ClinVar Miner

List of variants reported as likely pathogenic for colorectal neoplasm

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1767
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) rs763151358 0.00007
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp) rs544654228 0.00004
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_006231.4(POLE):c.2929G>A (p.Gly977Arg) rs142563997 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_170693.3(SGK2):c.380G>A (p.Arg127Gln) rs35187177 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys) rs1060502934 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.2504del (p.Gln835fs) rs1572727440 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu) rs375966384 0.00001
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln) rs587782324 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn) rs587779272 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu) rs63750119 0.00001
NM_000179.3(MSH6):c.3801+1G>T rs876660943 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 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.306G>A (p.Glu102=) rs63751665 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.3(MSH2):c.2459-6_2459-2del rs1114167841 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 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.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.2007-2A>C rs587782336 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 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.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 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.825A>G (p.Gln275=) rs876659736 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.716A>C (p.Asn239Thr) rs1057519999 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001349798.2(FBXW7):c.1973G>A (p.Arg658Gln) rs759610249 0.00001
NM_001372078.1(REV3L):c.559A>T (p.Arg187Trp) rs1057519367 0.00001
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) rs80338796 0.00001
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_004655.4(AXIN2):c.815+1G>A rs781384784 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006231.4(POLE):c.1346C>T (p.Thr449Met) rs780299012 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_017449.5(EPHB2):c.2356G>A (p.Gly786Arg) rs138551214 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NC_000002.11:g.(47639700_47641407)_(47657081_47672686)dup
NC_000002.11:g.(?_47630252)_(47643578_?)dup
NC_000002.11:g.(?_47630252)_(47643588_?)dup
NC_000002.11:g.(?_47635062)_(47635621_?)del
NC_000002.11:g.(?_47635530)_(47635704_?)dup
NC_000002.11:g.(?_47635530)_(47641567_?)dup
NC_000002.11:g.(?_47635530)_(47672806_?)dup
NC_000002.11:g.(?_47637223)_(47643578_?)dup
NC_000002.11:g.(?_47639533)_(47643588_?)dup
NC_000002.11:g.(?_47639543)_(47639709_?)del
NC_000002.11:g.(?_47641398)_(47657090_?)dup
NC_000002.11:g.(?_47643425)_(47643578_?)dup
NC_000002.11:g.(?_47656871)_(47657090_?)dup
NC_000002.11:g.(?_47656871)_(47698211_?)dup
NC_000002.11:g.(?_47656871)_(47705668_?)dup
NC_000002.11:g.(?_47657001)_(47664874_?)del
NC_000002.11:g.(?_47669476)_(47693957_?)dup
NC_000002.11:g.(?_47690160)_(47693957_?)dup
NC_000002.11:g.(?_47690160)_(47702419_?)dup
NC_000002.11:g.(?_47690170)_(47708011_?)del
NC_000002.11:g.(?_47698094)_(47698211_?)dup
NC_000002.11:g.(?_48018056)_(48018272_?)dup
NC_000002.11:g.(?_48033429)_(48033905_?)del
NC_000002.11:g.(?_48033912)_(48034005_?)del
NC_000002.12:g.(?_47373453)_(47379979_?)dup
NC_000002.12:g.(?_47403011)_(47416439_?)dup
NC_000002.12:g.(?_47403182)_(47416439_?)dup
NC_000002.12:g.(?_47429736)_(47466814_?)del
NC_000002.12:g.(?_47612305)_(47643568_?)del
NC_000002.12:g.(?_47614711)_(47657080_?)del
NC_000002.12:g.(?_47803398)_(47803695_?)dup
NC_000002.12:g.(?_47805433)_(47806875_?)del
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)[3]
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)dup
NC_000003.11:g.(?_37038099)_(37042554_?)dup
NC_000003.11:g.(?_37045882)_(37050406_?)dup
NC_000003.11:g.(?_37053301)_(37059100_?)del
NC_000003.11:g.(?_37053301)_(37083832_?)dup
NC_000003.11:g.(?_37053305)_(37083828_?)dup
NC_000003.11:g.(?_37081667)_(37083832_?)dup
NC_000003.12:g.(?_37006985)_(37008911_?)del
NC_000003.12:g.(?_37008800)_(37008915_?)dup
NC_000003.12:g.(?_37011820)_(37017599_?)del
NC_000003.12:g.(?_37042258)_(37042341_?)dup
NC_000003.12:g.(?_37048507)_(37049027_?)dup
NC_000007.13:g.(6013174_6017218)_(6037055_6038738)del
NC_000007.13:g.(6018328_6022454)_(6027252_6029430)dup
NC_000007.13:g.(6031689_6035164)_(6037055_6038738)del
NC_000007.13:g.(?_6010555)_(6037055_6038738)del
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NC_000007.14:g.(?_5977578)_(5983001_?)dup
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1682del (p.Lys561fs) rs1554082118
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2928_2929del (p.Gly977fs) rs2149880355
NM_000038.6(APC):c.3036T>A (p.Asn1012Lys)
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) rs121913462
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4099C>T (p.Gln1367Ter) rs121913328
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter) rs121913329
NM_000038.6(APC):c.4135G>T (p.Glu1379Ter) rs121913326
NM_000038.6(APC):c.4285C>T (p.Gln1429Ter) rs74535574
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.645+2T>C rs786202351
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter) rs1555055083
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000136.3(FANCC):c.595dup (p.Leu199fs) rs1057519366
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.3(MSH6):c.1100A>G (p.His367Arg) rs1553412495
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.1128_1132del (p.Arg378_Arg379insTer) rs1114167801
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg) rs2104330278
NM_000179.3(MSH6):c.1248del (p.Lys417fs)
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro) rs1251033858
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.1266dup (p.Leu423fs)
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1295T>G (p.Phe432Cys) rs750528093
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro) rs63751405
NM_000179.3(MSH6):c.1316A>G (p.Asp439Gly) rs786202363
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.139_260+1878del
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly) rs63750909
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro) rs773226008
NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln) rs587782706
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter) rs1114167803
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp) rs1669344619
