ClinVar Miner

List of variants in gene PMS2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 888
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HGVS dbSNP
NM_000535.6(PMS2):c.1610_1611ins18 (p.?)
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.6(PMS2):c.2276-3del rs587782116
NM_000535.6(PMS2):c.2446-5_2446-2delCTCA rs876658344
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.988+1delG rs876660075
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.-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.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.1008T>G (p.Val336=) rs1057521429
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.101G>T (p.Ser34Ile) rs370612538
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1022G>C (p.Arg341Thr) rs1554298800
NM_000535.7(PMS2):c.1023G>A (p.Arg341=) rs746961377
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1032G>A (p.Leu344=) rs1554298791
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875
NM_000535.7(PMS2):c.1054T>C (p.Leu352=) rs1554298752
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.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
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>G (p.Thr357Ser) rs980612510
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1079T>A (p.Ile360Lys) rs1554298715
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
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.1092T>A (p.Asp364Glu) rs370066853
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.1107G>A (p.Lys369=) rs1554298683
NM_000535.7(PMS2):c.1110A>G (p.Leu370=) rs1554298681
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272
NM_000535.7(PMS2):c.1116C>T (p.Val372=) rs876659729
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.1134G>T (p.Leu378=) rs754576828
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.1146T>C (p.Gly382=) rs1554298091
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.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792
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.1181del (p.Lys394fs) rs1554298067
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.1189G>A (p.Val397Ile) rs573123885
NM_000535.7(PMS2):c.118A>G (p.Lys40Glu) rs786202542
NM_000535.7(PMS2):c.1191A>G (p.Val397=) rs864622595
NM_000535.7(PMS2):c.1192G>C (p.Glu398Gln) rs1171400724
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter) rs876658862
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.7(PMS2):c.119_122dup (p.Leu42fs) rs1554306391
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.1203T>C (p.Asp401=) rs1057522327
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.1209C>G (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
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.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.1231_1232delinsTT (p.Glu411Leu) rs786202871
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala) rs587782832
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1233A>G (p.Glu411=) rs587780040
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
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.1245G>C (p.Val415=) rs370701800
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640
NM_000535.7(PMS2):c.125_127TAG[1] (p.Val43del) rs1064794820
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.1266G>A (p.Glu422=) rs138049175
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.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.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427
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.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.1311A>G (p.Pro437=) rs1554297898
NM_000535.7(PMS2):c.1318C>G (p.Pro440Ala) rs762894051
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.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1342G>C (p.Gly448Arg) rs786203757
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
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.1345C>T (p.Gln449Ter) 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.1355G>T (p.Gly452Val) rs1490598044
NM_000535.7(PMS2):c.1356T>C (p.Gly452=) rs786202946
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.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.1368T>C (p.Ser456=) rs587780723
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro) rs779306532
NM_000535.7(PMS2):c.1373C>G (p.Thr458Ser) rs755348833
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>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val) rs1060503133
NM_000535.7(PMS2):c.1383C>T (p.Ala461=) rs756335943
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val) rs200116037
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.1394A>G (p.Lys465Arg) rs141084758
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.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944
NM_000535.7(PMS2):c.1402C>T (p.Leu468=) rs759306219
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT (p.Pro470delinsValPheTer) rs1554297781
NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter) rs63751228
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.1424T>A (p.Val475Glu) rs587781827
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
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.1435C>G (p.His479Asp) rs376344586
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.1444A>G (p.Ser482Gly) rs786203510
NM_000535.7(PMS2):c.1450C>A (p.Pro484Thr) rs752122569
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.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1464G>A (p.Ala488=) rs754945468
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.146C>G (p.Ala49Gly) rs786203255
NM_000535.7(PMS2):c.1470G>A (p.Val490=) rs786203076
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
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.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1483G>C (p.Gly495Arg) rs1554297701
NM_000535.7(PMS2):c.1485G>A (p.Gly495=) rs143865305
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.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>G (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1506T>C (p.Asp502=) rs63750354
