NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.736_740del (p.Leu245_Pro246insTer)
|
rs778352959
|
0.00006
|
NM_000535.7(PMS2):c.741_742insGTGTGTGAAG (p.Ser248fs)
|
rs756653193
|
0.00006
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
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.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
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.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000535.6(PMS2):c.1688_1732del45ins46 (p.?)
|
|
|
NM_000535.6:c.354_988del
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1068del (p.Thr357fs)
|
rs1554298741
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
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.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1154del (p.Ile385fs)
|
rs2128737282
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
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.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter)
|
rs587780724
|
|
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.142del (p.Asp48fs)
|
rs1064794173
|
|
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)
|
rs876660459
|
|
NM_000535.7(PMS2):c.1532del (p.Thr511fs)
|
rs1554297636
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
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.1699C>T (p.Gln567Ter)
|
rs1554297342
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1861del (p.Ser621fs)
|
rs2128722209
|
|
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.1874_1877delinsAGG (p.Leu625_Ala626delinsTer)
|
rs1554297153
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
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.2005del (p.Ser669fs)
|
rs773174603
|
|
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
|
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
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.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2174+1133_*93del
|
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
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.2275+1G>A
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2327G>A (p.Trp776Ter)
|
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2445+1601_*3del
|
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2446-440_*2del
|
rs2128656484
|
|
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del)
|
rs1554292684
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2492_2493del (p.Ile831fs)
|
rs2128658402
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
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.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.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.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>C (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.510del (p.His170fs)
|
rs1064793365
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
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.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG
|
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.790_803+5del
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
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.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.989-1G>A
|
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|