ClinVar Miner

List of variants in gene PMS2 studied for Hereditary nonpolyposis colon cancer

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1137
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HGVS dbSNP
NC_000007.13:g.(?_6013020)_(6013183_?)del
NC_000007.13:g.(?_6013020)_(6022632_?)del
NC_000007.13:g.(?_6013020)_(6022632_?)dup
NC_000007.13:g.(?_6013024)_(6013179_?)del
NC_000007.13:g.(?_6013024)_(6022628_?)del
NC_000007.13:g.(?_6013024)_(6022628_?)dup
NC_000007.13:g.(?_6017209)_(6017398_?)del
NC_000007.13:g.(?_6017209)_(6022632_?)del
NC_000007.13:g.(?_6017213)_(6017394_?)del
NC_000007.13:g.(?_6022445)_(6022632_?)dup
NC_000007.13:g.(?_6026380)_(6027261_?)del
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026380)_(6029596_?)del
NC_000007.13:g.(?_6026380)_(6031698_?)del
NC_000007.13:g.(?_6026380)_(6035274_?)del
NC_000007.13:g.(?_6026380)_(6037064_?)del
NC_000007.13:g.(?_6026380)_(6037064_?)dup
NC_000007.13:g.(?_6026380)_(6038916_?)dup
NC_000007.13:g.(?_6026380)_(6048660_?)del
NC_000007.13:g.(?_6026380)_(6048660_?)dup
NC_000007.13:g.(?_6026384)_(6027257_?)del
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6026384)_(6031694_?)del
NC_000007.13:g.(?_6026384)_(6037060_?)del
NC_000007.13:g.(?_6026384)_(6042273_?)del
NC_000007.13:g.(?_6026384)_(6048656_?)del
NC_000007.13:g.(?_6026384)_(6048656_?)dup
NC_000007.13:g.(?_6029421)_(6029596_?)del
NC_000007.13:g.(?_6029421)_(6031698_?)del
NC_000007.13:g.(?_6031594)_(6031698_?)del
NC_000007.13:g.(?_6031594)_(6042277_?)del
NC_000007.13:g.(?_6031594)_(6048660_?)del
NC_000007.13:g.(?_6031594)_(6048660_?)dup
NC_000007.13:g.(?_6031598)_(6037060_?)del
NC_000007.13:g.(?_6035155)_(6035274_?)del
NC_000007.13:g.(?_6035155)_(6038916_?)del
NC_000007.13:g.(?_6035159)_(6035270_?)del
NC_000007.13:g.(?_6036947)_(6037064_?)del
NC_000007.13:g.(?_6036947)_(6038916_?)del
NC_000007.13:g.(?_6036947)_(6043699_?)del
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6038729)_(6038916_?)del
NC_000007.13:g.(?_6038729)_(6045672_?)del
NC_000007.13:g.(?_6038733)_(6048656_?)del
NC_000007.13:g.(?_6042074)_(6043699_?)del
NC_000007.13:g.(?_6042078)_(6043695_?)del
NC_000007.13:g.(?_6042078)_(6048656_?)dup
NC_000007.13:g.(?_6045513)_(6045672_?)del
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NC_000007.13:g.(?_6045517)_(6045668_?)del
NC_000007.13:g.(?_6048618)_(6048660_?)del
NM_000535.5(PMS2):c.904-10_*10del
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile) rs200513014
NM_000535.7(PMS2):c.1008T>G (p.Val336=) rs1057521429
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg) rs730881912
NM_000535.7(PMS2):c.1011T>C (p.Thr337=) rs1353232685
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1013C>T (p.Pro338Leu) rs1554298804
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1025A>G (p.Gln342Arg) rs1554298797
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1026A>G (p.Gln342=) rs561993366
NM_000535.7(PMS2):c.1027del (p.Ile343fs) rs1562644987
NM_000535.7(PMS2):c.1032G>A (p.Leu344=) rs1554298791
NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe) rs1554298791
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg) rs752268571
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238
NM_000535.7(PMS2):c.1046A>C (p.Lys349Thr) rs1562644757
NM_000535.7(PMS2):c.1051T>C (p.Leu351=) rs1554298759
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser) rs1060503134
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323
NM_000535.7(PMS2):c.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.1060G>A (p.Val354Ile)
NM_000535.7(PMS2):c.1060G>T (p.Val354Phe)
NM_000535.7(PMS2):c.1068del (p.Thr357fs) rs1554298741
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly) rs587781918
NM_000535.7(PMS2):c.1070C>A (p.Thr357Asn)
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile) rs980612510
NM_000535.7(PMS2):c.1072T>G (p.Ser358Ala)
NM_000535.7(PMS2):c.1073C>G (p.Ser358Cys)
NM_000535.7(PMS2):c.1073C>T (p.Ser358Phe)
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val) rs730881910
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.107G>A (p.Ser36Asn) rs876661105
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1082G>C (p.Gly361Ala)
NM_000535.7(PMS2):c.108C>A (p.Ser36Arg)
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu) rs370066853
NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr)
NM_000535.7(PMS2):c.1095T>C (p.Ser365=) rs763278132
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445
NM_000535.7(PMS2):c.1104C>T (p.Asn368=) rs1554298686
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1113T>G (p.Asn371Lys) rs989130272
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile) rs1554298669
NM_000535.7(PMS2):c.1115_1118TCAG[1] (p.Gln374fs)
NM_000535.7(PMS2):c.1116C>T (p.Val372=) rs876659729
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911
NM_000535.7(PMS2):c.1128A>C (p.Pro376=) rs367774545
NM_000535.7(PMS2):c.1129C>G (p.Leu377Val)
NM_000535.7(PMS2):c.112G>T (p.Ala38Ser) rs1554306427
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1144+3A>T rs1430015665
NM_000535.7(PMS2):c.1144G>A (p.Gly382Ser)
NM_000535.7(PMS2):c.1145-10G>A rs533551639
NM_000535.7(PMS2):c.1145-7T>G rs1554298099
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp) rs876661243
NM_000535.7(PMS2):c.1147A>G (p.Asn383Asp)
NM_000535.7(PMS2):c.1148A>G (p.Asn383Ser) rs1562637184