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp) rs1553413050
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1772del (p.Pro591fs) rs786202108
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs) rs2104368213
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1836dup (p.Leu613fs) rs1669381138
NM_000179.3(MSH6):c.1866dup (p.Pro623fs) rs2104372581
NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro) rs1553413288
NM_000179.3(MSH6):c.1912del (p.Glu639fs) rs1553413294
NM_000179.3(MSH6):c.1933del (p.Glu645fs) rs1558663559
NM_000179.3(MSH6):c.1951_1952dup (p.Gly652fs) rs2104378465
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.3(MSH6):c.1972_3439-358del
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.1997_1998del (p.Glu665_Ser666insTer) rs1572725235
NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs) rs878853711
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg) rs587779228
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter) rs63750832
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser) rs587779231
NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu) rs2104389604
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter) rs1558664335
NM_000179.3(MSH6):c.215_258del (p.Leu72fs) rs1553408380
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs) rs1669432834
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn) rs1558664787
NM_000179.3(MSH6):c.2260dup (p.Thr754fs) rs1553413640
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs) rs876661025
NM_000179.3(MSH6):c.2299A>C (p.Thr767Pro)
NM_000179.3(MSH6):c.2300C>A (p.Thr767Asn) rs587781462
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2302_2304del (p.Pro768del) rs63750647
NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro) rs863224623
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.3(MSH6):c.2419del (p.Glu807fs) rs1669460814
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
NM_000179.3(MSH6):c.2566_2572del (p.Ile856fs) rs1669481204
NM_000179.3(MSH6):c.260+1G>C rs1553408467
NM_000179.3(MSH6):c.260+2T>C rs1553408469
NM_000179.3(MSH6):c.260+2T>G
NM_000179.3(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.3(MSH6):c.2602del (p.Met868fs) rs1572727797
NM_000179.3(MSH6):c.261-2A>T
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer) rs1553414029
NM_000179.3(MSH6):c.2759del (p.Lys920fs) rs1114167794
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter) rs878853724
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter) rs1553414236
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His) rs1348956744
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser) rs63749919
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys) rs63749919
NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter) rs2104431856
NM_000179.3(MSH6):c.2943dup (p.Pro982fs) rs2104432135
NM_000179.3(MSH6):c.2977del (p.Glu993fs)
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.2T>C (p.Met1Thr)
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.3037AAG[1] (p.Lys1014del) rs267608073
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.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.3(MSH6):c.3172+1G>A rs587779255
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.3(MSH6):c.3173-1G>A rs397515875
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-1del
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr) rs1558386797
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs) rs1057517552
NM_000179.3(MSH6):c.3253del (p.Thr1085fs) rs1060502891
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs) rs1553331659
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3401G>T (p.Gly1134Val) rs1376398586
NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)
NM_000179.3(MSH6):c.3414_3416del (p.Gly1139del) rs587781544
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser) rs63751063
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp) rs1316409501
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=) rs876660283
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3431_3438+107del
NM_000179.3(MSH6):c.3438+1G>A rs267608096
NM_000179.3(MSH6):c.3438+1G>C
NM_000179.3(MSH6):c.3438+1G>T
NM_000179.3(MSH6):c.3438+2T>C rs1033749344
NM_000179.3(MSH6):c.3438+2T>G
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3455_3487del (p.Val1152_Ala1162del)
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter) rs1553332166
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg) rs1669872142
NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs) rs1553332297
NM_000179.3(MSH6):c.3554_3556+2del rs2104510085
NM_000179.3(MSH6):c.3556+1G>A rs1060502926
NM_000179.3(MSH6):c.3556+1G>T rs1060502926
NM_000179.3(MSH6):c.3556+1del rs1064793489
NM_000179.3(MSH6):c.3556+2T>G
NM_000179.3(MSH6):c.3556+3_3556+13del rs587779269
NM_000179.3(MSH6):c.3557-1G>A
NM_000179.3(MSH6):c.3557-1G>C rs1114167723
NM_000179.3(MSH6):c.3557-1G>T rs1114167723
NM_000179.3(MSH6):c.3557-2A>G
NM_000179.3(MSH6):c.3557-2A>T rs1558390582
NM_000179.3(MSH6):c.3557-3_3573del rs2104521349
NM_000179.3(MSH6):c.3574del (p.Val1192fs) rs1553332671
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3602T>G (p.Leu1201Arg)
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro) rs1114167688
NM_000179.3(MSH6):c.3631C>T (p.Leu1211Phe) rs2104525825
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
NM_000179.3(MSH6):c.3644_3646+5del
NM_000179.3(MSH6):c.3645_3646+3delinsCGTT
NM_000179.3(MSH6):c.3646+1G>A rs1553332772
NM_000179.3(MSH6):c.3646+1G>C rs1553332772
NM_000179.3(MSH6):c.3646+1G>T rs1553332772
NM_000179.3(MSH6):c.3646+1dup rs1553332768
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3646+2T>G
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3646_3646+3del rs267608106
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3647-1G>C rs587779279
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3647-37_3684del rs2104535143
NM_000179.3(MSH6):c.3647-6_3647-1del rs267608112
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile) rs63750949
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del) rs587779284
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.3(MSH6):c.3724C>G (p.Arg1242Gly) rs587779285
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs) rs1670054668
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs) rs1553333093
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3801+1G>A
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT rs2104547230
NM_000179.3(MSH6):c.3801+1_3801+5del rs1553333175
NM_000179.3(MSH6):c.3801+1del rs1553333185
NM_000179.3(MSH6):c.3801+2T>C rs1558392617
