GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
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NC_000005.9:g.(?_110077728)_(110083984_?)dup
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NC_000007.14:g.(?_76303782)_(76304193_?)del
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NC_000009.11:g.(130264298_130265053)_(130265271_?)del
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NC_000009.12:g.(?_127502764)_(127502909_?)del
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NC_000011.10:g.(?_9780408)_(10042991_?)del
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NM_000166.6(GJB1):c.-16-2A>G
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rs751230398 |
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
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NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)
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rs1602348782 |
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
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rs1064793139 |
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
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rs786204123 |
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
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NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
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rs1555937009 |
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
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rs1602349603 |
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
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rs863224471 |
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
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rs1060501002 |
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
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NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
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rs1602348662 |
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
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rs768834663 |
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
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rs1057517928 |
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
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rs148881970 |
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
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rs527236038 |
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
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rs752527478 |
NM_000263.4(NAGLU):c.531+1G>A
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NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
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NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
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rs104894623 |
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
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rs863225027 |
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
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NM_000304.4(PMP22):c.281dup (p.Arg95fs)
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rs80338763 |
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
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rs1597597627 |
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)
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rs1597597527 |
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
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rs28936682 |
NM_000304.4(PMP22):c.78+3G>T
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rs1597635528 |
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
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rs138065384 |
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
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NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
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rs121913596 |
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
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rs121913585 |
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
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rs1060503423 |
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)
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rs786204215 |
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
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rs1553259648 |
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
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rs1558154010 |
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
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rs572010627 |
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
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rs121913603 |
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
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rs1571818632 |
NM_000530.8(MPZ):c.448+2T>G
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NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
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rs754068936 |
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
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NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)
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rs755446743 |
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)
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rs121909090 |
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
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rs746903992 |
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg)
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rs199927590 |
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys)
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rs1553141017 |
NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro)
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rs763492075 |
NM_001127660.1(MFN2):c.479T>G (p.Val160Gly)
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rs879253861 |
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser)
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rs879253862 |
NM_001127660.1(MFN2):c.720C>G (p.Phe240Leu)
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rs864622480 |
NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg)
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rs119103264 |
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)
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rs141862602 |
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
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rs1324125372 |
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn)
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rs104894520 |
NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys)
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rs864309705 |
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg)
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rs267606772 |
NM_001303256.3(MORC2):c.263C>T (p.Ala88Val)
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rs1602499659 |
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)
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rs886037934 |
NM_001303256.3(MORC2):c.956G>A (p.Arg319His)
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rs1163530787 |
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)
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rs1567019064 |
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
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NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His)
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rs587781253 |
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
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rs587780564 |
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
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rs1383117534 |
NM_001376.5(DYNC1H1):c.3961-2A>G
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rs1595608413 |
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)
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rs1595597572 |
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
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rs1057518287 |
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)
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rs1595597963 |
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)
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rs373682811 |
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs)
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rs748762287 |
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
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rs587781250 |
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
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NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)
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rs1060503021 |
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)
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rs150110356 |
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)
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NM_001605.2(AARS1):c.328T>C (p.Phe110Leu)
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rs1555542415 |
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
