NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
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_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
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_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
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_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
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.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.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.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.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_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.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
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.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.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg)
|
rs121908439
|
0.00001
|
GRCh37/hg19 2p21(chr2:47511660-47641537)x1
|
|
|
GRCh37/hg19 2p21(chr2:47547722-47641537)x1
|
|
|
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.47470308_47807597del
|
|
|
NC_000002.12:g.(?_47369148)_(47387028_?)del
|
|
|
NC_000002.12:g.(?_47377014)_(47377077_?)del
|
|
|
NC_000002.12:g.(?_47378953)_(47387028_?)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.(?_47412414)_(47483228_?)del
|
|
|
NC_000002.12:g.(?_47482779)_(47482949_?)del
|
|
|
NC_000002.12:g.(?_47790927)_(47791123_?)del
|
|
|
NC_000002.12:g.(?_47790927)_(47801155_?)del
|
|
|
NC_000002.12:g.(?_47803420)_(47805027_?)del
|
|
|
NC_000002.12:g.47429742_47429758del
|
|
|
NC_000002.12:g.47430139_47449418del
|
|
|
NC_000002.12:g.47806204_47806207del
|
|
|
NC_000003.11:g.37089454_37101079del
|
|
|
NC_000003.12:g.(?_36996619)_(37001053_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(5999275_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6002636_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6006031_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6009106_?)del
|
|
|
NC_000007.14:g.(?_5997326)_(6004058_?)del
|
|
|
NC_000007.14:g.(?_6003690)_(6004058_?)del
|
|
|
NG_007111.1:g.2007_15002del
|
|
|
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.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.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.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs)
|
rs786202336
|
|
NM_000179.3(MSH6):c.1085del (p.Pro362fs)
|
rs267608056
|
|
NM_000179.3(MSH6):c.1093_1099dup (p.His367fs)
|
rs1572721655
|
|
NM_000179.3(MSH6):c.1093dup (p.Trp365fs)
|
|
|
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.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)
|
|
|
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.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.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.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.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.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.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.1299T>A (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
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.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.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.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.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.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_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)
|
rs1553412835
|
|
NM_000179.3(MSH6):c.1426_1427insGGGCCGTTATTCAGATTCCCTGGTGCAGA (p.Lys476fs)
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
NM_000179.3(MSH6):c.1437del (p.Lys479_Val480insTer)
|
|
|
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.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.1492_1517dup (p.Asp506fs)
|
|
|
NM_000179.3(MSH6):c.1507_1519dup (p.Arg507delinsIleGlnValTer)
|
|
|
NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)
|
|
|
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.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)
|
|
|
NM_000179.3(MSH6):c.1564_1565del (p.Gln522fs)
|
|
|
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.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>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.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.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.1632_1635del (p.Lys545fs)
|
rs267608064
|
|
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.1677C>A (p.Cys559Ter)
|
|
|
NM_000179.3(MSH6):c.1686_1687dup (p.Thr563fs)
|
|
|
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.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
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.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.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.1809_1813del (p.Lys603fs)
|
|
|
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
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.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.1859del (p.Gly620fs)
|
|
|
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.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.1918del (p.Glu640fs)
|
|
|
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)
|
rs1553413305
|
|
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.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.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.2010del (p.Gly670_Leu671insTer)
|
rs1060502918
|
|
NM_000179.3(MSH6):c.2020_2057del (p.Gly674fs)
|
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
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.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.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.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.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2118del (p.Phe706fs)
|
rs1572725803
|
|
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.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.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.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.2263_2273del (p.Glu755fs)
|
|
|
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.2281_2282del (p.Arg761fs)
|
rs1114167721
|
|
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.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2296dup (p.His766fs)
|
rs1114167712
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
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.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.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.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)
|
rs876661193
|
|
NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)
|
|
|
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.2403dup (p.Pro802fs)
|
|
|
NM_000179.3(MSH6):c.2412_2413del (p.Lys804fs)
|
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.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.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.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.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.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.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.2607_2617del (p.Cys869fs)
|
|
|
NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)
|
|
|
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.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.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2665dup (p.Gln889fs)
|
rs1553413985
|
|
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.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.2749dup (p.Asp917fs)
|
rs1669506824
|
|
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.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.2805dup (p.Asp936Ter)
|
rs876659189
|
|
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.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2845_2846del (p.Gln949fs)
|
rs1572728922
|
|
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.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)
|
rs1114167714
|
|
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.2897_2898dup (p.Ile967fs)
|
rs2104429347
|
|
