ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 1278
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HGVS dbSNP
NC_000007.13:g.(?_6013020)_(6022632_?)dup
NC_000007.13:g.(?_6013024)_(6022628_?)dup
NC_000007.13:g.(?_6022445)_(6022632_?)dup
NC_000007.13:g.(?_6026380)_(6037064_?)dup
NC_000007.13:g.(?_6026380)_(6038916_?)dup
NC_000007.13:g.(?_6026380)_(6048660_?)dup
NC_000007.13:g.(?_6026384)_(6048656_?)dup
NC_000007.13:g.(?_6031594)_(6048660_?)dup
NC_000007.13:g.(?_6042078)_(6048656_?)dup
NM_000535.5(PMS2):c.164-13_164-12delTT rs1064796250
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
NM_000535.6(PMS2):c.-101A>G rs587779325
NM_000535.6(PMS2):c.1610_1611ins18 (p.?)
NM_000535.6(PMS2):c.2175-?_2445+?del
NM_000535.6(PMS2):c.2276-3del rs587782116
NM_000535.6(PMS2):c.2446-5_2446-2delCTCA rs876658344
NM_000535.6(PMS2):c.904-?_988+?dup
NM_000535.7(PMS2):c.*2C>T rs764124442
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.*3G>C rs776493195
NM_000535.7(PMS2):c.*3G>T rs776493195
NM_000535.7(PMS2):c.-13G>C rs747488315
NM_000535.7(PMS2):c.-17G>T rs1017353894
NM_000535.7(PMS2):c.-1C>A rs369681753
NM_000535.7(PMS2):c.-1C>T rs369681753
NM_000535.7(PMS2):c.-2C>T rs876658209
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-5C>A rs786202272
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.-7_-5del rs1064794112
NM_000535.7(PMS2):c.-8_-6del rs755165788
NM_000535.7(PMS2):c.-9G>C rs778155088
NM_000535.7(PMS2):c.1001T>C (p.Ile334Thr) rs1234321567
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.100A>C (p.Ser34Arg) rs730881912
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.1022G>C (p.Arg341Thr) rs1554298800
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.1032G>C (p.Leu344Phe) rs1554298791
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg) rs752268571
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1046A>C (p.Lys349Thr) rs1562644757
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe) rs1060503145
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser) rs1060503134
NM_000535.7(PMS2):c.1057G>A (p.Ala353Thr) rs587782826
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323
NM_000535.7(PMS2):c.1060G>A (p.Val354Ile)
NM_000535.7(PMS2):c.1060G>T (p.Val354Phe)
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>G (p.Thr357Ser) rs980612510
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile) rs980612510
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr) rs767755376
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.1079T>A (p.Ile360Lys) rs1554298715
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.1081G>A (p.Gly361Arg) rs1562644325
NM_000535.7(PMS2):c.1082G>A (p.Gly361Glu) rs1064793540
NM_000535.7(PMS2):c.1082G>C (p.Gly361Ala)
NM_000535.7(PMS2):c.1084A>G (p.Met362Val) rs876659797
NM_000535.7(PMS2):c.1084A>T (p.Met362Leu) rs876659797
NM_000535.7(PMS2):c.1088T>G (p.Phe363Cys) rs1554298706
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.1094G>T (p.Ser365Ile) rs1554298690
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.109A>G (p.Thr37Ala) rs876659883
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272
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.1117A>C (p.Ser373Arg) rs1060503125
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly) rs1060503125
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1119T>G (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1121_1123AGC[1] (p.Gln375del)
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911
NM_000535.7(PMS2):c.1129C>G (p.Leu377Val)
NM_000535.7(PMS2):c.112G>T (p.Ala38Ser) rs1554306427
NM_000535.7(PMS2):c.1131G>A (p.Leu377=) rs1064794687
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly) rs748971523
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1144+3A>T rs1430015665
NM_000535.7(PMS2):c.1144+4A>G rs1554298642
NM_000535.7(PMS2):c.1144+5del rs878854032
NM_000535.7(PMS2):c.1144G>A (p.Gly382Ser)
NM_000535.7(PMS2):c.1145-10G>A rs533551639
NM_000535.7(PMS2):c.1145-17delinsGGAG rs1562637330
NM_000535.7(PMS2):c.1145-5C>T rs267608157
NM_000535.7(PMS2):c.1145-8T>G rs1554298100
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp) rs876661243
NM_000535.7(PMS2):c.1146T>C (p.Gly382=) rs1554298091
NM_000535.7(PMS2):c.1147A>G (p.Asn383Asp)
NM_000535.7(PMS2):c.1148A>G (p.Asn383Ser) rs1562637184
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
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.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.1171G>C (p.Asp391His)
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr) rs1064795020
NM_000535.7(PMS2):c.1172A>C (p.Asp391Ala)
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys) rs1243063129
NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg)
NM_000535.7(PMS2):c.1183C>T (p.Pro395Ser)
NM_000535.7(PMS2):c.1186A>G (p.Met396Val) rs863224675
NM_000535.7(PMS2):c.1187T>C (p.Met396Thr) rs786202704
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.11C>T (p.Ala4Val) 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.120G>C (p.Lys40Asn) rs1060504843
