NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00006
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
|
rs121918718
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667
|
0.00004
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_024513.4(FYCO1):c.3330C>A (p.Cys1110Ter)
|
rs764164884
|
0.00004
|
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)
|
rs397514688
|
0.00003
|
NM_014239.4(EIF2B2):c.254T>A (p.Val85Glu)
|
rs397514648
|
0.00003
|
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)
|
rs370455806
|
0.00003
|
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg)
|
rs762345055
|
0.00003
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His)
|
rs761175955
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg)
|
rs730882241
|
0.00002
|
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg)
|
rs373676533
|
0.00002
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
|
rs770605959
|
0.00001
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)
|
rs780976048
|
0.00001
|
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)
|
rs371374104
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr)
|
rs1659954399
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)
|
rs28939084
|
0.00001
|
NM_001371596.2(MFSD8):c.1351-1G>A
|
rs565253666
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
NM_002615.7(SERPINF1):c.205C>T (p.Arg69Ter)
|
rs765137033
|
0.00001
|
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val)
|
rs201657455
|
0.00001
|
NM_004614.5(TK2):c.311G>A (p.Arg104His)
|
rs770318536
|
0.00001
|
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)
|
rs318240762
|
0.00001
|
NM_007347.5(AP4E1):c.910C>T (p.Arg304Ter)
|
rs569567659
|
0.00001
|
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)
|
rs372548739
|
0.00001
|
NM_015665.6(AAAS):c.463C>T (p.Arg155Cys)
|
rs777711720
|
0.00001
|
NM_016239.4(MYO15A):c.3956C>G (p.Ser1319Cys)
|
rs767354620
|
0.00001
|
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His)
|
rs374183624
|
0.00001
|
NM_016239.4(MYO15A):c.6436C>T (p.Arg2146Trp)
|
rs375805896
|
0.00001
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)
|
rs1173430388
|
0.00001
|
NM_024301.5(FKRP):c.1034G>C (p.Gly345Ala)
|
rs1249694833
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
|
rs778907433
|
0.00001
|
NM_025137.4(SPG11):c.5510T>G (p.Leu1837Ter)
|
rs2082710048
|
0.00001
|
NM_052867.4(NALCN):c.1434+1G>A
|
rs2041614157
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)
|
rs104894715
|
0.00001
|
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter)
|
rs1193193335
|
0.00001
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
NM_000018.4(ACADVL):c.869del (p.Gly290fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)
|
rs1473375424
|
|
NM_000023.4(SGCA):c.113A>G (p.His38Arg)
|
rs2144493345
|
|
NM_000023.4(SGCA):c.184T>C (p.Tyr62His)
|
rs2144494074
|
|
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)
|
rs1598265282
|
|
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu)
|
rs372046855
|
|
NM_000033.4(ABCD1):c.1093_1103del (p.Val365fs)
|
rs2148395370
|
|
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
|
rs2073669074
|
|
NM_000051.4(ATM):c.4572del (p.Ile1525fs)
|
rs2135801606
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs)
|
rs2136611559
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000069.3(CACNA1S):c.324C>G (p.Tyr108Ter)
