NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_004260.4(RECQL4):c.1391-1G>A
|
rs117642173
|
0.00005
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)
|
rs104894097
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
MN1-ETV6 fusion
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)
|
rs80358892
|
|
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)
|
rs80358936
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)
|
rs1575537843
|
|
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)
|
rs879254025
|
|
NM_000268.4(NF2):c.1613dup (p.Leu539fs)
|
rs2147122655
|
|
NM_000268.4(NF2):c.470_479dup (p.Gly161fs)
|
rs2146966685
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1333-1G>A
|
rs2138140730
|
|
NM_000321.3(RB1):c.1333-2A>G
|
rs1555286503
|
|
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)
|
rs2138145156
|
|
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)
|
rs1593457070
|
|
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)
|
rs121913303
|
|
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs)
|
rs2138327168
|
|
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs)
|
rs2138342284
|
|
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs)
|
rs2138344622
|
|
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter)
|
rs2138344925
|
|
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter)
|
rs2138344987
|
|
NM_000321.3(RB1):c.2325+1G>T
|
rs1131690882
|
|
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)
|
rs1593539386
|
|
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs)
|
rs2138345982
|
|
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer)
|
rs2138087597
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.840dup (p.His281fs)
|
rs2138112755
|
|
NM_000321.3(RB1):c.939+1G>A
|
rs2138116708
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000546.6(TP53):c.273G>A (p.Trp91Ter)
|
rs876660548
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)
|
rs2151433720
|
|
NM_001042492.3(NF1):c.4388del (p.Pro1463fs)
|
rs2151463107
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4883dup (p.Leu1628fs)
|
rs2151537647
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)
|
rs2145978723
|
|
NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)
|
rs2153113037
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.897_1260+1del
|
|
|
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs)
|
rs34134064
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
|
rs2154347100
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_177438.3(DICER1):c.5053C>T (p.Gln1685Ter)
|
rs886037721
|
|