NM_001005242.3(PKP2):c.2013+45G>A
|
rs10772008
|
0.73962
|
NM_001005242.3(PKP2):c.*1431G>A
|
rs1046150
|
0.62602
|
NM_001005242.3(PKP2):c.*1196G>A
|
rs1046138
|
0.61624
|
NM_001005242.3(PKP2):c.*251C>G
|
rs12612
|
0.61058
|
NM_001005242.3(PKP2):c.*812C>T
|
rs9394
|
0.50975
|
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)
|
rs1046116
|
0.20181
|
NM_001005242.3(PKP2):c.2357+13_2357+14insC
|
rs149968852
|
0.19813
|
NM_001005242.3(PKP2):c.2168-21del
|
rs57690055
|
0.18222
|
NM_001005242.3(PKP2):c.2167+7C>T
|
rs74072938
|
0.06473
|
NM_001005242.3(PKP2):c.*1271G>C
|
rs12314796
|
0.05196
|
NM_001005242.3(PKP2):c.*1563G>T
|
rs1046154
|
0.05190
|
NM_001005242.3(PKP2):c.-22C>G
|
rs373925978
|
0.02916
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)
|
rs62001016
|
0.01013
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
NM_001005242.3(PKP2):c.*646G>A
|
rs144983891
|
0.00577
|
NM_001005242.3(PKP2):c.*202C>T
|
rs77988382
|
0.00472
|
NM_001005242.3(PKP2):c.*281A>G
|
rs78540632
|
0.00463
|
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=)
|
rs142742483
|
0.00423
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_004572.3(PKP2):c.-90G>T
|
rs552373947
|
0.00300
|
NM_001005242.3(PKP2):c.819G>A (p.Pro273=)
|
rs3748279
|
0.00266
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00239
|
NM_001005242.3(PKP2):c.*1394A>T
|
rs112547924
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_001005242.3(PKP2):c.939C>T (p.Ser313=)
|
rs61729381
|
0.00229
|
NM_001005242.3(PKP2):c.*683T>C
|
rs144110140
|
0.00224
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
NM_001005242.3(PKP2):c.1379-18A>G
|
rs113698150
|
0.00207
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
NM_001005242.3(PKP2):c.951G>A (p.Ala317=)
|
rs61729382
|
0.00195
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)
|
rs151264959
|
0.00148
|
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)
|
rs139851304
|
0.00142
|
NM_004572.3(PKP2):c.-99T>C
|
rs565997897
|
0.00098
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_001005242.3(PKP2):c.*1246C>T
|
rs187618849
|
0.00064
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
NM_001005242.3(PKP2):c.2168-6T>C
|
rs368531764
|
0.00051
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=)
|
rs146144731
|
0.00030
|
NM_001005242.3(PKP2):c.696C>T (p.Asp232=)
|
rs375677250
|
0.00026
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001005242.3(PKP2):c.*330A>G
|
rs375759731
|
0.00023
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
NM_001005242.3(PKP2):c.*110T>G
|
rs575103888
|
0.00022
|
NM_001005242.3(PKP2):c.198G>A (p.Arg66=)
|
rs144106848
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001005242.3(PKP2):c.*22G>A
|
rs371003054
|
0.00021
|
NM_001005242.3(PKP2):c.*839C>T
|
rs542578192
|
0.00018
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
NM_001005242.3(PKP2):c.1379-2068C>T
|
rs377424658
|
0.00016
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=)
|
rs369166666
|
0.00015
|
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)
|
rs757285245
|
0.00015
|
NM_001005242.3(PKP2):c.1171-17A>G
|
rs372942306
|
0.00014
|
NM_001005242.3(PKP2):c.1379-2006C>T
|
rs1460366599
|
0.00014
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=)
|
rs143782040
|
0.00013
|
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
|
rs138901574
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)
|
rs143954425
|
0.00012
|
NM_001005242.3(PKP2):c.*303A>G
|
rs148693924
|
0.00011
|
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=)
|
rs3748278
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
NM_001005242.3(PKP2):c.*932C>A
|
rs766792445
|
0.00010
|
NM_001005242.3(PKP2):c.45C>T (p.Thr15=)
|
rs759214983
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_001005242.3(PKP2):c.1379-2065G>A
|
rs771856087
|
0.00009
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001005242.3(PKP2):c.996G>A (p.Leu332=)
|
rs144574595
|
0.00009
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys)
|
rs200411128
|
0.00007
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
NM_001005242.3(PKP2):c.927C>T (p.Ala309=)
|
rs200152448
|
0.00007
|
NM_001005242.3(PKP2):c.*215G>A
|
rs886049318
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr)
|
rs201487421
|
0.00006
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)
|
rs750119363
|
0.00006
|
NM_001005242.3(PKP2):c.486G>A (p.Thr162=)
|
rs189040311
|
0.00006
|
NM_001005242.3(PKP2):c.900G>A (p.Thr300=)
|
rs140235564
|
0.00006
|
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg)
|
rs779173447
|
0.00006
|
NM_001005242.3(PKP2):c.1137C>T (p.His379=)
|
rs754927123
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.123G>T (p.Ala41=)
|
rs757273590
|
0.00005
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
NM_001005242.3(PKP2):c.1379-1960T>C
|
rs1028861380
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met)
|
rs774942476
|
0.00005
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001005242.3(PKP2):c.576G>A (p.Pro192=)
|
rs373380483
|
0.00005
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
NM_001005242.3(PKP2):c.899C>A (p.Thr300Lys)
|
rs553098424
|
0.00005
|
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)
