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_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
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_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)
|
rs121434507
|
0.00006
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
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_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
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_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_002354.3(EPCAM):c.491+1G>A
|
rs606231203
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_138711.6(PPARG):c.857G>A (p.Arg286His)
|
rs28936407
|
0.00002
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000077.5(CDKN2A):c.2T>A (p.Met1Lys)
|
rs759871071
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)
|
rs1396658541
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
NM_000179.3(MSH6):c.1807A>T (p.Lys603Ter)
|
rs1238126377
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)
|
rs765763906
|
0.00001
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)
|
rs147542208
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter)
|
rs63751228
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)
|
rs878854037
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
|
rs121912665
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
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_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
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_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)
|
rs758599826
|
0.00001
|
NM_002354.3(EPCAM):c.429G>A (p.Trp143Ter)
|
rs878854488
|
0.00001
|
NM_002354.3(EPCAM):c.523C>T (p.Gln175Ter)
|
rs878854491
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002878.4(RAD51D):c.263+1503C>T
|
rs753486358
|
0.00001
|
NM_003579.4(RAD54L):c.188C>A (p.Pro63His)
|
rs121908688
|
0.00001
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
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_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5278-1G>C
|
rs80358099
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_025077.4(TOE1):c.1A>G (p.Met1Val)
|
rs865954220
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_058216.3(RAD51C):c.1A>G (p.Met1Val)
|
rs921435798
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
FGFR2-CLIP1 fusion
|
|
|
GRCh37/hg19 2p21(chr2:47511660-47641537)x1
|
|
|
GRCh37/hg19 2p21(chr2:47547722-47641537)x1
|
|
|
GRCh37/hg19 2p21(chr2:47612218-47693997)x1
|
|
|
GRCh37/hg19 3p22.2(chr3:37089011-37116538)
|
|
|
L222*
|
|
|
MLH1, EPIGENETICALLY SILENCED
|
|
|
MLH1, EX16DEL
|
|
|
MLH1, HYPERMETHYLATION
|
|
|
MLH1:c.(?_-198)_207+?del
|
|
|
MLH1:c.(?_-198)_306+?del
|
|
|
MSH2, 24-BP INS
|
|
|
MSH2, 32-KB DEL, EX1-6
|
|
|
MSH2, DEL 50 CODONS
|
|
|
MSH6, 1-BP DEL, 594T
|
|
|
NC_000002.11:g.(47607109_47612304)_(47698202_47702163)del
|
|
|
NC_000002.11:g.(47630542_47635539)_(47635695_47637232)del
|
|
|
NC_000002.11:g.(47630542_47635539)_(47643569_47656880)del
|
|
|
NC_000002.11:g.(47635695_47637232)_(47637512_47639552)del
|
|
|
NC_000002.11:g.(47635695_47637232)_(47643569_47656880)del
|
|
|
NC_000002.11:g.(47635695_47637232)_(47672797_47690169)del
|
|
|
NC_000002.11:g.(47639700_47641407)_(47641558_47643434)del
|
|
|
NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del
|
|
|
NC_000002.11:g.(47657081_47672686)_(47710368_?)del
|
|
|
NC_000002.11:g.(47672797_47690169)_(47690294_47693796)del
|
|
|
NC_000002.11:g.(48010633_48018065)_(48032167_48032756)del
|
|
|
NC_000002.11:g.(48018263_48023032)_(48033791_48033917)del
|
|
|
NC_000002.11:g.(48028295_48030558)_(48032167_48032756)del
|
|
|
NC_000002.11:g.(?_47510090)_(47637485_?)del
|
|
|
NC_000002.11:g.(?_47596286)_(47614168_?)del
|
|
|
NC_000002.11:g.(?_47596286)_(47630542_47635539)del
|
|
|
NC_000002.11:g.(?_47596286)_(47657081_47672686)del
|
|
|
NC_000002.11:g.(?_47596286)_(47710368_?)del
|
|
|
NC_000002.11:g.(?_47596635)_(47639709_?)del
|
|
|
NC_000002.11:g.(?_47596639)_(47705664_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47602448_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47604226_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47607118_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47639709_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47690303_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47600592)_(47604226_?)del
|
|
|
NC_000002.11:g.(?_47600592)_(47613752_?)del
|
|
|
NC_000002.11:g.(?_47602363)_(47602448_?)del
|
|
|
NC_000002.11:g.(?_47604133)_(47612369_?)del
|
|
|
NC_000002.11:g.(?_47604143)_(47607118_?)del
|
|
|
NC_000002.11:g.(?_47604143)_(47613752_?)del
|
|
|
NC_000002.11:g.(?_47612295)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47612824)_(47615711_?)del
|
|
|
NC_000002.11:g.(?_47613701)_(47613752_?)del
|
|
|
NC_000002.11:g.(?_47630150)_(47635704_?)del
|
|
|
NC_000002.11:g.(?_47630150)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47630150)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47630161)_(47643668_?)del
|
|
|
NC_000002.11:g.(?_47630205)_(47630542_47635539)del
|
|
|
NC_000002.11:g.(?_47630205)_(47698202_47702163)del
|
|
|
NC_000002.11:g.(?_47630205)_(47710368_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47635714_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47643588_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47690313_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47693967_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47710088_?)del
|
|
|
NC_000002.11:g.(?_47630311)_(47630641_?)del
|
|
|
NC_000002.11:g.(?_47630325)_(47643574_?)del
|
|
|
NC_000002.11:g.(?_47630331)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47635062)_(47639709_?)del
|
|
|
NC_000002.11:g.(?_47635062)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47635062)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(47635704_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(48035526_?)del
|
|
|
NC_000002.11:g.(?_47637213)_(47637531_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47639543)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47639762)_(47643852_?)del
|
|
|
NC_000002.11:g.(?_47641398)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47643425)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47698211_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47708020_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47708020_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47690303_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47693787)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47698094)_(47698211_?)del
|
|
|
NC_000002.11:g.(?_47698094)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47702154)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47702154)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47703496)_(47703720_?)del
|
|
|
NC_000002.11:g.(?_47705401)_(47705668_?)dup
|
|
|
NC_000002.11:g.(?_47707825)_(47708020_?)del
|
|
|
NC_000002.11:g.(?_47707825)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47948073)_(48035379_?)del
|
|
|
NC_000002.11:g.(?_47969473)_48033914del
|
|
|
NC_000002.11:g.(?_48010211)_(48033885_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48010652_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48023212_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48028304_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48032176_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48034014_?)del
|
|
|
NC_000002.11:g.(?_48018046)_(48018282_?)del
|
|
|
NC_000002.11:g.(?_48018056)_(48032572_?)del
|
|
|
NC_000002.11:g.(?_48018060)_(48033503_?)del
|
|
|
NC_000002.11:g.(?_48023023)_(48028304_?)del
|
|
|
NC_000002.11:g.(?_48023023)_(48033800_?)del
|
|
|
NC_000002.11:g.(?_48023023)_(48033999_?)del
|
|
|
NC_000002.11:g.(?_48023027)_(48032172_?)del
|
|
|
NC_000002.11:g.(?_48025740)_(48032572_?)del
|
|
|
NC_000002.11:g.(?_48025740)_(48032937_?)del
|
|
|
NC_000002.11:g.(?_48030537)_(48030834_?)del
|
|
|
NC_000002.11:g.(?_48030537)_(48032176_?)del
|
|
|
NC_000002.11:g.(?_48030537)_(48034014_?)del
|
|
|
NC_000002.11:g.38121110_47669522inv
|
|
|
NC_000002.11:g.47470308_47807597del
|
|
|
NC_000002.12:g.(47379970_47385165)_(47387029_?)del
|
|
|
NC_000002.12:g.(47416430_47429741)_(47445658_47463030)del
|
|
|
NC_000002.12:g.(47429942_47445547)_(47445658_47463030)del
|
|
|
NC_000002.12:g.(?_47369148)_(47387028_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47369591_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47379979_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47386623_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47410382_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47426138_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47442436_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47445667_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47471072_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47480881_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47482959_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47369587_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47379975_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47416435_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47429947_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47445663_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47369591_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47386613_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47373453)_(47379979_?)del
|
|
|
NC_000002.12:g.(?_47373453)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47373453)_(47445667_?)del
|
|
|
NC_000002.12:g.(?_47373457)_(47379975_?)del
|
|
|
NC_000002.12:g.(?_47373457)_(47386619_?)del
|
|
|
NC_000002.12:g.(?_47373463)_(47377077_?)del
|
|
|
NC_000002.12:g.(?_47375224)_(47377087_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47377087_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47386623_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47410382_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47377008)_(47386619_?)del
|
|
|
NC_000002.12:g.(?_47377008)_(47410378_?)del
|
|
|
NC_000002.12:g.(?_47377014)_(47377077_?)del
|
|
|
NC_000002.12:g.(?_47378939)_(47386613_?)del
|
|
|
NC_000002.12:g.(?_47378943)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47378953)_(47387028_?)del
|
|
|
NC_000002.12:g.(?_47385055)_(47391097_?)del
|
|
|
NC_000002.12:g.(?_47385156)_(47386613_?)del
|
|
|
NC_000002.12:g.(?_47385156)_(47386623_?)del
|
|
|
NC_000002.12:g.(?_47385156)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47385160)_(47403408_?)del
|
|
|
NC_000002.12:g.(?_47385160)_(47482955_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47414428_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47482981_?)del
|
|
|
NC_000002.12:g.(?_47403066)_(47410373_47412413)del
|
|
|
NC_000002.12:g.(?_47403066)_(47416430_47429741)del
|
|
|
NC_000002.12:g.(?_47403067)_(47403402_?)del
|
|
|
NC_000002.12:g.(?_47403067)_(47408555_?)del
|
|
|
NC_000002.12:g.(?_47403067)_(47483228_?)del
|
|
|
NC_000002.12:g.(?_47403113)_(47416439_?)del
|
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NC_000015.10:g.(?_32679746)_(32702555_?)dup
|
|
|
NC_000015.10:g.(?_32679746)_(32712736_?)dup
|
|
|
NC_000015.9:g.(?_32971947)_(33004759_?)dup
|
|
|
NC_000016.10:g.(?_68737292)_(68738411_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68835537_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68835541_?)del
|
|
|
NC_000016.10:g.(?_68737406)_(68738421_?)del
|
|
|
NC_000016.10:g.(?_68737406)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68737416)_(68738421_?)del
|
|
|
NC_000016.10:g.(?_68737416)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68738291)_(68738417_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68801903_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68801660)_(68801903_?)del
|
|
|
NC_000016.10:g.(?_68801670)_(68801893_?)del
|
|
|
NC_000016.10:g.(?_68808414)_(68829807_?)del
|
|
|
NC_000016.10:g.(?_68815505)_(68815769_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68828314_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68829807_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68828168)_(68829803_?)del
|
|
|
NC_000016.10:g.(?_68833280)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68833284)_(68833505_?)del
|
|
|
NC_000016.10:g.68602418_68796011del
|
|
|
NC_000016.10:g.68815516del
|
rs2152134667
|
|
NC_000016.10:g.68829654del
|
rs2152142199
|
|
NC_000016.9:g.(?_68771319)_(68771376_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68835806_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68772190)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68820946)_(68842761_?)del
|
|
|
NC_000016.9:g.(?_68835563)_(68863710_?)del
|
|
|
NC_000016.9:g.(?_68842321)_(68867407_?)del
|
|
|
NC_000016.9:g.(?_68845577)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68853173)_(68853338_?)del
|
|
|
NC_000016.9:g.(?_68857534)_(68864665_?)del
|
|
|
NC_000016.9:g.(?_68857535)_68864666del
|
|
|
NC_000016.9:g.(?_68861950)_(68863561_?)del
|
|
|
NC_000016.9:g.(?_68863547)_(68867402_?)del
|
|
|
NC_000016.9:g.(?_68867183)_(68867402_?)del
|
|
|
NC_000022.11:g.(?_41131368)_(41140277_?)del
|
|
|
NC_000022.11:g.(?_41151813)_(41152370_?)del
|
|
|
NC_000022.11:g.(?_41154975)_(41164150_?)del
|
|
|
NG_007110.2:g.(?_47707835)_(47708005_?)dup
|
|
|
NG_007111.1:g.2007_15002del
|
|
|
NM_000038.6(APC):c.-2_135+1824del
|
|
|
NM_000038.6(APC):c.-2_136-2903del
|
|
|
NM_000038.6(APC):c.1042C>T (p.Arg348Ter)
|
rs1314843920
|
|
NM_000038.6(APC):c.1046_1140del (p.Gln349fs)
|
rs2149780373
|
|
NM_000038.6(APC):c.1259_1269del (p.Cys420fs)
|
rs2149783399
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1313-2_1743+144del
|
|
|
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1383_1390delinsATGAATGA (p.His462_His464delinsTer)
|
rs2149792567
|
|
NM_000038.6(APC):c.1409-2del
|
rs2149808371
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.1612G>T (p.Glu538Ter)
|
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
NM_000038.6(APC):c.1720G>T (p.Glu574Ter)
|
rs1764024563
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1744-2_1958+1del
|
rs2149840729
|
|
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter)
|
rs1554083122
|
|
NM_000038.6(APC):c.1798del (p.Thr600fs)
|
rs2149841625
|
|
NM_000038.6(APC):c.1809dup (p.Ala604fs)
|
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.194del (p.Gln65fs)
|
rs2149784543
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
NM_000038.6(APC):c.1958G>A (p.Arg653Lys)
|
rs1060503318
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
NM_000038.6(APC):c.203T>G (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)
|
rs1554083998
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
NM_000038.6(APC):c.2487del (p.Val830fs)
|
rs2149870772
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
NM_000038.6(APC):c.2612del (p.Gly871fs)
|
rs1554084299
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2798_2804del (p.Asn933fs)
|
rs2149877627
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2893_2896del (p.Asn965fs)
|
rs2149879574
|
|
NM_000038.6(APC):c.2938A>T (p.Lys980Ter)
|
rs1554084592
|
|
NM_000038.6(APC):c.2950G>T (p.Glu984Ter)
|
rs1254176854
|
|
NM_000038.6(APC):c.3026del (p.His1009fs)
|
rs2149882615
|
|
NM_000038.6(APC):c.3028del (p.Ser1010fs)
|
rs1554084648
|
|
NM_000038.6(APC):c.3079del (p.Tyr1027fs)
|
rs863225337
|
|
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs)
|
rs1554084698
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter)
|
rs1462312032
|
|
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)
|
rs137854571
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.325G>T (p.Glu109Ter)
|
rs1414406816
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3359G>A (p.Gly1120Glu)
|
rs28933379
|
|
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs)
|
rs1554085005
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
NM_000038.6(APC):c.346_359del (p.Gly116fs)
|
rs1554069805
|
|
NM_000038.6(APC):c.3567dup (p.Ser1190fs)
|
rs1554085117
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
NM_000038.6(APC):c.3753_3754del (p.Ser1252fs)
|
rs1765511794
|
|
NM_000038.6(APC):c.3847del (p.Ala1283fs)
|
rs2149900353
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3956del (p.Pro1319fs)
|
rs1057517558
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs)
|
rs1554085479
|
|
NM_000038.6(APC):c.412G>T (p.Glu138Ter)
|
rs1756477033
|
|
NM_000038.6(APC):c.4164_4165del (p.Ser1389fs)
|
rs2149908008
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
NM_000038.6(APC):c.423-3_531+198del
|
rs2149614301
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.4241del (p.Val1414fs)
|
rs1554085659
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs)
|
rs2149914657
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter)
|
rs1114167596
|
|
NM_000038.6(APC):c.458del (p.Lys153fs)
|
rs1554071521
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs)
|
rs1554086196
|
|
NM_000038.6(APC):c.492_495del (p.Asn164fs)
|
rs1554071590
|
|
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs)
|
rs1554086327
|
|
NM_000038.6(APC):c.4dup (p.Ala2fs)
|
|
|
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)
|
rs730881273
|
|
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)
|
rs1270783041
|
|
NM_000038.6(APC):c.5818del (p.Ile1940fs)
|
|
|
NM_000038.6(APC):c.594dup (p.Ala199fs)
|
rs1554072616
|
|
NM_000038.6(APC):c.5978del (p.Pro1993fs)
|
rs1554087123
|
|
NM_000038.6(APC):c.604del (p.Glu202fs)
|
rs2149640346
|
|
NM_000038.6(APC):c.6135del (p.Ala2046fs)
|
rs1554087239
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.6503dup (p.Pro2170fs)
|
|
|
NM_000038.6(APC):c.6907G>T (p.Gly2303Ter)
|
rs544549596
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.8246C>G (p.Ser2749Ter)
|
|
|
NM_000038.6(APC):c.833_834insT (p.Gln278fs)
|
rs2149712600
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.893_894del (p.His298fs)
|
rs1114167567
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
NM_000051.4(ATM):c.1235+2T>C
|
rs2135296157
|
|
NM_000051.4(ATM):c.1238del (p.Leu413fs)
|
rs2080088451
|
|
NM_000051.4(ATM):c.1258del (p.Ile420fs)
|
|
|
NM_000051.4(ATM):c.1347_1348del (p.Glu450fs)
|
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
NM_000051.4(ATM):c.191del (p.Leu64fs)
|
|
|
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
|
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2145del (p.Val716fs)
|
|
|
NM_000051.4(ATM):c.2187C>G (p.Tyr729Ter)
|
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
NM_000051.4(ATM):c.2530G>T (p.Gly844Ter)
|
|
|
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)
|
rs879254046
|
|
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
|
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.270del (p.Arg90fs)
|
|
|
NM_000051.4(ATM):c.2723del (p.Val908fs)
|
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3284+1G>T
|
rs864622129
|
|
NM_000051.4(ATM):c.3394A>T (p.Arg1132Ter)
|
|
|
NM_000051.4(ATM):c.3577-1G>A
|
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3921del (p.Met1308fs)
|
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
NM_000051.4(ATM):c.4143del (p.Pro1382fs)
|
rs730881309
|
|
NM_000051.4(ATM):c.4228A>T (p.Lys1410Ter)
|
|
|
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs)
|
rs1591663236
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4772T>A (p.Leu1591Ter)
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs)
|
|
|
NM_000051.4(ATM):c.4888dup (p.Asp1630fs)
|
|
|
NM_000051.4(ATM):c.5125C>T (p.Gln1709Ter)
|
|
|
NM_000051.4(ATM):c.5170G>T (p.Glu1724Ter)
|
|
|
NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs)
|
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
NM_000051.4(ATM):c.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer)
|
|
|
NM_000051.4(ATM):c.550A>T (p.Arg184Ter)
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5674+1G>A
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5756_5759del (p.Gln1919fs)
|
|
|
NM_000051.4(ATM):c.588del (p.Gly197fs)
|
rs1057516683
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
NM_000051.4(ATM):c.5918+2T>A
|
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
NM_000051.4(ATM):c.6164del (p.Ile2055fs)
|
|
|
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)
|
rs747057367
|
|
NM_000051.4(ATM):c.6820dup (p.Ala2274fs)
|
|
|
NM_000051.4(ATM):c.6910del (p.Glu2304fs)
|
rs1555119940
|
|
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs)
|
rs2136339054
|
|
NM_000051.4(ATM):c.7181C>A (p.Ser2394Ter)
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)
|
rs2086116982
|
|
NM_000051.4(ATM):c.7410_7425del (p.Asn2469_Tyr2470insTer)
|
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
NM_000051.4(ATM):c.7736_7737insC (p.Arg2579fs)
|
rs2136525140
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7928-2A>G
|
rs864622610
|
|
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)
|
rs2086676230
|
|
NM_000051.4(ATM):c.8101del (p.Lys2700_Ile2701insTer)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
NM_000057.4(BLM):c.2680del (p.Tyr894fs)
|
rs1896706358
|
|
NM_000057.4(BLM):c.3254dup (p.Arg1086fs)
|
|
|
NM_000057.4(BLM):c.3600del (p.Lys1200fs)
|
rs1897233241
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.10061del (p.Ser3354fs)
|
rs2073055112
|
|
NM_000059.4(BRCA2):c.10062del (p.Gly3355fs)
|
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.10220_10223del (p.Asn3407fs)
|
rs2137667778
|
|
NM_000059.4(BRCA2):c.1156del (p.Glu386fs)
|
rs397507262
|
|
NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter)
|
rs886040347
|
|
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)
|
rs80358419
|
|
NM_000059.4(BRCA2):c.1278del (p.Asp427fs)
|
rs80359274
|
|
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs)
|
rs80359283
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
rs80358428
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1770del (p.Phe590fs)
|
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.1989del (p.Phe663fs)
|
rs886038068
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.2312del (p.Ile770_Leu771insTer)
|
|
|
NM_000059.4(BRCA2):c.2368del (p.Glu790fs)
|
|
|
NM_000059.4(BRCA2):c.2516_2519del (p.Lys838_Tyr839insTer)
|
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2802del (p.Asp935fs)
|
|
|
NM_000059.4(BRCA2):c.2950del (p.Glu984fs)
|
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.316+2T>C
|
rs81002805
|
|
NM_000059.4(BRCA2):c.3235del (p.Ser1079fs)
|
rs397507660
|
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
rs397507663
|
|
NM_000059.4(BRCA2):c.3481_3482del (p.Asp1161fs)
|
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3572del (p.Lys1191fs)
|
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3940A>T (p.Lys1314Ter)
|
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4339del (p.Ile1446_Val1447insTer)
|
rs80359443
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.4539_4542del (p.Asp1513fs)
|
|
|
NM_000059.4(BRCA2):c.4649_4650del (p.Glu1550fs)
|
rs1593903006
|
|
NM_000059.4(BRCA2):c.475+1G>A
|
rs81002797
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4808dup (p.Asn1603fs)
|
rs80359466
|
|
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)
|
rs1566231194
|
|
NM_000059.4(BRCA2):c.4867C>T (p.Gln1623Ter)
|
|
|
NM_000059.4(BRCA2):c.4888del (p.Ser1630fs)
|
|
|
NM_000059.4(BRCA2):c.4903_4904del (p.Leu1635fs)
|
rs80359471
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.4948del (p.Ser1650fs)
|
rs80359474
|
|
NM_000059.4(BRCA2):c.4952del (p.Pro1651fs)
|
rs397507752
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer)
|
rs80359484
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5217_5224delTTTAAGTA
|
rs80359497
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5279C>A (p.Ser1760Ter)
|
rs80358751
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs)
|
rs80359516
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5598dup (p.Thr1867fs)
|
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)
|
rs55996097
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5773_5774del (p.Gln1925fs)
|
rs2072538071
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
rs80358831
|
|
NM_000059.4(BRCA2):c.6063_6066del (p.His2021fs)
|
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)
|
|
|
NM_000059.4(BRCA2):c.6359C>A (p.Ser2120Ter)
|
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6445dup (p.Ile2149fs)
|
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6461_6473del (p.Tyr2154fs)
|
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)
|
rs80359603
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6620_6623del (p.Thr2207fs)
|
|
|
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)
|
rs1555284779
|
|
NM_000059.4(BRCA2):c.6656C>A (p.Ser2219Ter)
|
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.682-1G>T
|
rs81002831
|
|
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
|
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7415dup (p.Cys2473fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7819_7820del (p.Thr2607fs)
|
rs2137576469
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.793+2T>G
|
rs886040942
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.798del (p.Phe266fs)
|
rs886040739
|
|
NM_000059.4(BRCA2):c.8005A>T (p.Arg2669Ter)
|
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.805dup (p.Thr269fs)
|
rs886040744
|
|
NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter)
|
rs80359058
|
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
rs41293513
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter)
|
rs397507981
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter)
|
rs80359121
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000059.4(BRCA2):c.9648+1G>T
|
|
|
NM_000059.4(BRCA2):c.9800del (p.Lys3267fs)
|
rs1566261027
|
|
NM_000075.4(CDK4):c.279dup (p.Glu94Ter)
|
|
|
NM_000077.5(CDKN2A):c.458-521G>T
|
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1672+1del
|
rs1847174277
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser)
|
rs121918504
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)
|
rs121913105
|
|
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)
|
rs28928868
|
|
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)
|
rs397515514
|
|
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.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000142.5(FGFR3):c.850del (p.His284fs)
|
rs587776836
|
|
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys)
|
rs121913111
|
|
NM_000179.2(MSH6):c.(?_-1)_457+?del
|
|
|
NM_000179.2(MSH6):c.(?_-152)_(*93_?)del
|
|
|
NM_000179.2(MSH6):c.(?_-152)_457+?del
|
|
|
NM_000179.2(MSH6):c.-11863_457+1921del
|
|
|
NM_000179.2(MSH6):c.-3097_457+2010del
|
|
|
NM_000179.2(MSH6):c.261-3237_3735del
|
|
|
NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797
|
|
|
NM_000179.2(MSH6):c.3439-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.3557-?_(*93_?)del
|
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.2(MSH6):c.3738_3759inv (p.His1248_Ser1251delinsAsnGluTrpTer)
|
|
|
NM_000179.2(MSH6):c.3953_3954ins32 (p.?)
|
|
|
NM_000179.2(MSH6):c.458-?_3172+?del
|
|
|
NM_000179.2(MSH6):c.458-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.458-?_4001+?del
|
|
|
NM_000179.2(MSH6):c.458-?_627+?del
|
|
|
NM_000179.3(MSH6):c.-2_260+3387del
|
|
|
NM_000179.3(MSH6):c.1001_1004del (p.Lys334fs)
|
|
|
NM_000179.3(MSH6):c.1010dup (p.Leu337fs)
|
|
|
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)
|
rs1114167804
|
|
NM_000179.3(MSH6):c.1028dup (p.Gln344fs)
|
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
|
rs1669287624
|
|
NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs)
|
rs1553412441
|
|
NM_000179.3(MSH6):c.103_113del (p.Ala35fs)
|
rs1572698011
|
|
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs)
|
rs786202336
|
|
NM_000179.3(MSH6):c.1065_1066del (p.Gly355_Gly356insTer)
|
rs2104317288
|
|
NM_000179.3(MSH6):c.1065dup (p.Gly356fs)
|
|
|
NM_000179.3(MSH6):c.1069_1076del (p.Gly356_Asp357insTer)
|
rs2104317612
|
|
NM_000179.3(MSH6):c.106del (p.Ala36fs)
|
|
|
NM_000179.3(MSH6):c.1085del (p.Pro362fs)
|
rs267608056
|
|
NM_000179.3(MSH6):c.1089dup (p.Val364fs)
|
rs2104318953
|
|
NM_000179.3(MSH6):c.1093_1099dup (p.His367fs)
|
rs1572721655
|
|
NM_000179.3(MSH6):c.1093dup (p.Trp365fs)
|
|
|
NM_000179.3(MSH6):c.1094G>A (p.Trp365Ter)
|
|
|
NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)
|
rs1272484865
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1101del (p.His367fs)
|
rs587779203
|
|
NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)
|
|
|
NM_000179.3(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer)
|
rs1553412502
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1120A>T (p.Lys374Ter)
|
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)
|
|
|
NM_000179.3(MSH6):c.1129_1130del (p.Lys377fs)
|
rs1558660612
|
|
NM_000179.3(MSH6):c.1133_1134del (p.Arg378fs)
|
rs2104321566
|
|
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)
|
rs876660549
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)
|
|
|
NM_000179.3(MSH6):c.1141del (p.Glu381fs)
|
|
|
NM_000179.3(MSH6):c.1145del (p.His382fs)
|
rs1669300332
|
|
NM_000179.3(MSH6):c.114del (p.Ala40fs)
|
rs1558644995
|
|
NM_000179.3(MSH6):c.1150dup (p.Arg384fs)
|
|
|
NM_000179.3(MSH6):c.1153del (p.Arg385fs)
|
|
|
NM_000179.3(MSH6):c.1155_1159dup (p.Asp387fs)
|
|
|
NM_000179.3(MSH6):c.1162dup (p.His388fs)
|
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1173del (p.Phe391fs)
|
|
|
NM_000179.3(MSH6):c.1176_1178delinsGGAA (p.Asp392fs)
|
rs1114167718
|
|
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
|
|
|
NM_000179.3(MSH6):c.1188_1207del (p.Tyr397fs)
|
rs1669305969
|
|
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)
|
rs1553412609
|
|
NM_000179.3(MSH6):c.118del (p.Ala40fs)
|
rs2103936997
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)
|
|
|
NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)
|
rs587779208
|
|
NM_000179.3(MSH6):c.1217_1220delinsATA (p.Cys406fs)
|
|
|
NM_000179.3(MSH6):c.1222_1226del (p.Pro408fs)
|
rs1669309735
|
|
NM_000179.3(MSH6):c.1223del (p.Pro408fs)
|
rs1553412649
|
|
NM_000179.3(MSH6):c.1233_1236del (p.Arg411fs)
|
rs2104329814
|
|
NM_000179.3(MSH6):c.1233dup (p.Lys412fs)
|
rs2104329942
|
|
NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)
|
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1239G>A (p.Trp413Ter)
|
|
|
NM_000179.3(MSH6):c.123_124del (p.Pro42fs)
|
|
|
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)
|
rs587779914
|
|
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
|
rs1007311950
|
|
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)
|
rs1114167756
|
|
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter)
|
rs778555956
|
|
NM_000179.3(MSH6):c.1249_1252del (p.Lys417fs)
|
|
|
NM_000179.3(MSH6):c.1250del (p.Lys417fs)
|
rs2104331064
|
|
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)
|
rs1553412696
|
|
NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)
|
rs762814792
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
NM_000179.3(MSH6):c.1263_1311dup (p.Met438Ter)
|
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
NM_000179.3(MSH6):c.1275_1276del (p.Ile425fs)
|
rs1114167774
|
|
NM_000179.3(MSH6):c.1276del (p.Cys426fs)
|
rs587779209
|
|
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1283dup (p.Val429fs)
|
|
|
NM_000179.3(MSH6):c.1290del (p.Lys431fs)
|
rs587782809
|
|
NM_000179.3(MSH6):c.1295_1296insAA (p.Phe432fs)
|
rs1060502946
|
|
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299del (p.Phe432_Tyr433insTer)
|
rs1553412735
|
|
NM_000179.3(MSH6):c.1300G>T (p.Glu434Ter)
|
|
|
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
|
rs63751405
|
|
NM_000179.3(MSH6):c.1307_1310dup (p.His437fs)
|
rs2104335088
|
|
NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)
|
rs761037236
|
|
NM_000179.3(MSH6):c.1308C>G (p.Tyr436Ter)
|
rs761037236
|
|
NM_000179.3(MSH6):c.1308_1309del (p.Tyr436_His437delinsTer)
|
|
|
NM_000179.3(MSH6):c.1309dup (p.His437fs)
|
rs1558661308
|
|
NM_000179.3(MSH6):c.1312dup (p.Met438fs)
|
rs863225399
|
|
NM_000179.3(MSH6):c.1315_1318del (p.Asp439fs)
|
rs2104335533
|
|
NM_000179.3(MSH6):c.131del (p.Pro44fs)
|
|
|
NM_000179.3(MSH6):c.1323_1324insCAAA (p.Ile442fs)
|
rs1558661368
|
|
NM_000179.3(MSH6):c.1324_1366dup (p.Trp456delinsTyrTrpSerGlnTer)
|
|
|
NM_000179.3(MSH6):c.1324dup (p.Ile442fs)
|
|
|
NM_000179.3(MSH6):c.1326del (p.Ile442fs)
|
rs1558661380
|
|
NM_000179.3(MSH6):c.1328dup (p.Val444fs)
|
rs1553412755
|
|
NM_000179.3(MSH6):c.1333_1334del (p.Val444_Ser445insTer)
|
rs1060502940
|
|
NM_000179.3(MSH6):c.1339dup (p.Leu447fs)
|
rs2104337509
|
|
NM_000179.3(MSH6):c.1345dup (p.Leu449fs)
|
rs2104337976
|
|
NM_000179.3(MSH6):c.1347_1372dup (p.His458delinsArgTyrSerTer)
|
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
|
rs1669323917
|
|
NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)
|
rs587780538
|
|
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)
