64163 Q9NSB4 (KRT82) E D 452 rs1732263 Benign
64164 Q9NSB4 (KRT82) T M 458 rs2658658 Benign
64165 Q9NSB8 (HOMER2) R P 196 rs864309524 Disease: Deafness, autosomal dominant, 68 (DFNA68) [MIM:616707]
64166 Q9NSB8 (HOMER2) R H 219 rs7175005 Benign
64167 Q9NSB8 (HOMER2) I S 239 rs17158223 Benign
64168 Q9NSC2 (SALL1) S G 159 rs13336129 Benign
64169 Q9NSC2 (SALL1) G E 1265 rs149302006 Benign
64170 Q9NSC5 (HOMER3) S R 342 rs1059240 Benign
64171 Q9NSC7 (ST6GALNAC) V A 80 rs8077382 Benign
64172 Q9NSC7 (ST6GALNAC) I V 424 rs35948039 Benign
64173 Q9NSD5 (SLC6A13) V I 426 rs577294 Benign
64174 Q9NSD9 (FARSB) C R 76 rs1419129874 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64175 Q9NSD9 (FARSB) F S 252 rs1466642025 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64176 Q9NSD9 (FARSB) T M 256 rs753710639 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64177 Q9NSD9 (FARSB) K E 262 rs1553554543 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64178 Q9NSD9 (FARSB) E K 285 rs767956337 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64179 Q9NSD9 (FARSB) R Q 305 rs773579570 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64180 Q9NSD9 (FARSB) R Q 401 rs1553553086 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64181 Q9NSD9 (FARSB) T P 461 rs1396171148 Disease: Rajab interstitial lung disease with brain calcificatio ns (RILDBC) [MIM:613658]
64182 Q9NSD9 (FARSB) V I 585 rs7185 Benign
64183 Q9NSE4 (IARS2) A V 14 rs2577154 Benign
64184 Q9NSE4 (IARS2) I V 522 rs11800305 Benign
64185 Q9NSG2 (C1orf112) A S 481 rs2272920 Benign
64186 Q9NSI2 (FAM207A) V L 212 rs3737075 Benign
64187 Q9NSI5 (IGSF5) R T 49 rs2205204 Benign
64188 Q9NSI5 (IGSF5) N K 156 rs11908882 Benign
64189 Q9NSI5 (IGSF5) R W 170 rs8129968 Benign
64190 Q9NSI5 (IGSF5) D E 350 rs2837225 Benign
64191 Q9NSI6 (BRWD1) Q E 83 rs2056844 Benign
64192 Q9NSI6 (BRWD1) S P 1511 rs2183573 Benign
64193 Q9NSI6 (BRWD1) L P 1699 rs1041439 Benign
64194 Q9NSI6 (BRWD1) K R 2156 rs2234548 Benign
64195 Q9NSI8 (SAMSN1) G A 63 rs34607574 Benign
64196 Q9NSK0 (KLC4) R H 72 rs11558979 Benign
64197 Q9NSK7 (C19orf12) T M 11 rs397514477 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64198 Q9NSK7 (C19orf12) S F 39 rs1204865094 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64199 Q9NSK7 (C19orf12) A P 48 - Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64200 Q9NSK7 (C19orf12) G R 53 rs200133991 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64201 Q9NSK7 (C19orf12) G S 58 rs1358503478 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64202 Q9NSK7 (C19orf12) P L 60 rs1424999393 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64203 Q9NSK7 (C19orf12) A P 63 rs376103979 Disease: Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]
64204 Q9NSK7 (C19orf12) G E 65 rs752450983 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64205 Q9NSK7 (C19orf12) G V 65 rs752450983 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64206 Q9NSK7 (C19orf12) G R 69 rs515726205 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64207 Q9NSK7 (C19orf12) P L 83 rs201987973 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64208 Q9NSK7 (C19orf12) Q P 96 - Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64209 Q9NSK7 (C19orf12) R S 98 rs1384930997 Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64210 Q9NSK7 (C19orf12) L Q 121 - Disease: Neurodegener ation with brain iron accumulation 4 (NBIA4) [MIM:614298]
64211 Q9NSK7 (C19orf12) K T 142 rs79915936 Benign
64212 Q9NSK7 (C19orf12) Q R 149 rs73023451 Benign
64213 Q9NST1 (PNPLA3) C G 99 rs2076213 Benign
64214 Q9NST1 (PNPLA3) G C 115 rs2076212 Benign
64215 Q9NST1 (PNPLA3) I M 148 rs738409 Benign
64216 Q9NST1 (PNPLA3) T P 216 rs35726887 Benign
64217 Q9NST1 (PNPLA3) K E 434 rs2294918 Benign
64218 Q9NST1 (PNPLA3) S I 453 rs6006460 Benign
64219 Q9NSU2 (TREX1) D N 18 rs121908117 Disease: Chilblain lupus 1 (CHBL1) [MIM:610448]
64220 Q9NSU2 (TREX1) R H 114 rs72556554 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64221 Q9NSU2 (TREX1) V A 122 rs79993407 Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750]
64222 Q9NSU2 (TREX1) A V 158 rs762011967 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64223 Q9NSU2 (TREX1) E K 198 rs1416519719 Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750]
64224 Q9NSU2 (TREX1) D H 200 - Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64225 Q9NSU2 (TREX1) D N 200 rs78846775 Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750]
64226 Q9NSU2 (TREX1) V D 201 rs78408272 Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750]
64227 Q9NSU2 (TREX1) G S 227 rs113107733 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64228 Q9NSU2 (TREX1) R S 240 rs72556555 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64229 Q9NSU2 (TREX1) A P 247 rs112741962 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64230 Q9NSU2 (TREX1) E G 266 rs55999987 Benign
64231 Q9NSU2 (TREX1) P L 290 rs148833270 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64232 Q9NSU2 (TREX1) T P 303 rs76224909 Disease: Aicardi- Goutieres syndrome 1 (AGS1) [MIM:225750]
64233 Q9NSU2 (TREX1) Y C 305 rs370504038 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64234 Q9NSU2 (TREX1) G A 306 rs780022923 Disease: Systemic lupus erythematosu s (SLE) [MIM:152700]
64235 Q9NSV4 (DIAPH3) N S 363 rs36084898 Benign
64236 Q9NSV4 (DIAPH3) F L 773 rs35579086 Benign
64237 Q9NSV4 (DIAPH3) E G 1041 rs7491389 Benign
64238 Q9NSY1 (BMP2K) D V 212 rs56143363 Benign
64239 Q9NSY1 (BMP2K) R H 288 rs55782848 Benign
64240 Q9NSY1 (BMP2K) G S 405 rs2288255 Benign
64241 Q9NSY1 (BMP2K) Q H 486 rs2114202 Benign
64242 Q9NSY1 (BMP2K) T S 1002 rs12507099 Benign
64243 Q9NSY2 (STARD5) G S 74 rs4384572 Benign
64244 Q9NT22 (EMILIN3) S N 532 rs2235592 Benign
64245 Q9NT68 (TENM2) N S 728 rs6862925 Benign
64246 Q9NT68 (TENM2) V F 1719 rs11957063 Benign
64247 Q9NTG1 (PKDREJ) V A 26 rs7293071 Benign
64248 Q9NTG1 (PKDREJ) R Q 528 rs6008394 Benign
64249 Q9NTG1 (PKDREJ) L P 914 rs6519993 Benign
64250 Q9NTG1 (PKDREJ) T P 992 rs7291444 Benign
64251 Q9NTG1 (PKDREJ) V A 993 rs34798212 Benign
64252 Q9NTG1 (PKDREJ) N S 1091 rs6008384 Benign
64253 Q9NTG1 (PKDREJ) I M 1147 rs36125344 Benign
64254 Q9NTG1 (PKDREJ) N D 1411 rs35276226 Benign
64255 Q9NTG1 (PKDREJ) I M 1528 rs4823496 Benign
64256 Q9NTG1 (PKDREJ) V I 1729 rs9626829 Benign
