NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)
|
rs777181377
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)
|
rs368970223
|
0.00004
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_001195248.2(APTX):c.596del (p.Arg199fs)
|
rs770007531
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_020778.5(ALPK3):c.297del (p.Ile99fs)
|
rs770674513
|
0.00002
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp)
|
rs28935496
|
0.00001
|
NM_000153.4(GALC):c.908+1G>A
|
rs750524447
|
0.00001
|
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)
|
rs752127949
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)
|
rs932183417
|
0.00001
|
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
|
rs1295935628
|
0.00001
|
NM_005186.4(CAPN1):c.843+1G>C
|
rs781683198
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)
|
rs199831317
|
0.00001
|
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter)
|
rs746634404
|
0.00001
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)
|
rs730881581
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu)
|
rs386833481
|
|
NM_000132.4(F8):c.3637del (p.Ile1213fs)
|
rs387906450
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)
|
rs794728319
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000159.4(GCDH):c.542_543del (p.Glu181fs)
|
rs2145950197
|
|
NM_000206.3(IL2RG):c.294del (p.Val99fs)
|
rs2092261618
|
|
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter)
|
rs727504289
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer)
|
rs121908774
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_000500.9(CYP21A2):c.1118+2T>C
|
rs1776240589
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)
|
rs1967945316
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001029896.2(WDR45):c.827+1G>C
|
rs1557083958
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001080517.3(SETD5):c.2347-7A>G
|
rs886041593
|
|
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)
|
rs121918544
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127898.4(CLCN5):c.1557+1G>T
|
rs1569540382
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
|
rs2105852411
|
|
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)
|
rs794726736
|
|
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)
|
rs794726778
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)
|
rs794726697
|
|
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)
|
rs121918734
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.4002+1G>T
|
rs1692153643
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)
|
rs794726784
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)
|
rs121917937
|
|
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs)
|
rs778003597
|
|
NM_001195518.2(MICU1):c.1072-1G>C
|
rs754639936
|
|
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs)
|
rs1556401744
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs)
|
rs764070148
|
|
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)
|
rs104895462
|
|
NM_002055.5(GFAP):c.259G>A (p.Val87Ile)
|
rs267607518
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_003172.4(SURF1):c.324-11T>G
|
rs375398247
|
|
NM_003722.5(TP63):c.955C>T (p.Arg319Cys)
|
rs121908839
|
|
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)
|
rs1555484797
|
|
NM_004429.5(EFNB1):c.499+1G>A
|
rs1556107481
|
|
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)
|
rs587777570
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)
|
rs1157413766
|
|
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs)
|
rs137854889
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)
|
rs767241917
|
|
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)
|
rs770684782
|
|
NM_015166.4(MLC1):c.135dup (p.Cys46fs)
|
rs80358241
|
|
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)
|
rs1563920252
|
|
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)
|
rs886040983
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)
|
rs1131691616
|
|
NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs)
|
rs2124967068
|
|
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)
|
rs193922702
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter)
|
rs1930251154
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter)
|
rs1452228678
|
|
NM_206933.4(USH2A):c.675_678del (p.Phe225fs)
|
rs2102708663
|
|