|
rs1572722737
|
|
NM_000179.3(MSH6):c.136_158del (p.Gly46fs)
|
|
|
NM_000179.3(MSH6):c.1372del (p.His458fs)
|
|
|
NM_000179.3(MSH6):c.1383dup (p.Pro462fs)
|
rs1553412804
|
|
NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)
|
rs864622435
|
|
NM_000179.3(MSH6):c.1390del (p.Ile464fs)
|
|
|
NM_000179.3(MSH6):c.1392del (p.Ile464fs)
|
rs2104340974
|
|
NM_000179.3(MSH6):c.1398_1399insC (p.Gly467fs)
|
|
|
NM_000179.3(MSH6):c.1406del (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1406delinsTG (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1406dup (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1417del (p.Leu473fs)
|
rs1553412824
|
|
NM_000179.3(MSH6):c.1421_1422del (p.Val474fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)
|
rs1553412835
|
|
NM_000179.3(MSH6):c.1426A>T (p.Lys476Ter)
|
|
|
NM_000179.3(MSH6):c.1426_1427insGGGCCGTTATTCAGATTCCCTGGTGCAGA (p.Lys476fs)
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
NM_000179.3(MSH6):c.1437_1446del (p.Val480fs)
|
rs2104343962
|
|
NM_000179.3(MSH6):c.1437del (p.Lys479_Val480insTer)
|
|
|
NM_000179.3(MSH6):c.1438_1441del (p.Val480fs)
|
rs2104344199
|
|
NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)
|
rs1244531716
|
|
NM_000179.3(MSH6):c.1449_1450delinsCT (p.Glu484Ter)
|
|
|
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)
|
rs1114167715
|
|
NM_000179.3(MSH6):c.144_177dup (p.Leu60fs)
|
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)
|
rs1114167750
|
|
NM_000179.3(MSH6):c.1463del (p.Thr488fs)
|
|
|
NM_000179.3(MSH6):c.1468G>T (p.Glu490Ter)
|
|
|
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)
|
rs267608046
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1490_1491del (p.Arg497fs)
|
rs863225400
|
|
NM_000179.3(MSH6):c.1492_1517dup (p.Asp506fs)
|
|
|
NM_000179.3(MSH6):c.1503dup (p.Ile502fs)
|
rs1669339495
|
|
NM_000179.3(MSH6):c.1507_1519dup (p.Arg507delinsIleGlnValTer)
|
|
|
NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)
|
|
|
NM_000179.3(MSH6):c.1512del (p.Lys504fs)
|
rs1572723270
|
|
NM_000179.3(MSH6):c.1515T>A (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.151_167del (p.Ser51fs)
|
|
|
NM_000179.3(MSH6):c.151_167dup (p.Pro57fs)
|
rs1553408267
|
|
NM_000179.3(MSH6):c.1547dup (p.Ile517fs)
|
|
|
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1558_1559insTA (p.Gly520fs)
|
rs2104351513
|
|
NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)
|
|
|
NM_000179.3(MSH6):c.1564_1565del (p.Gln522fs)
|
|
|
NM_000179.3(MSH6):c.1569_1570del (p.Tyr524fs)
|
rs1553412960
|
|
NM_000179.3(MSH6):c.1569_1572del (p.Tyr524fs)
|
rs2104352046
|
|
NM_000179.3(MSH6):c.1570_1571insC (p.Tyr524fs)
|
rs878853709
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
NM_000179.3(MSH6):c.1572del (p.Thr523_Tyr524insTer)
|
|
|
NM_000179.3(MSH6):c.1574_3439-428dup
|
|
|
NM_000179.3(MSH6):c.1577_1578del (p.Val526fs)
|
|
|
NM_000179.3(MSH6):c.1580del (p.Leu527fs)
|
rs63751090
|
|
NM_000179.3(MSH6):c.1586_1587insGATACAGTGTGCTGGAAGG (p.Asp530fs)
|
rs2104352270
|
|
NM_000179.3(MSH6):c.1590del (p.Ser532fs)
|
rs587779216
|
|
NM_000179.3(MSH6):c.1593_1596del (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1594dup (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs)
|
rs1064794388
|
|
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter)
|
rs587779217
|
|
NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)
|
|
|
NM_000179.3(MSH6):c.159_171del (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.1602del (p.Tyr535fs)
|
rs63751234
|
|
NM_000179.3(MSH6):c.1605C>A (p.Tyr535Ter)
|
rs2104354873
|
|
NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)
|
|
|
NM_000179.3(MSH6):c.1606_1607del (p.Tyr535_Ser536insTer)
|
|
|
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter)
|
rs1572723640
|
|
NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)
|
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
|
rs1669352196
|
|
NM_000179.3(MSH6):c.1614T>G (p.Tyr538Ter)
|
rs63750870
|
|
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer)
|
rs267608049
|
|
NM_000179.3(MSH6):c.1614_1615delinsG (p.Tyr538_Leu539delinsTer)
|
rs587779218
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.1619_1620del (p.Leu540fs)
|
rs1553413006
|
|
NM_000179.3(MSH6):c.1626del (p.Glu544fs)
|
rs2104356621
|
|
NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)
|
|
|
NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs)
|
rs587779219
|
|
NM_000179.3(MSH6):c.1630_1633del (p.Glu544fs)
|
rs1572723723
|
|
NM_000179.3(MSH6):c.1630dup (p.Glu544fs)
|
rs1669354866
|
|
NM_000179.3(MSH6):c.1632_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1633A>T (p.Lys545Ter)
|
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
NM_000179.3(MSH6):c.1641dup (p.Asp548fs)
|
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.1646_1649del (p.Ser549fs)
|
|
|
NM_000179.3(MSH6):c.164_177del (p.Pro55fs)
|
rs1558645195
|
|
NM_000179.3(MSH6):c.164_182del (p.Pro55fs)
|
|
|
NM_000179.3(MSH6):c.1658dup (p.Arg554fs)
|
|
|
NM_000179.3(MSH6):c.1661del (p.Arg554fs)
|
rs2104359210
|
|
NM_000179.3(MSH6):c.1664_1674del (p.Ala555fs)
|
|
|
NM_000179.3(MSH6):c.1671dup (p.Val558fs)
|
rs2104359762
|
|
NM_000179.3(MSH6):c.1675_1676dup (p.Phe560fs)
|
rs1669360293
|
|
NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)
|
|
|
NM_000179.3(MSH6):c.1686_1687dup (p.Thr563fs)
|
|
|
NM_000179.3(MSH6):c.1690dup (p.Ser564fs)
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)
|
rs63749973
|
|
NM_000179.3(MSH6):c.1700dup (p.Phe568fs)
|
rs1553413074
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
|
rs1669364351
|
|
NM_000179.3(MSH6):c.170_182del (p.Pro57fs)
|
rs876658296
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter)
|
rs1669365820
|
|
NM_000179.3(MSH6):c.1729del (p.Arg577fs)
|
rs2104363773
|
|
NM_000179.3(MSH6):c.1738del (p.Ser580fs)
|
rs1553413116
|
|
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
|
rs41295270
|
|
NM_000179.3(MSH6):c.1742_1743del (p.Arg581fs)
|
|
|
NM_000179.3(MSH6):c.1746dup (p.Arg583Ter)
|
rs863224474
|
|
NM_000179.3(MSH6):c.1751dup (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1753_1754del (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1754_1772del (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1762_1763insT (p.His588fs)
|
rs1553413138
|
|
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)
|
rs1558662873
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)
|
|
|
NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)
|
|
|
NM_000179.3(MSH6):c.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)
|
rs1553413178
|
|
NM_000179.3(MSH6):c.1794dup (p.Gly599fs)
|
rs587780670
|
|
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)
|
rs756043669
|
|
NM_000179.3(MSH6):c.179dup (p.Leu60fs)
|
|
|
NM_000179.3(MSH6):c.1804_1805del (p.Ser602fs)
|
rs1114167766
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1808dup (p.Glu604fs)
|
rs1553413200
|
|
NM_000179.3(MSH6):c.1809_1813del (p.Lys603fs)
|
|
|
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
|
|
|
NM_000179.3(MSH6):c.1813del (p.Thr605fs)
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1819del (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1819dup (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1828_1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1835C>G (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1835del (p.Ser612fs)
|
rs1669380698
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1844_1848del (p.Cys615fs)
|
|
|
NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)
|
|
|
NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)
|
rs1669384406
|
|
NM_000179.3(MSH6):c.1855del (p.Glu619fs)
|
|
|
NM_000179.3(MSH6):c.1859del (p.Gly620fs)
|
|
|
NM_000179.3(MSH6):c.1866_1869dup (p.Gly624fs)
|
rs2104372607
|
|
NM_000179.3(MSH6):c.1866_1887del (p.Ile622fs)
|
|
|
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
|
rs2104372581
|
|
NM_000179.3(MSH6):c.1869del (p.Gly624fs)
|
rs71539659
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)
|
rs1553413253
|
|
NM_000179.3(MSH6):c.1882del (p.Trp628fs)
|
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.1900_1901del (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)
|
rs63751097
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1901dup (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs)
|
rs1669391378
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1918G>T (p.Glu640Ter)
|
rs1669393906
|
|
NM_000179.3(MSH6):c.1918del (p.Glu640fs)
|
|
|
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)
|
rs1553413305
|
|
NM_000179.3(MSH6):c.1923del (p.Glu641fs)
|
rs869040863
|
|
NM_000179.3(MSH6):c.1926_1930del (p.Tyr642_Arg644delinsTer)
|
rs2104376613
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
|
rs1669395325
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
NM_000179.3(MSH6):c.1937del (p.Lys646fs)
|
rs1114167747
|
|
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
|
rs2104377567
|
|
NM_000179.3(MSH6):c.193_196delinsCTT (p.Ser65fs)
|
|
|
NM_000179.3(MSH6):c.1940dup (p.Ser648fs)
|
|
|
NM_000179.3(MSH6):c.1944dup (p.Asp649Ter)
|
rs2104378017
|
|
NM_000179.3(MSH6):c.1946dup (p.Asp649fs)
|
|
|
NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
|
rs63751167
|
|
NM_000179.3(MSH6):c.1965dup (p.Pro656fs)
|
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
NM_000179.3(MSH6):c.1975_1976insCT (p.Leu659fs)
|
|
|
NM_000179.3(MSH6):c.1977dup (p.Lys660Ter)
|
|
|
NM_000179.3(MSH6):c.1982del (p.Gly661fs)
|
rs2104380327
|
|
NM_000179.3(MSH6):c.1990dup (p.Ser664fs)
|
|
|
NM_000179.3(MSH6):c.1991_1992del (p.Thr663_Ser664insTer)
|
rs2104380945
|
|
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)
|
rs1333555322
|
|
NM_000179.3(MSH6):c.1994_1995del (p.Glu665fs)
|
rs1114167694
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
NM_000179.3(MSH6):c.1A>G (p.Met1Val)
|
rs2103930478
|
|
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer)
|
rs1060502918
|
|
NM_000179.3(MSH6):c.2020_2057del (p.Gly674fs)
|
|
|
NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs)
|
rs1558663954
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
NM_000179.3(MSH6):c.202A>T (p.Lys68Ter)
|
|
|
NM_000179.3(MSH6):c.2032G>T (p.Glu678Ter)
|
rs751778243
|
|
NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)
|
|
|
NM_000179.3(MSH6):c.2036_2042delinsGG (p.Leu679fs)
|
rs876658864
|
|
NM_000179.3(MSH6):c.203del (p.Lys68fs)
|
|
|
NM_000179.3(MSH6):c.2041del (p.Leu681fs)
|
rs1572725436
|
|
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)
|
rs267608057
|
|
NM_000179.3(MSH6):c.2050_2051dup (p.Leu684_Gly685insTer)
|
rs587779226
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2059dup (p.Cys687fs)
|
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2062_2147del (p.Val688fs)
|
|
|
NM_000179.3(MSH6):c.2067del (p.Tyr690fs)
|
|
|
NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)
|
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)
|
rs1114167791
|
|
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs)
|
rs1114167733
|
|
NM_000179.3(MSH6):c.2089del (p.Asp697fs)
|
rs863224475
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter)
|
rs1553413470
|
|
NM_000179.3(MSH6):c.2100_2105delinsA (p.Leu701fs)
|
|
|
NM_000179.3(MSH6):c.2102dup (p.Leu701fs)
|
rs2104388702
|
|
NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter)
|
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2118del (p.Phe706fs)
|
rs1572725803
|
|
NM_000179.3(MSH6):c.2119dup (p.Glu707fs)
|
|
|
NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)
|
rs1064795960
|
|
NM_000179.3(MSH6):c.2125dup (p.Tyr709fs)
|
rs587781650
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
NM_000179.3(MSH6):c.2128del (p.Ile710fs)
|
rs2104390119
|
|
NM_000179.3(MSH6):c.2137del (p.Asp713fs)
|
rs864622257
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2159del (p.Thr720fs)
|
|
|
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)
|
rs1553408380
|
|
NM_000179.3(MSH6):c.2161A>T (p.Arg721Ter)
|
rs537604099
|
|
NM_000179.3(MSH6):c.2188dup (p.Tyr730fs)
|
|
|
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2195del (p.Arg732fs)
|
|
|
NM_000179.3(MSH6):c.2199_2200del (p.Met733fs)
|
|
|
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)
|
rs745483465
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2238dup (p.Leu747fs)
|
rs1553413599
|
|
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)
|
rs1572726309
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2263G>T (p.Glu755Ter)
|
|
|
NM_000179.3(MSH6):c.2263_2273del (p.Glu755fs)
|
|
|
NM_000179.3(MSH6):c.2265del (p.Gly756fs)
|
rs1669441162
|
|
NM_000179.3(MSH6):c.2268_2274del (p.Gly756_Thr757insTer)
|
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2275del (p.Leu758_Leu759insTer)
|
|
|
NM_000179.3(MSH6):c.2275dup (p.Leu759fs)
|
rs2104397838
|
|
NM_000179.3(MSH6):c.2276T>C (p.Leu759Pro)
|
rs1553413655
|
|
NM_000179.3(MSH6):c.2277_2281dup (p.Arg761fs)
|
rs1572726468
|
|
NM_000179.3(MSH6):c.2279_2283dup (p.Val762fs)
|
rs2104398078
|
|
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)
|
rs1114167721
|
|
NM_000179.3(MSH6):c.2284del (p.Val762fs)
|
rs2104398285
|
|
NM_000179.3(MSH6):c.2284dup (p.Val762fs)
|
|
|
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
|
|
|
NM_000179.3(MSH6):c.2290dup (p.Thr764fs)
|
rs1553413663
|
|
NM_000179.3(MSH6):c.2291del (p.Thr764fs)
|
|
|
NM_000179.3(MSH6):c.2294dup (p.Cys765fs)
|
rs1553413673
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2296dup (p.His766fs)
|
rs1114167712
|
|
NM_000179.3(MSH6):c.2298_2299del (p.Thr767fs)
|
|
|
NM_000179.3(MSH6):c.2299_2304del (p.Thr767_Pro768del)
|
rs1669445829
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2308_2311del (p.Gly770fs)
|
rs2104399944
|
|
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)
|
rs864622585
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)
|
rs1553413693
|
|
NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)
|
|
|
NM_000179.3(MSH6):c.2329_2330insA (p.Trp777Ter)
|
|
|
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)
|
rs587779234
|
|
NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)
|
rs876660037
|
|
NM_000179.3(MSH6):c.2332_2335dup (p.Cys779fs)
|
|
|
NM_000179.3(MSH6):c.2335dup (p.Cys779fs)
|
rs2104401401
|
|
NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)
|
rs1553413707
|
|
NM_000179.3(MSH6):c.2338_2339del (p.Ala780fs)
|
|
|
NM_000179.3(MSH6):c.233_254dup (p.Thr86fs)
|
rs1553408413
|
|
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser)
|
rs587779235
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
NM_000179.3(MSH6):c.2346_2347del (p.Leu782_Cys783insTer)
|
rs1669451548
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs)
|
rs1553413717
|
|
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)
|
rs876661193
|
|
NM_000179.3(MSH6):c.2364dup (p.Asn789Ter)
|
|
|
NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)
|
|
|
NM_000179.3(MSH6):c.2371_2372insAGAC (p.Arg791fs)
|
rs1553413732
|
|
NM_000179.3(MSH6):c.2379_2380del (p.Ala794fs)
|
rs587779237
|
|
NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)
|
rs1558665297
|
|
NM_000179.3(MSH6):c.2386_2387del (p.Glu796fs)
|
|
|
NM_000179.3(MSH6):c.238G>A (p.Val80Ile)
|
|
|
NM_000179.3(MSH6):c.2403dup (p.Pro802fs)
|
|
|
NM_000179.3(MSH6):c.2412_2413del (p.Lys804fs)
|
rs2104405276
|
|
NM_000179.3(MSH6):c.2413dup (p.Ile805fs)
|
rs2104405276
|
|
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)
|
rs587779923
|
|
NM_000179.3(MSH6):c.2419dup (p.Glu807fs)
|
rs1553413784
|
|
NM_000179.3(MSH6):c.2420_2421del (p.Glu807fs)
|
|
|
NM_000179.3(MSH6):c.2428G>T (p.Glu810Ter)
|
|
|
NM_000179.3(MSH6):c.2429del (p.Glu810fs)
|
rs1572727176
|
|
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
|
|
|
NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)
|
|
|
NM_000179.3(MSH6):c.2441dup (p.Leu815fs)
|
|
|
NM_000179.3(MSH6):c.2447del (p.Pro816fs)
|
|
|
NM_000179.3(MSH6):c.246dup (p.Ala83fs)
|
rs1668136752
|
|
NM_000179.3(MSH6):c.2473del (p.Ile825fs)
|
rs1669467747
|
|
NM_000179.3(MSH6):c.2495del (p.Leu832fs)
|
|
|
NM_000179.3(MSH6):c.2497_2498del (p.Lys833fs)
|
|
|
NM_000179.3(MSH6):c.2497_2501del (p.Lys833fs)
|
|
|
NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2500_2501del (p.Gln835fs)
|
rs1064794164
|
|
NM_000179.3(MSH6):c.2502_2515del (p.Ser834fs)
|
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2521del (p.Arg841fs)
|
rs1114167771
|
|
NM_000179.3(MSH6):c.2525del (p.Ala842fs)
|
|
|
NM_000179.3(MSH6):c.2530_2534del (p.Ile843_Met844insTer)
|
|
|
NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2536_2537insT (p.Glu846fs)
|
|
|
NM_000179.3(MSH6):c.2539G>T (p.Glu847Ter)
|
|
|
NM_000179.3(MSH6):c.2544dup (p.Thr849fs)
|
|
|
NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2552_2607del (p.Ser851fs)
|
rs1669478924
|
|
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn)
|
rs765873566
|
|
NM_000179.3(MSH6):c.255del (p.Thr86fs)
|
rs1064793183
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2574del (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2574dup (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2577_2580del (p.Ser860fs)
|
|
|
NM_000179.3(MSH6):c.2580del (p.Ala861fs)
|
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2602dup (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2603del (p.Met868fs)
|
rs1669486855
|
|
NM_000179.3(MSH6):c.2607_2617del (p.Cys869fs)
|
|
|
NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)
|
|
|
NM_000179.3(MSH6):c.261-1G>A
|
|
|
NM_000179.3(MSH6):c.2610_2611dup (p.Ile871fs)
|
rs1669487701
|
|
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)
|
rs63750357
|
|
NM_000179.3(MSH6):c.2615_2616del (p.Ile872fs)
|
|
|
NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs)
|
rs1114167749
|
|
NM_000179.3(MSH6):c.2622del (p.Met875fs)
|
|
|
NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)
|
|
|
NM_000179.3(MSH6):c.263dup (p.Cys88fs)
|
|
|
NM_000179.3(MSH6):c.2641_2642delinsA (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2642del (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)
|
rs876660630
|
|
NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)
|
rs1669491751
|
|
NM_000179.3(MSH6):c.264T>A (p.Cys88Ter)
|
rs2104098243
|
|
NM_000179.3(MSH6):c.2652dup (p.Lys885Ter)
|
|
|
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2662A>T (p.Lys888Ter)
|
rs1572728039
|
|
NM_000179.3(MSH6):c.2662_2663del (p.Lys888fs)
|
rs1669493890
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2665dup (p.Gln889fs)
|
rs1553413985
|
|
NM_000179.3(MSH6):c.2668del (p.Val890fs)
|
|
|
NM_000179.3(MSH6):c.2672_2674delinsC (p.Ile891fs)
|
rs587779244
|
|
NM_000179.3(MSH6):c.2675_2678del (p.Ser892fs)
|
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)
|
rs878853718
|
|
NM_000179.3(MSH6):c.2687_2690del (p.Lys896fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs)
|
rs1669498074
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2693del (p.Pro898fs)
|
rs1553414022
|
|
NM_000179.3(MSH6):c.2697_2698insT (p.Gly900fs)
|
|
|
NM_000179.3(MSH6):c.2701dup (p.Arg901fs)
|
rs2104419943
|
|
NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)
|
rs587779245
|
|
NM_000179.3(MSH6):c.2714del (p.Asp904_Leu905insTer)
|
|
|
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)
|
rs63750904
|
|
NM_000179.3(MSH6):c.2728_2735del (p.Asn910fs)
|
|
|
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)
|
rs1060502876
|
|
NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2738del (p.Asp913fs)
|
|
|
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs)
|
rs1553414092
|
|
NM_000179.3(MSH6):c.2739_2742dup (p.Ala915fs)
|
|
|
NM_000179.3(MSH6):c.2748dup (p.Asp917Ter)
|
rs1553414102
|
|
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)
|
rs1669506824
|
|
NM_000179.3(MSH6):c.2752del (p.His918fs)
|
|
|
NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)
|
rs2104422674
|
|
NM_000179.3(MSH6):c.2759_2768dup (p.Thr924fs)
|
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2759dup (p.Ala921fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2765del (p.Arg922fs)
|
rs587779247
|
|
NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)
|
|
|
NM_000179.3(MSH6):c.2768dup (p.Thr924fs)
|
rs267608063
|
|
NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs)
|
rs1553414131
|
|
NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)
|
|
|
NM_000179.3(MSH6):c.2778_2784del (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2778dup (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)
|
|
|
NM_000179.3(MSH6):c.2799dup (p.Asp934Ter)
|
rs2104424562
|
|
NM_000179.3(MSH6):c.2804_2805del (p.Asp934_Ser935insTer)
|
rs878853721
|
|
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)
|
rs863225403
|
|
NM_000179.3(MSH6):c.2805_2806insTT (p.Asp936fs)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2806_2809del (p.Asp936fs)
|
|
|
NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)
|
|
|
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)
|
rs63750140
|
|
NM_000179.3(MSH6):c.2830del (p.Asp943_Ile944insTer)
|
|
|
NM_000179.3(MSH6):c.2831_2832del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2831_2835del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.2834_2845delinsA (p.Arg945fs)
|
|
|
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs)
|
|
|
NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter)
|
rs1572728898
|
|
NM_000179.3(MSH6):c.2843_2846del (p.Glu948fs)
|
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2845_2846del (p.Gln949fs)
|
rs1572728922
|
|
NM_000179.3(MSH6):c.2845dup (p.Gln949fs)
|
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)
|
rs63750940
|
|
NM_000179.3(MSH6):c.2857G>T (p.Glu953Ter)
|
|
|
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)
|
rs1114167714
|
|
NM_000179.3(MSH6):c.2866_2869del (p.Glu956fs)
|
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2872_2873dup (p.Gln958fs)
|
|
|
NM_000179.3(MSH6):c.2873_2874del (p.Gln958fs)
|
rs1553414239
|
|
NM_000179.3(MSH6):c.2873del (p.Gln958fs)
|
rs1572729033
|
|
NM_000179.3(MSH6):c.2883_2886dup (p.Gly963fs)
|
|
|
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)
|
rs1482228994
|
|
NM_000179.3(MSH6):c.2892dup (p.Arg965Ter)
|
|
|
NM_000179.3(MSH6):c.2897_2898dup (p.Ile967fs)
|
rs2104429347
|
|
NM_000179.3(MSH6):c.2900_2901del (p.Ile967fs)
|
|
|
NM_000179.3(MSH6):c.2902dup (p.Val968fs)
|
rs1572729161
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)
|
|
|
NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)
|
|
|
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)
|
rs765411990
|
|
NM_000179.3(MSH6):c.2913dup (p.Ile972fs)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2916del (p.Ile972fs)
|
rs2104430494
|
|
NM_000179.3(MSH6):c.2916dup (p.Gly973fs)
|
|
|
NM_000179.3(MSH6):c.2920del (p.Arg974fs)
|
rs1558667222
|
|
NM_000179.3(MSH6):c.2924_2927del (p.Asn975fs)
|
|
|
NM_000179.3(MSH6):c.2926_2929dup (p.Tyr977fs)
|
|
|
NM_000179.3(MSH6):c.2927del (p.Arg976fs)
|
|
|
NM_000179.3(MSH6):c.292_301del (p.Ala98fs)
|
rs1572708580
|
|
NM_000179.3(MSH6):c.2930dup (p.Tyr977Ter)
|
rs1669529094
|
|
NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)
|
rs2104431856
|
|
NM_000179.3(MSH6):c.2938del (p.Glu980fs)
|
rs2104431813
|
|
NM_000179.3(MSH6):c.2940_2941dup (p.Ile981fs)
|
|
|
NM_000179.3(MSH6):c.2943del (p.Pro982fs)
|
|
|
NM_000179.3(MSH6):c.2943dup (p.Pro982fs)
|
rs2104432135
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.2955del (p.Phe985fs)
|
|
|
NM_000179.3(MSH6):c.2961dup (p.Arg988fs)
|
rs1669532554
|
|
NM_000179.3(MSH6):c.2964dup (p.Asn989fs)
|
rs587781659
|
|
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)
|
rs774755404
|
|
NM_000179.3(MSH6):c.2976del (p.Glu993fs)
|
rs587779251
|
|
NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)
|
rs367758473
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2984del (p.Glu995fs)
|
rs63749938
|
|
NM_000179.3(MSH6):c.2988del (p.Lys997fs)
|
|
|
NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.2991del (p.Lys997fs)
|
rs1060502890
|
|
NM_000179.3(MSH6):c.2993del (p.Ser998fs)
|
|
|
NM_000179.3(MSH6):c.2999del (p.Lys1000fs)
|
|
|
NM_000179.3(MSH6):c.3002del (p.Lys1001fs)
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018del (p.Trp1007fs)
|
rs1669539415
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)
|
rs587779253
|
|
NM_000179.3(MSH6):c.3021del (p.Tyr1006_Trp1007insTer)
|
rs587782862
|
|
NM_000179.3(MSH6):c.3028del (p.Thr1010fs)
|
rs1114167773
|
|
NM_000179.3(MSH6):c.302_305dup (p.Tyr103fs)
|
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3038dup (p.Lys1014fs)
|
|
|
NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)
|
|
|
NM_000179.3(MSH6):c.3051_3052insA (p.Leu1018fs)
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3057_3060del (p.Ile1019fs)
|
|
|
NM_000179.3(MSH6):c.3059dup (p.Asn1020fs)
|
|
|
NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)
|
rs1114167724
|
|
NM_000179.3(MSH6):c.3064del (p.Glu1022fs)
|
rs2104438511
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3078dup (p.Val1027fs)
|
rs1572730002
|
|
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs)
|
rs1572730021
|
|
NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3089_3092del (p.Lys1030fs)
|
rs1553414488
|
|
NM_000179.3(MSH6):c.3091dup (p.Asp1031fs)
|
rs1572730065
|
|
NM_000179.3(MSH6):c.3097_3100del (p.Met1033fs)
|
rs1553414498
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3109_3112del (p.Phe1037fs)
|
rs1558668156
|
|
NM_000179.3(MSH6):c.3110_3111insA (p.Phe1037fs)
|
|
|
NM_000179.3(MSH6):c.3111del (p.Tyr1038fs)
|
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3121_3133del (p.Asp1041fs)
|
|
|
NM_000179.3(MSH6):c.3128dup (p.Asn1043fs)
|
|
|
NM_000179.3(MSH6):c.3132C>A (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3137_3138del (p.Asp1046fs)
|
rs1558668258
|
|
NM_000179.3(MSH6):c.3139del (p.Trp1047fs)
|
rs1114167782
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)
|
rs1553414554
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3147_3150dup (p.Val1051fs)
|
|
|
NM_000179.3(MSH6):c.3149del (p.Ala1050fs)
|
rs1060502882
|
|
NM_000179.3(MSH6):c.314G>A (p.Trp105Ter)
|
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs)
|
rs2104443138
|
|
NM_000179.3(MSH6):c.3159T>A (p.Cys1053Ter)
|
rs767021188
|
|
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)
|
rs1553414578
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)
|
rs778741297
|
|
NM_000179.3(MSH6):c.3172+1G>A
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+2T>G
|
rs1299958102
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-14_3173-3del
|
rs1553331228
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
NM_000179.3(MSH6):c.3173-433_3556+228del
|
|
|
NM_000179.3(MSH6):c.3179del (p.Leu1060fs)
|
|
|
NM_000179.3(MSH6):c.317G>A (p.Trp106Ter)
|
|
|
NM_000179.3(MSH6):c.3182del (p.Leu1061fs)
|
rs63750196
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3189_3192dup (p.Asn1065delinsGlyTer)
|
|
|
NM_000179.3(MSH6):c.3190_3192delinsCC (p.Ala1064fs)
|
|
|
NM_000179.3(MSH6):c.3190_3224dup (p.Cys1075fs)
|
|
|
NM_000179.3(MSH6):c.3190del (p.Ala1064fs)
|
rs2104472117
|
|
NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs)
|
rs2104472237
|
|
NM_000179.3(MSH6):c.3195_3198del (p.Asn1065fs)
|
rs267608085
|
|
NM_000179.3(MSH6):c.3198T>A (p.Tyr1066Ter)
|
rs199643502
|
|
NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)
|
|
|
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3209del (p.Gly1070fs)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3209dup (p.Gly1070_Asp1071insTer)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
NM_000179.3(MSH6):c.3218dup (p.Met1074fs)
|
|
|
NM_000179.3(MSH6):c.3219dup (p.Met1074fs)
|
|
|
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)
|
rs1553331290
|
|
NM_000179.3(MSH6):c.3221del (p.Met1074fs)
|
rs267608090
|
|
NM_000179.3(MSH6):c.3223dup (p.Cys1075fs)
|
rs1572735072
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3226dup (p.Arg1076fs)
|
rs1553331304
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3238del (p.Leu1080fs)
|
rs1553331337
|
|
NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)
|
rs763844573
|
|
NM_000179.3(MSH6):c.3247del (p.Glu1083fs)
|
|
|
NM_000179.3(MSH6):c.3252dup (p.Thr1085fs)
|
rs1553331366
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)
|
rs1114167705
|
|
NM_000179.3(MSH6):c.3255_3256delinsA (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3258_3259insT (p.Pro1087fs)
|
|
|
NM_000179.3(MSH6):c.3259_3260insT (p.Pro1087fs)
|
rs587779258
|
|
NM_000179.3(MSH6):c.3260_3261del (p.Pro1087fs)
|
|
|
NM_000179.3(MSH6):c.3260_3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3260_3261insT (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3261_3262del (p.Phe1088fs)
|
rs1669747095
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3263del (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3263dup (p.Glu1090fs)
|
rs267608091
|
|
NM_000179.3(MSH6):c.3266T>G (p.Leu1089Ter)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3266_3273dup (p.Lys1092Ter)
|
rs2104476971
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3273dup (p.Lys1092Ter)
|
rs267608095
|
|
NM_000179.3(MSH6):c.3276del (p.Gly1093fs)
|
|
|
NM_000179.3(MSH6):c.3276dup (p.Gly1093fs)
|
rs1558387361
|
|
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)
|
|
|
NM_000179.3(MSH6):c.3281dup (p.Arg1095fs)
|
rs1553331454
|
|
NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)
|
|
|
NM_000179.3(MSH6):c.3301_3302del (p.Lys1101fs)
|
|
|
NM_000179.3(MSH6):c.3305_3306insA (p.Gly1105fs)
|
|
|
NM_000179.3(MSH6):c.3306_3307delinsA (p.Phe1104fs)
|
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3313_3344del (p.Gly1105fs)
|
|
|
NM_000179.3(MSH6):c.331del (p.Tyr111fs)
|
|
|
NM_000179.3(MSH6):c.3320del (p.Asp1107fs)
|
rs63750377
|
|
NM_000179.3(MSH6):c.3324dup (p.Ile1109fs)
|
rs267608088
|
|
NM_000179.3(MSH6):c.3329del (p.Pro1110fs)
|
|
|
NM_000179.3(MSH6):c.3330_3331insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGTCGGGGGGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTGGAGATGATTTTATTCCT (p.Asn1111delinsPhePhePhePhePhePheXaaXaaXaaXaaProValGlyGlyAlaGlyLeuAlaGluGlyLeuLeuThrSerGlnTer)
|
rs2104479515
|
|
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
NM_000179.3(MSH6):c.3337del (p.Ile1113fs)
|
rs2104480974
|
|
NM_000179.3(MSH6):c.3338_3342dup (p.Ile1115delinsPheTer)
|
rs1669760609
|
|
NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)
|
rs786202772
|
|
NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs)
|
rs587779260
|
|
NM_000179.3(MSH6):c.3351_3352del (p.Cys1117_Glu1118delinsTer)
|
|
|
NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)
|
rs267608084
|
|
NM_000179.3(MSH6):c.3355del (p.Glu1119fs)
|
|
|
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)
|
rs1114167695
|
|
NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)
|
rs1114167793
|
|
NM_000179.3(MSH6):c.3361G>T (p.Glu1121Ter)
|
rs587781609
|
|
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
|
|
|
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)
|
rs267608086
|
|
NM_000179.3(MSH6):c.3367del (p.Glu1123fs)
|
rs2104482609
|
|
NM_000179.3(MSH6):c.3371del (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3377_3378del (p.Lys1126fs)
|
rs1553331665
|
|
NM_000179.3(MSH6):c.3378del (p.Ala1127fs)
|
|
|
NM_000179.3(MSH6):c.3378dup (p.Ala1127fs)
|
rs1553331665
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3381_3382insATTTCCTTGT (p.Tyr1128fs)
|
|
|
NM_000179.3(MSH6):c.3383_3384dup (p.Cys1129fs)
|
rs1572735943
|
|
NM_000179.3(MSH6):c.3386del (p.Cys1129fs)
|
|
|
NM_000179.3(MSH6):c.3393del (p.Val1132fs)
|
rs2104484216
|
|
NM_000179.3(MSH6):c.3398del (p.Thr1133fs)
|
rs1553331722
|
|
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
|
rs1669770252
|
|
NM_000179.3(MSH6):c.3399delinsGTA (p.Thr1133_Gly1134insTer)
|
|
|
NM_000179.3(MSH6):c.3401dup (p.Pro1135fs)
|
|
|
NM_000179.3(MSH6):c.3403_3407del (p.Pro1135fs)
|
|
|
NM_000179.3(MSH6):c.3404dup (p.Asn1136fs)
|
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3417del (p.Lys1140fs)
|
rs1572736122
|
|
NM_000179.3(MSH6):c.3419dup (p.Ser1141fs)
|
rs1572736128
|
|
NM_000179.3(MSH6):c.3424del (p.Thr1142fs)
|
rs2104486214
|
|
NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)
|
|
|
NM_000179.3(MSH6):c.3435del (p.Arg1145fs)
|
rs863224476
|
|
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)
|
rs63750356
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2A>T
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2_3556+1del
|
rs2104503689
|
|
NM_000179.3(MSH6):c.3443del (p.Gly1148fs)
|
rs1553332151
|
|
NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)
|
|
|
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.3450dup (p.Ala1151fs)
|
rs2104504315
|
|
NM_000179.3(MSH6):c.3458_3459insTA (p.Met1153fs)
|
|
|
NM_000179.3(MSH6):c.345del (p.Phe115fs)
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs)
|
rs2104504931
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3475del (p.Tyr1159fs)
|
rs1572738533
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3483_3502del (p.Ala1162fs)
