NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000535.7(PMS2):c.705+17A>G
|
rs62456182
|
0.33782
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000535.7(PMS2):c.538-223A>G
|
rs2345060
|
0.21434
|
NM_000535.5(PMS2):c.-154C>G
|
rs3735296
|
0.16495
|
NM_000535.7(PMS2):c.804-243G>A
|
rs2286680
|
0.16082
|
NM_000535.7(PMS2):c.1621= (p.Lys541=)
|
rs2228006
|
0.13518
|
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.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_000535.5(PMS2):c.-195T>C
|
rs2302336
|
0.04915
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_000535.7(PMS2):c.288C>T (p.Ala96=)
|
rs12532895
|
0.03944
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000535.7(PMS2):c.251-72A>G
|
rs117831773
|
0.02449
|
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.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
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.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
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.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
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.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
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.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
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.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.705+12C>T
|
rs368486366
|
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.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
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.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1398C>T (p.Gly466=)
|
rs752666485
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
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.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NC_000007.14:g.(?_5991973)_(5999275_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6002636_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6006031_?)del
|
|
|
NC_000007.14:g.(?_5997326)_(6004058_?)del
|
|
|
NC_000007.14:g.(?_6003690)_(6004058_?)del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_23+?del
|
|
|
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
|
|
|
NM_000535.5(PMS2):c.-93G>A
|
rs6976537
|
|
NM_000535.5(PMS2):c.1145-1350_*20545del
|
|
|
NM_000535.5(PMS2):c.354-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.538-?_903+?del
|
|
|
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
|
|
|
NM_000535.5(PMS2):c.804-?_2006+?del
|
|
|
NM_000535.5(PMS2):c.904-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.904-?_1144+?del
|
|
|
NM_000535.5(PMS2):c.989-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.989-?_1144+?del
|
|
|
NM_000535.6(PMS2):c.-48C>A
|
rs886062402
|
|
NM_000535.6(PMS2):c.-87_537+?del
|
|
|
NM_000535.6(PMS2):c.-93G>T
|
rs6976537
|
|
NM_000535.6(PMS2):c.1145-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.6(PMS2):c.164-?_2006+?del
|
|
|
NM_000535.6(PMS2):c.2007-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.2276-?_*160+?del
|
|
|
NM_000535.6(PMS2):c.2276-?_2445+?del
|
|
|
NM_000535.6(PMS2):c.24-?_163+?del
|
|
|
NM_000535.6(PMS2):c.354-?_803+?del
|
|
|
NM_000535.6(PMS2):c.706-?_803+?del
|
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.6(PMS2):c.804-?_903+?del
|
|
|
NM_000535.6(PMS2):c.904-?_988+?del
|
|
|
NM_000535.7(PMS2):c.*92dup
|
rs267608145
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1144+5del
|
rs878854032
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys)
|
rs1562637166
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1185del (p.Met396fs)
|
rs786204104
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly)
|
rs1562701448
|
|
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)
|
rs876661186
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly)
|
rs1562634610
|
|
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)
|
rs1562633331
|
|
NM_000535.7(PMS2):c.1351del (p.Arg451fs)
|
rs1562634268
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
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.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-2A>G
|
rs587779324
|
|
NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val)
|
rs878854039
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
NM_000535.7(PMS2):c.195T>C (p.Leu65=)
|
rs780080040
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)
|
rs1562615666
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)
|
rs1456057054
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2276-113_2445+1596del
|
|
|
NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
|
NM_000535.7(PMS2):c.23+21_23+28del
|
rs1554308880
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
NM_000535.7(PMS2):c.250+8G>A
|
rs1057520511
|
|
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.251-2A>G
|
rs587779340
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.475G>C (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.537G>A (p.Lys179=)
|
rs864622074
|
|
NM_000535.7(PMS2):c.538-478_705+456del
|
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
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+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
|
rs2128775362
|
|
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.890G>C (p.Cys297Ser)
|
rs869312802
|
|
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.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.989-3T>C
|
rs1156325177
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
Single allele
|
|
|