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.1215A>C (p.Ser405=) rs1554298028
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.1221G>T (p.Arg407Ser) rs1305178511
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1226G>T (p.Gly409Val) rs1554298002
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys) rs1358586679
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
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_1239del (p.Lys413del) rs267608159
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.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1243G>C (p.Val415Leu) 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.1247C>T (p.Ser416Phe) rs1554297981
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.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.125_127TAG[1] (p.Val43del) rs1064794820
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175
NM_000535.7(PMS2):c.1265A>G (p.Glu422Gly) rs1562635355
NM_000535.7(PMS2):c.1267G>T (p.Ala423Ser)
NM_000535.7(PMS2):c.1268C>A (p.Ala423Asp) rs756883400
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1268C>T (p.Ala423Val) rs756883400
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu) rs1562635229
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544
NM_000535.7(PMS2):c.127G>A (p.Val43Ile) rs587780042
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.1286C>G (p.Thr429Arg) rs1554297938
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.1295A>G (p.Asn432Ser)
NM_000535.7(PMS2):c.1296C>G (p.Asn432Lys) rs1562635023
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)
NM_000535.7(PMS2):c.1298A>C (p.Lys433Thr) rs1064796375
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.1304A>C (p.His435Pro) rs1554297915
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.130G>C (p.Glu44Gln) rs786202669
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln) rs878854033
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile)
NM_000535.7(PMS2):c.1318C>A (p.Pro440Thr) rs762894051
NM_000535.7(PMS2):c.1318C>G (p.Pro440Ala) rs762894051
NM_000535.7(PMS2):c.1319C>T (p.Pro440Leu) rs1064793233
NM_000535.7(PMS2):c.131A>T (p.Glu44Val) rs876659955
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
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.1334G>A (p.Ser445Asn) rs1554297872
NM_000535.7(PMS2):c.1342G>C (p.Gly448Arg) rs786203757
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu) rs1060503118
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.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.1354G>T (p.Gly452Cys) 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.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.135C>G (p.Asn45Lys) rs1408915250
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro) rs1554297839
NM_000535.7(PMS2):c.1364C>G (p.Ser455Cys) rs748698776
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776
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.1373C>A (p.Thr458Asn) rs755348833
NM_000535.7(PMS2):c.1373C>G (p.Thr458Ser) rs755348833
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile) rs755348833
NM_000535.7(PMS2):c.1378G>C (p.Gly460Arg) rs1554297825
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.1379G>T (p.Gly460Val) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val) rs1060503133
NM_000535.7(PMS2):c.1384A>C (p.Ile462Leu) rs200116037
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.1389T>C (p.Ser463=) rs1554297811
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn) rs1394213772
NM_000535.7(PMS2):c.1391A>T (p.Asp464Val)
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn) rs1208428952
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp)
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.7(PMS2):c.1399G>C (p.Val467Leu) 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.1417G>A (p.Glu473Lys) rs786203427
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291
NM_000535.7(PMS2):c.1422A>G (p.Ala474=)
NM_000535.7(PMS2):c.1423G>A (p.Val475Met) rs864622579
NM_000535.7(PMS2):c.1423G>T (p.Val475Leu) rs864622579
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu) rs587781827
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.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.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.1450C>T (p.Pro484Ser) rs752122569
NM_000535.7(PMS2):c.1451C>G (p.Pro484Arg)
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.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1467G>C (p.Glu489Asp)
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly) rs786203255
NM_000535.7(PMS2):c.1471G>A (p.Glu491Lys) rs1064794577
NM_000535.7(PMS2):c.1471_1473del (p.Glu491del) rs764854869
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn) rs148642064
NM_000535.7(PMS2):c.1477G>C (p.Asp493His) rs148642064
NM_000535.7(PMS2):c.1480T>C (p.Ser494Pro) rs587782500
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala) rs587782500
