NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)
|
rs141422170
|
0.00005
|
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)
|
rs774333382
|
0.00004
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)
|
rs769506340
|
0.00003
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
NM_000518.5(HBB):c.48G>A (p.Trp16Ter)
|
rs34716011
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs)
|
rs1567593047
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
|
rs185753709
|
|
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)
|
rs1344899647
|
|
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)
|
rs1569078754
|
|
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)
|
rs33960103
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.315+1G>T
|
rs33945777
|
|
NM_000611.6(CD59):c.190T>G (p.Cys64Gly)
|
rs1554939509
|
|
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp)
|
rs1564972905
|
|
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser)
|
rs1592344306
|
|
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn)
|
rs1553285006
|
|
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
|
|
NM_000975.5(RPL11):c.43_49del (p.Leu15fs)
|
rs1553121678
|
|
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu)
|
rs1572360947
|
|
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter)
|
rs1554790861
|
|
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter)
|
rs1554006017
|
|
NM_004629.2(FANCG):c.84+53G>T
|
rs1563987651
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro)
|
rs1555876854
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|