NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)
|
rs143517321
|
0.00003
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)
|
rs61751644
|
0.00003
|
NM_000251.3(MSH2):c.1429A>C (p.Asn477His)
|
rs587781346
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln)
|
rs63750725
|
0.00002
|
NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)
|
rs772514245
|
0.00002
|
NM_000249.4(MLH1):c.482C>T (p.Thr161Met)
|
rs763992299
|
0.00002
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
NM_000179.3(MSH6):c.1809G>A (p.Lys603=)
|
rs876660790
|
0.00001
|
NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)
|
rs869312798
|
0.00001
|
NM_000179.3(MSH6):c.2876G>A (p.Arg959His)
|
rs757653982
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)
|
rs540252208
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.44C>T (p.Pro15Leu)
|
rs869312800
|
0.00001
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)
|
rs138465383
|
0.00001
|
NM_000251.3(MSH2):c.2458+2T>C
|
rs1278858560
|
0.00001
|
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)
|
rs761529282
|
0.00001
|
NM_000535.7(PMS2):c.1398C>T (p.Gly466=)
|
rs752666485
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NC_000002.12:g.47142010_47142443dup
|
|
|
NM_000179.3(MSH6):c.1021T>G (p.Ser341Ala)
|
rs1558660119
|
|
NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg)
|
rs869312797
|
|
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg)
|
rs752628520
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1184C>T (p.Thr395Ile)
|
rs767658494
|
|
NM_000179.3(MSH6):c.1207C>A (p.Leu403Ile)
|
rs876659223
|
|
NM_000179.3(MSH6):c.1290G>A (p.Gly430=)
|
rs1558661242
|
|
NM_000179.3(MSH6):c.133G>T (p.Gly45Cys)
|
rs978968846
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1400G>A (p.Gly467Asp)
|
rs1558661547
|
|
NM_000179.3(MSH6):c.1401C>T (p.Gly467=)
|
rs1558661556
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.1675T>C (p.Cys559Arg)
|
rs1558662565
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys)
|
rs1558663439
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2161A>C (p.Arg721=)
|
rs537604099
|
|
NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln)
|
rs749746725
|
|
NM_000179.3(MSH6):c.2287G>A (p.Asp763Asn)
|
rs1558664969
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
NM_000179.3(MSH6):c.261-14C>T
|
rs369366445
|
|
NM_000179.3(MSH6):c.2636C>A (p.Ala879Asp)
|
rs1558666061
|
|
NM_000179.3(MSH6):c.2660T>C (p.Leu887Pro)
|
rs1558666142
|
|
NM_000179.3(MSH6):c.2743G>A (p.Ala915Thr)
|
rs1558666565
|
|
NM_000179.3(MSH6):c.2743G>T (p.Ala915Ser)
|
rs1558666565
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
NM_000179.3(MSH6):c.3010A>G (p.Lys1004Glu)
|
rs1558667702
|
|
NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile)
|
rs768925694
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3126A>C (p.Lys1042Asn)
|
rs1558668218
|
|
NM_000179.3(MSH6):c.3139T>C (p.Trp1047Arg)
|
rs1114167753
|
|
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr)
|
rs1558386797
|
|
NM_000179.3(MSH6):c.3214G>A (p.Gly1072Ser)
|
rs1558386938
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)
|
rs63750257
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
NM_000179.3(MSH6):c.3508A>C (p.Ile1170Leu)
|
rs1558389423
|
|
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)
|
rs869312799
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
NM_000179.3(MSH6):c.3801+2T>C
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3963A>G (p.Arg1321=)
|
rs267608125
|
|
NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.4018A>G (p.Ser1340Gly)
|
rs1558395603
|
|
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.475G>A (p.Ala159Thr)
|
rs1553411396
|
|
NM_000179.3(MSH6):c.511G>C (p.Glu171Gln)
|
rs1558656518
|
|
NM_000179.3(MSH6):c.542A>C (p.Glu181Ala)
|
rs1558656620
|
|
NM_000179.3(MSH6):c.556G>T (p.Asp186Tyr)
|
rs1212607928
|
|
NM_000179.3(MSH6):c.884A>T (p.Lys295Ile)
|
rs267608051
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
NM_000179.3(MSH6):c.911T>C (p.Val304Ala)
|
rs1481054050
|
|
NM_000179.3(MSH6):c.971A>G (p.Lys324Arg)
|
rs1558659961
|
|
NM_000249.3(MLH1):c.1668-?_2103+?dup
|
|
|
NM_000249.3(MLH1):c.1732-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)
|
rs1559500884
|
|
NM_000249.4(MLH1):c.1039-2A>G
|
rs267607815
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
NM_000249.4(MLH1):c.113A>C (p.Asn38Thr)
|
rs587778888
|
|
NM_000249.4(MLH1):c.1267A>G (p.Arg423Gly)
|
rs1392665848
|
|
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)
|
rs63751109
|
|
NM_000249.4(MLH1):c.139A>G (p.Ile47Val)
|
rs1559505924
|
|
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-5T>G
|
rs1559578408