|
rs200487405
|
|
NM_000070.3(CAPN3):c.1009T>C (p.Ser337Pro)
|
rs2141176978
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000070.3(CAPN3):c.1447G>A (p.Ala483Thr)
|
rs2141199638
|
|
NM_000070.3(CAPN3):c.1502C>T (p.Thr501Ile)
|
rs751104396
|
|
NM_000070.3(CAPN3):c.1633del (p.Gln545fs)
|
rs2141203052
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys)
|
rs1432632972
|
|
NM_000070.3(CAPN3):c.689del (p.Asp230fs)
|
rs2141167797
|
|
NM_000070.3(CAPN3):c.793T>C (p.Ser265Pro)
|
rs2053485355
|
|
NM_000070.3(CAPN3):c.795_800del (p.Ile266_Asp267del)
|
rs869312852
|
|
NM_000071.3(CBS):c.359_368del (p.Asp120fs)
|
rs2146394968
|
|
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)
|
rs1597613479
|
|
NM_000080.4(CHRNE):c.164T>A (p.Val55Asp)
|
rs2151098864
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.917G>C (p.Arg306Thr)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000082.4(ERCC8):c.275+1G>T
|
rs2112522829
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)
|
rs66527965
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)
|
rs1554395833
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
NM_000094.4(COL7A1):c.6464del (p.Pro2155fs)
|
rs2107667545
|
|
NM_000127.3(EXT1):c.1150A>T (p.Arg384Ter)
|
rs2129786203
|
|
NM_000135.4(FANCA):c.2504+1G>C
|
rs2039260545
|
|
NM_000138.5(FBN1):c.4243T>C (p.Cys1415Arg)
|
rs1555397557
|
|
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe)
|
rs1555394398
|
|
NM_000161.3(GCH1):c.263G>T (p.Arg88Leu)
|
rs2140127157
|
|
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu)
|
rs1555937161
|
|
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)
|
rs1574603062
|
|
NM_000182.5(HADHA):c.539C>T (p.Pro180Leu)
|
rs1574624062
|
|
NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter)
|
rs777045339
|
|
NM_000228.3(LAMB3):c.2582C>A (p.Ser861Ter)
|
rs145464247
|
|
NM_000232.5(SGCB):c.1A>T (p.Met1Leu)
|
rs398123262
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
NM_000255.4(MMUT):c.1436dup (p.Asp480fs)
|
rs2127417136
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000260.4(MYO7A):c.6028G>T (p.Asp2010Tyr)
|
rs755934966
|
|
NM_000260.4(MYO7A):c.75_82del (p.Ala26fs)
|
rs2135627450
|
|
NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs)
|
rs2143113297
|
|
NM_000271.5(NPC1):c.2985C>G (p.Phe995Leu)
|
rs2145366579
|
|
NM_000283.4(PDE6B):c.1670A>G (p.His557Arg)
|
rs536742386
|
|
NM_000288.4(PEX7):c.209T>G (p.Leu70Trp)
|
rs2115131765
|
|
NM_000307.5(POU3F4):c.929C>A (p.Ser310Ter)
|
rs1602641906
|
|
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)
|
rs200565348
|
|
NM_000310.4(PPT1):c.536+1G>A
|
rs386833651
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)
|
rs2132044757
|
|
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)
|
rs786205626
|
|
NM_000329.3(RPE65):c.938A>C (p.His313Pro)
|
rs1375943362
|
|
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)
|
rs121908556
|
|
NM_000337.6(SGCD):c.422dup (p.Thr143fs)
|
rs2113389287
|
|
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)
|
rs121434245
|
|
NM_000350.3(ABCA4):c.1795_1833del (p.Glu599_Leu611del)
|
rs2101078317
|
|
NM_000359.3(TGM1):c.1147G>A (p.Val383Met)
|
rs121918722
|
|
NM_000359.3(TGM1):c.1166G>A (p.Arg389His)
|
rs121918723
|
|
NM_000370.3(TTPA):c.798del (p.Glu267fs)
|
rs2129734219