64257 Q9NTG7 (SIRT3) R W 80 rs28365927 Benign
64258 Q9NTG7 (SIRT3) V I 208 rs11246020 Benign
64259 Q9NTG7 (SIRT3) G S 369 rs3020901 Benign
64260 Q9NTI2 (ATP8A2) I M 376 rs546968533 Disease: Cerebellar ataxia, mental retardation, and dysequilibri um syndrome 4 (CMARQ4) [MIM:615268]
64261 Q9NTI2 (ATP8A2) A T 1069 rs2296242 Benign
64262 Q9NTJ3 (SMC4) S R 181 rs35214835 Benign
64263 Q9NTJ3 (SMC4) N S 356 rs33999879 Benign
64264 Q9NTJ3 (SMC4) E D 415 rs2164675 Benign
64265 Q9NTJ4 (MAN2C1) R C 323 rs200595616 Benign
64266 Q9NTJ4 (MAN2C1) R H 818 rs58557444 Benign
64267 Q9NTJ4 (MAN2C1) V M 950 rs3803467 Benign
64268 Q9NTJ4 (MAN2C1) V I 960 rs3803466 Benign
64269 Q9NTJ4 (MAN2C1) R K 975 rs5745934 Benign
64270 Q9NTJ5 (SACM1L) Y F 434 rs1468542 Benign
64271 Q9NTK1 (DEPP1) I M 44 rs11555140 Benign
64272 Q9NTN3 (SLC35D1) A T 82 rs10157422 Benign
64273 Q9NTQ9 (GJB4) G D 12 rs80358211 Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
64274 Q9NTQ9 (GJB4) R H 22 rs80358212 Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
64275 Q9NTQ9 (GJB4) T P 85 rs80358210 Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
64276 Q9NTQ9 (GJB4) R C 103 rs9426009 Benign
64277 Q9NTQ9 (GJB4) R Q 124 rs140996335 Benign
64278 Q9NTQ9 (GJB4) F L 137 rs80358206 Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
64279 Q9NTQ9 (GJB4) R C 160 rs148710003 Benign
64280 Q9NTQ9 (GJB4) C W 169 rs79193415 Benign
64281 Q9NTQ9 (GJB4) F Y 189 rs80358213 Disease: Erythrokerat odermia variabilis et progressiva 2 (EKVP2) [MIM:617524]
64282 Q9NTQ9 (GJB4) E A 204 rs3738346 Benign
64283 Q9NTU4 (CATSPERZ) P L 68 rs2286614 Benign
64284 Q9NTW7 (ZFP64) Q P 68 rs7353222 Benign
64285 Q9NTW7 (ZFP64) P L 139 rs6021773 Benign
64286 Q9NTX7 (RNF146) C R 25 rs10081141 Benign
64287 Q9NTX9 (FAM217B) Y C 380 rs6027210 Benign
64288 Q9NTZ6 (RBM12) N S 572 rs17092928 Benign
64289 Q9NTZ6 (RBM12) P L 921 rs6121012 Benign
64290 Q9NU02 (ANKEF1) P T 74 rs7260784 Benign
64291 Q9NU02 (ANKEF1) L Q 324 rs652633 Benign
64292 Q9NU02 (ANKEF1) G E 412 rs524625 Benign
64293 Q9NU02 (ANKEF1) R Q 742 rs6087119 Benign
64294 Q9NU22 (MDN1) F V 440 rs4707569 Benign
64295 Q9NU22 (MDN1) I V 660 rs12110451 Benign
64296 Q9NU22 (MDN1) A V 1044 rs34764513 Benign
64297 Q9NU22 (MDN1) S N 1559 rs4140446 Benign
64298 Q9NU22 (MDN1) H D 1929 rs16882099 Benign
64299 Q9NU22 (MDN1) H P 2972 rs34208137 Benign
64300 Q9NU22 (MDN1) E K 3004 rs12530146 Benign
64301 Q9NU22 (MDN1) H Y 3423 rs9294445 Benign
64302 Q9NU22 (MDN1) A G 3794 rs34766278 Benign
64303 Q9NU22 (MDN1) R L 3986 rs17293121 Benign
64304 Q9NU22 (MDN1) A S 4044 rs9353689 Benign
64305 Q9NU22 (MDN1) A T 4167 rs35509794 Benign
64306 Q9NU22 (MDN1) I T 4720 rs16882046 Benign
64307 Q9NU22 (MDN1) D E 4783 rs36040566 Benign
64308 Q9NU22 (MDN1) N K 5251 rs4707557 Benign
64309 Q9NU23 (LYRM2) R W 34 rs11553069 Benign
64310 Q9NU23 (LYRM2) K E 46 rs34012596 Benign
64311 Q9NU23 (LYRM2) T P 60 rs1055889 Benign
64312 Q9NU39 (FOXD4L1) V I 29 rs9308683 Benign
64313 Q9NU63 (ZFP57) N S 114 rs9461544 Benign
64314 Q9NU63 (ZFP57) R H 166 rs199589695 Disease: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]
64315 Q9NU63 (ZFP57) H N 193 rs78378398 Disease: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]
64316 Q9NU63 (ZFP57) D V 284 rs2535241 Benign
64317 Q9NU63 (ZFP57) H D 374 rs79020217 Disease: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]
64318 Q9NUA8 (ZBTB40) A T 225 rs6659222 Benign
64319 Q9NUA8 (ZBTB40) M I 267 rs36115661 Benign
64320 Q9NUA8 (ZBTB40) Y C 595 rs209729 Benign
64321 Q9NUA8 (ZBTB40) V M 997 rs209720 Benign
64322 Q9NUB1 (ACSS1) V M 488 rs6050249 Benign
64323 Q9NUD7 (C20orf96) I F 305 rs3827147 Benign
64324 Q9NUD9 (PIGV) Q K 256 rs267606952 Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
64325 Q9NUD9 (PIGV) A E 341 rs139073416 Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
64326 Q9NUD9 (PIGV) A V 341 rs139073416 Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
64327 Q9NUD9 (PIGV) H P 385 rs267606951 Disease: Hyperphospha tasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
64328 Q9NUJ1 (ABHD10) I V 251 rs17429033 Benign
64329 Q9NUJ3 (TCP11L1) H Q 109 rs16923785 Benign
64330 Q9NUJ3 (TCP11L1) K R 178 rs2273549 Benign
64331 Q9NUL3 (STAU2) V M 198 rs949493 Benign
64332 Q9NUL7 (DDX28) T A 4 rs237831 Benign
64333 Q9NUM3 (SLC39A9) E D 64 rs2296723 Benign
64334 Q9NUM3 (SLC39A9) M T 221 rs2232059 Benign
64335 Q9NUM3 (SLC39A9) R C 285 rs17855898 Benign
64336 Q9NUM4 (TMEM106B) T S 185 rs3173615 Benign
64337 Q9NUM4 (TMEM106B) D N 252 rs1554310600 Disease: Leukodystrop hy, hypomyelinat ing, 16 (HLD16) [MIM:617964]
64338 Q9NUN5 (LMBRD1) T A 144 rs12214456 Benign
64339 Q9NUN5 (LMBRD1) I V 395 rs17854411 Benign
64340 Q9NUN5 (LMBRD1) D E 469 rs12648 Benign
64341 Q9NUN7 (ACER3) E G 33 rs1554988032 Disease: Leukodystrop hy, progressive, early childhood- onset (PLDECO) [MIM:617762]
64342 Q9NUP7 (TRMT13) A V 48 rs687513 Benign
64343 Q9NUQ2 (AGPAT5) Y C 77 rs17077958 Benign
64344 Q9NUQ3 (TXLNG) I V 246 rs5969783 Benign
64345 Q9NUQ7 (UFSP2) N T 83 rs17850669 Benign
64346 Q9NUQ7 (UFSP2) Y H 290 rs796052130 Disease: Beukes familial hip dysplasia (BFHD) [MIM:142669]
64347 Q9NUQ7 (UFSP2) D A 426 rs1554022725 Disease: Spondyloepim etaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974]
64348 Q9NUQ8 (ABCF3) P L 503 rs11706273 Benign
64349 Q9NUQ8 (ABCF3) R H 510 rs9811715 Benign
64350 Q9NUQ9 (CYRIB) N K 169 - Benign
64351 Q9NUR3 (TMEM74B) L M 33 rs35393697 Benign
64352 Q9NUT2 (ABCB8) V I 152 rs4148844 Benign
64353 Q9NUU6 (OTULINL) F L 319 rs16903574 Benign
64354 Q9NUV7 (SPTLC3) L V 140 rs243887 Benign
64355 Q9NUV9 (GIMAP4) E D 128 rs2293172 Benign
64356 Q9NUW8 (TDP1) E D 95 rs35114462 Benign
64357 Q9NUW8 (TDP1) P L 101 rs35455108 Benign
64358 Q9NUW8 (TDP1) A T 134 rs28365054 Benign
64359 Q9NUW8 (TDP1) D G 187 rs35271143 Benign
64360 Q9NUW8 (TDP1) R Q 304 rs34452707 Benign
64361 Q9NUW8 (TDP1) H R 493 rs119467003 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) [MIM:607250]
64362 Q9NUW8 (TDP1) P L 566 rs767298655 Benign
64363 Q9NUW8 (TDP1) T A 569 rs35973343 Benign
64364 Q9NUX5 (POT1) Y C 89 rs587777472 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64365 Q9NUX5 (POT1) Q E 94 rs587777474 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64366 Q9NUX5 (POT1) G C 95 rs797045168 Disease: Glioma 9 (GLM9) [MIM:616568]