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu) rs876658440
NM_000535.7(PMS2):c.1164T>A (p.His388Gln) rs768480216
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)
NM_000535.7(PMS2):c.1166C>T (p.Ala389Val) rs1554298076
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792
NM_000535.7(PMS2):c.1168G>T (p.Ala390Ser)
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.7(PMS2):c.1172A>C (p.Asp391Ala)
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)
NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg)
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1183C>T (p.Pro395Ser)
NM_000535.7(PMS2):c.1186A>G (p.Met396Val) rs863224675
NM_000535.7(PMS2):c.1188G>C (p.Met396Ile) rs1170825702
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile) rs573123885
NM_000535.7(PMS2):c.118A>G (p.Lys40Glu) rs786202542
NM_000535.7(PMS2):c.1192G>C (p.Glu398Gln) rs1171400724
NM_000535.7(PMS2):c.1196A>G (p.Lys399Arg)
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.7(PMS2):c.1199A>G (p.Gln400Arg)
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn) rs1284362486
NM_000535.7(PMS2):c.1201G>C (p.Asp401His) rs1284362486
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys) rs587782789
NM_000535.7(PMS2):c.1204C>G (p.Gln402Glu) rs587782789
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1209C>G (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu) rs1554298036
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys) rs1358586679
NM_000535.7(PMS2):c.1231G>A (p.Glu411Lys)
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu) rs786202871
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala) rs587782832
NM_000535.7(PMS2):c.1232A>G (p.Glu411Gly)
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1237_1239delinsGGG (p.Lys413Gly) rs1562635824
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter) rs1562635799
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys) rs1554297981
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu) rs1060503132
NM_000535.7(PMS2):c.1249A>G (p.Ile417Val)
NM_000535.7(PMS2):c.1250T>C (p.Ile417Thr)
NM_000535.7(PMS2):c.1252T>G (p.Ser418Ala) rs1473720483
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly) rs1554297975
NM_000535.7(PMS2):c.125_127TAG[1] (p.Val43del) rs1064794820
NM_000535.7(PMS2):c.1260G>A (p.Leu420=) rs1554297974
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175
NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter) rs587782175
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1267G>T (p.Ala423Ser)
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1278T>G (p.Leu426=) rs1554297963
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065
NM_000535.7(PMS2):c.1282C>T (p.His428Tyr) rs1554297948
NM_000535.7(PMS2):c.1283A>G (p.His428Arg)
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.1295A>G (p.Asn432Ser)
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427
NM_000535.7(PMS2):c.1301C>T (p.Pro434Leu) rs1554297919
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
NM_000535.7(PMS2):c.1307G>A (p.Ser436Asn) rs876658441
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484
NM_000535.7(PMS2):c.1313dup (p.Thr439fs) rs1562634737
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile)
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly) rs1222691058
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1334G>A (p.Ser445Asn) rs1554297872
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1345C>G (p.Gln449Glu) rs876661256
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1355G>T (p.Gly452Val) rs1490598044
NM_000535.7(PMS2):c.1357A>G (p.Met453Val) rs587780722
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723
NM_000535.7(PMS2):c.136A>G (p.Ser46Gly) rs1554306350
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro) rs779306532
NM_000535.7(PMS2):c.1372A>G (p.Thr458Ala) rs779306532
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val) rs1060503133
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val) rs200116037
NM_000535.7(PMS2):c.1385T>A (p.Ile462Asn) rs1562633639
NM_000535.7(PMS2):c.1386C>G (p.Ile462Met)
NM_000535.7(PMS2):c.1386C>T (p.Ile462=) rs750448069
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn) rs1394213772
NM_000535.7(PMS2):c.1391A>T (p.Asp464Val)
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp)
NM_000535.7(PMS2):c.1398C>G (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944
NM_000535.7(PMS2):c.1402C>G (p.Leu468Val) rs759306219
NM_000535.7(PMS2):c.1402C>T (p.Leu468=) rs759306219
NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys) rs786203427
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291
NM_000535.7(PMS2):c.1422A>C (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.1422A>G (p.Ala474=)
NM_000535.7(PMS2):c.1423G>T (p.Val475Leu) rs864622579
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
NM_000535.7(PMS2):c.1427G>C (p.Ser476Thr)
NM_000535.7(PMS2):c.1429T>A (p.Ser477Thr) rs1554297760
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
NM_000535.7(PMS2):c.142del (p.Asp48fs) rs1064794173
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr) rs876661291
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038
NM_000535.7(PMS2):c.1433G>C (p.Ser478Thr)
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.7(PMS2):c.1435C>T (p.His479Tyr)
