NM_020631.6(PLEKHG5):c.1393-16C>G
|
rs747761762
|
0.02500
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
0.00108
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)
|
rs147869659
|
0.00084
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)
|
rs138218277
|
0.00064
|
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg)
|
rs147772705
|
0.00048
|
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp)
|
rs148468522
|
0.00048
|
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_004373.4(COX6A1):c.160A>G (p.Met54Val)
|
rs61739965
|
0.00046
|
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)
|
rs149873249
|
0.00032
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_014845.6(FIG4):c.2460-8A>G
|
rs201965891
|
0.00022
|
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)
|
rs757322355
|
0.00019
|
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726
|
0.00018
|
NM_004990.4(MARS1):c.1369-7A>C
|
rs377050640
|
0.00016
|
NM_002437.5(MPV17):c.461+2T>C
|
rs138199394
|
0.00015
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_002437.5(MPV17):c.186+2T>C
|
rs147952488
|
0.00012
|
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)
|
rs201358272
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)
|
rs199863083
|
0.00011
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)
|
rs763294661
|
0.00010
|
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met)
|
rs111724922
|
0.00009
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)
|
rs144305922
|
0.00008
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_006096.4(NDRG1):c.537+18C>T
|
rs779638529
|
0.00006
|
NM_021629.4(GNB4):c.204-4C>G
|
rs377746889
|
0.00006
|
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr)
|
rs1386270581
|
0.00006
|
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)
|
rs368827070
|
0.00006
|
NM_181882.3(PRX):c.4317C>T (p.Ser1439=)
|
rs372280596
|
0.00006
|
NM_002972.4(SBF1):c.4834G>A (p.Val1612Met)
|
rs370715026
|
0.00005
|
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)
|
rs140811185
|
0.00005
|
NM_002972.4(SBF1):c.1696G>T (p.Val566Leu)
|
rs374194474
|
0.00004
|
NM_005548.3(KARS1):c.382G>A (p.Val128Met)
|
rs374126791
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_021076.4(NEFH):c.2327C>G (p.Ser776Cys)
|
rs201520640
|
0.00004
|
NM_001005373.4(LRSAM1):c.1352C>T (p.Ala451Val)
|
rs751593173
|
0.00003
|
NM_001005373.4(LRSAM1):c.1498C>T (p.Leu500Phe)
|
rs749192098
|
0.00003
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)
|
rs121909721
|
0.00003
|
NM_002972.4(SBF1):c.2763A>G (p.Ala921=)
|
rs754332334
|
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_181882.3(PRX):c.2790G>C (p.Lys930Asn)
|
rs758614032
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_004990.4(MARS1):c.2447G>A (p.Arg816His)
|
rs150482634
|
0.00002
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser)
|
rs373198302
|
0.00002
|
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)
|
rs752593001
|
0.00002
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590
|
0.00001
|
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys)
|
rs1402143255
|
0.00001
|
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
|
rs768569356
|
0.00001
|
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu)
|
rs749060708
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-5A>G
|
rs774476953
|
0.00001
|
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
|
rs1001125376
|
0.00001
|
NM_001605.3(AARS1):c.1514C>T (p.Thr505Met)
|
rs755492122
|
0.00001
|
NM_001605.3(AARS1):c.2285A>G (p.Lys762Arg)
|
rs1224948634
|
0.00001
|
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)
|
rs530891983
|
0.00001
|
NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser)
|
rs746910953
|
0.00001
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)
|
rs121909723
|
0.00001
|
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)
|
rs267607261
|
0.00001
|
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)
|
rs121909724
|
0.00001
|
NM_002437.5(MPV17):c.370C>T (p.Gln124Ter)
|
rs863224074
|
0.00001
|
NM_002437.5(MPV17):c.375+2T>C
|
rs1054997754
|
0.00001
|
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)
|
rs763400903
|
0.00001
|
NM_002437.5(MPV17):c.71-1G>T
|
rs751134093
|
0.00001
|
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln)
|
rs746892773
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln)
|
rs766998571
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
NM_015271.5(TRIM2):c.818A>G (p.Gln273Arg)
|
rs1045971920
|