|
rs201803918
|
0.00005
|
NM_001005242.3(PKP2):c.*41G>A
|
rs754465954
|
0.00004
|
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)
|
rs144401285
|
0.00004
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln)
|
rs200715477
|
0.00004
|
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)
|
rs397516991
|
0.00004
|
NM_001005242.3(PKP2):c.1378+18T>C
|
rs374266697
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1967_1379-1966del
|
rs1491439367
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1968C>G
|
rs754530494
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2020G>A
|
rs1415117420
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
|
rs200343561
|
0.00004
|
NM_001005242.3(PKP2):c.1556+18C>G
|
rs370617388
|
0.00004
|
NM_001005242.3(PKP2):c.1575C>T (p.Gly525=)
|
rs780049494
|
0.00004
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=)
|
rs397517006
|
0.00004
|
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)
|
rs775103879
|
0.00004
|
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)
|
rs779926314
|
0.00004
|
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala)
|
rs751965920
|
0.00004
|
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)
|
rs727505293
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg)
|
rs200844640
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
NM_001005242.3(PKP2):c.213C>T (p.Ser71=)
|
rs1173618581
|
0.00004
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)
|
rs372263407
|
0.00004
|
NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)
|
rs775572104
|
0.00004
|
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)
|
rs759377911
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001005242.3(PKP2):c.468G>A (p.Pro156=)
|
rs756166702
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)
|
rs766379716
|
0.00004
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val)
|
rs775318947
|
0.00004
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
NM_001005242.3(PKP2):c.963C>T (p.Val321=)
|
rs202207343
|
0.00004
|
NM_001005242.3(PKP2):c.*227T>C
|
rs886049317
|
0.00003
|
NM_001005242.3(PKP2):c.1035-11del
|
rs1393167652
|
0.00003
|
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=)
|
rs397516984
|
0.00003
|
NM_001005242.3(PKP2):c.1379-2011G>A
|
rs140301552
|
0.00003
|
NM_001005242.3(PKP2):c.1379-2056C>T
|
rs749052785
|
0.00003
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)
|
rs763492084
|
0.00003
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
NM_001005242.3(PKP2):c.1557-1G>C
|
rs78897684
|
0.00003
|
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met)
|
rs373360192
|
0.00003
|
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)
|
rs533659697
|
0.00003
|
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)
|
rs751288871
|
0.00003
|
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)
|
rs375295635
|
0.00003
|
NM_001005242.3(PKP2):c.1948G>A (p.Val650Ile)
|
rs747525514
|
0.00003
|
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)
|
rs879210282
|
0.00003
|
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=)
|
rs371089832
|
0.00003
|
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser)
|
rs764645176
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg)
|
rs794729115
|
0.00003
|
NM_001005242.3(PKP2):c.2168-20T>G
|
rs759180353
|
0.00003
|
NM_001005242.3(PKP2):c.223G>A (p.Gly75Arg)
|
rs765852160
|
0.00003
|
NM_001005242.3(PKP2):c.224-8G>T
|
rs1486692885
|
0.00003
|
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln)
|
rs766802880
|
0.00003
|
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)
|
rs372729739
|
0.00003
|
NM_001005242.3(PKP2):c.2405C>T (p.Ser802Phe)
|
rs768808114
|
0.00003
|
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=)
|
rs747191995
|
0.00003
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
NM_001005242.3(PKP2):c.293T>C (p.Val98Ala)
|
rs775434969
|
0.00003
|
NM_001005242.3(PKP2):c.360A>G (p.Glu120=)
|
rs764868621
|
0.00003
|
NM_001005242.3(PKP2):c.591C>T (p.Ser197=)
|
rs769438623
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001005242.3(PKP2):c.*607A>C
|
rs187797390
|
0.00002
|
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)
|
rs199957846
|
0.00002
|
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser)
|
rs56869013
|
0.00002
|
NM_001005242.3(PKP2):c.1171-13G>A
|
rs200137461
|
0.00002
|
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys)
|
rs761238380
|
0.00002
|
NM_001005242.3(PKP2):c.1206G>A (p.Gln402=)
|
rs773905605
|
0.00002
|
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=)
|
rs1439169005
|
0.00002
|
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)
|
rs753912985
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2012C>T
|
rs760461056
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2103A>G
|
rs764608036
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001005242.3(PKP2):c.1483C>G (p.Pro495Ala)
|
rs543325231
|
0.00002
|
NM_001005242.3(PKP2):c.1510G>T (p.Gly504Cys)
|
rs374641292
|
0.00002
|
NM_001005242.3(PKP2):c.1556+7C>T
|
rs752585335
|
0.00002
|
NM_001005242.3(PKP2):c.1557-14G>T
|
rs748072057
|
0.00002
|
NM_001005242.3(PKP2):c.155A>G (p.Lys52Arg)
|
rs549598534
|