|
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3486dup (p.Glu1163Ter)
|
|
|
NM_000179.3(MSH6):c.3487del (p.Glu1163fs)
|
|
|
NM_000179.3(MSH6):c.3491_3492insA (p.Cys1165fs)
|
rs2104506737
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3498del (p.Arg1166fs)
|
|
|
NM_000179.3(MSH6):c.3506_3524del (p.Pro1169fs)
|
rs2104507417
|
|
NM_000179.3(MSH6):c.3508_3509del (p.Pro1169_Ile1170insTer)
|
rs2104507605
|
|
NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)
|
rs1473648816
|
|
NM_000179.3(MSH6):c.350del (p.Gly117fs)
|
|
|
NM_000179.3(MSH6):c.3510_3511insTAA (p.Asp1171Ter)
|
rs1669874125
|
|
NM_000179.3(MSH6):c.3510_3513del (p.Asp1171fs)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3510_3513dup (p.Arg1172Ter)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3511_3512del (p.Ile1170_Asp1171insTer)
|
rs63751410
|
|
NM_000179.3(MSH6):c.3511del (p.Asp1171fs)
|
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3514_3515insT (p.Arg1172fs)
|
|
|
NM_000179.3(MSH6):c.3515_3516insTGTTTACTAGACAG (p.Arg1172delinsSerValTyrTer)
|
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3516_3517dup (p.Val1173fs)
|
|
|
NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)
|
rs267608099
|
|
NM_000179.3(MSH6):c.3518_3519insA (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3518dup (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3519_3520del (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3519_3520insA (p.Phe1174fs)
|
rs63750296
|
|
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs)
|
rs267608101
|
|
NM_000179.3(MSH6):c.3520_3521insGTAA (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3522_3523insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATAGAGTGTTT (p.Thr1175delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000179.3(MSH6):c.3522_3524delinsAT (p.Phe1174fs)
|
rs1572738865
|
|
NM_000179.3(MSH6):c.3523del (p.Thr1175fs)
|
|
|
NM_000179.3(MSH6):c.3524_3525del (p.Thr1175fs)
|
rs2104508780
|
|
NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)
|
rs786203968
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3531_3538del (p.Gly1178fs)
|
rs2104509127
|
|
NM_000179.3(MSH6):c.3533del (p.Gly1178fs)
|
rs2104509253
|
|
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)
|
rs766905993
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3545_3546del (p.Arg1182fs)
|
|
|
NM_000179.3(MSH6):c.354_355del (p.Phe119fs)
|
rs1668692410
|
|
NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)
|
|
|
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)
|
rs1572739043
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
NM_000179.3(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer)
|
rs1553332312
|
|
NM_000179.3(MSH6):c.3556+1G>A
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1G>C
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1G>T
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
NM_000179.3(MSH6):c.3556+2T>C
|
rs1669882321
|
|
NM_000179.3(MSH6):c.3556+2_3556+3insTT
|
rs1572739097
|
|
NM_000179.3(MSH6):c.3556+4_3556+8del
|
rs1572739119
|
|
NM_000179.3(MSH6):c.3560_3563del (p.Glu1187fs)
|
rs2104521805
|
|
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs)
|
rs891318615
|
|
NM_000179.3(MSH6):c.3562_3565dup (p.Thr1189fs)
|
rs786203331
|
|
NM_000179.3(MSH6):c.3562del (p.Ser1188fs)
|
rs1553332622
|
|
NM_000179.3(MSH6):c.356del (p.Phe119fs)
|
|
|
NM_000179.3(MSH6):c.356dup (p.Ile120fs)
|
rs1114167776
|
|
NM_000179.3(MSH6):c.3573del (p.Phe1191fs)
|
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)
|
|
|
NM_000179.3(MSH6):c.3577_3580dup (p.Leu1194Ter)
|
rs773262801
|
|
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)
|
rs1060502881
|
|
NM_000179.3(MSH6):c.3577del (p.Glu1193fs)
|
rs1114167755
|
|
NM_000179.3(MSH6):c.3581T>A (p.Leu1194Ter)
|
|
|
NM_000179.3(MSH6):c.3582_3585dup (p.Glu1196delinsLysTer)
|
|
|
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)
|
rs75095286
|
|
NM_000179.3(MSH6):c.3587_3627dup (p.Val1210fs)
|
|
|
NM_000179.3(MSH6):c.3600_3601del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3600_3609del (p.Ile1200fs)
|
|
|
NM_000179.3(MSH6):c.3600dup (p.Leu1201fs)
|
rs2104524165
|
|
NM_000179.3(MSH6):c.3601_3620del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3602_3614del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3605_3614del (p.Met1202fs)
|
|
|
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3609del (p.His1203fs)
|
rs2104524646
|
|
NM_000179.3(MSH6):c.3611del (p.Ala1204fs)
|
rs2104524766
|
|
NM_000179.3(MSH6):c.3611dup (p.Thr1205fs)
|
|
|
NM_000179.3(MSH6):c.3615dup (p.Ala1206fs)
|
rs2104525000
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
NM_000179.3(MSH6):c.3622del (p.Ser1208fs)
|
|
|
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)
|
rs1553332733
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.362del (p.Arg121fs)
|
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
NM_000179.3(MSH6):c.3633_3646dup (p.Gly1216delinsValTrpMetAsnTer)
|
rs1572742114
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3634_3644del (p.Val1212fs)
|
rs2104525933
|
|
NM_000179.3(MSH6):c.3635dup (p.Asp1213fs)
|
rs63750731
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_000179.3(MSH6):c.3642dup (p.Leu1215fs)
|
|
|
NM_000179.3(MSH6):c.3645_3646dup (p.Gly1216fs)
|
|
|
NM_000179.3(MSH6):c.3646+1G>A
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3649_3655del (p.Arg1217fs)
|
rs2104536532
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3653dup (p.Thr1219fs)
|
rs2104536807
|
|
NM_000179.3(MSH6):c.3654_3657del (p.Thr1219fs)
|
|
|
NM_000179.3(MSH6):c.3655_3658delinsCC (p.Thr1219fs)
|
rs1670040394
|
|
NM_000179.3(MSH6):c.3657dup (p.Ala1220fs)
|
|
|
NM_000179.3(MSH6):c.3672del (p.Thr1225fs)
|
rs2104537929
|
|
NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)
|
rs1553332996
|
|
NM_000179.3(MSH6):c.3683del (p.Ala1228fs)
|
|
|
NM_000179.3(MSH6):c.3683dup (p.Asn1229fs)
|
|
|
NM_000179.3(MSH6):c.3690del (p.Val1231fs)
|
rs730881829
|
|
NM_000179.3(MSH6):c.3693_3694insTA (p.Val1232Ter)
|
rs1670044220
|
|
NM_000179.3(MSH6):c.3693_3696del (p.Val1232fs)
|
|
|
NM_000179.3(MSH6):c.3694_3695dup (p.Lys1233fs)
|
|
|
NM_000179.3(MSH6):c.3694_3697dup (p.Lys1233delinsSerTer)
|
rs2104539547
|
|
NM_000179.3(MSH6):c.3696_3717dup (p.Lys1240Ter)
|
|
|
NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter)
|
rs1553333017
|
|
NM_000179.3(MSH6):c.3698_3699dup (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.3699dup (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.369del (p.Lys125fs)
|
|
|
NM_000179.3(MSH6):c.36_69del (p.Lys13fs)
|
rs2103932373
|
|
NM_000179.3(MSH6):c.3701_3702insT (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3705_3717dup (p.Lys1240delinsCysTer)
|
|
|
NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)
|
|
|
NM_000179.3(MSH6):c.3709_3712dup (p.Thr1238fs)
|
rs2104540758
|
|
NM_000179.3(MSH6):c.3711_3712del (p.Glu1237fs)
|
rs2104540758
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)
|
rs878853736
|
|
NM_000179.3(MSH6):c.3717_3733del (p.Lys1240fs)
|
|
|
NM_000179.3(MSH6):c.3720_3721del (p.Cys1241fs)
|
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)
|
rs587779287
|
|
NM_000179.3(MSH6):c.3726dup (p.Thr1243fs)
|
|
|
NM_000179.3(MSH6):c.3728_3732dup (p.Phe1245fs)
|
|
|
NM_000179.3(MSH6):c.3728del (p.Thr1243fs)
|
|
|
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)
|
|
|
NM_000179.3(MSH6):c.3731T>G (p.Leu1244Ter)
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3732_3736dup (p.Ser1246fs)
|
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs)
|
rs1558392228
|
|
NM_000179.3(MSH6):c.3736_3760dup (p.Glu1254fs)
|
|
|
NM_000179.3(MSH6):c.3736del (p.Ser1246fs)
|
|
|
NM_000179.3(MSH6):c.3737C>G (p.Ser1246Ter)
|
|
|
NM_000179.3(MSH6):c.3739_3743dup (p.His1248fs)
|
rs2104542786
|
|
NM_000179.3(MSH6):c.3739del (p.Thr1247fs)
|
rs2104542920
|
|
NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)
|
|
|
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs)
|
rs1558392265
|
|
NM_000179.3(MSH6):c.3743_3744del (p.His1248fs)
|
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
NM_000179.3(MSH6):c.3744_3753dup (p.Val1253fs)
|
rs1553333078
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs)
|
rs587779936
|
|
NM_000179.3(MSH6):c.3749_3764del (p.His1250fs)
|
|
|
NM_000179.3(MSH6):c.374_382delinsT (p.Lys125fs)
|
rs1553410300
|
|
NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)
|
|
|
NM_000179.3(MSH6):c.3752_3770dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3755del (p.Ser1251_Leu1252insTer)
|
|
|
NM_000179.3(MSH6):c.3757_3758insA (p.Val1253fs)
|
rs587779289
|
|
NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)
|
|
|
NM_000179.3(MSH6):c.3761_3764dup (p.Asp1255fs)
|
rs1572745084
|
|
NM_000179.3(MSH6):c.3763_3767dup (p.Tyr1256Ter)
|
|
|
NM_000179.3(MSH6):c.3766del (p.Tyr1256fs)
|
rs1553333127
|
|
NM_000179.3(MSH6):c.3766dup (p.Tyr1256fs)
|
rs1553333127
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.376del (p.Ser126fs)
|
|
|
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)
|
rs63750554
|
|
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)
|
rs1572745157
|
|
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
|
|
|
NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3783del (p.Val1262fs)
|
|
|
NM_000179.3(MSH6):c.3788dup (p.Leu1264fs)
|
|
|
NM_000179.3(MSH6):c.3792del (p.Gly1265fs)
|
rs1553333164
|
|
NM_000179.3(MSH6):c.3792dup (p.Gly1265fs)
|
|
|
NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)
|
rs754469538
|
|
NM_000179.3(MSH6):c.3794del (p.Gly1265fs)
|
|
|
NM_000179.3(MSH6):c.3798_3801+26del
|
rs587779291
|
|
NM_000179.3(MSH6):c.3798_3801dup (p.Ala1268fs)
|
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)
|
rs942019524
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3807C>A (p.Cys1269Ter)
|
rs747924946
|
|
NM_000179.3(MSH6):c.3808_3824dup (p.Cys1275Ter)
|
rs1558393006
|
|
NM_000179.3(MSH6):c.3809_3812dup (p.Glu1272fs)
|
rs1553333301
|
|
NM_000179.3(MSH6):c.3811_3824del (p.Met1270_Val1271insTer)
|
rs1558393006
|
|
NM_000179.3(MSH6):c.3812dup (p.Glu1272fs)
|
|
|
NM_000179.3(MSH6):c.3813dup (p.Glu1272fs)
|
rs1553333310
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3815_3816insT (p.Glu1272fs)
|
rs2104552191
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
NM_000179.3(MSH6):c.3819_3820del (p.Asn1273fs)
|
|
|
NM_000179.3(MSH6):c.3821_3824dup (p.Cys1275Ter)
|
rs63750262
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)
|
|
|
NM_000179.3(MSH6):c.3827_3830dup (p.Asp1277fs)
|
rs1060502903
|
|
NM_000179.3(MSH6):c.3830_3833del (p.Asp1277fs)
|
rs1572746365
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000179.3(MSH6):c.3834dup (p.Ser1279fs)
|
|
|
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)
|
rs63750139
|
|
NM_000179.3(MSH6):c.3839dup (p.Glu1281fs)
|
rs1572746488
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
NM_000179.3(MSH6):c.3842_3873dup (p.Gly1292fs)
|
|
|
NM_000179.3(MSH6):c.3843_3847dup (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3844dup (p.Thr1282fs)
|
|
|
NM_000179.3(MSH6):c.3845del (p.Thr1282fs)
|
rs2104554610
|
|
NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs)
|
rs1114167783
|
|
NM_000179.3(MSH6):c.3846dup (p.Ile1283fs)
|
rs866771359
|
|
NM_000179.3(MSH6):c.3847_3848del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3848_3851del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3849_3850del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3849del (p.Thr1284fs)
|
rs1064793781
|
|
NM_000179.3(MSH6):c.3850_3851dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850_3853dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850_3857dup (p.Tyr1287fs)
|
rs1553333432
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3851_3852insA (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3851_3860del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3851del (p.Thr1284fs)
|
rs2104555433
|
|
NM_000179.3(MSH6):c.3851delinsTTAAT (p.Thr1284fs)
|
rs1553333438
|
|
NM_000179.3(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer)
|
rs1553333449
|
|
NM_000179.3(MSH6):c.3855_3859dup (p.Tyr1287fs)
|
|
|
NM_000179.3(MSH6):c.3856_3859del (p.Leu1286fs)
|
rs2104555974
|
|
NM_000179.3(MSH6):c.3859_3862dup (p.Lys1288delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)
|
rs2104556388
|
|
NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)
|
|
|
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)
|
rs1060504739
|
|
NM_000179.3(MSH6):c.3862_3864delinsTACG (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3862_3865dup (p.Phe1289Ter)
|
rs2104556348
|
|
NM_000179.3(MSH6):c.3863_3864del (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3863_3865dup (p.Phe1289Ter)
|
rs1670108675
|
|
NM_000179.3(MSH6):c.3863_3866dup (p.Phe1289fs)
|
rs863225416
|
|
NM_000179.3(MSH6):c.3863_3876del (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3864dup (p.Phe1289fs)
|
rs878853739
|
|
NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer)
|
|
|
NM_000179.3(MSH6):c.3869_3870del (p.Ile1290fs)
|
|
|
NM_000179.3(MSH6):c.3870_3871del (p.Lys1291fs)
|
|
|
NM_000179.3(MSH6):c.3873_3888dup (p.Ser1297delinsGlySerLeuSerTer)
|
rs2104557357
|
|
NM_000179.3(MSH6):c.3874_3902dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3880_3892del (p.Cys1294fs)
|
rs1553333497
|
|
NM_000179.3(MSH6):c.3881_3900dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3882T>A (p.Cys1294Ter)
|
rs1060504744
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
NM_000179.3(MSH6):c.3886_3917dup (p.Asn1307fs)
|
rs2104558402
|
|
NM_000179.3(MSH6):c.3887_3893del (p.Lys1296fs)
|
rs267608130
|
|
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
|
|
|
NM_000179.3(MSH6):c.3889dup (p.Ser1297fs)
|
rs2104558375
|
|
NM_000179.3(MSH6):c.3891_3928dup (p.Glu1310fs)
|
rs1572746998
|
|
NM_000179.3(MSH6):c.3893dup (p.Tyr1298Ter)
|
rs1553333530
|
|
NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)
|
|
|
NM_000179.3(MSH6):c.3895_3935dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)
|
rs1064793895
|
|
NM_000179.3(MSH6):c.3900_3945dup (p.Gly1316Ter)
|
rs1558393814
|
|
NM_000179.3(MSH6):c.3901_3902insG (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3902dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3910dup (p.Arg1304fs)
|
rs1670119651
|
|
NM_000179.3(MSH6):c.3915_3916insA (p.Ala1306fs)
|
|
|
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
|
rs1670120965
|
|
NM_000179.3(MSH6):c.3916_3973dup (p.Lys1325delinsSerTer)
|
rs2104560664
|
|
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)
|
rs1553333584
|
|
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)
|
rs1553333594
|
|
NM_000179.3(MSH6):c.3920_3921dup (p.Leu1308fs)
|
rs2104561128
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3920del (p.Asn1307fs)
|
rs1114167760
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)
|
rs1553333605
|
|
NM_000179.3(MSH6):c.3926del (p.Pro1309fs)
|
|
|
NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)
|
|
|
NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)
|
rs1553333615
|
|
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
|
|
|
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)
|
rs878853742
|
|
NM_000179.3(MSH6):c.3930_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer)
|
rs1558394104
|
|
NM_000179.3(MSH6):c.3931del (p.Glu1311fs)
|
rs1558394093
|
|
NM_000179.3(MSH6):c.3932_3933del (p.Glu1311fs)
|
|
|
NM_000179.3(MSH6):c.3932_3933dup (p.Val1312fs)
|
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)
|
rs1553333644
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3936dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3937_3938del (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3946_3953del (p.Gly1316fs)
|
|
|
NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3946_3958dup (p.Ala1320delinsGlyThrTer)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3947_3951dup (p.Arg1318fs)
|
|
|
NM_000179.3(MSH6):c.3949_3950del (p.Gly1316_His1317insTer)
|
|
|
NM_000179.3(MSH6):c.3949_3970dup (p.Glu1324delinsAlaTer)
|
rs2104564057
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)
|
rs1114167790
|
|
NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)
|
rs1553333682
|
|
NM_000179.3(MSH6):c.3951dup (p.Arg1318Ter)
|
rs1553333690
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3952_3977dup (p.Met1326fs)
|
rs2104564233
|
|
NM_000179.3(MSH6):c.3954_3957dup (p.Ala1320fs)
|
|
|
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3957del (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3959_3962dup (p.Arg1321fs)
|
|
|
NM_000179.3(MSH6):c.3959dup (p.Arg1321fs)
|
|
|
NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)
|
rs1553333700
|
|
NM_000179.3(MSH6):c.3962_3965dup (p.Phe1323fs)
|
rs1670140478
|
|
NM_000179.3(MSH6):c.3962_3966dup (p.Phe1323fs)
|
|
|
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3964_3980dup (p.Asn1327delinsLysAsnLeuArgArgTer)
|
rs2104565388
|
|
NM_000179.3(MSH6):c.3966_3987dup (p.Leu1330delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)
|
rs886044911
|
|
NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs)
|
rs587779299
|
|
NM_000179.3(MSH6):c.3972_3979del (p.Lys1325fs)
|
rs1572747837
|
|
NM_000179.3(MSH6):c.3973A>T (p.Lys1325Ter)
|
rs1060502937
|
|
NM_000179.3(MSH6):c.397_410del (p.Phe133fs)
|
rs786202193
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)
|
rs587782326
|
|
NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)
|
rs2104567084
|
|
NM_000179.3(MSH6):c.3984_3985insATCA (p.Ser1329fs)
|
rs267608124
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.3996_4000dup (p.Arg1334fs)
|
rs587779301
|
|
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)
|
rs863225418
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
NM_000179.3(MSH6):c.4001+1del
|
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4002-31_4002-8inv
|
|
|
NM_000179.3(MSH6):c.402del (p.Phe134fs)
|
|
|
NM_000179.3(MSH6):c.402dup (p.Asp135Ter)
|
rs1057524912
|
|
NM_000179.3(MSH6):c.4069_4070dup (p.Lys1358fs)
|
|
|
NM_000179.3(MSH6):c.418dup (p.Arg140fs)
|
|
|
NM_000179.3(MSH6):c.422del (p.Gly141fs)
|
rs1553410342
|
|
NM_000179.3(MSH6):c.423del (p.Trp142fs)
|
rs1114167728
|
|
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)
|
rs63750342
|
|
NM_000179.3(MSH6):c.427dup (p.Val143fs)
|
rs2104110751
|
|
NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)
|
|
|
NM_000179.3(MSH6):c.442_443del (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)
|
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
NM_000179.3(MSH6):c.457+2T>A
|
rs267608036
|
|
NM_000179.3(MSH6):c.458-2_627+1del
|
rs2104227755
|
|
NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)
|
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
NM_000179.3(MSH6):c.463A>T (p.Lys155Ter)
|
rs1276159036
|
|
NM_000179.3(MSH6):c.465dup (p.Ser156fs)
|
|
|
NM_000179.3(MSH6):c.467C>A (p.Ser156Ter)
|
rs63749873
|
|
NM_000179.3(MSH6):c.468_471del (p.Glu158fs)
|
rs587779941
|
|
NM_000179.3(MSH6):c.469_470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)
|
|
|
NM_000179.3(MSH6):c.472dup (p.Glu158fs)
|
|
|
NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)
|
rs1114167692
|
|
NM_000179.3(MSH6):c.485del (p.Gly162fs)
|
rs2104229850
|
|
NM_000179.3(MSH6):c.485dup (p.Gly163fs)
|
|
|
NM_000179.3(MSH6):c.496del (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.496dup (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.498C>G (p.Tyr166Ter)
|
rs587779313
|
|
NM_000179.3(MSH6):c.506dup (p.Pro170fs)
|
|
|
NM_000179.3(MSH6):c.510dup (p.Glu171Ter)
|
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
NM_000179.3(MSH6):c.522_523del (p.Arg174fs)
|
rs267608037
|
|
NM_000179.3(MSH6):c.524del (p.Ala175fs)
|
rs1669058948
|
|
NM_000179.3(MSH6):c.529C>T (p.Gln177Ter)
|
rs2104233399
|
|
NM_000179.3(MSH6):c.529dup (p.Gln177fs)
|
rs1669059418
|
|
NM_000179.3(MSH6):c.533dup (p.Ala179fs)
|
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.564dup (p.Lys189Ter)
|
rs1572716371
|
|
NM_000179.3(MSH6):c.565A>T (p.Lys189Ter)
|
rs786203597
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
NM_000179.3(MSH6):c.586del (p.Cys196fs)
|
rs2104238107
|
|
NM_000179.3(MSH6):c.588_589del (p.Cys196_Asp197delinsTer)
|
|
|
NM_000179.3(MSH6):c.58dup (p.Ala20fs)
|
rs1553408136
|
|
NM_000179.3(MSH6):c.597del (p.Ser200fs)
|
rs1572716454
|
|
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.602_603del (p.Glu201fs)
|
rs587779945
|
|
NM_000179.3(MSH6):c.625dup (p.Glu209fs)
|
|
|
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)
|
rs2104288054
|
|
NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer)
|
rs1553412064
|
|
NM_000179.3(MSH6):c.644_645insCT (p.Val215_Thr216insTer)
|
|
|
NM_000179.3(MSH6):c.644dup (p.Thr216fs)
|
rs1572719776
|
|
NM_000179.3(MSH6):c.648_650delinsC (p.Thr216_Asp217insTer)
|
|
|
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
|
rs1669240720
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.652_653del (p.Lys218fs)
|
|
|
NM_000179.3(MSH6):c.663_667delinsTAC (p.Glu221fs)
|
rs1553412090
|
|
NM_000179.3(MSH6):c.664_671dup (p.Glu226fs)
|
|
|
NM_000179.3(MSH6):c.666_667del (p.Asp222fs)
|
|
|
NM_000179.3(MSH6):c.675dup (p.Glu226Ter)
|
|
|
NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)
|
|
|
NM_000179.3(MSH6):c.677dup (p.Ser227fs)
|
|
|
NM_000179.3(MSH6):c.679_680del (p.Glu226_Ser227insTer)
|
|
|
NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)
|
|
|
NM_000179.3(MSH6):c.688del (p.Glu230fs)
|
rs1669245178
|
|
NM_000179.3(MSH6):c.693dup (p.Gln232fs)
|
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.694_700del (p.Gln232fs)
|
rs1572719974
|
|
NM_000179.3(MSH6):c.697_698del (p.Gln232_Pro233insTer)
|
rs1572720016
|
|
NM_000179.3(MSH6):c.698_713del (p.Pro233fs)
|
rs1558658971
|
|
NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)
|
rs1553412120
|
|
NM_000179.3(MSH6):c.699_702dup (p.Thr235Ter)
|
|
|
NM_000179.3(MSH6):c.6_7delinsCT (p.Arg3Ter)
|
rs1558644683
|
|
NM_000179.3(MSH6):c.702_703insT (p.Thr235fs)
|
rs730881826
|
|
NM_000179.3(MSH6):c.702dup (p.Thr235fs)
|
|
|
NM_000179.3(MSH6):c.703_709del (p.Thr235fs)
|
rs1558658980
|
|
NM_000179.3(MSH6):c.703dup (p.Thr235fs)
|
|
|
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)
|
rs63750996
|
|
NM_000179.3(MSH6):c.706_707del (p.Gln236fs)
|
rs1553412129
|
|
NM_000179.3(MSH6):c.706del (p.Gln236fs)
|
|
|
NM_000179.3(MSH6):c.710del (p.Gly237fs)
|
rs587779319
|
|
NM_000179.3(MSH6):c.717dup (p.Arg240fs)
|
rs2104293218
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.723dup (p.Ser242Ter)
|
rs1558659056
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.736A>T (p.Lys246Ter)
|
rs1572720148
|
|
NM_000179.3(MSH6):c.738_739insT (p.Lys247Ter)
|
rs587779320
|
|
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.742dup (p.Arg248fs)
|
rs1572720192
|
|
NM_000179.3(MSH6):c.745del (p.Arg249fs)
|
|
|
NM_000179.3(MSH6):c.748del (p.Val250fs)
|
|
|
NM_000179.3(MSH6):c.753dup (p.Ser252fs)
|
|
|
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
|
rs267608048
|
|
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
|
rs1669252923
|
|
NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer)
|
rs267608072
|
|
NM_000179.3(MSH6):c.762dup (p.Glu255Ter)
|
rs1572720288
|
|
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)
|
rs1114167704
|
|
NM_000179.3(MSH6):c.767del (p.Ser256fs)
|
|
|
NM_000179.3(MSH6):c.770dup (p.Asp257fs)
|
rs2104296608
|
|
NM_000179.3(MSH6):c.776del (p.Gly259fs)
|
|
|
NM_000179.3(MSH6):c.783del (p.Asp262fs)
|
rs2104297531
|
|
NM_000179.3(MSH6):c.79del (p.Ala27fs)
|
rs1553408158
|
|
NM_000179.3(MSH6):c.7C>T (p.Arg3Ter)
|
|
|
NM_000179.3(MSH6):c.807dup (p.Lys270Ter)
|
|
|
NM_000179.3(MSH6):c.809del (p.Lys270fs)
|
rs1114167696
|
|
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)
|
rs63750552
|
|
NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)
|
|
|
NM_000179.3(MSH6):c.829del (p.Glu277fs)
|
|
|
NM_000179.3(MSH6):c.832dup (p.Ile278fs)
|
rs2104300142
|
|
NM_000179.3(MSH6):c.837delinsTAGTGG (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
NM_000179.3(MSH6):c.843_847dup (p.Gly283fs)
|
rs1114167708
|
|
NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)
|
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
NM_000179.3(MSH6):c.847_862del (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.84_85del (p.Glu30fs)
|
rs1558644886
|
|
NM_000179.3(MSH6):c.850_851insC (p.Asp284fs)
|
rs1572720562
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000179.3(MSH6):c.851del (p.Asp284fs)
|
rs2104301665
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.859_860del (p.Glu286_Ser287insTer)
|
|
|
NM_000179.3(MSH6):c.866del (p.Gly289fs)
|
|
|
NM_000179.3(MSH6):c.868del (p.Gly289_Leu290insTer)
|
rs2104302672
|
|
NM_000179.3(MSH6):c.872dup (p.Asn291fs)
|
|
|
NM_000179.3(MSH6):c.873_874del (p.Asn291fs)
|
rs1060502888
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000179.3(MSH6):c.885dup (p.Val296fs)
|
rs1572720704
|
|
NM_000179.3(MSH6):c.896del (p.Lys299fs)
|
rs1060502941
|
|
NM_000179.3(MSH6):c.896dup (p.Arg300fs)
|
|
|
NM_000179.3(MSH6):c.898_899del (p.Arg300fs)
|
|
|
NM_000179.3(MSH6):c.900del (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)
|
rs1572720794
|
|
NM_000179.3(MSH6):c.901_902del (p.Lys301fs)
|
|
|
NM_000179.3(MSH6):c.906_907del (p.Arg302fs)
|
rs1558659699
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000179.3(MSH6):c.911_912insA (p.Thr305fs)
|
|
|
NM_000179.3(MSH6):c.921_922insAGCC (p.Gly308fs)
|
|
|
NM_000179.3(MSH6):c.928_929del (p.Ser309_Leu310insTer)
|
rs2104306720
|
|
NM_000179.3(MSH6):c.92del (p.Gly31fs)
|
rs2103935655
|
|
NM_000179.3(MSH6):c.931_932insT (p.Lys311fs)
|
|
|
NM_000179.3(MSH6):c.940del (p.Ser314fs)
|
rs2104307566
|
|
NM_000179.3(MSH6):c.945dup (p.Arg316Ter)
|
rs2104308103
|
|
NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)
|
rs1472853525
|
|
NM_000179.3(MSH6):c.962delinsAGAGCTAGTTGCT (p.Ser321Ter)
|
|
|
NM_000179.3(MSH6):c.973C>T (p.Gln325Ter)
|
rs1553412397
|
|
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)
|
rs2104310469
|
|
NM_000179.3(MSH6):c.979del (p.Thr327fs)
|
rs1032784747
|
|
NM_000179.3(MSH6):c.97del (p.Arg33fs)
|
rs1668118988
|
|
NM_000179.3(MSH6):c.981dup (p.Ser328Ter)
|
|
|
NM_000179.3(MSH6):c.988dup (p.Ser330fs)
|
rs1553412409
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
NM_000179.3(MSH6):c.999del (p.Lys334fs)
|
rs1060502932
|
|
NM_000245.4(MET):c.2855del (p.Phe952fs)
|
rs1794836064
|
|
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_000249.3(MLH1):c.(207+1_208-1)_(545+1_546-1)del (p.Lys70Valfs)
|
|
|
NM_000249.3(MLH1):c.(?_-198)_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_116+?del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_1558+?del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_545+?del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_884+?del
|
|
|
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del
|
|
|
NM_000249.3(MLH1):c.-381_207+606del
|
|
|
NM_000249.3(MLH1):c.-54519_1731+2263del
|
|
|
NM_000249.3(MLH1):c.-73960_*46597del
|
|
|
NM_000249.3(MLH1):c.1039-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1039-?_1409+?del
|
|
|
NM_000249.3(MLH1):c.1039-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.1163_1164ins4
|
|
|
NM_000249.3(MLH1):c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT
|
|
|
NM_000249.3(MLH1):c.117-?_207+?del
|
|
|
NM_000249.3(MLH1):c.117-?_380+?del
|
|
|
NM_000249.3(MLH1):c.117-?_545+?del
|
|
|
NM_000249.3(MLH1):c.1325_1346del22ins5
|
|
|
NM_000249.3(MLH1):c.1410-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1410-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.1410-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.1559-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1559-?_1667+?del
|
|
|
NM_000249.3(MLH1):c.1559-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.1668-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.1668-?_1896+?del
|
|
|
NM_000249.3(MLH1):c.1732-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1732-?_1896+?del
|
|
|
NM_000249.3(MLH1):c.1732-?_2103+?del
|
|
|
NM_000249.3(MLH1):c.1897-?_1989+?del
|
|
|
NM_000249.3(MLH1):c.1990-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.207+1245_884+523dup
|
|
|
NM_000249.3(MLH1):c.207+1560_546-871del
|
|
|
NM_000249.3(MLH1):c.208-?_306+?del
|
|
|
NM_000249.3(MLH1):c.208-?_453+?del
|
|
|
NM_000249.3(MLH1):c.208-?_790+?del
|
|
|
NM_000249.3(MLH1):c.2104-?_*(193_?)del
|
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
NM_000249.3(MLH1):c.2221_2224delCTGCins30 (p.?)
|
|
|
NM_000249.3(MLH1):c.307-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.307-?_1667+?dup
|
|
|
NM_000249.3(MLH1):c.307-?_380+?del
|
|
|
NM_000249.3(MLH1):c.307-?_545+?del
|
|
|
NM_000249.3(MLH1):c.381-?_545+?del
|
|
|
NM_000249.3(MLH1):c.381-?_677+?del
|
|
|
NM_000249.3(MLH1):c.454-?_1409+?dup
|
|
|
NM_000249.3(MLH1):c.454-?_545+?del
|
|
|
NM_000249.3(MLH1):c.512_513insAlu
|
|
|
NM_000249.3(MLH1):c.546-?_1409+?dup
|
|
|
NM_000249.3(MLH1):c.546-?_677+?del
|
|
|
NM_000249.3(MLH1):c.546-?_790+?del
|
|
|
NM_000249.3(MLH1):c.678-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.678-?_884+?del
|
|
|
NM_000249.3(MLH1):c.791-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.791-?_884+?del
|
|
|
NM_000249.3(MLH1):c.885-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.885-?_1038+?del
|
|
|
NM_000249.3(MLH1):c.885-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.[-27C>A;85G>T]
|
|
|
NM_000249.3(MLH1):c.[453+625_545+921delinsTG;545+1271_677+737delinsCA]
|
|
|
NM_000249.3:c.(1409+1_1410-1)_(1558+1_1559-1)del
|
|
|
NM_000249.3:c.(1896+1_1897-1)_*193del
|
|
|
NM_000249.4(MLH1):c.-27C>A
|
rs587779001
|
|
NM_000249.4(MLH1):c.-7_1del (p.Met1fs)
|
rs2125693198
|
|
NM_000249.4(MLH1):c.1003del (p.Leu335fs)
|
rs2082990862
|
|
NM_000249.4(MLH1):c.1006_1007del (p.Gly336fs)
|
|
|
NM_000249.4(MLH1):c.1007del (p.Gly336fs)
|
rs63750434
|
|
NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)
|
rs1559500884
|
|
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
|
|
|
NM_000249.4(MLH1):c.100_103del (p.Lys33_Glu34insTer)
|
|
|
NM_000249.4(MLH1):c.1011_1014delinsAATGTGCA (p.Asn338fs)
|
rs1553648195
|
|
NM_000249.4(MLH1):c.1011del (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1017del (p.Ser340fs)
|
rs63750339
|
|
NM_000249.4(MLH1):c.101_104del (p.Glu34fs)
|
rs2125694695
|
|
NM_000249.4(MLH1):c.1021_1022insCCCT (p.Arg341fs)
|
rs2082994980
|
|
NM_000249.4(MLH1):c.1023del (p.Met342fs)
|
rs63749837
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1026dup (p.Tyr343fs)
|
rs587778881
|
|
NM_000249.4(MLH1):c.1029C>A (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1029del (p.Phe344fs)
|
rs876661059
|
|
NM_000249.4(MLH1):c.102_103del (p.Glu34fs)
|
rs63749813
|
|
NM_000249.4(MLH1):c.102_106del (p.Glu34fs)
|
|
|
NM_000249.4(MLH1):c.102del (p.Glu34_Met35insTer)
|
|
|
NM_000249.4(MLH1):c.1030_1031insGGGT (p.Phe344fs)
|
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)
|
rs63751609
|
|
NM_000249.4(MLH1):c.1038+1G>A
|
rs267607816
|
|
NM_000249.4(MLH1):c.1038+1G>C
|
rs267607816
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1038G>C (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1038G>T (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-1G>C
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-1G>T
|
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.1039-2A>C
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-2A>G
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-2_1409+150del
|
rs2125879653
|
|
NM_000249.4(MLH1):c.1039-2_1409+1del
|
rs2125879720
|
|
NM_000249.4(MLH1):c.1039-674_1409+27del
|
|
|
NM_000249.4(MLH1):c.1042_1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1043T>A (p.Leu348Ter)
|
|
|
NM_000249.4(MLH1):c.1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1046_1047delinsC (p.Leu349fs)
|
|
|
NM_000249.4(MLH1):c.1046dup (p.Pro350fs)
|
rs267607822
|
|
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)
|
rs1559551570
|
|
NM_000249.4(MLH1):c.1047dup (p.Pro350fs)
|
rs1060500707
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)
|
rs121912965
|
|
NM_000249.4(MLH1):c.104_105insAA (p.Met35fs)
|
rs587778882
|
|
NM_000249.4(MLH1):c.1050del (p.Gly351fs)
|
rs587778883
|
|
NM_000249.4(MLH1):c.1051G>T (p.Gly351Ter)
|
rs1437454428
|
|
NM_000249.4(MLH1):c.1059del (p.Gly354fs)
|
|
|
NM_000249.4(MLH1):c.1061del (p.Gly354fs)
|
rs63750472
|
|
NM_000249.4(MLH1):c.1071_1078del (p.Gly357_Glu358insTer)
|
rs587778884
|
|
NM_000249.4(MLH1):c.1072_1078del (p.Glu358fs)
|
rs1060500692
|
|
NM_000249.4(MLH1):c.1072del (p.Glu358fs)
|
rs587778885
|
|
NM_000249.4(MLH1):c.1084del (p.Ser362fs)
|
|
|
NM_000249.4(MLH1):c.108dup (p.Glu37Ter)
|
|
|
NM_000249.4(MLH1):c.1090del (p.Thr364fs)
|
rs876659226
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.109G>T (p.Glu37Ter)
|
rs63751012
|
|
NM_000249.4(MLH1):c.1101del (p.Ser368fs)
|
rs63750715
|
|
NM_000249.4(MLH1):c.1105dup (p.Ser369fs)
|
rs1060500699
|
|
NM_000249.4(MLH1):c.1109del (p.Ser370fs)
|
|
|
NM_000249.4(MLH1):c.1117G>T (p.Gly373Ter)
|
|
|