0.00001
|
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)
|
rs201369986
|
0.00001
|
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)
|
rs777908204
|
0.00001
|
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)
|
rs762546636
|
0.00001
|
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)
|
rs746542104
|
0.00001
|
NM_181882.3(PRX):c.1184C>T (p.Thr395Ile)
|
rs1273087776
|
0.00001
|
GRCh37/hg19 17p12(chr17:14063251-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15422557)
|
|
|
GRCh37/hg19 17p12(chr17:14105874-15611546)
|
|
|
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
|
|
|
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)
|
rs2092543877
|
|
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
|
rs760150310
|
|
NM_000188.3(HK1):c.1871dup (p.Ala625fs)
|
rs754451671
|
|
NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)
|
|
|
NM_000530.8(MPZ):c.*4T>G
|
rs1670223090
|
|
NM_000530.8(MPZ):c.234G>A (p.Ser78=)
|
rs368149365
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)
|
rs1653241392
|
|
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
|
rs2040817364
|
|
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile)
|
rs1602510214
|
|
NM_001365088.1(SLC12A6):c.316+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr)
|
rs2048038458
|
|
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
|
|
|
NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr)
|
rs763513667
|
|
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)
|
rs1554338262
|
|
NM_002180.3(IGHMBP2):c.1537+5G>A
|
rs1859419489
|
|
NM_002180.3(IGHMBP2):c.449+1G>A
|
rs797044802
|
|
NM_002437.5(MPV17):c.101C>G (p.Ser34Ter)
|
|
|
NM_002437.5(MPV17):c.135del (p.Glu45fs)
|
rs777604559
|
|
NM_002437.5(MPV17):c.139del (p.Gln47fs)
|
rs2148216335
|
|
NM_002437.5(MPV17):c.22C>T (p.Gln8Ter)
|
rs1679897519
|
|
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del)
|
rs267607263
|
|
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)
|
rs267607264
|
|
NM_002437.5(MPV17):c.280-1dup
|
rs766160589
|
|
NM_002437.5(MPV17):c.280-2del
|
|
|
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)
|
rs267607257
|
|
NM_002437.5(MPV17):c.328_332del (p.Gly109_Ala110insTer)
|
|
|
NM_002437.5(MPV17):c.354dup (p.Asn119fs)
|
|
|
NM_002437.5(MPV17):c.375+1G>A
|
|
|
NM_002437.5(MPV17):c.375+1G>T
|
|
|
NM_002437.5(MPV17):c.405C>A (p.Tyr135Ter)
|
rs774833271
|
|
NM_002437.5(MPV17):c.408T>A (p.Tyr136Ter)
|
|
|
NM_002437.5(MPV17):c.451dup (p.Leu151fs)
|
rs267607267
|
|
NM_002437.5(MPV17):c.461+1G>T
|
|
|
NM_002437.5(MPV17):c.461G>T (p.Arg154Met)
|
rs886044113
|
|
NM_002437.5(MPV17):c.462-2A>C
|
|
|
NM_002972.4(SBF1):c.161G>A (p.Trp54Ter)
|
rs1556436855
|
|
NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg)
|
rs1180199698
|
|
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu)
|
rs1836501449
|
|
NM_003680.4(YARS1):c.130A>G (p.Thr44Ala)
|
rs1638571973
|
|
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783
|
|
NM_006096.4(NDRG1):c.944-1G>T
|
rs1588216753
|
|
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser)
|
rs886043551
|
|
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter)
|
rs797045039
|
|
NM_007126.5(VCP):c.961G>A (p.Glu321Lys)
|
|
|
NM_014845.6(FIG4):c.394A>G (p.Met132Val)
|
|
|
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys)
|
rs2100849130
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
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.515A>G (p.Gln172Arg)
|
rs1638957491
|
|
NM_014874.4(MFN2):c.667T>C (p.Phe223Leu)
|
rs1639045962
|
|
NM_015726.4(DCAF8):c.1727C>T (p.Ser576Phe)
|
|
|
NM_016156.6(MTMR2):c.1593+1G>A
|
rs1590970875
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)
|
rs1644549269
|
|
NM_021076.4(NEFH):c.25G>C (p.Ala9Pro)
|
rs2062994833
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)
|
rs147895061
|
|
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=)
|
rs1753764451
|
|
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=)
|
rs1434453673
|
|
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)
|
rs1754425628
|
|
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)
|
rs1754317705
|
|
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)
|
rs773225085
|
|
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr)
|
rs1228676321
|
|
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys)
|
rs1334739235
|
|
NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)
|
rs2079426412
|
|
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)
|
rs2079403438
|
|