ClinVar Miner

List of variants reported as pathogenic for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 926
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) rs1554066397 0.00571
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser) rs139382018 0.00058
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly) rs140547520 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_003384.3(VRK1):c.1160G>A (p.Arg387His) rs1420939606 0.00021
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser) rs397518454 0.00009
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly) rs778264897 0.00007
NM_006736.6(DNAJB2):c.175+2T>A rs562669797 0.00007
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) rs387906712 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg) rs142083484 0.00005
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667 0.00004
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) rs140376902 0.00004
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter) rs1449250083 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr) rs768554955 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys) rs771621178 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_002180.3(IGHMBP2):c.2784+1G>T rs797044803 0.00002
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) rs139497493 0.00002
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006736.6(DNAJB2):c.620-1G>A rs764813110 0.00002
NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr) rs753862645 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln) rs758357594 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000344.4(SMN1):c.840C>T (p.Phe280=) rs1164325688 0.00001
NM_000454.5(SOD1):c.269C>T (p.Ala90Val) rs1280042397 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.358-10T>G rs1197141604 0.00001
NM_000454.5(SOD1):c.358-11A>G rs369600566 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr) rs954539468 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002180.3(IGHMBP2):c.1061-2A>G rs1424522130 0.00001
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr) rs760811074 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669 0.00001
NM_002180.3(IGHMBP2):c.711+1G>C rs774079947 0.00001
NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764 0.00001
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs) rs892468166 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.6del (p.Arg3fs) rs780789145 0.00001
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer) rs752086581 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln) rs1391182750 0.00001
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) rs771966860 0.00001
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) rs886039782 0.00001
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter) rs1185406298 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004960.4(FUS):c.616G>A (p.Gly206Ser) rs387906628 0.00001
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) rs397514262 0.00001
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) rs397514263 0.00001
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr) rs368743618 0.00001
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys) rs730880025 0.00001
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His) rs730880026 0.00001
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter) rs1182614290 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) rs80356732 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter) rs1328949478 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) rs142030898 0.00001
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys) rs748112833 0.00001
NM_013254.4(TBK1):c.421dup (p.Ile141fs) rs1565814492 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) rs387907195 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter) rs1443592761 0.00001
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs) rs1266507622 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) rs376815626 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780 0.00001
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly) rs1247392012 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867 0.00001
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter) rs771847002 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
GRCh37/hg19 5q13.2(chr5:70247768-70247821)
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NC_000005.10:g.(?_70924941)_(70966375_?)del
NC_000005.10:g.(?_70951912)_(70951994_?)del
NC_000005.10:g.(?_70951921)_(70952011_?)del
NC_000005.10:g.(?_70951931)_(70952001_?)del
NC_000005.10:g.(?_70951941)_(70951991_?)del
NC_000005.10:g.70946066_70946176del rs1554082110
NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]
NC_000008.11:g.(?_18051554)_(18107050_?)del
NC_000009.11:g.(?_135201691)_(135210134_?)del
NC_000009.12:g.27573529_27573534GGCCCC[60_?]