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rs192443850 |
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
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rs768987322 |
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)
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rs863224873 |
NM_002109.6(HARS1):c.397G>T (p.Val133Phe)
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rs1554107200 |
NM_002109.6(HARS1):c.90+1G>C
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rs1554109203 |
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)
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rs886043773 |
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
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rs759641927 |
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)
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rs780594709 |
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)
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rs145226920 |
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu)
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rs754465226 |
NM_002180.2(IGHMBP2):c.1633-2A>G
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rs1566445029 |
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn)
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rs770111639 |
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)
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rs137852667 |
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)
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rs151079750 |
NM_002180.2(IGHMBP2):c.257-2A>G
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rs1566424655 |
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)
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rs886037759 |
NM_002180.2(IGHMBP2):c.449+1G>T
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rs797044802 |
NM_002180.2(IGHMBP2):c.547+1G>A
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rs1057518588 |
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)
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rs777575504 |
NM_002180.3(IGHMBP2):c.1061-1G>C
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NM_002180.3(IGHMBP2):c.1236-1G>T
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NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)
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rs724159994 |
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)
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rs746581714 |
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
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rs140992482 |
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)
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NM_002437.5(MPV17):c.376-9T>G
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rs368900406 |
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)
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rs1563518388 |
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
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rs690016543 |
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs)
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rs1569512576 |
NM_002972.4(SBF1):c.3826+1G>A
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rs1009209509 |
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val)
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rs1404020990 |
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln)
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rs121908834 |
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)
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rs1601814238 |
NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile)
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rs200834352 |
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)
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rs202219398 |
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu)
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rs121918312 |
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg)
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rs762701283 |
NM_005340.7(HINT1):c.289G>A (p.Val97Met)
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rs1554088064 |
NM_005340.7(HINT1):c.2T>C (p.Met1Thr)
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rs1580686455 |
NM_006070.6(TFG):c.826T>C (p.Tyr276His)
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rs1559726842 |
NM_006096.3(NDRG1):c.326+1G>A
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rs1586446057 |
NM_006096.4(NDRG1):c.450+2_450+3del
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NM_006096.4(NDRG1):c.595-2A>T
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NM_006096.4(NDRG1):c.891+2T>C
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NM_006096.4(NDRG1):c.944-1G>T
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rs1588216753 |
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
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rs927119938 |
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys)
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rs1411999109 |
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
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rs1586128169 |
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
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NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
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NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
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NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)
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rs864309526 |
NM_007287.3(MME):c.1666C>T (p.Pro556Ser)
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rs1559961997 |
NM_007287.3(MME):c.1972G>A (p.Ala658Thr)
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rs1559963660 |
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
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NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)
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rs587777712 |
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter)
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rs745790694 |
NM_014845.5(FIG4):c.498-2A>G
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rs1554300952 |
NM_014845.6(FIG4):c.1749_1750+7del
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NM_014845.6(FIG4):c.1890-2A>G
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NM_014845.6(FIG4):c.447-2A>C
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NM_014874.3(MFN2):c.1085C>T (p.Thr362Met)
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rs387906991 |
NM_014874.3(MFN2):c.1126A>G (p.Met376Val)
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rs863224967 |
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter)
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rs1057517987 |
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly)
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rs1266361856 |
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys)
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rs369140232 |
NM_014874.3(MFN2):c.1839dup (p.Thr614fs)
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rs1553145402 |
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp)
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rs119103267 |
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr)
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rs144860227 |
NM_014874.3(MFN2):c.334G>A (p.Val112Met)
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rs757937208 |
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln)
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rs1443036026 |
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe)
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rs863224969 |
NM_014874.3(MFN2):c.497C>T (p.Ala166Val)
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rs1557522849 |
NM_014874.3(MFN2):c.572T>C (p.Leu191Pro)
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rs879254288 |
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro)
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rs879253925 |
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys)
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rs587777875 |
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
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rs879254011 |
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)
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rs1569816262 |
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
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rs1569842296 |
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
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rs1557524703 |
NM_014874.4(MFN2):c.701T>A (p.Met234Lys)
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NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)
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rs28940294 |
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg)
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rs373698346 |
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)
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rs879253863 |
NM_015548.5(DST):c.3319-2694A>G
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rs373440035 |
NM_015560.2(OPA1):c.1346del (p.Thr449fs)
