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_001605.3(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726
|
0.00018
|
NM_004990.4(MARS1):c.1369-7A>C
|
rs377050640
|
0.00016
|
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_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377
|
0.00006
|
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_004990.4(MARS1):c.2447G>A (p.Arg816His)
|
rs150482634
|
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_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.920C>T (p.Ser307Phe)
|
rs777908204
|
0.00001
|
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)
|
rs2040817364
|
|
NM_001376.5(DYNC1H1):c.3188T>C (p.Met1063Thr)
|
rs2048038458
|
|
NM_001605.3(AARS1):c.1444G>T (p.Asp482Tyr)
|
rs763513667
|
|
NM_002180.3(IGHMBP2):c.1537+5G>A
|
rs1859419489
|
|
NM_006158.5(NEFL):c.22C>T (p.Pro8Ser)
|
rs886043551
|
|
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.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_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg)
|
rs773225085
|
|