NC_000010.10:g.(?_12833157)_(13178866_?)del
NC_000010.10:g.(?_13151123)_(13158360_?)del
NC_000010.10:g.(?_13151123)_(13178866_?)del
NC_000010.10:g.(?_13152254)_(13161060_?)del
NC_000010.10:g.(?_13154433)_(13161060_?)del
NC_000010.10:g.(?_13158247)_(13158360_?)del
NC_000010.10:g.(?_13164365)_(13168059_?)del
NC_000010.11:g.(?_13109103)_(13136886_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13109123)_(13183100_?)del
NC_000010.11:g.(?_13116257)_(13116350_?)del
NC_000010.11:g.13122383AG[1] rs757559365
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
NC_000011.9:g.(?_68671411)_(68707209_?)del
NC_000011.9:g.(?_68671421)_(68679091_?)del
NC_000011.9:g.(?_68673517)_(68682511_?)del
NC_000011.9:g.(?_68682271)_(68682511_?)del
NC_000012.11:g.(?_64849651)_(64854129_?)del
NC_000012.11:g.(?_64875602)_(64879817_?)del
NC_000014.8:g.(?_97299809)_(97327092_?)del
NC_000014.8:g.(?_97319158)_(97322933_?)del
NC_000014.8:g.(?_97326874)_(97327092_?)del
NC_000014.9:g.(?_96810669)_(96860745_?)del
NC_000014.9:g.(?_96846075)_(96847364_?)del
NC_000014.9:g.(?_96846085)_(96847354_?)del
NC_000014.9:g.(?_96856120)_(96860745_?)del
NC_000023.10:g.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77300947)_(77302067_?)del
NG_008691.1:g.(32498_32055)_(33073_?)del
NG_031977.1:g.(5321_5338)ins(60_?) rs143561967
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) rs2077660153
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) rs2077859082
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) rs2078061940
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) rs2149083118
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000344.3:c.*3+32_*3+33insSVA
NM_000344.4(SMN1):c.131A>T (p.Asp44Val) rs104893931
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.4(SMN1):c.291del (p.Lys97fs) rs2112806309
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe) rs104893933
NM_000344.4(SMN1):c.388T>C (p.Tyr130His) rs397514518
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys) rs397514517
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) rs77668214
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu) rs104893934
NM_000344.4(SMN1):c.439_443del (p.Glu147fs) rs75991011
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter) rs1580886973
NM_000344.4(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.4(SMN1):c.549del (p.Lys184fs) rs2112806512
NM_000344.4(SMN1):c.724-2A>G rs1561500842
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del)
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly) rs104893932
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.4(SMN1):c.82-2548_723+515del
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.4(SMN1):c.834+6T>G rs2112814388
NM_000344.4(SMN1):c.835-1G>A rs1217001154
NM_000344.4(SMN1):c.835-21_*3+17del rs1561503058
NM_000344.4(SMN1):c.835-2A>G rs141760116
NM_000344.4(SMN1):c.835-8_835-5delinsG
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
NM_000344.4(SMN1):c.836G>T (p.Gly279Val) rs76163360
NM_000344.4(SMN1):c.862dup (p.Arg288fs) rs1580895068
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn) rs104893930
NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys) rs121912457
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
NM_000454.5(SOD1):c.19T>A (p.Cys7Ser) rs1312702973
NM_000454.5(SOD1):c.20G>T (p.Cys7Phe) rs121912448
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
NM_000454.5(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.5(SOD1):c.253T>G (p.Leu85Val) rs121912452
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.272A>T (p.Asp91Val)
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp) rs121912438
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
NM_000454.5(SOD1):c.304G>C (p.Asp102His) rs1568810715
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) rs1378590183
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe) rs121912440
NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.358-304= rs1555836889
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly) rs1568811366
NM_000454.5(SOD1):c.374A>T (p.Asp125Val) rs1568811366
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) rs121912454
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) rs121912451
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys) rs1804449
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) rs1482760341
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) rs1555836950
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr) rs121912449
NM_000454.5(SOD1):c.49G>A (p.Gly17Ser) rs121912453
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000454.5(SOD1):c.62T>G (p.Phe21Cys) rs1555836169
NM_000454.5(SOD1):c.64G>A (p.Glu22Lys) rs121912450
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) rs1169198442
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) rs398123032
NM_001003800.2(BICD2):c.1523A>C (p.Lys508Thr) rs398123031
NM_001003800.2(BICD2):c.1604C>T (p.Ala535Val) rs1587668798
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001003800.2(BICD2):c.1922T>A (p.Leu641Gln)
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys) rs1131691347
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) rs398123029
NM_001003800.2(BICD2):c.565A>T (p.Ile189Phe) rs1587671674
NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg) rs1564061982
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) rs267606928
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
NM_001008212.2(OPTN):c.1217del (p.Thr406fs) rs1833451208
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) rs774772178
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) rs267606929
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
NM_001008212.2(OPTN):c.166+349_370-945del
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) rs778911925
NM_001039550.2(DNAJB2):c.0_229+18del
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001097577.3(ANG):c.107A>T (p.Gln36Leu) rs121909535
