ClinVar Miner

List of variants reported as not provided for not provided by UniProtKB/Swiss-Prot

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 534
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01097
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) rs115582620 0.00439
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu) rs111327589 0.00395
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) rs36026860 0.00100
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_006080.3(SEMA3A):c.196C>T (p.Arg66Trp) rs199979628 0.00043
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) rs281875280 0.00038
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961 0.00035
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469 0.00027
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) rs318240760 0.00020
NM_018117.12(WDR11):c.1343G>A (p.Arg448Gln) rs144440500 0.00018
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) rs318240751 0.00013
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_018117.12(WDR11):c.2932A>C (p.Lys978Gln) rs144531702 0.00010
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00010
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) rs201884120 0.00010
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val) rs199474740 0.00006
NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro) rs281875290 0.00006
NM_000128.4(F11):c.127G>A (p.Ala43Thr) rs281875264 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) rs318240753 0.00004
NM_018117.12(WDR11):c.1183C>T (p.Arg395Trp) rs201051480 0.00004
NM_018117.12(WDR11):c.2070T>A (p.His690Gln) rs318240761 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) rs179363890 0.00003
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001099857.5(IKBKG):c.367C>T (p.Arg123Trp) rs179363895 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) rs318240752 0.00003
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773 0.00003
NM_139027.6(ADAMTS13):c.3487C>T (p.Arg1163Trp) rs281875339 0.00003
NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys) rs281875285 0.00003
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg) rs137854513 0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_030787.4(CFHR5):c.829T>A (p.Tyr277Asn) rs318240756 0.00002
NM_139027.6(ADAMTS13):c.1520G>A (p.Arg507Gln) rs281875296 0.00002
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000128.4(F11):c.100G>C (p.Asp34His) rs281875267 0.00001
NM_000128.4(F11):c.1021G>A (p.Glu341Lys) rs281875270 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.137G>T (p.Cys46Phe) rs281875271 0.00001
NM_000128.4(F11):c.1517A>G (p.Asp506Gly) rs281875258 0.00001
NM_000128.4(F11):c.1578C>G (p.Asp526Glu) rs281875263 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.419G>A (p.Cys140Tyr) rs281875256 0.00001
NM_000128.4(F11):c.959T>C (p.Leu320Pro) rs281875268 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000433.4(NCF2):c.235A>G (p.Met79Val) rs137854512 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) rs199474688 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) rs199476374 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.685C>T (p.His229Tyr) rs199476354 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) rs199476347 0.00001
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn) rs199476343 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) rs121918124 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val) rs193302879 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro) rs193302902 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys) rs281875217 0.00001
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) rs281875220 0.00001
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 0.00001
NM_001366385.1(CARD14):c.571G>T (p.Val191Leu) rs281875218 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762 0.00001
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_013251.4(TAC3):c.269T>C (p.Met90Thr) rs121918123 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) rs281875338 0.00001
NM_139027.6(ADAMTS13):c.1170G>C (p.Trp390Cys) rs281875306 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.1973A>G (p.Tyr658Cys) rs281875335 0.00001
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340 0.00001
NM_139027.6(ADAMTS13):c.3838C>T (p.Arg1280Trp) rs281875308 0.00001
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln) rs281875174
NM_000062.3(SERPING1):c.1322T>C (p.Met441Thr) rs281875175
NM_000062.3(SERPING1):c.1340T>C (p.Leu447Pro) rs281875176
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>T (p.Arg466Leu) rs121907948
NM_000062.3(SERPING1):c.1418T>G (p.Val473Gly) rs281875177