0.00002
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
NM_001005242.3(PKP2):c.1674+15A>C
|
rs749247141
|
0.00002
|
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln)
|
rs763648594
|
0.00002
|
NM_001005242.3(PKP2):c.1840-7T>C
|
rs1362643840
|
0.00002
|
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=)
|
rs760434776
|
0.00002
|
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=)
|
rs769943903
|
0.00002
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
|
rs776915959
|
0.00002
|
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)
|
rs758813231
|
0.00002
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln)
|
rs547215531
|
0.00002
|
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)
|
rs537046857
|
0.00002
|
NM_001005242.3(PKP2):c.2167+8G>A
|
rs371564682
|
0.00002
|
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)
|
rs543233804
|
0.00002
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
NM_001005242.3(PKP2):c.2358-19A>G
|
rs767272150
|
0.00002
|
NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala)
|
rs1183143350
|
0.00002
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)
|
rs199900632
|
0.00002
|
NM_001005242.3(PKP2):c.2454T>G (p.Phe818Leu)
|
rs1408272849
|
0.00002
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)
|
rs762825735
|
0.00002
|
NM_001005242.3(PKP2):c.361G>A (p.Gly121Ser)
|
rs1295581142
|
0.00002
|
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)
|
rs1193697338
|
0.00002
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
NM_001005242.3(PKP2):c.582T>C (p.Tyr194=)
|
rs532048791
|
0.00002
|
NM_001005242.3(PKP2):c.587G>A (p.Arg196His)
|
rs146566525
|
0.00002
|
NM_001005242.3(PKP2):c.600G>A (p.Val200=)
|
rs781305034
|
0.00002
|
NM_001005242.3(PKP2):c.602G>A (p.Gly201Glu)
|
rs757316313
|
0.00002
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
NM_001005242.3(PKP2):c.687C>T (p.Thr229=)
|
rs1209406571
|
0.00002
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
NM_001005242.3(PKP2):c.804C>T (p.Val268=)
|
rs781271804
|
0.00002
|
NM_001005242.3(PKP2):c.818C>T (p.Pro273Leu)
|
rs878943755
|
0.00002
|
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr)
|
rs148480056
|
0.00002
|
NM_001005242.3(PKP2):c.978A>G (p.Ala326=)
|
rs775137004
|
0.00002
|
NM_001005242.3(PKP2):c.1024T>C (p.Ser342Pro)
|
rs563797120
|
0.00001
|
NM_001005242.3(PKP2):c.1025C>T (p.Ser342Phe)
|
rs1282672078
|
0.00001
|
NM_001005242.3(PKP2):c.1034+10C>T
|
rs759397762
|
0.00001
|
NM_001005242.3(PKP2):c.1035-9T>C
|
rs1057522716
|
0.00001
|
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter)
|
rs754912778
|
0.00001
|
NM_001005242.3(PKP2):c.1069G>A (p.Val357Met)
|
rs766334171
|
0.00001
|
NM_001005242.3(PKP2):c.1086A>G (p.Ala362=)
|
rs376167178
|
0.00001
|
NM_001005242.3(PKP2):c.1091A>T (p.His364Leu)
|
rs763114466
|
0.00001
|
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile)
|
rs770333863
|
0.00001
|
NM_001005242.3(PKP2):c.1104C>T (p.Ser368=)
|
rs892666132
|
0.00001
|
NM_001005242.3(PKP2):c.1106G>A (p.Arg369Lys)
|
rs771293688
|
0.00001
|
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg)
|
rs781400459
|
0.00001
|
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val)
|
rs1565596114
|
0.00001
|
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr)
|
rs397516985
|
0.00001
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln)
|
rs756000218
|
0.00001
|
NM_001005242.3(PKP2):c.1171-2A>G
|
rs794729133
|
0.00001
|
NM_001005242.3(PKP2):c.1181T>A (p.Leu394His)
|
rs766842360
|
0.00001
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)
|
rs143397927
|
0.00001
|
NM_001005242.3(PKP2):c.1312G>A (p.Gly438Arg)
|
rs1956689163
|
0.00001
|
NM_001005242.3(PKP2):c.1321C>T (p.Arg441Trp)
|
rs755233999
|
0.00001
|
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=)
|
rs377076035
|
0.00001
|
NM_001005242.3(PKP2):c.1329C>G (p.Leu443=)
|
rs1365569704
|
0.00001
|
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr)
|
rs750897570
|
0.00001
|
NM_001005242.3(PKP2):c.136C>A (p.Arg46Ser)
|
rs764116301
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1983C>G
|
rs377000496
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2023C>T
|
rs587781108
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2028C>A
|
rs752119095
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2033G>A
|
rs757689437
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2044C>T
|
rs1420856333
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2051G>A
|
rs1408803372
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2055G>A
|
rs920363668
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2111C>T
|
rs1172703594
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2112A>G
|
rs367657856
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
NM_001005242.3(PKP2):c.1419T>C (p.Asn473=)
|
rs757126132
|
0.00001
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala)
|
rs775192286
|
0.00001
|
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=)
|
rs370753286
|
0.00001
|
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile)
|
rs780349259
|
0.00001
|
NM_001005242.3(PKP2):c.1476T>C (p.Ser492=)
|
rs751082209
|
0.00001
|
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn)