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602
NM_000535.7(PMS2):c.1483G>C (p.Gly495Arg) rs1554297701
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala) rs1064793846
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.1495A>G (p.Thr499Ala) rs1060503117
NM_000535.7(PMS2):c.1496C>T (p.Thr499Ile) rs746064480
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.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.1515G>A (p.Gly505=) rs753856135
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly) rs63751028
NM_000535.7(PMS2):c.1520G>A (p.Ser507Asn) rs766256390
NM_000535.7(PMS2):c.152C>A (p.Ala51Asp)
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser) rs2228007
NM_000535.7(PMS2):c.1531_1532inv (p.Thr511Val)
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1533G>A (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.1540C>A (p.His514Asn) rs878854036
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1543T>C (p.Cys515Arg) rs1554297603
NM_000535.7(PMS2):c.1546A>G (p.Ser516Gly) rs1554297592
NM_000535.7(PMS2):c.1546_1551del (p.Ser516_Ser517del) rs970418297
NM_000535.7(PMS2):c.1549A>T (p.Ser517Cys) rs786202274
NM_000535.7(PMS2):c.1550G>A (p.Ser517Asn) rs1562630934
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.1554G>C (p.Glu518Asp) rs1562630820
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.1556_1559del (p.Tyr519fs) rs876661003
NM_000535.7(PMS2):c.1556_1567delinsGTGTGGCCAGCA (p.Tyr519_Ser523delinsCysValAlaSerThr) rs1554297549
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.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1561G>A (p.Ala521Thr) rs1164227556
NM_000535.7(PMS2):c.1564A>C (p.Ser522Arg) rs1554297553
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.1571C>T (p.Pro524Leu) rs63751257
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>G (p.Asp526Glu) rs63750236
NM_000535.7(PMS2):c.1579A>G (p.Arg527Gly)
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.1583G>C (p.Gly528Ala) rs1554297518
NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu) rs876658794
NM_000535.7(PMS2):c.1587G>A (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.1619C>G (p.Pro540Arg) rs1562629708
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr) rs764565924
NM_000535.7(PMS2):c.1628A>G (p.Asp543Gly) rs1060503146
NM_000535.7(PMS2):c.163+4A>G rs864622749
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val) rs1562629531
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.1636T>C (p.Phe546Leu) rs1554297427
NM_000535.7(PMS2):c.1639T>C (p.Ser547Pro) rs1554297423
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.164-5T>G 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.164A>T (p.Asp55Val) rs587781846
NM_000535.7(PMS2):c.1652G>T (p.Cys551Phe) rs1554297409
NM_000535.7(PMS2):c.1653C>G (p.Cys551Trp) rs876659162
NM_000535.7(PMS2):c.1654C>A (p.His552Asn) rs786204114
NM_000535.7(PMS2):c.1663C>G (p.Gln555Glu) rs1554297399
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.1672A>G (p.Thr558Ala) rs781106967
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.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.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1689_1690del (p.Val564fs) rs876661004
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.1702C>T (p.Pro568Ser) rs786204115
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.1712T>A (p.Leu571His) rs1060503128
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg) rs1060503128
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser) rs63751023
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
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.171G>C (p.Lys57Asn) rs760031402
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.1726A>T (p.Thr576Ser) rs863224677
NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile) rs1554297301
NM_000535.7(PMS2):c.1729A>C (p.Lys577Gln) rs754339271
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.1742A>T (p.Lys581Ile) rs1554297289
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.1756T>C (p.Ser586Pro) rs1562627766
NM_000535.7(PMS2):c.1759A>T (p.Ser587Cys) rs1554297277
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1761T>G (p.Ser587Arg) rs1311237867
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1766A>T (p.Asp589Val) rs774767419
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.1783G>C (p.Val595Leu) rs1171070752
NM_000535.7(PMS2):c.1784T>C (p.Val595Ala) rs1554297236
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp)
NM_000535.7(PMS2):c.1788_1789delinsGT (p.Asn596_Thr597delinsLysSer) rs1554297233
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
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.1796A>T (p.Asp599Val) rs878854039
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005
NM_000535.7(PMS2):c.1798A>T (p.Met600Leu) rs1304634005
NM_000535.7(PMS2):c.17G>A (p.Ser6Asn) rs587781112
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.1808C>T (p.Ser603Phe) rs770841005
NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys)
NM_000535.7(PMS2):c.1810C>G (p.Gln604Glu) rs1064793426
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109
NM_000535.7(PMS2):c.1821A>G (p.Val607=) rs1554297205
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val) rs1562627020
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.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.1839G>C (p.Lys613Asn) rs1554297185
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.1850C>T (p.Pro617Leu) rs747785888
NM_000535.7(PMS2):c.1853T>C (p.Leu618Pro)
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr) rs1179605136
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu) rs876661271
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.1867A>T (p.Ser623Cys) rs1562626548
NM_000535.7(PMS2):c.1868G>A (p.Ser623Asn) rs1562626526
NM_000535.7(PMS2):c.1870T>G (p.Ser624Ala) rs63750980
NM_000535.7(PMS2):c.1876G>A (p.Ala626Thr)
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro) rs587779331
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp) rs786203121
NM_000535.7(PMS2):c.1877C>G (p.Ala626Gly) rs786203121
NM_000535.7(PMS2):c.1882C>G (p.Arg628Gly) rs63750451
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr)
NM_000535.7(PMS2):c.18C>G (p.Ser6Arg) rs1221290124
NM_000535.7(PMS2):c.1901A>G (p.His634Arg) rs767904893
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys) rs878854040
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1906G>T (p.Ala636Ser) rs876658863
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1918G>C (p.Glu640Gln) rs886062400
NM_000535.7(PMS2):c.191A>G (p.Asp64Gly) rs786203019
NM_000535.7(PMS2):c.1920A>G (p.Glu640=) rs1060503113
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val) rs1554297114
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.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.194T>G (p.Leu65Arg) rs749141001
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.1955T>A (p.Ile652Asn) rs1554297091
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.1961C>T (p.Pro654Leu)
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg) rs1064793236
NM_000535.7(PMS2):c.1964G>A (p.Gly655Glu) rs1554297077
NM_000535.7(PMS2):c.1966G>A (p.Glu656Lys) rs876658931
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr) rs786203095
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.1984G>C (p.Asp662His) rs1562625087
NM_000535.7(PMS2):c.1988A>C (p.Glu663Ala) rs587779332
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045
NM_000535.7(PMS2):c.1999G>C (p.Glu667Gln)
NM_000535.7(PMS2):c.199G>A (p.Glu67Lys) rs730881913
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro) rs1064793232
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg) rs1562624877
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+3A>G rs1064793866
NM_000535.7(PMS2):c.2006+67del rs1159879425
NM_000535.7(PMS2):c.2007-117C>T rs587779334
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2007-9T>G rs1194759833
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala) rs876661087
NM_000535.7(PMS2):c.2012C>G (p.Thr671Arg) rs587780046
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2013G>A (p.Thr671=) rs771513870
NM_000535.7(PMS2):c.2015T>A (p.Met672Lys) rs1554295972
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu) rs1562616167
NM_000535.7(PMS2):c.2026A>G (p.Met676Val) rs1554295955
NM_000535.7(PMS2):c.2030A>C (p.Glu677Ala) rs1554295953
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
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.2038G>A (p.Gly680Ser) rs1182717826
NM_000535.7(PMS2):c.203_208del (p.Val68_Ser69del) rs864622506
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2047A>T (p.Asn683Tyr) rs786202668
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
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.2069A>G (p.Lys690Arg) rs876661164
NM_000535.7(PMS2):c.206C>T (p.Ser69Leu) rs730881914
NM_000535.7(PMS2):c.2070A>T (p.Lys690Asn) rs786201749
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876
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.2092G>A (p.Val698Met) rs751551006
NM_000535.7(PMS2):c.2093T>G (p.Val698Gly) rs1085308060
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly) rs878854043
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu) rs1064793501
NM_000535.7(PMS2):c.209A>G (p.Asp70Gly) rs1554305000
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp) rs587780048
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) 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.2104G>A (p.Ala702Thr) rs1554295821
NM_000535.7(PMS2):c.2104G>T (p.Ala702Ser) rs1554295821
NM_000535.7(PMS2):c.2108C>A (p.Thr703Lys) rs370196722
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu) rs1554304997
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061
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.2120A>G (p.Tyr707Cys) rs1554295795
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu) rs199943748
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
