DNM2, 9-BP DEL, NT1652
|
|
FGD4, 893T-G
|
|
GDAP1, IVS4DS, G-A, +1
|
|
GJB1, -526G-C
|
|
GJB1, -528T-G
|
|
GJB1, 1-BP DEL
|
|
GJB1, 21-BP DUP
|
|
GJB1, 3-BP DEL, 304GAG
|
|
GJB1, 367G-T
|
|
INF2, 9-BP DEL, NT490
|
|
MFN2, EX7-8DEL
|
|
MPZ, ASP195TYR
|
|
MPZ, THR216GLU-ARG
|
|
MTMR2, 10-BP DEL/2-BP INS
|
|
MTMR2, IVS13, G-A, +1
|
|
NG_007943.1:g.(43089_43830)_(47717_51712)dup
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824 |
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)
|
rs483352926 |
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819 |
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823 |
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821 |
NM_000166.6(GJB1):c.37G>T (p.Val13Leu)
|
rs104894820 |
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)
|
rs104894813 |
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826 |
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812 |
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)
|
rs104894810 |
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818 |
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811 |
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822 |
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814 |
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825 |
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)
|
rs104894817 |
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122 |
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623 |
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623 |
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691 |
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618 |
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763 |
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763 |
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111 |
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617 |
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625 |
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626 |
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161 |
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159 |
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158 |
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
|
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596 |
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598 |
NM_000530.8(MPZ):c.178G>C (p.Asp60His)
|
rs121913604 |
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605 |
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
|
rs121913585 |
NM_000530.8(MPZ):c.188_190del (p.Ser63del)
|
rs879254109 |
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597 |
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594 |
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584 |
NM_000530.8(MPZ):c.276G>A (p.Val92=)
|
rs1558154193 |
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583 |
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)
|
rs121913606 |
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590 |
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589 |
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589 |
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600 |
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)
|
rs121913609 |
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
|
rs121913608 |
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595 |
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599 |
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)
|
rs121913587 |
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588 |
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603 |
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054 |
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)
|
rs1553190285 |
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)
|
rs1553192086 |
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)
|
rs1553192091 |
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)
|
rs1553192091 |
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)
|
rs1553192783 |
NM_000902.4(MME):c.1265C>A (p.Ala422Asp)
|
rs777476150 |
NM_000902.4(MME):c.1861T>C (p.Cys621Arg)
|
rs879253752 |
NM_000902.4(MME):c.439+2T>A
|
rs1057519024 |
NM_000902.4(MME):c.467del (p.Pro156fs)
|
rs749320057 |
NM_000902.4(MME):c.654+1G>A
|
rs1057519023 |
NM_000902.4(MME):c.655-2A>G
|
rs765591205 |
NM_000902.4(MME):c.661C>T (p.Gln221Ter)
|
rs879253751 |
NM_000902.4(MME):c.71G>A (p.Trp24Ter)
|
rs886039755 |
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs)
|
rs786201017 |
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del)
|
rs1478175861 |
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile)
|
rs119103266 |
NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264 |
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085 |
NM_001136473.1(LITAF):c.*69G>A
|
rs121908615 |
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519 |
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520 |
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521 |
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val)
|
rs104894522 |
NM_001142386.3(PDK3):c.473G>A (p.Arg158His)
|
rs397515323 |
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772 |
NM_001204402.1(PRPS1):c.-159T>C
|
rs869025594 |
NM_001204402.1(PRPS1):c.-82-4220C>G
|
rs587777150 |
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)
|
rs864309504 |
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)
|
rs886037934 |
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503 |
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs)
|
rs1565921326 |
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738 |
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571 |
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680 |
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)
|
rs28939681 |
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr)
|
rs387906792 |
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621 |
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647 |
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645 |
NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643 |
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)
|
rs137852648 |
NM_002109.6(HARS1):c.1090G>T (p.Asp364Tyr)
|
rs863225124 |
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile)
|
rs143473232 |
NM_002109.6(HARS1):c.401C>A (p.Pro134His)
|
rs863225122 |
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414 |
NM_002109.6(HARS1):c.525T>G (p.Asp175Glu)
|
rs863225123 |
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)
|
rs724159959 |
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714 |
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr)
