NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)
|
rs587779932
|
0.00004
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
GRCh37/hg19 2p21(chr2:47612218-47693997)x1
|
|
|
NM_000038.6(APC):c.1720G>T (p.Glu574Ter)
|
rs1764024563
|
|
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)
|
rs730881273
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs)
|
rs2104368213
|
|
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs)
|
rs1669432834
|
|
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
|
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs)
|
rs1572730021
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.588+1del
|
rs267607773
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.791-5T>G
|
rs267607788
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.2367del (p.Leu790fs)
|
rs1667397201
|
|
NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys)
|
rs1667403267
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
NM_000251.3(MSH2):c.795del (p.Ala266fs)
|
rs63749902
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+27_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del
|
|
|
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)
|
rs1783517960
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)
|
rs1554301436
|
|
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
|
|
|
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
|
|
|
NM_001904.4(CTNNB1):c.1296_1298del (p.Tyr432_Lys433delinsTer)
|
rs2078362331
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|