NM_001097577.3(ANG):c.121A>G (p.Lys41Glu) rs121909537
NM_001097577.3(ANG):c.164G>A (p.Arg55Lys) rs121909538
NM_001097577.3(ANG):c.189C>G (p.Cys63Trp) rs121909539
NM_001097577.3(ANG):c.191A>T (p.Lys64Ile) rs121909540
NM_001097577.3(ANG):c.409G>A (p.Val137Ile) rs121909544
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)
NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001164730.2(REEP1):c.40dup (p.Arg14fs) rs2104562914
NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]
NM_001371279.1(REEP1):c.304-2A>G rs387907242
NM_001376.5(DYNC1H1):c.1750A>C (p.Ile584Leu) rs387906741
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.2011A>G (p.Lys671Glu) rs387906742
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.2909A>G (p.Tyr970Cys) rs387906743
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.3624G>T (p.Trp1208Cys)
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu) rs713993043
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) rs1971438573
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.295C>A (p.Leu99Met) rs121909113
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.545C>T (p.Pro182Leu) rs28937569
NM_001540.5(HSPB1):c.560C>T (p.Ser187Leu) rs774585320
NM_001761.3(CCNF):c.585T>G (p.Ser195Arg) rs1371569927
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002047.4(GARS1):c.979G>A (p.Gly327Arg) rs1584034430
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002180.3(IGHMBP2):c.1082del (p.Leu361fs)
NM_002180.3(IGHMBP2):c.1107C>G (p.Phe369Leu) rs137852670
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.1214_1223dup (p.Val409fs)
NM_002180.3(IGHMBP2):c.1218del (p.Thr407fs) rs1594445698
NM_002180.3(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs) rs780692442
NM_002180.3(IGHMBP2):c.1230_1231del (p.His411fs)
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
NM_002180.3(IGHMBP2):c.1305_1350del (p.Arg436fs) rs777570288
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) rs879253865
NM_002180.3(IGHMBP2):c.1354del (p.Ala452fs)
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs)
NM_002180.3(IGHMBP2):c.1477A>G (p.Thr493Ala) rs2154008651
NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter) rs556292818
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del) rs1594453111
NM_002180.3(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.3(IGHMBP2):c.1670del (p.Pro557fs)
NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs) rs1311146809
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.1730T>G (p.Leu577Arg) rs1483165002
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1868dup (p.Leu623fs)
NM_002180.3(IGHMBP2):c.1876del (p.Leu626fs)
NM_002180.3(IGHMBP2):c.1919_1920dup (p.Glu641fs)
NM_002180.3(IGHMBP2):c.1969dup (p.Gln657fs)
NM_002180.3(IGHMBP2):c.211C>T (p.Arg71Ter) rs773543257
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter) rs755468547
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) rs1189538200
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.3(IGHMBP2):c.2534del (p.Gln845fs)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.3(IGHMBP2):c.2567C>A (p.Ser856Ter)
NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.3(IGHMBP2):c.2601_2604del (p.Lys868fs)
NM_002180.3(IGHMBP2):c.2611+1G>A rs786205090
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs) rs2154009273
NM_002180.3(IGHMBP2):c.280_286del (p.Ala94fs)
NM_002180.3(IGHMBP2):c.2827A>T (p.Arg943Ter)
NM_002180.3(IGHMBP2):c.2848del (p.Leu950fs)
NM_002180.3(IGHMBP2):c.2882_2885dup (p.Pro963fs)
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) rs1131691657
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.317_318insA (p.Thr107fs)
NM_002180.3(IGHMBP2):c.373C>T (p.Gln125Ter) rs1015531394
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
NM_002180.3(IGHMBP2):c.449+1G>A rs797044802
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.467del (p.Lys156fs) rs2154006724
NM_002180.3(IGHMBP2):c.496_499del (p.Ser165_Leu166insTer)
NM_002180.3(IGHMBP2):c.586C>T (p.Gln196Ter)
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.653del (p.Thr218fs)
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706
NM_002180.3(IGHMBP2):c.673del (p.Val225fs) rs1858438320
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.3(IGHMBP2):c.688C>T (p.Gln230Ter)
NM_002180.3(IGHMBP2):c.696_700del (p.Lys233fs) rs2154006948
NM_002180.3(IGHMBP2):c.711+1G>A
NM_002180.3(IGHMBP2):c.763_767del (p.Leu255fs) rs2154007211
NM_002180.3(IGHMBP2):c.780del (p.Gln260fs) rs1594427564
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.3(IGHMBP2):c.797del (p.Gly266fs)
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.3(IGHMBP2):c.891del (p.Lys298fs)
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter) rs863224880
NM_002180.3(IGHMBP2):c.948_949del (p.Lys316_Ser317insTer)
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_003384.3(VRK1):c.103_104del (p.Lys35fs) rs2139748811
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs) rs2139845849
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter) rs2139748841
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs) rs1889019962
NM_003384.3(VRK1):c.1135_1136del (p.Gln379fs) rs1889019962
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
NM_003384.3(VRK1):c.1159+1G>A rs774877872
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter) rs1887100431
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
NM_003384.3(VRK1):c.160+1del
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.222del (p.Ser75fs) rs2139779014
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
NM_003384.3(VRK1):c.362_365del (p.Lys121fs) rs772146380
NM_003384.3(VRK1):c.387dup (p.Ile130fs) rs2139795550
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer) rs2139796429
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter) rs2139801958
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter) rs1200170208
NM_003384.3(VRK1):c.779del (p.Pro260fs)