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala) rs373917897
NM_000535.7(PMS2):c.1442C>A (p.Pro481His)
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly) rs786203510
NM_000535.7(PMS2):c.1450C>A (p.Pro484Thr) rs752122569
NM_000535.7(PMS2):c.1451C>G (p.Pro484Arg)
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1455G>A (p.Thr485=) rs752665758
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly) rs899935666
NM_000535.7(PMS2):c.1458C>T (p.Asp486=) rs1554297734
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1467G>C (p.Glu489Asp)
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn) rs148642064
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala) rs587782500
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter)
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala) rs1064793846
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser) rs749826312
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.1494C>T (p.Ser498=) rs770181766
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala) rs1060503117
NM_000535.7(PMS2):c.1499C>G (p.Ser500Cys) rs375905814
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1507T>C (p.Ser503Pro) rs864622497
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr) rs777920014
NM_000535.7(PMS2):c.1508C>T (p.Ser503Phe) rs777920014
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp) rs1554297662
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly) rs63751028
NM_000535.7(PMS2):c.152C>A (p.Ala51Asp)
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1532del (p.Thr511fs) rs1554297636
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1533G>C (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp) rs1450081432
NM_000535.7(PMS2):c.1537A>G (p.Ser513Gly)
NM_000535.7(PMS2):c.1538G>C (p.Ser513Thr) rs1562631126
NM_000535.7(PMS2):c.1539T>C (p.Ser513=) rs786202950
NM_000535.7(PMS2):c.1540C>A (p.His514Asn) rs878854036
NM_000535.7(PMS2):c.1542C>T (p.His514=) rs763694602
NM_000535.7(PMS2):c.1546A>G (p.Ser516Gly) rs1554297592
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg) rs587782479
NM_000535.7(PMS2):c.1551C>T (p.Ser517=) rs587782479
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.7(PMS2):c.1558G>A (p.Ala520Thr) rs1554297573
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1559del (p.Ala520fs) rs1554297564
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1561G>A (p.Ala521Thr) rs1164227556
NM_000535.7(PMS2):c.1564A>T (p.Ser522Cys) rs1554297553
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys)
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1572A>G (p.Pro524=) rs1488622375
NM_000535.7(PMS2):c.1573G>A (p.Gly525Arg) rs1265449448
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1576G>C (p.Asp526His) rs63750686
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1578C>T (p.Asp526=) rs63750236
NM_000535.7(PMS2):c.1579A>G (p.Arg527Gly)
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1579del (p.Arg527fs) rs1554297523
NM_000535.7(PMS2):c.157A>G (p.Asn53Asp) rs1554306309
NM_000535.7(PMS2):c.157A>T (p.Asn53Tyr) rs1554306309
NM_000535.7(PMS2):c.1584C>T (p.Gly528=) rs1554297515
NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu) rs876658794
NM_000535.7(PMS2):c.1587G>T (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1595A>G (p.His532Arg) rs1554297505
NM_000535.7(PMS2):c.1598T>C (p.Val533Ala) rs1365849986
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val) rs138222146
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1619C>G (p.Pro540Arg) rs1562629708
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.1628A>G (p.Asp543Gly) rs1060503146
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.163+4A>G rs864622749
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu) rs786203439
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1639T>C (p.Ser547Pro) rs1554297423
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn) rs374591423
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala) rs779150753
NM_000535.7(PMS2):c.1646T>G (p.Val549Gly) rs779150753
NM_000535.7(PMS2):c.1647G>A (p.Val549=) rs1554297410
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.1664A>T (p.Gln555Leu)
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln) rs786202656
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1670A>T (p.Asp557Val) rs1562629043
NM_000535.7(PMS2):c.1672del (p.Thr558fs) rs1562629003
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile) rs114037612
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134
NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg) rs751153838
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1680T>C (p.Cys560=) rs752143026
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr) rs876658481
NM_000535.7(PMS2):c.1684T>C (p.Phe562Leu)
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1686T>G (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1687C>A (p.Arg563=) rs587778618
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1703C>T (p.Pro568Leu) rs869312801
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala) rs762151417
NM_000535.7(PMS2):c.1708A>C (p.Asn570His)
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.170A>C (p.Lys57Thr) rs765474498
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1713C>T (p.Leu571=) rs745774944
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser) rs63751023