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000377.3(WAS):c.1295dup (p.Ala433fs)
|
rs2147266958
|
|
NM_000414.4(HSD17B4):c.623-1G>T
|
rs1554064083
|
|
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs)
|
rs2114532990
|
|
NM_000426.4(LAMA2):c.4707G>A (p.Trp1569Ter)
|
rs2114593671
|
|
NM_000426.4(LAMA2):c.4818T>G (p.Tyr1606Ter)
|
rs1217989194
|
|
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer)
|
rs398123380
|
|
NM_000426.4(LAMA2):c.6430-2A>G
|
rs2114788484
|
|
NM_000426.4(LAMA2):c.6548T>G (p.Leu2183Arg)
|
rs2114788785
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000441.2(SLC26A4):c.882_883del (p.His294fs)
|
rs2129314494
|
|
NM_000441.2(SLC26A4):c.965dup (p.Asn322fs)
|
rs747834704
|
|
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)
|
rs121912445
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter)
|
rs1237394833
|
|
NM_000512.5(GALNS):c.616A>C (p.Thr206Pro)
|
rs1597570621
|
|
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)
|
rs556060696
|
|
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707
|
|
NM_000530.8(MPZ):c.68-2A>C
|
rs2102260263
|
|
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)
|
rs121917894
|
|
NM_000540.3(RYR1):c.11178_11193+7del
|
rs1600949818
|
|
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)
|
rs2145895177
|
|
NM_000540.3(RYR1):c.14738A>G (p.Tyr4913Cys)
|
rs1429521079
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_001039213.4(CEACAM16):c.459C>A (p.Cys153Ter)
|
rs2122194539
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu)
|
rs121909053
|
|
NM_001122764.3(PPOX):c.848T>C (p.Ile283Thr)
|
rs2101886463
|
|
NM_001127178.3(PIGG):c.1A>G (p.Met1Val)
|
rs1576983339
|
|
NM_001128228.3(TPRN):c.225_235dup (p.Leu79fs)
|
rs387906221
|
|
NM_001130987.2(DYSF):c.1381_1418del (p.Leu461fs)
|
rs2152760967
|
|
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)
|
rs2152855991
|
|
NM_001130987.2(DYSF):c.3894_3895del (p.Lys1299fs)
|
rs1558584694
|
|
NM_001130987.2(DYSF):c.440del (p.Pro147fs)
|
rs2152728763
|
|
NM_001130987.2(DYSF):c.4756-1G>A
|
rs2152940909
|
|
NM_001130987.2(DYSF):c.6236G>A (p.Trp2079Ter)
|
rs2152971975
|
|
NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter)
|
rs1314619609
|
|
NM_001145026.2(PTPRQ):c.6327+1G>A
|
rs1592779077
|
|
NM_001145026.2(PTPRQ):c.6775del (p.Leu2259fs)
|
rs2121304960
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.509A>C (p.His170Pro)
|
rs1484795726
|
|
NM_001159773.2(CANT1):c.493A>G (p.Met165Val)
|
rs2071063107
|
|
NM_001160372.4(TRAPPC9):c.2982_2986dup (p.Glu996fs)
|
rs2131117340
|
|
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)
|
rs387906574
|
|
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)
|
rs1002525817
|
|
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)
|
rs765965968
|
|
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)
|
rs760474458
|
|
NM_001256007.3(PNPLA8):c.65_66del (p.Gly22fs)
|
rs770314806
|
|
NM_001267550.2(TTN):c.106992del (p.Lys35665fs)
|
rs2154131298
|
|
NM_001278293.3(ARL6):c.349+1G>A
|
rs2108053962
|
|
NM_001323289.2(CDKL5):c.825+1dup
|
rs1602280455
|
|
NM_001348768.2(HECW2):c.2587T>C (p.Tyr863His)
|
rs1691301206
|
|
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs)
|
rs2136151586
|
|
NM_001353214.3(DYM):c.1729-1G>A
|
rs2145988239
|
|
NM_001365088.1(SLC12A6):c.1756del (p.Gln586fs)
|
rs2140693094
|
|
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)