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter) rs2139804073
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
NM_003384.3(VRK1):c.881del (p.Asn294fs)
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.897del (p.Ile299fs) rs2139814687
NM_003384.3(VRK1):c.913dup (p.Thr305fs) rs2139814734
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) rs765610848
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs) rs1758558921
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter) rs1254158201
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) rs1247551175
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter) rs1425863340
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
NM_003900.5(SQSTM1):c.301+1G>T rs2113485289
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
NM_003900.5(SQSTM1):c.415del (p.Arg139fs) rs2113487920
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) rs1331685476
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
NM_003900.5(SQSTM1):c.810del (p.Val271fs) rs1758316662
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs) rs1273214757
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) rs121909342
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg) rs121909342
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.279+1G>A rs1393363759
NM_004082.5(DCTN1):c.279+1G>C rs1393363759
NM_004082.5(DCTN1):c.279+1G>T rs1393363759
NM_004082.5(DCTN1):c.279+2T>C
NM_004082.5(DCTN1):c.626dup (p.Leu210fs)
NM_004184.4(WARS1):c.413T>A (p.Phe138Tyr) rs1895599490
NM_004184.4(WARS1):c.770A>G (p.His257Arg) rs770003315
NM_004184.4(WARS1):c.941A>G (p.Asp314Gly) rs1894240526
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile) rs281875284
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004960.4(FUS):c.1391_1392dup (p.Gly465fs) rs2144138894
NM_004960.4(FUS):c.1394-1G>T rs2079347087
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004960.4(FUS):c.1449_1488del (p.Tyr484fs)
NM_004960.4(FUS):c.1500dup (p.Gly501fs) rs2144140268
NM_004960.4(FUS):c.1509_1510del (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1509_1510dup (p.Gly504fs) rs1596912983
NM_004960.4(FUS):c.1509dup (p.Gly504fs) rs2079350332
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1531dup (p.Met511fs)
NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)
NM_004960.4(FUS):c.1541+1G>A rs2079351113
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys) rs121909669
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs) rs2144142389
NM_004960.4(FUS):c.1555C>T (p.Gln519Ter) rs1567479067
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) rs121909671
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys) rs1228194239
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly) rs387907264
NM_005022.4(PFN1):c.341T>C (p.Met114Thr) rs387907265
NM_005022.4(PFN1):c.353G>T (p.Gly118Val) rs387907266
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
NM_005866.4(SIGMAR1):c.13del (p.Val5fs) rs1564096761
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) rs1820936580
NM_005866.4(SIGMAR1):c.151+1G>T rs796065352
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) rs747285235
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter) rs1564096221
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) rs780136067
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)
NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs)
NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter) rs1242817438
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter) rs730880027
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro) rs730880029
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)
NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del) rs2118840030
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser) rs879254294
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe) rs1554716504
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala) rs1844420892
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs) rs2125081805
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter) rs2125082259
NM_006736.6(DNAJB2):c.229+1G>A rs730882139
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) rs1951895452
NM_007046.4(EMILIN1):c.748C>T (p.Arg250Cys)
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) rs387906790
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.463C>A (p.Arg155Ser) rs121909330
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.464G>C (p.Arg155Pro) rs121909329
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
NM_007126.5(VCP):c.469G>A (p.Gly157Arg) rs1554668814
NM_007126.5(VCP):c.472A>G (p.Met158Val) rs1554668813
NM_007126.5(VCP):c.475C>A (p.Arg159Ser) rs387906789
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) rs387906789
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) rs121909334
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg) rs80356731
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu) rs267607102
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala) rs80356721
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys) rs80356727
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_013254.4(TBK1):c.1234del (p.Ala412fs)
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer) rs2040816609
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter) rs769588220
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter) rs2136079548
NM_013254.4(TBK1):c.1340+1G>A rs767898276
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)
NM_013254.4(TBK1):c.1382dup (p.Thr462fs) rs1178717934
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs)
NM_013254.4(TBK1):c.1740del (p.Glu580fs) rs2136087722
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs) rs2040932099
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs) rs2136088227
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
NM_013254.4(TBK1):c.1917del (p.Asp639fs)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter) rs2136088420
