NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00056
|
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)
|
rs72549380
|
0.00024
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
NM_000404.4(GLB1):c.75+2dup
|
rs587776525
|
0.00021
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
|
rs774312182
|
0.00011
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)
|
rs121912856
|
0.00009
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter)
|
rs775196743
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)
|
rs1220930025
|
0.00006
|
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)
|
rs779712562
|
0.00004
|
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)
|
rs201780665
|
0.00004
|
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)
|
rs72555370
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
|
rs201941476
|
0.00003
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter)
|
rs66913554
|
0.00002
|
NM_004629.2(FANCG):c.1077-2A>G
|
rs769547477
|
0.00002
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)
|
rs28935203
|
0.00001
|
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)
|
rs745360675
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000312.4(PROC):c.445dup (p.His149fs)
|
rs772629538
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000478.6(ALPL):c.648+1G>A
|
rs749544042
|
0.00001
|
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)
|
rs1278804520
|
0.00001
|
NM_001379500.1(COL18A1):c.3809+2T>C
|
rs113847452
|
0.00001
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)
|
rs886043590
|
0.00001
|
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)
|
rs121434425
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)
|
rs1064796104
|
|
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)
|
rs1565595129
|
|
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
|
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)
|
rs1566232471
|
|
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs)
|
rs1598286050
|
|
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs)
|
rs2153501416
|
|
NM_000093.5(COL5A1):c.4338+1G>A
|
rs1564481053
|
|
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu)
|
rs121912843
|
|
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)
|
rs2132621608
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)
|
rs1567621042
|
|
NM_000135.4(FANCA):c.2317-2A>G
|
rs1567618264
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)
|
rs763378933
|
|
NM_000138.5(FBN1):c.6379+1G>A
|
rs397515833
|
|
NM_000162.5(GCK):c.45+1G>T
|
rs781260712
|
|
NM_000179.3(MSH6):c.2930dup (p.Tyr977Ter)
|
rs1669529094
|
|
NM_000210.4(ITGA6):c.3167del (p.Lys1056fs)
|
rs1559159868
|
|
NM_000214.3(JAG1):c.2323del (p.Glu775fs)
|
rs2067296758
|
|
NM_000216.4(ANOS1):c.23_24del (p.Ala8fs)
|
rs1602050730
|
|
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)
|
rs1800958758
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)
|
rs878853378
|
|
NM_000264.5(PTCH1):c.1764del (p.Leu589fs)
|
rs1564035949
|
|
NM_000273.3(GPR143):c.548+2T>A
|
rs2083438278
|
|
NM_000273.3(GPR143):c.731del (p.Ile244fs)
|
rs1569118851
|
|
NM_000277.3(PAH):c.(?_169)_352+?del
|
|
|
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter)
|
rs562015640
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
NM_000368.5(TSC1):c.569_570delinsCT (p.Arg190Pro)
|
rs2132157246
|
|
NM_000372.5(TYR):c.714G>A (p.Trp238Ter)
|
rs1565386964
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000424.4(KRT5):c.596A>T (p.Lys199Met)
|
rs58766676
|
|
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)
|
rs1555729604
|
|
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)
|
rs2148152544
|
|
NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter)
|
rs760094345
|
|
NM_000494.4(COL17A1):c.779del (p.Pro260fs)
|
rs1589572214
|
|
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)
|
rs200862792
|
|
NM_000507.4(FBP1):c.1_170del (p.Met1fs)
|
rs1563991556
|
|
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)
|
rs1567526805
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000642.3(AGL):c.3481_3589-407del
|
|
|
NM_001002295.2(GATA3):c.389del (p.Leu130fs)
|
rs2131488953
|
|
NM_001009944.3(PKD1):c.7111del (p.Val2371fs)
|
rs1567187420
|
|
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
|
rs104894716
|
|
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)
|
rs397515537
|
|
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)
|
rs797045919
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)
|
rs1569236971
|
|
NM_001110556.2(FLNA):c.2020_2021del (p.Arg674fs)
|
rs1569551783
|
|
NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter)
|
|
|
NM_001126108.2(SLC12A3):c.659del (p.Gly220fs)
|
rs2144689577
|
|
NM_001135599.4:c.595_1245del
|
|
|
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter)
|
rs1562263385
|
|
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)
|
rs1057518332
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001270508.2(TNFAIP3):c.1694C>G (p.Ser565Ter)
|
|
|
NM_001287.6(CLCN7):c.2250+1G>T
|
rs1567263375
|
|
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)
|
rs121917834
|
|
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter)
|
rs1282230077
|
|
NM_001370259.2(MEN1):c.734del (p.Pro245fs)
|
rs1565646772
|
|
NM_001374353.1(GLI2):c.2302_2306dup (p.Arg770fs)
|
|
|
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter)
|
rs377021700
|
|
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)
|
rs1057519092
|
|
NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter)
|
rs2143184846
|
|
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
|
|
|
NM_001844.5(COL2A1):c.1887+1G>A
|
rs2136561510
|
|
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs)
|
rs1592233968
|
|
NM_001854.4(COL11A1):c.3438+2_3438+3del
|
rs1557847904
|
|
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)
|
rs1758886343
|
|
NM_002968.3(SALL1):c.1148del (p.Leu383fs)
|
|
|
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs)
|
rs386134225
|
|
NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs)
|
rs797045662
|
|
NM_003611.3(OFD1):c.1358_1362del (p.Lys452_Leu453insTer)
|
rs2047724604
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_004629.2(FANCG):c.1158del (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004826.4(ECEL1):c.509del (p.Gly170fs)
|
rs1553567937
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_005120.3(MED12):c.2224C>T (p.Gln742Ter)
|
rs2147791994
|
|
NM_005251.3(FOXC2):c.710dup (p.Gln238fs)
|
rs1974224118
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005861.4(STUB1):c.885dup (p.Glu296Ter)
|
rs1567283195
|
|
NM_006005.3(WFS1):c.439del (p.Arg147fs)
|
rs1560408865
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)
|
rs1337897299
|
|
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)
|
rs104894927
|
|
NM_013275.6(ANKRD11):c.5564_5565del (p.Tyr1855fs)
|
|
|
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs)
|
rs1563714392
|
|
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)
|
rs202247803
|
|
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter)
|
rs1565799131
|
|
NM_014516.4(CNOT3):c.732dup (p.Ser245fs)
|
rs753475896
|
|
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
|
|
|
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs)
|
rs2107416290
|
|
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)
|
rs137852657
|
|
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs)
|
rs1586452701
|
|
NM_017849.4(TMEM127):c.397del (p.His133fs)
|
rs1558752379
|
|
NM_017909.4(RMND1):c.856del (p.Glu286fs)
|
rs1780213490
|
|
NM_020376.4(PNPLA2):c.757+1G>T
|
rs869320738
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.945+1G>A
|
rs727502919
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs)
|
rs1569499015
|
|
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter)
|
rs104886217
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_138691.3(TMC1):c.885-2A>C
|
rs1564554148
|
|
NM_138927.4(SON):c.117del (p.Ile41fs)
|
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
|
rs113994135
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)
|
rs148646547
|
|
NM_153700.2(STRC):c.3499_4701+1del
|
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)
|
rs863224530
|
|
NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter)
|
rs2145417826
|
|
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter)
|
rs1558146243
|
|