NC_000007.14:g.22727026C>G
|
rs1800795
|
0.70949
|
NM_002443.3(MSMB):c.-89T=
|
rs10993994
|
0.45944
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
NM_000249.3(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
NM_001142616.3(EHBP1):c.1185+30064G>A
|
rs721048
|
0.13334
|
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_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_017449.5(EPHB2):c.*187A>T
|
rs76826147
|
0.01125
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_002716.5(PPP2R1B):c.269G>A (p.Gly90Asp)
|
rs1805076
|
0.00712
|
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr)
|
rs72552387
|
0.00667
|
NM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile)
|
rs147827860
|
0.00543
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser)
|
rs35882952
|
0.00424
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter)
|
rs74315364
|
0.00334
|
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn)
|
rs28936395
|
0.00287
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
NM_002555.6(SLC22A18):c.257G>A (p.Arg86His)
|
rs78838117
|
0.00263
|
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_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
|
rs119484087
|
0.00156
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys)
|
rs114817817
|
0.00101
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_001166108.2(PALLD):c.1965-12616C>T
|
rs121908291
|
0.00026
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile)
|
rs74315365
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu)
|
rs121434388
|
0.00017
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00014
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)
|
rs121918546
|
0.00010
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)
|
rs121434507
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_001276270.2(MBD4):c.1544-1G>T
|
rs778697654
|
0.00005
|
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter)
|
rs200758755
|
0.00004
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr)
|
rs119490107
|
0.00003
|
NM_032977.4(CASP10):c.440T>C (p.Met147Thr)
|
rs121909776
|
0.00003
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_001040108.2(MLH3):c.70C>G (p.Gln24Glu)
|
rs28937870
|
0.00002
|
NM_003921.5(BCL10):c.488C>T (p.Thr163Met)
|
rs370432633
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_138711.6(PPARG):c.857G>A (p.Arg286His)
|
rs28936407
|
0.00002
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
|
rs121912665
|
0.00001
|
NM_000546.6(TP53):c.974G>T (p.Gly325Val)
|
rs121912659
|
0.00001
|
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg)
|
rs121908439
|
0.00001
|
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln)
|
rs121917732
|
0.00001
|
NM_001127511.3(APC):c.-192A>G
|
rs879253784
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002555.6(SLC22A18):c.698C>T (p.Ser233Phe)
|
rs121909071
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
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_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser)
|
rs28933370
|
0.00001
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_005612.5(REST):c.831_832del (p.Cys278fs)
|
rs869025310
|
0.00001
|
NM_005612.5(REST):c.965A>G (p.His322Arg)
|
rs869025312
|
0.00001
|
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)
|
rs387906327
|
0.00001
|
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)
|
rs781626187
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
ARHGAP26, 52-BP INS
|
|
|
ARHGAP26, 74-BP INS
|
|
|
FLT3, INTERNAL TANDEM DUP
|
|
|
GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3
|
|
|
L222*
|
|
|
MLH1, EX16DEL
|
|
|
MLH1, HYPERMETHYLATION
|
|
|
MSH2, 24-BP INS
|
|
|
MSH2, 32-KB DEL, EX1-6
|
|
|
MSH2, DEL 50 CODONS
|
|
|
MSH6, 1-BP DEL, 594T
|
|
|
NC_000001.10:g.17375249_17390927del15679
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
NC_000002.12:g.47430139_47449418del
|
|
|
NC_000003.11:g.37089454_37101079del
|
|
|
NC_000008.11:g.52623770_52685461del
|
|
|
NC_012920.1(MT-CO1):m.6264G>A
|
rs267606882
|
|
NC_012920.1(MT-CO1):m.6277G>A
|
rs281865417
|
|
NC_012920.1(MT-CO1):m.7275T>C
|
rs267606884
|
|
NC_012920.1(MT-CO2):m.8009G>A
|
rs199474826
|
|
NC_012920.1(MT-CYB):m.14985G>A
|
rs207459995
|
|
NC_012920.1(MT-CYB):m.15572T>C
|
rs207459996
|
|
NC_012920.1(MT-ND1):m.3308T>C
|
rs28358582
|
|
NC_012920.1(MT-ND4L):m.10563T>C
|
rs267606892
|
|
NF1, IVS34, G-A, +18
|
|
|
NG_007109.2:g.4853_5124|gom
|
|
|
NG_007111.1:g.2007_15002del
|
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)
|
rs137854571
|
|
