NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
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.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
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.1411C>T (p.Gln471Ter)
|
rs63751228
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)
|
rs878854037
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
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.2382dup (p.Gly795fs)
|
rs1231406078
|
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.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
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.593dup (p.Arg199fs)
|
rs267608148
|
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.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NC_000007.13:g.(6029587_6031603)_(6042268_6043320)del
|
|
|
NC_000007.13:g.(6031689_6035164)_(6038907_6042083)del
|
|
|
NC_000007.13:g.(?_6010555)_(6027252_6029430)del
|
|
|
NC_000007.13:g.(?_6013020)_6031698del
|
|
|
NC_000007.13:g.(?_6013030)_(6017398_?)del
|
|
|
NC_000007.13:g.(?_6013030)_(6017408_?)del
|
|
|
NC_000007.13:g.(?_6013030)_(6018337_?)del
|
|
|
NC_000007.13:g.(?_6018217)_(6022632_?)del
|
|
|
NC_000007.13:g.(?_6022445)_(6022632_?)del
|
|
|
NC_000007.13:g.(?_6022449)_(6022628_?)del
|
|
|
NC_000007.13:g.(?_6026370)_(6037074_?)del
|
|
|
NC_000007.13:g.(?_6026380)_(6038916_?)del
|
|
|
NC_000007.13:g.(?_6026380)_(6042277_?)del
|
|
|
NC_000007.13:g.(?_6026380)_(6043699_?)del
|
|
|
NC_000007.13:g.(?_6026384)_(6027257_?)del
|
|
|
NC_000007.13:g.(?_6026815)_(6032194_?)del
|
|
|
NC_000007.13:g.(?_6031594)_(6037064_?)del
|
|
|
NC_000007.13:g.(?_6035155)_(6043699_?)del
|
|
|
NC_000007.13:g.(?_6042074)_(6042321_?)del
|
|
|
NC_000007.13:g.6035323_6035324insSVA
|
|
|
NC_000007.14:g.(5987621_5989799)_(5989956_5991972)del
|
|
|
NC_000007.14:g.(5987621_5989799)_(5992058_5995533)del
|
|
|
NC_000007.14:g.(?_5970924)_(6009107_?)del
|
|
|
NC_000007.14:g.(?_5973389)_(5973552_?)del
|
|
|
NC_000007.14:g.(?_5973389)_(5983001_?)del
|
|
|
NC_000007.14:g.(?_5973393)_(5973548_?)del
|
|
|
NC_000007.14:g.(?_5973393)_(5982997_?)del
|
|
|
NC_000007.14:g.(?_5973399)_(5973552_?)del
|
|
|
NC_000007.14:g.(?_5973399)_(5983001_?)del
|
|
|
NC_000007.14:g.(?_5977578)_(5977767_?)del
|
|
|
NC_000007.14:g.(?_5977578)_(5978706_?)del
|
|
|
NC_000007.14:g.(?_5977578)_(5983001_?)del
|
|
|
NC_000007.14:g.(?_5977582)_(5977763_?)del
|
|
|
NC_000007.14:g.(?_5977582)_(5982997_?)del
|
|
|
NC_000007.14:g.(?_5978586)_(5978706_?)del
|
|
|
NC_000007.14:g.(?_5986749)_(5987630_?)del
|
|
|
NC_000007.14:g.(?_5986749)_(5989965_?)del
|
|
|
NC_000007.14:g.(?_5986749)_(5992067_?)del
|
|
|
NC_000007.14:g.(?_5986749)_(5995643_?)del
|
|
|
NC_000007.14:g.(?_5986749)_(5997433_?)del
|
|
|
NC_000007.14:g.(?_5986749)_(6009116_?)del
|
|
|
NC_000007.14:g.(?_5986753)_(5992063_?)del
|
|
|
NC_000007.14:g.(?_5986753)_(5997429_?)del
|
|
|
NC_000007.14:g.(?_5986753)_(6002642_?)del
|
|
|
NC_000007.14:g.(?_5989790)_(5989965_?)del
|
|
|
NC_000007.14:g.(?_5989790)_(5992067_?)del
|
|
|
NC_000007.14:g.(?_5989790)_(5995643_?)del
|
|
|
NC_000007.14:g.(?_5989790)_(6009029_?)del
|
|
|
NC_000007.14:g.(?_5991963)_(5999285_?)del
|
|
|
NC_000007.14:g.(?_5991963)_(6002646_?)del
|
|
|
NC_000007.14:g.(?_5991963)_(6006041_?)del
|
|
|
NC_000007.14:g.(?_5991967)_(5997429_?)del
|
|
|
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.(?_5995524)_(5995643_?)del
|
|
|
NC_000007.14:g.(?_5995524)_(5997433_?)del
|
|
|
NC_000007.14:g.(?_5995524)_(5999285_?)del
|
|
|
NC_000007.14:g.(?_5995528)_(5995639_?)del
|
|
|
NC_000007.14:g.(?_5997316)_(5997433_?)del
|
|
|
NC_000007.14:g.(?_5997316)_(5999285_?)del
|
|
|
NC_000007.14:g.(?_5997316)_(6006041_?)del
|
|
|
NC_000007.14:g.(?_5997326)_(6004058_?)del
|
|
|
NC_000007.14:g.(?_5999098)_(5999285_?)del
|
|
|
NC_000007.14:g.(?_5999098)_(6006041_?)del
|
|
|
NC_000007.14:g.(?_6002443)_(6004068_?)del
|
|
|
NC_000007.14:g.(?_6002447)_(6004064_?)del
|
|
|
NC_000007.14:g.(?_6003680)_(6004068_?)del
|
|
|
NC_000007.14:g.(?_6003680)_(6006041_?)del
|
|
|
NC_000007.14:g.(?_6003690)_(6004058_?)del
|
|
|
NC_000007.14:g.(?_6005882)_(6006041_?)del
|
|
|
NC_000007.14:g.(?_6005886)_(6006037_?)del
|
|
|
NC_000007.14:g.(?_6008987)_(6009029_?)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.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.904-10_*10del
|
|
|
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_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
|
|
|
NM_000535.6(PMS2):c.-87_537+?del