|
rs879068263
|
0.00001
|
NM_001005242.3(PKP2):c.149C>T (p.Thr50Ile)
|
rs1402887591
|
0.00001
|
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)
|
rs774778142
|
0.00001
|
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=)
|
rs148533214
|
0.00001
|
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=)
|
rs1320642436
|
0.00001
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu)
|
rs920017662
|
0.00001
|
NM_001005242.3(PKP2):c.1557-7del
|
rs1258853212
|
0.00001
|
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn)
|
rs776363973
|
0.00001
|
NM_001005242.3(PKP2):c.1604G>A (p.Cys535Tyr)
|
rs1956409874
|
0.00001
|
NM_001005242.3(PKP2):c.1641A>G (p.Arg547=)
|
rs1264399626
|
0.00001
|
NM_001005242.3(PKP2):c.165G>T (p.Arg55=)
|
rs1472609900
|
0.00001
|
NM_001005242.3(PKP2):c.1671del (p.Asp557fs)
|
rs794729129
|
0.00001
|
NM_001005242.3(PKP2):c.1674+13A>C
|
rs768698663
|
0.00001
|
NM_001005242.3(PKP2):c.1674+7C>G
|
rs868645170
|
0.00001
|
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)
|
rs773662874
|
0.00001
|
NM_001005242.3(PKP2):c.1711T>A (p.Ser571Thr)
|
rs768286281
|
0.00001
|
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter)
|
rs1486464304
|
0.00001
|
NM_001005242.3(PKP2):c.1748C>G (p.Ser583Cys)
|
rs769817013
|
0.00001
|
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr)
|
rs397517011
|
0.00001
|
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)
|
rs1060501183
|
0.00001
|
NM_001005242.3(PKP2):c.1762A>G (p.Ile588Val)
|
rs1169362109
|
0.00001
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn)
|
rs1354122232
|
0.00001
|
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)
|
rs727503370
|
0.00001
|
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter)
|
rs1158333072
|
0.00001
|
NM_001005242.3(PKP2):c.1840-10G>C
|
rs768000598
|
0.00001
|
NM_001005242.3(PKP2):c.1840-13T>C
|
rs533952272
|
0.00001
|
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)
|
rs762753884
|
0.00001
|
NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys)
|
rs193922673
|
0.00001
|
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr)
|
rs1956376395
|
0.00001
|
NM_001005242.3(PKP2):c.1920G>T (p.Arg640Ser)
|
rs760660042
|
0.00001
|
NM_001005242.3(PKP2):c.192C>A (p.Leu64=)
|
rs768376044
|
0.00001
|
NM_001005242.3(PKP2):c.1932C>T (p.Ser644=)
|
rs763042549
|
0.00001
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
NM_001005242.3(PKP2):c.1958A>G (p.Tyr653Cys)
|
rs778600610
|
0.00001
|
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro)
|
rs878854709
|
0.00001
|
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)
|
rs765884775
|
0.00001
|
NM_001005242.3(PKP2):c.2013+3G>A
|
rs1222272381
|
0.00001
|
NM_001005242.3(PKP2):c.2013+6_2013+9dup
|
rs768133889
|
0.00001
|
NM_001005242.3(PKP2):c.2014-12C>G
|
rs990954323
|
0.00001
|
NM_001005242.3(PKP2):c.2014-7A>G
|
rs1555141645
|
0.00001
|
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser)
|
rs757205704
|
0.00001
|
NM_001005242.3(PKP2):c.2030C>T (p.Ala677Val)
|
rs1359431679
|
0.00001
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly)
|
rs121434421
|
0.00001
|
NM_001005242.3(PKP2):c.212C>T (p.Ser71Phe)
|
rs796597346
|
0.00001
|
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)
|
rs767496004
|
0.00001
|
NM_001005242.3(PKP2):c.2168-5T>C
|
rs1227875716
|
0.00001
|
NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser)
|
rs1249551566
|
0.00001
|
NM_001005242.3(PKP2):c.2194T>C (p.Ser732Pro)
|
rs1114167346
|
0.00001
|
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)
|
rs556563706
|
0.00001
|
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)
|
rs1555141066
|
0.00001
|
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu)
|
rs758834771
|
0.00001
|
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)
|
rs753226330
|
0.00001
|
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys)
|
rs753180642
|
0.00001
|
NM_001005242.3(PKP2):c.224-11C>A
|
rs928408888
|
0.00001
|
NM_001005242.3(PKP2):c.224-4G>A
|
rs1186431446
|
0.00001
|
NM_001005242.3(PKP2):c.224-9T>C
|
rs1238184418
|
0.00001
|
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)
|
rs727504950
|
0.00001
|
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu)
|
rs267603443
|
0.00001
|
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)
|
rs1488359220
|
0.00001
|
NM_001005242.3(PKP2):c.2300G>A (p.Arg767His)
|
rs533884071
|
0.00001
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=)
|
rs139258347
|
0.00001
|
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)
|
rs768463319
|
0.00001
|
NM_001005242.3(PKP2):c.2358-6T>C
|
rs761613652
|
0.00001
|
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)
|
rs763663760
|
0.00001
|
NM_001005242.3(PKP2):c.2379T>C (p.Ser793=)
|
rs532024812
|
0.00001
|
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)
|
rs772225819
|
0.00001
|
NM_001005242.3(PKP2):c.2409G>A (p.Leu803=)
|
rs374689137
|
0.00001
|
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)
|
rs117425357
|
0.00001
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe)
|
rs751287217
|
0.00001
|
NM_001005242.3(PKP2):c.2445+9A>G
|
rs770027185
|
0.00001
|
NM_001005242.3(PKP2):c.2446-2A>C
|
rs1060501188
|