NM_000179.3(MSH6):c.3801+2T>G rs1558392617
NM_000179.3(MSH6):c.3802-14_3809del
NM_000179.3(MSH6):c.3802-15_3802delinsAAGCTAATAGCA
NM_000179.3(MSH6):c.3802-1G>A rs1572746025
NM_000179.3(MSH6):c.3802-1G>C rs1572746025
NM_000179.3(MSH6):c.3802-1G>T
NM_000179.3(MSH6):c.3802-2A>G
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter) rs587779294
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs) rs1553333370
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.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3856_3872dup (p.Lys1291fs)
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs) rs1670123011
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.3(MSH6):c.3922_3953dup (p.Arg1318fs)
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs) rs878853742
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg) rs773675555
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter) rs587782101
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) rs1572747685
NM_000179.3(MSH6):c.3955_3974dup (p.Met1326fs)
NM_000179.3(MSH6):c.3958_3986dup (p.Ser1329_Leu1330insGlnGluAsnLeuArgArgTer)
NM_000179.3(MSH6):c.3961A>T (p.Arg1321Ter) rs41295278
NM_000179.3(MSH6):c.3971_3983dup (p.Ser1329fs)
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.3G>T (p.Met1Ile) rs876660095
NM_000179.3(MSH6):c.4000_4001insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1334delinsLeuTer) rs2104565974
NM_000179.3(MSH6):c.4001+1G>A rs1114167729
NM_000179.3(MSH6):c.4001+1G>C rs1114167729
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001+2dup
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.4001G>T (p.Arg1334Leu)
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000179.3(MSH6):c.4002-2A>G rs878853745
NM_000179.3(MSH6):c.4002-6_4002-1del rs1670205307
NM_000179.3(MSH6):c.457+1G>A
NM_000179.3(MSH6):c.457+1del rs876661125
NM_000179.3(MSH6):c.457+2T>G
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser) rs1060502885
NM_000179.3(MSH6):c.458-1G>A rs267608035
NM_000179.3(MSH6):c.458-1G>T rs267608035
NM_000179.3(MSH6):c.458-2A>C
NM_000179.3(MSH6):c.458-2A>G rs2104227716
NM_000179.3(MSH6):c.517_520del (p.Leu173fs) rs1553411419
NM_000179.3(MSH6):c.55del (p.Asp19fs) rs1553408127
NM_000179.3(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.3(MSH6):c.616_627+37delinsC
NM_000179.3(MSH6):c.619G>T (p.Glu207Ter) rs1322095633
NM_000179.3(MSH6):c.627+1G>A rs1572716545
NM_000179.3(MSH6):c.627+1dup rs2104241415
NM_000179.3(MSH6):c.627+2_627+11del
NM_000179.3(MSH6):c.628-1G>C rs2104287071
NM_000179.3(MSH6):c.628-2A>C
NM_000179.3(MSH6):c.628-2A>T rs1114167725
NM_000179.3(MSH6):c.691del (p.Val231fs)
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
NM_000179.3(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.4(MLH1):c.101A>C (p.Glu34Ala)
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.1033_1038+13del
NM_000249.4(MLH1):c.1038+1G>A rs267607816
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1038+1G>T
NM_000249.4(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1039-1G>C rs267607819
NM_000249.4(MLH1):c.1039-1G>T
NM_000249.4(MLH1):c.1039-2A>C rs267607815
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1039-2A>T rs267607815
NM_000249.4(MLH1):c.103A>G (p.Met35Val) rs876659691
NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)
NM_000249.4(MLH1):c.104T>A (p.Met35Lys) rs63749906
NM_000249.4(MLH1):c.104T>G (p.Met35Arg) rs63749906
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.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr) rs63750580
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs) rs2083404326
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.116+1del
NM_000249.4(MLH1):c.116+3A>G rs1553637475
NM_000249.4(MLH1):c.116+5G>C rs267607710
NM_000249.4(MLH1):c.1168del (p.Glu390fs)
NM_000249.4(MLH1):c.117-1G>A rs587779950
NM_000249.4(MLH1):c.117-1G>C
NM_000249.4(MLH1):c.117-1G>T rs587779950
NM_000249.4(MLH1):c.117-2A>G rs267607712
NM_000249.4(MLH1):c.117-2A>T
NM_000249.4(MLH1):c.117-6T>A rs2081158776
NM_000249.4(MLH1):c.117-7_121del
NM_000249.4(MLH1):c.1211del (p.Leu404fs)
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.4(MLH1):c.121G>A (p.Asp41Asn) rs267607713
NM_000249.4(MLH1):c.121G>T (p.Asp41Tyr)
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.4(MLH1):c.122A>T (p.Asp41Val) rs63751094
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.4(MLH1):c.1322del (p.Ala441fs) rs2125885422
NM_000249.4(MLH1):c.134_136del (p.Thr45del)
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile) rs1575538276
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter) rs756843954
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1409+1_1409+6del rs1057517617
NM_000249.4(MLH1):c.1409+2T>G rs587778911
NM_000249.4(MLH1):c.1410-16_1420del
NM_000249.4(MLH1):c.1410-1G>A
NM_000249.4(MLH1):c.1410-27_1414del rs2125900759
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs) rs1553653084
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs) rs2083718945
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
NM_000249.4(MLH1):c.1550del (p.Gly517fs) rs2125903643
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.1558+1G>T rs267607832
NM_000249.4(MLH1):c.1558+1del
NM_000249.4(MLH1):c.1558+1dup rs1553653237
NM_000249.4(MLH1):c.1558+2T>A rs267607831
NM_000249.4(MLH1):c.1558+2T>C rs267607831
NM_000249.4(MLH1):c.1558+2T>G rs267607831
NM_000249.4(MLH1):c.1559-1G>A rs267607837
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1559-2A>C rs267607836
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.4(MLH1):c.1612del (p.Trp538fs) rs2084643841
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) rs2084645057
NM_000249.4(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro) rs63750289
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.4(MLH1):c.1658_1667+3del rs2125945833
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro) rs587778937
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1667+2T>G
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1668-1G>T rs267607845
NM_000249.4(MLH1):c.1668-3C>A rs267607844
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro) rs63750059
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg) rs63750059
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1715G>T (p.Gly572Val)
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+1G>T rs267607853
NM_000249.4(MLH1):c.1731+2T>G rs267607856
NM_000249.4(MLH1):c.1731+2dup
NM_000249.4(MLH1):c.1731+3A>T rs267607851
NM_000249.4(MLH1):c.1731+5G>A rs267607850
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC rs2125958437
NM_000249.4(MLH1):c.1732-1G>A rs267607854
