NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
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_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_000454.5(SOD1):c.435G>C (p.Leu145Phe)
|
rs1482760341
|
0.00002
|
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)
|
rs934287314
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
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_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
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.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)
|
rs750571210
|
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_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.1330C>T (p.Arg444Ter)
|
rs142030898
|
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_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
|
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_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
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_000012.11:g.(?_64849651)_(64854129_?)del
|
|
|
NC_000012.11:g.(?_64875602)_(64879817_?)del
|
|
|
NM_000344.4(SMN1):c.835-21_*3+17del
|
rs1561503058
|
|
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)
|
|
|
NM_000344.4(SMN1):c.862dup (p.Arg288fs)
|
rs1580895068
|
|
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.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.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.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.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.280G>A (p.Gly94Ser)
|
|
|
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.374A>G (p.Asp125Gly)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.374A>T (p.Asp125Val)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
|
|
|
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
|
|
|
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.443G>A (p.Gly148Asp)
|
rs1555836950
|
|
NM_000454.5(SOD1):c.446T>G (p.Val149Gly)
|
rs1476760624
|
|
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.68A>T (p.Gln23Leu)
|
rs1169198442
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
|
|
|
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
|
|
|
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.1552C>T (p.Gln518Ter)
|
|
|
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)
|
rs1564354968
|
|
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_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.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.626dup (p.Leu210fs)
|
|
|
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.1394-2del
|
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.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.1554_1557del (p.Gln519fs)
|
rs2144142389
|
|
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.1573C>A (p.Pro525Thr)
|
|
|
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)
|
rs886041390
|
|
NM_004960.4(FUS):c.253C>T (p.Gln85Ter)
|
|
|
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.19del (p.Arg7fs)
|
rs747285235
|
|
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_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>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.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
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_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.1335G>A (p.Trp445Ter)
|
rs2136079548
|
|
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)
|
rs876657404
|
|
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.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.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.300_309del (p.Ser102fs)
|
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
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.748C>T (p.Gln250Ter)
|
|
|
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)
|
rs1284582102
|
|
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)
|
|
|
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser)
|
rs387906710
|
|
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His)
|
rs387906709
|
|
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.6422dup (p.Ser2142fs)
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
|
rs730880030
|
|
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)
|
rs2145927350
|
|