0.00001
|
NM_001005242.3(PKP2):c.2446-8T>C
|
rs794729101
|
0.00001
|
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu)
|
rs1235732912
|
0.00001
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
NM_001005242.3(PKP2):c.2471T>A (p.Val824Asp)
|
rs752195586
|
0.00001
|
NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp)
|
rs754873048
|
0.00001
|
NM_001005242.3(PKP2):c.2502C>T (p.Ser834=)
|
rs763095604
|
0.00001
|
NM_001005242.3(PKP2):c.298G>A (p.Gly100Ser)
|
rs769509055
|
0.00001
|
NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys)
|
rs1181973282
|
0.00001
|
NM_001005242.3(PKP2):c.301C>T (p.Arg101Cys)
|
rs796827562
|
0.00001
|
NM_001005242.3(PKP2):c.320C>T (p.Thr107Ile)
|
rs749774181
|
0.00001
|
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys)
|
rs763433296
|
0.00001
|
NM_001005242.3(PKP2):c.374G>A (p.Arg125Lys)
|
rs1278479150
|
0.00001
|
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter)
|
rs763303290
|
0.00001
|
NM_001005242.3(PKP2):c.39C>T (p.Ile13=)
|
rs770102631
|
0.00001
|
NM_001005242.3(PKP2):c.405C>T (p.Ser135=)
|
rs775423741
|
0.00001
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
NM_001005242.3(PKP2):c.414A>T (p.Glu138Asp)
|
rs771153426
|
0.00001
|
NM_001005242.3(PKP2):c.454C>T (p.Pro152Ser)
|
rs972806409
|
0.00001
|
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)
|
rs397517026
|
0.00001
|
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)
|
rs766360871
|
0.00001
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met)
|
rs759687672
|
0.00001
|
NM_001005242.3(PKP2):c.492C>T (p.Ser164=)
|
rs747582030
|
0.00001
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
NM_001005242.3(PKP2):c.498C>T (p.Tyr166=)
|
rs772439804
|
0.00001
|
NM_001005242.3(PKP2):c.525G>A (p.Gly175=)
|
rs748807540
|
0.00001
|
NM_001005242.3(PKP2):c.530C>A (p.Thr177Asn)
|
rs779467662
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001005242.3(PKP2):c.536A>G (p.His179Arg)
|
rs1371222715
|
0.00001
|
NM_001005242.3(PKP2):c.542A>C (p.Gln181Pro)
|
rs767358039
|
0.00001
|
NM_001005242.3(PKP2):c.553C>T (p.Arg185Trp)
|
rs571569344
|
0.00001
|
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln)
|
rs765477952
|
0.00001
|
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr)
|
rs200095747
|
0.00001
|
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)
|
rs748566573
|
0.00001
|
NM_001005242.3(PKP2):c.598G>A (p.Val200Met)
|
rs369923216
|
0.00001
|
NM_001005242.3(PKP2):c.610C>T (p.Arg204Cys)
|
rs777497296
|
0.00001
|
NM_001005242.3(PKP2):c.681C>T (p.Ser227=)
|
rs762263587
|
0.00001
|
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)
|
rs543281875
|
0.00001
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
NM_001005242.3(PKP2):c.720G>A (p.Leu240=)
|
rs777567315
|
0.00001
|
NM_001005242.3(PKP2):c.726G>A (p.Thr242=)
|
rs866886453
|
0.00001
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
NM_001005242.3(PKP2):c.748C>T (p.Arg250Cys)
|
rs577631447
|
0.00001
|
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met)
|
rs199701968
|
0.00001
|
NM_001005242.3(PKP2):c.788C>T (p.Thr263Met)
|
rs543758984
|
0.00001
|
NM_001005242.3(PKP2):c.830T>C (p.Leu277Pro)
|
rs772827289
|
0.00001
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile)
|
rs748148237
|
0.00001
|
NM_001005242.3(PKP2):c.854C>T (p.Ala285Val)
|
rs372664096
|
0.00001
|
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr)
|
rs1323074715
|
0.00001
|
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn)
|
rs753271708
|
0.00001
|
NM_001005242.3(PKP2):c.8C>T (p.Ala3Val)
|
rs1033569962
|
0.00001
|
NM_001005242.3(PKP2):c.903G>A (p.Leu301=)
|
rs934225556
|
0.00001
|
NM_001005242.3(PKP2):c.909A>G (p.Glu303=)
|
rs376001513
|
0.00001
|
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu)
|
rs146683466
|
0.00001
|
NM_001005242.3(PKP2):c.915G>A (p.Gly305=)
|
rs1274553859
|
0.00001
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
NM_001005242.3(PKP2):c.925G>A (p.Ala309Thr)
|
rs761677945
|
0.00001
|
NM_001005242.3(PKP2):c.931G>C (p.Asp311His)
|
rs1956947554
|
0.00001
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu)
|
rs139903989
|
0.00001
|
NM_001005242.3(PKP2):c.958A>G (p.Thr320Ala)
|
rs879225885
|
0.00001
|
NM_001005242.3(PKP2):c.975C>T (p.Ala325=)
|
rs369921166
|
0.00001
|
NM_001005242.3(PKP2):c.994C>T (p.Leu332=)
|
rs1956945387
|
0.00001
|
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser)
|
rs878941853
|
0.00001
|
NM_004572.3(PKP2):c.-51C>T
|
rs886049326
|
0.00001
|
NM_004572.3(PKP2):c.-66G>C
|
rs1157974448
|
0.00001
|
GRCh37/hg19 12p11.21(chr12:32974270-32977116)x3
|
|
|
NC_000012.11:g.(?_32729272)_(33049685_?)dup
|
|
|
NC_000012.11:g.(?_32729292)_(33049665_?)dup
|
|
|
NC_000012.11:g.(?_32772622)_(33049675_?)dup
|
|
|
NC_000012.11:g.(?_32945338)_(32977116_?)del
|
|
|
NC_000012.11:g.(?_32945348)_(32949242_?)del
|
|
|
NC_000012.11:g.(?_32945348)_(33049675_?)dup
|
|
|
NC_000012.11:g.(?_32945358)_(32945685_?)del
|
|
|
NC_000012.11:g.(?_32945358)_(32949252_?)del
|
|
|
NC_000012.11:g.(?_32945358)_(32949252_?)dup
|
|
|
NC_000012.11:g.(?_32945358)_(33049665_?)del
|
|
|
NC_000012.11:g.(?_32945558)_(32949252_?)dup
|
|
|
NC_000012.11:g.(?_32949023)_(32949252_?)del
|
|
|
