NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)
|
rs2297881
|
0.03425
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)
|
rs774995635
|
0.00019
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)
|
rs781249411
|
0.00004
|
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)
|
rs387906990
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val)
|
rs1299997613
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met)
|
rs397515456
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)
|
rs104894810
|
0.00001
|
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)
|
rs121913609
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)
|
rs118203973
|
0.00001
|
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)
|
rs28939681
|
0.00001
|
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp)
|
rs777601008
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr)
|
rs724159960
|
0.00001
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)
|
rs587776986
|
0.00001
|
NM_003172.4(SURF1):c.107-2A>G
|
rs782726390
|
0.00001
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_007289.4(MME):c.655-2A>G
|
rs765591205
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
GRCh38/hg20 17p12(chr17:14170534-15591587)x4
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NC_012920.1:m.1661A>G
|
rs1057516055
|
|
NG_007943.1:g.(43089_43830)_(47717_51712)dup
|
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup)
|
rs1555937071
|
|
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.304G>T (p.Glu102Ter)
|
rs1602349143
|
|
NM_000166.6(GJB1):c.304_306del (p.Glu102del)
|
rs1555937135
|
|
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.410del (p.Ile137fs)
|
rs1602349316
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818
|
|
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.89T>A (p.Ile30Asn)
|
rs104894817
|
|
NM_000214.3(JAG1):c.1731C>G (p.Ser577Arg)
|
rs2122606362
|
|
NM_000214.3(JAG1):c.1948T>C (p.Ser650Pro)
|
rs2122604480
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111
|
|
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.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.293G>C (p.Arg98Pro)
|
rs121913589
|
|
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600
|
|
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.404T>C (p.Ile135Thr)
|
rs121913587
|
|
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588
|
|
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054
|
|
NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG
|
rs2102257349
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
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_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772
|
|
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)
|
rs121909093
|
|
NM_001005361.3(DNM2):c.1664_1671+1del
|
rs1568314339
|
|
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)
|
rs121909094
|
|
NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=)
|
rs387907032
|
|
NM_001005373.4(LRSAM1):c.2047-1G>A
|
rs1564287793
|
|
NM_001005373.4(LRSAM1):c.2081G>A (p.Cys694Tyr)
|
rs886041051
|
|
NM_001005373.4(LRSAM1):c.2121_2122dup (p.Leu708fs)
|
rs786200930
|
|
NM_001097642.3(GJB1):c.-16-511G>C
|
rs2147944334
|
|
NM_001097642.3(GJB1):c.-16-513T>G
|
rs1003232768
|
|
NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)
|
rs2102125471
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521
|
|
NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)
|
rs104894522
|
|
NM_001136472.2(LITAF):c.430G>A (p.Val144Met)
|
rs121908615
|
|
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_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)
|
|
|
NM_001365088.1(SLC12A6):c.2036A>C (p.Tyr679Ser)
|
|
|
NM_001365088.1(SLC12A6):c.2036A>G (p.Tyr679Cys)
|
rs2140682156
|
|
NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)
|
|
|
NM_001365088.1(SLC12A6):c.620G>A (p.Arg207His)
|
rs1555381416
|
|
NM_001365088.1(SLC12A6):c.865G>A (p.Glu289Lys)
|
|
|
NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)
|
rs121908160
|
|
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)
|
rs118203972
|
|
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)
|
rs1565921326
|
|
NM_001370298.3(FGD4):c.2173-2A>G
|
rs281865065
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr)
|
rs2060050669
|
|
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter)
|
rs2060161763
|
|
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln)
|
rs2060541274
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680
|
|
NM_001605.3(AARS1):c.1009G>A (p.Glu337Lys)
|
rs2152160733
|
|
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.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.794C>A (p.Ser265Tyr)
|
rs1554337974
|
|
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.525T>G (p.Asp175Glu)
|
rs863225123
|
|
NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly)
|
rs724159959
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.449+1G>T
|
rs797044802
|
|
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val)
|
rs724159958
|
|
NM_002224.4(ITPR3):c.1843G>A (p.Val615Met)
|
|
|
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)
|
|
|
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)
|
|
|