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.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.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.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.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.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.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.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.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
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.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.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.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.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.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.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-433_3556+228del
|
|
|
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.3195_3198del (p.Asn1065fs)
|
rs267608085
|
|
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.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.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.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.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.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.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.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.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
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.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3378del (p.Ala1127fs)
|
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3383_3384dup (p.Cys1129fs)
|
rs1572735943
|
|
NM_000179.3(MSH6):c.3386del (p.Cys1129fs)
|
|
|
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
|
rs1669770252
|
|
NM_000179.3(MSH6):c.3399delinsGTA (p.Thr1133_Gly1134insTer)
|
|
|
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.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.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.345del (p.Phe115fs)
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
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.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3483_3502del (p.Ala1162fs)
|
|
|
NM_000179.3(MSH6):c.3486dup (p.Glu1163Ter)
|
|
|
NM_000179.3(MSH6):c.3487del (p.Glu1163fs)
|
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3506_3524del (p.Pro1169fs)
|
rs2104507417
|
|
NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)
|
rs1473648816
|
|
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.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
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.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.3522_3524delinsAT (p.Phe1174fs)
|
rs1572738865
|
|
NM_000179.3(MSH6):c.3523del (p.Thr1175fs)
|
|
|
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.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.3554C>A (p.Ser1185Ter)
|
|
|
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)
|
rs1572739043
|
|
NM_000179.3(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer)
|
rs1553332312
|
|
NM_000179.3(MSH6):c.3556+1G>T
|
rs1060502926
|
|
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.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.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.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.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3609del (p.His1203fs)
|
rs2104524646
|
|
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.3635dup (p.Asp1213fs)
|
rs63750731
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
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.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3657dup (p.Ala1220fs)
|
|
|
NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)
|
rs1553332996
|
|
NM_000179.3(MSH6):c.3683dup (p.Asn1229fs)
|
|
|
NM_000179.3(MSH6):c.3690del (p.Val1231fs)
|
rs730881829
|
|
NM_000179.3(MSH6):c.3694_3695dup (p.Lys1233fs)
|
|
|
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.369del (p.Lys125fs)
|
|
|
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.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)
|
rs878853736
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)
|
rs587779287
|
|
NM_000179.3(MSH6):c.3726dup (p.Thr1243fs)
|
|
|
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.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.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.3746_3749dup (p.His1250fs)
|
rs587779936
|
|
NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3757_3758insA (p.Val1253fs)
|
rs587779289
|
|
NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)
|
|
|
NM_000179.3(MSH6):c.3763_3767dup (p.Tyr1256Ter)
|
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
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.377C>G (p.Ser126Ter)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3788dup (p.Leu1264fs)
|
|
|
NM_000179.3(MSH6):c.3792del (p.Gly1265fs)
|
rs1553333164
|
|
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.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3812dup (p.Glu1272fs)
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
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.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.3843_3847dup (p.Ile1283fs)
|
|
|
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_3853dup (p.Phe1285fs)
|
|
|
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.3854_3861del (p.Thr1284_Phe1285insTer)
|
rs1553333449
|
|
NM_000179.3(MSH6):c.3856_3859del (p.Leu1286fs)
|
rs2104555974
|
|
NM_000179.3(MSH6):c.3859_3862dup (p.Lys1288delinsIleTer)
|
|
|
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.3863_3864del (p.Lys1288fs)
|
|
|
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.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3880_3892del (p.Cys1294fs)
|
rs1553333497
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
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.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.3915_3916insA (p.Ala1306fs)
|
|
|
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)
|
rs1553333594
|
|
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.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.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.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.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.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.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.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.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.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.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+2T>A
|
rs267608036
|
|
NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)
|
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
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.478C>T (p.Gln160Ter)
|
rs1114167692
|
|
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.506dup (p.Pro170fs)
|
|
|
NM_000179.3(MSH6):c.522_523del (p.Arg174fs)
|
rs267608037
|
|
NM_000179.3(MSH6):c.533dup (p.Ala179fs)
|
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
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.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.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.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.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.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.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
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.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.807dup (p.Lys270Ter)
|
|
|
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)
|
rs63750552
|
|
NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)
|
|
|
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.850_851insC (p.Asp284fs)
|
rs1572720562
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
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.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.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.940del (p.Ser314fs)
|
rs2104307566
|
|
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.976_977insTTGCG (p.Ala326fs)
|
rs2104310469
|
|
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_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.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.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.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>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.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>T
