NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000535.7(PMS2):c.2007-4G>A
|
rs1805326
|
0.12350
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)
|
rs769554577
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.412G>C (p.Asp138His)
|
rs863224678
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
NM_000535.7(PMS2):c.868T>G (p.Phe290Val)
|
rs587782833
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg)
|
rs587781918
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.354-7C>T
|
rs758471869
|
0.00001
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)
|
rs563433235
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.7(PMS2):c.1009dup (p.Thr337fs)
|
rs1214597671
|
|
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
|
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1G>T
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1144+2T>G
|
|
|
NM_000535.7(PMS2):c.1145-2A>G
|
rs1325835006
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
|
|
|
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
|
|
|
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)
|
rs3209663
|
|
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
|
|
|
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
|
|
|
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
|
|
|
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter)
|
rs1562635799
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
|
|
|
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
|
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)
|
rs759192470
|
|
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
|
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln)
|
rs1060503135
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
|
|
|
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1485dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1486dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.149del (p.Gly50fs)
|
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
|
|
|
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
|
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1579del (p.Arg527fs)
|
rs1554297523
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs)
|
rs2128726933
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
NM_000535.7(PMS2):c.163+1G>T
|
rs1064795705
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.164-1G>T
|
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs)
|
rs1064795345
|
|
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.1694T>A (p.Leu565Ter)
|
|
|
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)
|
rs1554297342
|
|
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
|
|
|
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
|
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
|
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1737del (p.Phe579fs)
|
rs1782994894
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831delinsTT (p.Ile611fs)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1845del (p.Val616fs)
|
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1867del (p.Ser623fs)
|
|
|
NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer)
|
rs1554297153
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)
|
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1924del (p.Glu642fs)
|
rs2128721171
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
|
|
|
NM_000535.7(PMS2):c.1933del (p.Tyr645fs)
|
|
|
NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)
|
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)
|
rs1172837844
|
|
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.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2006+1G>A
|
rs1554297040
|
|
NM_000535.7(PMS2):c.2006_2006+4del
|
rs771928911
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2007-1G>C
|
|
|
NM_000535.7(PMS2):c.2007-1_2009del
|
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC
|
rs1562616355
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
|
|
|
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
|
|
|
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
|
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.2148del (p.Val717fs)
|
|
|
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
|
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
|
|
|
NM_000535.7(PMS2):c.2174+1G>C
|
rs267608172
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2175-11G>T
|
rs538914402
|
|
NM_000535.7(PMS2):c.2175-1G>A
|
|
|
NM_000535.7(PMS2):c.2175-1G>C
|
rs1562605623
|
|
NM_000535.7(PMS2):c.2175-2A>G
|
|
|
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)
|
rs786202202
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
|
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
|
|
|
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
|
rs1583285552
|
|
NM_000535.7(PMS2):c.2275+1G>A
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>T
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.23+6C>T
|
rs779104357
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
|
|
|
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
|
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
|
|
|
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
|
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
|
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
|
|
|
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)
|
rs1433888137
|
|
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)
|
rs1554293839
|
|
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
|
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.24-1G>A
|
rs1785723689
|
|
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
|
|
|
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)
|
rs587779338
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2450del (p.Met817fs)
|
|
|
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.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
|
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.251-1G>C
|
|
|
NM_000535.7(PMS2):c.251-1G>T
|
rs764171734
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)
|
rs1554292787
|
|
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
|
|
|
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
|
|
|
NM_000535.7(PMS2):c.2529del (p.His845fs)
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
|
|
|
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)
|
rs1781486223
|
|
NM_000535.7(PMS2):c.261_265del (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.262dup (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
|
|
|
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.312del (p.Phe104fs)
|
rs1785372371
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.33del (p.Ala12fs)
|
rs1554306605
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr)
|
rs587781913
|
|
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
|
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
|
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>T (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.407del (p.Met136fs)
|
|
|
NM_000535.7(PMS2):c.42del (p.Ile15fs)
|
rs2128846824
|
|
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)
|
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
|
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
|
|
NM_000535.7(PMS2):c.512del (p.Lys171fs)
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
NM_000535.7(PMS2):c.525_534del (p.Asn176fs)
|
rs1785187053
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.538-2A>T
|
|
|
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
|
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
|
|
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
|
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
|
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.663del (p.Ser222fs)
|
rs2128799910
|
|
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.705+1G>A
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.706-4dup
|
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.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.735dup (p.Pro246fs)
|
rs2128788145
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
|
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.750del (p.Val251fs)
|
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)
|
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
|
|
|
NM_000535.7(PMS2):c.767del (p.Gly256fs)
|
|
|
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
|
|
|
NM_000535.7(PMS2):c.781del (p.Asp261fs)
|
|
|
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.790_803+5del
|
|
|
NM_000535.7(PMS2):c.793_803+7del
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+2T>G
|
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.804-11A>G
|
|
|
NM_000535.7(PMS2):c.804-12A>G
|
rs1221537446
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.870del (p.Phe291fs)
|
rs1784299649
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>T
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
|
NM_000535.7(PMS2):c.903G>A (p.Lys301=)
|
rs267608153
|
|
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
|
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.904-1G>A
|
rs779064342
|
|
NM_000535.7(PMS2):c.904-2A>C
|
rs587781339
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
|
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.972del (p.Asn324fs)
|
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.988+1G>C
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
NM_000535.7(PMS2):c.989-1G>C
|
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|