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.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.215G>T (p.Gly72Val)
NM_000535.7(PMS2):c.2160G>C (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly)
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
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.2171T>C (p.Ile724Thr) rs1060503123
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+3G>A rs1400193171
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.2175-3C>T rs1326163718
NM_000535.7(PMS2):c.2175-65_2175-61del rs1417472000
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.2176C>T (p.Pro726Ser) rs1407555810
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu) rs876658439
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.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2193_2217delinsT (p.Leu731_Leu739delinsPhe)
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2203A>G (p.Asn735Asp) rs1554294476
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.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2213T>C (p.Val738Ala)
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr) rs1554294462
NM_000535.7(PMS2):c.221G>C (p.Gly74Ala) rs876661272
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.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp) rs878854045
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.2260G>A (p.Val754Ile) rs876658822
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
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.2267A>T (p.Asp756Val) rs1554294409
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+5G>C
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser) rs1554294396
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.2276-4T>C rs1562602173
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser) rs763468927
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+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+7G>T rs878854047
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.2324A>T (p.Asn775Ile) rs17420802
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser) rs777728316
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.2341C>A (p.Gln781Lys) rs587780054
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.2346C>T (p.Asp782=) rs139031103
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.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) rs191300933
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met) rs1064794923
NM_000535.7(PMS2):c.2362T>C (p.Phe788Leu) rs876658480
NM_000535.7(PMS2):c.2363T>C (p.Phe788Ser) rs1554293904
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.2383G>A (p.Gly795Arg) rs1423733655
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu) rs786203838
NM_000535.7(PMS2):c.2385G>A (p.Gly795=) rs372868520
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.2390T>G (p.Met797Arg) 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.23G>C (p.Ser8Thr) rs1352544158
NM_000535.7(PMS2):c.24-3T>C rs749485884
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.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.2414A>G (p.Gln805Arg) rs967502389
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu) rs1554293792
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile) rs786203096
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.2430A>T (p.Arg810Ser)
NM_000535.7(PMS2):c.2431G>A (p.Ala811Thr) rs1169337656
NM_000535.7(PMS2):c.2435G>A (p.Cys812Tyr) rs876661116
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe) 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+3A>T rs765667554
NM_000535.7(PMS2):c.2445+5G>C
NM_000535.7(PMS2):c.2445+9A>G rs1562600132
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.2446-25_2446-23del rs587779339
NM_000535.7(PMS2):c.2446-5C>G rs864622279
NM_000535.7(PMS2):c.2446G>T (p.Val816Leu) rs876659479
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu) rs1060503140
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.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro) rs587781636
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
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.2479A>G (p.Met827Val) rs876659537
NM_000535.7(PMS2):c.2483A>G (p.Lys828Arg)
NM_000535.7(PMS2):c.2484G>T (p.Lys828Asn)
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val) rs876661221
NM_000535.7(PMS2):c.2494A>G (p.Thr832Ala) rs587780056
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+4A>G rs1554304934
NM_000535.7(PMS2):c.250+5G>A rs1458809226
NM_000535.7(PMS2):c.250+5G>C rs1458809226
NM_000535.7(PMS2):c.250+6T>G
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu) rs1554292828
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.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-11C>G rs761795058
NM_000535.7(PMS2):c.251-18C>G rs766811365
NM_000535.7(PMS2):c.251-8T>C rs267608146
NM_000535.7(PMS2):c.251-9C>G rs1064793639
NM_000535.7(PMS2):c.2511G>A (p.Met837Ile) rs1554292802