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.1518C>T (p.Phe506=) rs1554297654
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.1531A>G (p.Thr511Ala) rs2228007
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.1533G>T (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.1539T>C (p.Ser513=) rs786202950
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
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.1551C>A (p.Ser517Arg) rs587782479
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
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.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1560G>C (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) 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.1579_1580del (p.Arg527fs) rs1064793234
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.1602C>G (p.Asp534Glu) rs1554297497
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
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.1617G>T (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1622A>G (p.Lys541Arg) rs587781289
NM_000535.7(PMS2):c.1626T>C (p.Thr542=) rs1554297442
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+1G>A rs1064795705
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.1636T>C (p.Phe546Leu) rs1554297427
NM_000535.7(PMS2):c.164-1G>A rs763308607
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.1644T>C (p.Asp548=) rs786201630
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.164A>T (p.Asp55Val) rs587781846
NM_000535.7(PMS2):c.1653C>G (p.Cys551Trp) rs876659162
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.1663C>G (p.Gln555Glu) rs1554297399
NM_000535.7(PMS2):c.1665G>A (p.Gln555=) rs876659285
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.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.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr) rs876658481
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.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala) rs762151417
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>G (p.Leu571Arg) rs1060503128
NM_000535.7(PMS2):c.1713C>T (p.Leu571=) rs745774944
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) 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.1727C>T (p.Thr576Ile) rs1554297301
NM_000535.7(PMS2):c.1728A>G (p.Thr576=) rs754542046
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.1731G>A (p.Lys577=) rs1057523469
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
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.1761T>G (p.Ser587Arg) rs1311237867
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val) rs63750476
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu) rs1171070752
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.17G>A (p.Ser6Asn) rs587781112
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.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.1837A>C (p.Lys613Gln) rs63751230
NM_000535.7(PMS2):c.1839G>C (p.Lys613Asn) rs1554297185
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.1854G>A (p.Leu618=) rs876660784
NM_000535.7(PMS2):c.1863T>C (p.Ser621=) rs786203962
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.1874del (p.Ser624_Leu625insTer) rs786203073
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>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1884A>G (p.Arg628=) rs876659286
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
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.1902T>C (p.His634=) rs376335675
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.1912C>T (p.Gln638Ter) rs764342199
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.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.1935C>T (p.Tyr645=) rs786201737
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.1944T>C (p.Phe648=) rs144011908
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.1954A>T (p.Ile652Phe) rs748927376
NM_000535.7(PMS2):c.1956T>A (p.Ile652=) rs267608168
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.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) rs1554297061
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.1999_2000GA[1] (p.Glu667fs) rs1554297058
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.2005A>T (p.Ser669Cys) rs1554297049
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.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2010A>G (p.Lys670=) rs745305784
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2015T>A (p.Met672Lys) rs1554295972
NM_000535.7(PMS2):c.2030A>C (p.Glu677Ala) rs1554295953
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.2038G>A (p.Gly680Ser) rs1182717826
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) 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.2055A>G (p.Gly685=) rs786202005
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.2068A>C (p.Lys690Gln) rs587781909
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.2076T>C (p.Asn692=) rs1554295887
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876
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.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
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.2104G>T (p.Ala702Ser) rs1554295821
NM_000535.7(PMS2):c.2106C>T (p.Ala702=) rs786202273
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.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2120A>G (p.Tyr707Cys) rs1554295795
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.2136G>C (p.Leu712=) rs1554295780
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.213T>C (p.Asn71=) rs1554304994
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2157G>A (p.Gln719=) rs1554295735
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
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.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2174+3G>A rs1400193171
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2175-3C>T rs1326163718
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.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.2199T>C (p.Ala733=) rs876658952