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn) rs876660076
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala) rs758018736
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484
NM_000535.7(PMS2):c.1724A>G (p.Asn575Ser) rs1424781748
NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu) rs754339271
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1733G>T (p.Arg578Leu) rs63750770
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1742A>T (p.Lys581Ile) rs1554297289
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1746del (p.Glu583fs) rs1554297285
NM_000535.7(PMS2):c.1748A>T (p.Glu583Val) rs1562627848
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
NM_000535.7(PMS2):c.1772G>C (p.Cys591Ser)
NM_000535.7(PMS2):c.1776A>G (p.Gln592=)
NM_000535.7(PMS2):c.1777A>C (p.Lys593Gln)
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp)
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176
NM_000535.7(PMS2):c.178G>T (p.Asp60Tyr) rs587782176
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly) rs878854039
NM_000535.7(PMS2):c.1798A>T (p.Met600Leu) rs1304634005
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys)
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys) rs773109986
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1833T>G (p.Ile611Met) rs1554297188
NM_000535.7(PMS2):c.1833_1835TAA[1] (p.Asn612del)
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln) rs63751230
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg) rs771892867
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala) rs1060503112
NM_000535.7(PMS2):c.1847T>C (p.Val616Ala)
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser) rs864622096
NM_000535.7(PMS2):c.184G>A (p.Gly62Arg)
NM_000535.7(PMS2):c.1851C>T (p.Pro617=) rs1554297171
NM_000535.7(PMS2):c.1853T>C (p.Leu618Pro)
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr) rs1179605136
NM_000535.7(PMS2):c.1862C>G (p.Ser621Cys)
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512
NM_000535.7(PMS2):c.1864A>T (p.Met622Leu) rs370853512
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1870T>G (p.Ser624Ala) rs63750980
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1876G>A (p.Ala626Thr)
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs) rs1562626204
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr)
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
NM_000535.7(PMS2):c.1901A>G (p.His634Arg) rs767904893
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val) rs1554297114
NM_000535.7(PMS2):c.1926A>G (p.Glu642=) rs765262682
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.1929G>T (p.Gln643His) rs786203379
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys) rs786203075
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.193C>A (p.Leu65Ile) rs1562695468
NM_000535.7(PMS2):c.1940A>G (p.Lys647Arg) rs1554297100
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.1953G>T (p.Lys651Asn) rs1488971334
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe) rs748927376
NM_000535.7(PMS2):c.1959T>A (p.Cys653Ter) rs1554297082
NM_000535.7(PMS2):c.1961C>T (p.Pro654Leu)
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg) rs1064793236
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080
NM_000535.7(PMS2):c.1995A>G (p.Arg665=) rs781780543
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045
NM_000535.7(PMS2):c.1999G>C (p.Glu667Gln)
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2005A>C (p.Ser669Arg) rs1554297049
NM_000535.7(PMS2):c.2005A>T (p.Ser669Cys) rs1554297049
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+1G>C rs1554297040
NM_000535.7(PMS2):c.2006+3A>G rs1064793866
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-2A>C rs587782336
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2007-9T>G rs1194759833
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2016del (p.Met672fs) rs1554295967
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)
NM_000535.7(PMS2):c.2026A>G (p.Met676Val) rs1554295955
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.7(PMS2):c.2037T>G (p.Ile679Met)
NM_000535.7(PMS2):c.203_208del (p.Val68_Ser69del) rs864622506
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg)
NM_000535.7(PMS2):c.2054G>A (p.Gly685Glu) rs1554295923
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.7(PMS2):c.2062A>T (p.Ile688Leu) rs1060503144
NM_000535.7(PMS2):c.2063T>C (p.Ile688Thr)
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu) rs1313824270
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr)
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp) rs587780048
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2102A>C (p.His701Pro)
NM_000535.7(PMS2):c.2103T>C (p.His701=) rs1554295826
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp) rs1562615196
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs) rs1562614946
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) rs1057524433
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr) rs747494931
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala) rs772637411
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe) rs139765160
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro)
NM_000535.7(PMS2):c.2154C>T (p.Leu718=) rs749554813
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.215G>T (p.Gly72Val)