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.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg) rs1554292753
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr) rs267608174
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.2538A>G (p.Gly846=) rs863224368
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.2546C>T (p.Thr849Ile) rs876660627
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs) rs1064792975
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.2559C>T (p.Ile853=) 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>C (p.Ala854Pro) rs574371474
NM_000535.7(PMS2):c.2560G>T (p.Ala854Ser)
NM_000535.7(PMS2):c.2563A>G (p.Asn855Asp) rs1064793328
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342
NM_000535.7(PMS2):c.2569G>C (p.Gly857Arg) rs750820328
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.2570G>T (p.Gly857Val) rs1802683
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile) rs368036201
NM_000535.7(PMS2):c.2575A>G (p.Ile859Val) rs587780058
NM_000535.7(PMS2):c.2579C>G (p.Ser860Cys)
NM_000535.7(PMS2):c.2586C>G (p.Asn862Lys) rs1554292691
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.263A>G (p.His88Arg) rs1554304774
NM_000535.7(PMS2):c.269C>A (p.Ser90Tyr) rs770678468
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys) 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.280G>A (p.Glu94Lys)
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu) rs1554304717
NM_000535.7(PMS2):c.288C>A (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn) rs1395998044
NM_000535.7(PMS2):c.289G>C (p.Asp97His) rs1395998044
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu) rs878854049
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.29A>C (p.Glu10Ala) rs878854050
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.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.310T>C (p.Phe104Leu) rs1554304677
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.313G>C (p.Gly105Arg) rs1554304666
NM_000535.7(PMS2):c.313G>T (p.Gly105Cys) 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>C (p.Arg107Pro) 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>C (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg) rs750866397
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys) rs63749862
NM_000535.7(PMS2):c.328G>A (p.Ala110Thr)
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu) rs1291217267
NM_000535.7(PMS2):c.331C>G (p.Leu111Val) rs864622232
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro) rs1554304623
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.349C>A (p.Leu117Met) rs1554304592
NM_000535.7(PMS2):c.349C>T (p.Leu117=) rs1554304592
NM_000535.7(PMS2):c.34G>A (p.Ala12Thr) rs1481967985
NM_000535.7(PMS2):c.353+3G>A rs766373982
NM_000535.7(PMS2):c.353+4A>C rs760538709
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353+6dup rs1562693353
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
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.354-7C>T rs758471869
NM_000535.7(PMS2):c.354C>A (p.Ser118Arg) rs760615315
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.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>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.382T>C (p.Ser128Pro) rs1562690462
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380
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.401G>A (p.Arg134Gln) rs771300829
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
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.409T>G (p.Phe137Val) rs1060503141
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.416A>G (p.His139Arg) rs876658142
NM_000535.7(PMS2):c.418A>G (p.Asn140Asp) rs35911407
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.41C>T (p.Ala14Val) rs750524554
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr) rs1562690040
NM_000535.7(PMS2):c.430A>G (p.Ile144Val) rs876659055
NM_000535.7(PMS2):c.430A>T (p.Ile144Phe) rs876659055
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) rs786204133
NM_000535.7(PMS2):c.434A>G (p.Gln145Arg) rs1064795040
NM_000535.7(PMS2):c.438A>C (p.Lys146Asn) rs1396558771
NM_000535.7(PMS2):c.438A>T (p.Lys146Asn) rs1396558771
NM_000535.7(PMS2):c.43A>G (p.Ile15Val) rs878854051
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn) rs1554304012
NM_000535.7(PMS2):c.442C>G (p.Pro148Ala) rs1554304009
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.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.448C>G (p.Pro150Ala) rs1060503120
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) 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.455C>G (p.Pro152Arg) rs876660161
NM_000535.7(PMS2):c.457A>G (p.Arg153Gly) rs779013546
NM_000535.7(PMS2):c.45C>G (p.Ile15Met) rs876660499
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>A (p.Thr156Lys) rs1554303953
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile) rs1554303953
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
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.471C>A (p.Val157=) rs878854052