|
rs724159960 |
NM_002180.2(IGHMBP2):c.449+1G>T
|
rs797044802 |
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val)
|
rs724159958 |
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)
|
rs724159994 |
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482 |
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258 |
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406 |
NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)
|
rs879253869 |
NM_002677.5(PMP2):c.151A>C (p.Thr51Pro)
|
rs1563518390 |
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)
|
rs1563518388 |
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731 |
NM_002764.3(PRPS1):c.343A>G (p.Met115Val)
|
rs587781262 |
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732 |
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe)
|
rs587781263 |
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)
|
rs587776986 |
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543 |
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568 |
NM_003172.4(SURF1):c.107-2A>G
|
rs782726390 |
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413 |
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs)
|
rs864309500 |
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833 |
NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile)
|
rs786204003 |
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del)
|
rs786200893 |
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834 |
NM_003681.5(PDXK):c.659G>A (p.Arg220Gln)
|
rs759333796 |
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)
|
rs757480516 |
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)
|
rs1057518895 |
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)
|
rs281864468 |
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile)
|
rs1603227409 |
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser)
|
rs1603224817 |
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783 |
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe)
|
rs121909078 |
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn)
|
rs121909081 |
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr)
|
rs121909080 |
NM_004637.5(RAB7A):c.484G>A (p.Val162Met)
|
rs121909079 |
NM_004715.4(CTDP1):c.863+389C>T
|
rs113994102 |
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys)
|
rs121909093 |
NM_004945.3(DNM2):c.1697T>A (p.Leu566His)
|
rs121909094 |
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718 |
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)
|
rs781249411 |
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)
|
rs149782619 |
NM_005340.7(HINT1):c.152A>G (p.His51Arg)
|
rs397514491 |
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)
|
rs397514492 |
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg)
|
rs397514489 |
NM_005340.7(HINT1):c.266G>T (p.Gly89Val)
|
rs397514490 |
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp)
|
rs397514493 |
NM_005340.7(HINT1):c.334C>A (p.His112Asn)
|
rs373849532 |
NM_005548.2(KARS1):c.314T>A (p.Leu105His)
|
rs267607194 |
NM_005548.2(KARS1):c.430_431dup (p.Tyr145fs)
|
rs587776688 |
NM_006070.6(TFG):c.806G>T (p.Gly269Val)
|
rs587777789 |
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)
|
rs207482230 |
NM_006096.3(NDRG1):c.538-1G>A
|
rs11575976 |
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503 |
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286 |
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg)
|
rs60261494 |
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro)
|
rs62636505 |
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919 |
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter)
|
rs121913663 |
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs)
|
rs58640772 |
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter)
|
rs199422214 |
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585 |
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del)
|
rs3832558 |
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910 |
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073 |
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr)
|
rs121434302 |
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526 |
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu)
|
rs121434303 |
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu)
|
rs121434299 |
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln)
|
rs121434300 |
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser)
|
rs121434301 |
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844 |
NM_006329.3(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479 |
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr)
|
rs28939072 |
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)
|
rs864309502 |
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)
|
rs864309501 |
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207 |
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)
|
|
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn)
|
rs104894345 |
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile)
|
rs28940281 |
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631 |
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287 |
NM_014845.5(FIG4):c.290-2A>T
|
rs587777715 |
NM_014845.5(FIG4):c.294del (p.Phe98fs)
|
rs1562648373 |
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713 |
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288 |
NM_014845.5(FIG4):c.759del (p.Phe254fs)
|
rs764717219 |
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714 |
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn)
|
rs119103261 |
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991 |
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265 |
NM_014874.3(MFN2):c.1392+2T>C
|
rs111723244 |
NM_014874.3(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758 |
NM_014874.3(MFN2):c.205G>T (p.Val69Phe)
|
rs28940296 |
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267 |
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292 |
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293 |
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263 |
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291 |
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268 |
NM_014874.3(MFN2):c.493C>G (p.His165Asp)
|
rs119103262 |
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser)
|
rs387906990 |
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295 |
NM_014874.3(MFN2):c.839G>A (p.Arg280His)
|
rs28940294 |
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu)
|
rs121908160 |
NM_015263.4(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)
|
rs606231461 |
NM_015271.5(TRIM2):c.1781del (p.Lys594fs)