|
rs1602292076
|
|
NM_001374504.1(TMPRSS6):c.1620_1627del (p.Gln541fs)
|
rs2146038092
|
|
NM_001374623.1(PNPLA1):c.670A>G (p.Asn224Asp)
|
rs2127346823
|
|
NM_001376.5(DYNC1H1):c.10422_10424dup (p.Arg3474dup)
|
rs2152592115
|
|
NM_001378452.1(ITPR1):c.3912C>G (p.His1304Gln)
|
rs556943368
|
|
NM_001378615.1(CC2D2A):c.1465C>T (p.Arg489Ter)
|
rs145678228
|
|
NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter)
|
rs747911784
|
|
NM_001378789.1(CERS3):c.915C>A (p.Asn305Lys)
|
rs1256164950
|
|
NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter)
|
rs2133202137
|
|
NM_001384140.1(PCDH15):c.4208_4209del (p.Lys1403fs)
|
rs2132598205
|
|
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)
|
rs1553704446
|
|
NM_001692.4(ATP6V1B1):c.509del (p.Pro170fs)
|
rs2104827591
|
|
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)
|
rs1555168505
|
|
NM_001849.4(COL6A2):c.1799dup (p.Thr601fs)
|
rs2123660828
|
|
NM_001904.4(CTNNB1):c.1793del (p.Leu598fs)
|
rs2125645060
|
|
NM_001927.4(DES):c.1289-2A>G
|
rs398122940
|
|
NM_001942.4(DSG1):c.684+1G>A
|
rs2144093610
|
|
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)
|
rs754304255
|
|
NM_002206.3(ITGA7):c.94_95dup (p.Ala33fs)
|
rs2136102892
|
|
NM_002241.5(KCNJ10):c.755C>G (p.Pro252Arg)
|
rs1571265375
|
|
NM_002334.4(LRP4):c.3698A>C (p.Glu1233Ala)
|
rs1940998166
|
|
NM_002465.4(MYBPC1):c.122del (p.Pro41fs)
|
rs2135990843
|
|
NM_002485.5(NBN):c.56T>A (p.Leu19Ter)
|
rs749263651
|
|
NM_002547.3(OPHN1):c.468_471del (p.Lys156fs)
|
rs2147523877
|
|
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter)
|
rs1302961946
|
|
NM_002677.5(PMP2):c.144TAT[1] (p.Ile50del)
|
rs2129708244
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003126.4(SPTA1):c.5308C>T (p.Gln1770Ter)
|
rs773168610
|
|
NM_003560.4(PLA2G6):c.1469G>A (p.Gly490Asp)
|
rs2145722278
|
|
NM_003560.4(PLA2G6):c.1921C>G (p.Pro641Ala)
|
rs2145682922
|
|
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)
|
rs549556142
|
|
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)
|
rs876661408
|
|
NM_003673.4(TCAP):c.14_15del (p.Glu5fs)
|
rs757082868
|
|
NM_003673.4(TCAP):c.90_91del (p.Ser31fs)
|
rs1555606976
|
|
NM_004006.3(DMD):c.10453_10454insA (p.Leu3485fs)
|
rs2148184147
|
|
NM_004006.3(DMD):c.1190del (p.Gly397fs)
|
rs2146821542
|
|
NM_004006.3(DMD):c.2328del (p.Lys776fs)
|
rs2148691292
|
|
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)
|
rs1569563678
|
|
NM_004006.3(DMD):c.4643T>A (p.Leu1548Ter)
|
rs2147557663
|
|
NM_004006.3(DMD):c.8297del (p.Leu2766fs)
|
rs2147176710
|
|
NM_004006.3(DMD):c.831G>T (p.Gln277His)
|
rs398124067
|
|
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)
|
rs724160020
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004369.4(COL6A3):c.5524G>C (p.Gly1842Arg)
|
rs1395597644
|
|
NM_004369.4(COL6A3):c.8634del (p.Thr2879fs)
|
rs2106314700
|
|
NM_004453.4(ETFDH):c.1112T>G (p.Phe371Cys)
|
rs2150312322
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)
|
rs398122797
|
|
NM_004629.2(FANCG):c.647-2_649del
|
rs2131056701
|
|
NM_004999.4(MYO6):c.1473+1G>A
|
rs2149288272
|
|
NM_005236.3(ERCC4):c.715G>A (p.Glu239Lys)
|
rs2141946259
|
|
NM_005340.7(HINT1):c.266G>T (p.Gly89Val)
|
rs397514490
|
|
NM_005422.4(TECTA):c.710C>T (p.Thr237Ile)
|
rs2135060276
|
|
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter)
|
rs1660173338
|
|
