|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
|
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
|
rs143153871
|
0.00006
|
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
|
NM_000518.5(HBB):c.384G>C (p.Gln128His)
|
rs1437278962
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NC_000023.11:g.154534338dup
|
rs2148330517
|
|
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
rs80359094
|
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
|
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
|
rs1017086086
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
|
NM_000355.4(TCN2):c.64+4A>T
|
|
|
|
NM_000517.6(HBA2):c.199C>A (p.Leu67Met)
|
rs1280121011
|
|
|
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln)
|
rs41323248
|
|
|
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg)
|
rs41323248
|
|
|
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile)
|
rs2142017990
|
|
|
NM_000517.6(HBA2):c.210_211insT (p.Val71fs)
|
rs2142018005
|
|
|
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile)
|
rs281864488
|
|
|
NM_001130053.5(EEF1D):c.1488+1G>A
|
|
|
|
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)
|
|
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
|
NM_001360016.2(G6PD):c.235G>C (p.Asp79His)
|
rs2148331875
|
|
|
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)
|
rs2148331380
|
|
|
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp)
|
rs2110239476
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
|
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
|
|
|
|
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
|
|
|
|
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)
|
|
|
|
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
|
|
|