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly)
NM_000535.7(PMS2):c.2167C>T (p.Leu723Phe) rs1456057054
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met) rs1562614497
NM_000535.7(PMS2):c.2173G>A (p.Ala725Thr) rs1303835934
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2174+3G>C rs1400193171
NM_000535.7(PMS2):c.2174+6T>C rs587780050
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2175-11_2175-8del
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2175A>T (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu) rs786202202
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val) rs1554294503
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr) rs1326865470
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2193_2217delinsT (p.Leu731_Leu739delinsPhe)
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala) rs1060503115
NM_000535.7(PMS2):c.2207A>T (p.Glu736Val) rs1060503115
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2213T>C (p.Val738Ala)
NM_000535.7(PMS2):c.2217G>A (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2228T>C (p.Leu743Pro)
NM_000535.7(PMS2):c.2233A>C (p.Ile745Leu) rs1562605133
NM_000535.7(PMS2):c.2235A>G (p.Ile745Met) rs1554294453
NM_000535.7(PMS2):c.223G>A (p.Val75Ile) rs1554304971
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330
NM_000535.7(PMS2):c.2268T>A (p.Asp756Glu) rs1060503119
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln) rs371682056
NM_000535.7(PMS2):c.226_228GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2270A>C (p.Glu757Ala) rs1554294402
NM_000535.7(PMS2):c.2275+1G>C
NM_000535.7(PMS2):c.2275+1G>T rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.2275+5G>C
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.2281G>C (p.Val761Leu) rs201914670
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052
NM_000535.7(PMS2):c.2291G>A (p.Arg764Lys)
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.23+4A>C
NM_000535.7(PMS2):c.23+6C>A rs779104357
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.23+9G>A rs1046717239
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly) rs587781489
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer) rs1554293959
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile) rs876660374
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053
NM_000535.7(PMS2):c.2336G>C (p.Gly779Ala) rs1562601675
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr) rs1064796041
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.7(PMS2):c.2343G>A (p.Gln781=) rs786202531
NM_000535.7(PMS2):c.2345A>T (p.Asp782Val) rs745500014
NM_000535.7(PMS2):c.2345_2347del (p.Asp782del) rs1554293941
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2357_2445+510del rs1562598658
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) rs191300933
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn) rs587781265
NM_000535.7(PMS2):c.2378G>A (p.Ser793Asn)
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala)
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu) rs786203838
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800
NM_000535.7(PMS2):c.2389A>G (p.Met797Val) rs1433888137
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2390T>A (p.Met797Lys)
NM_000535.7(PMS2):c.2390T>C (p.Met797Thr) rs267608152
NM_000535.7(PMS2):c.2391G>A (p.Met797Ile) rs1554293841
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu) rs200629542
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys) rs1064795697
NM_000535.7(PMS2):c.23G>A (p.Ser8Asn) rs1352544158
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-4C>G rs2345056
NM_000535.7(PMS2):c.24-6C>A rs1465940485
NM_000535.7(PMS2):c.24-6C>G rs1465940485
NM_000535.7(PMS2):c.2404C>A (p.Arg802=) rs63751466
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg) rs967502389
NM_000535.7(PMS2):c.2415G>A (p.Gln805=) rs780866508
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu) rs1554293792
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919
NM_000535.7(PMS2):c.241G>C (p.Glu81Gln) rs730881919
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2430A>T (p.Arg810Ser)
NM_000535.7(PMS2):c.2435G>A (p.Cys812Tyr) rs876661116
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly) rs375968016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln) rs587782665
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2445+3A>T rs765667554
NM_000535.7(PMS2):c.2445+5G>C
NM_000535.7(PMS2):c.2445+9del rs1064793472
NM_000535.7(PMS2):c.2447T>G (p.Val816Gly)
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682
NM_000535.7(PMS2):c.2453T>C (p.Ile818Thr) rs786202876
NM_000535.7(PMS2):c.2457G>T (p.Gly819=) rs786203315
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2471C>G (p.Thr824Arg) rs1354323014
NM_000535.7(PMS2):c.2474G>A (p.Ser825Asn) rs1562594318
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828
NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp) rs1562594255
NM_000535.7(PMS2):c.2483A>G (p.Lys828Arg)
NM_000535.7(PMS2):c.2484G>T (p.Lys828Asn)
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083
NM_000535.7(PMS2):c.2497C>G (p.His833Asp) rs777470381
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr)
NM_000535.7(PMS2):c.24T>C (p.Ser8=) rs1554306620
NM_000535.7(PMS2):c.250+5G>A rs1458809226
NM_000535.7(PMS2):c.250+6T>G
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu) rs1454373685