NM_005609.4(PYGM):c.331G>T (p.Glu111Ter)
|
rs779392056
|
|
NM_005670.4(EPM2A):c.690G>A (p.Trp230Ter)
|
rs1179064700
|
|
NM_005676.5(RBM10):c.355_358del (p.Glu119fs)
|
rs1602556716
|
|
NM_005677.4(COLQ):c.1089C>A (p.Tyr363Ter)
|
rs752967536
|
|
NM_005677.4(COLQ):c.1257del (p.Ser420fs)
|
rs2125081666
|
|
NM_005677.4(COLQ):c.211C>T (p.Arg71Ter)
|
rs1203598816
|
|
NM_005677.4(COLQ):c.909del (p.Tyr304fs)
|
rs2125089059
|
|
NM_005807.6(PRG4):c.2763_2766del (p.Arg922fs)
|
rs1271513895
|
|
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)
|
rs587782996
|
|
NM_006009.4(TUBA1A):c.602C>T (p.Ala201Val)
|
rs2121244360
|
|
NM_006158.5(NEFL):c.837G>A (p.Trp279Ter)
|
rs1586128169
|
|
NM_006204.4(PDE6C):c.1744A>T (p.Arg582Ter)
|
rs2134611976
|
|
NM_006306.4(SMC1A):c.1977del (p.Lys660fs)
|
rs2146599602
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter)
|
rs387906804
|
|
NM_007175.8(ERLIN2):c.549del (p.Asn182_Tyr183insTer)
|
rs1803175282
|
|
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)
|
rs768847609
|
|
NM_007289.4(MME):c.1861T>C (p.Cys621Arg)
|
rs879253752
|
|
NM_007289.4(MME):c.499T>A (p.Trp167Arg)
|
rs201533045
|
|
NM_012414.4(RAB3GAP2):c.961-2A>G
|
rs771863504
|
|
NM_013275.6(ANKRD11):c.7556A>T (p.His2519Leu)
|
rs2151703086
|
|
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)
|
rs1555762722
|
|
NM_014336.5(AIPL1):c.785-1G>C
|
rs2150675170
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_014363.6(SACS):c.6763del (p.Cys2255fs)
|
rs2137606872
|
|
NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter)
|
rs1585296361
|
|
NM_014738.6(TMEM94):c.683dup (p.Glu229fs)
|
rs2146643195
|
|
NM_015346.4(ZFYVE26):c.175del (p.Val59fs)
|
rs2140260770
|
|
NM_015346.4(ZFYVE26):c.6197G>A (p.Trp2066Ter)
|
rs2140194241
|
|
NM_015346.4(ZFYVE26):c.6707del (p.Lys2236fs)
|
rs2140185428
|
|
NM_015915.5(ATL1):c.1225G>A (p.Gly409Ser)
|
rs1064795212
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_016194.4(GNB5):c.640_643del (p.Ser214fs)
|
rs2141193854
|
|
NM_016239.4(MYO15A):c.3867-1G>A
|
rs993809972
|
|
NM_016302.4(CRBN):c.913_914dup (p.Gln306fs)
|
rs2126053905
|
|
NM_016373.4(WWOX):c.102C>A (p.Tyr34Ter)
|
rs1295198168
|
|
NM_016373.4(WWOX):c.321C>A (p.Tyr107Ter)
|
rs373306276
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_017671.5(FERMT1):c.958-1G>A
|
rs869312726
|
|
NM_017739.4(POMGNT1):c.1834dup (p.Trp612fs)
|
rs2148163693
|
|
NM_017882.3(CLN6):c.224del (p.Pro75fs)
|
rs2141141525
|
|
NM_017882.3(CLN6):c.83+1G>C
|
rs2141156157
|
|
NM_017909.4(RMND1):c.504+1G>A
|
rs1562800908
|
|
NM_018131.5(CEP55):c.1147G>T (p.Glu383Ter)
|
rs2134490704
|
|
NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln)
|
rs1135401728
|
|
NM_018972.4(GDAP1):c.157G>T (p.Glu53Ter)
|
rs746609932
|
|
NM_018972.4(GDAP1):c.802_803del (p.Trp268fs)
|
rs765346218
|
|
NM_020376.4(PNPLA2):c.1343dup (p.Cys449fs)
|
rs2133851953
|
|
NM_020376.4(PNPLA2):c.32C>T (p.Ser11Leu)
|
rs868742399
|
|
NM_020435.4(GJC2):c.760G>A (p.Val254Met)
|
rs2124966664
|
|
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)
|
rs1085307499
|
|
NM_020451.3(SELENON):c.869_870del (p.Phe290fs)
|
rs2124448112
|
|
NM_020533.3(MCOLN1):c.1016del (p.Gly339fs)
|
rs2146024743
|
|
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
|
rs121912823
|
|
NM_020771.4(HACE1):c.302C>A (p.Pro101His)
|
rs1582771457
|
|
NM_020919.4(ALS2):c.1640+1G>A
|
rs2106074229
|
|