NM_000249.4(MLH1):c.111del (p.Asn38fs)
|
rs2080909702
|
|
NM_000249.4(MLH1):c.1121dup (p.Ser374fs)
|
|
|
NM_000249.4(MLH1):c.1127_1131del (p.Asp376fs)
|
|
|
NM_000249.4(MLH1):c.1128_1129dup (p.Lys377fs)
|
rs63750305
|
|
NM_000249.4(MLH1):c.1129A>T (p.Lys377Ter)
|
rs2083402714
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1132_1134delinsA (p.Val378fs)
|
rs587778887
|
|
NM_000249.4(MLH1):c.1132del (p.Val378fs)
|
rs2083403132
|
|
NM_000249.4(MLH1):c.113A>C (p.Asn38Thr)
|
rs587778888
|
|
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)
|
rs587778888
|
|
NM_000249.4(MLH1):c.1144C>T (p.Gln382Ter)
|
|
|
NM_000249.4(MLH1):c.1144del (p.Gln382fs)
|
rs2083405700
|
|
NM_000249.4(MLH1):c.1145dup (p.Met383fs)
|
rs587778889
|
|
NM_000249.4(MLH1):c.1149_1161del (p.Met383fs)
|
rs2125882042
|
|
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.1150del (p.Val384fs)
|
rs63749965
|
|
NM_000249.4(MLH1):c.1152_1155dup (p.Thr386fs)
|
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+1G>T
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1162del (p.Ser388fs)
|
|
|
NM_000249.4(MLH1):c.1163_1164insGAAT (p.Arg389fs)
|
|
|
NM_000249.4(MLH1):c.1164_1165del (p.Arg389fs)
|
|
|
NM_000249.4(MLH1):c.1168G>T (p.Glu390Ter)
|
rs886039423
|
|
NM_000249.4(MLH1):c.1168dup (p.Glu390fs)
|
rs2083411159
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.117-1G>A
|
rs587779950
|
|
NM_000249.4(MLH1):c.117-1del
|
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
NM_000249.4(MLH1):c.117-2A>T
|
|
|
NM_000249.4(MLH1):c.117-691_306+1011del
|
|
|
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)
|
rs587778894
|
|
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs)
|
rs2083412120
|
|
NM_000249.4(MLH1):c.1181dup (p.Asp394fs)
|
|
|
NM_000249.4(MLH1):c.1182dup (p.Ala395fs)
|
|
|
NM_000249.4(MLH1):c.1183dup (p.Ala395fs)
|
|
|
NM_000249.4(MLH1):c.1187_1190del (p.Phe396fs)
|
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)
|
rs63750483
|
|
NM_000249.4(MLH1):c.1193del (p.Gln398fs)
|
rs2083416349
|
|
NM_000249.4(MLH1):c.119T>G (p.Leu40Ter)
|
|
|
NM_000249.4(MLH1):c.119_131delinsNNNNNNNNNNN (p.Leu40fs)
|
|
|
NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer)
|
rs587778896
|
|
NM_000249.4(MLH1):c.11_12del (p.Val4fs)
|
|
|
NM_000249.4(MLH1):c.1204_1207dup (p.Pro403fs)
|
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1210del (p.Leu404fs)
|
|
|
NM_000249.4(MLH1):c.1210dup (p.Leu404fs)
|
rs587778898
|
|
NM_000249.4(MLH1):c.1217_1223dup (p.Gln409fs)
|
rs587778899
|
|
NM_000249.4(MLH1):c.1218del (p.Gln407fs)
|
rs587778900
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.121G>C (p.Asp41His)
|
rs267607713
|
|
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)
|
rs63751153
|
|
NM_000249.4(MLH1):c.1225_1259del (p.Pro408_Gln409insTer)
|
|
|
NM_000249.4(MLH1):c.1228del (p.Ala410fs)
|
|
|
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)
|
rs63751094
|
|
NM_000249.4(MLH1):c.122A>T (p.Asp41Val)
|
rs63751094
|
|
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer)
|
rs1575536254
|
|
NM_000249.4(MLH1):c.1233del (p.Ile411fs)
|
|
|
NM_000249.4(MLH1):c.1238_1239del (p.Thr413fs)
|
rs1553651073
|
|
NM_000249.4(MLH1):c.1239dup (p.Glu414fs)
|
rs2125883954
|
|
NM_000249.4(MLH1):c.1241_1242del (p.Glu414fs)
|
rs2083425688
|
|
NM_000249.4(MLH1):c.1243delinsTT (p.Asp415fs)
|
|
|
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)
|
rs267607823
|
|
NM_000249.4(MLH1):c.1250_1251del (p.Thr417fs)
|
|
|
NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs)
|
rs63751118
|
|
NM_000249.4(MLH1):c.1255del (p.Ile419fs)
|
|
|
NM_000249.4(MLH1):c.1258del (p.Ser420fs)
|
rs863225373
|
|
NM_000249.4(MLH1):c.125dup (p.Ser44fs)
|
|
|
NM_000249.4(MLH1):c.1261del (p.Ser421fs)
|
rs63750293
|
|
NM_000249.4(MLH1):c.1261delinsTAT (p.Ser421fs)
|
rs1553651130
|
|
NM_000249.4(MLH1):c.1275dup (p.Gln426fs)
|
rs2125884574
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)
|
rs1559553501
|
|
NM_000249.4(MLH1):c.1286_1293del (p.Glu429fs)
|
|
|
NM_000249.4(MLH1):c.1287_1288insC (p.Glu430fs)
|
|
|
NM_000249.4(MLH1):c.1288G>T (p.Glu430Ter)
|
|
|
NM_000249.4(MLH1):c.128_131dup (p.Thr45fs)
|
rs63751431
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.1297del (p.Glu433fs)
|
|
|
NM_000249.4(MLH1):c.129dup (p.Ser44fs)
|
rs63750867
|
|
NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs)
|
rs1553651299
|
|
NM_000249.4(MLH1):c.1310del (p.Pro437fs)
|
rs63750748
|
|
NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter)
|
rs1302248679
|
|
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)
|
rs63751109
|
|
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
|
rs63751109
|
|
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)
|
rs2125710774
|
|
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
NM_000249.4(MLH1):c.132del (p.Thr45fs)
|
rs2081162085
|
|
NM_000249.4(MLH1):c.1331del (p.Asn444fs)
|
|
|
NM_000249.4(MLH1):c.1331dup (p.Asn444fs)
|
rs2083443709
|
|
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)
|
rs1575537843
|
|
NM_000249.4(MLH1):c.1334del (p.Gln445fs)
|
rs63749845
|
|
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs)
|
rs1114167435
|
|
NM_000249.4(MLH1):c.1336_1337dup (p.Ser446fs)
|
|
|
NM_000249.4(MLH1):c.133del (p.Thr45fs)
|
|
|
NM_000249.4(MLH1):c.1342G>T (p.Glu448Ter)
|
rs1575537933
|
|
NM_000249.4(MLH1):c.1343_1344insC (p.Glu448fs)
|
|
|
NM_000249.4(MLH1):c.1343del (p.Glu448fs)
|
rs63749981
|
|
NM_000249.4(MLH1):c.1347_1367delinsTAAA (p.Asp450fs)
|
rs587778905
|
|
NM_000249.4(MLH1):c.1348dup (p.Asp450fs)
|
rs587778906
|
|
NM_000249.4(MLH1):c.1350_1351dup (p.Thr451fs)
|
|
|
NM_000249.4(MLH1):c.1354del (p.Thr452fs)
|
rs63750071
|
|
NM_000249.4(MLH1):c.1358del (p.Lys453fs)
|
|
|
NM_000249.4(MLH1):c.1358dup (p.Thr455fs)
|
rs1553651429
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1362dup (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1367C>A (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367C>G (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
NM_000249.4(MLH1):c.1369_1370insGGAGCGGAGCAGAGCCGAGGTCGGGCCGCGAGCGGAGCCGGCTGAGCGGGCGCCGAGCTCCCGCCATGGCCCGGAACACGCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAAGGGGACTTCAG (p.Glu457fs)
|
rs2125886028
|
|
NM_000249.4(MLH1):c.1373dup (p.Met458fs)
|
rs2083453557
|
|
NM_000249.4(MLH1):c.1376C>G (p.Ser459Ter)
|
rs2083454135
|
|
NM_000249.4(MLH1):c.1377del (p.Glu460fs)
|
rs587778908
|
|
NM_000249.4(MLH1):c.1377dup (p.Glu460fs)
|
rs63750020
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
NM_000249.4(MLH1):c.1380_1381del (p.Lys461fs)
|
rs587778909
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1382_1386del (p.Lys461fs)
|
rs1064794612
|
|
NM_000249.4(MLH1):c.1398del (p.Ser467fs)
|
rs63750713
|
|
NM_000249.4(MLH1):c.1400del (p.Ser467fs)
|
rs1064795515
|
|
NM_000249.4(MLH1):c.1408A>T (p.Arg470Ter)
|
rs2125887070
|
|
NM_000249.4(MLH1):c.1409+1127_1558+4255del
|
|
|
NM_000249.4(MLH1):c.1409+1156_1558+1385del
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>C
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+2T>C
|
rs587778911
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)
|
rs63751592
|
|
NM_000249.4(MLH1):c.1412dup (p.Arg472fs)
|
rs63751677
|
|
NM_000249.4(MLH1):c.1413_1416del (p.Lys471fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1413_1416dup (p.His473fs)
|
|
|
NM_000249.4(MLH1):c.1414dup (p.Arg472fs)
|
rs63751468
|
|
NM_000249.4(MLH1):c.1415_1416del (p.Arg472fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1415_1427del (p.Arg472fs)
|
rs587778912
|
|
NM_000249.4(MLH1):c.1416dup (p.His473fs)
|
rs1553652883
|
|
NM_000249.4(MLH1):c.1420del (p.Arg474fs)
|
rs63750482
|
|
NM_000249.4(MLH1):c.1423G>T (p.Glu475Ter)
|
|
|
NM_000249.4(MLH1):c.1429del (p.Ser477fs)
|
|
|
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1432del (p.Asp478fs)
|
|
|
NM_000249.4(MLH1):c.1435_1453del (p.Val479fs)
|
rs2125901597
|
|
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)
|
rs587778914
|
|
NM_000249.4(MLH1):c.1441del (p.Met481fs)
|
rs878853777
|
|
NM_000249.4(MLH1):c.1447G>T (p.Glu483Ter)
|
|
|
NM_000249.4(MLH1):c.1447del (p.Glu483fs)
|
rs1553652930
|
|
NM_000249.4(MLH1):c.1449del (p.Asp484fs)
|
rs587778915
|
|
NM_000249.4(MLH1):c.1456dup (p.Ser486fs)
|
rs878853778
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)
|
rs587778918
|
|
NM_000249.4(MLH1):c.1463del (p.Lys488fs)
|
rs63749876
|
|
NM_000249.4(MLH1):c.1464_1468del (p.Lys488fs)
|
rs587778919
|
|
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)
|
rs63750098
|
|
NM_000249.4(MLH1):c.1478del (p.Ala493fs)
|
rs2083706682
|
|
NM_000249.4(MLH1):c.1482T>A (p.Cys494Ter)
|
rs1575552976
|
|
NM_000249.4(MLH1):c.1489_1490insCG (p.Arg497fs)
|
rs1553653037
|
|
NM_000249.4(MLH1):c.1489del (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1491del (p.Arg498fs)
|
rs63751435
|
|
NM_000249.4(MLH1):c.1491dup (p.Arg498fs)
|
rs63751435
|
|
NM_000249.4(MLH1):c.1499_1512del (p.Ile500fs)
|
rs2125902746
|
|
NM_000249.4(MLH1):c.1499del (p.Ile500fs)
|
rs2125902731
|
|
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)
|
rs587778920
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
NM_000249.4(MLH1):c.1507del (p.Leu503fs)
|
rs2125902896
|
|
NM_000249.4(MLH1):c.150dup (p.Val51fs)
|
rs63749956
|
|
NM_000249.4(MLH1):c.1512_1513del (p.Ser505fs)
|
|
|
NM_000249.4(MLH1):c.1516_1517del (p.Val506fs)
|
rs1553653115
|
|
NM_000249.4(MLH1):c.1520del (p.Val506_Leu507insTer)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1520dup (p.Leu507fs)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs)
|
rs876658821
|
|
NM_000249.4(MLH1):c.1526del (p.Leu509fs)
|
rs1553653158
|
|
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)
|
rs63749923
|
|
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
|
rs2083718945
|
|
NM_000249.4(MLH1):c.1530_1534del (p.Glu511fs)
|
|
|
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)
|
rs63751472
|
|
NM_000249.4(MLH1):c.153dup (p.Lys52Ter)
|
rs587778922
|
|
NM_000249.4(MLH1):c.1542dup (p.Glu515Ter)
|
rs63750317
|
|
NM_000249.4(MLH1):c.1543G>T (p.Glu515Ter)
|
|
|
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1547dup (p.His518fs)
|
|
|
NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)
|
rs63751705
|
|
NM_000249.4(MLH1):c.154_158del (p.Lys52fs)
|
|
|
NM_000249.4(MLH1):c.1552_1553insT (p.His518fs)
|
rs587778924
|
|
NM_000249.4(MLH1):c.1552del (p.His518fs)
|
rs587778925
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1557_1558insT (p.Val520fs)
|
rs587778926
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+2T>A
|
rs267607831
|
|
NM_000249.4(MLH1):c.1559-1322_1668-391del
|
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>C
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>T
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2_1667+1del
|
rs2125943381
|
|
NM_000249.4(MLH1):c.155_156del (p.Lys52fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.155_158del (p.Lys52fs)
|
rs587778923
|
|
NM_000249.4(MLH1):c.1568del (p.Glu523fs)
|
|
|
NM_000249.4(MLH1):c.1568dup (p.Met524fs)
|
rs2084634023
|
|
NM_000249.4(MLH1):c.1569del (p.Met524fs)
|
rs1559574795
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.156dup (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1572_1573del (p.Met524fs)
|
rs587778928
|
|
NM_000249.4(MLH1):c.1573_1574del (p.Leu525fs)
|
rs63751613
|
|
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)
|
rs587778929
|
|
NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)
|
|
|
NM_000249.4(MLH1):c.1581_1582del (p.Asn527fs)
|
|
|
NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)
|
|
|
NM_000249.4(MLH1):c.1582del (p.His528fs)
|
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
NM_000249.4(MLH1):c.1589_1608del (p.Phe530fs)
|
|
|
NM_000249.4(MLH1):c.1591del (p.Val531fs)
|
rs1553658009
|
|
NM_000249.4(MLH1):c.1592_1593del (p.Val531fs)
|
rs587778931
|
|
NM_000249.4(MLH1):c.1597_1616del (p.Cys533fs)
|
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
NM_000249.4(MLH1):c.1598_1608dup (p.Gln537delinsValTer)
|
|
|
NM_000249.4(MLH1):c.15_28del (p.Gly6fs)
|
rs63751891
|
|
NM_000249.4(MLH1):c.1601_1602del (p.Val534fs)
|
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
NM_000249.4(MLH1):c.1609del (p.Gln537fs)
|
|
|
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)
|
rs587778933
|
|
NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)
|
rs267607842
|
|
NM_000249.4(MLH1):c.161_164del (p.Gly54fs)
|
rs587778932
|
|
NM_000249.4(MLH1):c.161del (p.Gly54fs)
|
rs63751266
|
|
NM_000249.4(MLH1):c.1620_1621del (p.Leu540fs)
|
rs63750036
|
|
NM_000249.4(MLH1):c.1622del (p.Ala541fs)
|
rs63750824
|
|
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)
|
rs63750192
|
|
NM_000249.4(MLH1):c.1630C>T (p.Gln544Ter)
|
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.1635dup (p.Lys546fs)
|
|
|
NM_000249.4(MLH1):c.1637_1641dup (p.Tyr548fs)
|
rs1064794267
|
|
NM_000249.4(MLH1):c.1639_1643dup (p.Leu549fs)
|
rs587778934
|
|
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1644C>A (p.Tyr548Ter)
|
|
|
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)
|
rs63751087
|
|
NM_000249.4(MLH1):c.1645del (p.Leu549fs)
|
|
|
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)
|
rs63750193
|
|
NM_000249.4(MLH1):c.1653del (p.Asn551fs)
|
|
|
NM_000249.4(MLH1):c.1654dup (p.Thr552fs)
|
|
|
NM_000249.4(MLH1):c.1656del (p.Thr553fs)
|
rs876660589
|
|
NM_000249.4(MLH1):c.1656dup (p.Thr553fs)
|
|
|
NM_000249.4(MLH1):c.1658_1661del (p.Thr553fs)
|
|
|
NM_000249.4(MLH1):c.1661del (p.Lys554fs)
|
|
|
NM_000249.4(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer)
|
rs267607699
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
NM_000249.4(MLH1):c.1667+1G>C
|
|
|
NM_000249.4(MLH1):c.1667+1G>T
|
|
|
NM_000249.4(MLH1):c.1667+1_1667+8delinsATTT
|
rs863223312
|
|
NM_000249.4(MLH1):c.1667+2T>A
|
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1667+2T>G
|
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-1G>C
|
|
|
NM_000249.4(MLH1):c.1668-1G>T
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-2A>C
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668-2A>G
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668del (p.Ser556fs)
|
rs587778939
|
|
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)
|
rs63751244
|
|
NM_000249.4(MLH1):c.1669dup (p.Glu557fs)
|
|
|
NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)
|
rs63751081
|
|
NM_000249.4(MLH1):c.1673_1676dup (p.Phe560fs)
|
|
|
NM_000249.4(MLH1):c.1676del (p.Leu559fs)
|
rs2084804331
|
|
NM_000249.4(MLH1):c.1681_1686del (p.Tyr561_Gln562del)
|
rs2084805279
|
|
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
NM_000249.4(MLH1):c.1685A>C (p.Gln562Pro)
|
rs1553659377
|
|
NM_000249.4(MLH1):c.1685del (p.Gln562fs)
|
|
|
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)
|
rs863225376
|
|
NM_000249.4(MLH1):c.1689_1713del (p.Ile563fs)
|
|
|
NM_000249.4(MLH1):c.1689dup (p.Leu564fs)
|
rs63750464
|
|
NM_000249.4(MLH1):c.168_169insCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAGGCCTG (p.Lys57delinsProValValProAlaThrArgGluAlaGluAlaGlyGluTrpArgGluProGlyArgArgSerLeuGlnTer)
|
rs2125711087
|
|
NM_000249.4(MLH1):c.1690_1693del (p.Leu564fs)
|
rs267607849
|
|
NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs)
|
rs2125957613
|
|
NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter)
|
rs876658915
|
|
NM_000249.4(MLH1):c.169A>T (p.Lys57Ter)
|
|
|
NM_000249.4(MLH1):c.1704del (p.Phe568fs)
|
|
|
NM_000249.4(MLH1):c.1707del (p.Asn570fs)
|
rs2125957824
|
|
NM_000249.4(MLH1):c.1709del (p.Asn570fs)
|
|
|
NM_000249.4(MLH1):c.170del (p.Lys57fs)
|
|
|
NM_000249.4(MLH1):c.1717_1718del (p.Val573fs)
|
rs63751709
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
NM_000249.4(MLH1):c.1723dup (p.Arg575fs)
|
rs2125958173
|
|
NM_000249.4(MLH1):c.1725del (p.Arg575fs)
|
rs63751685
|
|
NM_000249.4(MLH1):c.1727T>G (p.Leu576Ter)
|
rs2125958240
|
|
NM_000249.4(MLH1):c.1727dup (p.Leu576fs)
|
|
|
NM_000249.4(MLH1):c.1728del (p.Leu576fs)
|
|
|
NM_000249.4(MLH1):c.1730C>A (p.Ser577Ter)
|
rs56185292
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+2247_1897-402del
|
|
|
NM_000249.4(MLH1):c.1731+270_1896+73del
|
|
|
NM_000249.4(MLH1):c.1731+2T>C
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+2T>G
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+5G>A
|
rs267607850
|
|
NM_000249.4(MLH1):c.1731+768_1897-222del
|
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1731G>T (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1732-2243_1896+404del
|
|
|
NM_000249.4(MLH1):c.1732-2A>C
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-2A>G
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-2A>T
|
rs267607852
|
|
NM_000249.4(MLH1):c.1737del (p.Ala580fs)
|
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)
|
rs63751616
|
|
NM_000249.4(MLH1):c.1745_1758del (p.Leu582fs)
|
rs1575620443
|
|
NM_000249.4(MLH1):c.1745del (p.Leu582fs)
|
rs587778942
|
|
NM_000249.4(MLH1):c.1746_1747del (p.Leu582_Phe583insTer)
|
rs2125984234
|
|
NM_000249.4(MLH1):c.1746del (p.Phe583fs)
|
rs876659068
|
|
NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer)
|
rs63750309
|
|
NM_000249.4(MLH1):c.1749del (p.Phe583fs)
|
rs63750309
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
NM_000249.4(MLH1):c.1752_1772del (p.Leu585_Asp591del)
|
|
|
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1758del (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1759_1763del (p.Met587fs)
|
|
|
NM_000249.4(MLH1):c.175dup (p.Ile59fs)
|
rs587778944
|
|
NM_000249.4(MLH1):c.1761dup (p.Leu588fs)
|
|
|
NM_000249.4(MLH1):c.1762_1768dup (p.Leu590fs)
|
rs2125984506
|
|
NM_000249.4(MLH1):c.1764del (p.Ala589fs)
|
rs63751486
|
|
NM_000249.4(MLH1):c.1765_1769del (p.Ala589fs)
|
|
|
NM_000249.4(MLH1):c.1767del (p.Ala589_Leu590insTer)
|
|
|
NM_000249.4(MLH1):c.1769T>A (p.Leu590Ter)
|
|
|
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)
|
rs1553662753
|
|
NM_000249.4(MLH1):c.1769del (p.Ala589_Leu590insTer)
|
rs63749979
|
|
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)
|
rs2125984594
|
|
NM_000249.4(MLH1):c.1770dup (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1771del (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs)
|
rs63750375
|
|
NM_000249.4(MLH1):c.1778del (p.Pro593fs)
|
|
|
NM_000249.4(MLH1):c.177del (p.Gln60fs)
|
|
|
NM_000249.4(MLH1):c.1781del (p.Glu594fs)
|
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596fs)
|
rs1553662800
|
|
NM_000249.4(MLH1):c.1789_1790insATCT (p.Trp597fs)
|
|
|
NM_000249.4(MLH1):c.178C>T (p.Gln60Ter)
|
rs2081170615
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)
|
rs863225378
|
|
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1800_1818del (p.Glu600fs)
|
rs587778946
|
|
NM_000249.4(MLH1):c.1809del (p.Glu605fs)
|
rs2125985001
|
|
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)
|
rs63750386
|
|
NM_000249.4(MLH1):c.1812dup (p.Glu605fs)
|
rs63751240
|
|
NM_000249.4(MLH1):c.1818delinsCTT (p.Leu607fs)
|
rs1575621386
|
|
NM_000249.4(MLH1):c.1821dup (p.Ala608fs)
|
rs587778947
|
|
NM_000249.4(MLH1):c.1824_1825dup (p.Glu609fs)
|
rs1575621506
|
|
NM_000249.4(MLH1):c.1829_1832dup (p.Val612fs)
|
rs587778948
|
|
NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter)
|
rs2125985283
|
|
NM_000249.4(MLH1):c.1830_1831del (p.Ile611fs)
|
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer)
|
rs863225379
|
|
NM_000249.4(MLH1):c.1837_1840del (p.Glu613fs)
|
|
|
NM_000249.4(MLH1):c.1840_1870dup (p.Asp624delinsValSerGluGluGluGlyTer)
|
rs2085310643
|
|
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
|
|
|
NM_000249.4(MLH1):c.1846A>T (p.Lys616Ter)
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1847del (p.Lys616fs)
|
|
|
NM_000249.4(MLH1):c.1848del (p.Lys617fs)
|
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter)
|
rs35001569
|
|
NM_000249.4(MLH1):c.1853delinsTTCTT (p.Lys618fs)
|
rs587778949
|
|
NM_000249.4(MLH1):c.1853dup (p.Ala619fs)
|
rs1060500687
|
|
NM_000249.4(MLH1):c.1855_1856dup (p.Glu620fs)
|
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1856_1859dup (p.Glu620delinsAspTer)
|
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
NM_000249.4(MLH1):c.1860dup (p.Met621fs)
|
rs863225380
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865_1866insAT (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1866del (p.Ala623fs)
|
rs587778950
|
|
NM_000249.4(MLH1):c.1867dup (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1871dup (p.Asp624fs)
|
|
|
NM_000249.4(MLH1):c.1873dup (p.Tyr625fs)
|
|
|
NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter)
|
rs63751415
|
|
NM_000249.4(MLH1):c.1877_1883del (p.Phe626fs)
|
rs63751594
|
|
NM_000249.4(MLH1):c.1877del (p.Phe626fs)
|
rs63750152
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
NM_000249.4(MLH1):c.1880_1883del (p.Ser627fs)
|
rs587778953
|
|
NM_000249.4(MLH1):c.1882_1883del (p.Leu628fs)
|
|
|
NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter)
|
rs1553663159
|
|
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)
|
rs63751639
|
|
NM_000249.4(MLH1):c.1885del (p.Glu629fs)
|
|
|
NM_000249.4(MLH1):c.1888del (p.Ile630fs)
|
rs2125986083
|
|
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)
|
rs786201990
|
|
NM_000249.4(MLH1):c.1893del (p.Asp631fs)
|
rs587778954
|
|
NM_000249.4(MLH1):c.1896+1G>A
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1del
|
rs267607868
|
|
NM_000249.4(MLH1):c.1896+2T>C
|
rs267607869
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)
|
rs587778955
|
|
NM_000249.4(MLH1):c.18_34del (p.Val7fs)
|
rs63751892
|
|
NM_000249.4(MLH1):c.1902del (p.Asn635fs)
|
rs587778956
|
|
NM_000249.4(MLH1):c.1904dup (p.Asn635fs)
|
rs587778957
|
|
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)
|
rs1553663750
|
|
NM_000249.4(MLH1):c.190_191del (p.Asn64fs)
|
rs63750469
|
|
NM_000249.4(MLH1):c.1912G>T (p.Gly638Ter)
|
rs63750549
|
|
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)
|
rs587778958
|
|
NM_000249.4(MLH1):c.1914_1942dup (p.Pro648delinsHisTyrProPheTer)
|
rs587778959
|
|
NM_000249.4(MLH1):c.1916T>A (p.Leu639Ter)
|
|
|
NM_000249.4(MLH1):c.1916dup (p.Leu639fs)
|
rs587778960
|
|
NM_000249.4(MLH1):c.1917_1924del (p.Leu639fs)
|
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.191dup (p.Asn64fs)
|
rs63751255
|
|
NM_000249.4(MLH1):c.1920_1921insT (p.Leu641fs)
|
rs587778961
|
|
NM_000249.4(MLH1):c.1921del (p.Leu641fs)
|
|
|
NM_000249.4(MLH1):c.1921dup (p.Leu641fs)
|
rs2125990255
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.1928_1931dup (p.Asp644_Asn645insTer)
|
|
|
NM_000249.4(MLH1):c.1929del (p.Ile643fs)
|
rs2085415927
|
|
NM_000249.4(MLH1):c.192dup (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1930del (p.Asp644fs)
|
rs587778962
|
|
NM_000249.4(MLH1):c.1938T>A (p.Tyr646Ter)
|
|
|
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)
|
rs1064794331
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000249.4(MLH1):c.1945_1946dup (p.Glu651fs)
|
|
|
NM_000249.4(MLH1):c.1946del (p.Pro649fs)
|
rs281864938
|
|
NM_000249.4(MLH1):c.1946dup (p.Leu650fs)
|
|
|
NM_000249.4(MLH1):c.194_195insAT (p.Thr66fs)
|
rs2125711634
|
|
NM_000249.4(MLH1):c.194_201del (p.Gly65fs)
|
rs2125711616
|
|
NM_000249.4(MLH1):c.1951G>T (p.Glu651Ter)
|
|
|
NM_000249.4(MLH1):c.1953_1956del (p.Glu651fs)
|
rs63751301
|
|
NM_000249.4(MLH1):c.1955del (p.Gly652fs)
|
|
|
NM_000249.4(MLH1):c.1956_1957del (p.Leu653fs)
|
rs1553663981
|
|
NM_000249.4(MLH1):c.1956del (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.1957del (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.195_200del (p.Thr66_Gly67del)
|
rs1575395515
|
|
NM_000249.4(MLH1):c.195del (p.Thr66fs)
|
rs267607715
|
|
NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)
|
rs1553638868
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
NM_000249.4(MLH1):c.1969dup (p.Ile657fs)
|
rs2085425585
|
|
NM_000249.4(MLH1):c.1971del (p.Leu658fs)
|
rs63750115
|
|
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
|
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1975_1976del (p.Arg659fs)
|
rs63750131
|
|
NM_000249.4(MLH1):c.1975dup (p.Arg659fs)
|
|
|
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)
|
rs63749900
|
|
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)
|
rs63749900
|
|
NM_000249.4(MLH1):c.1976_1977del (p.Arg659fs)
|
rs63751200
|
|
NM_000249.4(MLH1):c.1978del (p.Arg659_Leu660insTer)
|
|
|
NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)
|
rs1559591546
|
|
NM_000249.4(MLH1):c.197_207+20del
|
|
|
NM_000249.4(MLH1):c.1983dup (p.Thr662fs)
|
rs2125991131
|
|
NM_000249.4(MLH1):c.1986_1989+1delinsC
|
rs267607873
|
|
NM_000249.4(MLH1):c.1988A>G (p.Glu663Gly)
|
rs63751682
|
|
NM_000249.4(MLH1):c.1988del (p.Glu663fs)
|
rs267607877
|
|
NM_000249.4(MLH1):c.1989+1G>A
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+1del
|
|
|
NM_000249.4(MLH1):c.1989+5G>C
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989+5G>T
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.198dup (p.Gly67fs)
|
rs587778966
|
|
NM_000249.4(MLH1):c.1990-1G>A
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>C
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>T
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-2A>C
|
rs267607883
|
|
NM_000249.4(MLH1):c.1990-2A>G
|
rs267607883
|
|
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter)
|
rs886039424
|
|
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)
|
rs63750639
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.19_35del (p.Val7fs)
|
rs267607702
|
|
NM_000249.4(MLH1):c.19del (p.Val7fs)
|
rs2080886738
|
|
NM_000249.4(MLH1):c.1A>G (p.Met1Val)
|
rs587778967
|
|
NM_000249.4(MLH1):c.2000dup (p.Asp667fs)
|
rs63750282
|
|
NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs)
|
rs63750061
|
|
NM_000249.4(MLH1):c.2009del (p.Lys670fs)
|
rs63750740
|
|
NM_000249.4(MLH1):c.2009dup (p.Glu671fs)
|
rs63750740
|
|
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)
|
rs63750663
|
|
NM_000249.4(MLH1):c.2013_2014del (p.Cys672fs)
|
|
|
NM_000249.4(MLH1):c.2019dup (p.Glu674Ter)
|
|
|
NM_000249.4(MLH1):c.201del (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.201dup (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.2020G>T (p.Glu674Ter)
|
|
|
NM_000249.4(MLH1):c.2028del (p.Ser677fs)
|
rs2125993386
|
|
NM_000249.4(MLH1):c.2030dup (p.Ser677fs)
|
rs2085469647
|
|
NM_000249.4(MLH1):c.2031_2041del (p.Lys678fs)
|
|
|
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)
|
rs1553664436
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2039_2040delinsAG (p.Cys680Ter)
|
rs2125993577
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2042del (p.Ala681fs)
|
|
|
NM_000249.4(MLH1):c.2043dup (p.Met682fs)
|
rs2125993690
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2046_2052del (p.Met682fs)
|
rs2125993656
|
|
NM_000249.4(MLH1):c.2052T>A (p.Tyr684Ter)
|
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2059del (p.Arg687fs)
|
rs863225381
|
|
NM_000249.4(MLH1):c.205del (p.Arg69fs)
|
rs63751704
|
|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)
|
rs41542214
|
|
NM_000249.4(MLH1):c.2067_2073del (p.Gln689fs)
|
rs63750420
|
|
NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)
|
|
|
NM_000249.4(MLH1):c.207+1G>T
|
rs267607718
|
|
NM_000249.4(MLH1):c.207+1_207+2del
|
rs267607719
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000249.4(MLH1):c.207+2T>G
|
rs267607722
|
|
NM_000249.4(MLH1):c.207+5G>C
|
rs587781518
|
|
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000249.4(MLH1):c.2071_2072insG (p.Ile691fs)
|
rs1575632112
|
|
NM_000249.4(MLH1):c.2072dup (p.Ser692fs)
|
|
|
NM_000249.4(MLH1):c.2076_2077del (p.Glu693fs)
|
rs63750769
|
|
NM_000249.4(MLH1):c.2078_2172del (p.Glu693fs)
|
|
|
NM_000249.4(MLH1):c.208-1714_306+641delinsACATAGTA
|
|
|
NM_000249.4(MLH1):c.208-1G>A
|
rs267607717
|
|
NM_000249.4(MLH1):c.208-1_208del
|
rs587778973
|
|
NM_000249.4(MLH1):c.208-2A>C
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-2A>G
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.2080dup (p.Glu694fs)
|
rs1553664617
|
|
NM_000249.4(MLH1):c.2082dup (p.Ser695fs)
|
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2089_2090insGG (p.Leu697fs)
|
|
|
NM_000249.4(MLH1):c.2089dup (p.Leu697fs)
|
rs1064793177
|
|
NM_000249.4(MLH1):c.2091_2093delinsT (p.Ser698fs)
|
|
|
NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs)
|
rs63750859
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)
|
rs1553664702
|
|
NM_000249.4(MLH1):c.2099_2102del (p.Gln700fs)
|
rs63751652
|
|
NM_000249.4(MLH1):c.2099del (p.Gln700fs)
|
rs2148512263
|
|
NM_000249.4(MLH1):c.2100_2103+13delinsCTG
|
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2102A>G (p.Gln701Arg)
|
rs2148512343
|
|
NM_000249.4(MLH1):c.2102dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>C
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>T
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+2T>G
|
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2104-1G>A
|
rs587778978
|
|
NM_000249.4(MLH1):c.2104-2A>T
|
rs267607889
|
|
NM_000249.4(MLH1):c.2105_2114del (p.Ser702fs)
|
rs587778979
|
|
NM_000249.4(MLH1):c.2105dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2108_2117del (p.Glu703fs)
|
rs2148521826
|
|
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs)
|
|
|
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)
|
rs63751642
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.2111_2117del (p.Val704fs)
|
rs587778980
|
|
NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)
|
rs63749829
|
|
NM_000249.4(MLH1):c.2123_2126del (p.Ile708fs)
|
rs2148522316
|
|
NM_000249.4(MLH1):c.2129dup (p.Asn710fs)
|
|
|
NM_000249.4(MLH1):c.2131dup (p.Ser711fs)
|
rs2148522538
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)
|
rs63750499
|
|
NM_000249.4(MLH1):c.2136del (p.Ser711_Trp712insTer)
|
rs1060500706
|
|
NM_000249.4(MLH1):c.2138_2151del (p.Lys713fs)
|
rs2148522723
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2142del (p.Lys713_Trp714insTer)
|
|
|
NM_000249.4(MLH1):c.2147_2148del (p.Val716fs)
|
rs587778981
|
|
NM_000249.4(MLH1):c.2148_2149del (p.Glu717fs)
|
rs1575639851
|
|
NM_000249.4(MLH1):c.2148_2163del (p.Glu717fs)
|
|
|
NM_000249.4(MLH1):c.2149G>T (p.Glu717Ter)
|
|
|
NM_000249.4(MLH1):c.2149_2195dup (p.His733fs)
|
rs587778982
|
|
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)
|
rs587778983
|
|
NM_000249.4(MLH1):c.2154_2155del (p.Ile719fs)
|
rs63750971
|
|
NM_000249.4(MLH1):c.2154_2155dup (p.Ile719fs)
|
rs63750971
|
|
NM_000249.4(MLH1):c.2156_2157del (p.Ile719fs)
|
|
|
NM_000249.4(MLH1):c.2157dup (p.Val720fs)
|
rs587778984
|
|
NM_000249.4(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer)
|
rs1553665683
|
|
NM_000249.4(MLH1):c.2162del (p.Tyr721fs)
|
rs786202767
|
|
NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)
|
rs63750484
|
|
NM_000249.4(MLH1):c.2163del (p.Val720_Tyr721insTer)
|
rs2148523658
|
|
NM_000249.4(MLH1):c.2166dup (p.Ala723fs)
|
|
|
NM_000249.4(MLH1):c.2174_2177dup (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.2177C>A (p.Ser726Ter)
|
|
|
NM_000249.4(MLH1):c.2177C>G (p.Ser726Ter)
|
rs864622457
|
|
NM_000249.4(MLH1):c.2179_2182del (p.His727fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2179delinsAG (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.217del (p.Leu73fs)
|
|
|
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2186dup (p.Pro730fs)
|
|
|
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
|
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2195_2196del (p.Lys732fs)
|
rs2148524462
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2196dup (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2198_2199del (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter)
|
rs876659608
|
|
NM_000249.4(MLH1):c.2212G>T (p.Gly738Ter)
|
rs1553665866
|
|
NM_000249.4(MLH1):c.2215_2218dup (p.Ile740fs)
|
rs1575640892
|
|
NM_000249.4(MLH1):c.2218dup (p.Ile740fs)
|
rs587778989
|
|
NM_000249.4(MLH1):c.2219del (p.Ile740fs)
|
rs1575640960
|
|
NM_000249.4(MLH1):c.2221del (p.Leu741fs)
|
|
|
NM_000249.4(MLH1):c.2223_2233del (p.Gln742fs)
|
rs267607897
|
|
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)
|
rs587778992
|
|
NM_000249.4(MLH1):c.2224del (p.Gln742fs)
|
rs267607896
|
|
NM_000249.4(MLH1):c.2236_2237insG (p.Leu746fs)
|
|
|
NM_000249.4(MLH1):c.2236dup (p.Leu746fs)
|
rs1553665977
|
|
NM_000249.4(MLH1):c.2245_2246del (p.Leu749fs)
|
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2249dup (p.Tyr750Ter)
|
rs878853787
|
|
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
|
|
|
NM_000249.4(MLH1):c.2251A>T (p.Lys751Ter)
|
rs786204318
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2253del (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2259del (p.Phe753fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.2259dup (p.Glu754Ter)
|
|
|
NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)
|
rs267607900
|
|
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs)
|
rs1559597322
|
|
NM_000249.4(MLH1):c.2265G>T (p.Arg755Ser)
|
|
|
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)
|
rs267607892
|
|
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?)