NM_000038.6(APC):c.3359G>A (p.Gly1120Glu)
|
rs28933379
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
rs80358785
|
|
NM_000059.4(BRCA2):c.5823del (p.Val1942fs)
|
rs80359540
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.528_535del (p.Lys177fs)
|
rs587776540
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.850del (p.His284fs)
|
rs587776836
|
|
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys)
|
rs121913111
|
|
NM_000179.3(MSH6):c.1574_3439-428dup
|
|
|
NM_000179.3(MSH6):c.1602del (p.Tyr535fs)
|
rs63751234
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr)
|
rs121913506
|
|
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_000249.4(MLH1):c.1038G>C (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)
|
rs121912965
|
|
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
|
rs63751109
|
|
NM_000249.4(MLH1):c.1667+1_1667+8delinsATTT
|
rs863223312
|
|
NM_000249.4(MLH1):c.1731+2247_1897-402del
|
|
|
NM_000249.4(MLH1):c.1764del (p.Ala589fs)
|
rs63751486
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)
|
rs63751642
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.755C>A (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)
|
rs63750691
|
|
NM_000249.4(MLH1):c.986A>C (p.His329Pro)
|
rs63750710
|
|
NM_000251.1(MSH2):c.-4729_367-353del
|
|
|
NM_000251.1(MSH2):c.-823_1076+5984del
|
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
|
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)
|
rs1553350126
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000314.8(PTEN):c.253+1G>A
|
rs587776667
|
|
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly)
|
rs121909237
|
|
NM_000321.3(RB1):c.-189G>T
|
rs387906520
|
|
NM_000321.3(RB1):c.-198G>A
|
rs387906521
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)
|
rs587776788
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)
|
rs137853292
|
|
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs)
|
rs587776784
|
|
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)
|
rs137853297
|
|
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer)
|
rs587776785
|
|
NM_000321.3(RB1):c.1960+2T>C
|
rs587776780
|
|
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter)
|
rs137853295
|
|
NM_000321.3(RB1):c.2107-2A>G
|
rs1593538130
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2211G>A (p.Glu737=)
|
rs587776787
|
|
NM_000321.3(RB1):c.2212-1G>A
|
rs587776786
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
NM_000321.3(RB1):c.2244del (p.Glu748fs)
|
rs587776781
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2490-1398A>G
|
rs587776791
|
|
NM_000321.3(RB1):c.2520+1del
|
rs587776779
|
|
NM_000321.3(RB1):c.43_65dup (p.Pro23fs)
|
rs587776790
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer)
|
rs1555285429
|
|
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)
|
rs137853079
|
|
NM_000455.5(STK11):c.488G>A (p.Gly163Asp)
|
rs137853078
|
|
NM_000455.5(STK11):c.650del (p.Pro217fs)
|
rs397518442
|
|
NM_000455.5(STK11):c.936del (p.Lys312fs)
|
rs397518443
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del)
|
rs267608159
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.846del (p.Ser283fs)
|
rs1057515571
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.6(TP53):c.105G>T (p.Leu35Phe)
|
rs121912661
|
|
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.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
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_001012393.5(OPCML):c.263C>G (p.Pro88Arg)
|
rs137852691
|
|
NM_001040108.2(MLH3):c.1496A>G (p.Asn499Ser)
|
rs28937871
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
NM_001048174.2(MUTYH):c.1129C>T (p.Pro377Ser)
|
rs121908382
|
|
NM_001048174.2(MUTYH):c.1157A>G (p.Gln386Arg)
|
rs121908383
|
|
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val)
|
rs121917731
|
|
NM_001127511.2(APC):c.[-125delA;-195A>C]
|
|
|
NM_001127511.3(APC):c.-191T>C
|
rs879253783
|
|
NM_001276270.2(MBD4):c.1384C>T (p.Arg462Trp)
|
rs1380952147
|
|
NM_001276270.2(MBD4):c.1688G>A (p.Trp563Ter)
|
rs939751619
|
|
NM_001300.6(KLF6):c.465C>A (p.Ser155Arg)
|
rs121909144
|
|
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_001370959.1(POU6F2):c.62C>G (p.Ser21Ter)
|
rs2116574924
|
|
NM_001370959.1(POU6F2):c.660G>T (p.Gln220His)
|
rs121918261
|
|
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)
|
rs587776665
|
|
NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr)
|
rs137853148
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001395463.1(PLA2G2A):c.144_145del (p.Cys48fs)
|
rs587776800
|
|
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)