64367 Q9NUX5 (POT1) R H 137 rs587777475 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64368 Q9NUX5 (POT1) D N 224 rs202187871 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64369 Q9NUX5 (POT1) S N 270 rs587777477 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64370 Q9NUX5 (POT1) R L 273 rs587777476 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64371 Q9NUX5 (POT1) V M 529 rs34973253 Benign
64372 Q9NUX5 (POT1) A P 532 rs537377921 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64373 Q9NUX5 (POT1) Q H 623 rs587777478 Disease: Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]
64374 Q9NUZ1 (ACOXL) T M 255 rs1554005 Benign
64375 Q9NUZ1 (ACOXL) P L 535 rs17041850 Benign
64376 Q9NV06 (DCAF13) I V 42 rs3134253 Benign
64377 Q9NV06 (DCAF13) N S 70 rs13272825 Benign
64378 Q9NV12 (TMEM140) P S 6 rs292500 Benign
64379 Q9NV12 (TMEM140) R Q 7 rs3800592 Benign
64380 Q9NV12 (TMEM140) Q E 11 rs11558290 Benign
64381 Q9NV12 (TMEM140) F L 29 rs292501 Benign
64382 Q9NV35 (NUDT15) V I 18 rs186364861 Benign
64383 Q9NV35 (NUDT15) R C 139 rs116855232 Benign
64384 Q9NV35 (NUDT15) R H 139 rs147390019 Benign
64385 Q9NV39 (PRR34) P L 28 rs12159707 Benign
64386 Q9NV39 (PRR34) Q R 137 rs59929908 Benign
64387 Q9NV58 (RNF19A) Q H 835 rs9642785 Benign
64388 Q9NV64 (TMEM39A) A T 487 rs1132200 Benign
64389 Q9NV66 (TYW1) G V 462 rs2261015 Benign
64390 Q9NV66 (TYW1) H R 632 rs2949097 Benign
64391 Q9NV66 (TYW1) D N 671 rs28450001 Benign
64392 Q9NV72 (ZNF701) L P 70 rs162832 Benign
64393 Q9NV72 (ZNF701) T I 182 rs366793 Benign
64394 Q9NV72 (ZNF701) L V 185 rs12462687 Benign
64395 Q9NV72 (ZNF701) D E 306 rs427127 Benign
64396 Q9NV72 (ZNF701) T K 337 rs373554 Benign
64397 Q9NV72 (ZNF701) R H 495 rs3745102 Benign
64398 Q9NV72 (ZNF701) R C 521 rs444172 Benign
64399 Q9NV92 (NDFIP2) P S 124 rs55887763 Benign
64400 Q9NV92 (NDFIP2) A V 136 rs11549502 Benign
64401 Q9NVA1 (UQCC1) R Q 51 rs4911494 Benign
64402 Q9NVA1 (UQCC1) P L 85 rs6088810 Benign
64403 Q9NVC3 (SLC38A7) L P 46 rs7193572 Benign
64404 Q9NVC3 (SLC38A7) T I 78 rs7191331 Benign
64405 Q9NVC6 (MED17) E D 69 rs2848477 Benign
64406 Q9NVC6 (MED17) F L 357 rs35313315 Benign
64407 Q9NVC6 (MED17) L P 371 rs267607232 Disease: Microcephaly , postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668]
64408 Q9NVD3 (SETD4) I V 387 rs2835239 Benign
64409 Q9NVE4 (CCDC87) A T 156 rs1110707 Benign
64410 Q9NVE4 (CCDC87) F L 217 rs17853294 Benign
64411 Q9NVE5 (USP40) V A 666 rs838543 Benign
64412 Q9NVE5 (USP40) T M 1025 rs34026756 Benign
64413 Q9NVE5 (USP40) R C 1111 rs1048603 Benign
64414 Q9NVE7 (PANK4) A V 547 rs7535528 Benign
64415 Q9NVE7 (PANK4) Q R 684 rs2494620 Benign
64416 Q9NVF9 (ETNK2) R Q 227 rs3737657 Benign
64417 Q9NVG8 (TBC1D13) V A 190 rs1572912 Benign
64418 Q9NVH0 (EXD2) D N 231 rs35010854 Benign
64419 Q9NVH0 (EXD2) Q H 518 rs8007859 Benign
64420 Q9NVH1 (DNAJC11) V M 267 rs12137794 Benign
64421 Q9NVH1 (DNAJC11) T A 290 rs200454 Benign
64422 Q9NVH1 (DNAJC11) T S 290 rs200454 Benign
64423 Q9NVH2 (INTS7) H R 425 rs17851788 Benign
64424 Q9NVH6 (TMLHE) D H 244 rs869320708 Disease: Autism, X-linked 6 (AUTSX6) [MIM:300872]
64425 Q9NVI1 (FANCI) A V 86 rs17803620 Benign
64426 Q9NVI1 (FANCI) Q K 686 rs28378332 Benign
64427 Q9NVI1 (FANCI) C S 742 rs2283432 Benign
64428 Q9NVI1 (FANCI) H Y 858 - Disease: Fanconi anemia complementat ion group I (FANCI) [MIM:609053]
64429 Q9NVI1 (FANCI) R Q 1285 rs121918163 Disease: Fanconi anemia complementat ion group I (FANCI) [MIM:609053]
64430 Q9NVI7 (ATAD3A) G D 15 rs2274435 Benign
64431 Q9NVI7 (ATAD3A) S N 101 rs1619896 Benign
64432 Q9NVL1 (FAM86C1P) A S 7 rs12283300 Benign
64433 Q9NVL1 (FAM86C1P) R P 30 rs12283346 Benign
64434 Q9NVL1 (FAM86C1P) V A 70 rs3935309 Benign
64435 Q9NVL1 (FAM86C1P) P L 135 rs57679800 Benign
64436 Q9NVL8 (CCDC198) Y C 235 rs1152530 Benign
64437 Q9NVM4 (PRMT7) R T 32 rs149170494 Disease: Short stature, brachydactyl y, intellectual developmenta l disability, and seizures (SBIDDS) [MIM:617157]
64438 Q9NVM4 (PRMT7) R G 387 rs762515973 Disease: Short stature, brachydactyl y, intellectual developmenta l disability, and seizures (SBIDDS) [MIM:617157]
64439 Q9NVM4 (PRMT7) W R 494 rs751670999 Disease: Short stature, brachydactyl y, intellectual developmenta l disability, and seizures (SBIDDS) [MIM:617157]
64440 Q9NVM9 (INTS13) M T 66 rs2306852 Benign
64441 Q9NVN8 (GNL3L) R H 320 rs2298284 Benign
64442 Q9NVP1 (DDX18) T S 94 rs1052637 Benign
64443 Q9NVP1 (DDX18) K R 647 rs10179772 Benign
64444 Q9NVQ4 (FAIM) A T 117 rs641320 Benign
64445 Q9NVQ4 (FAIM) L S 127 rs13043 Benign
64446 Q9NVR5 (DNAAF2) E D 62 rs2985684 Benign
64447 Q9NVR5 (DNAAF2) D G 768 rs9989177 Benign
64448 Q9NVR7 (TBCCD1) K R 149 rs7619912 Benign
64449 Q9NVS9 (PNPO) E K 50 rs549477447 Benign
64450 Q9NVS9 (PNPO) R Q 116 rs17679445 Benign
64451 Q9NVS9 (PNPO) R H 225 rs550423482 Disease: Pyridoxine-5 '-phosphate oxidase deficiency (PNPOD) [MIM:610090]
64452 Q9NVS9 (PNPO) R Q 229 rs773450573 Disease: Pyridoxine-5 '-phosphate oxidase deficiency (PNPOD) [MIM:610090]
64453 Q9NVS9 (PNPO) R W 229 rs104894629 Disease: Pyridoxine-5 '-phosphate oxidase deficiency (PNPOD) [MIM:610090]
64454 Q9NVU0 (POLR3E) S A 46 rs2347 Benign
64455 Q9NVU7 (SDAD1) K Q 258 rs15481 Benign
64456 Q9NVU7 (SDAD1) A D 490 rs34627298 Benign
64457 Q9NVU7 (SDAD1) S C 575 rs2242471 Benign
64458 Q9NVU7 (SDAD1) V I 660 rs17001276 Benign
64459 Q9NVV0 (TMEM38B) C S 254 rs35232724 Benign
64460 Q9NVV2 (C19orf73) S G 106 rs2232003 Benign
64461 Q9NVV4 (MTPAP) R C 162 rs1047991 Benign
64462 Q9NVV4 (MTPAP) Y H 221 rs17855118 Benign
64463 Q9NVV4 (MTPAP) C R 419 rs17857517 Benign
64464 Q9NVV4 (MTPAP) N D 478 rs267606900 Disease: Spastic ataxia 4, autosomal recessive (SPAX4) [MIM:613672]
64465 Q9NVV4 (MTPAP) S N 546 rs17855116 Benign
64466 Q9NVV5 (AIG1) Q E 151 rs1053193 Benign