|
rs1553666143
|
|
NM_000249.4(MLH1):c.227dup (p.Cys77fs)
|
rs2125735738
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
NM_000249.4(MLH1):c.22_32dup (p.Asp12fs)
|
rs2125693589
|
|
NM_000249.4(MLH1):c.22del (p.Ile8fs)
|
rs2125693612
|
|
NM_000249.4(MLH1):c.22dup (p.Ile8fs)
|
rs587778996
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.231_232del (p.Cys77_Glu78delinsTer)
|
rs63750052
|
|
NM_000249.4(MLH1):c.232G>T (p.Glu78Ter)
|
|
|
NM_000249.4(MLH1):c.232_243delinsATGTAAGG (p.Glu78_Thr81delinsMetTer)
|
rs1575414321
|
|
NM_000249.4(MLH1):c.232del (p.Glu78fs)
|
rs587778997
|
|
NM_000249.4(MLH1):c.239del (p.Phe80fs)
|
|
|
NM_000249.4(MLH1):c.23_38del (p.Ile8fs)
|
|
|
NM_000249.4(MLH1):c.244dup (p.Thr82fs)
|
rs267607729
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
NM_000249.4(MLH1):c.251_255del (p.Lys84fs)
|
|
|
NM_000249.4(MLH1):c.252del (p.Lys84fs)
|
rs876660822
|
|
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)
|
rs63751421
|
|
NM_000249.4(MLH1):c.258del (p.Gln86fs)
|
|
|
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)
|
rs869312767
|
|
NM_000249.4(MLH1):c.261del (p.Phe88fs)
|
rs267607728
|
|
NM_000249.4(MLH1):c.264dup (p.Glu89Ter)
|
|
|
NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)
|
rs11541859
|
|
NM_000249.4(MLH1):c.268del (p.Asp90fs)
|
rs1060500688
|
|
NM_000249.4(MLH1):c.272T>G (p.Leu91Ter)
|
rs63751137
|
|
NM_000249.4(MLH1):c.279dup (p.Ile94fs)
|
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.286delinsGC (p.Thr96fs)
|
|
|
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter)
|
rs1575414904
|
|
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)
|
rs63750266
|
|
NM_000249.4(MLH1):c.299dup (p.Gly101fs)
|
|
|
NM_000249.4(MLH1):c.2T>A (p.Met1Lys)
|
rs111052004
|
|
NM_000249.4(MLH1):c.2T>C (p.Met1Thr)
|
rs111052004
|
|
NM_000249.4(MLH1):c.2T>G (p.Met1Arg)
|
rs111052004
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)
|
|
|
NM_000249.4(MLH1):c.306+1222A>G
|
|
|
NM_000249.4(MLH1):c.306+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+1G>C
|
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
NM_000249.4(MLH1):c.306+2dup
|
rs267607738
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.307-1420_380+624del
|
|
|
NM_000249.4(MLH1):c.307-244_454-364del
|
|
|
NM_000249.4(MLH1):c.307-2A>C
|
rs267607732
|
|
NM_000249.4(MLH1):c.307-2A>G
|
rs267607732
|
|
NM_000249.4(MLH1):c.307-797_677+1061del
|
|
|
NM_000249.4(MLH1):c.307-820_380+896del
|
|
|
NM_000249.4(MLH1):c.30del (p.Leu11fs)
|
|
|
NM_000249.4(MLH1):c.313dup (p.Ala105fs)
|
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys)
|
rs63750507
|
|
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)
|
rs63750507
|
|
NM_000249.4(MLH1):c.322_335del (p.Ser108fs)
|
rs1553641269
|
|
NM_000249.4(MLH1):c.325del (p.His109fs)
|
rs1553641273
|
|
NM_000249.4(MLH1):c.333_334del (p.His112fs)
|
|
|
NM_000249.4(MLH1):c.341del (p.Thr114fs)
|
rs63750645
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.346dup (p.Thr116fs)
|
rs267607739
|
|
NM_000249.4(MLH1):c.347del (p.Thr116fs)
|
rs876661159
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.354_355dup (p.Thr119fs)
|
rs63750658
|
|
NM_000249.4(MLH1):c.358_361dup (p.Asp121delinsGlyTer)
|
|
|
NM_000249.4(MLH1):c.35del (p.Asp12fs)
|
rs2125693787
|
|
NM_000249.4(MLH1):c.365del (p.Gly122fs)
|
rs2125757477
|
|
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
|
|
|
NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)
|
rs63750542
|
|
NM_000249.4(MLH1):c.372_373del (p.Ala125fs)
|
rs587779006
|
|
NM_000249.4(MLH1):c.378C>A (p.Tyr126Ter)
|
|
|
NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)
|
rs63751606
|
|
NM_000249.4(MLH1):c.378del (p.Ala125_Tyr126insTer)
|
rs63751607
|
|
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37del (p.Glu13fs)
|
rs63750081
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1G>C
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1G>T
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+2T>A
|
rs267607742
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)
|
rs63751595
|
|
NM_000249.4(MLH1):c.381-1G>A
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-1G>T
|
|
|
NM_000249.4(MLH1):c.381-2A>G
|
rs267607743
|
|
NM_000249.4(MLH1):c.381-2A>T
|
rs267607743
|
|
NM_000249.4(MLH1):c.381-415_453+733del
|
|
|
NM_000249.4(MLH1):c.382G>C (p.Ala128Pro)
|
rs63750866
|
|
NM_000249.4(MLH1):c.382_402delinsT (p.Ala128fs)
|
rs267607746
|
|
NM_000249.4(MLH1):c.382del (p.Ala128fs)
|
rs63750865
|
|
NM_000249.4(MLH1):c.383del (p.Ala128fs)
|
rs2125772569
|
|
NM_000249.4(MLH1):c.385_386delinsGTT (p.Ser129fs)
|
rs63751710
|
|
NM_000249.4(MLH1):c.386del (p.Ser129fs)
|
|
|
NM_000249.4(MLH1):c.388del (p.Tyr130fs)
|
rs587779009
|
|
NM_000249.4(MLH1):c.389del (p.Tyr130fs)
|
rs587779012
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.38dup (p.Thr14fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter)
|
rs1060500689
|
|
NM_000249.4(MLH1):c.392C>A (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.393_396del (p.Asp132fs)
|
rs1559521039
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)
|
rs63751124
|
|
NM_000249.4(MLH1):c.39_40dup (p.Thr14fs)
|
rs587779013
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.402dup (p.Leu135fs)
|
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
NM_000249.4(MLH1):c.404dup (p.Lys136fs)
|
rs1553642079
|
|
NM_000249.4(MLH1):c.406A>T (p.Lys136Ter)
|
rs1575440595
|
|
NM_000249.4(MLH1):c.412_413dup (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.416del (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.418A>T (p.Lys140Ter)
|
|
|
NM_000249.4(MLH1):c.420del (p.Lys140fs)
|
rs587779015
|
|
NM_000249.4(MLH1):c.424_446del (p.Cys142fs)
|
|
|
NM_000249.4(MLH1):c.428del (p.Ala143fs)
|
|
|
NM_000249.4(MLH1):c.428dup (p.Gly144fs)
|
rs63751045
|
|
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)
|
rs63749820
|
|
NM_000249.4(MLH1):c.43del (p.Val15fs)
|
|
|
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)
|
rs63751302
|
|
NM_000249.4(MLH1):c.44dup (p.Val16fs)
|
rs63751131
|
|
NM_000249.4(MLH1):c.453+1G>A
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>C
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+2T>A
|
|
|
NM_000249.4(MLH1):c.453+2T>C
|
rs267607751
|
|
NM_000249.4(MLH1):c.453+2T>G
|
rs267607751
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-2A>C
|
rs267607753
|
|
NM_000249.4(MLH1):c.454-2A>G
|
rs267607753
|
|
NM_000249.4(MLH1):c.454-432_546-1030del
|
|
|
NM_000249.4(MLH1):c.454-466_546-1062del
|
|
|
NM_000249.4(MLH1):c.454-501_546-1098del
|
|
|
NM_000249.4(MLH1):c.454-665_545+49del
|
rs1553642492
|
|
NM_000249.4(MLH1):c.456_545+2del
|
rs1553642657
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.461del (p.Asp154fs)
|
|
|
NM_000249.4(MLH1):c.463_464insG (p.Leu155fs)
|
rs2125783563
|
|
NM_000249.4(MLH1):c.463del (p.Leu155fs)
|
rs2082049708
|
|
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg)
|
rs63750891
|
|
NM_000249.4(MLH1):c.468_469del (p.Phe156fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.471C>A (p.Tyr157Ter)
|
rs74396541
|
|
NM_000249.4(MLH1):c.471C>G (p.Tyr157Ter)
|
|
|
NM_000249.4(MLH1):c.473del (p.Asn158fs)
|
rs2082051355
|
|
NM_000249.4(MLH1):c.474del (p.Asn158fs)
|
rs1559524070
|
|
NM_000249.4(MLH1):c.47_53del (p.Val16fs)
|
rs876658923
|
|
NM_000249.4(MLH1):c.488del (p.Arg163fs)
|
rs267607754
|
|
NM_000249.4(MLH1):c.492del (p.Ala165fs)
|
rs1553642698
|
|
NM_000249.4(MLH1):c.493del (p.Ala165fs)
|
rs1553642707
|
|
NM_000249.4(MLH1):c.497T>A (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.497del (p.Ala165_Leu166insTer)
|
rs587779018
|
|
NM_000249.4(MLH1):c.497dup (p.Leu166fs)
|
rs587779018
|
|
NM_000249.4(MLH1):c.502_503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.509del (p.Ser170fs)
|
rs2082057042
|
|
NM_000249.4(MLH1):c.513del (p.Glu172fs)
|
rs63749944
|
|
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)
|
rs1559524405
|
|
NM_000249.4(MLH1):c.519T>A (p.Tyr173Ter)
|
|
|
NM_000249.4(MLH1):c.524_525insGA (p.Ile176fs)
|
rs587779019
|
|
NM_000249.4(MLH1):c.526del (p.Ile176fs)
|
rs1575449093
|
|
NM_000249.4(MLH1):c.52_59del (p.Arg18fs)
|
rs2125694037
|
|
NM_000249.4(MLH1):c.52del (p.Arg18fs)
|
rs63749804
|
|
NM_000249.4(MLH1):c.531_532delinsAT (p.Glu178Ter)
|
rs63750903
|
|
NM_000249.4(MLH1):c.531_532delinsCT (p.Leu177_Glu178delinsPheTer)
|
rs63750903
|
|
NM_000249.4(MLH1):c.532G>T (p.Glu178Ter)
|
rs1248251121
|
|
NM_000249.4(MLH1):c.532del (p.Glu178fs)
|
|
|
NM_000249.4(MLH1):c.534del (p.Val179fs)
|
|
|
NM_000249.4(MLH1):c.542del (p.Gly181fs)
|
rs1553642777
|
|
NM_000249.4(MLH1):c.543C>T (p.Gly181=)
|
rs1481129490
|
|
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)
|
rs63750211
|
|
NM_000249.4(MLH1):c.545+1G>A
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+1G>C
|
|
|
NM_000249.4(MLH1):c.545+1G>T
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+2T>A
|
|
|
NM_000249.4(MLH1):c.545+2T>C
|
rs1575449402
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)
|
rs587779021
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>C
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>C
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>G
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2_589-59del
|
rs2125805231
|
|
NM_000249.4(MLH1):c.546-361_885-811del
|
|
|
NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)
|
rs1064796057
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
NM_000249.4(MLH1):c.556del (p.His186fs)
|
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.55_63delinsT (p.Ile19fs)
|
rs2125694105
|
|
NM_000249.4(MLH1):c.560dup (p.Asn187fs)
|
|
|
NM_000249.4(MLH1):c.562_581del (p.Asn187_Ala188insTer)
|
|
|
NM_000249.4(MLH1):c.562dup (p.Ala188fs)
|
|
|
NM_000249.4(MLH1):c.56del (p.Ile19fs)
|
|
|
NM_000249.4(MLH1):c.574_588+2del
|
rs587779023
|
|
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)
|
rs63751480
|
|
NM_000249.4(MLH1):c.582del (p.Lys196fs)
|
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.586A>T (p.Lys196Ter)
|
rs63750500
|
|
NM_000249.4(MLH1):c.588+1G>A
|
|
|
NM_000249.4(MLH1):c.588+1G>T
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+2T>A
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+2T>C
|
|
|
NM_000249.4(MLH1):c.588+2T>G
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.588dup (p.Gln197fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)
|
rs1553644123
|
|
NM_000249.4(MLH1):c.592G>T (p.Gly198Ter)
|
rs2125808143
|
|
NM_000249.4(MLH1):c.592_598del (p.Gly198fs)
|
|
|
NM_000249.4(MLH1):c.597_598del (p.Glu199fs)
|
rs63751637
|
|
NM_000249.4(MLH1):c.597_598dup (p.Thr200fs)
|
|
|
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)
|
rs587779029
|
|
NM_000249.4(MLH1):c.604del (p.Ala202fs)
|
rs1553644155
|
|
NM_000249.4(MLH1):c.61del (p.Ala21fs)
|
rs63750581
|
|
NM_000249.4(MLH1):c.620dup (p.Pro208fs)
|
|
|
NM_000249.4(MLH1):c.626del (p.Asn209fs)
|
rs1559530646
|
|
NM_000249.4(MLH1):c.62C>A (p.Ala21Glu)
|
rs63750706
|
|
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)
|
rs63750706
|
|
NM_000249.4(MLH1):c.62_68delinsTT (p.Ala21fs)
|
|
|
NM_000249.4(MLH1):c.62del (p.Ala21fs)
|
|
|
NM_000249.4(MLH1):c.631_632del (p.Ser211fs)
|
rs2125808812
|
|
NM_000249.4(MLH1):c.632_633insT (p.Thr212fs)
|
rs63750908
|
|
NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer)
|
rs1575469070
|
|
NM_000249.4(MLH1):c.63_76delinsCGCATT (p.Gly22fs)
|
|
|
NM_000249.4(MLH1):c.63_82del (p.Gly22fs)
|
rs1575376458
|
|
NM_000249.4(MLH1):c.648del (p.Arg217fs)
|
|
|
NM_000249.4(MLH1):c.649del (p.Arg217fs)
|
rs63750380
|
|
NM_000249.4(MLH1):c.650del (p.Arg217fs)
|
|
|
NM_000249.4(MLH1):c.654del (p.Ile219fs)
|
rs2125809242
|
|
NM_000249.4(MLH1):c.654dup (p.Ile219fs)
|
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.665dup (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.672del (p.Ser225fs)
|
rs587779031
|
|
NM_000249.4(MLH1):c.672dup (p.Ser225Ter)
|
|
|
NM_000249.4(MLH1):c.673_676del (p.Ser225fs)
|
rs267607774
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1del
|
rs267607779
|
|
NM_000249.4(MLH1):c.677+2T>C
|
rs1553644277
|
|
NM_000249.4(MLH1):c.677+2T>G
|
rs1553644277
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+5G>A
|
rs587779034
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677_677+1delinsAT
|
rs587779032
|
|
NM_000249.4(MLH1):c.678-1G>C
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-20_693del
|
rs2082517369
|
|
NM_000249.4(MLH1):c.678-2A>G
|
rs587779035
|
|
NM_000249.4(MLH1):c.678-3T>A
|
rs267607785
|
|
NM_000249.4(MLH1):c.678-3_678-2del
|
rs267607783
|
|
NM_000249.4(MLH1):c.678-9_693del
|
rs587779036
|
|
NM_000249.4(MLH1):c.679_688dup (p.Glu230fs)
|
rs2125821720
|
|
NM_000249.4(MLH1):c.679del (p.Glu227fs)
|
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.67dup (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.683dup (p.Ile229fs)
|
rs63751659
|
|
NM_000249.4(MLH1):c.688G>T (p.Glu230Ter)
|
rs1466223609
|
|
NM_000249.4(MLH1):c.688_691del (p.Glu230fs)
|
|
|
NM_000249.4(MLH1):c.68_72delinsCTA (p.Glu23fs)
|
rs2080898853
|
|
NM_000249.4(MLH1):c.691del (p.Ile231fs)
|
rs876658339
|
|
NM_000249.4(MLH1):c.693del (p.Ile231fs)
|
rs63750764
|
|
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg)
|
rs1553645131
|
|
NM_000249.4(MLH1):c.699T>A (p.Cys233Ter)
|
rs764085979
|
|
NM_000249.4(MLH1):c.69del (p.Val24fs)
|
|
|
NM_000249.4(MLH1):c.700G>T (p.Glu234Ter)
|
|
|
NM_000249.4(MLH1):c.704del (p.Asp235fs)
|
|
|
NM_000249.4(MLH1):c.706_725del (p.Lys236fs)
|
rs863224480
|
|
NM_000249.4(MLH1):c.70del (p.Val24fs)
|
rs63751396
|
|
NM_000249.4(MLH1):c.717del (p.Phe240fs)
|
rs1064794373
|
|
NM_000249.4(MLH1):c.71_75del (p.Val24fs)
|
rs1553637293
|
|
NM_000249.4(MLH1):c.727_730del (p.Asn243fs)
|
rs267607787
|
|
NM_000249.4(MLH1):c.729_734del (p.Gly244_Tyr245del)
|
|
|
NM_000249.4(MLH1):c.72_82dup (p.Pro28fs)
|
rs2080899985
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.731_734del (p.Gly244fs)
|
rs587779037
|
|
NM_000249.4(MLH1):c.734dup (p.Tyr245Ter)
|
|
|
NM_000249.4(MLH1):c.735C>A (p.Tyr245Ter)
|
rs1553645226
|
|
NM_000249.4(MLH1):c.735C>G (p.Tyr245Ter)
|
rs1553645226
|
|
NM_000249.4(MLH1):c.735del (p.Gly244_Tyr245insTer)
|
|
|
NM_000249.4(MLH1):c.737del (p.Ile246fs)
|
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
NM_000249.4(MLH1):c.73del (p.Ile25fs)
|
rs63749839
|
|
NM_000249.4(MLH1):c.743del (p.Asn248fs)
|
|
|
NM_000249.4(MLH1):c.745dup (p.Ala249fs)
|
rs63750819
|
|
NM_000249.4(MLH1):c.749_754delinsC (p.Asn250fs)
|
|
|
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)
|
rs63750310
|
|
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer)
|
rs1553645256
|
|
NM_000249.4(MLH1):c.755C>A (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755del (p.Tyr251_Ser252insTer)
|
rs1064793172
|
|
NM_000249.4(MLH1):c.756dup (p.Val253fs)
|
rs2082532798
|
|
NM_000249.4(MLH1):c.760_761insTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGAAGTGCATCTTC (p.Lys254fs)
|
rs2125822944
|
|
NM_000249.4(MLH1):c.768C>A (p.Cys256Ter)
|
rs1575481212
|
|
NM_000249.4(MLH1):c.768del (p.Lys255_Cys256insTer)
|
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000249.4(MLH1):c.76del (p.Gln26fs)
|
rs63749828
|
|
NM_000249.4(MLH1):c.770del (p.Ile257fs)
|
|
|
NM_000249.4(MLH1):c.776_777insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGACGGGAGAGGGAGAGGGAGACGGGATAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGTGAGACGGGAGAGGGAGAGAAGTGCATCTTCTT (p.Leu259delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyArgArgGluArgGluArgGluThrGlyTer)
|
rs2125822971
|
|
NM_000249.4(MLH1):c.776dup (p.Leu259fs)
|
|
|
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg)
|
rs63751283
|
|
NM_000249.4(MLH1):c.77del (p.Gln26fs)
|
rs1575376830
|
|
NM_000249.4(MLH1):c.782TCA[1] (p.Ile262del)
|
rs587779039
|
|
NM_000249.4(MLH1):c.783del (p.Phe261fs)
|
rs2125823340
|
|
NM_000249.4(MLH1):c.783dup (p.Ile262fs)
|
rs1553645331
|
|
NM_000249.4(MLH1):c.78del (p.Gln26fs)
|
rs587779040
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>C
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>T
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1del
|
rs267607798
|
|
NM_000249.4(MLH1):c.790+2T>A
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2_790+24del
|
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.790+3A>T
|
rs267607792
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+5G>A
|
rs267607771
|
|
NM_000249.4(MLH1):c.790+5G>T
|
rs267607771
|
|
NM_000249.4(MLH1):c.790del (p.His264fs)
|
rs2125823466
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-1G>T
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-2A>T
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-4_795del
|
rs587779041
|
|
NM_000249.4(MLH1):c.791-5T>G
|
rs267607788
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793_794delinsGT (p.Arg265Val)
|
rs1559539068
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.794_800del (p.Arg265fs)
|
rs876660458
|
|
NM_000249.4(MLH1):c.796del (p.Leu266fs)
|
rs1553646602
|
|
NM_000249.4(MLH1):c.804del (p.Glu268fs)
|
|
|
NM_000249.4(MLH1):c.805del (p.Ser269fs)
|
|
|
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)
|
rs63750691
|
|
NM_000249.4(MLH1):c.808_811del (p.Thr270fs)
|
rs267607801
|
|
NM_000249.4(MLH1):c.809del (p.Thr270fs)
|
|
|
NM_000249.4(MLH1):c.80_86del (p.Arg27fs)
|
|
|
NM_000249.4(MLH1):c.811_815del (p.Ser271fs)
|
rs587779043
|
|
NM_000249.4(MLH1):c.813del (p.Ser271_Leu272insTer)
|
rs2125837018
|
|
NM_000249.4(MLH1):c.815T>A (p.Leu272Ter)
|
rs63750584
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000249.4(MLH1):c.817A>T (p.Arg273Ter)
|
|
|
NM_000249.4(MLH1):c.821_824dup (p.Ile276fs)
|
rs63751439
|
|
NM_000249.4(MLH1):c.822del (p.Ala275fs)
|
|
|
NM_000249.4(MLH1):c.825del (p.Ala275_Ile276insTer)
|
|
|
NM_000249.4(MLH1):c.826dup (p.Ile276fs)
|
rs878853792
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
NM_000249.4(MLH1):c.828del (p.Ile276fs)
|
|
|
NM_000249.4(MLH1):c.832del (p.Thr278fs)
|
rs1064794122
|
|
NM_000249.4(MLH1):c.833_834dup (p.Val279fs)
|
rs1553646681
|
|
NM_000249.4(MLH1):c.837_838del (p.Tyr280fs)
|
rs2125837477
|
|
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)
|
rs63750792
|
|
NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)
|
rs63750938
|
|
NM_000249.4(MLH1):c.840_846delinsA (p.Tyr280_Ala282delinsTer)
|
|
|
NM_000249.4(MLH1):c.842C>T (p.Ala281Val)
|
rs63749950
|
|
NM_000249.4(MLH1):c.845_858del (p.Ala282fs)
|
rs1559539489
|
|
NM_000249.4(MLH1):c.849T>A (p.Tyr283Ter)
|
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
NM_000249.4(MLH1):c.851T>A (p.Leu284Ter)
|
rs63750889
|
|
NM_000249.4(MLH1):c.856_857insT (p.Lys286fs)
|
rs63750212
|
|
NM_000249.4(MLH1):c.859_860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860dup (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.863_870del (p.Thr288fs)
|
|
|
NM_000249.4(MLH1):c.865del (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.866_867del (p.His289fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.866_867dup (p.Pro290fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.866del (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.866dup (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)
|
rs63750216
|
|
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)
|
rs63750517
|
|
NM_000249.4(MLH1):c.879_880insTGAG (p.Leu294Ter)
|
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+1G>A
|
rs1553646764
|
|
NM_000249.4(MLH1):c.884+1_884+2del
|
|
|
NM_000249.4(MLH1):c.884+1_884+2insATGGG
|
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
NM_000249.4(MLH1):c.884+4A>G
|
rs267607777
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884_884+3del
|
rs587779050
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-1G>C
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-206_997del
|
rs1553647795
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
NM_000249.4(MLH1):c.885-2A>T
|
rs267607805
|
|
NM_000249.4(MLH1):c.885-493_1039-372del
|
|
|
NM_000249.4(MLH1):c.885-594_1038+1123del
|
|
|
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
|
|
|
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.887_890del (p.Ser295_Leu296insTer)
|
|
|
NM_000249.4(MLH1):c.887dup (p.Leu296fs)
|
rs63751620
|
|
NM_000249.4(MLH1):c.888_890delinsC (p.Leu296fs)
|
|
|
NM_000249.4(MLH1):c.888del (p.Glu297fs)
|
rs267607809
|
|
NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)
|
rs63750736
|
|
NM_000249.4(MLH1):c.898_908del (p.Pro300fs)
|
rs1553647928
|
|
NM_000249.4(MLH1):c.8del (p.Phe3fs)
|
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.901del (p.Gln301fs)
|
rs587779052
|
|
NM_000249.4(MLH1):c.905del (p.Asn302fs)
|
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000249.4(MLH1):c.912_923del (p.Val305_His308del)
|
rs1064792918
|
|
NM_000249.4(MLH1):c.912dup (p.Val305fs)
|
|
|
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)
|
rs587779054
|
|
NM_000249.4(MLH1):c.918del (p.Asn306fs)
|
rs876660214
|
|
NM_000249.4(MLH1):c.921_922dup (p.His308fs)
|
rs63750962
|
|
NM_000249.4(MLH1):c.923del (p.His308fs)
|
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.928del (p.Thr310fs)
|
rs587779055
|
|
NM_000249.4(MLH1):c.929_930del (p.Thr310fs)
|
rs2125852740
|
|
NM_000249.4(MLH1):c.932del (p.Lys311fs)
|
|
|
NM_000249.4(MLH1):c.935dup (p.His312fs)
|
rs63750319
|
|
NM_000249.4(MLH1):c.939dup (p.Val314fs)
|
rs63751259
|
|
NM_000249.4(MLH1):c.93del (p.Ile32fs)
|
|
|
NM_000249.4(MLH1):c.940del (p.Val314fs)
|
rs1553648023
|
|
NM_000249.4(MLH1):c.949del (p.Leu317fs)
|
rs1553648029
|
|
NM_000249.4(MLH1):c.94del (p.Ile32fs)
|
rs1064793607
|
|
NM_000249.4(MLH1):c.954del (p.His318fs)
|
rs63749926
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
NM_000249.4(MLH1):c.957_959delinsT (p.Glu319fs)
|
rs1559544064
|
|
NM_000249.4(MLH1):c.958G>T (p.Glu320Ter)
|
rs1553648040
|
|
NM_000249.4(MLH1):c.958del (p.Glu320fs)
|
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
NM_000249.4(MLH1):c.961_962dup (p.Ser321fs)
|
rs878853794
|
|
NM_000249.4(MLH1):c.967del (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.967dup (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000249.4(MLH1):c.970del (p.Glu324fs)
|
rs876658247
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
NM_000249.4(MLH1):c.976del (p.Val326fs)
|
rs786204317
|
|
NM_000249.4(MLH1):c.976dup (p.Val326fs)
|
|
|
NM_000249.4(MLH1):c.978_979delinsTT (p.Gln327Ter)
|
|
|
NM_000249.4(MLH1):c.979C>T (p.Gln327Ter)
|
rs587782087
|
|
NM_000249.4(MLH1):c.979dup (p.Gln327fs)
|
rs2125853842
|
|
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)
|
rs587779058
|
|
NM_000249.4(MLH1):c.986A>C (p.His329Pro)
|
rs63750710
|
|
NM_000249.4(MLH1):c.990del (p.Ile330fs)
|
|
|
NM_000249.4(MLH1):c.991G>T (p.Glu331Ter)
|
|
|
NM_000249.4(MLH1):c.992del (p.Glu331fs)
|
|
|
NM_000249.4(MLH1):c.994del (p.Ser332fs)
|
rs63750533
|
|
NM_000249.4(MLH1):c.994dup (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.996del (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)
|
rs1553648149
|
|
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)
|
rs1064795341
|
|
NM_000249.4(MLH1):c.9del (p.Phe3fs)
|
rs63750745
|
|
NM_000251.1(MSH2):c.(?_-68)_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1276+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1386+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1661+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1759+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_211+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_2634+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_366+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_645+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_792+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_942+?del
|
|
|
NM_000251.1(MSH2):c.-11844_1077-6021delins155
|
|
|
NM_000251.1(MSH2):c.-1753_645+922del
|
|
|
NM_000251.1(MSH2):c.-35298_1276+5697del
|
|
|
NM_000251.1(MSH2):c.-47156_1277-4980del
|
|
|
NM_000251.1(MSH2):c.-4729_367-353del
|
|
|
NM_000251.1(MSH2):c.-75398_1759+1708del
|
|
|
NM_000251.1(MSH2):c.-823_1076+5984del
|
|
|
NM_000251.1(MSH2):c.-956_1077-5607del
|
|
|
NM_000251.1(MSH2):c.1077-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1276+232_1386+3798del
|
|
|
NM_000251.1(MSH2):c.1277-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1387-3976_1662-364del
|
|
|
NM_000251.1(MSH2):c.1387-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1662-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1760-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.211+1566_1277-3954del
|
|
|
NM_000251.1(MSH2):c.2459-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.2635-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.645+539_1077-3451del
|
|
|
NM_000251.1(MSH2):c.645+791_1076+4894del
|
|
|
NM_000251.1(MSH2):c.645+967_1076+5075del
|
|
|
NM_000251.1(MSH2):c.646-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.943-926_1077-1449del
|
|
|
NM_000251.1(MSH2):c.972_973insNM_002133.2:c.737-1292_737-1109
|
|
|
NM_000251.2(MSH2):c.(?_-1)_1076+?del
|
|
|
NM_000251.2(MSH2):c.(?_-68)_1076+?del
|
|
|
NM_000251.2(MSH2):c.-125_1076+?del
|
|
|
NM_000251.2(MSH2):c.-125_645+?del
|
|
|
NM_000251.2(MSH2):c.1077-66_1146del
|
rs193922372
|
|
NM_000251.2(MSH2):c.1077-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_1276+?dup200
|
|
|
NM_000251.2(MSH2):c.1077-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_1661+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_2005+?del
|
|
|
NM_000251.2(MSH2):c.1077_1078ins173 (p.?)
|
|
|
NM_000251.2(MSH2):c.1277-6224_1386+4836del
|
|
|
NM_000251.2(MSH2):c.1277-6284_1386+4776del
|
|
|
NM_000251.2(MSH2):c.1277-?_*(272_?)inv
|
|
|
NM_000251.2(MSH2):c.1277-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.1277-?_1661+?del
|
|
|
NM_000251.2(MSH2):c.1277-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.1277-?_2634+?del
|
|
|
NM_000251.2(MSH2):c.1311_1334del24insNM_000251.1:c.1338_1361inv24 (p.Thr438_Ser445delinsPheSerLysPheGlnGluMetIle)
|
|
|
NM_000251.2(MSH2):c.1387-?_1510+?del
|
|
|
NM_000251.2(MSH2):c.1387-?_1661+?del
|
|
|
NM_000251.2(MSH2):c.1387-?_1661+?dup275
|
|
|
NM_000251.2(MSH2):c.1387-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.1511-?_2005+?del
|
|
|
NM_000251.2(MSH2):c.1662-?_*(1_?)del
|
|
|
NM_000251.2(MSH2):c.1662-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.1662-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2005+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2210+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.2006-?_2210+?del
|
|
|
NM_000251.2(MSH2):c.2048_2111dup (p.Ile704Metfs)
|
rs1553369051
|
|
NM_000251.2(MSH2):c.212-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.212-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.212-?_1510+?del
|
|
|
NM_000251.2(MSH2):c.212-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.212-?_366+?del
|
|
|
NM_000251.2(MSH2):c.212-?_645+?del
|
|
|
NM_000251.2(MSH2):c.2211-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.2459-?_2634+?del
|
|
|
NM_000251.2(MSH2):c.2620_2621ins115 (p.?)
|
|
|
NM_000251.2(MSH2):c.367-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.367-?_645+?del
|
|
|
NM_000251.2(MSH2):c.367-?_942+?del
|
|
|
NM_000251.2(MSH2):c.646-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.646-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.646-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.646-?_792+?del
|
|
|
NM_000251.2(MSH2):c.646-?_942+?del
|
|
|
NM_000251.2(MSH2):c.793-?_1276+?del484
|
|
|
NM_000251.2(MSH2):c.793-?_1386+?deldel594
|
|
|
NM_000251.2(MSH2):c.793-?_942+?del
|
|
|
NM_000251.2(MSH2):c.943-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.970_971ins4
|
|
|
NM_000251.3(MSH2):c.(1276+1_1277-1)_(1661+1_1662-1)del
|
|
|
NM_000251.3(MSH2):c.(1276+1_1277-1)_(2634+1_2635-1)del
|
|
|
NM_000251.3(MSH2):c.(211+1_212-1)_(1076+1_1077-1)del (p.Gly71Aspfs*2)
|
|
|
NM_000251.3(MSH2):c.(792+1_793-1)_(1076+1_1077-1)del (p.Val265Ilefs*29)
|
|
|
NM_000251.3(MSH2):c.-1_211+1177del
|
|
|
NM_000251.3(MSH2):c.-2_211+156del
|
rs2103865247
|
|
NM_000251.3(MSH2):c.-2_211+1del
|
rs2103865151
|
|
NM_000251.3(MSH2):c.-4_211+864del
|
|
|
NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)
|
rs587779063
|
|
NM_000251.3(MSH2):c.1003del (p.Thr335fs)
|
rs1673074932
|
|
NM_000251.3(MSH2):c.1003dup (p.Thr335fs)
|
|
|
NM_000251.3(MSH2):c.1007_1010dup (p.Gln337fs)
|
|
|
NM_000251.3(MSH2):c.1007del (p.Pro336fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1007dup (p.Gln337fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1008del (p.Gln337fs)
|
rs879253899
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1009dup (p.Gln337fs)
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)
|
|
|
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
NM_000251.3(MSH2):c.1017_1018del (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)
|
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)
|
rs63751147
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.102dup (p.Arg35fs)
|
rs1672241024
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1030del (p.Gln344fs)
|
|
|
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)
|
rs63751027
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1036_1037dup (p.Lys347fs)
|
|
|
NM_000251.3(MSH2):c.1037_1038dup (p.Lys347fs)
|
rs63751483
|
|
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)
|
rs979212552
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
NM_000251.3(MSH2):c.1043del (p.Gln348fs)
|
rs1114167809
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1049_1050del (p.Leu350fs)
|
|
|
NM_000251.3(MSH2):c.1051dup (p.Met351fs)
|
|
|
NM_000251.3(MSH2):c.1056_1057insCCAT (p.Lys353delinsProTer)
|
|
|
NM_000251.3(MSH2):c.1058del (p.Lys353fs)
|
rs1573456772
|
|
NM_000251.3(MSH2):c.1059del (p.Asn354fs)
|
rs587779068
|
|
NM_000251.3(MSH2):c.1071_1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)
|
rs587779070
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>C
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+2T>A
|
|
|
NM_000251.3(MSH2):c.1076+2T>G
|
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1076_1077dup (p.Leu360fs)
|
rs1114167858
|
|
NM_000251.3(MSH2):c.1077-135_1276+119dup
|
rs1553356484
|
|
NM_000251.3(MSH2):c.1077-1865_1276+742del
|
|
|
NM_000251.3(MSH2):c.1077-1G>C
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-1G>T
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-220_1276+6245del
|
|
|
NM_000251.3(MSH2):c.1077-2A>C
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>G
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>T
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2_1276+1del
|
rs2104435254
|
|
NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)
|
rs63751617
|
|
NM_000251.3(MSH2):c.1077_1276del
|
rs1553356518
|
|
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1097_1098insA (p.Phe366fs)
|
rs267607693
|
|
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
|
|
|
NM_000251.3(MSH2):c.1098del (p.Phe366fs)
|
|
|
NM_000251.3(MSH2):c.1099del (p.Phe366_Val367insTer)
|
rs587779073
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
NM_000251.3(MSH2):c.1102G>T (p.Glu368Ter)
|
rs1673931379
|
|
NM_000251.3(MSH2):c.1108del (p.Ala370fs)
|
rs63749814
|
|
NM_000251.3(MSH2):c.110del (p.Phe37fs)
|
rs63751056
|
|
NM_000251.3(MSH2):c.1111G>T (p.Glu371Ter)
|
rs1060501994
|
|
NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)
|
|
|
NM_000251.3(MSH2):c.1115del (p.Glu371_Leu372insTer)
|
|
|
NM_000251.3(MSH2):c.1119del (p.Arg373fs)
|
rs63750516
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)
|
rs786203350
|
|
NM_000251.3(MSH2):c.1126_1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)
|
|
|
NM_000251.3(MSH2):c.1127_1128dup (p.Gln377fs)
|
rs63751219
|
|
NM_000251.3(MSH2):c.1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1138_1153dup (p.Pro385fs)
|
|
|
NM_000251.3(MSH2):c.1139T>A (p.Leu380Ter)
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1139del (p.Leu380fs)
|
rs63750039
|
|
NM_000251.3(MSH2):c.1140_1141del (p.Leu380fs)
|
|
|
NM_000251.3(MSH2):c.1144del (p.Arg382fs)
|
rs1553356605
|
|
NM_000251.3(MSH2):c.1144dup (p.Arg382fs)
|
rs63750496
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1151dup (p.Asp386fs)
|
rs1573484655
|
|
NM_000251.3(MSH2):c.1157dup (p.Asp386fs)
|
rs730881774
|
|
NM_000251.3(MSH2):c.115del (p.Arg39fs)
|
rs1553348794
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
NM_000251.3(MSH2):c.1164_1165delinsGT (p.Asn388_Arg389delinsLysTer)
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1165del (p.Arg389fs)
|
rs2104439370
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1182del (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)
|
rs63750302
|
|
NM_000251.3(MSH2):c.1183_1184insCAGTTTC (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1186A>T (p.Arg396Ter)
|
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.1192dup (p.Ala398fs)
|
rs63751169
|
|
NM_000251.3(MSH2):c.1195del (p.Ala399fs)
|
|
|
NM_000251.3(MSH2):c.1196_1197dup (p.Asn400fs)
|
rs63749850
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)
|
rs1558451119
|
|
NM_000251.3(MSH2):c.11dup (p.Pro5fs)
|
rs730881775
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs)
|
rs1558478567
|
|
NM_000251.3(MSH2):c.1202dup (p.Leu401fs)
|
|
|
NM_000251.3(MSH2):c.1203_1204insTAA (p.Gln402Ter)
|
|
|
NM_000251.3(MSH2):c.1203dup (p.Gln402fs)
|
rs63750586
|
|
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1204del (p.Gln402fs)
|
rs63751413
|
|
NM_000251.3(MSH2):c.1214dup (p.Tyr405Ter)
|
rs2104441586
|
|
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1216_1219dup (p.Leu407fs)
|
rs63751192
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
NM_000251.3(MSH2):c.1221dup (p.Tyr408fs)
|
|
|
NM_000251.3(MSH2):c.1222_1223insTT (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1228_1240delinsTACAA (p.Gly410fs)
|
|
|
NM_000251.3(MSH2):c.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)
|
|
|
NM_000251.3(MSH2):c.1230_1231insTT (p.Ile411fs)
|
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1237del (p.Gln413fs)
|
|
|
NM_000251.3(MSH2):c.1242_1248dup (p.Val417delinsThrTer)
|
|
|
NM_000251.3(MSH2):c.1242_1260del (p.Pro415fs)
|
|
|
NM_000251.3(MSH2):c.1243_1246del (p.Pro415fs)
|
rs63751206
|
|
NM_000251.3(MSH2):c.1246_1247delinsT (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs)
|
rs1553356720
|
|
NM_000251.3(MSH2):c.1248_1253delinsATCA (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1248dup (p.Val417fs)
|
|
|
NM_000251.3(MSH2):c.1249_1253del (p.Val417fs)
|
rs587779079
|
|
NM_000251.3(MSH2):c.1249del (p.Val417fs)
|
rs63751059
|
|
NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)
|
rs587782561
|
|
NM_000251.3(MSH2):c.1251_1264del (p.Ile418fs)
|
rs2104443257
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1253_1254insGTAT (p.Ile418fs)
|
|
|
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)
|
rs63750006
|
|
NM_000251.3(MSH2):c.1258_1259del (p.Ala420fs)
|
|
|
NM_000251.3(MSH2):c.125_126delinsAA (p.Phe42Ter)
|
|
|
NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1265_1269delinsGAAAAG (p.Glu422fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1269_1270insG (p.His424fs)
|
|
|
NM_000251.3(MSH2):c.1269dup (p.His424fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1270del (p.His424fs)
|
rs2104444013
|
|
NM_000251.3(MSH2):c.1271dup (p.His424fs)
|
rs587783055
|
|
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter)
|
rs1064795063
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)
|
|
|
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
|
|
|
NM_000251.3(MSH2):c.1277-1G>A
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-1G>T
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-2A>G
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2_1386+1del
|
rs2103751857
|
|
NM_000251.3(MSH2):c.1277-4076_1386+1819del
|
|
|
NM_000251.3(MSH2):c.1277-571_1386+2327del
|
|
|
NM_000251.3(MSH2):c.1278_1279insTA (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1278_1386+1del
|
rs1553361141
|
|
NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1281dup (p.His428fs)
|
|
|
NM_000251.3(MSH2):c.1283_1284del (p.His428fs)
|
rs2103752184
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.1285del (p.Gln429fs)
|
rs1114167833
|
|
NM_000251.3(MSH2):c.1287_1293del (p.Gln429fs)
|
|
|
NM_000251.3(MSH2):c.1287dup (p.Lys430fs)