NC_000012.11:g.(?_32949023)_(32955510_?)del
|
|
|
NC_000012.11:g.(?_32949033)_(32949242_?)del
|
|
|
NC_000012.11:g.(?_32949033)_(32955500_?)del
|
|
|
NC_000012.11:g.(?_32954329)_(32955343_?)del
|
|
|
NC_000012.11:g.(?_32974270)_(32977116_?)dup
|
|
|
NC_000012.11:g.(?_32975391)_(32977106_?)dup
|
|
|
NC_000012.11:g.(?_32978346)_(32996155_?)del
|
|
|
NC_000012.11:g.(?_32978391)_(32996200_?)del
|
|
|
NC_000012.11:g.(?_32993942)_(33003927_?)del
|
|
|
NC_000012.11:g.(?_32993942)_(33003927_?)dup
|
|
|
NC_000012.11:g.(?_33003680)_(33003927_?)del
|
|
|
NC_000012.11:g.(?_33003694)_(33003913_?)del
|
|
|
NC_000012.11:g.(?_33021841)_(33022016_?)del
|
|
|
NC_000012.11:g.(?_33021841)_(33031986_?)del
|
|
|
NC_000012.11:g.(?_33021841)_(33031986_?)dup
|
|
|
NC_000012.11:g.(?_33021841)_(33049665_?)dup
|
|
|
NC_000012.11:g.(?_33021841)_(33049685_?)dup
|
|
|
NC_000012.11:g.(?_33021851)_(33031976_?)del
|
|
|
NC_000012.11:g.(?_33030760)_(33031986_?)del
|
|
|
NC_000012.11:g.(?_33030760)_(33049665_?)del
|
|
|
NC_000012.11:g.(?_33031462)_(33032597_?)del
|
|
|
NC_000012.11:g.(?_33031916)_(33033605_?)del
|
|
|
NC_000012.11:g.(?_33049423)_(33049665_?)del
|
|
|
NC_000012.11:g.(?_33049423)_(33049665_?)dup
|
|
|
NC_000012.12:g.(?_32792404)_(32896751_?)del
|
|
|
NC_000012.12:g.(?_32792414)_(32796308_?)dup
|
|
|
NC_000012.12:g.(?_32792414)_(32896741_?)del
|
|
|
NC_000012.12:g.(?_32792634)_(32796308_?)dup
|
|
|
NC_000012.12:g.(?_32802383)_(32802576_?)del
|
|
|
NC_000012.12:g.(?_32824025)_(32824182_?)del
|
|
|
NC_000012.12:g.(?_32824035)_(32824172_?)del
|
|
|
NC_000012.12:g.(?_32850756)_(32850983_?)del
|
|
|
NC_000012.12:g.(?_32850756)_(32850983_?)dup
|
|
|
NC_000012.12:g.(?_32868917)_(32869072_?)del
|
|
|
NC_000012.12:g.(?_32877836)_(32879042_?)del
|
|
|
NC_000012.12:g.(?_32877836)_(32896741_?)del
|
|
|
NC_000012.12:g.(?_32877846)_(32879032_?)del
|
|
|
NC_000012.12:g.32896640_32896911del
|
|
|
NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val)
|
rs1114167342
|
|
NM_001005242.3(PKP2):c.*1527G>A
|
rs1238128272
|
|
NM_001005242.3(PKP2):c.*1602A>G
|
rs760973876
|
|
NM_001005242.3(PKP2):c.*180C>G
|
rs886049319
|
|
NM_001005242.3(PKP2):c.*252A>G
|
rs886049316
|
|
NM_001005242.3(PKP2):c.*400A>G
|
rs529644235
|
|
NM_001005242.3(PKP2):c.*429A>T
|
rs1956071585
|
|
NM_001005242.3(PKP2):c.*944C>A
|
rs6488090
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
NM_001005242.3(PKP2):c.1002T>C (p.Thr334=)
|
rs2137945629
|
|
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
|
|
|
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter)
|
rs1396519956
|
|
NM_001005242.3(PKP2):c.1007_1008del (p.Arg336fs)
|
|
|
NM_001005242.3(PKP2):c.1008_1010del (p.Arg336del)
|
|
|
NM_001005242.3(PKP2):c.1017C>T (p.Phe339=)
|
|
|
NM_001005242.3(PKP2):c.1019C>T (p.Thr340Ile)
|
rs1592762999
|
|
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys)
|
rs1957128054
|
|
NM_001005242.3(PKP2):c.1020T>C (p.Thr340=)
|
|
|
NM_001005242.3(PKP2):c.1028A>G (p.Gln343Arg)
|
rs762744983
|
|
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
|
|
|
NM_001005242.3(PKP2):c.102C>T (p.Ser34=)
|
rs2138010805
|
|
NM_001005242.3(PKP2):c.102dup (p.Glu35fs)
|
|
|
NM_001005242.3(PKP2):c.1033G>A (p.Gly345Arg)
|
rs1592762989
|
|
NM_001005242.3(PKP2):c.1034+13C>G
|
|
|
NM_001005242.3(PKP2):c.1034+19C>T
|
|
|
NM_001005242.3(PKP2):c.1034+1G>C
|
rs869025496
|
|
NM_001005242.3(PKP2):c.1034+1G>T
|
rs869025496
|
|
NM_001005242.3(PKP2):c.1034+4del
|
rs397516983
|
|
NM_001005242.3(PKP2):c.1034+9C>G
|
|
|
NM_001005242.3(PKP2):c.1034G>A (p.Gly345Glu)
|
|
|
NM_001005242.3(PKP2):c.1035-10G>T
|
rs1448052777
|
|
NM_001005242.3(PKP2):c.1035-13C>T
|
rs1189037360
|
|
NM_001005242.3(PKP2):c.1035-18C>T
|
rs1373621892
|
|
NM_001005242.3(PKP2):c.1035-20dup
|
|
|
NM_001005242.3(PKP2):c.1035-8_1035-5del
|
|
|
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=)
|
rs905404609
|
|
NM_001005242.3(PKP2):c.1039G>A (p.Ala347Thr)
|
rs1164976319
|
|
NM_001005242.3(PKP2):c.103G>T (p.Glu35Ter)
|
|
|
NM_001005242.3(PKP2):c.1046T>G (p.Met349Arg)
|
|
|
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys)
|
rs147264025
|
|
NM_001005242.3(PKP2):c.1058T>C (p.Leu353Pro)
|
rs1956875248
|
|
NM_001005242.3(PKP2):c.1058_1059del (p.Leu353fs)
|
|
|
NM_001005242.3(PKP2):c.1059G>A (p.Leu353=)
|
|
|
NM_001005242.3(PKP2):c.105G>A (p.Glu35=)
|
|
|
NM_001005242.3(PKP2):c.1062G>A (p.Glu354=)
|
|
|
NM_001005242.3(PKP2):c.1066G>C (p.Ala356Pro)
|
rs1956875094
|
|
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
|
rs1215591759
|
|
NM_001005242.3(PKP2):c.1075A>G (p.Met359Val)
|
rs1336886985
|
|
NM_001005242.3(PKP2):c.1076T>A (p.Met359Lys)
|
|
|
NM_001005242.3(PKP2):c.107C>T (p.Ala36Val)
|
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
NM_001005242.3(PKP2):c.1081G>C (p.Glu361Gln)
|
|
|
NM_001005242.3(PKP2):c.1087_1088del (p.Asp363fs)
|
|
|
NM_001005242.3(PKP2):c.1090C>T (p.His364Tyr)
|
rs2137919820
|
|
NM_001005242.3(PKP2):c.10C>A (p.Pro4Thr)
|
|
|
NM_001005242.3(PKP2):c.1101A>G (p.Pro367=)
|
rs776927054
|
|
NM_001005242.3(PKP2):c.1104C>G (p.Ser368=)
|
rs892666132
|
|
NM_001005242.3(PKP2):c.1107G>A (p.Arg369=)
|
|
|
NM_001005242.3(PKP2):c.1112C>G (p.Ser371Cys)
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1117G>A (p.Ala373Thr)