NM_020919.4(ALS2):c.691C>T (p.Arg231Ter)
|
rs1340248169
|
|
NM_020987.5(ANK3):c.3327del (p.Glu1110fs)
|
rs2132085924
|
|
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)
|
rs875989851
|
|
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs)
|
rs1553691918
|
|
NM_021971.4(GMPPB):c.655A>T (p.Ile219Phe)
|
rs2108211362
|
|
NM_022041.4(GAN):c.994G>A (p.Gly332Arg)
|
rs1567494825
|
|
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)
|
rs2132740263
|
|
NM_022124.6(CDH23):c.3492del (p.Leu1166fs)
|
rs2132805287
|
|
NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys)
|
rs2132945762
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_024301.5(FKRP):c.935G>T (p.Arg312Leu)
|
rs868138875
|
|
NM_024312.5(GNPTAB):c.2448_2449del (p.Phe816fs)
|
rs2137116356
|
|
NM_024577.4(SH3TC2):c.163_164del (p.Ser55fs)
|
rs2127402305
|
|
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro)
|
rs1580900970
|
|
NM_024592.5(SRD5A3):c.698-1G>A
|
rs2109488570
|
|
NM_024596.5(MCPH1):c.321del (p.Lys107fs)
|
rs759663956
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
NM_024747.6(HPS6):c.1692dup (p.Phe565fs)
|
rs1384342700
|
|
NM_024884.3(L2HGDH):c.339T>A (p.Cys113Ter)
|
rs2030444679
|
|
NM_025137.4(SPG11):c.5473C>T (p.Gln1825Ter)
|
rs2140946934
|
|
NM_031448.6(C19orf12):c.371dup (p.Met124fs)
|
rs1568326754
|
|
NM_031885.5(BBS2):c.535-1G>C
|
rs2144177127
|
|
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter)
|
rs779948710
|
|
NM_032536.4(NTNG2):c.422T>C (p.Phe141Ser)
|
rs2130728045
|
|
NM_032551.5(KISS1R):c.969C>A (p.Tyr323Ter)
|
rs775830195
|
|
NM_032856.5(WDR73):c.173_174del (p.Leu58fs)
|
rs2141846587
|
|
NM_033022.4(RPS24):c.69+1G>T
|
rs2131976201
|
|
NM_033305.3(VPS13A):c.4956+1G>A
|
rs1085307823
|
|
NM_033337.3(CAV3):c.154_155dup (p.Ser53fs)
|
rs2124988278
|
|
NM_052867.4(NALCN):c.1514del (p.Lys505fs)
|
rs2140132954
|
|
NM_052988.5(CDK10):c.202A>T (p.Lys68Ter)
|
rs2151571212
|
|
NM_147196.3(TMIE):c.349G>T (p.Glu117Ter)
|
rs2106787058
|
|
NM_152443.3(RDH12):c.759dup (p.Phe254fs)
|
rs1594867516
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
NM_152618.3(BBS12):c.2019del (p.Trp673fs)
|
rs2150738027
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.776A>G (p.Tyr259Cys)
|
rs2102881813
|
|
NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)
|
rs267607631
|
|
NM_170784.3(MKKS):c.1334T>G (p.Leu445Ter)
|
rs1057516054
|
|
NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs)
|
rs2105992974
|
|
NM_177924.5(ASAH1):c.109C>A (p.Pro37Thr)
|
rs2117078394
|
|
NM_182548.4(LHFPL5):c.649+1del
|
rs1581972457
|
|
NM_182961.4(SYNE1):c.21985_21986del (p.Leu7329fs)
|
rs2153456779
|
|
NM_183075.3(CYP2U1):c.631C>T (p.Gln211Ter)
|
rs2126199263
|
|
NM_194248.3(OTOF):c.3570+2T>C
|
rs1464318474
|
|
NM_198428.3(BBS9):c.855del (p.Asp284_Trp285insTer)
|
rs2128345173
|
|
NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr)
|
rs2125304648
|
|
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del)
|
rs864309673
|
|
NM_201384.3(PLEC):c.2983C>T (p.Gln995Ter)
|
rs1554711139
|
|
NM_201384.3(PLEC):c.6388C>T (p.Gln2130Ter)
|
rs781823434
|
|
NM_201384.3(PLEC):c.647_656del (p.Leu216fs)
|
rs2132086965
|
|
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)
|
rs121908462
|
|
NM_206933.4(USH2A):c.9945C>A (p.Tyr3315Ter)
|
rs1161652737
|
|
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)
|
rs1553769457
|
|