NM_000249.4(MLH1):c.1732-2A>G 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.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs) rs876660860
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp) rs63750016
NM_000249.4(MLH1):c.1803del (p.Asp601fs) rs2125984944
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp) rs267607864
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
NM_000249.4(MLH1):c.1844T>C (p.Leu615Pro) rs2085311497
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) rs267607866
NM_000249.4(MLH1):c.1858del (p.Glu620fs) rs786203456
NM_000249.4(MLH1):c.1864del (p.Ala623fs) rs1559588540
NM_000249.4(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.4(MLH1):c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.187G>C (p.Asp63His) rs63750850
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1896+1G>A rs267607867
NM_000249.4(MLH1):c.1896+1G>T rs267607867
NM_000249.4(MLH1):c.1896+1del rs267607868
NM_000249.4(MLH1):c.1896+2T>C rs267607869
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro) rs63750825
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala) rs63749792
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.1919C>G (p.Pro640Arg) rs267607875
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.1926dup (p.Ile643fs) rs2085415475
NM_000249.4(MLH1):c.193G>A (p.Gly65Ser) rs2081173076
NM_000249.4(MLH1):c.193G>C (p.Gly65Arg) rs2081173076
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
NM_000249.4(MLH1):c.1942C>G (p.Pro648Ala) rs63750899
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) rs63750610
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.4(MLH1):c.1958T>C (p.Leu653Pro) rs63751202
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg) rs63751202
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1989+1G>A rs267607879
NM_000249.4(MLH1):c.1989+1G>C rs267607879
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+1del
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
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.1989_1989+8del rs1575628928
NM_000249.4(MLH1):c.1990-16_1990-2del rs267607881
NM_000249.4(MLH1):c.1990-1G>T rs267607884
NM_000249.4(MLH1):c.1990-3_2001del rs2085459433
NM_000249.4(MLH1):c.1996T>C (p.Trp666Arg) rs267607887
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.4(MLH1):c.202_207+1del
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn) rs63750281
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.2041del (p.Ala681fs) rs2085472296
NM_000249.4(MLH1):c.2047T>G (p.Phe683Val)
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.207+1G>T rs267607718
NM_000249.4(MLH1):c.207+1_207+2del rs267607719
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.4(MLH1):c.208-1G>C
NM_000249.4(MLH1):c.208-1_208del rs587778973
NM_000249.4(MLH1):c.208-2A>C rs267607716
NM_000249.4(MLH1):c.208-2A>G rs267607716
NM_000249.4(MLH1):c.208-3C>G rs267607720
NM_000249.4(MLH1):c.208-3C>T rs267607720
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.4(MLH1):c.2103+1G>C rs267607888
NM_000249.4(MLH1):c.2103+1G>T rs267607888
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2103G>A (p.Gln701=) rs63750603
NM_000249.4(MLH1):c.2104-1G>A rs587778978
NM_000249.4(MLH1):c.2104-1G>C
NM_000249.4(MLH1):c.2104-1G>T rs587778978
NM_000249.4(MLH1):c.2104-1_2104delinsTCTTATGACATCTAAT rs1553665467
NM_000249.4(MLH1):c.2104-2A>C
NM_000249.4(MLH1):c.2104-2A>G rs267607889
NM_000249.4(MLH1):c.2104-2A>T rs267607889
NM_000249.4(MLH1):c.2104-6_2104-5delinsGG
NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter)
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro) rs397514684
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del) rs1575641243
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs) rs1060500698
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.227T>A (p.Val76Glu) rs1434599441
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.238T>A (p.Phe80Ile)
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.245C>G (p.Thr82Ser) rs63750005
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.250A>C (p.Lys84Gln)
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.4(MLH1):c.252A>C (p.Lys84Asn)
NM_000249.4(MLH1):c.275_278del (p.Ala92fs)
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del) rs63751691
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.301G>C (p.Gly101Arg) rs267607726
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) rs267607727
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306+2T>C
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.307-1G>A
NM_000249.4(MLH1):c.307-1G>C rs267607736
NM_000249.4(MLH1):c.307-2A>C rs267607732
NM_000249.4(MLH1):c.307-2A>G rs267607732
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.4(MLH1):c.331G>A (p.Ala111Thr)
NM_000249.4(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.4(MLH1):c.338T>A (p.Val113Asp) rs63750559
NM_000249.4(MLH1):c.345_349del (p.Thr116fs) rs2081714489
NM_000249.4(MLH1):c.347del (p.Thr116fs) rs876661159
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) rs2080891193
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala) rs977932120
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
NM_000249.4(MLH1):c.372_380+8del
NM_000249.4(MLH1):c.373G>T (p.Ala125Ser)
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu) rs1553641362
NM_000249.4(MLH1):c.380+1G>A rs267607745
NM_000249.4(MLH1):c.380+1G>C rs267607745
NM_000249.4(MLH1):c.380+1G>T rs267607745
NM_000249.4(MLH1):c.380+1del
NM_000249.4(MLH1):c.380+2T>A rs267607742
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile) rs63751595
NM_000249.4(MLH1):c.380_380+1insTAT
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.381-2A>G rs267607743
NM_000249.4(MLH1):c.388T>C (p.Tyr130His) rs587779010
NM_000249.4(MLH1):c.389A>G (p.Tyr130Cys) rs587779011
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.3G>T (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.4(MLH1):c.415_453+520delinsGCTTTCCCC
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu) rs1060500702
NM_000249.4(MLH1):c.441dup (p.Thr148fs) rs2125773395
NM_000249.4(MLH1):c.453+1G>A rs267607750
NM_000249.4(MLH1):c.453+1G>T rs267607750
NM_000249.4(MLH1):c.453+2_453+7delinsGATC rs1575441094
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.454-1G>C rs193922370
NM_000249.4(MLH1):c.454-1G>T rs193922370
NM_000249.4(MLH1):c.454-2A>G rs267607753
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.4(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del) rs786201988
NM_000249.4(MLH1):c.543C>G (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.545+1G>A rs267607765
NM_000249.4(MLH1):c.545+1G>T rs267607765
