NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)
|
rs36117895
|
0.03931
|
NM_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00049
|
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)
|
rs200693133
|
0.00012
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)
|
rs373579128
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)
|
rs151107837
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000132.4(F8):c.5999-11G>A
|
rs782132907
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr)
|
rs531275086
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)
|
rs760153272
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
|
rs150951454
|
0.00001
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
NM_004629.2(FANCG):c.1761-2A>C
|
rs765150956
|
0.00001
|
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)
|
rs1131691266
|
0.00001
|
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)
|
rs786201031
|
0.00001
|
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
|
|
|
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
|
|
|
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)
|
rs28941474
|
|
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg)
|
rs754259099
|
|
NM_000048.4(ASL):c.478del (p.His160fs)
|
|
|
NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs)
|
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
|
|
|
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter)
|
rs144445150
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg)
|
rs2145950047
|
|
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer)
|
rs2124006012
|
|
NM_000215.4(JAK3):c.3096+1G>T
|
|
|
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter)
|
rs1057516756
|
|
NM_000234.3(LIG1):c.2444del (p.Leu815fs)
|
|
|
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)
|
rs878853322
|
|
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
|
|
|
NM_000359.3(TGM1):c.874C>T (p.Gln292Ter)
|
|
|
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
|
|
|
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter)
|
|
|
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs)
|
rs1784335277
|
|
NM_000439.5(PCSK1):c.818del (p.Asp273fs)
|
|
|
NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)
|
|
|
NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)
|
|
|
NM_000487.6(ARSA):c.937dup (p.Arg313fs)
|
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)
|
rs761483896
|
|
NM_000558.5(HBA1):c.300+1G>A
|
rs758093235
|
|
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)
|
rs730880298
|
|
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter)
|
rs1131003
|
|
NM_001040142.2(SCN2A):c.1635del (p.Arg545fs)
|
|
|
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)
|
|
|
NM_001110792.2(MECP2):c.746dup (p.Gly250fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg)
|
rs61749723
|
|
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
|
|
|
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)
|
rs750785552
|
|
NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp)
|
rs1233347902
|
|
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
|
|
|
NM_001164508.2(NEB):c.9102+1G>C
|
rs143644938
|
|
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
|
rs1698004184
|
|
NM_001165963.4(SCN1A):c.1171-1G>A
|
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)
|
rs1553545740
|
|
NM_001165963.4(SCN1A):c.2589+2dup
|
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.265del (p.Thr89fs)
|
rs2105918665
|
|
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)
|
rs121918796
|
|
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)
|
rs796052991
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
|
|
|
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
|
|
|
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
|
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
|
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs)
|
rs2105425236
|
|
NM_001195248.2(APTX):c.729del (p.Lys243fs)
|
|
|
NM_001205254.2(OCLN):c.1542del (p.Gly515fs)
|
|
|
NM_001244008.2(KIF1A):c.3901+498del
|
|
|
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
|
|
|
NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer)
|
|
|
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
|
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
|
|
|
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)
|
rs796052236
|
|
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
|
|
|
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
|
|
|
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
|
|
|
NM_001739.2(CA5A):c.618+1G>T
|
|
|
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)
|
rs878855315
|
|
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn)
|
rs267607509
|
|
NM_002085.5(GPX4):c.365del (p.Gly122fs)
|
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002495.4(NDUFS4):c.351-1G>C
|
|
|
NM_002662.5(PLD1):c.1062-2A>T
|
|
|
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala)
|
rs121918652
|
|
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
|
|
|
NM_003482.4(KMT2D):c.7644del (p.Lys2548fs)
|
|
|
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)
|
rs1555191598
|
|
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
|
|
|
NM_003676.4(DEGS1):c.826-1G>A
|
rs1273116884
|
|
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
|
|
|
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)
|
rs760489970
|
|
NM_004006.3(DMD):c.2381-1G>T
|
rs398123887
|
|
NM_004035.7(ACOX1):c.1813dup (p.Ala605fs)
|
|
|
NM_004211.5(SLC6A5):c.975del (p.Lys325fs)
|
rs2133775660
|
|
NM_004268.5(MED17):c.604A>T (p.Lys202Ter)
|
|
|
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)
|
rs199788797
|
|
NM_005249.5(FOXG1):c.339del (p.Ala114fs)
|
|
|
NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)
|
|
|
NM_005327.7(HADH):c.166_169del (p.Val56fs)
|
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005560.6(LAMA5):c.5071del (p.Glu1691fs)
|
|
|
NM_005726.6(TSFM):c.192C>A (p.Cys64Ter)
|
rs752852871
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
|
|
|
NM_014268.4(MAPRE2):c.517C>T (p.Arg173Ter)
|
|
|
NM_014363.6(SACS):c.2185+1G>T
|
|
|
NM_014625.4(NPHS2):c.122_135dup (p.Ser46fs)
|
|
|
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)
|
rs777790290
|
|
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
|
|
|
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter)
|
rs780953224
|
|
NM_017780.4(CHD7):c.3757_3778+7del
|
|
|
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
|
|
|
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
|
rs1563669432
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_018105.3(THAP1):c.190_191del (p.Lys64fs)
|
|
|
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)
|
rs606231237
|
|
NM_019042.5(PUS7):c.843-1G>A
|
|
|
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter)
|
rs537827975
|
|
NM_020427.3(SLURP1):c.111C>A (p.Cys37Ter)
|
|
|
NM_020461.4(TUBGCP6):c.741+1G>A
|
rs1460482736
|
|
NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)
|
|
|
NM_022081.6(HPS4):c.133-2A>T
|
|
|
NM_022168.4(IFIH1):c.2304+1G>T
|
rs762865950
|
|
NM_023110.3(FGFR1):c.*1111C>T
|
rs867360704
|
|
NM_024757.5(EHMT1):c.3461+1G>C
|
|
|
NM_024769.5(CLMP):c.574C>T (p.Arg192Ter)
|
rs1394600425
|
|
NM_025137.4(SPG11):c.6871dup (p.Cys2291fs)
|
|
|
NM_031310.3(PLVAP):c.1086del (p.Lys363fs)
|
|
|
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
|
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
NM_130837.3(OPA1):c.*4_*5+2del
|
rs754411271
|
|
NM_133433.4(NIPBL):c.551dup (p.Gly185fs)
|
|
|
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter)
|
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138927.4(SON):c.6657+198A>T
|
|
|
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
|
|
|
NM_153460.4(IL17RC):c.763-2_764del
|
rs755012426
|
|
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
|
|
|
NM_173495.3(PTCHD1):c.1434C>A (p.Tyr478Ter)
|
|
|
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
|
|
|
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
|
|
|
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)
|
|
|
NM_194292.3(SASS6):c.170del (p.Leu57fs)
|
rs763290832
|
|
NM_198252.3(GSN):c.-9-1987dup
|
|
|