|
rs63751626
|
|
NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)
|
rs63751646
|
|
NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)
|
rs63751315
|
|
NM_000251.3(MSH2):c.1293dup (p.Leu432fs)
|
rs1553361162
|
|
NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)
|
rs63750894
|
|
NM_000251.3(MSH2):c.129del (p.Phe42_Tyr43insTer)
|
|
|
NM_000251.3(MSH2):c.1301del (p.Ala434fs)
|
|
|
NM_000251.3(MSH2):c.1302del (p.Val435fs)
|
rs863225389
|
|
NM_000251.3(MSH2):c.1308del (p.Phe436fs)
|
|
|
NM_000251.3(MSH2):c.1308dup (p.Val437fs)
|
rs1060502035
|
|
NM_000251.3(MSH2):c.1309del (p.Phe436_Val437insTer)
|
|
|
NM_000251.3(MSH2):c.1311_1312dup (p.Thr438fs)
|
|
|
NM_000251.3(MSH2):c.1316_1327del (p.Pro439_Asp442del)
|
|
|
NM_000251.3(MSH2):c.1318_1319del (p.Leu440fs)
|
rs587779083
|
|
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1321del (p.Thr441fs)
|
rs1675069387
|
|
NM_000251.3(MSH2):c.1321dup (p.Thr441fs)
|
rs63750807
|
|
NM_000251.3(MSH2):c.1323dup (p.Asp442Ter)
|
|
|
NM_000251.3(MSH2):c.1326_1333del (p.Asp442_Leu443insTer)
|
|
|
NM_000251.3(MSH2):c.1331_1334del (p.Arg444fs)
|
|
|
NM_000251.3(MSH2):c.1332_1333dup (p.Ser445fs)
|
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
NM_000251.3(MSH2):c.1340_1341insGG (p.Phe447fs)
|
rs267607696
|
|
NM_000251.3(MSH2):c.1344del (p.Lys449fs)
|
rs876658918
|
|
NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)
|
rs63749920
|
|
NM_000251.3(MSH2):c.1345_1348del (p.Lys449fs)
|
rs267607955
|
|
NM_000251.3(MSH2):c.1350del (p.Gln451fs)
|
rs1553361261
|
|
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)
|
rs786201066
|
|
NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)
|
rs63750957
|
|
NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1354_1355insT (p.Glu452fs)
|
rs1114167850
|
|
NM_000251.3(MSH2):c.1354dup (p.Glu452fs)
|
|
|
NM_000251.3(MSH2):c.1357del (p.Glu452_Met453insTer)
|
|
|
NM_000251.3(MSH2):c.1358T>A (p.Met453Lys)
|
rs63750697
|
|
NM_000251.3(MSH2):c.135del (p.His46fs)
|
|
|
NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)
|
|
|
NM_000251.3(MSH2):c.1363del (p.Glu455fs)
|
|
|
NM_000251.3(MSH2):c.1366del (p.Thr456fs)
|
|
|
NM_000251.3(MSH2):c.1367del (p.Thr456fs)
|
|
|
NM_000251.3(MSH2):c.1368_1369del (p.Thr457fs)
|
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
|
rs63750521
|
|
NM_000251.3(MSH2):c.1373del (p.Thr457_Leu458insTer)
|
rs1553361289
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1384dup (p.Gln462fs)
|
rs2103760063
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
NM_000251.3(MSH2):c.1387-2del
|
rs2104082025
|
|
NM_000251.3(MSH2):c.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1390del (p.Glu464fs)
|
rs587779088
|
|
NM_000251.3(MSH2):c.1393_1420del (p.Asn465fs)
|
rs2104082965
|
|
NM_000251.3(MSH2):c.1394del (p.Asn465fs)
|
rs863225390
|
|
NM_000251.3(MSH2):c.1394dup (p.Asn465fs)
|
rs863225390
|
|
NM_000251.3(MSH2):c.1396del (p.His466fs)
|
rs1558508067
|
|
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)
|
rs587779089
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1401dup (p.Phe468fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1404_1410del (p.Phe468fs)
|
rs878853802
|
|
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer)
|
rs1060502027
|
|
NM_000251.3(MSH2):c.1405dup (p.Leu469fs)
|
|
|
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)
|
rs63750384
|
|
NM_000251.3(MSH2):c.1413del (p.Lys471fs)
|
rs1553365719
|
|
NM_000251.3(MSH2):c.1413dup (p.Pro472fs)
|
|
|
NM_000251.3(MSH2):c.1415dup (p.Ser473fs)
|
rs1573547745
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.141_154del (p.Glu48fs)
|
rs863224481
|
|
NM_000251.3(MSH2):c.1422dup (p.Asp475Ter)
|
rs2104086036
|
|
NM_000251.3(MSH2):c.1424dup (p.Asp475fs)
|
|
|
NM_000251.3(MSH2):c.1428del (p.Asn477fs)
|
rs2104086603
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1433_1434del (p.Leu478fs)
|
rs587779091
|
|
NM_000251.3(MSH2):c.1433_1434dup (p.Glu480fs)
|
rs587779091
|
|
NM_000251.3(MSH2):c.1433del (p.Leu478fs)
|
|
|
NM_000251.3(MSH2):c.1438G>T (p.Glu480Ter)
|
rs2104087743
|
|
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
|
rs1666728055
|
|
NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1444A>T (p.Arg482Ter)
|
rs587779092
|
|
NM_000251.3(MSH2):c.1444del (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1445_1449del (p.Arg482fs)
|
rs267607961
|
|
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)
|
rs63749947
|
|
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs)
|
rs63750161
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1457_1460dup (p.Asp487delinsGluTer)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1457del (p.Asn486fs)
|
rs63750986
|
|
NM_000251.3(MSH2):c.145_146del (p.Asp49fs)
|
rs63750334
|
|
NM_000251.3(MSH2):c.145del (p.Asp49fs)
|
rs63750644
|
|
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs)
|
rs876658834
|
|
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1470_1473delinsAAA (p.Met492fs)
|
rs1060502029
|
|
NM_000251.3(MSH2):c.1476_1477delinsCT (p.Met492_Gln493delinsIleTer)
|
rs63750583
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1478del (p.Gln493fs)
|
rs1553365799
|
|
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)
|
rs370970617
|
|
NM_000251.3(MSH2):c.1486_1487dup (p.Leu496fs)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487T>A (p.Leu496Ter)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1487T>G (p.Leu496Ter)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1487_1490del (p.Thr495_Leu496insTer)
|
|
|
NM_000251.3(MSH2):c.1487del (p.Thr495_Leu496insTer)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487dup (p.Leu496fs)
|
|
|
NM_000251.3(MSH2):c.1491_1492insTT (p.Ser498fs)
|
rs1558508343
|
|
NM_000251.3(MSH2):c.1494dup (p.Ala499fs)
|
rs63750362
|
|
NM_000251.3(MSH2):c.1497del (p.Ala500fs)
|
rs63749963
|
|
NM_000251.3(MSH2):c.1500del (p.Arg501fs)
|
|
|
NM_000251.3(MSH2):c.1500dup (p.Arg501fs)
|
rs587779094
|
|
NM_000251.3(MSH2):c.1510+1G>T
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-1G>T
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511del (p.Gly504Alafs)
|
rs2104170912
|
|
NM_000251.3(MSH2):c.1514dup (p.Leu505fs)
|
|
|
NM_000251.3(MSH2):c.1520del (p.Pro507fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1520dup (p.Gly508fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
NM_000251.3(MSH2):c.1530_1531del (p.Gln510fs)
|
rs2104172666
|
|
NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)
|
rs1573553178
|
|
NM_000251.3(MSH2):c.1534_1535delinsG (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs)
|
rs1553366522
|
|
NM_000251.3(MSH2):c.1536del (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.153dup (p.Leu52fs)
|
rs1553348842
|
|
NM_000251.3(MSH2):c.1543_1561del (p.Ser515fs)
|
rs2104173353
|
|
NM_000251.3(MSH2):c.154_155insG (p.Leu52fs)
|
rs63750352
|
|
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)
|
rs63750780
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1557_1567delinsACACAG (p.Phe519fs)
|
|
|
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs)
|
rs1553366561
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)
|
rs1064793561
|
|
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566del (p.Arg524fs)
|
|
|
NM_000251.3(MSH2):c.1568_1570del (p.Phe523_Arg524delinsCys)
|
|
|
NM_000251.3(MSH2):c.1570del (p.Arg524fs)
|
rs1064795653
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1576del (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1576dup (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1578del (p.Cys527fs)
|
rs63750738
|
|
NM_000251.3(MSH2):c.1587_1597delinsT (p.Glu529fs)
|
rs1114167820
|
|
NM_000251.3(MSH2):c.1587del (p.Glu530fs)
|
rs63750845
|
|
NM_000251.3(MSH2):c.158_159dup (p.Ala54fs)
|
|
|
NM_000251.3(MSH2):c.1593del (p.Val532fs)
|
rs1558511051
|
|
NM_000251.3(MSH2):c.1594dup (p.Val532fs)
|
rs63750104
|
|
NM_000251.3(MSH2):c.1597dup (p.Leu533fs)
|
|
|
NM_000251.3(MSH2):c.1600del (p.Arg534fs)
|
|
|
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)
|
rs980244810
|
|
NM_000251.3(MSH2):c.160del (p.Ala54fs)
|
rs876660480
|
|
NM_000251.3(MSH2):c.1613del (p.Asn538fs)
|
rs1558511092
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
NM_000251.3(MSH2):c.1618del (p.Ser540fs)
|
rs1573553636
|
|
NM_000251.3(MSH2):c.1627del (p.Asp543fs)
|
rs63750675
|
|
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)
|
rs1666904987
|
|
NM_000251.3(MSH2):c.1637dup (p.Asn547fs)
|
rs1553366642
|
|
NM_000251.3(MSH2):c.1638_1639dup (p.Asn547fs)
|
rs63750662
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1643del (p.Gly548fs)
|
rs1666905944
|
|
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)
|
rs1114167835
|
|
NM_000251.3(MSH2):c.1656del (p.Asn553fs)
|
rs1114167817
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660A>T (p.Ser554Cys)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660_1661del (p.Ser554fs)
|
rs2104186376
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>C
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1661+2T>G
|
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1662-1_1759+1048del
|
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
NM_000251.3(MSH2):c.1662-2A>T
|
rs267607971
|
|
NM_000251.3(MSH2):c.1662-374_2458+467del
|
|
|
NM_000251.3(MSH2):c.1665del (p.Lys555fs)
|
rs63751120
|
|
NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1667_1668insA (p.Thr557fs)
|
rs1553367587
|
|
NM_000251.3(MSH2):c.1667del (p.Lys555_Leu556insTer)
|
rs267607694
|
|
NM_000251.3(MSH2):c.1667dup (p.Leu556fs)
|
rs267607694
|
|
NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)
|
rs587779102
|
|
NM_000251.3(MSH2):c.166del (p.Glu56fs)
|
rs63750087
|
|
NM_000251.3(MSH2):c.1670del (p.Thr557fs)
|
|
|
NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)
|
|
|
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)
|
rs63750633
|
|
NM_000251.3(MSH2):c.1679_1680insGA (p.Asn560fs)
|
|
|
NM_000251.3(MSH2):c.1679del (p.Asn560fs)
|
rs63750054
|
|
NM_000251.3(MSH2):c.1680dup (p.Glu561Ter)
|
rs2104274481
|
|
NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)
|
rs63750328
|
|
NM_000251.3(MSH2):c.1683del (p.Glu562fs)
|
rs63750406
|
|
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)
|
rs1114167816
|
|
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)
|
rs587779103
|
|
NM_000251.3(MSH2):c.1692_1693del (p.Lys565_Asn566insTer)
|
rs1553367635
|
|
NM_000251.3(MSH2):c.1693A>T (p.Lys565Ter)
|
rs587779104
|
|
NM_000251.3(MSH2):c.1696_1697del (p.Lys565_Asn566insTer)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1696_1702del (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1697dup (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1698del (p.Asn566fs)
|
rs2104275987
|
|
NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)
|
rs63751149
|
|
NM_000251.3(MSH2):c.169del (p.Val57fs)
|
|
|
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)
|
rs63750474
|
|
NM_000251.3(MSH2):c.1702del (p.Thr568fs)
|
|
|
NM_000251.3(MSH2):c.1702dup (p.Thr568fs)
|
rs587779105
|
|
NM_000251.3(MSH2):c.1703_1704del (p.Thr568fs)
|
|
|
NM_000251.3(MSH2):c.1704del (p.Glu569fs)
|
rs1667076589
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1705_1706dup (p.Tyr570fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1705_1706insT (p.Glu569fs)
|
rs587779106
|
|
NM_000251.3(MSH2):c.1707del (p.Glu569fs)
|
|
|
NM_000251.3(MSH2):c.1708del (p.Tyr570fs)
|
rs1131692279
|
|
NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)
|
|
|
NM_000251.3(MSH2):c.1714del (p.Glu572fs)
|
|
|
NM_000251.3(MSH2):c.1717del (p.Ala573fs)
|
rs267607974
|
|
NM_000251.3(MSH2):c.171_172del (p.Phe58fs)
|
|
|
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)
|
rs63751298
|
|
NM_000251.3(MSH2):c.1720del (p.Gln574fs)
|
rs63751299
|
|
NM_000251.3(MSH2):c.1723del (p.Asp575fs)
|
|
|
NM_000251.3(MSH2):c.1731del (p.Ile577fs)
|
|
|
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)
|
rs63751411
|
|
NM_000251.3(MSH2):c.173_174delinsAA (p.Phe58Ter)
|
rs1672250353
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1744del (p.Val582fs)
|
rs587779964
|
|
NM_000251.3(MSH2):c.1746_1747insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATTGTC (p.Val582_Asn583insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlyXaaXaaXaaXaaLysLysLysLysLysLysLysGluIleVal)
|
rs2104278985
|
|
NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs)
|
rs1553367687
|
|
NM_000251.3(MSH2):c.1749dup (p.Ile584fs)
|
|
|
NM_000251.3(MSH2):c.174dup (p.Lys59fs)
|
rs1672250622
|
|
NM_000251.3(MSH2):c.1753del (p.Ser585fs)
|
rs63751433
|
|
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)
|
|
|
NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)
|
rs1114167854
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+1G>C
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+2T>A
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759+305_2006-34del
|
|
|
NM_000251.3(MSH2):c.1759+3A>G
|
rs863224630
|
|
NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1760-2A>G
|
rs1573566175
|
|
NM_000251.3(MSH2):c.1760-2_1783del
|
rs1064795329
|
|
NM_000251.3(MSH2):c.1760-361_2634+838del
|
|
|
NM_000251.3(MSH2):c.1760-3_2005+453del
|
rs2104334736
|
|
NM_000251.3(MSH2):c.1760del (p.Gly587Alafs)
|
rs63750103
|
|
NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter)
|
rs63750844
|
|
NM_000251.3(MSH2):c.1770del (p.Glu590fs)
|
rs1573566217
|
|
NM_000251.3(MSH2):c.1771_1772insA (p.Pro591fs)
|
rs267607977
|
|
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)
|
rs63750200
|
|
NM_000251.3(MSH2):c.1779_1782del (p.Gln593fs)
|
rs63750113
|
|
NM_000251.3(MSH2):c.177_178insTACCCTTGGGGTACAAG (p.Thr60fs)
|
|
|
NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs)
|
rs267607691
|
|
NM_000251.3(MSH2):c.1782dup (p.Leu595fs)
|
rs876658940
|
|
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)
|
rs786201590
|
|
NM_000251.3(MSH2):c.1785dup (p.Asn596fs)
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1787dup (p.Asn596fs)
|
rs587779111
|
|
NM_000251.3(MSH2):c.1788_1789del (p.Asn596fs)
|
rs63750495
|
|
NM_000251.3(MSH2):c.1793del (p.Val598fs)
|
rs786202790
|
|
NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)
|
|
|
NM_000251.3(MSH2):c.1796del (p.Val598_Leu599insTer)
|
rs1060502039
|
|
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs)
|
rs1573566488
|
|
NM_000251.3(MSH2):c.1802_1803dup (p.Leu602fs)
|
|
|
NM_000251.3(MSH2):c.1803dup (p.Leu602fs)
|
rs786203704
|
|
NM_000251.3(MSH2):c.1804_1805insAG (p.Leu602fs)
|
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1809del (p.Asp603fs)
|
rs63751129
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1821_1822insA (p.Phe608fs)
|
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.1828del (p.His610fs)
|
rs2104339867
|
|
NM_000251.3(MSH2):c.182del (p.Gln61fs)
|
rs1553348882
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
NM_000251.3(MSH2):c.1839_1845dup (p.Pro616fs)
|
|
|
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)
|
rs1380847972
|
|
NM_000251.3(MSH2):c.1853del (p.Pro618fs)
|
rs267607984
|
|
NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)
|
rs63750312
|
|
NM_000251.3(MSH2):c.1858_1859dup (p.Arg621fs)
|
rs63750806
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1862_1907del (p.Arg621fs)
|
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865del (p.Pro622fs)
|
|
|
NM_000251.3(MSH2):c.1868_1874del (p.Ala623fs)
|
rs2104342755
|
|
NM_000251.3(MSH2):c.1868_1876delinsTA (p.Ala623fs)
|
|
|
NM_000251.3(MSH2):c.1869del (p.Ile624fs)
|
|
|
NM_000251.3(MSH2):c.186_187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)
|
rs1667240403
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1881del (p.Gly628fs)
|
|
|
NM_000251.3(MSH2):c.1881dup (p.Gly628fs)
|
rs2104343300
|
|
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1883del (p.Gly628fs)
|
rs1064795127
|
|
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)
|
rs63750203
|
|
NM_000251.3(MSH2):c.1887del (p.Gly630fs)
|
|
|
NM_000251.3(MSH2):c.1889_1892del (p.Gly630fs)
|
rs63750960
|
|
NM_000251.3(MSH2):c.1889del (p.Gly630fs)
|
|
|
NM_000251.3(MSH2):c.1897_1910delinsTAATATAATT (p.Ile633_Ser637delinsTer)
|
|
|
NM_000251.3(MSH2):c.1897dup (p.Ile633fs)
|
rs587779114
|
|
NM_000251.3(MSH2):c.1899_1900del (p.Leu634fs)
|
rs1573567022
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1901dup (p.Leu634fs)
|
|
|
NM_000251.3(MSH2):c.1905dup (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1906_2005+8del
|
|
|
NM_000251.3(MSH2):c.1906dup (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1907del (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1908_1923del (p.Ser637fs)
|
|
|
NM_000251.3(MSH2):c.190del (p.Ile64fs)
|
rs1672252966
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.191del (p.Ile64fs)
|
rs1573424223
|
|
NM_000251.3(MSH2):c.1921del (p.Cys641fs)
|
rs1573567132
|
|
NM_000251.3(MSH2):c.1924_1925del (p.Cys641_Val642insTer)
|
rs587779117
|
|
NM_000251.3(MSH2):c.1927del (p.Glu643fs)
|
rs1667245819
|
|
NM_000251.3(MSH2):c.1929dup (p.Val644fs)
|
rs1667245915
|
|
NM_000251.3(MSH2):c.192dup (p.Lys65fs)
|
rs1553348896
|
|
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)
|
rs267607982
|
|
NM_000251.3(MSH2):c.1933del (p.Gln645fs)
|
|
|
NM_000251.3(MSH2):c.1935del (p.Asp646fs)
|
rs1573567212
|
|
NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)
|
rs63750078
|
|
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
|
|
|
NM_000251.3(MSH2):c.193_194insTC (p.Lys65fs)
|
rs1553348898
|
|
NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs)
|
rs1553368675
|
|
NM_000251.3(MSH2):c.1942del (p.Ile648fs)
|
|
|
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)
|
rs1114167844
|
|
NM_000251.3(MSH2):c.1954_1955del (p.Ile651_Pro652insTer)
|
|
|
NM_000251.3(MSH2):c.1959del (p.Asn653fs)
|
rs1573567340
|
|
NM_000251.3(MSH2):c.1960_1966del (p.Asp654fs)
|
|
|
NM_000251.3(MSH2):c.1963_1964del (p.Val655fs)
|
rs864622121
|
|
NM_000251.3(MSH2):c.1967_1970dup (p.Phe657fs)
|
rs587779118
|
|
NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968del (p.Phe657fs)
|
rs1114167805
|
|
NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)
|
|
|
NM_000251.3(MSH2):c.1972_1973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNAGCGCCGCCGCGCCAACCACCAGCCGCGGCCACCATGGCCAGACGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCTTCGACCCTTCTC (p.Glu658fs)
|
rs2104349058
|
|
NM_000251.3(MSH2):c.1980_1981del (p.Asp660fs)
|
rs587779119
|
|
NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)
|
rs1553368707
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
NM_000251.3(MSH2):c.1983del (p.Lys661fs)
|
rs63751055
|
|
NM_000251.3(MSH2):c.1983dup (p.Gln662fs)
|
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs)
|
rs587779121
|
|
NM_000251.3(MSH2):c.1985dup (p.Met663fs)
|
rs1573567537
|
|
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs)
|
rs587779122
|
|
NM_000251.3(MSH2):c.1986del (p.Met663fs)
|
rs63749929
|
|
NM_000251.3(MSH2):c.1989del (p.Met663fs)
|
rs1558518588
|
|
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.1993del (p.His665fs)
|
rs1667251882
|
|
NM_000251.3(MSH2):c.1996_1997del (p.Ile666fs)
|
rs63751700
|
|
NM_000251.3(MSH2):c.1A>G (p.Met1Val)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2001dup (p.Thr668fs)
|
|
|
NM_000251.3(MSH2):c.2003del (p.Thr668fs)
|
rs1573567630
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+255_2089del
|
rs1667266283
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
NM_000251.3(MSH2):c.2006-2_2210+1del
|
rs2104368001
|
|
NM_000251.3(MSH2):c.2006-7_2022del
|
rs2104367794
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2010del (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2012del (p.Asn671fs)
|
|
|
NM_000251.3(MSH2):c.2013del (p.Asn671fs)
|
rs1553368988
|
|
NM_000251.3(MSH2):c.2015del (p.Met672fs)
|
rs63751161
|
|
NM_000251.3(MSH2):c.2018del (p.Gly673fs)
|
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
NM_000251.3(MSH2):c.2021_2022del (p.Gly674fs)
|
rs267608000
|
|
NM_000251.3(MSH2):c.2023A>T (p.Lys675Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
NM_000251.3(MSH2):c.2034T>A (p.Tyr678Ter)
|
rs1558519611
|
|
NM_000251.3(MSH2):c.2035_2036del (p.Ile679fs)
|
rs587779129
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2045_2047delinsTT (p.Thr682fs)
|
rs1553369034
|
|
NM_000251.3(MSH2):c.2046_2047del (p.Val684fs)
|
rs587779131
|
|
NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)
|
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.2052dup (p.Ile685fs)
|
rs1667303361
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2060del (p.Leu687fs)
|
rs1573569948
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.206del (p.Pro69fs)
|
rs1553348904
|
|
NM_000251.3(MSH2):c.2071dup (p.Ile691fs)
|
rs63749878
|
|
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074_2081del (p.Gly692fs)
|
rs587779135
|
|
NM_000251.3(MSH2):c.2082del (p.Phe694fs)
|
rs63750689
|
|
NM_000251.3(MSH2):c.2082dup (p.Val695fs)
|
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
NM_000251.3(MSH2):c.2085dup (p.Pro696fs)
|
rs1553369100
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)
|
rs63750872
|
|
NM_000251.3(MSH2):c.2091dup (p.Glu698Ter)
|
|
|
NM_000251.3(MSH2):c.2096C>A (p.Ser699Ter)
|
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.20dup (p.Thr8fs)
|
rs1672230891
|
|
NM_000251.3(MSH2):c.2100del (p.Glu701fs)
|
rs1553369113
|
|
NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)
|
|
|
NM_000251.3(MSH2):c.2109del (p.Ile704fs)
|
|
|
NM_000251.3(MSH2):c.211+1G>A
|
|
|
NM_000251.3(MSH2):c.211+1G>C
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+1G>T
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+2T>C
|
rs1060501993
|
|
NM_000251.3(MSH2):c.211+2T>G
|
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.2116del (p.Asp706fs)
|
rs1553369131
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-1_366+712del
|
rs2103974925
|
|
NM_000251.3(MSH2):c.212-2A>C
|
rs267607917
|
|
NM_000251.3(MSH2):c.212-2A>T
|
rs267607917
|
|
NM_000251.3(MSH2):c.212-2_366+1del
|
rs2103974901
|
|
NM_000251.3(MSH2):c.212-478T>G
|
rs587779138
|
|
NM_000251.3(MSH2):c.2127del (p.Ala710fs)
|
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.213_366+1del
|
rs1553350052
|
|
NM_000251.3(MSH2):c.2141dup (p.Gly715fs)
|
rs63750545
|
|
NM_000251.3(MSH2):c.2145del (p.Asp716fs)
|
rs1553369164
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
NM_000251.3(MSH2):c.2150_2153del (p.Ser717fs)
|
rs878853809
|
|
NM_000251.3(MSH2):c.2150del (p.Ser717fs)
|
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2156dup (p.Leu719fs)
|
rs1667313093
|
|
NM_000251.3(MSH2):c.2160_2163del (p.Gly721fs)
|
rs63750722
|
|
NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)
|
rs1060502032
|
|
NM_000251.3(MSH2):c.2163dup (p.Val722fs)
|
|
|
NM_000251.3(MSH2):c.2166_2188dup (p.Leu730fs)
|
|
|
NM_000251.3(MSH2):c.2167dup (p.Ser723fs)
|
rs587779140
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
NM_000251.3(MSH2):c.2173_2174insGGAGT (p.Phe725fs)
|
|
|
NM_000251.3(MSH2):c.2179del (p.Ala727fs)
|
rs1573570621
|
|
NM_000251.3(MSH2):c.217A>T (p.Lys73Ter)
|
rs770110491
|
|
NM_000251.3(MSH2):c.217_227del (p.Lys73fs)
|
rs1114167863
|
|
NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)
|
rs63749802
|
|
NM_000251.3(MSH2):c.2194_2209dup (p.Arg737fs)
|
|
|
NM_000251.3(MSH2):c.2196del (p.Ala733fs)
|
|
|
NM_000251.3(MSH2):c.21dup (p.Thr8fs)
|
rs1553348668
|
|
NM_000251.3(MSH2):c.2204del (p.Ile735fs)
|
rs63750572
|
|
NM_000251.3(MSH2):c.2210+116_2562del
|
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-2A>T
|
rs267608001
|
|
NM_000251.3(MSH2):c.221del (p.Asn74fs)
|
|
|
NM_000251.3(MSH2):c.221dup (p.Asn74fs)
|
|
|
NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs)
|
rs1573573619
|
|
NM_000251.3(MSH2):c.2222_2223del (p.Lys741fs)
|
rs1667386244
|
|
NM_000251.3(MSH2):c.2222_2225del (p.Lys741fs)
|
|
|
NM_000251.3(MSH2):c.2227del (p.Ser743fs)
|
rs2104399472
|
|
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228_2231del (p.Asp742_Ser743insTer)
|
rs63751156
|
|
NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)
|
rs63750403
|
|
NM_000251.3(MSH2):c.2236dup (p.Ile746fs)
|
rs863225392
|
|
NM_000251.3(MSH2):c.2237_2238insA (p.Ile747fs)
|
rs1553369641
|
|
NM_000251.3(MSH2):c.2237_2240del (p.Ile746fs)
|
|
|
NM_000251.3(MSH2):c.2238del (p.Ile746_Ile747insTer)
|
rs1667387473
|
|
NM_000251.3(MSH2):c.223_224del (p.Leu75fs)
|
rs63750712
|
|
NM_000251.3(MSH2):c.2240_2241del (p.Ile747fs)
|
rs63751036
|
|
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2246_2250del (p.Glu749fs)
|
rs1553369665
|
|
NM_000251.3(MSH2):c.224dup (p.Gln76fs)
|
|
|
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)
|
|
|
NM_000251.3(MSH2):c.2255_2256insCC (p.Arg752fs)
|
rs2104400756
|
|
NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)
|
|
|
NM_000251.3(MSH2):c.2261del (p.Thr754fs)
|
rs267608009
|
|
NM_000251.3(MSH2):c.2263_2269del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.2263del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)
|
rs63750042
|
|
NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)
|
|
|
NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)
|
rs56076152
|
|
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)
|
rs63749854
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2283del (p.Gly761_Leu762insTer)
|
rs786204050
|
|
NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)
|
|
|
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)
|
rs1318630651
|
|
NM_000251.3(MSH2):c.2290del (p.Trp764fs)
|
rs63749913
|
|
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)
|
rs587779143
|
|
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2293del (p.Ala765fs)
|
|
|
NM_000251.3(MSH2):c.2294del (p.Ala765fs)
|
rs63750346
|
|
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)
|
rs863225393
|
|
NM_000251.3(MSH2):c.2295del (p.Ile766fs)
|
rs63751143
|
|
NM_000251.3(MSH2):c.2297del (p.Ile766fs)
|
rs863225394
|
|
NM_000251.3(MSH2):c.2298_2299dup (p.Ser767fs)
|
|
|
NM_000251.3(MSH2):c.2299del (p.Ser767fs)
|
rs1573574024
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2305del (p.Tyr769fs)
|
rs63750896
|
|
NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)
|
|
|
NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)
|
rs1573574086
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
NM_000251.3(MSH2):c.2322del (p.Ile774fs)
|
|
|
NM_000251.3(MSH2):c.2325dup (p.Ala776fs)
|
|
|
NM_000251.3(MSH2):c.232_233del (p.Val78fs)
|
|
|
NM_000251.3(MSH2):c.2332del (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2332dup (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2333_2334delinsT (p.Cys778fs)
|
rs1114167872
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
|
|
NM_000251.3(MSH2):c.2347del (p.His783fs)
|
rs63750233
|
|
NM_000251.3(MSH2):c.2352del (p.His785fs)
|
rs1667395869
|
|
NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)
|
rs2104405386
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2360_2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361_2364dup (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2361del (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2362_2363delinsGCA (p.Thr788fs)
|
|
|
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)
|
rs63750463
|
|
NM_000251.3(MSH2):c.2363del (p.Thr788fs)
|
rs2104405789
|
|
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2369del (p.Leu790fs)
|
rs1558521949
|
|
NM_000251.3(MSH2):c.2374_2375del (p.Asn792fs)
|
|
|
NM_000251.3(MSH2):c.2375_2378del (p.Asn792fs)
|
rs2104406331
|
|
NM_000251.3(MSH2):c.2375del (p.Asn792fs)
|
|
|
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)
|
rs730881769
|
|
NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs)
|
rs1114167832
|
|
NM_000251.3(MSH2):c.2382_2403del (p.Ile794fs)
|
|
|
NM_000251.3(MSH2):c.2382del (p.Pro795fs)
|
rs1573574436
|
|
NM_000251.3(MSH2):c.2384del (p.Pro795fs)
|
|
|
NM_000251.3(MSH2):c.2386_2396del (p.Thr796fs)
|
rs2104406996
|
|
NM_000251.3(MSH2):c.2388del (p.Val797fs)
|
rs63749983
|
|
NM_000251.3(MSH2):c.2389_2390del (p.Thr796_Val797insTer)
|
rs1667398945
|
|
NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)
|
rs1114167826
|
|
NM_000251.3(MSH2):c.2396dup (p.Asn799fs)
|
|
|
NM_000251.3(MSH2):c.2397_2400del (p.Leu800fs)
|
|
|
NM_000251.3(MSH2):c.239_240dup (p.Ser81fs)
|
|
|
NM_000251.3(MSH2):c.239_243delinsAGATTTTGAATTTGA (p.Leu80fs)
|
|
|
NM_000251.3(MSH2):c.2408_2409del (p.Thr803fs)
|
rs63750060
|
|
NM_000251.3(MSH2):c.2413dup (p.Leu805fs)
|
rs1114167837
|
|
NM_000251.3(MSH2):c.2416dup (p.Thr806fs)
|
|
|
NM_000251.3(MSH2):c.2418dup (p.Thr807fs)
|
rs587779144
|
|
NM_000251.3(MSH2):c.2419dup (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.241_262del (p.Ser81fs)
|
rs1672551053
|
|
NM_000251.3(MSH2):c.2420del (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.2421_2422delinsCT (p.Glu808Ter)
|
rs1553369812
|
|
NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)
|
rs34986638
|
|
NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs)
|
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2427dup (p.Thr810fs)
|
rs63751079
|
|
NM_000251.3(MSH2):c.2430del (p.Thr810_Leu811insTer)
|
|
|
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)
|
rs63751018
|
|
NM_000251.3(MSH2):c.2434dup (p.Thr812fs)
|
|
|
NM_000251.3(MSH2):c.2437_2438dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2437del (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2437dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)
|
rs1573436369
|
|
NM_000251.3(MSH2):c.2444del (p.Tyr815fs)
|
rs2104409719
|
|
NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)
|
rs1667403360
|
|
NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)
|
rs63749917
|
|
NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)
|
rs587779145
|
|
NM_000251.3(MSH2):c.2450_2451insC (p.Lys818fs)
|
|
|
NM_000251.3(MSH2):c.2458+976A>G
|
rs2104420229
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-954A>G
|
rs2104421991
|
|
NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)
|
|
|
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)
|
rs1114167828
|
|
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)
|
rs63749846
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)
|
rs1553370310
|
|
NM_000251.3(MSH2):c.2474del (p.Ser825fs)
|
rs1573578423
|
|
NM_000251.3(MSH2):c.247del (p.Lys82_Met83insTer)
|
|
|
NM_000251.3(MSH2):c.2481del (p.Ile828fs)
|
rs1573578439
|
|
NM_000251.3(MSH2):c.2485_2498dup (p.Ala834fs)
|
rs587779146
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2487_2493del (p.His829fs)
|
|
|
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)
|
rs863225396
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2504_2505del (p.Asn835fs)
|
|
|
NM_000251.3(MSH2):c.2507del (p.Phe836fs)
|
rs63750008
|
|
NM_000251.3(MSH2):c.2513dup (p.His839fs)
|
|
|
NM_000251.3(MSH2):c.251del (p.Asn84fs)
|
rs786202037
|
|
NM_000251.3(MSH2):c.2520_2521del (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)
|
rs587779147
|
|
NM_000251.3(MSH2):c.2523dup (p.Glu842fs)
|
rs1553370366
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2525_2526dup (p.Cys843fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2529_2530del (p.Cys843_Ala844insTer)
|
rs63749975
|
|
NM_000251.3(MSH2):c.2532_2533delinsCT (p.Lys845Ter)
|
rs2104437748
|
|
NM_000251.3(MSH2):c.2532dup (p.Lys845Ter)
|
rs1553370371
|
|
NM_000251.3(MSH2):c.2533A>T (p.Lys845Ter)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)
|
rs63750857
|
|
NM_000251.3(MSH2):c.2545del (p.Leu849fs)
|
rs587779149
|
|
NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)
|
|
|
NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000251.3(MSH2):c.2557G>T (p.Glu853Ter)
|
rs1553370397
|
|
NM_000251.3(MSH2):c.2557_2560dup (p.Phe854Ter)
|
|
|
NM_000251.3(MSH2):c.255_256del (p.Phe85fs)
|
rs267607921
|
|
NM_000251.3(MSH2):c.255dup (p.Glu86Ter)
|
rs63751158
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.256G>T (p.Glu86Ter)
|
|
|
NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2577del (p.Glu859fs)
|
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.2579dup (p.Gln861fs)
|
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2585dup (p.Tyr863fs)
|
rs1553370431
|
|
NM_000251.3(MSH2):c.2588_2589del (p.Gly862_Tyr863insTer)
|
|
|
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)
|
rs1553370435
|
|
NM_000251.3(MSH2):c.2590_2594del (p.Asp864fs)
|
rs2104439954
|
|
NM_000251.3(MSH2):c.2593_2597del (p.Ile865fs)
|
rs587779151
|
|
NM_000251.3(MSH2):c.2593dup (p.Ile865fs)
|
rs1553370443
|
|
NM_000251.3(MSH2):c.2595dup (p.Met866fs)
|
|
|
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
|
|
|
NM_000251.3(MSH2):c.2601dup (p.Pro868fs)
|
|
|
NM_000251.3(MSH2):c.2613_2614delinsAT (p.Lys872Ter)
|
|
|
NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)
|
rs587779152
|
|
NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)
|
rs1573579206
|
|
NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)
|
rs1667504677
|
|
NM_000251.3(MSH2):c.2629del (p.Arg877fs)
|
rs886041613
|
|
NM_000251.3(MSH2):c.2632G>T (p.Glu878Ter)
|
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+2T>A
|
|
|
NM_000251.3(MSH2):c.2634+2T>C
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634+2T>G
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-1G>A
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)
|
rs63751469
|
|
NM_000251.3(MSH2):c.263_264del (p.Phe88fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2640_2641dup (p.Glu881fs)
|
rs1667576996
|
|
NM_000251.3(MSH2):c.2640_2656del (p.Glu881fs)
|
rs1064792951
|
|
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter)
|
|
|
NM_000251.3(MSH2):c.2641del (p.Glu881fs)
|
rs2104459356
|
|
NM_000251.3(MSH2):c.2645_2654dup (p.Glu886fs)
|
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.264dup (p.Val89fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.2679_2704delinsTCACAATAAAGTT (p.Gln893fs)
|
|
|
NM_000251.3(MSH2):c.267_268insCA (p.Lys90fs)
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)
|
rs1553350126
|
|
NM_000251.3(MSH2):c.272_276dup (p.Leu93fs)
|
|
|
NM_000251.3(MSH2):c.2771dup (p.Asn924fs)
|
|
|
NM_000251.3(MSH2):c.278_279del (p.Leu93fs)
|
rs63749872
|
|
NM_000251.3(MSH2):c.280_281insG (p.Leu94fs)
|
|
|
NM_000251.3(MSH2):c.283dup (p.Val95fs)
|
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)
|
rs63751099
|
|
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)
|
rs763872353
|
|
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
|
|
|
NM_000251.3(MSH2):c.294_295del (p.Tyr98_Arg99delinsTer)
|
rs1553350167
|
|
NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)
|
|
|
NM_000251.3(MSH2):c.298del (p.Val100fs)
|
rs1672557694
|
|
NM_000251.3(MSH2):c.29dup (p.Leu11fs)
|
rs63750589
|
|
NM_000251.3(MSH2):c.2T>A (p.Met1Lys)
|
|
|
NM_000251.3(MSH2):c.2T>C (p.Met1Thr)
|
rs876658825
|
|
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)
|
rs63750318
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.301del (p.Glu101fs)
|
|
|
NM_000251.3(MSH2):c.308del (p.Tyr103fs)
|
|
|
NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)
|
|
|
NM_000251.3(MSH2):c.319delinsAATAAGGCATC (p.Ala107fs)
|
|
|
NM_000251.3(MSH2):c.321del (p.Gly108fs)
|
rs1573436948
|
|
NM_000251.3(MSH2):c.324_325insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATAGAGCTGGA (p.Asn109fs)
|
|
|
NM_000251.3(MSH2):c.329del (p.Lys110fs)
|
|
|
NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)
|
|
|
NM_000251.3(MSH2):c.331del (p.Ala111fs)
|
|
|
NM_000251.3(MSH2):c.332dup (p.Ser112fs)
|
|
|
NM_000251.3(MSH2):c.337A>T (p.Lys113Ter)
|
rs1573437064
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
NM_000251.3(MSH2):c.344del (p.Asn115fs)
|
rs63751195
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)
|
rs917968387
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)
|
rs786202083
|
|
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)
|
rs1558457486
|
|
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)
|
rs879254025
|
|
NM_000251.3(MSH2):c.352dup (p.Tyr118fs)
|
rs587779159
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
|
rs1573437173
|
|
NM_000251.3(MSH2):c.356_357insAT (p.Ala120fs)
|
|
|
NM_000251.3(MSH2):c.362del (p.Tyr121fs)
|
rs1114167831
|
|
NM_000251.3(MSH2):c.363T>A (p.Tyr121Ter)
|
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.363_366dup (p.Ala123Ter)