NM_000249.4(MLH1):c.545+4_545+5del
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys) rs587779021
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.4(MLH1):c.546-1G>A rs587779022
NM_000249.4(MLH1):c.546-2A>T rs267607759
NM_000249.4(MLH1):c.554T>G (p.Val185Gly) rs63750515
NM_000249.4(MLH1):c.574_588+2del rs587779023
NM_000249.4(MLH1):c.577T>C (p.Ser193Pro) rs63751021
NM_000249.4(MLH1):c.581T>G (p.Val194Gly) rs876658962
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.588+2T>A rs587779024
NM_000249.4(MLH1):c.588+5G>T rs267607768
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>C rs267607767
NM_000249.4(MLH1):c.61G>C (p.Ala21Pro) rs2080897397
NM_000249.4(MLH1):c.61G>T (p.Ala21Ser) rs2080897397
NM_000249.4(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.4(MLH1):c.62C>G (p.Ala21Gly)
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.677_677+1insT rs587779033
NM_000249.4(MLH1):c.678-1G>A rs267607784
NM_000249.4(MLH1):c.678-1G>C rs267607784
NM_000249.4(MLH1):c.678-1G>T rs267607784
NM_000249.4(MLH1):c.678-2A>C
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.678-3_678-1del
NM_000249.4(MLH1):c.731G>T (p.Gly244Val) rs63750303
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe) rs63749838
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.782TCA[1] (p.Ile262del) rs587779039
NM_000249.4(MLH1):c.789_790+4del
NM_000249.4(MLH1):c.790+1G>C rs267607789
NM_000249.4(MLH1):c.790+4A>C rs267607786
NM_000249.4(MLH1):c.790+4A>G rs267607786
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.791-3T>G
NM_000249.4(MLH1):c.791-7T>A rs587779042
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly) rs63751194
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.816del (p.Arg273fs) rs2125837110
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.4(MLH1):c.838T>G (p.Tyr280Asp) rs587779044
NM_000249.4(MLH1):c.83C>A (p.Pro28Gln)
NM_000249.4(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.4(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.4(MLH1):c.859_885-855del
NM_000249.4(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) rs63750517
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+1_884+2del
NM_000249.4(MLH1):c.884+2T>C rs267607806
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.884+4A>G rs267607777
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr) rs63750144
NM_000249.4(MLH1):c.885-2A>C rs267607805
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.88_108del (p.Asn30_Ile36del)
NM_000249.4(MLH1):c.910G>T (p.Asp304Tyr) rs1482654951
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.911A>T (p.Asp304Val) rs63750993
NM_000249.4(MLH1):c.916A>G (p.Asn306Asp)
NM_000249.4(MLH1):c.917A>G (p.Asn306Ser) rs755553895
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000249.4(MLH1):c.923A>C (p.His308Pro) rs1559543768
NM_000249.4(MLH1):c.927dup (p.Thr310fs) rs1553647995
NM_000249.4(MLH1):c.92C>A (p.Ala31Asp)
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs) rs1553648047
NM_000249.4(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del) rs2082985381
NM_000249.4(MLH1):c.980_983dup (p.His329fs) rs1559544297
NM_000249.4(MLH1):c.984_997del (p.His329fs) rs587782265
NM_000249.4(MLH1):c.988_990del (p.Ile330del) rs63751197
NM_000249.4(MLH1):c.997_1038+10del
NM_000249.4(MLH1):c.9_21del (p.Phe3fs) rs1064795341
NM_000251.2(MSH2):c.-1444_96del
NM_000251.2(MSH2):c.-78_-77del rs587779182
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1077-?_*279+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup
NM_000251.2(MSH2):c.212-?_366+?dup
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val) rs587779065
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro) rs63751147
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro) rs1673078633
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser) rs267607939
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.1046_1047delinsGC (p.Pro349Arg) rs1558466685
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys) rs753075410
NM_000251.3(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.3(MSH2):c.106_212-1229del
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
NM_000251.3(MSH2):c.1076+1G>T rs267607940
NM_000251.3(MSH2):c.1076+1del
NM_000251.3(MSH2):c.1076+1dup rs1673083690
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile) rs63751604
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1077-1G>T rs267607944
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.1098_1099insTC (p.Val367fs)
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.3(MSH2):c.1186del (p.Arg396fs)
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1272_1276+6del
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+1G>C rs267607950
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276+2T>A rs267607953
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg) rs879254234
NM_000251.3(MSH2):c.1277-14C>G rs267607951
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1277-1G>T rs267607948
NM_000251.3(MSH2):c.1277-2A>C rs267607949
NM_000251.3(MSH2):c.1277-2A>G rs267607949
NM_000251.3(MSH2):c.1277-2A>T rs267607949
NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter) rs63751646
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg) rs587779084
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg) rs1060502025
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1386+2T>G
NM_000251.3(MSH2):c.1387-1G>A rs267607956
NM_000251.3(MSH2):c.1387-1G>T rs267607956
NM_000251.3(MSH2):c.1387-2A>G rs1573547594
NM_000251.3(MSH2):c.1387-2A>T
NM_000251.3(MSH2):c.1387-2del rs2104082025
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter) rs876658223
NM_000251.3(MSH2):c.1393_1420del (p.Asn465fs) rs2104082965
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1416_1510+369del
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
NM_000251.3(MSH2):c.1442_1445dup (p.Arg482fs) rs63750930
NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro) rs587779095
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1510+1G>C
NM_000251.3(MSH2):c.1510+1G>T
NM_000251.3(MSH2):c.1510+2T>A
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000251.3(MSH2):c.1510+2_1510+50del rs1558508399
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1511-2A>C rs267607962
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1527dup (p.Gln510fs)
NM_000251.3(MSH2):c.1529_1531delinsT (p.Gln510fs) rs2104172666
NM_000251.3(MSH2):c.1543del (p.Ser515fs)
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser) rs587782587
NM_000251.3(MSH2):c.1570C>G (p.Arg524Gly)
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter) rs1666904987