NM_000062.3(SERPING1):c.1490A>G (p.Asp497Gly) rs281875178
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys) rs281875168
NM_000062.3(SERPING1):c.509C>T (p.Ser170Phe) rs281875169
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro) rs281875171
NM_000062.3(SERPING1):c.695T>A (p.Ile232Lys) rs281875172
NM_000062.3(SERPING1):c.895T>C (p.Trp299Arg) rs281875173
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000082.4(ERCC8):c.582G>C (p.Trp194Cys) rs281875223
NM_000082.4(ERCC8):c.605T>C (p.Leu202Ser) rs281875224
NM_000101.4(CYBA):c.158A>T (p.Glu53Val) rs179363893
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.74G>T (p.Gly25Val) rs179363891
NM_000128.4(F11):c.1079T>C (p.Leu360Pro) rs281875254
NM_000128.4(F11):c.1201T>C (p.Trp401Arg) rs281875262
NM_000128.4(F11):c.1361T>A (p.Ile454Lys) rs281875241
NM_000128.4(F11):c.1442T>G (p.Ile481Ser) rs281875242
NM_000128.4(F11):c.1507T>C (p.Ser503Pro) rs140068026
NM_000128.4(F11):c.151A>C (p.Thr51Pro) rs281875243
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.1531T>C (p.Tyr511His) rs281875278
NM_000128.4(F11):c.1541G>T (p.Cys514Phe) rs281875249
NM_000128.4(F11):c.159C>A (p.His53Gln) rs281875261
NM_000128.4(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.4(F11):c.452A>G (p.Tyr151Cys) rs281875273
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.4(F11):c.738G>C (p.Trp246Cys) rs281875279
NM_000128.4(F11):c.755G>C (p.Arg252Thr) rs281875260
NM_000128.4(F11):c.764G>A (p.Cys255Tyr) rs281875277
NM_000128.4(F11):c.788G>A (p.Gly263Glu) rs281875274
NM_000128.4(F11):c.827C>G (p.Ser276Cys) rs281875247
NM_000128.4(F11):c.830G>A (p.Gly277Asp) rs281875248
NM_000128.4(F11):c.94G>A (p.Gly32Arg) rs281875259
NM_000128.4(F11):c.992C>T (p.Thr331Ile) rs281875253
NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala) rs179363872
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.899A>T (p.Asp300Val) rs179363874
NM_000383.4(AIRE):c.230T>C (p.Phe77Ser) rs179363887
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.238G>T (p.Val80Leu) rs179363881
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.977C>A (p.Pro326Gln) rs179363885
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr) rs151344484
NM_000397.4(CYBB):c.1016C>A (p.Pro339His) rs151344470
NM_000397.4(CYBB):c.1025T>A (p.Leu342Gln) rs151344495
NM_000397.4(CYBB):c.1031C>T (p.Ser344Phe) rs151344485
NM_000397.4(CYBB):c.1067G>C (p.Arg356Pro) rs151344471
NM_000397.4(CYBB):c.1166G>A (p.Gly389Glu) rs137854586
NM_000397.4(CYBB):c.1166G>C (p.Gly389Ala) rs137854586
NM_000397.4(CYBB):c.1214T>G (p.Met405Arg) rs151344472
NM_000397.4(CYBB):c.121T>G (p.Tyr41Asp) rs151344453
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg) rs151344473
NM_000397.4(CYBB):c.1223G>A (p.Gly408Glu) rs151344474
NM_000397.4(CYBB):c.1244C>A (p.Pro415His) rs137854585
NM_000397.4(CYBB):c.1244C>T (p.Pro415Leu) rs137854585
NM_000397.4(CYBB):c.1259T>C (p.Leu420Pro) rs151344486
NM_000397.4(CYBB):c.1264T>C (p.Ser422Pro) rs151344475
NM_000397.4(CYBB):c.1357T>C (p.Trp453Arg) rs151344476
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly) rs137854593
NM_000397.4(CYBB):c.1514T>G (p.Leu505Arg) rs151344490
NM_000397.4(CYBB):c.1546T>C (p.Trp516Arg) rs151344487
NM_000397.4(CYBB):c.1548G>T (p.Trp516Cys) rs151344477
NM_000397.4(CYBB):c.1601T>A (p.Val534Asp) rs151344478
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
NM_000397.4(CYBB):c.161G>T (p.Arg54Met) rs151344479
NM_000397.4(CYBB):c.162G>C (p.Arg54Ser) rs151344456
NM_000397.4(CYBB):c.1637T>C (p.Leu546Pro) rs151344492
NM_000397.4(CYBB):c.164C>A (p.Ala55Asp) rs151344480
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu) rs151344481
NM_000397.4(CYBB):c.175T>C (p.Cys59Arg) rs151344457
NM_000397.4(CYBB):c.177C>G (p.Cys59Trp) rs151344488
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.4(CYBB):c.302A>G (p.His101Arg) rs137854591
NM_000397.4(CYBB):c.356A>G (p.His119Arg) rs151344458
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr) rs137854590
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.535G>A (p.Gly179Arg) rs151344491
NM_000397.4(CYBB):c.578C>T (p.Ser193Phe) rs151344493
NM_000397.4(CYBB):c.58G>C (p.Gly20Arg) rs151344455
NM_000397.4(CYBB):c.613T>A (p.Phe205Ile) rs151344496
NM_000397.4(CYBB):c.625C>T (p.His209Tyr) rs137854587
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.627T>A (p.His209Gln) rs151344459
NM_000397.4(CYBB):c.664C>A (p.His222Asn) rs151344460
NM_000397.4(CYBB):c.664C>T (p.His222Tyr) rs151344460
NM_000397.4(CYBB):c.665A>G (p.His222Arg) rs151344462
NM_000397.4(CYBB):c.667G>T (p.Gly223Ter) rs151344463
NM_000397.4(CYBB):c.668G>T (p.Gly223Val) rs151344464
NM_000397.4(CYBB):c.671C>G (p.Ala224Gly) rs151344483
NM_000397.4(CYBB):c.674A>T (p.Glu225Val) rs151344494
