NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)
|
rs535877562
|
0.00020
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)
|
rs138081429
|
0.00014
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
|
rs200295901
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)
|
rs150734953
|
0.00007
|
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)
|
rs141045127
|
0.00006
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00004
|
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028
|
0.00004
|
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
|
rs745608560
|
0.00004
|
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter)
|
rs572725483
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr)
|
rs773957702
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)
|
rs755312472
|
0.00003
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)
|
rs776710796
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00002
|
NM_001079866.2(BCS1L):c.-50+405A>G
|
rs898301590
|
0.00002
|
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)
|
rs778531326
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
|
rs770792767
|
0.00001
|
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)
|
rs371117662
|
0.00001
|
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)
|
rs375716771
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)
|
rs922800309
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)
|
rs372955218
|
0.00001
|
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)
|
rs1585339231
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000051.4(ATM):c.513C>T (p.Tyr171=)
|
rs786201693
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)
|
rs80359209
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)
|
rs1603435026
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
NM_000232.5(SGCB):c.753+5G>A
|
rs936193061
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)
|
rs869312775
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)
|
rs1600921854
|
|
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)
|
rs1599646668
|
|
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)
|
rs756850145
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])
|
rs1555111511
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)
|
rs2135114515
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)
|
rs1559602593
|
|
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)
|
rs756204684
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer)
|
rs1565570957
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)
|
rs1011464708
|
|
NM_004006.3(DMD):c.9649+2dup
|
rs1602695597
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)
|
rs1379395211
|
|
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys)
|
rs1449637193
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)
|
rs1555365509
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)
|
rs1555461835
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del)
|
rs774277094
|
|
NM_033380.3(COL4A5):c.1588-10C>G
|
rs1603290097
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile)
|
rs1567708034
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe)
|
rs1599663316
|
|