|
rs2137919581
|
|
NM_001005242.3(PKP2):c.1120G>T (p.Ala374Ser)
|
|
|
NM_001005242.3(PKP2):c.1122T>C (p.Ala374=)
|
rs2137919557
|
|
NM_001005242.3(PKP2):c.1123A>T (p.Thr375Ser)
|
rs2137919547
|
|
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs)
|
rs794729124
|
|
NM_001005242.3(PKP2):c.1126_1131dup (p.Ile377_Gln378insPheIle)
|
|
|
NM_001005242.3(PKP2):c.1127del (p.Phe376fs)
|
rs2137919527
|
|
NM_001005242.3(PKP2):c.1133A>G (p.Gln378Arg)
|
rs1956873618
|
|
NM_001005242.3(PKP2):c.1133A>T (p.Gln378Leu)
|
rs1956873618
|
|
NM_001005242.3(PKP2):c.1139A>C (p.Glu380Ala)
|
|
|
NM_001005242.3(PKP2):c.1140G>T (p.Glu380Asp)
|
|
|
NM_001005242.3(PKP2):c.1152A>G (p.Lys384=)
|
|
|
NM_001005242.3(PKP2):c.1162C>G (p.Arg388Gly)
|
|
|
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)
|
rs756000218
|
|
NM_001005242.3(PKP2):c.1164G>A (p.Arg388=)
|
|
|
NM_001005242.3(PKP2):c.1168A>G (p.Arg390Gly)
|
|
|
NM_001005242.3(PKP2):c.1170+10A>C
|
|
|
NM_001005242.3(PKP2):c.1170+10A>G
|
|
|
NM_001005242.3(PKP2):c.1170+13T>G
|
|
|
NM_001005242.3(PKP2):c.1170+14T>A
|
|
|
NM_001005242.3(PKP2):c.1170+15C>A
|
rs1395923604
|
|
NM_001005242.3(PKP2):c.1170+17G>A
|
|
|
NM_001005242.3(PKP2):c.1170+18T>C
|
rs2137919020
|
|
NM_001005242.3(PKP2):c.1170+18T>G
|
|
|
NM_001005242.3(PKP2):c.1170+19C>G
|
|
|
NM_001005242.3(PKP2):c.1170+1G>A
|
rs786204392
|
|
NM_001005242.3(PKP2):c.1170+1G>C
|
|
|
NM_001005242.3(PKP2):c.1170+1G>T
|
|
|
NM_001005242.3(PKP2):c.1170+20C>T
|
|
|
NM_001005242.3(PKP2):c.1170+2T>A
|
rs397516987
|
|
NM_001005242.3(PKP2):c.1170+2T>C
|
rs397516987
|
|
NM_001005242.3(PKP2):c.1170+3G>A
|
rs1956872807
|
|
NM_001005242.3(PKP2):c.1170+3G>C
|
|
|
NM_001005242.3(PKP2):c.1170+4_1170+5del
|
rs2137919094
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
NM_001005242.3(PKP2):c.1170+5G>A
|
rs794729105
|
|
NM_001005242.3(PKP2):c.1170+5G>T
|
rs794729105
|
|
NM_001005242.3(PKP2):c.1171-16T>C
|
|
|
NM_001005242.3(PKP2):c.1171-19G>A
|
rs376451546
|
|
NM_001005242.3(PKP2):c.1171-19G>T
|
rs376451546
|
|
NM_001005242.3(PKP2):c.1171-20T>C
|
|
|
NM_001005242.3(PKP2):c.1171-20T>G
|
rs1592750729
|
|
NM_001005242.3(PKP2):c.1171-5_1171-2dup
|
rs2137863489
|
|
NM_001005242.3(PKP2):c.1177C>A (p.Gln393Lys)
|
|
|
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)
|
rs786204393
|
|
NM_001005242.3(PKP2):c.1180C>T (p.Leu394Phe)
|
rs886049321
|
|
NM_001005242.3(PKP2):c.1184G>A (p.Arg395His)
|
rs773611613
|
|
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val)
|
rs1956691539
|
|
NM_001005242.3(PKP2):c.1189A>T (p.Ile397Phe)
|
|
|
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val)
|
rs1039022167
|
|
NM_001005242.3(PKP2):c.1195A>C (p.Lys399Gln)
|
|
|
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.1212A>C (p.Leu404=)
|
|
|
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=)
|
rs1592750669
|
|
NM_001005242.3(PKP2):c.1216G>T (p.Val406Phe)
|
|
|
NM_001005242.3(PKP2):c.1217_1379-790inv
|
|
|
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)
|
rs1555145520
|
|
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
|
|
|
NM_001005242.3(PKP2):c.1224T>C (p.Asn408=)
|
|
|
NM_001005242.3(PKP2):c.122C>A (p.Ala41Glu)
|
|
|
NM_001005242.3(PKP2):c.1231G>T (p.Val411Phe)
|
rs192041220
|
|
NM_001005242.3(PKP2):c.1233T>G (p.Val411=)
|
rs2137863106
|
|
NM_001005242.3(PKP2):c.1237C>G (p.Arg413Gly)
|
|
|
NM_001005242.3(PKP2):c.123G>A (p.Ala41=)
|
|
|
NM_001005242.3(PKP2):c.1244T>G (p.Val415Gly)
|
rs1335415987
|
|
NM_001005242.3(PKP2):c.1251G>A (p.Gly417=)
|
|
|
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=)
|
rs567854722
|
|
NM_001005242.3(PKP2):c.1252del (p.Ala418fs)
|
rs1555145509
|
|
NM_001005242.3(PKP2):c.1256T>C (p.Leu419Ser)
|
rs1265030036
|
|
NM_001005242.3(PKP2):c.125G>A (p.Gly42Glu)
|
|
|
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs)
|
rs1956690062
|
|
NM_001005242.3(PKP2):c.126G>A (p.Gly42=)
|
rs2138010654
|
|
NM_001005242.3(PKP2):c.1278C>T (p.Asp426=)
|
|
|
NM_001005242.3(PKP2):c.1286A>G (p.Asn429Ser)
|
rs2137862708
|
|
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln)
|
rs1956689490
|
|
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
|
|
|
NM_001005242.3(PKP2):c.1297G>A (p.Val433Met)
|
|
|
NM_001005242.3(PKP2):c.12C>A (p.Pro4=)
|
|
|
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs)
|
rs397516992
|
|
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
|
|
|
NM_001005242.3(PKP2):c.1314G>T (p.Gly438=)
|
rs2137862483
|
|
NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn)
|
|
|
NM_001005242.3(PKP2):c.1332G>C (p.Gln444His)
|
|
|
NM_001005242.3(PKP2):c.1336_1338del (p.Leu446del)
|
|
|
NM_001005242.3(PKP2):c.1338G>A (p.Leu446=)
|
|
|
NM_001005242.3(PKP2):c.1345A>G (p.Thr449Ala)
|
rs2137862264
|
|
NM_001005242.3(PKP2):c.1347C>T (p.Thr449=)
|
|
|
NM_001005242.3(PKP2):c.1353C>T (p.Asp451=)
|
rs879074880
|
|
NM_001005242.3(PKP2):c.1355T>A (p.Leu452Ter)
|
|
|
NM_001005242.3(PKP2):c.1359G>A (p.Glu453=)
|
rs1158553343
|
|
NM_001005242.3(PKP2):c.1361C>T (p.Thr454Ile)
|
rs2137862174
|
|
NM_001005242.3(PKP2):c.1366A>C (p.Lys456Gln)
|
rs1555145493
|
|
NM_001005242.3(PKP2):c.1367A>G (p.Lys456Arg)
|
rs750897570
|
|
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)