|
rs587777838 |
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)
|
rs879253863 |
NM_015271.5(TRIM2):c.761A>T (p.Glu254Val)
|
rs587777063 |
NM_015560.2(OPA1):c.1294A>G (p.Ile432Val)
|
rs387906899 |
NM_015560.2(OPA1):c.1316G>T (p.Gly439Val)
|
rs387906900 |
NM_015560.2(OPA1):c.1334G>A (p.Arg445His)
|
rs80356529 |
NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg)
|
rs398124298 |
NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr)
|
rs879255592 |
NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys)
|
rs121908376 |
NM_015560.2(OPA1):c.2729T>A (p.Val910Asp)
|
rs387906901 |
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs)
|
rs879255513 |
NM_015726.4(DCAF8):c.949C>T (p.Arg317Cys)
|
rs587777425 |
NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234 |
NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter)
|
rs1268684924 |
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402 |
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter)
|
rs121434404 |
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403 |
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)
|
rs606231237 |
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
|
rs1586803063 |
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078 |
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442 |
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441 |
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079 |
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076 |
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075 |
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu)
|
rs121908113 |
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser)
|
rs267606842 |
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114 |
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080 |
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr)
|
rs121908115 |
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu)
|
rs397515443 |
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906 |
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)
|
rs121908112 |
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432 |
NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met)
|
rs397515456 |
NM_020631.5(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898 |
NM_020631.5(PLEKHG5):c.38del (p.Pro13fs)
|
rs397515454 |
NM_020631.5(PLEKHG5):c.912_918dup (p.Glu307Ter)
|
rs397515455 |
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)
|
rs1554969925 |
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)
|
rs1554967681 |
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)
|
rs1554970375 |
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)
|
rs942522644 |
NM_020956.2(PRX):c.*1399_*1402del
|
rs1599655206 |
NM_020956.2(PRX):c.*2156G>A
|
rs3814290 |
NM_020956.2(PRX):c.*2350T>A
|
rs104894707 |
NM_020956.2(PRX):c.*3413C>T
|
rs104894708 |
NM_020956.2(PRX):c.*590_*599dup
|
rs1599656972 |
NM_020956.2(PRX):c.*791C>T
|
rs104894706 |
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs)
|
rs876657411 |
NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs)
|
rs876657412 |
NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr)
|
rs387906902 |
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494 |
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904 |
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146 |
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144 |
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143 |
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145 |
NM_021625.4(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905 |
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)
|
rs387907340 |
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)
|
rs387907341 |
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034 |
NM_022489.4(INF2):c.311G>T (p.Cys104Phe)
|
rs387907035 |
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)
|
rs387907036 |
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
|
rs387907037 |
NM_022489.4(INF2):c.395T>G (p.Leu132Arg)
|
rs387907038 |
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923 |
NM_024577.3(SH3TC2):c.1747_1748delAG
|
rs80338924 |
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925 |
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932 |
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890 |
NM_024577.3(SH3TC2):c.530-2A>G
|
rs80338920 |
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933 |
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934 |
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084 |
NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs)
|
rs312262716 |
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)
|
rs863225440 |
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963 |
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)
|
rs863225439 |
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139 |
NM_030962.3(SBF2):c.2875C>T (p.Gln959Ter)
|
rs120074137 |
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138 |
NM_030962.3(SBF2):c.4443+1G>C
|
rs1564872328 |
NM_030973.3(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066 |
NM_033500.2(HK1):c.-390-3818G>C
|
rs397514654 |
NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=)
|
rs387907032 |
NM_138361.5(LRSAM1):c.2047-1G>A
|
rs1564287793 |
NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr)
|
rs886041051 |
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs)
|
rs786200930 |
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp)
|
rs1057518748 |
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)
|
rs746681765 |
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro)
|
rs1057519294 |
NM_138773.4(SLC25A46):c.166dup (p.His56fs)
|
rs1057519416 |
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg)
|
rs1057519295 |
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile)
|
rs1057519296 |
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp)
|
rs200725073 |
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)
|
rs1057518749 |
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)
|
rs1057518750 |
NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter)
|
rs118203973 |
NM_139241.3(FGD4):c.1762-2A>G
|
rs281865065 |
NM_139241.3(FGD4):c.670C>T (p.Arg224Ter)
|
rs118203972 |
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter)
|
rs118203974 |
NM_139241.3(FGD4):c.893T>C (p.Met298Thr)
|
rs63749871 |
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771 |
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338 |
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
|
|
PMP22, 1.1- to 1.5-MB DEL
|
|
PMP22, 1.4-MB DUP
|
|
PMP22, 1.4-MB TRIPLICATION
|
|
SBF2, EX11-12DEL
|
|
SCL25A46, 1.897-KB DEL
|
|