|
|
|
NM_000251.3(MSH2):c.364A>T (p.Lys122Ter)
|
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+2T>C
|
rs1558457533
|
|
NM_000251.3(MSH2):c.367-2_645+1del
|
rs2104016560
|
|
NM_000251.3(MSH2):c.367-2_645+432del
|
rs2104016448
|
|
NM_000251.3(MSH2):c.367-2_645+742del
|
|
|
NM_000251.3(MSH2):c.367-371_646-513del
|
|
|
NM_000251.3(MSH2):c.367-452_646-722del
|
|
|
NM_000251.3(MSH2):c.367-466_645+658del
|
|
|
NM_000251.3(MSH2):c.367-525_493del
|
rs1553350466
|
|
NM_000251.3(MSH2):c.367-681_646-956del
|
|
|
NM_000251.3(MSH2):c.368del (p.Ala123fs)
|
rs63750210
|
|
NM_000251.3(MSH2):c.377del (p.Gly126fs)
|
rs2104017390
|
|
NM_000251.3(MSH2):c.380_381del (p.Asn127fs)
|
rs63751227
|
|
NM_000251.3(MSH2):c.380del (p.Asn127fs)
|
|
|
NM_000251.3(MSH2):c.385_388del (p.Gln130fs)
|
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.394_395insTT (p.Glu132fs)
|
|
|
NM_000251.3(MSH2):c.399del (p.Asp133fs)
|
rs63751290
|
|
NM_000251.3(MSH2):c.408del (p.Phe136fs)
|
rs63750408
|
|
NM_000251.3(MSH2):c.413dup (p.Asn138fs)
|
|
|
NM_000251.3(MSH2):c.416del (p.Asn139fs)
|
rs63750401
|
|
NM_000251.3(MSH2):c.420dup (p.Met141fs)
|
rs1114167810
|
|
NM_000251.3(MSH2):c.421_422del (p.Met141fs)
|
rs1553350680
|
|
NM_000251.3(MSH2):c.422_425dup (p.Ala143fs)
|
|
|
NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.439_440dup (p.Val148fs)
|
rs1558459096
|
|
NM_000251.3(MSH2):c.43del (p.Ala15fs)
|
rs1672233572
|
|
NM_000251.3(MSH2):c.441del (p.Val148fs)
|
|
|
NM_000251.3(MSH2):c.443del (p.Val148fs)
|
rs1553350721
|
|
NM_000251.3(MSH2):c.445_448del (p.Gly149fs)
|
|
|
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
|
|
|
NM_000251.3(MSH2):c.448_452del (p.Val150fs)
|
|
|
NM_000251.3(MSH2):c.450del (p.Met152fs)
|
|
|
NM_000251.3(MSH2):c.454del (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.454dup (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.463del (p.Val155fs)
|
rs1672664863
|
|
NM_000251.3(MSH2):c.465_466delinsA (p.Asp156fs)
|
rs1114167884
|
|
NM_000251.3(MSH2):c.466del (p.Asp156fs)
|
rs1573440880
|
|
NM_000251.3(MSH2):c.470del (p.Gly157fs)
|
|
|
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)
|
rs63751226
|
|
NM_000251.3(MSH2):c.475del (p.Arg159fs)
|
rs1553350758
|
|
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)
|
rs63751426
|
|
NM_000251.3(MSH2):c.478_479del (p.Gln160fs)
|
rs2104025532
|
|
NM_000251.3(MSH2):c.482T>A (p.Val161Asp)
|
rs63750126
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.486_487del (p.Val163fs)
|
|
|
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)
|
rs63750214
|
|
NM_000251.3(MSH2):c.488T>G (p.Val163Gly)
|
rs63750214
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)
|
rs786204082
|
|
NM_000251.3(MSH2):c.491delinsAT (p.Gly164fs)
|
|
|
NM_000251.3(MSH2):c.492_493del (p.Tyr165fs)
|
rs1672667969
|
|
NM_000251.3(MSH2):c.493_499del (p.Tyr165fs)
|
|
|
NM_000251.3(MSH2):c.495T>A (p.Tyr165Ter)
|
|
|
NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)
|
rs63749949
|
|
NM_000251.3(MSH2):c.497dup (p.Asp167fs)
|
|
|
NM_000251.3(MSH2):c.506_509del (p.Ile169fs)
|
rs63751013
|
|
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)
|
rs63750843
|
|
NM_000251.3(MSH2):c.508_509insCTCC (p.Gln170fs)
|
rs1672669489
|
|
NM_000251.3(MSH2):c.510dup (p.Arg171fs)
|
rs1553350787
|
|
NM_000251.3(MSH2):c.511_583dup (p.Gly195delinsGluGluThrArgThrValTer)
|
rs1553350789
|
|
NM_000251.3(MSH2):c.513del (p.Lys172fs)
|
rs63750933
|
|
NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)
|
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)
|
rs63750070
|
|
NM_000251.3(MSH2):c.518del (p.Leu173fs)
|
rs63750069
|
|
NM_000251.3(MSH2):c.521dup (p.Leu175fs)
|
|
|
NM_000251.3(MSH2):c.525_532del (p.Cys176fs)
|
rs1114167877
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)
|
rs63750382
|
|
NM_000251.3(MSH2):c.52_67del (p.Gly18fs)
|
|
|
NM_000251.3(MSH2):c.530_531del (p.Glu177fs)
|
rs63750551
|
|
NM_000251.3(MSH2):c.530_539del (p.Glu177fs)
|
|
|
NM_000251.3(MSH2):c.535_536del (p.Phe178_Pro179insTer)
|
rs1114167812
|
|
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)
|
rs63750037
|
|
NM_000251.3(MSH2):c.551del (p.Phe184fs)
|
rs267607928
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)
|
rs63751444
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.563del (p.Glu188fs)
|
rs1114167885
|
|
NM_000251.3(MSH2):c.565_566dup (p.Leu191fs)
|
rs1114167855
|
|
NM_000251.3(MSH2):c.567del (p.Leu190fs)
|
rs2104033787
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.568_569delinsG (p.Leu190fs)
|
|
|
NM_000251.3(MSH2):c.571del (p.Leu191fs)
|
|
|
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)
|
rs63751326
|
|
NM_000251.3(MSH2):c.587del (p.Pro196fs)
|
rs63750682
|
|
NM_000251.3(MSH2):c.590del (p.Lys197fs)
|
rs2104035729
|
|
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)
|
rs587779166
|
|
NM_000251.3(MSH2):c.592dup (p.Glu198fs)
|
rs63750786
|
|
NM_000251.3(MSH2):c.594_596dup (p.Cys199Ter)
|
|
|
NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)
|
rs63751110
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
NM_000251.3(MSH2):c.602T>G (p.Leu201Ter)
|
|
|
NM_000251.3(MSH2):c.607G>T (p.Gly203Ter)
|
|
|
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)
|
rs63750574
|
|
NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)
|
rs63749984
|
|
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs)
|
rs1553350946
|
|
NM_000251.3(MSH2):c.615_616del (p.Glu205fs)
|
|
|
NM_000251.3(MSH2):c.616_617del (p.Thr206fs)
|
|
|
NM_000251.3(MSH2):c.616dup (p.Thr206fs)
|
rs63750995
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.633del (p.Lys212fs)
|
rs1114167821
|
|
NM_000251.3(MSH2):c.636dup (p.Leu213fs)
|
rs1573442039
|
|
NM_000251.3(MSH2):c.638_639del (p.Leu213fs)
|
rs63751622
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.643_644del (p.Gln215fs)
|
rs1573442100
|
|
NM_000251.3(MSH2):c.643_646del (p.Arg214_Gln215insTer)
|
rs63751695
|
|
NM_000251.3(MSH2):c.643del (p.Gln215fs)
|
rs1558459882
|
|
NM_000251.3(MSH2):c.644del (p.Gln215fs)
|
rs1558459885
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
NM_000251.3(MSH2):c.645+2T>G
|
rs876658996
|
|
NM_000251.3(MSH2):c.646-1_648del
|
rs1553351549
|
|
NM_000251.3(MSH2):c.646-1_792+486del
|
rs2104097954
|
|
NM_000251.3(MSH2):c.646-3T>G
|
rs267607930
|
|
NM_000251.3(MSH2):c.647dup (p.Ile217fs)
|
|
|
NM_000251.3(MSH2):c.650_654del (p.Ile217fs)
|
rs63751602
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.656_664delinsATAGATAATTTCT (p.Arg219_Ile222delinsAsnArgTer)
|
|
|
NM_000251.3(MSH2):c.657_658del (p.Gly220fs)
|
|
|
NM_000251.3(MSH2):c.674del (p.Thr225fs)
|
|
|
NM_000251.3(MSH2):c.675_679delinsTAAT (p.Glu226fs)
|
rs587779172
|
|
NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)
|
|
|
NM_000251.3(MSH2):c.679del (p.Arg227fs)
|
rs1573446614
|
|
NM_000251.3(MSH2):c.680_681del (p.Arg227fs)
|
rs1558461683
|
|
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
|
rs587782537
|
|
NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)
|
rs587779173
|
|
NM_000251.3(MSH2):c.686_687del (p.Lys229fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)
|
rs63750364
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.68_69del (p.Phe23fs)
|
|
|
NM_000251.3(MSH2):c.691del (p.Asp231fs)
|
rs587779174
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.697dup (p.Ser233fs)
|
|
|
NM_000251.3(MSH2):c.699del (p.Thr234fs)
|
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.705del (p.Asp236fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.711_714del (p.Tyr238fs)
|
rs63751288
|
|
NM_000251.3(MSH2):c.712del (p.Tyr238fs)
|
|
|
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)
|
rs369670665
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.715dup (p.Gln239fs)
|
|
|
NM_000251.3(MSH2):c.717_721delinsTTA (p.Gln239fs)
|
rs63750690
|
|
NM_000251.3(MSH2):c.718del (p.Asp240fs)
|
rs2104104410
|
|
NM_000251.3(MSH2):c.71dup (p.Met26fs)
|
rs587779175
|
|
NM_000251.3(MSH2):c.725dup (p.Asn242fs)
|
rs587779176
|
|
NM_000251.3(MSH2):c.728_729del (p.Arg243fs)
|
|
|
NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)
|
|
|
NM_000251.3(MSH2):c.731_734dup (p.Leu245fs)
|
|
|
NM_000251.3(MSH2):c.731del (p.Leu244fs)
|
rs876660655
|
|
NM_000251.3(MSH2):c.735dup (p.Lys246fs)
|
rs63750107
|
|
NM_000251.3(MSH2):c.736A>T (p.Lys246Ter)
|
rs63750881
|
|
NM_000251.3(MSH2):c.738del (p.Gly247fs)
|
rs2104106456
|
|
NM_000251.3(MSH2):c.73_74insC (p.Gly25fs)
|
rs587779177
|
|
NM_000251.3(MSH2):c.746_747del (p.Lys249fs)
|
|
|
NM_000251.3(MSH2):c.746del (p.Lys249fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.746dup (p.Glu251fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.748_751del (p.Gly250fs)
|
|
|
NM_000251.3(MSH2):c.74del (p.Gly25fs)
|
|
|
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)
|
rs63750347
|
|
NM_000251.3(MSH2):c.755_758dup (p.Met253fs)
|
rs2104108180
|
|
NM_000251.3(MSH2):c.758dup (p.Met253fs)
|
|
|
NM_000251.3(MSH2):c.759_762del (p.Met253fs)
|
rs267607931
|
|
NM_000251.3(MSH2):c.759del (p.Met253fs)
|
rs63751160
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
NM_000251.3(MSH2):c.761del (p.Asn254fs)
|
rs587779179
|
|
NM_000251.3(MSH2):c.762_763del (p.Asn254fs)
|
|
|
NM_000251.3(MSH2):c.762dup (p.Ser255Ter)
|
|
|
NM_000251.3(MSH2):c.763_766delinsTT (p.Ser255fs)
|
rs63750329
|
|
NM_000251.3(MSH2):c.767_768dup (p.Val257fs)
|
rs587779181
|
|
NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)
|
|
|
NM_000251.3(MSH2):c.776del (p.Pro259fs)
|
|
|
NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)
|
|
|
NM_000251.3(MSH2):c.782_783insA (p.Met261fs)
|
rs786204144
|
|
NM_000251.3(MSH2):c.784G>T (p.Glu262Ter)
|
|
|
NM_000251.3(MSH2):c.784dup (p.Glu262fs)
|
rs2104111087
|
|
NM_000251.3(MSH2):c.788_789del (p.Asn263fs)
|
rs63751614
|
|
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)
|
rs878853824
|
|
NM_000251.3(MSH2):c.790dup (p.Gln264fs)
|
rs1114167814
|
|
NM_000251.3(MSH2):c.792+10_943-448del
|
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>T
|
|
|
NM_000251.3(MSH2):c.792+1_792+2inv
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
NM_000251.3(MSH2):c.792+2T>C
|
rs587782408
|
|
NM_000251.3(MSH2):c.792+2T>G
|
rs587782408
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
NM_000251.3(MSH2):c.793-2A>C
|
rs267607933
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
NM_000251.3(MSH2):c.793-6_942+450del
|
rs1553352366
|
|
NM_000251.3(MSH2):c.795del (p.Ala266fs)
|
rs63749902
|
|
NM_000251.3(MSH2):c.7del (p.Val3fs)
|
|
|
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)
|
rs563410947
|
|
NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)
|
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.810_811del (p.Ser271fs)
|
rs63751133
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.812_813del (p.Ser271fs)
|
rs1573451108
|
|
NM_000251.3(MSH2):c.817del (p.Ala272_Val273insTer)
|
rs1672945766
|
|
NM_000251.3(MSH2):c.819_821delinsTG (p.Ile274fs)
|
rs864622261
|
|
NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)
|
rs63751246
|
|
NM_000251.3(MSH2):c.82del (p.Glu28fs)
|
rs587779188
|
|
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830del (p.Phe276_Leu277insTer)
|
rs2104168299
|
|
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)
|
rs1558464008
|
|
NM_000251.3(MSH2):c.835_842dup (p.Asp282fs)
|
|
|
NM_000251.3(MSH2):c.836del (p.Leu279fs)
|
rs63751159
|
|
NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)
|
|
|
NM_000251.3(MSH2):c.839del (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.839dup (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
|
|
|
NM_000251.3(MSH2):c.842C>A (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
NM_000251.3(MSH2):c.846del (p.Asp282fs)
|
|
|
NM_000251.3(MSH2):c.850del (p.Ser284fs)
|
|
|
NM_000251.3(MSH2):c.850dup (p.Ser284fs)
|
rs1114167860
|
|
NM_000251.3(MSH2):c.854del (p.Asn285fs)
|
rs63750701
|
|
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)
|
rs63750276
|
|
NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)
|
rs1060502001
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.863del (p.Gln288fs)
|
rs587779189
|
|
NM_000251.3(MSH2):c.867del (p.Phe289fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
NM_000251.3(MSH2):c.871_872dup (p.Leu291_Thr292insTer)
|
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)
|
rs587779191
|
|
NM_000251.3(MSH2):c.876dup (p.Thr293fs)
|
rs1553352505
|
|
NM_000251.3(MSH2):c.87_90del (p.Thr31fs)
|
rs1060502000
|
|
NM_000251.3(MSH2):c.880_881insA (p.Phe294fs)
|
|
|
NM_000251.3(MSH2):c.880_887dup (p.Ser297fs)
|
rs2104174891
|
|
NM_000251.3(MSH2):c.881_882del (p.Thr293_Phe294insTer)
|
rs63751115
|
|
NM_000251.3(MSH2):c.882_883insSVAelement
|
rs1672953209
|
|
NM_000251.3(MSH2):c.882del (p.Phe294fs)
|
rs63751115
|
|
NM_000251.3(MSH2):c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe296_Ser297delinsTyrPhePheSerIleTer)
|
rs1573451662
|
|
NM_000251.3(MSH2):c.888del (p.Phe296fs)
|
rs587779192
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)
|
|
|
NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)
|
rs879254104
|
|
NM_000251.3(MSH2):c.898_899dup (p.Met300fs)
|
rs63750885
|
|
NM_000251.3(MSH2):c.89del (p.Pro30fs)
|
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.912dup (p.Ala305fs)
|
rs863224833
|
|
NM_000251.3(MSH2):c.913dup (p.Ala305fs)
|
rs786203604
|
|
NM_000251.3(MSH2):c.914_923del (p.Ala305fs)
|
rs1672955848
|
|
NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)
|
rs63750046
|
|
NM_000251.3(MSH2):c.917_918del (p.Ala306fs)
|
|
|
NM_000251.3(MSH2):c.91_104del (p.Thr31fs)
|
rs2103872773
|
|
NM_000251.3(MSH2):c.920_923del (p.Val307fs)
|
rs2104179024
|
|
NM_000251.3(MSH2):c.921dup (p.Arg308fs)
|
rs2104179388
|
|
NM_000251.3(MSH2):c.922dup (p.Arg308fs)
|
|
|
NM_000251.3(MSH2):c.924_925del (p.Arg308fs)
|
|
|
NM_000251.3(MSH2):c.928dup (p.Leu310fs)
|
|
|
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)
|
rs63750640
|
|
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)
|
rs63750640
|
|
NM_000251.3(MSH2):c.932_933insGA (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
NM_000251.3(MSH2):c.932dup (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.934_938dup (p.Gln314fs)
|
|
|
NM_000251.3(MSH2):c.934del (p.Leu312fs)
|
rs267607937
|
|
NM_000251.3(MSH2):c.938_939dup (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.939del (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.93dup (p.Thr32fs)
|
|
|
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)
|
rs1114167845
|
|
NM_000251.3(MSH2):c.940_942+2del
|
|
|
NM_000251.3(MSH2):c.942+1G>A
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+1G>C
|
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+2T>C
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2T>G
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
NM_000251.3(MSH2):c.943-1G>A
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-2A>T
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-2_1076+1del
|
rs2104242036
|
|
NM_000251.3(MSH2):c.944del (p.Gly315Valfs)
|
rs1673064965
|
|
NM_000251.3(MSH2):c.946del (p.Ser316fs)
|
|
|
NM_000251.3(MSH2):c.948del (p.Val317fs)
|
|
|
NM_000251.3(MSH2):c.948dup (p.Val317fs)
|
|
|
NM_000251.3(MSH2):c.94_103del (p.Thr32fs)
|
rs63750728
|
|
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
|
|
|
NM_000251.3(MSH2):c.955_959del (p.Asp319fs)
|
rs1673066717
|
|
NM_000251.3(MSH2):c.958_959del (p.Thr320fs)
|
rs1673067879
|
|
NM_000251.3(MSH2):c.958dup (p.Thr320fs)
|
rs63749852
|
|
NM_000251.3(MSH2):c.959_962del (p.Thr320fs)
|
rs1114167825
|
|
NM_000251.3(MSH2):c.961_1006del (p.Thr321fs)
|
rs1553353114
|
|
NM_000251.3(MSH2):c.965dup (p.Ser323fs)
|
|
|
NM_000251.3(MSH2):c.968_971dup (p.Gln324fs)
|
rs1673070318
|
|
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)
|
rs63750502
|
|
NM_000251.3(MSH2):c.970_971del (p.Gln324fs)
|
rs63751044
|
|
NM_000251.3(MSH2):c.970dup (p.Gln324fs)
|
|
|
NM_000251.3(MSH2):c.973dup (p.Ser325fs)
|
rs63749945
|
|
NM_000251.3(MSH2):c.979del (p.Ala327fs)
|
rs1558466434
|
|
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)
|
rs63750630
|
|
NM_000251.3(MSH2):c.989dup (p.Asn331fs)
|
rs1114167813
|
|
NM_000251.3(MSH2):c.98del (p.Thr33fs)
|
rs1573423412
|
|
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)
|
rs63750468
|
|
NM_000251.3(MSH2):c.997dup (p.Cys333fs)
|
rs2104247156
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
NM_000251.3(MSH2):c.998_999del (p.Lys332_Cys333insTer)
|
rs2104247018
|
|
NM_000251.3(MSH2):c.998_999dup (p.Lys334fs)
|
|
|
NM_000251.3(MSH2):c.998del (p.Cys333fs)
|
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
|
|
|
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del
|
|
|
NM_000251.3:c.(1759+1_1760-1)_(2458+1_2459-1)del
|
|
|
NM_000314.8(PTEN):c.254-2_254-1del
|
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
NM_000314.8(PTEN):c.370dup (p.Cys124fs)
|
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.493-1G>A
|
rs786204862
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)
|
rs1114167667
|
|
NM_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
NM_000346.4(SOX9):c.710del (p.Pro237fs)
|
rs1567911132
|
|
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)
|
rs137853079
|
|
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
|
|
|
NM_000455.5(STK11):c.374+2T>A
|
|
|
NM_000455.5(STK11):c.650del (p.Pro217fs)
|
rs397518442
|
|
NM_000455.5(STK11):c.716G>A (p.Trp239Ter)
|
rs730881975
|
|
NM_000455.5(STK11):c.936del (p.Lys312fs)
|
rs397518443
|
|
NM_000465.4(BARD1):c.1029del (p.Ser344fs)
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
NM_000465.4(BARD1):c.1568+1G>A
|
rs2106076135
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs)
|
rs1553616361
|
|
NM_000465.4(BARD1):c.1810+1G>T
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
NM_000465.4(BARD1):c.1903+1G>C
|
|
|
NM_000465.4(BARD1):c.1903+1del
|
|
|
NM_000465.4(BARD1):c.1904-2_1904-1del
|
|
|
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)
|
rs587780024
|
|
NM_000465.4(BARD1):c.417_427del (p.Lys139fs)
|
|
|
NM_000465.4(BARD1):c.629del (p.Thr210fs)
|
|
|
NM_000465.4(BARD1):c.735del (p.Gln245fs)
|
|
|
NM_000465.4(BARD1):c.829_833dup (p.Ser279fs)
|
|
|
NM_000465.4(BARD1):c.886dup (p.Glu296fs)
|
|
|
NM_000534.5(PMS1):c.2766del (p.His923fs)
|
rs2057666079
|
|
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_1144+?del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_23+?del
|
|
|
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
|
|
|
NM_000535.5(PMS2):c.1145-1350_*20545del
|
|
|
NM_000535.5(PMS2):c.354-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.538-?_903+?del
|
|
|
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
|
|
|
NM_000535.5(PMS2):c.804-?_2006+?del
|
|
|
NM_000535.5(PMS2):c.904-10_*10del
|
|
|
NM_000535.5(PMS2):c.904-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.904-?_1144+?del
|
|
|
NM_000535.5(PMS2):c.989-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.989-?_1144+?del
|
|
|
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
|
|
|
NM_000535.6(PMS2):c.-87_537+?del
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.6(PMS2):c.164-?_2006+?del
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.6(PMS2):c.2276-?_*160+?del
|
|
|
NM_000535.6(PMS2):c.2276-?_2445+?del
|
|
|
NM_000535.6(PMS2):c.24-?_163+?del
|
|
|
NM_000535.6(PMS2):c.354-?_803+?del
|
|
|
NM_000535.6(PMS2):c.706-?_803+?del
|
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.6(PMS2):c.804-?_903+?del
|
|
|
NM_000535.6(PMS2):c.904-?_988+?del
|
|
|
NM_000535.6:c.(803+1_804-1)_(903+1_904-1)del
|
|
|
NM_000535.7(PMS2):c.1009dup (p.Thr337fs)
|
rs1214597671
|
|
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
|
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1027del (p.Ile343fs)
|
rs1562644987
|
|
NM_000535.7(PMS2):c.1035dup (p.Gln346fs)
|
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
|
|
|
NM_000535.7(PMS2):c.1053del (p.Leu351fs)
|
rs1554298756
|
|
NM_000535.7(PMS2):c.1064T>G (p.Leu355Ter)
|
rs1783532593
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1068del (p.Thr357fs)
|
rs1554298741
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1G>T
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1144+2T>G
|
|
|
NM_000535.7(PMS2):c.1145-1_2006+2del
|
rs2128719778
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1154del (p.Ile385fs)
|
rs2128737282
|
|
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
|
|
|
NM_000535.7(PMS2):c.1159del (p.Met387fs)
|
rs2128737155
|
|
NM_000535.7(PMS2):c.1160dup (p.Met387fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)
|
rs1243063129
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1185del (p.Met396fs)
|
rs786204104
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1210_1211del (p.Pro404fs)
|
rs2128736116
|
|
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
|
|
|
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
|
|
|
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)
|
rs3209663
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
|
|
|
NM_000535.7(PMS2):c.122del (p.Glu41fs)
|
|
|
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
|
|
|
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
|
|
|
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter)
|
rs1562635799
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter)
|
rs587782175
|
|
NM_000535.7(PMS2):c.1264del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1273_1274insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGCCTTTT (p.Ser425delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
|
|
|
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
|
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.12dup (p.Glu5Ter)
|
rs1282857832
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.130G>T (p.Glu44Ter)
|
rs786202669
|
|
NM_000535.7(PMS2):c.1313dup (p.Thr439fs)
|
rs1562634737
|
|
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)
|
rs876661256
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
|
|
|
NM_000535.7(PMS2):c.1356del (p.Met453fs)
|
rs1783123619
|
|
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
|
rs1583320992
|
|
NM_000535.7(PMS2):c.1375del (p.Ser459fs)
|
rs1783113930
|
|
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)
|
rs1562633172
|
|
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
|
|
|
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs)
|
rs1554297764
|
|
NM_000535.7(PMS2):c.142del (p.Asp48fs)
|
rs1064794173
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter)
|
rs587782602
|
|
NM_000535.7(PMS2):c.1485dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1486dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)
|
rs876660459
|
|
NM_000535.7(PMS2):c.149del (p.Gly50fs)
|
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1515del (p.Phe506fs)
|
rs1583319050
|
|
NM_000535.7(PMS2):c.1532del (p.Thr511fs)
|
rs1554297636
|
|
NM_000535.7(PMS2):c.1537del (p.Ser513fs)
|
|
|
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
|
|
|
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
|
rs1583318494
|
|
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1559del (p.Ala520fs)
|
rs1554297564
|
|
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
|
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
|
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1579del (p.Arg527fs)
|
rs1554297523
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1587dup (p.Gln530fs)
|
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1595_1596del (p.His532fs)
|
|
|
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs)
|
rs2128726933
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1672del (p.Thr558fs)
|
rs1562629003
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs)
|
rs1064795345
|
|
NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)
|
|
|
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)
|
rs1554297342
|
|
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
|
|
|
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
|
rs1783004175
|
|
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
|
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
|
|
|
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer)
|
rs1785429855
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1737del (p.Phe579fs)
|
rs1782994894
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs)
|
rs1782992250
|
|
NM_000535.7(PMS2):c.1746del (p.Glu583fs)
|
rs1554297285
|
|
NM_000535.7(PMS2):c.1750del (p.Ile584fs)
|
rs864622600
|
|
NM_000535.7(PMS2):c.1750dup (p.Ile584fs)
|
rs864622600
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.176del (p.Lys59fs)
|
rs1785429311
|
|
NM_000535.7(PMS2):c.176dup (p.Asp60fs)
|
|
|
NM_000535.7(PMS2):c.1774C>T (p.Gln592Ter)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
|
|
|
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter)
|
rs1782978316
|
|
NM_000535.7(PMS2):c.1800del (p.Met600fs)
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.180del (p.Tyr61fs)
|
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.1826_1827del (p.Val609fs)
|
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831delinsTT (p.Ile611fs)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1842dup (p.Val615fs)
|
rs1782962828
|
|
NM_000535.7(PMS2):c.1845del (p.Val616fs)
|
|
|
NM_000535.7(PMS2):c.1853del (p.Leu618fs)
|
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1867del (p.Ser623fs)
|
|
|
NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer)
|
rs1554297153
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)
|
|
|
NM_000535.7(PMS2):c.1885del (p.Arg628_Ile629insTer)
|
rs1782949480
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs)
|
rs1562626204
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1897del (p.His633fs)
|
rs1782947222
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)
|
rs1562626011
|
|
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter)
|
rs764342199
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1915del (p.Ser639fs)
|
|
|
NM_000535.7(PMS2):c.1924del (p.Glu642fs)
|
rs2128721171
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
|
|
|
NM_000535.7(PMS2):c.1933del (p.Tyr645fs)
|
|
|
NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)
|
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1959T>A (p.Cys653Ter)
|
rs1554297082
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)
|
rs1172837844
|
|
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)
|
rs778531080
|
|
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)
|
rs1554297061
|
|
NM_000535.7(PMS2):c.198_213del (p.Ile66fs)
|
rs1785420264
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2007dup (p.Lys670Ter)
|
|
|
NM_000535.7(PMS2):c.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)
|
rs1583299686
|
|
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
|
|
|
NM_000535.7(PMS2):c.2039del (p.Gly680fs)
|
|
|
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
|
rs1782465728
|
|
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
|
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2098C>T (p.Gln700Ter)
|
|
|
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2118_2120dup (p.Tyr707Ter)
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs)
|
rs1562614946
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.2148del (p.Val717fs)
|
|
|
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
|
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
|
|
|
NM_000535.7(PMS2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_000535.7(PMS2):c.2174+1G>C
|
rs267608172
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)
|
rs786202202
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.2208del (p.Ala737fs)
|
rs2128683310
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
|
rs1583285552
|
|
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter)
|
rs1583285344
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>T
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.2276-113_2445+1596del
|
|
|
NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
|
|
|
NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer)
|
rs1554293959
|
|
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
|
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.232_235del (p.Glu78fs)
|
rs1583410315
|
|
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
|
|
|
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
|
|
|
NM_000535.7(PMS2):c.2339_2343del (p.Pro780fs)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
|
|
|
NM_000535.7(PMS2):c.2341dup (p.Gln781fs)
|
rs2128674468
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2357_2445+510del
|
rs1562598658
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
|
|
|
NM_000535.7(PMS2):c.2380_2381dup (p.Gly795fs)
|
rs2128673214
|
|
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
|
|
|
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
|
|
|
NM_000535.7(PMS2):c.2399dup (p.Ser801fs)
|
|
|
NM_000535.7(PMS2):c.239_242dup (p.Glu81fs)
|
rs2128829368
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
|
|
|
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)
|
rs587779338
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2450del (p.Met817fs)
|
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.251-1G>C
|
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.2515_2517delinsAGTT (p.His839fs)
|
rs2128657907
|
|
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
|
|
|
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)
|
rs876661203
|
|
NM_000535.7(PMS2):c.2523del (p.Pro840_Trp841insTer)
|
|
|
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.261_265del (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.262dup (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
|
|
|
NM_000535.7(PMS2):c.285delinsAAGATTCAA (p.Phe95fs)
|
|
|
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2_3delinsA (p.Met1fs)
|
|
|
NM_000535.7(PMS2):c.308del (p.Thr103fs)
|
|
|
NM_000535.7(PMS2):c.312del (p.Phe104fs)
|
rs1785372371
|
|
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
|
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.33del (p.Ala12fs)
|
rs1554306605
|
|
NM_000535.7(PMS2):c.345_346del (p.Ala116fs)
|
rs1785363766
|
|
NM_000535.7(PMS2):c.349_350del (p.Leu117fs)
|
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
|
|
|
NM_000535.7(PMS2):c.367dup (p.Ser123fs)
|
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.380dup (p.Ser128fs)
|
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
|
|
|
NM_000535.7(PMS2):c.391del (p.Val131fs)
|
rs2128818786
|
|
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
|
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>C (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>T (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.407del (p.Met136fs)
|
|
|
NM_000535.7(PMS2):c.427del (p.Ile143fs)
|
|
|
NM_000535.7(PMS2):c.42del (p.Ile15fs)
|
rs2128846824
|
|
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)
|
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.451dup (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452_456del (p.Arg151fs)
|
rs2128817368
|
|
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.457A>T (p.Arg153Ter)
|
|
|
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.481C>T (p.Gln161Ter)
|
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
|
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
|
|
NM_000535.7(PMS2):c.512del (p.Lys171fs)
|
|
|
NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
NM_000535.7(PMS2):c.525_534del (p.Asn176fs)
|
rs1785187053
|
|
NM_000535.7(PMS2):c.525del (p.Asn176fs)
|
rs2128815756
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.537+1G>T
|
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.537+2T>C
|
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.538-478_705+456del
|
|
|
NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter)
|
rs1583387894
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.547A>T (p.Lys183Ter)
|
|
|
NM_000535.7(PMS2):c.54del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.550del (p.Met184fs)
|
|
|
NM_000535.7(PMS2):c.564dup (p.His189fs)
|
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
|
|
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)
|
rs761134229
|
|
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
|
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
|
|
|
NM_000535.7(PMS2):c.630del (p.Lys210fs)
|
rs1784806713
|
|
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
|
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.648C>A (p.Cys216Ter)
|
rs762387250
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.663del (p.Ser222fs)
|
rs2128799910
|
|
NM_000535.7(PMS2):c.66_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.673G>T (p.Glu225Ter)
|
rs1562677770
|
|
NM_000535.7(PMS2):c.686_687del (p.Ser229fs)
|
rs746766787
|
|
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.691_694del (p.Phe231fs)
|
rs1784787989
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.710_714del (p.Gln237fs)
|
rs1784546407
|
|
NM_000535.7(PMS2):c.713del (p.Ser238fs)
|
rs2128788650
|
|
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.732del (p.Gln244fs)
|
rs2128788235
|
|
NM_000535.7(PMS2):c.735dup (p.Pro246fs)
|
rs2128788145
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
|
|
|
NM_000535.7(PMS2):c.741_742insGTGTGAAG (p.Ser248delinsValTer)
|
|
|
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter)
|
rs756653193
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.750del (p.Val251fs)
|
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)
|
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
|
|
|
NM_000535.7(PMS2):c.767del (p.Gly256fs)
|
|
|
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
|
|
|
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter)
|
rs730881920
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.781del (p.Asp261fs)
|
|
|
NM_000535.7(PMS2):c.787del (p.Leu263fs)
|
|
|
NM_000535.7(PMS2):c.796_797del (p.Leu266fs)
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
|
|
|
NM_000535.7(PMS2):c.846del (p.Ser283fs)
|
rs1057515571
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.852_855del (p.Arg287fs)
|
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.859dup (p.Arg287fs)
|
rs1554300763
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.870del (p.Phe291fs)
|
rs1784299649
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.902dup (p.Val302fs)
|
rs1784291698
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
|
|
|
NM_000535.7(PMS2):c.92_99del (p.Val31fs)
|
rs2128845440
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.947_948del (p.His316fs)
|
rs878854060
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.954T>A (p.Tyr318Ter)
|
rs2128755485
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.972del (p.Asn324fs)
|
|
|
NM_000535.7(PMS2):c.986C>A (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.987dup (p.Glu330fs)
|
rs2128754982
|
|
NM_000535.7(PMS2):c.989-1G>A
|
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
|
|
|
NM_000535.7:c.804-70_2445+71del
|
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.105G>T (p.Leu35Phe)
|
rs121912661
|
|
NM_000546.6(TP53):c.1101-1G>C
|
|
|
NM_000546.6(TP53):c.298del (p.Gln100fs)
|
rs1567556006
|
|
NM_000546.6(TP53):c.308dup (p.Tyr103Ter)
|
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.431_433del (p.Gln144del)
|
rs2073391946
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del)
|
rs2073329654
|
|
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)
|
rs397516436
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.913A>T (p.Lys305Ter)
|
rs1597360340
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000612.6(IGF2):c.520_521insC (p.Glu174fs)
|
rs1858717597
|
|
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.2788del (p.Thr930fs)
|
rs775277584
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.205-1G>C
|
rs1555605362
|
|
NM_001042492.3(NF1):c.2375T>A (p.Leu792His)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.3424_3425del (p.Arg1142fs)
|
|
|
NM_001042492.3(NF1):c.3669_3687del (p.Ile1223fs)
|
|
|
NM_001042492.3(NF1):c.3871-1G>C
|
|
|
NM_001042492.3(NF1):c.3940dup (p.Trp1314fs)
|
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
NM_001042492.3(NF1):c.496_497del (p.Val166fs)
|
rs1135402788
|
|