64467 Q9NVV9 (THAP1) S F 6 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64468 Q9NVV9 (THAP1) S P 6 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64469 Q9NVV9 (THAP1) A D 7 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64470 Q9NVV9 (THAP1) Y C 8 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64471 Q9NVV9 (THAP1) G C 9 rs267607112 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64472 Q9NVV9 (THAP1) N K 12 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64473 Q9NVV9 (THAP1) R H 13 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64474 Q9NVV9 (THAP1) K E 16 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64475 Q9NVV9 (THAP1) D G 17 rs766483829 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64476 Q9NVV9 (THAP1) S C 21 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64477 Q9NVV9 (THAP1) S T 21 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64478 Q9NVV9 (THAP1) H P 23 rs387907177 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64479 Q9NVV9 (THAP1) K E 24 rs387907176 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64480 Q9NVV9 (THAP1) P L 26 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64481 Q9NVV9 (THAP1) P R 26 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64482 Q9NVV9 (THAP1) R P 29 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64483 Q9NVV9 (THAP1) R Q 29 rs767952378 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64484 Q9NVV9 (THAP1) P R 30 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64485 Q9NVV9 (THAP1) L H 32 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64486 Q9NVV9 (THAP1) A T 39 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64487 Q9NVV9 (THAP1) C F 54 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64488 Q9NVV9 (THAP1) E G 56 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64489 Q9NVV9 (THAP1) H N 57 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64490 Q9NVV9 (THAP1) T I 59 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64491 Q9NVV9 (THAP1) L R 72 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64492 Q9NVV9 (THAP1) N I 75 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64493 Q9NVV9 (THAP1) I V 80 rs372080941 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64494 Q9NVV9 (THAP1) F L 81 rs118204013 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64495 Q9NVV9 (THAP1) C R 83 rs768017019 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64496 Q9NVV9 (THAP1) K R 89 rs267607111 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64497 Q9NVV9 (THAP1) F S 132 rs950435041 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64498 Q9NVV9 (THAP1) N K 136 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64499 Q9NVV9 (THAP1) N S 136 rs769988455 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64500 Q9NVV9 (THAP1) Y C 137 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64501 Q9NVV9 (THAP1) M V 143 rs374512193 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64502 Q9NVV9 (THAP1) I T 149 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64503 Q9NVV9 (THAP1) H P 150 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64504 Q9NVV9 (THAP1) A T 166 rs138918468 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64505 Q9NVV9 (THAP1) R Q 169 rs767519301 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64506 Q9NVV9 (THAP1) C R 170 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64507 Q9NVV9 (THAP1) E G 174 rs759392096 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64508 Q9NVV9 (THAP1) L P 177 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64509 Q9NVV9 (THAP1) L S 180 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64510 Q9NVV9 (THAP1) Q K 187 - Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64511 Q9NVV9 (THAP1) D N 192 rs377725442 Disease: Dystonia 6, torsion (DYT6) [MIM:602629]
64512 Q9NVW2 (RLIM) Y C 356 rs786205133 Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978]
64513 Q9NVW2 (RLIM) R C 387 - Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978]
64514 Q9NVW2 (RLIM) P R 587 - Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978]
64515 Q9NVW2 (RLIM) H P 590 - Benign
64516 Q9NVW2 (RLIM) R C 599 - Disease: Tonne- Kalscheuer syndrome (TOKAS) [MIM:300978]
64517 Q9NVX0 (HAUS2) T P 76 rs34678957 Benign
64518 Q9NVX2 (NLE1) P A 6 rs1471615 Benign
64519 Q9NVX2 (NLE1) R K 169 rs7215209 Benign
64520 Q9NVX2 (NLE1) Y H 406 rs2306513 Benign
64521 Q9NVX2 (NLE1) S N 434 rs2306512 Benign
64522 Q9NVX7 (KBTBD4) D N 330 rs11039302 Benign
64523 Q9NVZ3 (NECAP2) D A 149 rs35056694 Benign
64524 Q9NW07 (ZNF358) N S 32 rs11555037 Benign
64525 Q9NW08 (POLR3B) L F 104 - Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64526 Q9NW08 (POLR3B) S G 268 - Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64527 Q9NW08 (POLR3B) R C 442 rs1442212683 Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64528 Q9NW08 (POLR3B) T K 503 rs267608683 Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64529 Q9NW08 (POLR3B) V E 523 rs138249161 Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64530 Q9NW08 (POLR3B) C R 527 - Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64531 Q9NW08 (POLR3B) T A 740 rs17038460 Benign
64532 Q9NW08 (POLR3B) R H 768 rs267608687 Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64533 Q9NW08 (POLR3B) D E 926 rs267608689 Disease: Leukodystrop hy, hypomyelinat ing, 8, with or without oligodontia and/or hypogonadotr opic hypogonadism (HLD8) [MIM:614381]
64534 Q9NW13 (RBM28) E Q 253 rs11554671 Benign
64535 Q9NW13 (RBM28) L P 351 rs118204055 Disease: Alopecia, neurologic defects, and endocrinopat hy syndrome (ANES) [MIM:612079]
64536 Q9NW15 (ANO10) R Q 462 rs3772165 Benign
64537 Q9NW15 (ANO10) L R 510 rs387907089 Disease: Spinocerebel lar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]
64538 Q9NW15 (ANO10) T M 561 rs17409162 Benign
64539 Q9NW15 (ANO10) V A 583 rs17853862 Benign
64540 Q9NW38 (FANCL) S F 144 rs36059257 Benign
64541 Q9NW81 (DMAC2) R C 9 rs2231938 Benign
64542 Q9NW81 (DMAC2) H R 23 rs2231939 Benign
64543 Q9NW81 (DMAC2) N S 34 rs2231940 Benign
64544 Q9NW81 (DMAC2) C S 159 rs1043413 Benign
64545 Q9NW81 (DMAC2) E K 230 rs2231943 Benign
64546 Q9NW97 (TMEM51) V A 34 rs17405421 Benign
64547 Q9NW97 (TMEM51) R Q 92 rs3766158 Benign
64548 Q9NWF4 (SLC52A1) Q R 70 rs346822 Benign
64549 Q9NWF4 (SLC52A1) A V 271 rs346821 Benign
64550 Q9NWF4 (SLC52A1) V M 296 rs2304445 Benign
64551 Q9NWF4 (SLC52A1) L V 386 rs187609896 Benign
64552 Q9NWF9 (RNF216) R C 660 rs1335215379 Disease: Gordon Holmes syndrome (GDHS) [MIM:212840]
64553 Q9NWF9 (RNF216) R C 694 rs387907368 Disease: Gordon Holmes syndrome (GDHS) [MIM:212840]
64554 Q9NWH7 (SPATA6) R W 333 rs1338314 Benign
64555 Q9NWH7 (SPATA6) C F 478 rs1056042 Benign