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.6(PMS2):c.164-?_2006+?del
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
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_000535.6:c.(803+1_804-1)_(903+1_904-1)del
|
|
|
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.1027del (p.Ile343fs)
|
rs1562644987
|
|
NM_000535.7(PMS2):c.1035dup (p.Gln346fs)
|
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
|
|
|
NM_000535.7(PMS2):c.1053del (p.Leu351fs)
|
rs1554298756
|
|
NM_000535.7(PMS2):c.1064T>G (p.Leu355Ter)
|
rs1783532593
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1068del (p.Thr357fs)
|
rs1554298741
|
|
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.1145-1_2006+2del
|
rs2128719778
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1154del (p.Ile385fs)
|
rs2128737282
|
|
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
|
|
|
NM_000535.7(PMS2):c.1159del (p.Met387fs)
|
rs2128737155
|
|
NM_000535.7(PMS2):c.1160dup (p.Met387fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)
|
rs1243063129
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1185del (p.Met396fs)
|
rs786204104
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1210_1211del (p.Pro404fs)
|
rs2128736116
|
|
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.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
|
|
|
NM_000535.7(PMS2):c.122del (p.Glu41fs)
|
|
|
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
|
|
|
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del)
|
rs267608159
|
|
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.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter)
|
rs587782175
|
|
NM_000535.7(PMS2):c.1264del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1273_1274insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGCCTTTT (p.Ser425delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
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.12dup (p.Glu5Ter)
|
rs1282857832
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.130G>T (p.Glu44Ter)
|
rs786202669
|
|
NM_000535.7(PMS2):c.1313dup (p.Thr439fs)
|
rs1562634737
|
|
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)
|
rs876661256
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
|
|
|
NM_000535.7(PMS2):c.1356del (p.Met453fs)
|
rs1783123619
|
|
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
|
rs1583320992
|
|
NM_000535.7(PMS2):c.1375del (p.Ser459fs)
|
rs1783113930
|
|
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.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)
|
rs1562633172
|
|
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
|
|
|
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs)
|
rs1554297764
|
|
NM_000535.7(PMS2):c.142del (p.Asp48fs)
|
rs1064794173
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter)
|
rs587782602
|
|
NM_000535.7(PMS2):c.1485dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1486dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)
|
rs876660459
|
|
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.1515del (p.Phe506fs)
|
rs1583319050
|
|
NM_000535.7(PMS2):c.1532del (p.Thr511fs)
|
rs1554297636
|
|
NM_000535.7(PMS2):c.1537del (p.Ser513fs)
|
|
|
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
|
|
|
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
|
rs1583318494
|
|
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1559del (p.Ala520fs)
|
rs1554297564
|
|
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
|
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
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.1587dup (p.Gln530fs)
|
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1595_1596del (p.His532fs)
|
|
|
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.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1672del (p.Thr558fs)
|
rs1562629003
|
|
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.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.1709dup (p.Asn570fs)
|
rs1783004175
|
|
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.172_173del (p.Lys57_Leu58insTer)
|
rs1785429855
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
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.1744_1745del (p.Glu582fs)
|
rs1782992250
|
|
NM_000535.7(PMS2):c.1746del (p.Glu583fs)
|
rs1554297285
|
|
NM_000535.7(PMS2):c.1750del (p.Ile584fs)
|
rs864622600
|
|
NM_000535.7(PMS2):c.1750dup (p.Ile584fs)
|
rs864622600
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.176del (p.Lys59fs)
|