|
rs864321679
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)
|
rs28937578
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
|
rs121913403
|
|
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.133_135del (p.Ser45del)
|
rs587776850
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly)
|
rs587776710
|
|
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter)
|
rs121434637
|
|
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)
|
rs398124628
|
|
NM_002198.3(IRF1):c.22A>T (p.Met8Leu)
|
rs121912469
|
|
NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)
|
rs121912470
|
|
NM_002354.2(EPCAM):c.859-1462_*1999del
|
|
|
NM_002439.5(MSH3):c.1148del (p.Lys383fs)
|
rs587776701
|
|
NM_002447.4(MST1R):c.917G>A (p.Arg306His)
|
rs200046052
|
|
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs)
|
rs587776806
|
|
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs)
|
rs1554138188
|
|
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs)
|
rs1554138189
|
|
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs)
|
rs1554138188
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
|
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)
|
rs121918465
|
|
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)
|
rs121434623
|
|
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
|
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.201-4429_287-934del
|
|
|
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr)
|
rs74315371
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003072.5(SMARCA4):c.2617-3C>G
|
rs587777463
|
|
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp)
|
rs587777464
|
|
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter)
|
rs587777460
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
NM_003072.5(SMARCA4):c.4170+1G>A
|
rs587777461
|
|
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter)
|
rs587777462
|
|
NM_003073.5(SMARCB1):c.591del (p.Gln198fs)
|
rs587776678
|
|
NM_003073.5(SMARCB1):c.629-361_795+2103dup
|
|
|
NM_003073.5(SMARCB1):c.986+1G>A
|
rs112038099
|
|
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)
|
rs121918714
|
|
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
|
rs104893815
|
|
NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs)
|
rs587776769
|
|
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)
|
rs587776627
|
|
NM_003842.5(TNFRSF10B):c.1150_1151dup (p.Met385fs)
|
|
|
NM_003921.5(BCL10):c.136dup (p.Ile46fs)
|
rs387906351
|
|
NM_003921.5(BCL10):c.428del (p.Phe143fs)
|
rs587776632
|
|
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503G>C (p.Asp835His)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr)
|
rs121913488
|
|
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del)
|
rs121913486
|
|
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val)
|
rs121909646
|
|
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu)
|
rs121913487
|
|
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer)
|
rs398122514
|
|
NM_004302.5(ACVR1B):c.1159_1163del (p.Asp387fs)
|
rs387906389
|
|
NM_004302.5(ACVR1B):c.1262-502_1392+24del
|
rs1555162597
|
|
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile)
|
rs180177032
|
|
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser)
|
rs180177033
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
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_004336.5(BUB1):c.1475C>A (p.Ser492Tyr)
|
rs121909055
|
|
NM_004336.5(BUB1):c.3069del (p.His1024fs)
|
rs587776642
|
|
NM_004336.5(BUB1):c.422+1G>A
|
rs794729661
|
|
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)
|
rs1555760738
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs)
|
rs587776848
|
|
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter)
|
rs121912791
|
|
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs)
|
rs587776849
|
|
NM_004364.5(CEBPA):c.251A>T (p.His84Leu)
|
rs28931590
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup)
|
rs1555741967
|
|
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)
|
rs1555741948
|
|
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.2326G>A (p.Gly776Ser)
|
rs28933369
|
|
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup)
|
rs587776805
|
|
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)
|
rs122453120
|
|
NM_004484.4(GPC3):c.361C>T (p.His121Tyr)
|
rs122453119
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)
|
rs121908567
|
|
NM_004656.4(BAP1):c.1717del (p.Leu573fs)
|
rs869025212
|
|
NM_004656.4(BAP1):c.79del (p.Val27fs)
|
rs397509413
|
|
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)
