NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
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_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
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_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)
|
rs121434507
|
0.00006
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
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_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
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_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_003579.4(RAD54L):c.188C>A (p.Pro63His)
|
rs121908688
|
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
|
L222*
|
|
|
MLH1, EPIGENETICALLY SILENCED
|
|
|
MLH1, EX16DEL
|
|
|
MLH1, HYPERMETHYLATION
|
|
|
MSH2, 24-BP INS
|
|
|
MSH2, 32-KB DEL, EX1-6
|
|
|
MSH2, DEL 50 CODONS
|
|
|
MSH6, 1-BP DEL, 594T
|
|
|
NC_000002.12:g.47430139_47449418del
|
|
|
NC_000003.11:g.37089454_37101079del
|
|
|
NC_000016.10:g.68602418_68796011del
|
|
|
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_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
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_000245.4(MET):c.3518C>T (p.Thr1173Ile)
|
rs121913675
|
|
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.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_000251.2(MSH2):c.-125_1076+?del
|
|
|
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_000455.5(STK11):c.108C>A (p.Tyr36Ter)
|
rs137853079
|
|
NM_000455.5(STK11):c.650del (p.Pro217fs)
|
rs397518442
|
|
NM_000455.5(STK11):c.936del (p.Lys312fs)
|
rs397518443
|
|
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_000546.6(TP53):c.105G>T (p.Leu35Phe)
|
rs121912661
|
|
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_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)
|
rs121434587
|
|
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)
|
rs121434588
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
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_001300.6(KLF6):c.465C>A (p.Ser155Arg)
|
rs121909144
|
|
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_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.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_002198.3(IRF1):c.22A>T (p.Met8Leu)
|
rs121912469
|
|
NM_002354.2(EPCAM):c.859-1462_*1999del
|
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)
|
rs121434623
|
|
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_003921.5(BCL10):c.136dup (p.Ile46fs)
|
rs387906351
|
|
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.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_004360.5(CDH1):c.1008G>T (p.Glu336Asp)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)
|
rs121964874
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2440-396_*224delinsGGA
|
rs2152143625
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)
|
rs121964875
|
|
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)
|
rs121964876
|
|
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser)
|
rs28933369
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)
|
rs121908567
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_005215.4(DCC):c.4124C>A (p.Pro1375His)
|
rs387906555
|
|
NM_005215.4(DCC):c.503T>C (p.Met168Thr)
|
rs121912967
|
|
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_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.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)
|
rs587776802
|
|
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)
|
rs119487098
|
|
NM_017763.6(RNF43):c.337C>T (p.Arg113Ter)
|
rs1567880628
|
|
NM_017763.6(RNF43):c.394C>T (p.Arg132Ter)
|
rs786205215
|
|
NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)
|
rs119473032
|
|
NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro)
|
rs28937897
|
|
NM_032977.4(CASP10):c.769C>T (p.Gln257Ter)
|
rs121909775
|
|
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_138761.4(BAX):c.121del (p.Glu41fs)
|
rs398122840
|
|
NM_138761.4(BAX):c.121dup (p.Glu41fs)
|
rs398122840
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala)
|
rs121908500
|
|
NR_030286.1(MIR559):n.278_23134del
|
|
|
PDGRL, 2-BP DEL
|
|
|
m.10563T>C
|
rs267606892
|
|
m.14985G>A
|
rs207459995
|
|
m.15572T>C
|
rs207459996
|
|
m.3308T>C
|
rs28358582
|
|
m.6264G>A
|
rs267606882
|
|
m.6277G>A
|
rs281865417
|
|
m.7275T>C
|
rs267606884
|
|
m.8009G>A
|
rs199474826
|
|