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-1G>T
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2513A>G (p.Asp838Gly) rs1029895711
NM_000535.7(PMS2):c.2516A>G (p.His839Arg) rs1562593924
NM_000535.7(PMS2):c.2518C>T (p.Pro840Ser) rs1562593877
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg) rs1554292753
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.253C>G (p.Leu85Val) rs1554304801
NM_000535.7(PMS2):c.2540G>C (p.Arg847Thr)
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr) rs754350493
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474
NM_000535.7(PMS2):c.2560G>T (p.Ala854Ser)
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342
NM_000535.7(PMS2):c.2570G>T (p.Gly857Val) rs1802683
NM_000535.7(PMS2):c.2579C>G (p.Ser860Cys)
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly) rs1060503124
NM_000535.7(PMS2):c.2588G>T (p.Ter863Leu) rs1554292688
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.7(PMS2):c.267A>G (p.Thr89=) rs876659181
NM_000535.7(PMS2):c.269C>A (p.Ser90Tyr) rs770678468
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile) rs1210073386
NM_000535.7(PMS2):c.275T>G (p.Ile92Ser) rs1554304738
NM_000535.7(PMS2):c.279A>G (p.Gln93=) rs1554304728
NM_000535.7(PMS2):c.280G>A (p.Glu94Lys)
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn) rs1395998044
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile) rs786202835
NM_000535.7(PMS2):c.298C>G (p.Gln100Glu) rs1554304696
NM_000535.7(PMS2):c.299A>C (p.Gln100Pro) rs747771951
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.300G>A (p.Gln100=)
NM_000535.7(PMS2):c.300G>C (p.Gln100His) rs1064794102
NM_000535.7(PMS2):c.308C>T (p.Thr103Ile) rs1562693788
NM_000535.7(PMS2):c.310T>C (p.Phe104Leu) rs1554304677
NM_000535.7(PMS2):c.313G>C (p.Gly105Arg) rs1554304666
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp) rs876659413
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala) rs1554306608
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284
NM_000535.7(PMS2):c.320G>T (p.Arg107Leu)
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg) rs750866397
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.327A>G (p.Glu109=) rs1554304637
NM_000535.7(PMS2):c.328G>A (p.Ala110Thr)
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.339A>T (p.Ser113=) rs951573893
NM_000535.7(PMS2):c.33T>C (p.Pro11=) rs780178572
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr) rs751799116
NM_000535.7(PMS2):c.347C>T (p.Ala116Val) rs1554304601
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.348A>G (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.349C>A (p.Leu117Met) rs1554304592
NM_000535.7(PMS2):c.34G>A (p.Ala12Thr) rs1481967985
NM_000535.7(PMS2):c.353+10T>C rs1554304568
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353+7C>A rs1057520512
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.354-7C>A rs758471869
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.359T>C (p.Val120Ala) rs1060503139
NM_000535.7(PMS2):c.35C>T (p.Ala12Val) rs1562702377
NM_000535.7(PMS2):c.360C>T (p.Val120=) rs767313783
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894
NM_000535.7(PMS2):c.364A>G (p.Ile122Val)
NM_000535.7(PMS2):c.364A>T (p.Ile122Phe)
NM_000535.7(PMS2):c.368C>G (p.Ser123Cys) rs1562690595
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala) rs1554304105
NM_000535.7(PMS2):c.371C>T (p.Thr124Ile) rs1034709810
NM_000535.7(PMS2):c.376C>G (p.His126Asp)
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.396A>C (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.396A>G (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.398C>A (p.Thr133Asn) rs1064794097
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile) rs1064794097
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln) rs771300829
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423
NM_000535.7(PMS2):c.407T>C (p.Met136Thr) rs1554304050
NM_000535.7(PMS2):c.408G>A (p.Met136Ile) rs1064794077
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser) rs876661039
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678
NM_000535.7(PMS2):c.415C>T (p.His139Tyr) rs1554304032
NM_000535.7(PMS2):c.419A>G (p.Asn140Ser) rs876661103
NM_000535.7(PMS2):c.41C>G (p.Ala14Gly) rs750524554
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673
NM_000535.7(PMS2):c.430A>G (p.Ile144Val) rs876659055
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) rs786204133
NM_000535.7(PMS2):c.438A>T (p.Lys146Asn) rs1396558771
NM_000535.7(PMS2):c.442C>T (p.Pro148Ser) rs1554304009
NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn) rs890029950
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.448C>G (p.Pro150Ala) rs1060503120
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu) rs778119115
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870
NM_000535.7(PMS2):c.466A>C (p.Thr156Pro) rs786204206
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile) rs1554303953
NM_000535.7(PMS2):c.469G>A (p.Val157Ile) rs1554303946
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu) rs777845808
NM_000535.7(PMS2):c.472A>T (p.Ser158Cys) rs1554303942
NM_000535.7(PMS2):c.473G>A (p.Ser158Asn) rs750354871
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile) rs750354871
NM_000535.7(PMS2):c.474C>T (p.Ser158=) rs767414243
