NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln)
|
rs200307685
|
0.00010
|
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
|
rs377745714
|
0.00005
|
NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter)
|
rs150576702
|
0.00003
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_016222.4(DDX41):c.253G>T (p.Val85Phe)
|
rs773991873
|
0.00002
|
NM_002582.4(PARN):c.918+1G>T
|
rs756132866
|
0.00001
|
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)
|
rs746166328
|
0.00001
|
NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter)
|
rs770282904
|
|
NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala)
|
rs879253818
|
|
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys)
|
rs2144258402
|
|
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter)
|
rs2046518776
|
|
NM_001071.4(TYMS):c.480A>T (p.Gln160His)
|
rs894600614
|
|
NM_001071.4(TYMS):c.486_487del (p.Arg163fs)
|
rs2144335544
|
|
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter)
|
rs2144335824
|
|
NM_001071.4(TYMS):c.556+1G>A
|
rs2144335968
|
|
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter)
|
rs1703168604
|
|
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs)
|
rs2056458051
|
|
NM_001754.5(RUNX1):c.165dup (p.Leu56fs)
|
rs2058004321
|
|
NM_001754.5(RUNX1):c.351+1G>A
|
rs1060502579
|
|
NM_001754.5(RUNX1):c.588del (p.Val197fs)
|
rs2057541271
|
|
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
|
|
|
NM_002582.4(PARN):c.1148C>T (p.Ala383Val)
|
rs786200999
|
|
NM_016222.4(DDX41):c.155dup (p.Arg53fs)
|
rs766117035
|
|
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
|
rs866179648
|
|
NM_016222.4(DDX41):c.370C>T (p.Arg124Ter)
|
rs1297703150
|
|
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)
|
rs1761157695
|
|
NM_020207.7(ERCC6L2):c.1973G>A (p.Ser658Asn)
|
rs1453856448
|
|
NM_020207.7(ERCC6L2):c.2474_2484delinsAAAG (p.Thr825fs)
|
rs2133079257
|
|
NM_020207.7(ERCC6L2):c.2734del (p.Glu912fs)
|
rs2133080742
|
|
NM_020207.7(ERCC6L2):c.2919_2923del (p.Lys974fs)
|
rs2133081935
|
|
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
|
|
|
NM_020207.7:c.[3409_3410delAT];[3763C>T]
|
|
|
Single allele
|
|
|