|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
|
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)
|
rs1800866
|
0.17661
|
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
|
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)
|
rs17560
|
0.00410
|
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
|
NM_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
|
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884
|
0.00003
|
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
|
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp)
|
rs1445290655
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
|
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly)
|
rs1573152106
|
0.00001
|
|
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)
|
rs2149090269
|
|
|
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)
|
rs2149095964
|
|
|
NM_000052.7(ATP7A):c.2916+3A>T
|
rs2149100212
|
|
|
NM_000052.7(ATP7A):c.3659-1G>A
|
rs2149110457
|
|
|
NM_000052.7(ATP7A):c.3802-1G>A
|
rs398123135
|
|
|
NM_000052.7(ATP7A):c.437del (p.Leu146fs)
|
rs2149082699
|
|
|
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
|
|
|
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)
|
rs1424014997
|
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
|
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)
|
rs1246937494
|
|
|
NM_001376.5(DYNC1H1):c.3157-2A>T
|
rs2141280750
|
|
|
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu)
|
rs2141280974
|
|
|
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)
|
rs727505393
|
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
|
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro)
|
rs713993043
|
|
|
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)
|
rs2152584603
|
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
|
NM_002180.3(IGHMBP2):c.1632+3del
|
rs2154008712
|
|
|
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)
|
rs74315431
|
|
|
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)
|
rs1555509609
|
|
|
NM_004960.4(FUS):c.1542-1G>T
|
rs1596914113
|
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
|
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)
|
rs1574867228
|
|
|
NM_014845.6(FIG4):c.1150del (p.Arg384fs)
|
rs1583695322
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
|
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)
|
rs2131463306
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
|
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])
|
rs59890097
|
|
|
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
|
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)
|
rs368751524
|
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|