NM_006158.5(NEFL):c.1414del (p.Ser472fs)
|
rs780764641
|
0.01449
|
NM_002047.2(GARS1):c.-85C>A
|
rs777045330
|
0.00243
|
NM_002047.4(GARS1):c.*145C>A
|
rs904772533
|
0.00152
|
NM_002047.2(GARS1):c.-237A>C
|
rs540431164
|
0.00053
|
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)
|
rs146146070
|
0.00044
|
NM_002047.2(GARS1):c.-80C>T
|
rs886062270
|
0.00014
|
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)
|
rs773393717
|
0.00014
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802
|
0.00006
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_181882.3(PRX):c.2603A>G (p.Gln868Arg)
|
rs1340773932
|
0.00003
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)
|
rs777182592
|
0.00002
|
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe)
|
rs139958177
|
0.00002
|
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val)
|
rs147444364
|
0.00001
|
NM_001136472.2(LITAF):c.*138G>C
|
rs898867952
|
0.00001
|
NM_002047.2(GARS1):c.-166T>G
|
rs1008764831
|
0.00001
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
rs779184435
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NM_020631.6(PLEKHG5):c.2249+4C>T
|
rs751575330
|
0.00001
|
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)
|
rs770149544
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_181882.3(PRX):c.2579A>C (p.Asp860Ala)
|
rs759471716
|
0.00001
|
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln)
|
rs766830490
|
0.00001
|
NC_000011.10:g.68906238_68929183del
|
|
|
NM_001136472.2(LITAF):c.*116C>A
|
rs1597324647
|
|
NM_001136472.2(LITAF):c.331_332dup (p.Gly112fs)
|
rs1597329269
|
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503
|
|
NM_001374736.1(DST):c.3061-2A>T
|
rs1454639285
|
|
NM_001376.5(DYNC1H1):c.149C>A (p.Ala50Asp)
|
rs1350501046
|
|
NM_001376.5(DYNC1H1):c.248C>T (p.Thr83Met)
|
rs1400787976
|
|
NM_001376.5(DYNC1H1):c.3574A>C (p.Asn1192His)
|
rs1265590172
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954
|
|
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly)
|
rs1597443484
|
|
NM_002047.2(GARS1):c.-180G>C
|
rs919928419
|
|
NM_002047.2(GARS1):c.-195A>T
|
rs940014942
|
|
NM_002047.2(GARS1):c.-197G>C
|
rs886062269
|
|
NM_002047.2(GARS1):c.-59C>T
|
rs886062271
|
|
NM_002047.2(GARS1):c.-64C>T
|
rs932663016
|
|
NM_002047.2(GARS1):c.-69T>G
|
rs527307703
|
|
NM_002047.4(GARS1):c.*50_*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.*51del
|
rs70983380
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
rs1782883200
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
rs1782884805
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1528A>C (p.Lys510Gln)
|
rs1584044584
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
rs1783175611
|
|
NM_002047.4(GARS1):c.547C>T (p.Leu183Phe)
|
rs1584024072
|
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1235+3A>G
|
rs1369278472
|
|
NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro)
|
rs1555247218
|
|
NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys)
|
rs1594451320
|
|
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)
|
rs571142182
|
|
NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro)
|
rs1594451536
|
|
NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs)
|
rs1594454167
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1743A>C (p.Arg581Ser)
|
rs1594454382
|
|
NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile)
|
rs1594454388
|
|
NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys)
|
rs56052951
|
|
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)
|
rs1465803265
|
|
NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs)
|
rs1594455576
|
|
NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter)
|
rs866417417
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro)
|
rs1594412120
|
|
NM_002180.3(IGHMBP2):c.616C>T (p.Gln206Ter)
|
rs1594422624
|
|
NM_002180.3(IGHMBP2):c.647C>T (p.Pro216Leu)
|
rs1594422676
|
|
NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala)
|
rs1594422709
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg)
|
rs1594427373
|
|
NM_002180.3(IGHMBP2):c.752T>C (p.Leu251Pro)
|
rs1594427489
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile)
|
rs1595676517
|
|
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu)
|
rs1172497555
|
|
NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs)
|
rs1554031715
|
|
NM_004960.3(FUS):c.*2201dup
|
rs1555510151
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)
|
rs121434378
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_020631.5(PLEKHG5):c.*750delC
|
rs886046493
|
|
NM_020631.5(PLEKHG5):c.*751delT
|
rs372197062
|
|
NM_020631.5(PLEKHG5):c.*978dup
|
rs553519753
|
|
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del)
|
rs536097668
|
|
NM_020631.6(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg)
|
rs763302555
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln)
|
rs551953142
|
|
NM_181882.3(PRX):c.2612T>C (p.Val871Ala)
|
rs201389706
|
|
NM_181882.3(PRX):c.862G>C (p.Val288Leu)
|
rs568618329
|
|