|
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.1039-2A>G
|
rs267607815
|
|
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.1061del (p.Gly354fs)
|
rs63750472
|
|
NM_000249.4(MLH1):c.1071_1078del (p.Gly357_Glu358insTer)
|
rs587778884
|
|
NM_000249.4(MLH1):c.1072del (p.Glu358fs)
|
rs587778885
|
|
NM_000249.4(MLH1):c.1084del (p.Ser362fs)
|
|
|
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.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.1145dup (p.Met383fs)
|
rs587778889
|
|
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+5G>C
|
rs267607710
|
|
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.117-1del
|
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
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.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.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.122A>G (p.Asp41Gly)
|
rs63751094
|
|
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer)
|
rs1575536254
|
|
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.1261del (p.Ser421fs)
|
rs63750293
|
|
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.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.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
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.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.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.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.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.1441del (p.Met481fs)
|
rs878853777
|
|
NM_000249.4(MLH1):c.1447G>T (p.Glu483Ter)
|
|
|
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.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.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.150dup (p.Val51fs)
|
rs63749956
|
|
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.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>T
|
rs267607832
|
|
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.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.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.1635dup (p.Lys546fs)
|
|
|
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.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>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.1672G>T (p.Glu558Ter)
|
rs63751081
|
|
NM_000249.4(MLH1):c.1673_1676dup (p.Phe560fs)
|
|
|
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.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.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.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.1725del (p.Arg575fs)
|
rs63751685
|
|
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>T
|
rs267607852
|
|
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.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.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.1767del (p.Ala589_Leu590insTer)
|
|
|
NM_000249.4(MLH1):c.1769T>A (p.Leu590Ter)
|
|
|
NM_000249.4(MLH1):c.1769del (p.Ala589_Leu590insTer)
|
rs63749979
|
|
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.1789_1790insATCT (p.Trp597fs)
|
|
|
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.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.1841_1842del (p.Phe614fs)
|
|
|
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.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.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.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.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.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.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.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.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.1957del (p.Leu653fs)
|
|
|
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.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1975_1976del (p.Arg659fs)
|
rs63750131
|
|
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.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+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>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.1990-2A>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.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.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.2030dup (p.Ser677fs)
|
rs2085469647
|
|
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.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2052T>A (p.Tyr684Ter)
|
|
|
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+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>G
|
rs267607716
|
|
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.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.2100_2103+13delinsCTG
|
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2102dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
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.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.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.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.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.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.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.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.2206G>T (p.Glu736Ter)
|
rs876659608
|
|
NM_000249.4(MLH1):c.2212G>T (p.Gly738Ter)
|
rs1553665866
|
|
NM_000249.4(MLH1):c.2218dup (p.Ile740fs)
|
rs587778989
|
|
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.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
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.2259dup (p.Glu754Ter)
|
|
|
NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)
|
rs267607900
|
|
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.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.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.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.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.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+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+1G>C
|
|
|
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.307-797_677+1061del
|
|
|
NM_000249.4(MLH1):c.307-820_380+896del
|
|
|
NM_000249.4(MLH1):c.313dup (p.Ala105fs)
|
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)
|
rs63750507
|
|
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.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.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>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.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.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.454-1G>A
|
rs193922370
|
|
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.461del (p.Asp154fs)
|
|
|
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>G (p.Tyr157Ter)
|
|
|
NM_000249.4(MLH1):c.473del (p.Asn158fs)
|
rs2082051355
|
|
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.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.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.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.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.61del (p.Ala21fs)
|
rs63750581
|
|
NM_000249.4(MLH1):c.620dup (p.Pro208fs)
|
|
|
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.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.648del (p.Arg217fs)
|
|
|
NM_000249.4(MLH1):c.649del (p.Arg217fs)
|
rs63750380
|
|
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+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.678-3_678-2del
|
rs267607783
|
|
NM_000249.4(MLH1):c.678-9_693del
|
rs587779036
|
|
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.688_691del (p.Glu230fs)
|
|
|
NM_000249.4(MLH1):c.693del (p.Ile231fs)
|
rs63750764
|
|
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.731G>A (p.Gly244Asp)
|
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>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.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.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.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.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.815T>A (p.Leu272Ter)
|
rs63750584