NM_001042492.3(NF1):c.6098del (p.Asp2033fs)
|
|
|
NM_001042492.3(NF1):c.6607G>T (p.Glu2203Ter)
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.731-1G>C
|
rs1555608928
|
|
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter)
|
rs2070167232
|
|
NM_001048174.2(MUTYH):c.1021G>T (p.Glu341Ter)
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1129C>T (p.Pro377Ser)
|
rs121908382
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1157A>G (p.Gln386Arg)
|
rs121908383
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)
|
rs932830392
|
|
NM_001048174.2(MUTYH):c.1441A>T (p.Lys481Ter)
|
|
|
NM_001048174.2(MUTYH):c.1495C>T (p.Gln499Ter)
|
|
|
NM_001048174.2(MUTYH):c.1536_1539dup (p.His514fs)
|
|
|
NM_001048174.2(MUTYH):c.1562del (p.Gln521fs)
|
rs1644340673
|
|
NM_001048174.2(MUTYH):c.181_182del (p.Asp61fs)
|
|
|
NM_001048174.2(MUTYH):c.185dup (p.Ala63fs)
|
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
|
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.67C>T (p.Gln23Ter)
|
|
|
NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter)
|
rs1570406302
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
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_001127511.3(APC):c.166-28469_166-27547del
|
rs2149682237
|
|
NM_001128425.2(MUTYH):c.36+1G>C
|
|
|
NM_001128425.2(MUTYH):c.36+1del
|
|
|
NM_001130158.3(MYO1B):c.2775del (p.Lys925fs)
|
rs1697225194
|
|
NM_001300.6(KLF6):c.465C>A (p.Ser155Arg)
|
rs121909144
|
|
NM_001349798.2(FBXW7):c.256del (p.Ser86fs)
|
rs1737970426
|
|
NM_001354621.2(MLH1):c.-139-2804_-139-2801del
|
rs267607799
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
NM_001354629.2(MLH1):c.208-3445_208-3439del
|
rs730881734
|
|
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_001382548.1(TCERG1):c.192del (p.Pro65fs)
|
rs1762720125
|
|
NM_001395463.1(PLA2G2A):c.144_145del (p.Cys48fs)
|
rs587776800
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.3875-2A>C
|
rs2145762711
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile)
|
rs1057517732
|
|
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)
|
rs28937578
|
|
NM_001429.4(EP300):c.832del (p.Thr278fs)
|
rs2058879988
|
|
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)
|
|
|
NM_001903.5(CTNNA1):c.1045del (p.Ser349fs)
|
rs2149786068
|
|
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)
|
|
|
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)
|
rs1426385729
|
|
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)
|
rs1754363697
|
|
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)
|
|
|
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)
|
rs1758714268
|
|
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)
|
rs201498915
|
|
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)
|
|
|
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)
|
|
|
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)
|
|
|
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)
|
rs2149656252
|
|
NM_001903.5(CTNNA1):c.1526_1527insC (p.Asp509_Asp510insTer)
|
rs1762133912
|
|
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)
|
rs2150288001
|
|
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)
|
rs1763609978
|
|
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)
|
|
|
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)
|
|
|
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)
|
|
|
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)
|
|
|
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)
|
|
|
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)
|
rs1764805365
|
|
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)
|
rs1580907792
|
|
NM_001903.5(CTNNA1):c.2043del (p.Ala682fs)
|
rs2150334022
|
|
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)
|
|
|
NM_001903.5(CTNNA1):c.2600del (p.Lys867fs)
|
rs2150359552
|
|
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)
|
rs773235871
|
|
NM_001903.5(CTNNA1):c.297del (p.Lys99fs)
|
rs2149656983
|
|
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)
|
rs1043413100
|
|
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)
|
|
|
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)
|
|
|
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)
|
rs1581105774
|
|
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)
|
|
|
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)
|
|
|
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)
|
|
|
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)
|
rs2149651992
|
|
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)
|
|
|
NM_001903.5(CTNNA1):c.86del (p.Leu29fs)
|
rs745411817
|
|
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)
|
|
|
NM_001903.5(CTNNA1):c.919del (p.Glu307fs)
|
rs1760848495
|
|
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
|
rs1575320216
|
|
NM_001904.4(CTNNB1):c.1081+1G>T
|
rs2078201673
|
|
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.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.735-1G>C
|
rs2125623951
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
NM_002198.3(IRF1):c.22A>T (p.Met8Leu)
|
rs121912469
|
|
NM_002354.2(EPCAM):c.859-1462_*1999del
|
|
|
NM_002354.2(EPCAM):c.859-?_*415del
|
|
|
NM_002354.2(EPCAM):c.904-?_945+?del
|
|
|
NM_002354.3(EPCAM):c.11del (p.Pro4fs)
|
|
|
NM_002354.3(EPCAM):c.133C>T (p.Gln45Ter)
|
rs878854485
|
|
NM_002354.3(EPCAM):c.167del (p.Thr56fs)
|
|
|
NM_002354.3(EPCAM):c.179C>G (p.Ser60Ter)
|
|
|
NM_002354.3(EPCAM):c.1A>G (p.Met1Val)
|
|
|
NM_002354.3(EPCAM):c.315dup (p.Lys106Ter)
|
|
|
NM_002354.3(EPCAM):c.373A>T (p.Arg125Ter)
|
|
|
NM_002354.3(EPCAM):c.37del (p.Ala14fs)
|
|
|
NM_002354.3(EPCAM):c.3G>C (p.Met1Ile)
|
|
|
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter)
|
rs397514661
|
|
NM_002354.3(EPCAM):c.491+1G>T
|
rs606231203
|
|
NM_002354.3(EPCAM):c.556-3_657+288del
|
rs2103756948
|
|
NM_002354.3(EPCAM):c.658-1G>T
|
rs1573400213
|
|
NM_002354.3(EPCAM):c.712del (p.Glu238fs)
|
rs1558438591
|
|
NM_002354.3(EPCAM):c.77-2A>G
|
|
|
NM_002354.3(EPCAM):c.859-2_903+43del
|
rs2103768437
|
|
NM_002354.3(EPCAM):c.87_88del (p.Cys29_Glu30delinsTer)
|
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1717G>T (p.Glu573Ter)
|
|
|
NM_002485.5(NBN):c.177_180dup (p.Asp61fs)
|
|
|
NM_002485.5(NBN):c.1846-1G>A
|
rs61753717
|
|
NM_002485.5(NBN):c.2168_2172del (p.Leu723fs)
|
|
|
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)
|
rs756831345
|
|
NM_002485.5(NBN):c.2235-1G>A
|
|
|
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)
|
rs1586108714
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.835C>T (p.Gln279Ter)
|
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002691.4(POLD1):c.3148del (p.Arg1050fs)
|
rs2122507340
|
|
NM_002691.4(POLD1):c.66_67insG (p.Trp23fs)
|
rs2038473235
|
|
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)
|
rs121434623
|
|
NM_002878.4(RAD51D):c.144+1dup
|
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.263+1617C>T
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.574del (p.Gln192fs)
|
|
|
NM_002878.4(RAD51D):c.746del (p.Asn249fs)
|
rs2091536198
|
|
NM_002878.4(RAD51D):c.866del (p.Gly289fs)
|
|
|
NM_002878.4(RAD51D):c.904-2A>T
|
rs1403784434
|
|
NM_002878.4(RAD51D):c.941G>A (p.Trp314Ter)
|
|
|
NM_002878.4(RAD51D):c.974del (p.Gly325fs)
|
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)
|
rs2125451831
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg)
|
rs1575166666
|
|
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_004006.3(DMD):c.1713del (p.Phe571fs)
|
rs1601808932
|
|
NM_004006.3(DMD):c.2920del (p.Ile974fs)
|
rs2040714896
|
|
NM_004006.3(DMD):c.4072-267del
|
rs753288164
|
|
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.1591T>C (p.Trp531Arg)
|
rs2129018408
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
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_004360.3(CDH1):c.388-?_*2042+?del
|
|
|
NM_004360.4:c.(1008+1_1009-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1320+1_1321-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(2164+1_2165-1)del
|
|
|
NM_004360.4:c.(163+1_164-1)_(1137+1_1138-1)del
|
|
|
NM_004360.4:c.(163+1_164-1)_(387+1_388-1)del
|
|
|
NM_004360.4:c.(387+1_388-1)_(1711+1_1712-1)dup
|
|
|
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1020_1051del (p.Tyr341fs)
|
|
|
NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter)
|
rs587776398
|
|
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter)
|
rs878854676
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1040_1041dup (p.Ala348fs)
|
|
|
NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter)
|
rs1555515726
|
|
NM_004360.5(CDH1):c.1056del (p.Glu353fs)
|
|
|
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)
|
rs876661091
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
NM_004360.5(CDH1):c.1062dup (p.Leu355fs)
|
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1064dup (p.Leu355fs)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1070del (p.Thr357fs)
|
|
|
NM_004360.5(CDH1):c.1078del (p.Thr360fs)
|
|
|
NM_004360.5(CDH1):c.1085del (p.Val362fs)
|
rs1555515739
|
|
NM_004360.5(CDH1):c.1091_1092del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1091del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1093_1094del (p.Val365fs)
|
|
|
NM_004360.5(CDH1):c.1097_1112del (p.Thr366fs)
|
|
|
NM_004360.5(CDH1):c.1098_1099insAA (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1098_1101del (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
NM_004360.5(CDH1):c.1123_1129del (p.Phe375fs)
|
|
|
NM_004360.5(CDH1):c.1131del (p.Thr378fs)
|
rs1131690812
|
|
NM_004360.5(CDH1):c.1135_1137+5delinsTTAGA
|
|
|
NM_004360.5(CDH1):c.1137+2T>C
|
rs786202817
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1141A>T (p.Lys381Ter)
|
|
|
NM_004360.5(CDH1):c.1143_1145delinsA (p.Gly382fs)
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
NM_004360.5(CDH1):c.1155dup (p.Glu386Ter)
|
|
|
NM_004360.5(CDH1):c.1162G>T (p.Glu388Ter)
|
|
|
NM_004360.5(CDH1):c.1170del (p.Asn390fs)
|
rs1567507724
|
|
NM_004360.5(CDH1):c.1189A>T (p.Lys397Ter)
|
rs1960892947
|
|
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
|
rs1962423346
|
|
NM_004360.5(CDH1):c.1211_1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1215del (p.Asn405fs)
|
rs2152133449
|
|
NM_004360.5(CDH1):c.1220del (p.Pro407fs)
|
rs886037822
|
|
NM_004360.5(CDH1):c.1222dup (p.Ala408fs)
|
|
|
NM_004360.5(CDH1):c.1226G>A (p.Trp409Ter)
|
|
|
NM_004360.5(CDH1):c.1227G>A (p.Trp409Ter)
|
rs1960895237
|
|
NM_004360.5(CDH1):c.1228G>T (p.Glu410Ter)
|
|
|
NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)
|
rs1567507825
|
|
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)
|
rs876658865
|
|
NM_004360.5(CDH1):c.1260dup (p.Gly421fs)
|
|
|
NM_004360.5(CDH1):c.1264C>T (p.Gln422Ter)
|
|
|
NM_004360.5(CDH1):c.1266del (p.Gln422fs)
|
|
|
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
|
|
|
NM_004360.5(CDH1):c.1273del (p.Val425fs)
|
|
|
NM_004360.5(CDH1):c.1295_1296delinsTTTT (p.Asn432fs)
|
|
|
NM_004360.5(CDH1):c.1301del (p.Gly434fs)
|
|
|
NM_004360.5(CDH1):c.1312del (p.Thr438fs)
|
rs1555515920
|
|
NM_004360.5(CDH1):c.1315_1316delinsCAA (p.Ala439fs)
|
|
|
NM_004360.5(CDH1):c.1338_1345del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1340_1346del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1342C>T (p.Gln448Ter)
|
|
|
NM_004360.5(CDH1):c.1342dup (p.Gln448fs)
|
rs1960958360
|
|
NM_004360.5(CDH1):c.1343dup (p.Gln449fs)
|
|
|
NM_004360.5(CDH1):c.1350C>G (p.Tyr450Ter)
|
|
|
NM_004360.5(CDH1):c.1350_1362del (p.Gln449_Tyr450insTer)
|
rs2152134718
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
NM_004360.5(CDH1):c.1356_1362del (p.His453fs)
|
rs2152134736
|
|
NM_004360.5(CDH1):c.1369del (p.Thr457fs)
|
rs1960959718
|
|
NM_004360.5(CDH1):c.136del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1373del (p.Asn458fs)
|
rs1960960044
|
|
NM_004360.5(CDH1):c.137del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1380del (p.Pro461fs)
|
rs1567508847
|
|
NM_004360.5(CDH1):c.1382_1389del (p.Pro461fs)
|
|
|
NM_004360.5(CDH1):c.1386del (p.Phe462fs)
|
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs)
|
rs1597897917
|
|
NM_004360.5(CDH1):c.1401del (p.Thr468fs)
|
|
|
NM_004360.5(CDH1):c.1404del (p.Ser469fs)
|
|
|
NM_004360.5(CDH1):c.1416dup (p.Val473fs)
|
|
|
NM_004360.5(CDH1):c.1418del (p.Val473fs)
|
rs1960962662
|
|
NM_004360.5(CDH1):c.1438_1453del (p.Val480fs)
|
|
|
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
|
|
|
NM_004360.5(CDH1):c.1450_1463del (p.Pro484fs)
|
|
|
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs)
|
rs1567508939
|
|
NM_004360.5(CDH1):c.1466dup (p.Pro489_Glu490insTer)
|
|
|
NM_004360.5(CDH1):c.1467del (p.Glu490fs)
|
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)
|
rs778871891
|
|
NM_004360.5(CDH1):c.1484del (p.Val495fs)
|
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.1489G>T (p.Glu497Ter)
|
|
|
NM_004360.5(CDH1):c.1492del (p.Asp498fs)
|
|
|
NM_004360.5(CDH1):c.150_151dup (p.Val51fs)
|
rs2152114474
|
|
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)
|
rs1131690810
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
|
|
NM_004360.5(CDH1):c.1543dup (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1544_1545del (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1551_1554del (p.Met517fs)
|
|
|
NM_004360.5(CDH1):c.1555C>T (p.Gln519Ter)
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+2_1565+3insTT
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1569T>G (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter)
|
rs1596960298
|
|
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)
|
rs886039590
|
|
NM_004360.5(CDH1):c.1582_1583del (p.Asp528fs)
|
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)
|
rs1596960368
|
|
NM_004360.5(CDH1):c.1600dup (p.Glu534fs)
|
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
NM_004360.5(CDH1):c.1612del (p.Asp538fs)
|
rs1555516545
|
|
NM_004360.5(CDH1):c.1616del (p.Thr539fs)
|
rs2152136838
|
|
NM_004360.5(CDH1):c.1629del (p.Thr544fs)
|
|
|
NM_004360.5(CDH1):c.1639G>T (p.Glu547Ter)
|
|
|
NM_004360.5(CDH1):c.1641del (p.Glu547fs)
|
rs2152136881
|
|
NM_004360.5(CDH1):c.1651G>T (p.Glu551Ter)
|
|
|
NM_004360.5(CDH1):c.1660G>T (p.Glu554Ter)
|
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
|
rs1555516567
|
|
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
|
|
|
NM_004360.5(CDH1):c.1686_1687insCG (p.Ala563fs)
|
rs1961079421
|
|
NM_004360.5(CDH1):c.1689_1694delinsACGTA (p.Leu564fs)
|
|
|
NM_004360.5(CDH1):c.1695_1696insTT (p.Ile566fs)
|
rs2152137001
|
|
NM_004360.5(CDH1):c.1705_1708del (p.Asp569fs)
|
|
|
NM_004360.5(CDH1):c.1710del (p.Asn570fs)
|
rs1961081411
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
NM_004360.5(CDH1):c.1712-2A>T
|
rs552325719
|
|
NM_004360.5(CDH1):c.1714dup (p.Ser572fs)
|
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
NM_004360.5(CDH1):c.1733del (p.Thr578fs)
|
|
|
NM_004360.5(CDH1):c.1746dup (p.Leu583fs)
|
rs1131690817
|
|
NM_004360.5(CDH1):c.1763_1764del (p.Val588fs)
|
rs1961158988
|
|
NM_004360.5(CDH1):c.1779del (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1779dup (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1786G>T (p.Glu596Ter)
|
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
|
|
|
NM_004360.5(CDH1):c.1805_1806delinsAG (p.Phe602Ter)
|
|
|
NM_004360.5(CDH1):c.1806_1807del (p.Phe602fs)
|
|
|
NM_004360.5(CDH1):c.1828C>T (p.Gln610Ter)
|
|
|
NM_004360.5(CDH1):c.182delinsGT (p.Thr61fs)
|
|
|
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
|
|
|
NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs)
|
rs2152138436
|
|
NM_004360.5(CDH1):c.1878_1885del (p.Phe626fs)
|
rs2152138505
|
|
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)
|
rs587783047
|
|
NM_004360.5(CDH1):c.1889_1892del (p.Leu630fs)
|
rs2152138523
|
|
NM_004360.5(CDH1):c.1889del (p.Leu630fs)
|
|
|
NM_004360.5(CDH1):c.1893dup (p.His632fs)
|
rs1596963827
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1906_1907insA (p.Ala636fs)
|
|
|
NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)
|
rs1567512585
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs)
|
rs1555516896
|
|
NM_004360.5(CDH1):c.1920dup (p.Gln641fs)
|
rs2152138595
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1926C>G (p.Tyr642Ter)
|
|
|
NM_004360.5(CDH1):c.1928del (p.Asn643fs)
|
|
|
NM_004360.5(CDH1):c.1935_1936+9del
|
|
|
NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter)
|
rs778195664
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1948_1949dup (p.Ile651fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1955del (p.Ile651_Leu652insTer)
|
rs1961224452
|
|
NM_004360.5(CDH1):c.1955dup (p.Leu652fs)
|
|
|
NM_004360.5(CDH1):c.1962_1971del (p.Pro654_Lys655insTer)
|
rs1961224909
|
|
NM_004360.5(CDH1):c.1965del (p.Met656fs)
|
|
|
NM_004360.5(CDH1):c.1973dup (p.Leu658fs)
|
rs1961225620
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1982del (p.Gly661fs)
|
rs1596965628
|
|
NM_004360.5(CDH1):c.1984_1987dup (p.Tyr663Ter)
|
|
|
NM_004360.5(CDH1):c.1993del (p.Ile665fs)
|
rs1567513227
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.1A>T (p.Met1Leu)
|
|
|
NM_004360.5(CDH1):c.2018del (p.Gln673fs)
|
rs1961229029
|
|
NM_004360.5(CDH1):c.2029dup (p.Gln677fs)
|
rs1555517100
|
|
NM_004360.5(CDH1):c.202del (p.Tyr68fs)
|
rs786202151
|
|
NM_004360.5(CDH1):c.2031del (p.Gln677_Val678insTer)
|
|
|
NM_004360.5(CDH1):c.2033dup (p.Thr679fs)
|
|
|
NM_004360.5(CDH1):c.2049_2056del (p.Val683_Ser684insTer)
|
|
|
NM_004360.5(CDH1):c.2054dup (p.Cys686fs)
|
rs2152139452
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2085T>A (p.Cys695Ter)
|
|
|
NM_004360.5(CDH1):c.208dup (p.Ser70fs)
|
rs1555514406
|
|
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)
|
rs121964874
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter)
|
rs149127230
|
|
NM_004360.5(CDH1):c.2114del (p.Leu705fs)
|
|
|
NM_004360.5(CDH1):c.2116C>T (p.Gln706Ter)
|
|
|
NM_004360.5(CDH1):c.2116del (p.Gln706fs)
|
rs1961235503
|
|
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
|
rs1555517153
|
|
NM_004360.5(CDH1):c.2164+1G>T
|
|
|
NM_004360.5(CDH1):c.2164+2T>A
|
|
|
NM_004360.5(CDH1):c.2164+6_2439+966del
|
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2183T>A (p.Leu728Ter)
|
|
|
NM_004360.5(CDH1):c.2190_2193del (p.Leu731fs)
|
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004360.5(CDH1):c.2200A>T (p.Arg734Ter)
|
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.2220del (p.Leu741fs)
|
|
|
NM_004360.5(CDH1):c.2222T>A (p.Leu741Ter)
|
rs2152141461
|
|
NM_004360.5(CDH1):c.2222T>G (p.Leu741Ter)
|
|
|
NM_004360.5(CDH1):c.2253del (p.Asn751fs)
|
rs2152141521
|
|
NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter)
|
rs786202785
|
|
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
|
|
|
NM_004360.5(CDH1):c.2276del (p.Gly759fs)
|
rs1555517680
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.228dup (p.Val77fs)
|
|
|
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
NM_004360.5(CDH1):c.2293dup (p.Gln765fs)
|
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
NM_004360.5(CDH1):c.2297_2307delinsTTGA (p.Asp766fs)
|
|
|
NM_004360.5(CDH1):c.2301del (p.Phe767fs)
|
|
|
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
|
rs1131690813
|
|
NM_004360.5(CDH1):c.2311_2317del (p.Gln771fs)
|
|
|
NM_004360.5(CDH1):c.2324del (p.Gly775fs)
|
rs1060501248
|
|
NM_004360.5(CDH1):c.2351_2352del (p.Arg784fs)
|
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)
|
rs1555517889
|
|
NM_004360.5(CDH1):c.2389dup (p.Tyr797fs)
|
rs1961431691
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
|
|
NM_004360.5(CDH1):c.2422G>T (p.Gly808Ter)
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.2439+1G>T
|
rs1567516230
|
|
NM_004360.5(CDH1):c.2440-396_*224delinsGGA
|
rs2152143625
|
|
NM_004360.5(CDH1):c.244_248del (p.Val82fs)
|
|
|
NM_004360.5(CDH1):c.2474del (p.Pro825fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.247delinsGTGTGG (p.Ile83fs)
|
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)
|
rs1131690822
|
|
NM_004360.5(CDH1):c.2575dup (p.Tyr859fs)
|
|
|
NM_004360.5(CDH1):c.259dup (p.Arg87fs)
|
|
|
NM_004360.5(CDH1):c.25_26del (p.Ser9fs)
|
|
|
NM_004360.5(CDH1):c.261del (p.Arg87fs)
|
rs1555514429
|
|
NM_004360.5(CDH1):c.267dup (p.Arg90fs)
|
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.281_283delinsGT (p.Pro94fs)
|
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
NM_004360.5(CDH1):c.294delinsTT (p.Leu99fs)
|
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.301_314del (p.Tyr101fs)
|
|
|
NM_004360.5(CDH1):c.303C>G (p.Tyr101Ter)
|
|
|
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)
|
rs1555514464
|
|
NM_004360.5(CDH1):c.309G>A (p.Trp103Ter)
|
rs2152126900
|
|
NM_004360.5(CDH1):c.315del (p.Thr106fs)
|
rs1064795703
|
|
NM_004360.5(CDH1):c.318del (p.Tyr107fs)
|
|
|
NM_004360.5(CDH1):c.31del (p.Leu11fs)
|
rs2152113974
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
NM_004360.5(CDH1):c.322del (p.Arg108fs)
|
|
|
NM_004360.5(CDH1):c.325_326del (p.Lys109fs)
|
rs1960519159
|
|
NM_004360.5(CDH1):c.326del (p.Lys109fs)
|
|
|
NM_004360.5(CDH1):c.331del (p.Ser111fs)
|
|
|
NM_004360.5(CDH1):c.333del (p.Thr112fs)
|
|
|
NM_004360.5(CDH1):c.336del (p.Val114fs)
|
|
|
NM_004360.5(CDH1):c.348_351dup (p.Thr118fs)
|
rs2152126989
|
|
NM_004360.5(CDH1):c.360del (p.His121fs)
|
rs878854690
|
|
NM_004360.5(CDH1):c.360dup (p.His121fs)
|
rs878854690
|
|
NM_004360.5(CDH1):c.376_382del (p.Pro126fs)
|
|
|
NM_004360.5(CDH1):c.376_382dup (p.His128fs)
|
rs1567501500
|
|
NM_004360.5(CDH1):c.377del (p.Pro126fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.377dup (p.Pro127fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.384dup (p.Gln129fs)
|
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
NM_004360.5(CDH1):c.410del (p.Ala137fs)
|
|
|
NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.416del (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.419_420del (p.Leu140fs)
|
|
|
NM_004360.5(CDH1):c.423_424dup (p.Phe142fs)
|
|
|
NM_004360.5(CDH1):c.42dup (p.Leu15fs)
|
|
|
NM_004360.5(CDH1):c.431del (p.Asn144fs)
|
|
|
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)
|
rs1555515197
|
|
NM_004360.5(CDH1):c.454_460del (p.Gln152fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.455_465del (p.Gln152fs)
|
rs1555515210
|
|
NM_004360.5(CDH1):c.456_457delinsTT (p.Gln152_Lys153delinsHisTer)
|
|
|
NM_004360.5(CDH1):c.457A>T (p.Lys153Ter)
|
rs1567504575
|
|
NM_004360.5(CDH1):c.45_46insT (p.Gln16fs)
|
|
|
NM_004360.5(CDH1):c.464_467dup (p.Trp156Ter)
|
|
|
NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)
|
rs1555515215
|
|
NM_004360.5(CDH1):c.46C>T (p.Gln16Ter)
|
|
|
NM_004360.5(CDH1):c.471dup (p.Ile158fs)
|
rs1960728762
|
|
NM_004360.5(CDH1):c.479_480del (p.Pro160fs)
|
|
|
NM_004360.5(CDH1):c.47dup (p.Val17fs)
|
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
NM_004360.5(CDH1):c.48+1G>C
|
|
|
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)
|
rs1555515217
|
|
NM_004360.5(CDH1):c.484_485delinsT (p.Cys163fs)
|
|
|
NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)
|
rs1064794230
|
|
NM_004360.5(CDH1):c.48G>A (p.Gln16=)
|
rs749591910
|
|
NM_004360.5(CDH1):c.49-1G>A
|
|
|
NM_004360.5(CDH1):c.49-1G>C
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.497del (p.Asn166fs)
|
|
|
NM_004360.5(CDH1):c.497dup (p.Asn166fs)
|
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
NM_004360.5(CDH1):c.506del (p.Gly169fs)
|
|
|
NM_004360.5(CDH1):c.521del (p.Asn174fs)
|
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
NM_004360.5(CDH1):c.52_53dup (p.Ser19fs)
|
rs1962455626
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.537del (p.Lys179fs)
|
rs2152130050
|
|
NM_004360.5(CDH1):c.552_555del (p.Glu185fs)
|
rs2152130073
|
|
NM_004360.5(CDH1):c.553G>T (p.Glu185Ter)
|
|
|
NM_004360.5(CDH1):c.555del (p.Gly186fs)
|
rs2152130081
|
|
NM_004360.5(CDH1):c.55_74del (p.Ser19fs)
|
|
|
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter)
|
rs761753486
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
NM_004360.5(CDH1):c.586G>T (p.Gly196Ter)
|
|
|
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)
|
rs121964875
|
|
NM_004360.5(CDH1):c.602_603del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602dup (p.Val202fs)
|
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)
|
rs786203576
|
|
NM_004360.5(CDH1):c.60del (p.Trp20fs)
|
rs2152114347
|
|
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
|
|
|
NM_004360.5(CDH1):c.631del (p.Thr211fs)
|
rs1597891145
|
|
NM_004360.5(CDH1):c.632_633del (p.Thr211fs)
|
|
|
NM_004360.5(CDH1):c.634G>T (p.Gly212Ter)
|
|
|
NM_004360.5(CDH1):c.638G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.639G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.639del (p.Trp213fs)
|
|
|
NM_004360.5(CDH1):c.640del (p.Trp213_Leu214insTer)
|
|
|
NM_004360.5(CDH1):c.641dup (p.Lys215fs)
|
|
|
NM_004360.5(CDH1):c.64_80del (p.Cys22fs)
|
|
|
NM_004360.5(CDH1):c.653_654del (p.Glu218fs)
|
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.66C>A (p.Cys22Ter)
|
rs865838543
|
|
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter)
|
rs1962456814
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+2T>C
|
rs1555515297
|
|
NM_004360.5(CDH1):c.688-1G>C
|
|
|
NM_004360.5(CDH1):c.688-2A>G
|
rs2152130983
|
|
NM_004360.5(CDH1):c.696_697del (p.His233fs)
|
rs1060501214
|
|
NM_004360.5(CDH1):c.696_750del (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.698dup (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)
|
rs121964876
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.717del (p.Asn240fs)
|
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.737_760delinsGGGC (p.Met246fs)
|
|
|
NM_004360.5(CDH1):c.763C>T (p.Gln255Ter)
|
|
|
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter)
|
rs786201058
|
|
NM_004360.5(CDH1):c.776del (p.Lys259fs)
|
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)
|
rs876659503
|
|
NM_004360.5(CDH1):c.800_810del (p.Phe267fs)
|
rs1960785108
|
|
NM_004360.5(CDH1):c.807dup (p.Ser270fs)
|
|
|
NM_004360.5(CDH1):c.811_812delinsTTAAGGGATATA (p.Val271fs)
|
|
|
NM_004360.5(CDH1):c.817G>T (p.Glu273Ter)
|
|
|
NM_004360.5(CDH1):c.81del (p.Cys28fs)
|
|
|
NM_004360.5(CDH1):c.82del (p.Cys28fs)
|
rs1962457888
|
|
NM_004360.5(CDH1):c.830del (p.Pro277fs)
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
NM_004360.5(CDH1):c.841_844del (p.Val281fs)
|
|
|
NM_004360.5(CDH1):c.846_847delinsTT (p.Met282_Glu283delinsIleTer)
|
|
|
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
|
|
|
NM_004360.5(CDH1):c.854_855del (p.Thr285fs)
|
|
|
NM_004360.5(CDH1):c.86dup (p.His29fs)
|
|
|
NM_004360.5(CDH1):c.878dup (p.Asn294fs)
|
|
|
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
|
|
|
NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter)
|
rs895188181
|
|
NM_004360.5(CDH1):c.888C>G (p.Tyr296Ter)
|
|
|
NM_004360.5(CDH1):c.907del (p.Thr303fs)
|
rs2152131991
|
|
NM_004360.5(CDH1):c.919C>T (p.Gln307Ter)
|
|
|
NM_004360.5(CDH1):c.935del (p.Pro312fs)
|
rs2152132050
|
|
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
NM_004360.5(CDH1):c.943_944del (p.Asn315fs)
|
rs2152132067
|
|
NM_004360.5(CDH1):c.943_946del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.944del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.968del (p.Thr323fs)
|
|
|
NM_004360.5(CDH1):c.970G>T (p.Gly324Ter)
|
|
|
NM_004360.5(CDH1):c.971del (p.Gly324fs)
|
|
|
NM_004360.5(CDH1):c.988dup (p.Thr330fs)
|
rs2152132139
|
|
NM_004448.4(ERBB2):c.1610del (p.Gly537fs)
|
rs2059127438
|
|
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser)
|
rs28933369
|
|
NM_004448.4(ERBB2):c.3484_3485insG (p.Pro1162fs)
|
rs2059860543
|
|
NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs)
|
rs1567755946
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)
|
rs121908567
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005215.4(DCC):c.4124C>A (p.Pro1375His)
|
rs387906555
|
|
NM_005215.4(DCC):c.503T>C (p.Met168Thr)
|
rs121912967
|
|
NM_005215.4(DCC):c.947del (p.Asn316fs)
|
rs2040184914
|
|
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter)
|
rs121912576
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs)
|
|
|
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter)
|
rs121912577
|
|
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer)
|
rs1910183166
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)
|
rs377767360
|
|
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His)
|
rs121912578
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter)
|
rs121912579
|
|
NM_005359.6(SMAD4):c.667+1G>C
|
|
|
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)
|
rs2144427253
|
|
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_006015.6(ARID1A):c.4689del (p.Pro1563_Met1564insTer)
|
rs2081119463
|
|
NM_006015.6(ARID1A):c.5715del (p.Lys1905fs)
|
rs2081171632
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
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.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
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_006218.4(PIK3CA):c.685del (p.Thr229fs)
|
rs1724405916
|
|
NM_006231.4(POLE):c.2330del (p.Lys777fs)
|
rs2042774602
|
|
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)
|
rs778238908
|
|
NM_006231.4(POLE):c.579-2A>G
|
rs2043088809
|
|
NM_006361.6(HOXB13):c.585G>A (p.Trp195Ter)
|
rs867793282
|
|
NM_006361.6(HOXB13):c.633C>A (p.Cys211Ter)
|
rs760440566
|
|
NM_006361.6(HOXB13):c.760_763dup (p.Leu255fs)
|
|
|
NM_006361.6(HOXB13):c.775dup (p.Gln259fs)
|
|
|
NM_006361.6(HOXB13):c.814A>T (p.Lys272Ter)
|
|
|
NM_006361.6(HOXB13):c.844_845del (p.Ala282fs)
|
|
|
NM_007194.4(CHEK2):c.1067C>A (p.Ser356Ter)
|
|
|
NM_007194.4(CHEK2):c.1096-1G>T
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.1567del (p.Arg523fs)
|
rs587782684
|
|
NM_007194.4(CHEK2):c.1607del (p.Pro536fs)
|
rs1555911551
|
|
NM_007194.4(CHEK2):c.468del (p.Ser155_Tyr156insTer)
|
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.668del (p.Met222_Ser223insTer)
|
|
|
NM_007194.4(CHEK2):c.684-1G>A
|
rs1298667185
|
|
NM_007194.4(CHEK2):c.712_713dup (p.Glu239fs)
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.792+1G>A
|
rs1555921011
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
|
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.847-12_847-2del
|
rs1410392419
|
|
NM_007194.4(CHEK2):c.847-1G>T
|
|
|
NM_007194.4(CHEK2):c.847-2A>G
|
rs1601753141
|
|
NM_007194.4(CHEK2):c.908+1540_1095+330del
|
|
|
NM_007194.4(CHEK2):c.908+2del
|
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1378del (p.Ile460fs)
|
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.1439del (p.Asn480fs)
|
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)
|
rs80357695
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)
|
rs398122662
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs)
|
rs80357661
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2860_2864del (p.Leu954fs)
|
rs1597867185
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3100_3101del (p.Asn1034fs)
|
|
|
NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter)
|
rs397509035
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3388del (p.Ser1130fs)
|
rs886040123
|
|
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs)
|
rs80357577
|
|
NM_007294.4(BRCA1):c.342_343del (p.Ser114_Pro115insTer)
|
rs80357881
|
|
NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs)
|
rs80357857
|
|
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)
|
rs80357296
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3932del (p.Asn1311fs)
|
rs80357504
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs)
|
rs397509164
|
|
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)
|
rs786202631
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs)
|
rs80357882
|
|
NM_007294.4(BRCA1):c.4579G>T (p.Glu1527Ter)
|
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu)
|
rs80357261
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)
|
rs2051929740
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.593+1G>A
|
rs1567804153
|
|
NM_007294.4(BRCA1):c.603del (p.Gln202fs)
|
|
|
NM_007294.4(BRCA1):c.616C>T (p.Gln206Ter)
|
rs397509301
|
|
NM_007294.4(BRCA1):c.670+1G>T
|
rs398122706
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_016373.4(WWOX):c.1056G>C (p.Met352Ile)
|
rs2151386374
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)
|
rs119487098
|
|
NM_017412.4(FZD3):c.888del (p.Phe296fs)
|
rs765036679
|
|
NM_017763.6(RNF43):c.337C>T (p.Arg113Ter)
|
rs1567880628
|
|
NM_017763.6(RNF43):c.394C>T (p.Arg132Ter)
|
rs786205215
|
|
NM_018723.4(RBFOX1):c.406del (p.Met136fs)
|
rs2093621567
|
|
NM_020975.6(RET):c.99_100del (p.Asp34fs)
|
rs1837613320
|
|
NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)
|
rs119473032
|
|
NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro)
|
rs28937897
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1179del (p.Lys393fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter)
|
rs1597096243
|
|
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer)
|
rs1966967065
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2235del (p.Ala746fs)
|
rs1966858562
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
NM_024675.4(PALB2):c.2834+1G>A
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+1G>T
|
rs587776419
|
|
NM_024675.4(PALB2):c.2834+2T>C
|
rs864622481
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2T>A (p.Met1Lys)
|
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3114-1_3201+2del
|
rs2142298541
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
NM_024675.4(PALB2):c.3202-1G>A
|
rs515726111
|
|
NM_024675.4(PALB2):c.3263del (p.Pro1088fs)
|
rs1966509881
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.49-1del
|
rs1967113484
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.609del (p.Lys203fs)
|
|
|
NM_024675.4(PALB2):c.659del (p.Ser220fs)
|
|
|
NM_024675.4(PALB2):c.745_749del (p.Pro249fs)
|
rs876659326
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.839_840insT (p.Ile281fs)
|
rs1967016153
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_032043.3(BRIP1):c.1206del (p.Arg403fs)
|
|
|
NM_032043.3(BRIP1):c.1328_1334del (p.Cys443fs)
|
rs2145299550
|
|
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
|
|
|
NM_032043.3(BRIP1):c.1774del (p.Trp592fs)
|
rs2077606796
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2095A>T (p.Lys699Ter)
|
|
|
NM_032043.3(BRIP1):c.220dup (p.Glu74fs)
|
|
|
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2300_2303del (p.Glu767fs)
|
|
|
NM_032043.3(BRIP1):c.2493-1G>C
|
rs786203451
|
|
NM_032043.3(BRIP1):c.24T>G (p.Tyr8Ter)
|
rs752411477
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2823_2826dup (p.Val943fs)
|
|
|
NM_032043.3(BRIP1):c.2830del (p.Gln944fs)
|
rs2061353736
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3307_3308del (p.Asp1102_Ile1103insTer)
|
|
|
NM_032043.3(BRIP1):c.337_343del (p.Thr113fs)
|
|
|
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup)
|
rs2061304922
|
|
NM_032043.3(BRIP1):c.3592dup (p.Ile1198fs)
|
|
|
NM_032043.3(BRIP1):c.508-1G>A
|
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)
|
rs2077991700
|
|
NM_032977.4(CASP10):c.769C>T (p.Gln257Ter)
|
rs121909775
|
|
NM_058216.3(RAD51C):c.1027-2A>G
|
rs587780835
|
|
NM_058216.3(RAD51C):c.1129T>C (p.Ter377Gln)
|
|
|
NM_058216.3(RAD51C):c.114_117dup (p.Glu40fs)
|
|
|
NM_058216.3(RAD51C):c.146-1G>C
|
|
|
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
|
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
NM_058216.3(RAD51C):c.965+1del
|
|
|
NM_058216.3(RAD51C):c.966-1G>T
|
rs876658272
|
|
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.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_152424.4(AMER1):c.2422_2423insG (p.Thr808fs)
|
rs1930230724
|
|
NM_152424.4(AMER1):c.3226A>T (p.Lys1076Ter)
|
rs1930207901
|
|
NM_152424.4(AMER1):c.640del (p.Val214fs)
|
rs1930277434
|
|
NM_173653.4(SLC9A9):c.587del (p.Asn196fs)
|
rs1933531491
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala)
|
rs121908500
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.2004G>C (p.Glu668Asp)
|
rs1554040964
|
|
NM_198253.3(TERT):c.337dup (p.Glu113fs)
|
rs1554043088
|
|
NR_030286.1(MIR559):n.278_23134del
|
|
|
PDGRL, 2-BP DEL
|
|
|
Single allele
|
|
|
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
|
|