NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)
|
rs2297881
|
0.03425
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
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_004990.4(MARS1):c.2398C>A (p.Pro800Thr)
|
rs781249411
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
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_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
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.313C>A (p.Pro105Thr)
|
rs121913609
|
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_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718
|
0.00001
|
NM_007289.4(MME):c.1265C>A (p.Ala422Asp)
|
rs777476150
|
0.00001
|
NM_007289.4(MME):c.655-2A>G
|
rs765591205
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
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_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
|
|
|
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.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)
|
rs121913606
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
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_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_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)
|
rs121908160
|
|
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_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_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_006158.5(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286
|
|
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.48_60dup (p.Thr21fs)
|
rs58640772
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585
|
|
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.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007289.4(MME):c.654+1G>A
|
rs1057519023
|
|
NM_007289.4(MME):c.661C>T (p.Gln221Ter)
|
rs879253751
|
|
NM_007289.4(MME):c.71G>A (p.Trp24Ter)
|
rs886039755
|
|
NM_014365.3(HSPB8):c.423G>T (p.Lys141Asn)
|
rs104894345
|
|
NM_014874.4(MFN2):c.1071G>C (p.Lys357Asn)
|
rs119103261
|
|
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.493C>G (p.His165Asp)
|
rs119103262
|
|
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295
|
|
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_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)
|
rs606231237
|
|
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.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_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_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
|
|