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000249.4(MLH1):c.821_824dup (p.Ile276fs)
|
rs63751439
|
|
NM_000249.4(MLH1):c.822del (p.Ala275fs)
|
|
|
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.83C>T (p.Pro28Leu)
|
rs63750792
|
|
NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)
|
rs63750938
|
|
NM_000249.4(MLH1):c.842C>T (p.Ala281Val)
|
rs63749950
|
|
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.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.86C>G (p.Ala29Gly)
|
rs63750216
|
|
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+4A>G
|
rs267607777
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884_884+3del
|
rs587779050
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-206_997del
|
rs1553647795
|
|
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.911del (p.Asp304fs)
|
rs1553647969
|
|
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.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.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-?_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.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.1012G>A (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.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.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>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+2T>A
|
|
|
NM_000251.3(MSH2):c.1076+2T>G
|
|
|
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.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.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.1108del (p.Ala370fs)
|
rs63749814
|
|
NM_000251.3(MSH2):c.110del (p.Phe37fs)
|
rs63751056
|
|
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>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.1144dup (p.Arg382fs)
|
rs63750496
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1157dup (p.Asp386fs)
|
rs730881774
|
|
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.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.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.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.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.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.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_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
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.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.1276+1G>A
|
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.1277-2A>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_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.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.1311_1312dup (p.Thr438fs)
|
|
|
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.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.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.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.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.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.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_1434dup (p.Glu480fs)
|
rs587779091
|
|
NM_000251.3(MSH2):c.1433del (p.Leu478fs)
|
|
|
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
|
rs1666728055
|
|
NM_000251.3(MSH2):c.1442T>A (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.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.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.1500dup (p.Arg501fs)
|
rs587779094
|
|
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>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.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)
|
rs1573553178
|
|
NM_000251.3(MSH2):c.1534_1535delinsG (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.1536del (p.Lys512fs)
|
|
|
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.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.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.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.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.1662-374_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.1667_1668insA (p.Thr557fs)
|
rs1553367587
|
|
NM_000251.3(MSH2):c.1667del (p.Lys555_Leu556insTer)
|
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.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.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.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1744del (p.Val582fs)
|
rs587779964
|
|
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>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.1759G>C (p.Gly587Arg)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-2_1783del
|
rs1064795329
|
|
NM_000251.3(MSH2):c.1760-361_2634+838del
|
|
|
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.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.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.1809del (p.Asp603fs)
|
rs63751129
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
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.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>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1862_1907del (p.Arg621fs)
|
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865del (p.Pro622fs)
|
|
|
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.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.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.1905dup (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1908_1923del (p.Ser637fs)
|
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
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.1939G>T (p.Glu647Ter)
|
rs63750078
|
|
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
|
|
|
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.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.1972G>T (p.Glu658Ter)
|
|
|
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.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.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.2003del (p.Thr668fs)
|
rs1573567630
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
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.2013del (p.Asn671fs)
|
rs1553368988
|
|
NM_000251.3(MSH2):c.2015del (p.Met672fs)
|
rs63751161
|
|
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.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.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.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.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
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.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>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.212-478T>G
|
rs587779138
|
|
NM_000251.3(MSH2):c.2127del (p.Ala710fs)
|
|
|
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.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.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.2191G>T (p.Glu731Ter)
|
rs63749802
|
|
NM_000251.3(MSH2):c.2194_2209dup (p.Arg737fs)
|
|
|
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.2211-2A>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.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.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.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.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.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.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.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.2365del (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2374_2375del (p.Asn792fs)
|
|
|
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.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.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.2437dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)
|
rs1573436369
|
|
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.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.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.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.2529_2530del (p.Cys843_Ala844insTer)
|
rs63749975
|
|
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.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.2572G>T (p.Gly858Ter)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2588_2589del (p.Gly862_Tyr863insTer)
|
|
|
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)
|
rs1553370435
|
|
NM_000251.3(MSH2):c.2593_2597del (p.Ile865fs)
