|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
|
NM_000518.5(HBB):c.-31C>T
|
rs63750628
|
0.00003
|
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
|
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)
|
rs374328858
|
0.00001
|
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+11A>G
|
rs515726114
|
0.00001
|
|
NM_000032.5(ALAS2):c.-15-1829T>C
|
|
|
|
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)
|
rs55877890
|
|
|
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
|
|
|
|
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
|
|
|
|
NM_000365.6(TPI1):c.544-1G>C
|
rs2138094606
|
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
|
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
|
NM_000518.5(HBB):c.279C>G (p.His93Gln)
|
|
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
|
NM_000969.5(RPL5):c.3+1G>A
|
|
|
|
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
|
|
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
|
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
|
|
|
|
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)
|
rs2145927881
|
|
|
NM_006947.4(SRP72):c.-10C>T
|
|
|
|
NM_033022.4(RPS24):c.3G>A (p.Met1Ile)
|
rs2131972918
|
|
|
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
|
|
|