rs1785429311
|
|
NM_000535.7(PMS2):c.176dup (p.Asp60fs)
|
|
|
NM_000535.7(PMS2):c.1774C>T (p.Gln592Ter)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
|
|
|
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter)
|
rs1782978316
|
|
NM_000535.7(PMS2):c.1800del (p.Met600fs)
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.180del (p.Tyr61fs)
|
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.1826_1827del (p.Val609fs)
|
|
|
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.1842dup (p.Val615fs)
|
rs1782962828
|
|
NM_000535.7(PMS2):c.1845del (p.Val616fs)
|
|
|
NM_000535.7(PMS2):c.1853del (p.Leu618fs)
|
|
|
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.1885del (p.Arg628_Ile629insTer)
|
rs1782949480
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs)
|
rs1562626204
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1897del (p.His633fs)
|
rs1782947222
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)
|
rs1562626011
|
|
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter)
|
rs764342199
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1915del (p.Ser639fs)
|
|
|
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.1959T>A (p.Cys653Ter)
|
rs1554297082
|
|
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.198_213del (p.Ile66fs)
|
rs1785420264
|
|
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.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2007dup (p.Lys670Ter)
|
|
|
NM_000535.7(PMS2):c.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)
|
rs1583299686
|
|
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
|
|
|
NM_000535.7(PMS2):c.2039del (p.Gly680fs)
|
|
|
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
|
rs1782465728
|
|
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.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2098C>T (p.Gln700Ter)
|
|
|
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2118_2120dup (p.Tyr707Ter)
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs)
|
rs1562614946
|
|
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.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
|
|
|
NM_000535.7(PMS2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_000535.7(PMS2):c.2174+1G>C
|
rs267608172
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
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.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.2208del (p.Ala737fs)
|
rs2128683310
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
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.2249del (p.Gly750fs)
|
rs1583285552
|
|
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter)
|
rs1583285344
|
|
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.2276-113_2445+1596del
|
|
|
NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
|
|
|
NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer)
|
rs1554293959
|
|
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
|
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.232_235del (p.Glu78fs)
|
rs1583410315
|
|
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
|
|
|
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
|
|
|
NM_000535.7(PMS2):c.2339_2343del (p.Pro780fs)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
|
|
|
NM_000535.7(PMS2):c.2341dup (p.Gln781fs)
|
rs2128674468
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2357_2445+510del
|
rs1562598658
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
|
|
|
NM_000535.7(PMS2):c.2380_2381dup (p.Gly795fs)
|
rs2128673214
|
|
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
|
|
|
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.2399dup (p.Ser801fs)
|
|
|
NM_000535.7(PMS2):c.239_242dup (p.Glu81fs)
|
rs2128829368
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
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>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2450del (p.Met817fs)
|
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
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.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.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.2515_2517delinsAGTT (p.His839fs)
|
rs2128657907
|
|
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
|
|
|
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)
|
rs876661203
|
|
NM_000535.7(PMS2):c.2523del (p.Pro840_Trp841insTer)
|
|
|
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
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.285delinsAAGATTCAA (p.Phe95fs)