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rs794729196 |
NM_016156.5(MTMR2):c.804+1G>C
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rs1565351898 |
NM_016156.5(MTMR2):c.804+2T>G
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rs1555061026 |
NM_016156.5(MTMR2):c.993+1G>A
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rs1555060614 |
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg)
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NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
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rs769429967 |
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)
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rs762729182 |
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)
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rs770649540 |
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
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rs761035569 |
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
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NM_018972.4(GDAP1):c.311-1790_408del
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NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
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rs936681187 |
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005 |
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
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rs538412810 |
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077 |
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
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rs121908114 |
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
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rs775622226 |
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)
|
rs1586807529 |
NM_020631.5(PLEKHG5):c.440-2A>G
|
rs144750655 |
NM_020680.4(SCYL1):c.1386+1G>T
|
|
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)
|
rs1554969894 |
NM_020956.2(PRX):c.*2494del
|
rs797045102 |
NM_020956.2(PRX):c.*3491_*3561del
|
rs1555800610 |
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669 |
NM_021076.4(NEFH):c.883+1G>C
|
rs1602961831 |
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633 |
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494 |
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu)
|
rs1289139464 |
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144 |
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)
|
rs267607148 |
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)
|
rs751139506 |
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
|
|
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)
|
rs387907340 |
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
|
|
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)
|
rs387907341 |
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg)
|
rs199615251 |
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
|
|
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr)
|
rs387907035 |
NM_022489.4(INF2):c.314T>A (p.Val105Glu)
|
rs1555373363 |
NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
|
rs863224781 |
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926 |
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709 |
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs)
|
rs1561764569 |
NM_024577.3(SH3TC2):c.279+1G>A
|
rs1198337036 |
NM_024577.3(SH3TC2):c.280-2A>G
|
rs1561770798 |
NM_024577.3(SH3TC2):c.3054-2A>C
|
rs1580891465 |
NM_024577.3(SH3TC2):c.3328-1G>T
|
rs1554120331 |
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462 |
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983 |
NM_024577.3(SH3TC2):c.385+2T>C
|
rs773554464 |
NM_024577.3(SH3TC2):c.529+1G>A
|
rs769410348 |
NM_024577.3(SH3TC2):c.806-1G>A
|
rs1554122560 |
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)
|
rs1580900970 |
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter)
|
rs1580900150 |
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
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NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
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rs80338933 |
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs)
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rs1580889913 |
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
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rs80338934 |
NM_024577.4(SH3TC2):c.386-2A>C
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rs145670786 |
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
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NM_025137.4(SPG11):c.5199del (p.Lys1733fs)
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rs779268551 |
NM_030962.3(SBF2):c.1297-2A>G
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rs752649372 |
NM_030962.3(SBF2):c.1395+1G>A
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NM_030962.3(SBF2):c.1929+15398_2137del
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NM_030962.3(SBF2):c.3110+2_3110+4delinsGAG
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NM_030962.3(SBF2):c.3653-1G>A
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NM_030962.3(SBF2):c.5037+1G>C
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NM_030962.3:c.161G>A
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NM_030973.3(MED25):c.316G>A (p.Gly106Arg)
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rs535472885 |
NM_030973.4(MED25):c.135-1G>A
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NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
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NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser)
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rs772536764 |
NM_033500.2(HK1):c.-141A>G
|
rs1589439508 |
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs)
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NM_138361.5(LRSAM1):c.1043+1G>A
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NM_138361.5(LRSAM1):c.1043+2T>G
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rs746455518 |
NM_138361.5(LRSAM1):c.1348-1G>A
|
rs747659617 |
NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs)
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NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs)
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rs876661208 |
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter)
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rs1588143112 |
NM_138361.5(LRSAM1):c.2008del (p.Val670fs)
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NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs)
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rs1315010600 |
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg)
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rs879253755 |
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs)
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rs1554763035 |
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu)
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rs797044913 |
NM_138361.5(LRSAM1):c.750+2T>G
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NM_138361.5(LRSAM1):c.847_1088+563del
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NM_138361.5(LRSAM1):c.904-2A>G
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NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)
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rs1554093168 |
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln)
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rs1184021143 |
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
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rs1580870705 |
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
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NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
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rs1390567933 |
NM_139241.3(FGD4):c.1833_1902+238delinsGGAGG
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NM_139241.3(FGD4):c.494dup (p.Leu167fs)
|
rs1592294998 |
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)
|
rs1135401822 |
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245 |
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)
|
rs1599705281 |
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887 |
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)
|
rs1135401821 |
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)
|
rs863224847 |
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172 |
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581 |
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963 |
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
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NM_181882.3(PRX):c.122del (p.Gly41fs)
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NM_181882.3(PRX):c.184+2T>C
|
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NM_181882.3(PRX):c.27+1G>T
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NM_181882.3(PRX):c.2T>C (p.Met1Thr)
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NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)
|
rs1599651726 |
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549 |
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
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|
NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs)
|
rs751292488 |
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)
|
rs142117467 |
Single allele
|
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