NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
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_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
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_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_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
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_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_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_004990.4(MARS1):c.2447G>A (p.Arg816His)
|
rs150482634
|
0.00002
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
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_014874.4(MFN2):c.1253G>A (p.Arg418Gln)
|
rs766998571
|
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_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_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_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_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_021076.4(NEFH):c.25G>C (p.Ala9Pro)
|
rs2062994833
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)
|
rs773225085
|
|