64556 Q9NWH7 (SPATA6) C S 478 rs1056042 Benign
64557 Q9NWH7 (SPATA6) C Y 478 rs1056042 Benign
64558 Q9NWH9 (SLTM) V L 235 rs7175939 Benign
64559 Q9NWK9 (ZNHIT6) G R 9 rs17399721 Benign
64560 Q9NWL6 (ASNSD1) G R 190 rs1437880 Benign
64561 Q9NWL6 (ASNSD1) M T 434 rs35137531 Benign
64562 Q9NWM0 (SMOX) R P 301 rs6084654 Benign
64563 Q9NWM0 (SMOX) H Y 522 - Benign
64564 Q9NWM3 (CUEDC1) R H 169 rs17762338 Benign
64565 Q9NWM3 (CUEDC1) P S 205 rs2304942 Benign
64566 Q9NWM3 (CUEDC1) R Q 316 rs34800498 Benign
64567 Q9NWN3 (FBXO34) V A 432 rs35070799 Benign
64568 Q9NWN3 (FBXO34) I N 470 rs1045002 Benign
64569 Q9NWN3 (FBXO34) L P 533 rs3742569 Benign
64570 Q9NWN3 (FBXO34) G V 704 rs10138395 Benign
64571 Q9NWQ4 (GPATCH2L) V E 132 rs17104086 Benign
64572 Q9NWQ9 (C14orf119) L V 16 rs35065609 Benign
64573 Q9NWR8 (MCUB) I N 63 rs4698744 Benign
64574 Q9NWR8 (MCUB) Y F 253 rs13846 Benign
64575 Q9NWR8 (MCUB) I V 255 rs1053680 Benign
64576 Q9NWS0 (PIH1D1) M L 9 rs2293012 Benign
64577 Q9NWS0 (PIH1D1) G E 10 rs2293013 Benign
64578 Q9NWS0 (PIH1D1) V I 224 rs13394 Benign
64579 Q9NWS0 (PIH1D1) D E 230 rs34198213 Benign
64580 Q9NWS0 (PIH1D1) P L 287 rs7462 Benign
64581 Q9NWS1 (PARPBP) V M 400 rs12227879 Benign
64582 Q9NWS6 (FAM118A) V L 129 rs11556482 Benign
64583 Q9NWS6 (FAM118A) R H 239 rs6007594 Benign
64584 Q9NWS8 (RMND1) S I 42 rs11550103 Benign
64585 Q9NWS8 (RMND1) R H 47 rs6934360 Benign
64586 Q9NWS8 (RMND1) T M 132 rs3734800 Benign
64587 Q9NWS8 (RMND1) R Q 417 rs397515421 Disease: Combined oxidative phosphorylat ion deficiency 11 (COXPD11) [MIM:614922]
64588 Q9NWS9 (ZNF446) N H 192 rs893185 Benign
64589 Q9NWS9 (ZNF446) P S 300 rs36095067 Benign
64590 Q9NWS9 (ZNF446) R H 387 rs882610 Benign
64591 Q9NWT6 (HIF1AN) P A 41 rs2295778 Benign
64592 Q9NWT8 (AURKAIP1) Q H 107 rs3736374 Benign
64593 Q9NWU5 (MRPL22) G S 154 rs3749671 Benign
64594 Q9NWW0 (HCFC1R1) P Q 92 rs10508 Benign
64595 Q9NWW5 (CLN6) R T 6 rs154774636 Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64596 Q9NWW5 (CLN6) A T 12 rs112239768 Benign
64597 Q9NWW5 (CLN6) A T 34 rs146198681 Benign
64598 Q9NWW5 (CLN6) L F 47 rs154774635 Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64599 Q9NWW5 (CLN6) R H 62 rs751486476 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64600 Q9NWW5 (CLN6) L P 67 rs154774633 Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64601 Q9NWW5 (CLN6) E Q 72 rs104894483 Benign
64602 Q9NWW5 (CLN6) N K 77 rs154774641 Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64603 Q9NWW5 (CLN6) N K 90 - Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64604 Q9NWW5 (CLN6) R Q 103 rs154774634 Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64605 Q9NWW5 (CLN6) S F 104 - Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64606 Q9NWW5 (CLN6) G D 123 rs104894484 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64607 Q9NWW5 (CLN6) R C 149 rs747229909 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64608 Q9NWW5 (CLN6) R H 149 rs154774638 Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64609 Q9NWW5 (CLN6) P L 159 rs919850756 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64610 Q9NWW5 (CLN6) L P 169 rs1344658850 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64611 Q9NWW5 (CLN6) F S 186 - Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64612 Q9NWW5 (CLN6) Y C 221 rs764571295 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64613 Q9NWW5 (CLN6) Y S 221 rs764571295 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64614 Q9NWW5 (CLN6) F L 234 rs959199004 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64615 Q9NWW5 (CLN6) F T 238 - Disease: Ceroid lipofuscinos is, neuronal, 4A (CLN4A) [MIM:204300]
64616 Q9NWW5 (CLN6) M T 241 rs1555438255 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64617 Q9NWW5 (CLN6) R H 252 rs374681194 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64618 Q9NWW5 (CLN6) G S 259 rs150363441 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64619 Q9NWW5 (CLN6) P T 297 rs1194940137 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64620 Q9NWW5 (CLN6) P L 299 rs758921701 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64621 Q9NWW5 (CLN6) W R 300 rs750937323 Disease: Ceroid lipofuscinos is, neuronal, 6 (CLN6) [MIM:601780]
64622 Q9NWW5 (CLN6) S T 308 rs143578698 Benign
64623 Q9NWW7 (C2orf42) Q P 314 rs3213941 Benign
64624 Q9NWX6 (THG1L) L P 232 rs2270812 Benign
64625 Q9NWY4 (HPF1) R K 174 rs1047642 Benign
64626 Q9NWY4 (HPF1) E D 331 rs1047706 Benign
64627 Q9NWZ3 (IRAK4) I V 5 rs56312115 Benign
64628 Q9NWZ3 (IRAK4) R C 12 rs377584435 Disease: IRAK4 deficiency (IRAK4D) [MIM:607676]
64629 Q9NWZ3 (IRAK4) R W 20 rs143625818 Benign
64630 Q9NWZ3 (IRAK4) I T 26 rs138116867 Benign
64631 Q9NWZ3 (IRAK4) I V 39 rs113588409 Benign
64632 Q9NWZ3 (IRAK4) S R 98 rs4251469 Benign
64633 Q9NWZ3 (IRAK4) G D 298 rs568782766 Disease: IRAK4 deficiency (IRAK4D) [MIM:607676]
64634 Q9NWZ3 (IRAK4) M V 355 rs142376871 Benign
64635 Q9NWZ3 (IRAK4) H R 390 rs4251583 Benign
64636 Q9NWZ3 (IRAK4) R H 391 rs55944915 Benign
64637 Q9NWZ3 (IRAK4) A T 428 rs4251545 Benign
64638 Q9NWZ8 (GEMIN8) E V 195 rs3747421 Benign
64639 Q9NX00 (TMEM160) G S 120 rs11083857 Benign
64640 Q9NX02 (NLRP2) T M 221 rs17699678 Benign
64641 Q9NX02 (NLRP2) E Q 302 rs3745904 Benign
64642 Q9NX02 (NLRP2) R K 364 rs4306647 Benign
64643 Q9NX02 (NLRP2) T A 516 rs61735082 Benign
64644 Q9NX02 (NLRP2) E G 522 rs61735083 Benign
64645 Q9NX02 (NLRP2) T A 529 rs34804158 Benign
64646 Q9NX02 (NLRP2) G R 884 rs59779270 Benign
64647 Q9NX02 (NLRP2) A E 1052 rs1043673 Benign
64648 Q9NX05 (FAM120C) I T 82 rs2495783 Benign
64649 Q9NX05 (FAM120C) M I 934 rs41304786 Benign
64650 Q9NX08 (COMMD8) A P 17 rs35444219 Benign
64651 Q9NX14 (NDUFB11) E K 121 rs1057519073 Disease: Mitochondria l complex I deficiency, nuclear type 30 (MC1DN30) [MIM:301021]
64652 Q9NX18 (SDHAF2) G R 78 rs113560320 Disease: Paragangliom as 2 (PGL2) [MIM:601650]
64653 Q9NX20 (MRPL16) G S 29 rs7122468 Benign
64654 Q9NX20 (MRPL16) R Q 199 rs12787462 Benign
64655 Q9NX20 (MRPL16) R C 207 rs491671 Benign
64656 Q9NX24 (NHP2) A T 118 rs139588879 Benign
64657 Q9NX24 (NHP2) V M 126 rs121908090 Disease: Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]
64658 Q9NX24 (NHP2) Y H 139 rs121908089 Disease: Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]
64659 Q9NX31 (OSER1) V G 74 rs9346 Benign