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro) rs63750838
NM_000251.3(MSH2):c.1659_1661+2delinsGAGGG
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg) rs63751656
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1661+1del
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1661+5G>A rs267607972
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr) rs63750597
NM_000251.3(MSH2):c.1662-12_1677del rs864622436
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro) rs1667078647
NM_000251.3(MSH2):c.1741del (p.Ile581fs) rs63750141
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1759G>A (p.Gly587Ser) rs63751140
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs) rs1667229261
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg) rs786201590
NM_000251.3(MSH2):c.1799C>T (p.Ala600Val) rs63751236
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.3(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs) rs1573566787
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.3(MSH2):c.1862G>C (p.Arg621Pro) rs759263820
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr) rs63750280
NM_000251.3(MSH2):c.1864C>G (p.Pro622Ala) rs63750280
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln) rs28929483
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg) rs28929483
NM_000251.3(MSH2):c.1906_2005+8del
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.1942dup (p.Ile648fs)
NM_000251.3(MSH2):c.1955C>A (p.Pro652His) rs267607983
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.3(MSH2):c.198del (p.Lys65_Tyr66insTer)
NM_000251.3(MSH2):c.2005+1G>A rs267607986
NM_000251.3(MSH2):c.2005+1G>C rs267607986
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2T>A
NM_000251.3(MSH2):c.2005+2T>C rs267607987
NM_000251.3(MSH2):c.2005+2T>G rs267607987
NM_000251.3(MSH2):c.2005+2_2005+12del rs587779123
NM_000251.3(MSH2):c.2005+2del rs587779124
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.2006-1G>A
NM_000251.3(MSH2):c.2006-1G>C rs267607988
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2006-2A>T rs267607991
NM_000251.3(MSH2):c.2006-4_2006-2delinsCT
NM_000251.3(MSH2):c.2006-6_2006-2delinsCTGTG
NM_000251.3(MSH2):c.2006-7_2022del rs2104367794
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp) rs63751640
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2010dup (p.Asn671fs) rs63751123
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr) rs63751232
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.2020G>A (p.Gly674Ser) rs63750234
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu) rs1057520735
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg) rs876660711
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro) rs1203462814
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro) rs1667302018
NM_000251.3(MSH2):c.2042_2045delinsCAAT (p.Gln681_Thr682delinsProIle)
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg) rs1667303602
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr) rs63749993
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro) rs914610419
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp) rs1060502020
NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)
NM_000251.3(MSH2):c.2073del (p.Ile691fs)
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr) rs1057524909
NM_000251.3(MSH2):c.207_211+42del rs1553348901
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile) rs63751409
NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.2090G>C (p.Cys697Ser) rs63750398
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu) rs876658251
NM_000251.3(MSH2):c.209C>T (p.Ala70Val) rs587782481
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.211+2del
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.212-2A>T rs267607917
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn) rs63750108
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro) rs138465383
NM_000251.3(MSH2):c.2132G>T (p.Arg711Leu) rs138465383
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2181dup (p.Glu728Ter) rs2104378200
NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2210+1G>C rs267608002
NM_000251.3(MSH2):c.2210+2T>A
NM_000251.3(MSH2):c.2210+2T>C rs2104379659
NM_000251.3(MSH2):c.2210G>A (p.Arg737Lys) rs267607997
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2211-2A>C rs267608001
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu) rs63751155
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del) rs587779142
NM_000251.3(MSH2):c.2242G>C (p.Asp748His) rs267608007
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro) rs750646335
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr) rs876658254
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val) rs386833406
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2290dup (p.Trp764fs) rs2104402437
NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)
NM_000251.3(MSH2):c.2304del (p.Glu768fs) rs587783053
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg) rs1558521929
NM_000251.3(MSH2):c.2363_2364del (p.Thr788fs) rs63750937
NM_000251.3(MSH2):c.2363del (p.Thr788fs) rs2104405789
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
NM_000251.3(MSH2):c.2367del (p.Leu790fs) rs1667397201
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
NM_000251.3(MSH2):c.239T>C (p.Leu80Pro)
NM_000251.3(MSH2):c.2402A>C (p.His801Pro) rs1114167875
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2458+1G>C
NM_000251.3(MSH2):c.2458+1G>T rs267608010
NM_000251.3(MSH2):c.2459-11A>G
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2459-1G>C rs1060501991
NM_000251.3(MSH2):c.2459-1G>T
NM_000251.3(MSH2):c.2459-2A>C
NM_000251.3(MSH2):c.2459-2A>G rs267608011
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.3(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs) rs1553370381
NM_000251.3(MSH2):c.2562del (p.Gln855fs) rs1114167836
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+1G>T rs267608019
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2634+5G>T rs267608017
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2635-1G>A rs267608020
NM_000251.3(MSH2):c.2635-1G>C rs267608020
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2635-2A>C rs1114167818
NM_000251.3(MSH2):c.2635-2A>G rs1114167818
NM_000251.3(MSH2):c.2635-2del
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000251.3(MSH2):c.2637del (p.Gly880fs)
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe) rs63751429
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter) rs1573437173
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.366+1G>C
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.367-1G>C rs267607925