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_002764.4(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731
|
|
NM_002764.4(PRPS1):c.343A>G (p.Met115Val)
|
rs587781262
|
|
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732
|
|
NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)
|
rs587777150
|
|
NM_002764.4(PRPS1):c.46T>C (p.Ser16Pro)
|
rs869025594
|
|
NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)
|
rs587781263
|
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543
|
|
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
|
rs864309500
|
|
NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833
|
|
NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)
|
rs786204003
|
|
NM_003680.4(YARS1):c.458_469del (p.Val153_Val156del)
|
rs786200893
|
|
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834
|
|
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_004637.6(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_005391.5(PDK3):c.473G>A (p.Arg158His)
|
rs397515323
|
|
NM_005548.3(KARS1):c.314T>A (p.Leu105His)
|
rs267607194
|
|
NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs)
|
rs587776688
|
|
NM_006096.4(NDRG1):c.538-1G>A
|
rs11575976
|
|
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503
|
|
NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286
|
|
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)
|
rs3832558
|
|
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)
|
rs60261494
|
|
NM_006158.5(NEFL):c.281T>C (p.Leu94Pro)
|
rs62636505
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)
|
rs121913663
|
|
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)
|
rs58640772
|
|
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)
|
rs199422214
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_006329.4(FBLN5):c.986A>T (p.Asp329Val)
|
rs1172268284
|
|
NM_006329.4(FBLN5):c.992G>A (p.Arg331His)
|
rs774735234
|
|
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_007289.4(MME):c.1861T>C (p.Cys621Arg)
|
rs879253752
|
|
NM_007289.4(MME):c.439+2T>A
|
rs1057519024
|
|
NM_007289.4(MME):c.654+1G>A
|
rs1057519023
|
|
NM_007289.4(MME):c.661C>T (p.Gln221Ter)
|
rs879253751
|
|
NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)
|
rs104894345
|
|
NM_014845.6(FIG4):c.294del (p.Phe98fs)
|
rs1562648373
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014874.3:c.600_816del
|
|
|
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)
|
rs119103261
|
|
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del)
|
rs1478175861
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1392+2T>C
|
rs111723244
|
|
NM_014874.4(MFN2):c.205G>T (p.Val69Phe)
|
rs28940296
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.322G>A (p.Gly108Arg)
|
rs1569829573
|
|
NM_014874.4(MFN2):c.491C>T (p.Ala164Val)
|
rs1553142699
|
|
NM_014874.4(MFN2):c.493C>G (p.His165Asp)
|
rs119103262
|
|
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile)
|
rs119103266
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
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_015726.4(DCAF8):c.949C>T (p.Arg317Cys)
|
rs587777425
|
|
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)
|
rs121434404
|
|
NM_016156.6(MTMR2):c.1593+1G>A
|
rs1590970875
|
|
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)
|
rs1863269109
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_018082.6(POLR3B):c.1087G>A (p.Glu363Lys)
|
rs2136937347
|
|
NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)
|
rs2037218302
|
|
NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)
|
rs2037451945
|
|
NM_018082.6(POLR3B):c.3137G>A (p.Arg1046His)
|
rs2038648611
|
|
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)
|
rs606231237
|
|
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
|
rs1586803063
|
|
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.579+1G>A
|
rs864622501
|
|
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.719G>A (p.Cys240Tyr)
|
rs121908115
|
|
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu)
|
rs397515443
|
|
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)
|
rs121908112
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg)
|
rs202191898
|
|
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs)
|
rs397515454
|
|
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter)
|
rs397515455
|
|
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs)
|
rs876657411
|
|
NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs)
|
rs876657412
|
|
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021625.5(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_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)
|
rs1555373599
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
|
rs312262716
|
|
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)
|
rs863225440
|
|
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)
|
rs863225439
|
|
NM_030962.4(SBF2):c.1088_1296+646del
|
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)
|
rs120074137
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.4443+1G>C
|
rs1564872328
|
|
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs)
|
rs1599655206
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.385_394dup (p.Leu132fs)
|
rs1599656972
|
|
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)
|
rs104894706
|
|