NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val)
|
rs141368249
|
0.00051
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00039
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
0.00019
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val)
|
rs140220443
|
0.00013
|
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg)
|
rs200595164
|
0.00011
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln)
|
rs138187021
|
0.00008
|
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys)
|
rs372419484
|
0.00008
|
NM_001605.3(AARS1):c.1878C>T (p.Gly626=)
|
rs752673097
|
0.00006
|
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)
|
rs147350002
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)
|
rs146468976
|
0.00006
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_181882.3(PRX):c.848T>G (p.Val283Gly)
|
rs776556523
|
0.00005
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
0.00004
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn)
|
rs781528826
|
0.00003
|
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)
|
rs774682373
|
0.00002
|
NM_003680.4(YARS1):c.1042+3A>C
|
rs772446297
|
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_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)
|
rs768303307
|
0.00002
|
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His)
|
rs769919130
|
0.00002
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000530.8(MPZ):c.662C>T (p.Ala221Val)
|
rs1040557288
|
0.00001
|
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly)
|
rs1370510062
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00001
|
NM_001605.3(AARS1):c.726G>A (p.Met242Ile)
|
rs780360628
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985
|
0.00001
|
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
|
rs1282857383
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_007289.4(MME):c.1511A>T (p.Glu504Val)
|
rs201239248
|
0.00001
|
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)
|
rs767928746
|
0.00001
|
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser)
|
rs924785682
|
0.00001
|
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
|
rs552937585
|
0.00001
|
NM_014845.6(FIG4):c.80T>C (p.Val27Ala)
|
rs769687105
|
0.00001
|
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu)
|
rs764374251
|
0.00001
|
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
|
rs1016086446
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val)
|
rs200802048
|
0.00001
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
rs910994587
|
0.00001
|
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn)
|
rs757630049
|
0.00001
|
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu)
|
rs373980330
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_025137.4(SPG11):c.2612dup (p.Ser871fs)
|
rs750101275
|
0.00001
|
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228
|
0.00001
|
NM_030973.4(MED25):c.751G>A (p.Ala251Thr)
|
rs775622130
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
|
|
|
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
|
|
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816
|
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
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.1076G>A (p.Arg359Gln)
|
rs281865136
|
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137
|
|
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)
|
rs281865138
|
|
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)
|
rs104894160
|
|
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139
|
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133
|
|
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)
|
rs281865122
|
|
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123
|
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)
|
rs267607244
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128
|
|
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129
|
|
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131
|
|
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)
|
rs1555717200
|
|
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val)
|
rs1836186573
|
|
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)
|
rs961918637
|
|
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
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.385G>A (p.Ala129Thr)
|
rs797044847
|
|
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg)
|
rs797044848
|
|
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110
|
|
NM_001358263.1(HK1):c.-290G>C
|
rs797044964
|
|
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.1736G>A (p.Arg579His)
|
rs281865063
|
|
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile)
|
rs281865064
|
|
NM_001370298.3(FGD4):c.2173-2A>G
|
rs281865065
|
|
NM_001376.5(DYNC1H1):c.11989C>T (p.Arg3997Trp)
|
rs1399236395
|
|
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)
|
rs750566844
|
|
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser)
|
rs1555408829
|
|
NM_001376.5(DYNC1H1):c.3504del (p.Phe1169fs)
|
rs2141281091
|
|
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala)
|
rs2048178354
|
|
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys)
|
rs879253881
|
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738
|
|
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
|
rs768456339
|
|
NM_002047.2(GARS1):c.-45C>G
|
rs903029869
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644
|
|
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643
|
|
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)
|
rs137852648
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504
|
|
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)
|
rs774833271
|
|
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731
|
|
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732
|
|
NM_003172.4(SURF1):c.588+1G>A
|
rs1219762677
|
|
NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn)
|
rs999882329
|
|
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
|
rs1856819839
|
|
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro)
|
rs281865140
|
|
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)
|
rs60261494
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538
|
|
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs)
|
rs1954727878
|
|
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro)
|
rs1553145023
|
|
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys)
|
rs2149528038
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg)
|
rs1555205050
|
|
NM_021625.5(TRPV4):c.617G>A (p.Arg206His)
|
rs373108373
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.28del (p.Glu10fs)
|
rs80338918
|
|
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)
|
rs80338936
|
|
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala)
|
rs2083030697
|
|
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)
|
rs2140971559
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln)
|
rs879367729
|
|
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro)
|
rs765644977
|
|
NM_170707.4(LMNA):c.1380+1G>A
|
rs267607552
|
|
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
|
rs1572366516
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)
|
rs267607609
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.2098del (p.Ala700fs)
|
rs281865062
|
|
NM_181882.3(PRX):c.247del (p.Leu83fs)
|
rs281865061
|
|