64660 Q9NX45 (SOHLH2) S L 14 rs12873478 Benign
64661 Q9NX45 (SOHLH2) A T 339 rs2296968 Benign
64662 Q9NX46 (ADPRS) T P 79 - Disease: Neurodegener ation, childhood- onset, stress- induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
64663 Q9NX46 (ADPRS) E K 209 rs2236387 Benign
64664 Q9NX46 (ADPRS) V G 335 rs201735454 Disease: Neurodegener ation, childhood- onset, stress- induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
64665 Q9NX52 (RHBDL2) L M 273 rs2147914 Benign
64666 Q9NX55 (HYPK) S P 105 rs12702 Benign
64667 Q9NX57 (RAB20) N S 134 rs426453 Benign
64668 Q9NX58 (LYAR) D Y 151 rs2272739 Benign
64669 Q9NX58 (LYAR) H R 265 rs7376390 Benign
64670 Q9NX62 (BPNT2) D N 177 rs387907101 Disease: Chondrodyspl asia with joint dislocations , GPAPP type (CDP-GPAPP) [MIM:614078]
64671 Q9NX62 (BPNT2) T P 183 rs387907102 Disease: Chondrodyspl asia with joint dislocations , GPAPP type (CDP-GPAPP) [MIM:614078]
64672 Q9NX65 (ZSCAN32) A V 266 rs17136369 Benign
64673 Q9NX65 (ZSCAN32) Y H 332 rs27230 Benign
64674 Q9NX76 (CMTM6) T A 91 rs35574803 Benign
64675 Q9NX78 (TMEM260) A S 245 rs17776256 Benign
64676 Q9NX78 (TMEM260) S N 565 rs1041316 Benign
64677 Q9NX94 (WBP1L) S P 302 rs284860 Benign
64678 Q9NX94 (WBP1L) A S 320 rs284859 Benign
64679 Q9NXA8 (SIRT5) F L 285 rs9464003 Benign
64680 Q9NXA8 (SIRT5) E G 305 rs34162626 Benign
64681 Q9NXB0 (MKS1) D Y 19 rs863225205 Disease: Meckel syndrome 1 (MKS1) [MIM:249000]
64682 Q9NXB0 (MKS1) L F 39 rs11653070 Benign
64683 Q9NXB0 (MKS1) R Q 123 rs202112856 Benign
64684 Q9NXB0 (MKS1) D G 286 rs151023718 Benign
64685 Q9NXB0 (MKS1) I T 450 rs200865108 Benign
64686 Q9NXB0 (MKS1) C W 492 rs137853105 Disease: Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]
64687 Q9NXB9 (ELOVL2) T A 216 rs17855038 Benign
64688 Q9NXB9 (ELOVL2) V M 225 rs6919726 Benign
64689 Q9NXD2 (MTMR10) R H 648 rs6493352 Benign
64690 Q9NXE4 (SMPD4) L P 231 - Disease: Neurodevelop mental disorder with microcephaly , arthrogrypos is, and structural brain anomalies (NEDMABA) [MIM:618622]
64691 Q9NXF7 (DCAF16) N S 45 rs34085539 Benign
64692 Q9NXF7 (DCAF16) T I 129 rs7690457 Benign
64693 Q9NXF8 (ZDHHC7) V I 201 rs13334011 Benign
64694 Q9NXG0 (CNTLN) T A 284 rs3808795 Benign
64695 Q9NXG0 (CNTLN) E D 291 rs3808794 Benign
64696 Q9NXG0 (CNTLN) R C 562 rs3808782 Benign
64697 Q9NXG0 (CNTLN) T I 695 rs7035276 Benign
64698 Q9NXG0 (CNTLN) T A 1376 rs2499057 Benign
64699 Q9NXG2 (THUMPD1) E D 311 rs11074471 Benign
64700 Q9NXG6 (P4HTM) H P 161 - Disease: Hypotonia, hyperventila tion, impaired intellectual development, dysautonomia , epilepsy, and eye abnormalitie s (HIDEA) [MIM:618493]
64701 Q9NXI6 (RNF186) A T 23 rs1541185 Benign
64702 Q9NXI6 (RNF186) P T 208 rs35541730 Benign
64703 Q9NXJ0 (MS4A12) A D 10 rs12788393 Benign
64704 Q9NXK6 (PAQR5) I T 24 rs17853893 Benign
64705 Q9NXL2 (ARHGEF38) M V 88 rs2276970 Benign
64706 Q9NXL6 (SIDT1) G S 3 rs9879313 Benign
64707 Q9NXL6 (SIDT1) V M 78 rs2271496 Benign
64708 Q9NXL6 (SIDT1) T I 363 rs33990195 Benign
64709 Q9NXN4 (GDAP2) P R 95 rs12752437 Benign
64710 Q9NXN4 (GDAP2) G S 106 rs12753610 Benign
64711 Q9NXN4 (GDAP2) Q P 312 rs12145577 Benign
64712 Q9NXN4 (GDAP2) T A 489 rs34924570 Benign
64713 Q9NXP7 (GIN1) G C 22 rs17851289 Benign
64714 Q9NXP7 (GIN1) T M 239 rs34813 Benign
64715 Q9NXR5 (ANKRD10) P L 320 rs3742185 Benign
64716 Q9NXR8 (ING3) D G 20 - Disease: Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
64717 Q9NXS2 (QPCTL) P L 214 rs28708996 Benign
64718 Q9NXS3 (KLHL28) I V 349 rs35728857 Benign
64719 Q9NXW2 (DNAJB12) E K 304 rs3750784 Benign
64720 Q9NXW9 (ALKBH4) A V 247 rs41275227 Benign
64721 Q9NXX6 (NSMCE4A) S T 72 rs1065683 Benign
64722 Q9NXZ1 (SAGE1) N K 741 rs35470903 Benign
64723 Q9NXZ1 (SAGE1) L S 805 rs4829799 Benign
64724 Q9NXZ2 (DDX43) K E 625 rs311686 Benign
64725 Q9NXZ2 (DDX43) Q R 629 rs311685 Benign
64726 Q9NY15 (STAB1) L M 672 rs12636502 Benign
64727 Q9NY15 (STAB1) M V 912 rs9835659 Benign
64728 Q9NY15 (STAB1) G R 1127 rs2286786 Benign
64729 Q9NY15 (STAB1) A P 1833 rs7630214 Benign
64730 Q9NY15 (STAB1) I V 2282 rs4434138 Benign
64731 Q9NY15 (STAB1) M T 2506 rs13303 Benign
64732 Q9NY25 (CLEC5A) R H 141 rs35942193 Benign
64733 Q9NY27 (PPP4R2) P L 174 rs2306983 Benign
64734 Q9NY27 (PPP4R2) S C 282 rs34742137 Benign
64735 Q9NY28 (GALNT8) Y D 53 rs10849133 Benign
64736 Q9NY28 (GALNT8) Y N 53 rs10849133 Benign
64737 Q9NY28 (GALNT8) E K 234 rs16931676 Benign
64738 Q9NY28 (GALNT8) E G 267 rs34776842 Benign
64739 Q9NY28 (GALNT8) F S 312 rs34829532 Benign
64740 Q9NY28 (GALNT8) A V 337 rs199920896 Benign
64741 Q9NY28 (GALNT8) D G 438 rs559663039 Benign
64742 Q9NY28 (GALNT8) V F 515 rs1468556 Benign
64743 Q9NY28 (GALNT8) V M 611 rs34114277 Benign
64744 Q9NY28 (GALNT8) D G 630 rs16931692 Benign
64745 Q9NY33 (DPP3) R H 76 rs11826683 Benign
64746 Q9NY33 (DPP3) Q H 145 rs11550299 Benign
64747 Q9NY33 (DPP3) R H 678 rs2305535 Benign
64748 Q9NY33 (DPP3) E K 690 rs12421620 Benign
64749 Q9NY46 (SCN3A) L P 247 - Disease: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
64750 Q9NY46 (SCN3A) R Q 357 rs774195502 Disease: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
64751 Q9NY46 (SCN3A) S T 606 - Benign
64752 Q9NY46 (SCN3A) I T 875 rs1057518801 Disease: Epileptic encephalopat hy, early infantile, 62 (EIEE62) [MIM:617938]
64753 Q9NY46 (SCN3A) V I 1084 rs140990288 Benign
64754 Q9NY46 (SCN3A) V A 1107 rs12474273 Benign
64755 Q9NY46 (SCN3A) E K 1160 rs377632429 Disease: Epilepsy, familial focal, with variable foci 4 (FFEVF4) [MIM:617935]
64756 Q9NY46 (SCN3A) P L 1333 rs1057520753 Disease: Epileptic encephalopat hy, early infantile, 62 (EIEE62) [MIM:617938]
64757 Q9NY46 (SCN3A) V A 1769 rs1553517274 Disease: Epileptic encephalopat hy, early infantile, 62 (EIEE62) [MIM:617938]
64758 Q9NY46 (SCN3A) D N 1803 rs3731762 Benign
64759 Q9NY46 (SCN3A) L S 1813 - Benign
64760 Q9NY47 (CACNA2D2) A V 138 rs35497591 Benign
64761 Q9NY47 (CACNA2D2) E K 334 rs743855 Benign
64762 Q9NY47 (CACNA2D2) L P 1047 - Disease: Cerebellar atrophy with seizures and variable developmenta l delay (CASVDD) [MIM:618501]
64763 Q9NY56 (OBP2A) N K 61 rs3180357 Benign
64764 Q9NY56 (OBP2A) G A 130 rs55695858 Benign
64765 Q9NY56 (OBP2A) P S 133 rs3178137 Benign
64766 Q9NY56 (OBP2A) M T 159 rs2853652 Benign
64767 Q9NY57 (STK32B) R G 198 rs3733182 Benign