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg) rs1554303922
NM_000535.7(PMS2):c.47A>G (p.Lys16Arg) rs1554306581
NM_000535.7(PMS2):c.480G>T (p.Gln160His) rs1426242773
NM_000535.7(PMS2):c.484T>A (p.Leu162Ile) rs1554303909
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541
NM_000535.7(PMS2):c.495A>G (p.Thr165=) rs1057520513
NM_000535.7(PMS2):c.496C>T (p.Leu166=) rs876659249
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.4G>C (p.Glu2Gln) rs1554309080
NM_000535.7(PMS2):c.500C>G (p.Pro167Arg) rs1554303894
NM_000535.7(PMS2):c.501T>C (p.Pro167=) rs1554303891
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys) rs730881916
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.508C>A (p.His170Asn) rs876661152
NM_000535.7(PMS2):c.509A>G (p.His170Arg)
NM_000535.7(PMS2):c.513G>A (p.Lys171=) rs1280423254
NM_000535.7(PMS2):c.525G>T (p.Arg175Ser) rs1554303870
NM_000535.7(PMS2):c.526A>G (p.Asn176Asp)
NM_000535.7(PMS2):c.529A>G (p.Ile177Val) rs1377323953
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.537+5A>G rs1562688519
NM_000535.7(PMS2):c.537+6G>A rs1358613918
NM_000535.7(PMS2):c.537+9A>G rs759013264
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.541T>C (p.Tyr181His) rs863224680
NM_000535.7(PMS2):c.542A>G (p.Tyr181Cys)
NM_000535.7(PMS2):c.551T>C (p.Met184Thr)
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.558G>C (p.Gln186His)
NM_000535.7(PMS2):c.55G>C (p.Asp19His) rs1554306568
NM_000535.7(PMS2):c.565C>A (p.His189Asn)
NM_000535.7(PMS2):c.566A>G (p.His189Arg) rs876660330
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.574T>G (p.Cys192Gly) rs773752935
NM_000535.7(PMS2):c.576T>C (p.Cys192=) rs1554302497
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
NM_000535.7(PMS2):c.582T>G (p.Ile194Met) rs1554302490
NM_000535.7(PMS2):c.587C>T (p.Ala196Val) rs1554302485
NM_000535.7(PMS2):c.58C>G (p.Arg20Gly) rs573374779
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779
NM_000535.7(PMS2):c.591C>T (p.Gly197=) rs748518694
NM_000535.7(PMS2):c.592A>G (p.Ile198Val)
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.596G>A (p.Arg199His) rs876658387
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly) rs876658233
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.610A>C (p.Asn204His) rs746910555
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.615G>T (p.Gln205His) rs752499497
NM_000535.7(PMS2):c.618T>C (p.Leu206=) rs1554302439
NM_000535.7(PMS2):c.619G>A (p.Gly207Arg) rs368847322
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.629A>C (p.Lys210Thr) rs753562256
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu) rs587781934
NM_000535.7(PMS2):c.633A>T (p.Arg211=) rs1562678272
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.635A>C (p.Gln212Pro)
NM_000535.7(PMS2):c.639T>C (p.Pro213=) rs1210294498
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.644T>C (p.Val215Ala) rs1554302383
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908
NM_000535.7(PMS2):c.648C>A (p.Cys216Ter)
NM_000535.7(PMS2):c.648C>G (p.Cys216Trp)
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg) rs878854055
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
NM_000535.7(PMS2):c.663C>T (p.Pro221=) rs878854057
NM_000535.7(PMS2):c.665G>T (p.Ser222Ile) rs560462942
NM_000535.7(PMS2):c.667A>G (p.Ile223Val) rs876660067
NM_000535.7(PMS2):c.673G>C (p.Glu225Gln) rs1562677770
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser) rs778534735
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.683G>T (p.Gly228Val) rs1554302319
NM_000535.7(PMS2):c.684_685CT[1] (p.Ser229fs) rs746766787
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.688_689GT[1] (p.Phe231fs) rs1064795447
NM_000535.7(PMS2):c.689T>A (p.Val230Glu)
NM_000535.7(PMS2):c.690G>T (p.Val230=) rs749871098
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.700A>G (p.Lys234Glu) rs1554302295
NM_000535.7(PMS2):c.705+10G>A rs770203880
NM_000535.7(PMS2):c.705+1G>C
NM_000535.7(PMS2):c.705+3A>G rs764334813
NM_000535.7(PMS2):c.706-10T>C rs1554301593
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-3C>A rs1229860023
NM_000535.7(PMS2):c.706-3C>T rs1229860023
NM_000535.7(PMS2):c.706-4T>C rs769605987
NM_000535.7(PMS2):c.706-5T>C rs1203452929
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000535.7(PMS2):c.706-7T>G rs1459714978
NM_000535.7(PMS2):c.706-7_706-6insG rs570998668
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.716T>G (p.Leu239Arg) rs1060503136
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
NM_000535.7(PMS2):c.718A>T (p.Ile240Phe)
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015
NM_000535.7(PMS2):c.722C>G (p.Pro241Arg) rs1554301523
NM_000535.7(PMS2):c.723T>A (p.Pro241=) rs1554301521
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.738C>T (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.739C>G (p.Pro247Ala)
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.748_749del (p.Ser250fs) rs1554301486
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011
NM_000535.7(PMS2):c.751G>C (p.Val251Leu) rs142434011
NM_000535.7(PMS2):c.753G>A (p.Val251=) rs762836049
NM_000535.7(PMS2):c.753G>T (p.Val251=) rs762836049
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala) rs876661002
NM_000535.7(PMS2):c.759_764del (p.Glu253_Tyr255delinsAsp) rs1562670309
NM_000535.7(PMS2):c.763T>A (p.Tyr255Asn) rs1554301471