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000397.4(CYBB):c.730T>C (p.Cys244Arg) rs151344465
NM_000397.4(CYBB):c.731G>A (p.Cys244Tyr) rs137854589
NM_000397.4(CYBB):c.731G>C (p.Cys244Ser) rs137854589
NM_000397.4(CYBB):c.907C>A (p.His303Asn) rs137854595
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg) rs137854596
NM_000397.4(CYBB):c.919A>C (p.Thr307Pro) rs151344489
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu) rs151344467
NM_000397.4(CYBB):c.973A>T (p.Ile325Phe) rs151344468
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro) rs151344469
NM_000433.4(NCF2):c.983G>A (p.Arg328Lys) rs137854511
NM_000448.3(RAG1):c.1187G>T (p.Arg396Leu) rs104894291
NM_000448.3(RAG1):c.1201T>C (p.Ser401Pro) rs199474682
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2564A>T (p.Asn855Ile) rs199474690
NM_000448.3(RAG1):c.2654T>G (p.Leu885Arg) rs199474691
NM_000448.3(RAG1):c.730A>G (p.Arg244Gly) rs199474683
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) rs199476350
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) rs6151425
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly) rs199476385
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) rs199476362
NM_000487.6(ARSA):c.286C>G (p.Pro96Ala) rs199476353
NM_000487.6(ARSA):c.290G>A (p.Ser97Asn) rs199476363
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) rs199476364
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465G>C (p.Gln155His) rs199476377
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) rs199476348
NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr) rs199476381
NM_000487.6(ARSA):c.548T>A (p.Leu183Gln) rs199476378
NM_000487.6(ARSA):c.576G>C (p.Gln192His) rs199476372
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) rs199476339
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.661T>G (p.Phe221Val) rs199476383
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) rs199476367
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.91G>A (p.Asp31Asn) rs199476346
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.94G>C (p.Asp32His) rs199476340
NM_001004334.4(GPR179):c.1364G>A (p.Gly455Asp) rs281875235
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr) rs281875234
NM_001004334.4(GPR179):c.376G>C (p.Asp126His) rs281875233
NM_001042492.3(NF1):c.1010A>T (p.Glu337Val) rs199474736
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1177C>G (p.His393Asp) rs199474768
NM_001042492.3(NF1):c.1178A>T (p.His393Leu) rs199474769
NM_001042492.3(NF1):c.1556A>C (p.Gln519Pro) rs199474770
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1742T>C (p.Ile581Thr) rs199474759
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1810T>G (p.Leu604Val) rs142712751
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_001042492.3(NF1):c.221C>A (p.Ala74Asp) rs199474726
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr) rs199474771
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro) rs199474775
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.3440T>C (p.Leu1147Pro) rs199474779
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3497G>A (p.Gly1166Asp) rs199474787
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys) rs199474780
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3749G>C (p.Arg1250Pro) rs199474765
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln) rs199474790
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg) rs199474788
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro) rs199474734
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4451C>T (p.Ser1484Phe) rs199474772
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn) rs199474744
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser) rs199474782
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg) rs199474753
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6034G>A (p.Asp2012Asn) rs199474783
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6661C>G (p.Pro2221Ala) rs199474776
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys) rs199474784
NM_001042492.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_001042492.3(NF1):c.988G>A (p.Ala330Thr) rs199474767
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) rs121918125
NM_001099857.5(IKBKG):c.1250G>A (p.Cys417Tyr) rs137853326
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe) rs137853326
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) rs179363866
NM_001099857.5(IKBKG):c.524G>C (p.Arg175Pro) rs179363868
NM_001099857.5(IKBKG):c.680T>C (p.Leu227Pro) rs179363869
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_001099857.5(IKBKG):c.967G>C (p.Ala323Pro) rs179363865
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1118C>A (p.Ala373Asp) rs193302901