64768 Q9NY57 (STK32B) R H 244 rs35207488 Benign
64769 Q9NY57 (STK32B) D V 310 rs56259884 Benign
64770 Q9NY57 (STK32B) K T 342 rs55961955 Benign
64771 Q9NY64 (SLC2A8) I T 253 rs34064803 Benign
64772 Q9NY65 (TUBA8) A V 128 rs2234331 Benign
64773 Q9NY65 (TUBA8) Q R 301 rs2234333 Benign
64774 Q9NY72 (SCN3B) R K 6 rs587777558 Disease: Atrial fibrillation , familial, 16 (ATFB16) [MIM:613120]
64775 Q9NY72 (SCN3B) S N 97 rs35174956 Benign
64776 Q9NY72 (SCN3B) A V 130 rs587777556 Disease: Atrial fibrillation , familial, 16 (ATFB16) [MIM:613120]
64777 Q9NY72 (SCN3B) M T 161 rs587777557 Disease: Atrial fibrillation , familial, 16 (ATFB16) [MIM:613120]
64778 Q9NY74 (ETAA1) M T 221 rs13036061 Benign
64779 Q9NY74 (ETAA1) S N 389 rs3770657 Benign
64780 Q9NY74 (ETAA1) P L 715 rs3770656 Benign
64781 Q9NY74 (ETAA1) P S 771 rs3770655 Benign
64782 Q9NY84 (VNN3) H R 33 rs764264 Benign
64783 Q9NY84 (VNN3) T A 89 rs36012859 Benign
64784 Q9NY84 (VNN3) E K 91 rs12174042 Benign
64785 Q9NY84 (VNN3) V A 222 rs6569834 Benign
64786 Q9NY87 (SPANXC) V F 59 - Benign
64787 Q9NY91 (SLC5A4) T M 4 rs16990065 Benign
64788 Q9NY91 (SLC5A4) A T 46 rs2235171 Benign
64789 Q9NY99 (SNTG2) S Y 168 rs28505970 Benign
64790 Q9NY99 (SNTG2) S L 200 rs6751090 Benign
64791 Q9NY99 (SNTG2) I V 391 rs13023962 Benign
64792 Q9NYA3 (GOLGA6A) W R 200 rs2018461 Benign
64793 Q9NYA4 (MTMR4) L V 170 rs3744108 Benign
64794 Q9NYA4 (MTMR4) S G 280 rs2302190 Benign
64795 Q9NYA4 (MTMR4) V G 297 rs2302189 Benign
64796 Q9NYB0 (TERF2IP) K E 324 rs4888444 Benign
64797 Q9NYC9 (DNAH9) R H 151 rs17599639 Benign
64798 Q9NYC9 (DNAH9) Q R 445 rs9892256 Benign
64799 Q9NYC9 (DNAH9) R W 842 rs16945138 Benign
64800 Q9NYC9 (DNAH9) R W 1158 rs8070501 Benign
64801 Q9NYC9 (DNAH9) T A 1221 rs9916482 Benign
64802 Q9NYC9 (DNAH9) K E 1881 - Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
64803 Q9NYC9 (DNAH9) M V 2087 rs9892290 Benign
64804 Q9NYC9 (DNAH9) N S 2195 rs3744581 Benign
64805 Q9NYC9 (DNAH9) Q H 2438 rs2277658 Benign
64806 Q9NYC9 (DNAH9) K R 2961 rs11870983 Benign
64807 Q9NYC9 (DNAH9) R H 2965 rs375908701 Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
64808 Q9NYC9 (DNAH9) K N 2968 rs11871037 Benign
64809 Q9NYC9 (DNAH9) R L 3398 - Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
64810 Q9NYC9 (DNAH9) R Q 3726 rs16945431 Benign
64811 Q9NYC9 (DNAH9) R W 3726 rs3760436 Benign
64812 Q9NYC9 (DNAH9) D N 4036 rs17612861 Benign
64813 Q9NYC9 (DNAH9) D N 4123 rs1267599270 Disease: Ciliary dyskinesia, primary, 40 (CILD40) [MIM:618300]
64814 Q9NYC9 (DNAH9) M I 4374 rs1990236 Benign
64815 Q9NYC9 (DNAH9) R C 4443 rs9913494 Benign
64816 Q9NYC9 (DNAH9) W R 4462 rs8074656 Benign
64817 Q9NYF0 (DACT1) N K 356 - Disease: Neural tube defects (NTD) [MIM:182940]
64818 Q9NYF0 (DACT1) D N 446 rs34015825 Benign
64819 Q9NYF0 (DACT1) A V 464 rs17832998 Benign
64820 Q9NYF0 (DACT1) S A 628 rs17094821 Benign
64821 Q9NYF0 (DACT1) G S 697 rs698025 Benign
64822 Q9NYF0 (DACT1) D G 800 rs773720154 Benign
64823 Q9NYF3 (FAM53C) R C 21 rs35360938 Benign
64824 Q9NYF5 (FAM13B) M V 802 rs33956817 Benign
64825 Q9NYF8 (BCLAF1) G A 66 rs9942517 Benign
64826 Q9NYF8 (BCLAF1) S C 209 rs6940018 Benign
64827 Q9NYF8 (BCLAF1) Y D 459 rs1967446 Benign
64828 Q9NYF8 (BCLAF1) L H 461 rs1967445 Benign
64829 Q9NYF8 (BCLAF1) N S 629 rs7381749 Benign
64830 Q9NYF8 (BCLAF1) R C 875 rs34541670 Benign
64831 Q9NYG8 (KCNK4) A E 172 - Disease: Facial dysmorphism, hypertrichos is, epilepsy, intellectual and developmenta l delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381]
64832 Q9NYG8 (KCNK4) A P 244 - Disease: Facial dysmorphism, hypertrichos is, epilepsy, intellectual and developmenta l delay, and gingival overgrowth syndrome (FHEIG) [MIM:618381]
64833 Q9NYG8 (KCNK4) P L 328 rs953778 Benign
64834 Q9NYH9 (UTP6) K R 35 rs16967042 Benign
64835 Q9NYH9 (UTP6) Q R 69 rs3760454 Benign
64836 Q9NYH9 (UTP6) L V 134 rs34859443 Benign
64837 Q9NYI0 (PSD3) T M 186 rs7016219 Benign
64838 Q9NYI0 (PSD3) T P 186 rs7003060 Benign
64839 Q9NYI0 (PSD3) P L 293 rs13263453 Benign
64840 Q9NYJ7 (DLL3) A T 115 rs71647811 Benign
64841 Q9NYJ7 (DLL3) L Q 142 rs55741253 Benign
64842 Q9NYJ7 (DLL3) F C 172 rs8107127 Benign
64843 Q9NYJ7 (DLL3) L P 218 rs1110627 Benign
64844 Q9NYJ7 (DLL3) G D 385 rs104894674 Disease: Spondylocost al dysostosis 1, autosomal recessive (SCDO1) [MIM:277300]
64845 Q9NYJ8 (TAB2) P S 208 rs267607101 Disease: Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980]
64846 Q9NYJ8 (TAB2) Q K 230 rs267607100 Disease: Congenital heart defects, multiple types, 2 (CHTD2) [MIM:614980]
64847 Q9NYK1 (TLR7) Q L 11 rs179008 Benign
64848 Q9NYK1 (TLR7) A V 448 rs5743781 Benign
64849 Q9NYK5 (MRPL39) S P 31 rs3989369 Benign
64850 Q9NYK6 (EURL) N K 115 rs2824495 Benign
64851 Q9NYK6 (EURL) Q R 117 rs1047976 Benign
64852 Q9NYK6 (EURL) D E 136 rs1047978 Benign
64853 Q9NYK6 (EURL) Q H 195 rs8128004 Benign
64854 Q9NYK6 (EURL) Y H 217 rs2824494 Benign
64855 Q9NYL2 (MAP3K20) T M 267 rs6758025 Benign
64856 Q9NYL2 (MAP3K20) A V 281 rs34683477 Benign
64857 Q9NYL2 (MAP3K20) F C 368 rs863225437 Disease: Split-foot malformation with mesoaxial polydactyly (SFMMP) [MIM:616890]
64858 Q9NYL2 (MAP3K20) S L 531 rs3769148 Benign
64859 Q9NYL2 (MAP3K20) R W 580 rs7593622 Benign
64860 Q9NYL2 (MAP3K20) P T 740 rs56202258 Benign
64861 Q9NYL2 (MAP3K20) Y H 773 rs35608243 Benign
64862 Q9NYL2 (MAP3K20) K T 784 rs55830025 Benign
64863 Q9NYL5 (CYP39A1) R P 23 rs12192544 Benign
64864 Q9NYL5 (CYP39A1) R H 103 rs2277119 Benign
64865 Q9NYL5 (CYP39A1) Y H 288 rs17856332 Benign
64866 Q9NYL5 (CYP39A1) N K 324 rs7761731 Benign
64867 Q9NYL5 (CYP39A1) K Q 329 rs41273654 Benign
64868 Q9NYM4 (GPR83) P Q 374 rs3740868 Benign
64869 Q9NYP3 (DONSON) S R 28 rs768071555 Benign
64870 Q9NYP3 (DONSON) C R 278 - Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604]
64871 Q9NYP3 (DONSON) Y C 282 - Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604]
64872 Q9NYP3 (DONSON) F L 292 rs779803447 Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604]
64873 Q9NYP3 (DONSON) P S 433 - Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604]
64874 Q9NYP3 (DONSON) M T 446 rs1135401959 Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604]
64875 Q9NYP3 (DONSON) E K 504 rs374688527 Disease: Microcephaly , short stature, and limb abnormalitie s (MISSLA) [MIM:617604]
