NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys)
|
rs121908085
|
0.00005
|
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)
|
rs387906870
|
0.00005
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_021147.5(CCNO):c.307C>T (p.Gln103Ter)
|
rs746493440
|
0.00004
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
NM_018129.4(PNPO):c.364-1G>A
|
rs774710082
|
0.00002
|
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)
|
rs267606751
|
0.00002
|
NM_000163.5(GHR):c.508G>C (p.Asp170His)
|
rs121909366
|
0.00001
|
NM_000330.4(RS1):c.185-3090_185-3089insT
|
rs1158418673
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter)
|
rs1014035512
|
0.00001
|
NM_001182.5(ALDH7A1):c.1489+5G>A
|
rs368820286
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter)
|
rs121912601
|
0.00001
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
NM_198239.2(CCN6):c.707del (p.Ser236fs)
|
rs1583586843
|
0.00001
|
NC_000009.11:g.(?_139018777)_(141018984_?)del
|
|
|
NM_000051.4(ATM):c.8787-1G>A
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
NM_000080.4(CHRNE):c.967_968insCTCACAGGGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCAG (p.Val323fs)
|
|
|
NM_000091.5(COL4A3):c.3752-2A>C
|
|
|
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter)
|
rs386833448
|
|
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter)
|
rs121913032
|
|
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
|
rs886039355
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000138.5(FBN1):c.3350G>T (p.Cys1117Phe)
|
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000214.3(JAG1):c.1052del (p.Cys351fs)
|
|
|
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter)
|
rs2102403618
|
|
NM_000232.5(SGCB):c.622-1G>C
|
rs2109370093
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000256.3(MYBPC3):c.2148+1G>A
|
rs1060499604
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
|
|
|
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)
|
rs1554269891
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.1528C>T (p.Gln510Ter)
|
|
|
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)
|
rs111033580
|
|
NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)
|
|
|
NM_001001547.2:c.(?_-183)_(120_?)del
|
|
|
NM_001001548.3(CD36):c.667_671dup (p.Ala225fs)
|
rs748431584
|
|
NM_001002029.3:c.(?_3231)_(3387_?)del
|
|
|
NM_001002295.2(GATA3):c.708del (p.Ser237fs)
|
rs771019738
|
|
NM_001013838.3(CARMIL2):c.950dup (p.Pro318fs)
|
|
|
NM_001023570.4(IQCB1):c.1130-1G>C
|
|
|
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)
|
rs2150368246
|
|
NM_001029896.2(WDR45):c.616del (p.Thr205_Val206insTer)
|
|
|
NM_001031710.3(KLHL7):c.1229G>A (p.Trp410Ter)
|
rs2128469727
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
|
rs2066138676
|
|
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met)
|
rs104895219
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001080442.3(SLC38A8):c.116del (p.Gly39fs)
|
rs2151131708
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001122630.2(CDKN1C):c.670C>T (p.Gln224Ter)
|
rs483352989
|
|
NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs)
|
rs758020565
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)
|
|
|
NM_001190787.3(MCIDAS):c.607-1G>T
|
|
|
NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs)
|
|
|
NM_001242896.3(DEPDC5):c.1093_1103del (p.Asp365fs)
|
|
|
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)
|
rs1566560531
|
|
NM_001355436.2(SPTB):c.1628G>A (p.Trp543Ter)
|
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)
|
rs781213892
|
|
NM_001374828.1(ARID1B):c.4479+1G>T
|
rs1554235041
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
NM_001384732.1(CPLANE1):c.8959-2A>G
|
|
|
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)
|
rs397516666
|
|
NM_001793.6(CDH3):c.830del (p.Gly277fs)
|
rs724159985
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002461.3(MVD):c.141+1del
|
rs2142906391
|
|
NM_002691.4(POLD1):c.3199G>A (p.Glu1067Lys)
|
rs1315638826
|
|
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)
|
rs312262845
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
NM_004006.3:c.(?_6439-1)_(8217+1_?)del
|
|
|
NM_004006.3:c.(?_7310-1)_(8217+1_?)del
|
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)
|
rs751206379
|
|
NM_005249.5(FOXG1):c.695A>C (p.Asn232Thr)
|
|
|
NM_005807.6(PRG4):c.1320dup (p.Lys441fs)
|
rs1557943002
|
|
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
|
rs769917456
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
NM_006846.4(SPINK5):c.882+1_882+3del
|
rs750225476
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006929.5(SKIC2):c.2341-1G>T
|
rs1772848223
|
|
NM_006950.3(SYN1):c.1166dup (p.Ser390fs)
|
rs2147912740
|
|
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
|
NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter)
|
rs1268684924
|
|
NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp)
|
rs1584251938
|
|
NM_017780.4(CHD7):c.4120_4121dup (p.Asn1374fs)
|
rs2150777291
|
|
NM_017780.4(CHD7):c.5677G>T (p.Glu1893Ter)
|
rs2150807513
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_021147.5(CCNO):c.259_268dup (p.Val90fs)
|
rs1398588555
|
|
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)
|
rs137853883
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_022455.5(NSD1):c.4242del (p.Glu1414fs)
|
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
NM_024685.4(BBS10):c.804_805del (p.Ser269fs)
|
rs1472533012
|
|
NM_032603.5(LOXL3):c.449delinsAA (p.Pro150fs)
|
|
|
NM_052988.5(CDK10):c.608+1G>A
|
rs771066826
|
|
NM_053274.3(GLMN):c.1406_1409del (p.Asp469fs)
|
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_138691.3(TMC1):c.846dup (p.Met283fs)
|
|
|
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter)
|
rs781361326
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs)
|
rs2141698833
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_153704.6(TMEM67):c.223+1G>T
|
|
|
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)
|
rs57983345
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_183381.3(RNF13):c.901G>T (p.Glu301Ter)
|
|
|
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)
|
rs764196809
|
|
NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)
|
rs1570520175
|
|
NM_203447.4(DOCK8):c.4241+1G>A
|
rs2131649330
|
|
NM_206538.4(EMC10):c.287del (p.Gly96fs)
|
rs770255014
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
UGT1A1*28
|
rs3064744
|
|