NM_001164277.2(SLC37A4):c.1126G>A (p.Gly376Ser) rs193302897
NM_001164277.2(SLC37A4):c.148G>C (p.Gly50Arg) rs193302894
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.162C>A (p.Ser54Arg) rs193302898
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.2(SLC37A4):c.254T>C (p.Leu85Pro) rs193302899
NM_001164277.2(SLC37A4):c.263G>A (p.Gly88Asp) rs193302886
NM_001164277.2(SLC37A4):c.398A>C (p.Gln133Pro) rs193302896
NM_001164277.2(SLC37A4):c.526T>C (p.Cys176Arg) rs193302895
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001165963.4(SCN1A):c.4910T>A (p.Val1637Glu) rs121918810
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.413A>C (p.Glu138Ala) rs281875214
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001366385.1(CARD14):c.511C>A (p.His171Asn) rs281875216
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn) rs114688446
NM_001366385.1(CARD14):c.854A>G (p.Asp285Gly) rs281875219
NM_001379081.2(FREM1):c.1945C>T (p.Arg649Trp) rs121912609
NM_001379081.2(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile) rs281875282
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.364A>G (p.Ile122Val) rs281875330
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2264A>G (p.Lys755Arg) rs281875203
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) rs281875191
NM_003070.5(SMARCA2):c.2551G>C (p.Asp851His) rs281875206
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys) rs281875199
NM_003070.5(SMARCA2):c.2556A>C (p.Glu852Asp) rs281875193
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.2641G>C (p.Gly881Arg) rs281875194
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.2837T>C (p.Leu946Ser) rs281875200
NM_003070.5(SMARCA2):c.2838A>T (p.Leu946Phe) rs281875205
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3404T>C (p.Leu1135Pro) rs281875195
NM_003070.5(SMARCA2):c.3436A>C (p.Ser1146Arg) rs281875204
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3562G>C (p.Ala1188Pro) rs281875196
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3614A>G (p.Asp1205Gly) rs281875201
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_004637.6(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.6(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.6(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.6(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro) rs281875283
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile) rs281875284
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_006118.4(HAX1):c.389T>G (p.Leu130Arg) rs179363871
NM_006118.4(HAX1):c.421T>C (p.Phe141Leu) rs179363870
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) rs1582171003
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.4(MLC1):c.353C>G (p.Thr118Arg) rs281875316
NM_015166.4(MLC1):c.373T>C (p.Cys125Arg) rs281875314
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.4(MLC1):c.733G>C (p.Ala245Pro) rs281875312
NM_015166.4(MLC1):c.736A>C (p.Ser246Arg) rs281875315
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu) rs281875231
NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro) rs281875232
NM_030787.4(CFHR5):c.1308G>T (p.Trp436Cys) rs201265664
NM_030787.4(CFHR5):c.314T>G (p.Leu105Arg) rs318240754
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr) rs281875210
NM_139027.6(ADAMTS13):c.1039T>A (p.Cys347Ser) rs281875294
NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys) rs281875288
NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr) rs281875305
NM_139027.6(ADAMTS13):c.1574G>A (p.Gly525Asp) rs281875286
NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu) rs281875295
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met) rs281875297
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.2723G>A (p.Cys908Tyr) rs281875301
NM_139027.6(ADAMTS13):c.2723G>C (p.Cys908Ser) rs281875301
NM_139027.6(ADAMTS13):c.3548G>T (p.Gly1183Val) rs281875303
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.533T>C (p.Ile178Thr) rs281875289
NM_139027.6(ADAMTS13):c.607T>C (p.Ser203Pro) rs281875298
NM_139027.6(ADAMTS13):c.695T>A (p.Leu232Gln) rs281875292
NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln) rs281875304
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.788C>G (p.Ser263Cys) rs281875293
NM_139027.6(ADAMTS13):c.932G>A (p.Cys311Tyr) rs281875336
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) rs199473704
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) rs199473704
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) rs199473705
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe) rs318240757
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290

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