NM_000251.3(MSH2):c.367-1_370del
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.3(MSH2):c.430del (p.Ser144fs) rs1672660841
NM_000251.3(MSH2):c.443T>A (p.Val148Glu) rs1553350714
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
NM_000251.3(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.524del (p.Leu175fs)
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.568CTC[1] (p.Leu191del) rs587779165
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr) rs63751136
NM_000251.3(MSH2):c.640_645+1del
NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs) rs2104042264
NM_000251.3(MSH2):c.642_645+3delinsCAAATTG
NM_000251.3(MSH2):c.645+1G>T rs267607689
NM_000251.3(MSH2):c.645+2T>A rs876658996
NM_000251.3(MSH2):c.646-1_648del rs1553351549
NM_000251.3(MSH2):c.646-2A>C rs587779169
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-2A>T rs587779169
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.646-5_655del
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.3(MSH2):c.659_661delinsAAT (p.Gly220_Gly221delinsGluTer)
NM_000251.3(MSH2):c.703_709del (p.Lys235fs) rs2104102733
NM_000251.3(MSH2):c.738del (p.Gly247fs) rs2104106456
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.3(MSH2):c.762_780del (p.Asn254fs) rs2104108772
NM_000251.3(MSH2):c.792+1del rs1064794155
NM_000251.3(MSH2):c.793-1G>C
NM_000251.3(MSH2):c.793-1G>T
NM_000251.3(MSH2):c.793-2A>C rs267607933
NM_000251.3(MSH2):c.793-2A>G rs267607933
NM_000251.3(MSH2):c.793-2A>T
NM_000251.3(MSH2):c.797C>T (p.Ala266Val) rs587781745
NM_000251.3(MSH2):c.802_803insGT (p.Ser268fs)
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro) rs1573451078
NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs) rs1672951706
NM_000251.3(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.3(MSH2):c.928del (p.Asn311fs) rs1064793179
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.942+1del rs1194793421
NM_000251.3(MSH2):c.942+2T>G rs587779195
NM_000251.3(MSH2):c.942+2del rs587779194
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000251.3(MSH2):c.943-1G>A rs12476364
NM_000251.3(MSH2):c.943-1G>C rs12476364
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.943-51_988del
NM_000251.3(MSH2):c.943-8_943del
NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)
NM_000251.3(MSH2):c.98_99del (p.Thr33fs) rs1672240193
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp) rs1553353167
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter) rs750136284
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs) rs1583334346
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile) rs1783517960
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter) rs1437858319
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1144+1G>T rs373885654
NM_000535.7(PMS2):c.1144+1del rs2128746842
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1144+2T>G
NM_000535.7(PMS2):c.1144+5G>C rs1783506726
NM_000535.7(PMS2):c.1144G>C (p.Gly382Arg) rs779512948
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) rs1562633331
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1351del (p.Arg451fs) rs1562634268
NM_000535.7(PMS2):c.1366del (p.Ser456fs) rs1583320992
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs) rs1783098862
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-1G>T
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.1666del (p.Glu556fs)
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1709dup (p.Asn570fs) rs1783004175
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
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.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1911_1912delinsAT (p.Gln638Ter) rs1782941753
NM_000535.7(PMS2):c.1938del (p.Lys647fs) rs2128720948
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+1G>C rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-1_2009del
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA rs1782473185
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2174+1G>C rs267608172
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2275+1G>T rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.2276-1G>C rs2128676082
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.23+2T>G rs2128865814
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.239_250+2del
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) rs2128671557
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro) rs587781636
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro) rs1781502574
NM_000535.7(PMS2):c.250+1G>A
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
NM_000535.7(PMS2):c.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.251-1G>C
NM_000535.7(PMS2):c.251-1G>T rs764171734
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-2A>G rs587779340
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
NM_000535.7(PMS2):c.2529del (p.His845fs)
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter) rs1583269216
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg) rs1781486223
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>A
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.353+2T>G
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.353G>C (p.Ser118Thr)
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-41_514del rs2128815961
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter) rs1785199575
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-1G>A rs988423880
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.538-2A>T
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.564dup (p.His189fs)
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs) rs1784802468
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+1G>C rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.706-1G>A rs1202370194
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000535.7(PMS2):c.706-73_748del
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.790_803+5del
NM_000535.7(PMS2):c.793_803+7del
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.803+1G>A rs1562669585
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+2T>G
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-11A>G
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.804-1G>T
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.860dup (p.Gln288fs) rs2128775362
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-1G>A rs779064342
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.988+1G>C rs757110564
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.989-1G>C
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.9_23+7del rs1562711587