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.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.475G>T (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.479A>C (p.Gln160Pro) rs1554303922
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.482A>G (p.Gln161Arg) rs1554303917
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.493A>G (p.Thr165Ala) rs1554303902
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541
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.500C>T (p.Pro167Leu) rs1554303894
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.50C>A (p.Pro17His) rs1554306578
NM_000535.7(PMS2):c.513G>A (p.Lys171=) rs1280423254
NM_000535.7(PMS2):c.514G>A (p.Glu172Lys) rs876660196
NM_000535.7(PMS2):c.522A>C (p.Gln174His) rs1554303873
NM_000535.7(PMS2):c.524G>T (p.Arg175Met) rs1562688735
NM_000535.7(PMS2):c.525G>C (p.Arg175Ser) rs1554303870
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.530T>C (p.Ile177Thr) rs769312937
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.532_534AAG[1] (p.Lys179del) rs876661092
NM_000535.7(PMS2):c.537+3A>G rs876659939
NM_000535.7(PMS2):c.537+4C>G rs864622272
NM_000535.7(PMS2):c.537+4C>T rs864622272
NM_000535.7(PMS2):c.537+5A>G rs1562688519
NM_000535.7(PMS2):c.537+6G>A rs1358613918
NM_000535.7(PMS2):c.537G>A (p.Lys179=) rs864622074
NM_000535.7(PMS2):c.538-16T>G rs763941291
NM_000535.7(PMS2):c.538-3C>G rs1554302546
NM_000535.7(PMS2):c.538G>C (p.Glu180Gln) rs876660198
NM_000535.7(PMS2):c.539A>C (p.Glu180Ala) rs1064793401
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.542A>T (p.Tyr181Phe) rs863224681
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr) rs587779341
NM_000535.7(PMS2):c.545C>A (p.Ala182Asp) rs1562679272
NM_000535.7(PMS2):c.551T>C (p.Met184Thr)
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
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>C (p.His189Pro) rs876660330
NM_000535.7(PMS2):c.566A>G (p.His189Arg) rs876660330
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly) rs1554306564
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.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.598G>A (p.Val200Ile) rs587778620
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro) rs10254120
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly) rs876658233
NM_000535.7(PMS2):c.5A>T (p.Glu2Val) rs876658233
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala) rs730881907
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.609_610delinsGG (p.Asn204Asp) rs1554302457
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.613C>A (p.Gln205Lys) rs758250810
NM_000535.7(PMS2):c.613C>G (p.Gln205Glu) rs758250810
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.619G>A (p.Gly207Arg) rs368847322
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala) rs374704824
NM_000535.7(PMS2):c.623A>G (p.Gln208Arg) rs1554302423
NM_000535.7(PMS2):c.629A>C (p.Lys210Thr) rs753562256
NM_000535.7(PMS2):c.631C>G (p.Arg211Gly) 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.635A>C (p.Gln212Pro)
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.643G>A (p.Val215Ile) rs1064794017
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>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.656G>A (p.Gly219Glu) rs749431015
NM_000535.7(PMS2):c.659G>A (p.Ser220Asn) rs769967916
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg) rs878854056
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
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.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.673G>A (p.Glu225Lys) rs1562677770
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.676A>C (p.Asn226His) rs587782791
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser) rs778534735
NM_000535.7(PMS2):c.679A>G (p.Ile227Val) rs1554302326
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.685T>C (p.Ser229Pro) rs730881909
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.688G>A (p.Val230Met) rs1562677528
NM_000535.7(PMS2):c.689T>A (p.Val230Glu)
NM_000535.7(PMS2):c.68T>G (p.Val23Gly) rs1060503114
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.700A>G (p.Lys234Glu) rs1554302295
NM_000535.7(PMS2):c.705+3A>G rs764334813
NM_000535.7(PMS2):c.705G>A (p.Gln235=) rs876660872
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.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
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.712A>G (p.Ser238Gly) rs1060503149
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.718A>T (p.Ile240Phe)
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala) rs779411667
NM_000535.7(PMS2):c.722C>G (p.Pro241Arg) rs1554301523
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu) rs1554301523
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.7(PMS2):c.733C>G (p.Leu245Val) rs201375580
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.736C>T (p.Pro246Ser) rs765668173
NM_000535.7(PMS2):c.736_741delinsGTTGTGAAG (p.Pro246_Pro247delinsValValLys) rs267608150