NM_000535.7(PMS2):c.21G>A (p.Ser7=) rs587780726
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.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2226T>C (p.Asn742=) rs786202755
NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs) rs267608173
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.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile) rs876658822
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046
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.226G>C (p.Glu76Gln) rs371682056
NM_000535.7(PMS2):c.2271A>G (p.Glu757=) rs1476682377
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser) rs1554294396
NM_000535.7(PMS2):c.2276-10A>G rs573900018
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.2283C>T (p.Val761=) rs1554294008
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.2289A>G (p.Glu763=) rs786201442
NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter) rs1554293991
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.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.2332T>A (p.Phe778Ile) rs876660374
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053
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.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.2358G>C (p.Leu786=) rs535056715
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.2361_2364del (p.Phe788fs) rs267608160
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.2373C>T (p.Ser791=) rs864622765
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn) rs587781265
NM_000535.7(PMS2):c.2379C>T (p.Ser793=) rs1554293887
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.2382dup (p.Gly795fs) rs1231406078
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>T (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800
NM_000535.7(PMS2):c.2388C>A (p.Val796=) rs876660875
NM_000535.7(PMS2):c.2391G>A (p.Met797Ile) rs1554293841
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.2397G>A (p.Arg799=) rs1554293832
NM_000535.7(PMS2):c.2403C>T (p.Ser801=) rs1554293820
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.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.240del (p.Phe80fs) rs1554304957
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.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.2431G>A (p.Ala811Thr) rs1169337656
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>A rs876661113
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2446-1G>T rs774583397
NM_000535.7(PMS2):c.2446G>T (p.Val816Leu) rs876659479
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.2465T>C (p.Leu822Pro) rs587781636
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828
NM_000535.7(PMS2):c.2479A>G (p.Met827Val) rs876659537
NM_000535.7(PMS2):c.2497C>G (p.His833Asp) rs777470381
NM_000535.7(PMS2):c.2499C>T (p.His833=) rs876659564
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+5G>C rs1458809226
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu) rs1554292828
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu) rs1454373685
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.251-20T>G rs149343081
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2511G>A (p.Met837Ile) rs1554292802
NM_000535.7(PMS2):c.2517C>T (p.His839=) rs747600189
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2532C>T (p.Pro844=) rs1554292744
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2535T>C (p.His845=) rs876660464
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
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.2547C>G (p.Thr849=) rs876660072
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.2562C>T (p.Ala854=) rs1060504841
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.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile) rs368036201
NM_000535.7(PMS2):c.2586C>G (p.Asn862Lys) rs1554292691
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.267A>G (p.Thr89=) rs876659181
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile) rs1210073386
NM_000535.7(PMS2):c.270T>G (p.Ser90=) rs876660414
NM_000535.7(PMS2):c.279A>G (p.Gln93=) rs1554304728
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842
NM_000535.7(PMS2):c.282G>A (p.Glu94=) rs576942328
NM_000535.7(PMS2):c.288C>T (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.296C>T (p.Thr99Ile) rs786202835
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.309T>G (p.Thr103=) rs786202834
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.312T>C (p.Phe104=) rs778519215
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.321G>A (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.332T>C (p.Leu111Pro) rs1554304623
NM_000535.7(PMS2):c.339A>T (p.Ser113=) rs951573893
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871
NM_000535.7(PMS2):c.342T>C (p.Leu114=) rs1205203356
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.354-1G>A rs786203954
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.354C>A (p.Ser118Arg) rs760615315
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
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.378C>T (p.His126=) rs768488890
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.381A>C (p.Ala127=) rs1060504835
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) rs116373169
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.386C>T (p.Ala129Val) rs752284380
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
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>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.403C>G (p.Leu135Val) rs876658423
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
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.416A>G (p.His139Arg) rs876658142
NM_000535.7(PMS2):c.417C>T (p.His139=) rs876659919
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>C (p.Lys146Asn) rs1396558771
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.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.450C>T (p.Pro150=) rs1554303987
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.45C>G (p.Ile15Met) rs876660499
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.473G>A (p.Ser158Asn) 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.475G>T (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg) rs1554303922
