NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)
|
rs374186605
|
0.00008
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)
|
rs199929086
|
0.00004
|
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys)
|
rs754659947
|
0.00004
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)
|
rs776371246
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
|
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)
|
rs769664228
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000969.5(RPL5):c.528-1G>A
|
|
|
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
|
|
|
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)
|
rs1364046604
|
|
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
|
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)
|
rs2082214097
|
|
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)
|
rs1345709572
|
|
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
|
|
|
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
|
|
|
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)
|
rs1704930969
|
|
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
|
|
|
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
|
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
|
|
|
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
|
|
|