|
rs119486096
|
|
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)
|
rs104894171
|
|
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn)
|
rs121912472
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr)
|
rs121913457
|
|
NM_005157.6(ABL1):c.931T>C (p.Phe311Leu)
|
rs137853304
|
|
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys)
|
rs387906666
|
|
NM_005215.4(DCC):c.4124C>A (p.Pro1375His)
|
rs387906555
|
|
NM_005215.4(DCC):c.503T>C (p.Met168Thr)
|
rs121912967
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter)
|
rs121912576
|
|
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)
|
rs121912577
|
|
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His)
|
rs121912578
|
|
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter)
|
rs121912579
|
|
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys)
|
rs121913616
|
|
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)
|
rs587776885
|
|
NM_005612.5(REST):c.773_776del (p.Val258fs)
|
rs869025311
|
|
NM_005977.4(RNF6):c.305G>A (p.Arg102Lys)
|
rs121434522
|
|
NM_005977.4(RNF6):c.724G>A (p.Ala242Thr)
|
rs121434523
|
|
NM_005977.4(RNF6):c.731G>A (p.Gly244Asp)
|
rs121434524
|
|
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.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
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_007194.4(CHEK2):c.49G>T (p.Ala17Ser)
|
rs137853008
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)
|
rs113954997
|
|
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
|
|
|
NM_013988.3:c.(?_171+24726)_(424+11283_?)del
|
|
|
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)
|
rs137852869
|
|
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)
|
rs119487098
|
|
NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter)
|
rs121912582
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)
|
rs797044990
|
|
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
|
|
|
NM_020975.4(RET):c.[2410G>A;2711C>G]
|
|
|
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.1833C>G (p.Cys611Trp)
|
rs80069458
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1919C>G (p.Ala640Gly)
|
rs78935588
|
|
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_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)
|
rs119473032
|
|
NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro)
|
rs28937897
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_024426.6(WT1):c.1094del (p.Gly365fs)
|
rs587776574
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.546C>A (p.Tyr182Ter)
|
rs121907911
|
|
NM_024426.6(WT1):c.893_909del (p.Asn298fs)
|
rs587776573
|
|
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_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_032977.4(CASP10):c.769C>T (p.Gln257Ter)
|
rs121909775
|
|
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup)
|
rs606231202
|
|
NM_130439.3(MXI1):c.552+2T>C
|
rs387906417
|
|
NM_130439.3(MXI1):c.623del (p.Lys208fs)
|
|
|
NM_130439.3(MXI1):c.656A>C (p.Glu219Ala)
|
rs137852603
|
|
NM_138711.6(PPARG):c.466del (p.Ser156fs)
|
rs587776687
|
|
NM_138711.6(PPARG):c.851A>C (p.Gln284Pro)
|
rs121909242
|
|
NM_138711.6(PPARG):c.949A>T (p.Lys317Ter)
|
rs121909243
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_138761.4(BAX):c.121del (p.Glu41fs)
|
rs398122840
|
|
NM_138761.4(BAX):c.121dup (p.Glu41fs)
|
rs398122840
|
|
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
|
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)
|
rs137852977
|
|
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)
|
rs137852979
|
|
NM_177438.3(DICER1):c.2392dup (p.Thr798fs)
|
rs886037690
|
|
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter)
|
rs137852978
|
|
NM_177438.3(DICER1):c.3611_3616delinsT (p.Tyr1204fs)
|
rs886037651
|
|
NM_177438.3(DICER1):c.3907_3908del (p.Leu1303fs)
|
rs886037650
|
|
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)
|
rs137852976
|
|
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)
|
rs1595314576
|
|
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala)
|
rs121908500
|
|
NM_198219.3(ING1):c.575C>A (p.Ala192Asp)
|
rs121909252
|
|
NM_198219.3(ING1):c.644G>C (p.Cys215Ser)
|
rs121909250
|
|
NM_198219.3(ING1):c.647A>G (p.Asn216Ser)
|
rs121909251
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
NR_002196.1(H19):n.-7080_-1781del
|
|
|
NR_030286.1(MIR559):n.278_23134del
|
|
|
PALB2:c.2515-1G>T
|
rs587776417
|
|
PDGFB, PDGFB/COL1A1 FUSION
|
|
|
PDGRL, 2-BP DEL
|
|
|
RB1, 5-BP DEL, EX8
|
|
|
TSG101, VAL-ALA, 1162T-C
|
|
|
nsv1067861
|
|
|
t(4;14)(p16.3;q32.3)
|
|
|