NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)
|
rs104893751
|
0.00233
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_003579.4(RAD54L):c.188C>A (p.Pro63His)
|
rs121908688
|
0.00001
|
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)
|
rs121908690
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)
|
rs781626187
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NC_000008.11:g.52623770_52685461del
|
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)
|
rs121913668
|
|
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile)
|
rs121913675
|
|
NM_000245.4(MET):c.3562G>T (p.Val1188Leu)
|
rs121913669
|
|
NM_000245.4(MET):c.3583C>G (p.Leu1195Val)
|
rs121913673
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)
|
rs121913671
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg)
|
rs121913677
|
|
NM_000245.4(MET):c.3750G>A (p.Met1250Ile)
|
rs121913676
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)
|
rs121434587
|
|
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)
|
rs121434588
|
|
NM_001368894.2(PAX6):c.10+5G>C
|
rs587776572
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)
|
rs587776665
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)
|
rs864321679
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
|
|
|
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)
|
rs587776627
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)
|
rs121913469
|
|
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)
|
rs397516975
|
|
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup)
|
rs587776805
|
|
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)
|
rs119486096
|
|
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)
|
rs104894171
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)
|
rs587776802
|
|
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
|
|
|
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)
|
rs137852869
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)
|
rs797044990
|
|
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys)
|
rs377767434
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
|
rs78347871
|
|
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)
|
rs121434263
|
|
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)
|
rs587776561
|
|
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)
|
rs121434265
|
|
NM_024529.5(CDC73):c.375dup (p.Arg126fs)
|
rs1572150584
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024529.5(CDC73):c.85del (p.Glu29fs)
|
rs587776560
|
|
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
|
|
|
PDGRL, 2-BP DEL
|
|
|
nsv1067861
|
|
|