|
|
|
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.2_3delinsA (p.Met1fs)
|
|
|
NM_000535.7(PMS2):c.308del (p.Thr103fs)
|
|
|
NM_000535.7(PMS2):c.312del (p.Phe104fs)
|
rs1785372371
|
|
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
|
|
|
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.345_346del (p.Ala116fs)
|
rs1785363766
|
|
NM_000535.7(PMS2):c.349_350del (p.Leu117fs)
|
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
|
|
|
NM_000535.7(PMS2):c.367dup (p.Ser123fs)
|
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.380dup (p.Ser128fs)
|
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
|
|
|
NM_000535.7(PMS2):c.391del (p.Val131fs)
|
rs2128818786
|
|
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>C (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.427del (p.Ile143fs)
|
|
|
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.451dup (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452_456del (p.Arg151fs)
|
rs2128817368
|
|
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.457A>T (p.Arg153Ter)
|
|
|
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.481C>T (p.Gln161Ter)
|
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
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.514G>T (p.Glu172Ter)
|
|
|
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.525del (p.Asn176fs)
|
rs2128815756
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.537+1G>T
|
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.537+2T>C
|
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.538-478_705+456del
|
|
|
NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter)
|
rs1583387894
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.547A>T (p.Lys183Ter)
|
|
|
NM_000535.7(PMS2):c.54del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.550del (p.Met184fs)
|
|
|
NM_000535.7(PMS2):c.564dup (p.His189fs)
|
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
|
|
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)
|
rs761134229
|
|
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.630del (p.Lys210fs)
|
rs1784806713
|
|
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
|
|
|
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.648C>A (p.Cys216Ter)
|
rs762387250
|
|
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.66_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.673G>T (p.Glu225Ter)
|
rs1562677770
|
|
NM_000535.7(PMS2):c.686_687del (p.Ser229fs)
|
rs746766787
|
|
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.691_694del (p.Phe231fs)
|
rs1784787989
|
|
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.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.710_714del (p.Gln237fs)
|
rs1784546407
|
|
NM_000535.7(PMS2):c.713del (p.Ser238fs)
|
rs2128788650
|
|
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.732del (p.Gln244fs)
|
rs2128788235
|
|
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.741_742insGTGTGAAG (p.Ser248delinsValTer)
|
|
|
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter)
|
rs756653193
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
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.779_780delinsAG (p.Ser260Ter)
|
rs730881920
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.781del (p.Asp261fs)
|
|
|
NM_000535.7(PMS2):c.787del (p.Leu263fs)
|
|
|
NM_000535.7(PMS2):c.796_797del (p.Leu266fs)
|
|
|
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.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.841G>T (p.Gly281Ter)
|
|
|
NM_000535.7(PMS2):c.846del (p.Ser283fs)
|
rs1057515571
|
|
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.852_855del (p.Arg287fs)
|
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.859dup (p.Arg287fs)
|
rs1554300763
|
|
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.902dup (p.Val302fs)
|
rs1784291698
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
|
|
|
NM_000535.7(PMS2):c.92_99del (p.Val31fs)
|
rs2128845440
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.947_948del (p.His316fs)
|
rs878854060
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.954T>A (p.Tyr318Ter)
|
rs2128755485
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.972del (p.Asn324fs)
|
|
|
NM_000535.7(PMS2):c.986C>A (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.987dup (p.Glu330fs)
|
rs2128754982
|
|
NM_000535.7(PMS2):c.989-1G>A
|
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
|
|
|
NM_000535.7:c.804-70_2445+71del
|
|
|
Single allele
|
|
|