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.6(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.919+1G>T rs1131691039
NM_001040108.2(MLH3):c.2116del (p.Thr706fs) rs797045117
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1435C>G (p.Arg479Gly) rs747241612
NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln) rs866987936
NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro) rs866987936
NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu) rs866987936
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser) rs149680468
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly) rs149680468
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys) rs149680468
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu) rs1057519896
NM_001354629.2(MLH1):c.208-3445_208-3433del rs1057517543
NM_001358291.2(RMI1):c.1284_1288del (p.Lys428fs) rs764792608
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001519.4(BRF1):c.1954G>A (p.Gly652Arg) rs202049411
NM_001626.6(AKT2):c.904A>G (p.Ser302Gly) rs1057519754
NM_001664.4(RHOA):c.13C>T (p.Arg5Trp) rs1057519952
NM_001664.4(RHOA):c.14G>A (p.Arg5Gln) rs1057519953
NM_001664.4(RHOA):c.14G>T (p.Arg5Leu) rs1057519953
NM_001903.5(CTNNA1):c.2213del (p.Asn738fs) rs2150336916
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn) rs121913413
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.1296_1298del (p.Tyr432_Lys433delinsTer) rs2078362331
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.1444C>G (p.Gln482Glu) rs1559474557
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr) rs1057519886
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro) rs1057519886
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala) rs1057519886
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) rs1057519893
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu) rs1057519893
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) rs1057519803
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002354.3(EPCAM):c.859-1G>A rs863224453
NM_002354.3(EPCAM):c.904-1_904del rs2103770769
NM_002354.3(EPCAM):c.904-2A>G rs878854496
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.4(MAP2K1):c.157T>A (p.Phe53Ile) rs1057519728
NM_002755.4(MAP2K1):c.157T>G (p.Phe53Val) rs1057519728
NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu) rs1057519908
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys) rs1057520009
NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala) rs1057520010
NM_003400.4(XPO1):c.1712A>T (p.Glu571Val) rs1057520010
NM_004048.4(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.4(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.4(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.4(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.4(B2M):c.3G>A (p.Met1Ile) rs1057519877
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) rs121913370
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) rs121913377
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) rs398124146
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu) rs1057519884
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) rs1057519862
NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met) rs1057519890
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) rs121913470
NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp) rs121913470
NM_004448.4(ERBB2):c.2329G>A (p.Val777Met) rs121913471
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe) rs1057519816
NM_004655.4(AXIN2):c.1059+5G>C
NM_004655.4(AXIN2):c.1060-2A>G rs2144478938
NM_004655.4(AXIN2):c.1150G>T (p.Glu384Ter)
NM_004655.4(AXIN2):c.1154T>A (p.Leu385Ter)
NM_004655.4(AXIN2):c.1186C>T (p.Gln396Ter)
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2137C>T (p.Gln713Ter) rs2043913790
NM_004655.4(AXIN2):c.2172del (p.Asn725fs)
NM_004655.4(AXIN2):c.666_667del (p.Cys222fs)
NM_004655.4(AXIN2):c.74del (p.Pro25fs)
NM_004655.4(AXIN2):c.816-1G>A
NM_004655.4(AXIN2):c.816-2A>G
NM_004655.4(AXIN2):c.94del (p.Glu32fs)
NM_004655.4(AXIN2):c.973dup (p.Tyr325fs) rs2144500829
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr) rs1057519917
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_005228.5(EGFR):c.1474A>G (p.Ser492Gly) rs1057519760
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg) rs1553488015
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala) rs1057519941
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) rs1057519941
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His) rs1057519939
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr) rs1057519938
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile) rs1057519938
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1035T>G (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser) rs749415085
NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly) rs749415085
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) rs772110575
NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu) rs772110575
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly) rs121913272
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val) rs1057519927
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His) rs1057519940
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala) rs1057519928
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val) rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr) rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.3145G>A (p.Gly1049Ser) rs121913277
NM_006218.4(PIK3CA):c.316G>C (p.Gly106Arg) rs1057519931
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006231.4(POLE):c.1187A>G (p.Glu396Gly) rs2136008663
NM_006231.4(POLE):c.1231G>T (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.856C>T (p.Pro286Ser) rs1057519944
NM_006231.4(POLE):c.857C>A (p.Pro286His) rs1057519943
NM_006231.4(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_007194.4(CHEK2):c.1189del (p.Val397fs)
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_014225.6(PPP2R1A):c.547C>G (p.Arg183Gly) rs1057519946
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs) rs2142271759
NM_024675.4(PALB2):c.892_893del (p.Val298fs) rs2142431841
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_033360.4(KRAS):c.175G>A (p.Ala59Thr) rs121913528
NM_033360.4(KRAS):c.181C>G (p.Gln61Glu) rs121913238
NM_033360.4(KRAS):c.182A>C (p.Gln61Pro) rs121913240
NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) rs121913236
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter) rs780779666
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841
Single allele

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