64876 Q9NYP7 (ELOVL5) L V 72 rs587777671 Disease: Spinocerebel lar ataxia 38 (SCA38) [MIM:615957]
64877 Q9NYP7 (ELOVL5) G V 230 rs587777670 Disease: Spinocerebel lar ataxia 38 (SCA38) [MIM:615957]
64878 Q9NYQ3 (HAO2) E K 15 rs34638261 Benign
64879 Q9NYQ3 (HAO2) L M 221 rs6661625 Benign
64880 Q9NYQ6 (CELSR1) I V 587 rs34141466 Benign
64881 Q9NYQ6 (CELSR1) S W 664 rs4823850 Benign
64882 Q9NYQ6 (CELSR1) A V 773 rs12170597 Disease: Neural tube defects (NTD) [MIM:182940]
64883 Q9NYQ6 (CELSR1) C R 1126 rs4823561 Benign
64884 Q9NYQ6 (CELSR1) V I 1242 rs6008842 Benign
64885 Q9NYQ6 (CELSR1) Y H 1894 rs34467708 Benign
64886 Q9NYQ6 (CELSR1) L P 1994 rs6008795 Benign
64887 Q9NYQ6 (CELSR1) L P 1995 rs6008794 Benign
64888 Q9NYQ6 (CELSR1) T M 2045 rs12169391 Benign
64889 Q9NYQ6 (CELSR1) I V 2107 rs4044210 Benign
64890 Q9NYQ6 (CELSR1) R H 2219 rs34267201 Benign
64891 Q9NYQ6 (CELSR1) T A 2268 rs6007897 Benign
64892 Q9NYQ6 (CELSR1) R P 2312 rs7287089 Benign
64893 Q9NYQ6 (CELSR1) R Q 2438 rs199688538 Disease: Neural tube defects (NTD) [MIM:182940]
64894 Q9NYQ6 (CELSR1) N T 2739 rs148905592 Benign
64895 Q9NYQ6 (CELSR1) C S 2797 rs12165943 Benign
64896 Q9NYQ6 (CELSR1) E Q 2903 rs9615351 Benign
64897 Q9NYQ6 (CELSR1) G S 2948 rs35364389 Benign
64898 Q9NYQ6 (CELSR1) S L 2964 rs6008777 Disease: Neural tube defects (NTD) [MIM:182940]
64899 Q9NYQ6 (CELSR1) P A 2983 rs61741871 Disease: Neural tube defects (NTD) [MIM:182940]
64900 Q9NYQ7 (CELSR3) A P 157 rs3733085 Benign
64901 Q9NYQ7 (CELSR3) S T 805 rs3821875 Benign
64902 Q9NYQ7 (CELSR3) Q R 1758 rs12107252 Benign
64903 Q9NYQ7 (CELSR3) M I 2630 rs149614835 Benign
64904 Q9NYQ8 (FAT2) G A 201 rs11739693 Benign
64905 Q9NYQ8 (FAT2) P S 248 rs3734061 Benign
64906 Q9NYQ8 (FAT2) R C 574 rs1432862 Benign
64907 Q9NYQ8 (FAT2) F S 686 rs9324700 Benign
64908 Q9NYQ8 (FAT2) R Q 992 rs3734056 Benign
64909 Q9NYQ8 (FAT2) G S 1004 rs3734055 Benign
64910 Q9NYQ8 (FAT2) P L 1164 rs2304053 Benign
64911 Q9NYQ8 (FAT2) Y H 1181 rs6872614 Benign
64912 Q9NYQ8 (FAT2) L P 1295 rs35640822 Benign
64913 Q9NYQ8 (FAT2) V M 1462 rs2278371 Benign
64914 Q9NYQ8 (FAT2) G S 1515 rs2278370 Benign
64915 Q9NYQ8 (FAT2) G S 1571 rs10044879 Benign
64916 Q9NYQ8 (FAT2) R W 1895 rs34464977 Benign
64917 Q9NYQ8 (FAT2) G A 2054 rs34493925 Benign
64918 Q9NYQ8 (FAT2) F S 2428 rs6892335 Benign
64919 Q9NYQ8 (FAT2) A T 2907 rs3734053 Benign
64920 Q9NYQ8 (FAT2) R Q 3318 rs7718054 Benign
64921 Q9NYQ8 (FAT2) R W 3318 rs2304024 Benign
64922 Q9NYQ8 (FAT2) L S 3514 rs2053028 Benign
64923 Q9NYQ8 (FAT2) M I 3631 rs6650971 Benign
64924 Q9NYQ8 (FAT2) A G 3664 rs35963695 Benign
64925 Q9NYQ8 (FAT2) Q H 3953 rs2304029 Benign
64926 Q9NYQ8 (FAT2) P L 4117 rs1105168 Benign
64927 Q9NYR8 (RDH8) H Q 136 rs1122206 Benign
64928 Q9NYR8 (RDH8) M T 202 rs1644731 Benign
64929 Q9NYT0 (PLEK2) T M 80 rs34300264 Benign
64930 Q9NYU1 (UGGT2) A T 323 rs12863903 Benign
64931 Q9NYU1 (UGGT2) S A 328 rs816142 Benign
64932 Q9NYU1 (UGGT2) A T 821 rs33949518 Benign
64933 Q9NYU1 (UGGT2) K R 865 rs35060832 Benign
64934 Q9NYU1 (UGGT2) F I 924 rs35780499 Benign
64935 Q9NYU1 (UGGT2) M L 994 rs12876018 Benign
64936 Q9NYU1 (UGGT2) F L 1274 rs9525072 Benign
64937 Q9NYU1 (UGGT2) Y F 1285 rs35123499 Benign
64938 Q9NYV4 (CDK12) P A 530 rs56121596 Benign
64939 Q9NYV4 (CDK12) L Q 1189 rs56362165 Benign
64940 Q9NYV4 (CDK12) P L 1275 rs34070318 Benign
64941 Q9NYV6 (RRN3) I M 348 rs2941256 Benign
64942 Q9NYV7 (TAS2R16) V M 101 rs28371571 Benign
64943 Q9NYV7 (TAS2R16) I V 114 rs28371574 Benign
64944 Q9NYV7 (TAS2R16) L P 116 rs28371575 Benign
64945 Q9NYV7 (TAS2R16) P S 161 rs28371576 Benign
64946 Q9NYV7 (TAS2R16) N K 172 rs846664 Benign
64947 Q9NYV7 (TAS2R16) Q P 177 rs28371577 Benign
64948 Q9NYV7 (TAS2R16) N D 216 rs28371578 Benign
64949 Q9NYV7 (TAS2R16) A V 221 rs28371579 Benign
64950 Q9NYV7 (TAS2R16) R H 222 rs860170 Benign
64951 Q9NYV7 (TAS2R16) V M 235 rs28371580 Benign
64952 Q9NYV7 (TAS2R16) F V 240 rs28371581 Benign
64953 Q9NYV8 (TAS2R14) T A 86 rs16925868 Benign
64954 Q9NYV8 (TAS2R14) L F 201 rs35804287 Benign
64955 Q9NYV9 (TAS2R13) N S 259 rs1015443 Benign
64956 Q9NYW0 (TAS2R10) T M 156 rs597468 Benign
64957 Q9NYW1 (TAS2R9) K Q 170 rs11054043 Benign
64958 Q9NYW1 (TAS2R9) V A 187 rs3741845 Benign
64959 Q9NYW1 (TAS2R9) L V 238 rs11054042 Benign
64960 Q9NYW2 (TAS2R8) M V 308 rs2537817 Benign
64961 Q9NYW3 (TAS2R7) T M 263 rs11838055 Benign
64962 Q9NYW3 (TAS2R7) T S 263 rs3759251 Benign
64963 Q9NYW3 (TAS2R7) M I 304 rs619381 Benign
64964 Q9NYW4 (TAS2R5) G S 20 rs2234013 Benign
64965 Q9NYW4 (TAS2R5) S I 26 rs2227264 Benign
64966 Q9NYW4 (TAS2R5) P L 113 rs2234014 Benign
64967 Q9NYW4 (TAS2R5) Y C 167 rs34529840 Benign
64968 Q9NYW4 (TAS2R5) R Q 213 rs2234015 Benign
64969 Q9NYW4 (TAS2R5) R L 294 rs2234016 Benign
64970 Q9NYW5 (TAS2R4) R Q 3 rs2233995 Benign
64971 Q9NYW5 (TAS2R4) F S 7 rs2233998 Benign
64972 Q9NYW5 (TAS2R4) F L 62 rs2233999 Benign
64973 Q9NYW5 (TAS2R4) T M 74 rs2234000 Benign
64974 Q9NYW5 (TAS2R4) V L 96 rs2234001 Benign
64975 Q9NYW5 (TAS2R4) S N 171 rs2234002 Benign
64976 Q9NYW5 (TAS2R4) I V 191 rs2234003 Benign
64977 Q9NYW7 (TAS2R1) R H 111 rs41469 Benign
64978 Q9NYW7 (TAS2R1) C Y 141 rs2234232 Benign
64979 Q9NYW7 (TAS2R1) R W 206 rs2234233 Benign
64980 Q9NYW8 (RBAK) G E 229 rs35352738 Benign
64981 Q9NYY1 (IL20) R Q 107 rs35856950 Benign
64982 Q9NYY3 (PLK2) E K 436 rs55768901 Benign
64983 Q9NYY3 (PLK2) P L 487 rs55645589 Benign
64984 Q9NYY8 (FASTKD2) S N 15 rs3762568 Benign
64985 Q9NYY8 (FASTKD2) V E 445 rs13003768 Benign
64986 Q9NYZ1 (TVP23B) G E 55 rs61075345 Benign
64987 Q9NYZ2 (SLC25A37) I V 87 rs2942194 Benign
64988 Q9NYZ2 (SLC25A37) R Q 96 rs3736032 Benign
64989 Q9NYZ3 (GTSE1) T A 181 rs6008600 Benign
64990 Q9NYZ3 (GTSE1) A V 200 rs34404175 Benign
64991 Q9NYZ3 (GTSE1) A T 274 rs35503220 Benign
64992 Q9NYZ3 (GTSE1) S N 303 rs6008622 Benign
64993 Q9NYZ3 (GTSE1) S N 322 rs6008622 Benign
64994 Q9NYZ3 (GTSE1) D E 463 rs6008684 Benign
64995 Q9NYZ3 (GTSE1) S L 470 rs2281192 Benign
64996 Q9NYZ3 (GTSE1) W R 506 rs140054 Benign
64997 Q9NYZ3 (GTSE1) A T 635 rs16995138 Benign
64998 Q9NYZ4 (SIGLEC8) S P 170 rs10409962 Benign
64999 Q9NYZ4 (SIGLEC8) R G 388 rs3829659 Benign
65000 Q9NZ01 (TECR) P L 182 rs199469705 Disease: Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020]

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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