|
rs587779151
|
|
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.2629del (p.Arg877fs)
|
rs886041613
|
|
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>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.2635-1G>A
|
rs267608020
|
|
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.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.267_268insCA (p.Lys90fs)
|
|
|
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)
|
rs1553350126
|
|
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.295A>T (p.Arg99Ter)
|
|
|
NM_000251.3(MSH2):c.29dup (p.Leu11fs)
|
rs63750589
|
|
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.321del (p.Gly108fs)
|
rs1573436948
|
|
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.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.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+2T>C
|
rs1558457533
|
|
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.367-681_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.425C>A (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
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.472C>T (p.Gln158Ter)
|
rs63751226
|
|
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.491delinsAT (p.Gly164fs)
|
|
|
NM_000251.3(MSH2):c.493_499del (p.Tyr165fs)
|
|
|
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.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>G (p.Leu173Arg)
|
rs63750070
|
|
NM_000251.3(MSH2):c.518del (p.Leu173fs)
|
rs63750069
|
|
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.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.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.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.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.644del (p.Gln215fs)
|
rs1558459885
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
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.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.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.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.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.778G>T (p.Glu260Ter)
|
|
|
NM_000251.3(MSH2):c.782_783insA (p.Met261fs)
|
rs786204144
|
|
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.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.793-2A>C
|
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.832G>T (p.Glu278Ter)
|
rs1558464008
|
|
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.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.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.881_882del (p.Thr293_Phe294insTer)
|
rs63751115
|
|
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.920_923del (p.Val307fs)
|
rs2104179024
|
|
NM_000251.3(MSH2):c.922dup (p.Arg308fs)
|
|
|
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.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.948del (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.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.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.973dup (p.Ser325fs)
|
rs63749945
|
|
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)
|
rs63750630
|
|
NM_000251.3(MSH2):c.989dup (p.Asn331fs)
|
rs1114167813
|
|
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)
|
rs63750468
|
|
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_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
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-?_(*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_000535.7(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.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
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+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
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.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.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.1249_1253dup (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
|
|
|
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.1306dup (p.Ser436fs)
|
rs63750106
|
|
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.1354_1355del (p.Gly452fs)
|
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
|
|
|
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1485dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1486dup (p.His496fs)
|
|
|
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.1545C>A (p.Cys515Ter)
|
|
|
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
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.1588C>T (p.Gln530Ter)
|
|
|
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.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.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.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.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.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
|
|
|
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.1845del (p.Val616fs)
|
|
|
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.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
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.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.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.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
|
|
|
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.20C>A (p.Ser7Ter)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
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.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.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.2275+1G>C
|
rs1554294393
|
|
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.2324del (p.Asn775fs)
|
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
|
|
|
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
|
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
|
|
|
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.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>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.2516_2519del (p.His839fs)
|
|
|
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.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.312del (p.Phe104fs)
|
rs1785372371
|
|
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.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.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
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>T (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.407del (p.Met136fs)
|
|
|
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.452_457delinsCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
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.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.538-478_705+456del
|
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
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.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.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.68_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
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.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.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_742insTGAAG (p.Ser248Ter)
|
rs756653193
|
|
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.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.781del (p.Asp261fs)
|
|
|
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.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.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.857_864del (p.Asp286fs)
|
rs267608154
|
|
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.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.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.972del (p.Asn324fs)
|
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
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.804-70_2445+71del
|
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
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_002354.2(EPCAM):c.859-1462_*1999del
|
|
|
NM_002354.2(EPCAM):c.859-?_*415del
|
|
|
NM_002354.2(EPCAM):c.904-?_945+?del
|
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
|
rs104893815
|
|
NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs)
|
rs587776769
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NR_030286.1(MIR559):n.278_23134del
|
|
|
Single allele
|
|
|