NM_000535.7(PMS2):c.480G>A (p.Gln160=) rs1426242773
NM_000535.7(PMS2):c.482A>G (p.Gln161Arg) rs1554303917
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.496C>T (p.Leu166=) rs876659249
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
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.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.50C>A (p.Pro17His) rs1554306578
NM_000535.7(PMS2):c.514G>A (p.Glu172Lys) rs876660196
NM_000535.7(PMS2):c.51T>C (p.Pro17=) rs786201072
NM_000535.7(PMS2):c.522A>C (p.Gln174His) rs1554303873
NM_000535.7(PMS2):c.525G>A (p.Arg175=) rs1554303870
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.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.537+3A>G rs876659939
NM_000535.7(PMS2):c.538-3C>G rs1554302546
NM_000535.7(PMS2):c.538G>C (p.Glu180Gln) rs876660198
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.546C>T (p.Ala182=) rs1554302537
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.55G>C (p.Asp19His) rs1554306568
NM_000535.7(PMS2):c.566A>G (p.His189Arg) rs876660330
NM_000535.7(PMS2):c.567T>C (p.His189=) rs876660433
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.573C>T (p.Tyr191=) rs761134229
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
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.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>A (p.Arg20Gln) rs10254120
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.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.609_610delinsGG (p.Asn204Asp) rs1554302457
NM_000535.7(PMS2):c.60G>C (p.Arg20=) rs1554306548
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.619G>A (p.Gly207Arg) rs368847322
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) 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.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.645A>G (p.Val215=) rs1221117740
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908
NM_000535.7(PMS2):c.648C>T (p.Cys216=) rs762387250
NM_000535.7(PMS2):c.659G>A (p.Ser220Asn) rs769967916
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.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.676A>C (p.Asn226His) rs587782791
NM_000535.7(PMS2):c.679A>G (p.Ile227Val) rs1554302326
NM_000535.7(PMS2):c.681C>A (p.Ile227=) rs188813057
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.684C>T (p.Gly228=) rs371876208
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.690G>A (p.Val230=) rs749871098
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.696G>T (p.Gly232=) rs1358310474
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.6G>A (p.Glu2=) rs774177383
NM_000535.7(PMS2):c.702G>A (p.Lys234=) rs876660388
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.705+17A>G rs62456182
NM_000535.7(PMS2):c.705G>A (p.Gln235=) rs876660872
NM_000535.7(PMS2):c.706-2A>C rs745487791
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.713G>A (p.Ser238Asn) rs1060503111
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015
NM_000535.7(PMS2):c.720T>A (p.Ile240=) rs777148436
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala) rs779411667
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu) rs1554301523
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661
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.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
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.755G>A (p.Cys252Tyr) rs775445157
NM_000535.7(PMS2):c.759A>G (p.Glu253=) rs745720298
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.768T>C (p.Gly256=) rs876660396
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.771G>A (p.Leu257=) rs746652254
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.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp) 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.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.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186
NM_000535.7(PMS2):c.803+4A>G rs756312205
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047
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.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.831G>A (p.Thr277=) rs116481522
NM_000535.7(PMS2):c.832C>A (p.His278Asn) rs1554300796
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.847A>C (p.Ser283Arg) rs876660871
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.851del (p.Ser283_Ser284insTer) rs876658964
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.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.862_863del (p.Gln288fs) rs63750246
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.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.87G>A (p.Gly29=) rs876659642
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.886C>T (p.Pro296Ser) rs375553553
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
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.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.902A>C (p.Lys301Thr) rs1554300696
NM_000535.7(PMS2):c.903+4T>A rs753803330
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>C rs587781339
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143
NM_000535.7(PMS2):c.915C>G (p.Leu305=) rs767392742
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.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>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs) rs1554299430
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660
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>G (p.Tyr313Cys) 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.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) 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.953A>G (p.Tyr318Cys) rs139438201
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.971A>C (p.Asn324Thr) rs1554299388
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.989-5C>T rs1401221727
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.993C>T (p.Cys331=) rs186577215
NM_000535.7(PMS2):c.9A>G (p.Arg3=) rs1554309048

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