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+2T>C
|
rs267607856
|
|
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn)
|
rs1559506199
|
|
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn)
|
rs1559588836
|
|
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln)
|
rs1559590916
|
|
NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser)
|
rs1559591314
|
|
NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)
|
rs1559591546
|
|
NM_000249.4(MLH1):c.1989+5G>C
|
rs267607878
|
|
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser)
|
rs886039424
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.207+5G>C
|
rs587781518
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.2104-1G>A
|
rs587778978
|
|
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)
|
rs869312767
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.380+1G>T
|
rs267607745
|
|
NM_000249.4(MLH1):c.3G>T (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)
|
rs779562531
|
|
NM_000249.4(MLH1):c.453+2T>G
|
rs267607751
|
|
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)
|
rs587779021
|
|
NM_000249.4(MLH1):c.589-2A>C
|
rs267607767
|
|
NM_000249.4(MLH1):c.678-1G>A
|
rs267607784
|
|
NM_000249.4(MLH1):c.716C>T (p.Ala239Val)
|
rs1559534371
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.790+3A>T
|
rs267607792
|
|
NM_000249.4(MLH1):c.790+4A>T
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+5G>A
|
rs267607771
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793_794delinsGT (p.Arg265Val)
|
rs1559539068
|
|
NM_000249.4(MLH1):c.835G>C (p.Val279Leu)
|
rs1559539382
|
|
NM_000249.4(MLH1):c.836T>G (p.Val279Gly)
|
rs1553646683
|
|
NM_000251.2(MSH2):c.(?_-68)_1076+?del
|
|
|
NM_000251.2(MSH2):c.793-?_1276+?dup
|
|
|
NM_000251.3(MSH2):c.(1276+1_1277-1)_(1661+1_1662-1)del
|
|
|
NM_000251.3(MSH2):c.-12G>A
|
rs1558450937
|
|
NM_000251.3(MSH2):c.1033T>G (p.Trp345Gly)
|
rs1558466616
|
|
NM_000251.3(MSH2):c.1071G>A (p.Glu357=)
|
rs587781617
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1077-1G>T
|
rs267607944
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1277-1G>A
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-2A>T
|
rs267607949
|
|
NM_000251.3(MSH2):c.12G>T (p.Gln4His)
|
rs878853800
|
|
NM_000251.3(MSH2):c.1357A>C (p.Met453Leu)
|
rs1558493602
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1659C>T (p.Asn553=)
|
rs869312796
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)
|
rs1553368590
|
|
NM_000251.3(MSH2):c.1850T>C (p.Val617Ala)
|
rs1260310695
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2017G>A (p.Gly673Arg)
|
rs1558519543
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2077T>C (p.Cys693Arg)
|
rs1558519728
|
|
NM_000251.3(MSH2):c.2086C>G (p.Pro696Ala)
|
rs546201898
|
|
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)
|
rs1428704795
|
|
NM_000251.3(MSH2):c.2211-1G>T
|
rs267607979
|
|
NM_000251.3(MSH2):c.2285T>C (p.Leu762Ser)
|
rs1558521698
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
NM_000251.3(MSH2):c.2317A>G (p.Lys773Glu)
|
rs1558521813
|
|
NM_000251.3(MSH2):c.2355T>C (p.His785=)
|
rs1114167840
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-1G>A
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2479G>C (p.Gly827Arg)
|
rs63750478
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+2T>C
|
rs876660546
|
|
NM_000251.3(MSH2):c.271G>C (p.Asp91His)
|
rs1558457163
|
|
NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn)
|
rs1553370893
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+2T>C
|
rs1558457533
|
|
NM_000251.3(MSH2):c.432C>T (p.Ser144=)
|
rs1558459072
|
|
NM_000251.3(MSH2):c.480G>T (p.Gln160His)
|
rs1558459273
|
|
NM_000251.3(MSH2):c.53G>A (p.Gly18Asp)
|
rs1200418561
|
|
NM_000251.3(MSH2):c.793-2A>C
|
rs267607933
|
|
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)
|
rs1558464315
|
|
NM_000251.3(MSH2):c.925G>C (p.Ala309Pro)
|
rs781257094
|
|
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)
|
rs63750640
|
|
NM_000535.5(PMS2):c.904-?_1144+?del
|
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys)
|
rs1562637166
|
|
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly)
|
rs1562701448
|
|
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly)
|
rs1562634610
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1533G>T (p.Thr511=)
|
rs542520309
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.195T>C (p.Leu65=)
|
rs780080040
|
|
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)
|
rs1562615666
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.250+8G>A
|
rs1057520511
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.475G>C (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser)
|
rs869312802
|
|