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.766G>C (p.Gly256Arg)
NM_000535.7(PMS2):c.770T>C (p.Leu257Ser) rs1554301463
NM_000535.7(PMS2):c.779C>A (p.Ser260Tyr) rs777286241
NM_000535.7(PMS2):c.779C>G (p.Ser260Cys) rs777286241
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.780C>T (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.781G>A (p.Asp261Asn) rs1060503150
NM_000535.7(PMS2):c.782A>G (p.Asp261Gly) rs1562669887
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr) rs779625900
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu) rs876661158
NM_000535.7(PMS2):c.801T>G (p.Phe267Leu) rs1554301382
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+4A>G rs756312205
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-3T>C rs1562664868
NM_000535.7(PMS2):c.804-8T>C rs1562664890
NM_000535.7(PMS2):c.805A>G (p.Ile269Val) rs1554300825
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047
NM_000535.7(PMS2):c.811G>A (p.Gly271Ser)
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp)
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg) rs546966892
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.826T>C (p.Cys276Arg) rs1407229027
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr) rs1554300806
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) rs757324104
NM_000535.7(PMS2):c.828C>T (p.Cys276=) rs757324104
NM_000535.7(PMS2):c.82T>C (p.Ser28Pro) rs587781908
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000535.7(PMS2):c.836G>T (p.Gly279Val) rs587782668
NM_000535.7(PMS2):c.846_848del (p.Arg282del) rs776688670
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg) rs1277038817
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.853_856ACAG[1] (p.Asp286fs) rs267608154
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.854C>A (p.Thr285Lys)
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.864G>T (p.Gln288His)
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu) rs771787834
NM_000535.7(PMS2):c.865T>G (p.Phe289Val) rs771787834
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe) rs587781281
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.7(PMS2):c.878A>G (p.Asn293Ser) rs1274671450
NM_000535.7(PMS2):c.879C>T (p.Asn293=) rs1208421007
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp) rs563433235
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln) rs369763423
NM_000535.7(PMS2):c.885G>A (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.885G>T (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.886C>G (p.Pro296Ala)
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553
NM_000535.7(PMS2):c.887C>T (p.Pro296Leu) rs1562663523
NM_000535.7(PMS2):c.889T>G (p.Cys297Gly) rs1562663507
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys) rs141577476
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.890G>A (p.Cys297Tyr) rs869312802
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) rs1562663421
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu) rs757409701
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.903+3A>G rs1562663258
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.903+4T>C rs753803330
NM_000535.7(PMS2):c.903+8A>T rs1554300686
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629
NM_000535.7(PMS2):c.908G>A (p.Cys303Tyr)
NM_000535.7(PMS2):c.909C>T (p.Cys303=) rs1199497563
NM_000535.7(PMS2):c.910A>G (p.Arg304Gly)
NM_000535.7(PMS2):c.911G>A (p.Arg304Lys) rs1562652035
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143
NM_000535.7(PMS2):c.914T>G (p.Leu305Arg)
NM_000535.7(PMS2):c.915C>T (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.91G>A (p.Val31Met)
NM_000535.7(PMS2):c.91G>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.920A>G (p.Asn307Ser)
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys) rs372172981
NM_000535.7(PMS2):c.930C>T (p.Tyr310=) rs1405625567
NM_000535.7(PMS2):c.932A>G (p.His311Arg) rs1562651786
NM_000535.7(PMS2):c.934A>G (p.Met312Val) rs786202567
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.938A>C (p.Tyr313Ser) rs587782513
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.945_946AC[1] (p.His316fs) rs878854060
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.94G>T (p.Val32Leu) rs977251189
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser) rs1248142939
NM_000535.7(PMS2):c.956C>G (p.Pro319Arg) rs1562651380
NM_000535.7(PMS2):c.959T>C (p.Phe320Ser)
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208
NM_000535.7(PMS2):c.96A>G (p.Val32=) rs746089731
NM_000535.7(PMS2):c.971A>C (p.Asn324Thr) rs1554299388
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259
NM_000535.7(PMS2):c.975T>G (p.Ile325Met)
NM_000535.7(PMS2):c.979G>A (p.Val327Ile) rs1257825900
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.988+10A>G rs372554253
NM_000535.7(PMS2):c.988+4A>C
NM_000535.7(PMS2):c.988+4A>G rs763959308
NM_000535.7(PMS2):c.989-13dup rs1333503820
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000535.7(PMS2):c.989-5C>T rs1401221727
NM_000535.7(PMS2):c.989-8T>A
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly)
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr) rs1184563006
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389
NM_000535.7(PMS2):c.994G>C (p.Val332Leu)
NM_000535.7(PMS2):c.9_23+7del rs1562711587
Single allele

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