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
|
|
|