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg) rs1562670885
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.739C>G (p.Pro247Ala)
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser) rs878854058
NM_000535.7(PMS2):c.748T>C (p.Ser250Pro) rs766690351
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.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.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.763T>A (p.Tyr255Asn) rs1554301471
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.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr) rs1554301436
NM_000535.7(PMS2):c.775T>C (p.Cys259Arg) rs1554301455
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.779_780inv (p.Ser260Trp) rs730881920
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.784G>T (p.Ala262Ser) rs779625900
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.78_107del (p.Cys27_Ser36del) rs1554306440
NM_000535.7(PMS2):c.791A>C (p.His264Pro) rs1060503129
NM_000535.7(PMS2):c.792T>A (p.His264Gln) rs1554301398
NM_000535.7(PMS2):c.793A>G (p.Asn265Asp) rs1241742968
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu) rs876661158
NM_000535.7(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_000535.7(PMS2):c.801T>G (p.Phe267Leu) rs1554301382
NM_000535.7(PMS2):c.803+4A>G rs756312205
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.803+7A>G rs1562669544
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.804-4A>C rs1475598645
NM_000535.7(PMS2):c.804-8T>C rs1562664890
NM_000535.7(PMS2):c.805A>G (p.Ile269Val) rs1554300825
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.824A>G (p.Gln275Arg) rs546966892
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
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>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.830C>T (p.Thr277Met) rs1805322
NM_000535.7(PMS2):c.832C>A (p.His278Asn) rs1554300796
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.836G>T (p.Gly279Val) rs587782668
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly) rs1554300793
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>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
NM_000535.7(PMS2):c.854C>A (p.Thr285Lys)
NM_000535.7(PMS2):c.855A>G (p.Thr285=) rs1554300771
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.859A>G (p.Arg287Gly) rs876658712
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys) rs1060503122
NM_000535.7(PMS2):c.861A>T (p.Arg287Ser) rs1554300756
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>C (p.Phe290Leu) rs587782833
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.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.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.890G>A (p.Cys297Tyr) rs869312802
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000535.7(PMS2):c.892G>A (p.Asp298Asn) rs876660955
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) rs1562663421
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.899C>T (p.Ala300Val) rs1554300702
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981
NM_000535.7(PMS2):c.8G>C (p.Arg3Pro) rs375507981
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu) rs757409701
NM_000535.7(PMS2):c.902A>C (p.Lys301Thr) rs1554300696
NM_000535.7(PMS2):c.903+3A>G rs1562663258
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.904-11A>G rs748113698
NM_000535.7(PMS2):c.904-14T>A rs1064795266
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629
NM_000535.7(PMS2):c.908G>A (p.Cys303Tyr)
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.916G>A (p.Val306Met) rs587780063
NM_000535.7(PMS2):c.916G>C (p.Val306Leu) 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.921T>G (p.Asn307Lys) rs587779346
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.929A>T (p.Tyr310Phe) rs372172981
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.934A>T (p.Met312Leu)
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.938A>G (p.Tyr313Cys) rs587782513
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.94G>A (p.Val32Ile) rs977251189
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.959T>G (p.Phe320Cys) rs1060503121
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.965T>C (p.Val322Ala) rs1554299392
NM_000535.7(PMS2):c.967C>G (p.Leu323Val) rs1554299391
NM_000535.7(PMS2):c.970A>T (p.Asn324Tyr) rs1562651233
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+4A>C
NM_000535.7(PMS2):c.988+4A>G rs763959308
NM_000535.7(PMS2):c.988+78G>A rs267608155
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.98T>G (p.Leu33Arg) rs1554306467
NM_000535.7(PMS2):c.991T>G (p.Cys331Gly) rs1554298831
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr) rs1184563006
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389
NM_000535.7(PMS2):c.994G>C (p.Val332Leu)
NM_001322007.1(PMS2):c.-261T>A rs765248325
NM_001322007.1(PMS2):c.-263C>A rs886062402
NM_001322007.1(PMS2):c.-292del rs1057524913
Single allele

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