NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
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_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246
|
0.00014
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
|
rs587781250
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
|
rs1427063795
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)
|
rs747130246
|
0.00001
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
|
rs1210729449
|
0.00001
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821
|
|
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
rs1602349264
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
rs1602349692
|
|
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
|
rs1602349779
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
rs1602349940
|
|
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
|
rs1602349962
|
|
NM_000166.6(GJB1):c.800del (p.Pro267fs)
|
rs1602350003
|
|
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
rs1602350029
|
|
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
|
rs1602350062
|
|
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)
|
rs1555936989
|
|
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180
|
|
NM_000304.4(PMP22):c.179-2A>G
|
rs1597608225
|
|
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
|
rs11545341
|
|
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028
|
|
NM_000304.4(PMP22):c.433del (p.Leu145fs)
|
rs1567698872
|
|
NM_000304.4(PMP22):c.76del (p.Ser26fs)
|
rs1597635540
|
|
NM_000371.4(TTR):c.148G>C (p.Val50Leu)
|
rs28933979
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)
|
rs760730366
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
|
rs1571819946
|
|
NM_000530.8(MPZ):c.200_201del (p.Arg67fs)
|
rs1670284480
|
|
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
|
rs1571819906
|
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601
|
|
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707
|
|
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)
|
rs1553259703
|
|
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
rs1571819182
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000530.8(MPZ):c.560del (p.Gln187fs)
|
rs1571817966
|
|
NM_000530.8(MPZ):c.574_575del (p.Arg192fs)
|
rs1571817911
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026
|
|
NM_000530.8(MPZ):c.68-5_71del
|
rs1571820401
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
|
rs769118115
|
|
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
|
rs1583964560
|
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001540.5(HSPB1):c.505del (p.Met169fs)
|
rs1583966508
|
|
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621
|
|
NM_002047.4(GARS1):c.1031+1G>A
|
rs1554338272
|
|
NM_002047.4(GARS1):c.1809+1G>A
|
rs1554340340
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_006096.4(NDRG1):c.681dup (p.Ile228fs)
|
rs879254290
|
|
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
|
rs1803032912
|
|
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.23C>A (p.Pro8Gln)
|
rs61491953
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)
|
rs119482082
|
|
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
|
rs1777638564
|
|
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
|
rs767193357
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014874.4(MFN2):c.1392+1G>A
|
rs1569861708
|
|
NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)
|
rs1569871830
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
|
rs778547659
|
|
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)
|
rs1474390668
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.928del (p.Arg310fs)
|
rs1586807541
|
|
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_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
|
rs1754094644
|
|
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.688del (p.Val230fs)
|
rs775740308
|
|
NM_024577.4(SH3TC2):c.957del (p.Phe320fs)
|
rs1554122541
|
|
NM_181882.3(PRX):c.1173del (p.Arg392fs)
|
rs757771239
|
|
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Glu40_Gly41insGluAlaAlaArg)
|
rs2079512784
|
|
NM_181882.3(PRX):c.124_125dup (p.Phe43fs)
|
rs1599662837
|
|
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
|
rs2079512634
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|