NM_013254.4(TBK1):c.1956del (p.Asn652fs)
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs) rs2136088934
NM_013254.4(TBK1):c.2138+2T>C rs876657406
NM_013254.4(TBK1):c.300_309del (p.Ser102fs)
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)
NM_013254.4(TBK1):c.519del (p.Tyr174fs)
NM_013254.4(TBK1):c.701+1G>A rs1592362719
NM_013254.4(TBK1):c.701+2T>G
NM_013254.4(TBK1):c.722del (p.Lys241fs)
NM_013254.4(TBK1):c.72dup (p.Arg25fs) rs1279619378
NM_013254.4(TBK1):c.738_739del (p.Ser247fs)
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)
NM_013254.4(TBK1):c.86dup (p.Lys30fs) rs1592350883
NM_013254.4(TBK1):c.87G>A (p.Lys29=) rs1592350887
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
NM_013254.4(TBK1):c.958del (p.Thr320fs) rs755950225
NM_013437.5:c.-102CGG[(90_?)]
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) rs387906710
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) rs387906709
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr) rs387906711
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) rs1360902821
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>C rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.3(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014845.6(FIG4):c.1049C>T (p.Ala350Val)
NM_014845.6(FIG4):c.1150del (p.Arg384fs) rs1583695322
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro) rs2131461009
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter) rs2131440608
NM_015046.7(SETX):c.387_388+2del
NM_015046.7(SETX):c.4679dup (p.Asn1560fs) rs746973259
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
NM_015046.7(SETX):c.5019del (p.Val1674fs)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter) rs1844047388
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_016042.4(EXOSC3):c.112del (p.Glu38fs) rs587780333
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs) rs2118980242
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile) rs1198691735
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs) rs2118980158
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) rs730882145
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) rs773876739
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu) rs1025711998
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) rs1644626732
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) rs1644591704
NM_020631.6(PLEKHG5):c.1258del (p.Asp420fs)
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter) rs1435710212
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) rs1644550472
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) rs1644549927
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter) rs760122001
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) rs1644525008
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs) rs2148578668
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
NM_020631.6(PLEKHG5):c.2146G>T (p.Glu716Ter)
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter) rs184242303
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs) rs759212541
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
NM_020631.6(PLEKHG5):c.2665del (p.Ala889fs)
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
NM_020631.6(PLEKHG5):c.2880_2881del (p.Pro961fs)
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs) rs2148591365
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs) rs1569875704
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs) rs1553175760
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) rs1644651573
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter) rs376900021
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) rs730882255
NM_020919.4(ALS2):c.2580+2T>C rs2106023727
NM_020919.4(ALS2):c.2707dup (p.Met903fs) rs2106012637
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) rs757972700
NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) rs2105972075
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter) rs1689931402
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) rs267607149
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) rs1558872865
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter) rs1226110412
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.4(SPG11):c.2250del (p.Phe750fs) rs2083790483
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.7029dup (p.Val2344fs) rs312262788
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter) rs730880294
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs) rs2054534882
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg) rs886037739
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn) rs397518453
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys) rs879253779
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg) rs754594235
NM_177924.5(ASAH1):c.125+1G>A rs1588999312
NM_177924.5(ASAH1):c.223_224insC (p.Val75fs) rs1588990194
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) rs966267709
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile) rs1588978873
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe) rs1588978684
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg) rs886039750
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter) rs794729663
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) rs606231285
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter) rs2076486420
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) rs775935265
NM_205836.3(FBXO38):c.2215C>A (p.Pro739Thr)
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg) rs398122838
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter) rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) rs797046055
NM_207346.3(TSEN54):c.823del (p.Val275fs) rs797046057
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) rs730880031
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu) rs2145927350

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