|
rs1393661338
|
|
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs)
|
rs1393661338
|
|
NM_001005242.3(PKP2):c.1369C>A (p.Gln457Lys)
|
rs1956688410
|
|
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)
|
rs397516993
|
|
NM_001005242.3(PKP2):c.1370A>G (p.Gln457Arg)
|
|
|
NM_001005242.3(PKP2):c.1372A>T (p.Ile458Leu)
|
|
|
NM_001005242.3(PKP2):c.1373T>A (p.Ile458Lys)
|
rs1036553117
|
|
NM_001005242.3(PKP2):c.1377A>G (p.Thr459=)
|
rs1565590176
|
|
NM_001005242.3(PKP2):c.1378+17A>G
|
|
|
NM_001005242.3(PKP2):c.1378+1G>A
|
rs397516994
|
|
NM_001005242.3(PKP2):c.1378+1G>C
|
rs397516994
|
|
NM_001005242.3(PKP2):c.1378+2T>A
|
rs762103704
|
|
NM_001005242.3(PKP2):c.1378+5T>C
|
rs767415624
|
|
NM_001005242.3(PKP2):c.1378+5T>G
|
|
|
NM_001005242.3(PKP2):c.1379-12G>T
|
|
|
NM_001005242.3(PKP2):c.1379-15T>C
|
|
|
NM_001005242.3(PKP2):c.1379-1966del
|
rs1555144717
|
|
NM_001005242.3(PKP2):c.1379-1967C>T
|
|
|
NM_001005242.3(PKP2):c.1379-1967dup
|
|
|
NM_001005242.3(PKP2):c.1379-1976G>A
|
rs1332615728
|
|
NM_001005242.3(PKP2):c.1379-1980C>G
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>G
|
rs759017992
|
|
NM_001005242.3(PKP2):c.1379-1984C>T
|
rs759017992
|
|
NM_001005242.3(PKP2):c.1379-1986G>T
|
rs1956614139
|
|
NM_001005242.3(PKP2):c.1379-1989C>T
|
|
|
NM_001005242.3(PKP2):c.1379-1990G>A
|
rs747472526
|
|
NM_001005242.3(PKP2):c.1379-1990G>T
|
|
|
NM_001005242.3(PKP2):c.1379-1992C>T
|
rs2137837678
|
|
NM_001005242.3(PKP2):c.1379-1994A>G
|
|
|
NM_001005242.3(PKP2):c.1379-1998C>A
|
rs151212477
|
|
NM_001005242.3(PKP2):c.1379-2002A>G
|
rs1283785731
|
|
NM_001005242.3(PKP2):c.1379-2004G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2009G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2010A>G
|
rs1382350974
|
|
NM_001005242.3(PKP2):c.1379-2010A>T
|
|
|
NM_001005242.3(PKP2):c.1379-2011G>C
|
rs140301552
|
|
NM_001005242.3(PKP2):c.1379-2021G>T
|
rs2137837919
|
|
NM_001005242.3(PKP2):c.1379-2024G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2027A>G
|
rs778247181
|
|
NM_001005242.3(PKP2):c.1379-2039C>T
|
rs1257306156
|
|
NM_001005242.3(PKP2):c.1379-2040A>G
|
|
|
NM_001005242.3(PKP2):c.1379-2041C>A
|
|
|
NM_001005242.3(PKP2):c.1379-2043A>G
|
rs1188858368
|
|
NM_001005242.3(PKP2):c.1379-2045C>T
|
rs557373206
|
|
NM_001005242.3(PKP2):c.1379-2045_1379-1738del
|
rs2137836547
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001005242.3(PKP2):c.1379-2056C>G
|
|
|
NM_001005242.3(PKP2):c.1379-2058C>T
|
|
|
NM_001005242.3(PKP2):c.1379-2060C>G
|
rs1565587911
|
|
NM_001005242.3(PKP2):c.1379-2062G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2068C>A
|
|
|
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
|
|
|
NM_001005242.3(PKP2):c.1379-2076T>C
|
|
|
NM_001005242.3(PKP2):c.1379-2080T>C
|
rs2137838317
|
|
NM_001005242.3(PKP2):c.1379-2081A>G
|
rs2137838328
|
|
NM_001005242.3(PKP2):c.1379-2083G>A
|
rs1592747658
|
|
NM_001005242.3(PKP2):c.1379-2087G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2088A>G
|
rs2137838364
|
|
NM_001005242.3(PKP2):c.1379-2091A>T
|
|
|
NM_001005242.3(PKP2):c.1379-2101A>G
|
rs1424035271
|
|
NM_001005242.3(PKP2):c.1379-2105A>G
|
rs376606525
|
|
NM_001005242.3(PKP2):c.1379-2107C>T
|
|
|
NM_001005242.3(PKP2):c.1379-2114G>A
|
rs2137838518
|
|
NM_001005242.3(PKP2):c.1379-2117T>A
|
rs1956617482
|
|
NM_001005242.3(PKP2):c.1379-2119C>A
|
rs371719724
|
|
NM_001005242.3(PKP2):c.1379-2A>G
|
rs1453983744
|
|
NM_001005242.3(PKP2):c.1379G>A (p.Gly460Asp)
|
rs755399089
|
|
NM_001005242.3(PKP2):c.1382del (p.Leu461fs)
|
|
|
NM_001005242.3(PKP2):c.1383G>A (p.Leu461=)
|
rs2137831117
|
|
NM_001005242.3(PKP2):c.1385T>C (p.Leu462Pro)
|
|
|
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter)
|
rs2137831087
|
|
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
|
|
|
NM_001005242.3(PKP2):c.1390A>C (p.Asn464His)
|
|
|
NM_001005242.3(PKP2):c.1391_1406del (p.Asn464fs)
|
rs2137830958
|
|
NM_001005242.3(PKP2):c.1395G>A (p.Leu465=)
|
|
|
NM_001005242.3(PKP2):c.1395G>T (p.Leu465Phe)
|
rs1956588629
|
|
NM_001005242.3(PKP2):c.1398A>C (p.Ser466=)
|
rs1163940991
|
|
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs)
|
rs794729125
|
|
NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup)
|
rs944330366
|
|
NM_001005242.3(PKP2):c.1400C>T (p.Ser467Phe)
|
rs1287872807
|
|
NM_001005242.3(PKP2):c.1409A>G (p.Lys470Arg)
|
|
|
NM_001005242.3(PKP2):c.1410del (p.Lys470fs)
|
rs1565586958
|
|
NM_001005242.3(PKP2):c.1411C>G (p.Leu471Val)
|
rs878854708
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
NM_001005242.3(PKP2):c.1419_1420insTCAAGAAC (p.Leu474fs)
|
|
|
NM_001005242.3(PKP2):c.1420C>G (p.Leu474Val)
|
|
|
NM_001005242.3(PKP2):c.1423A>C (p.Met475Leu)
|
|
|
NM_001005242.3(PKP2):c.1427T>A (p.Ile476Lys)
|
rs762789806
|
|
NM_001005242.3(PKP2):c.1432G>A (p.Glu478Lys)
|
rs1956588010
|
|
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs)
|
rs1565586921
|
|
NM_001005242.3(PKP2):c.1435G>T (p.Ala479Ser)
|
rs766622938
|
|
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
|
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
NM_001005242.3(PKP2):c.1443T>C (p.Leu481=)
|
|
|
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)
|
rs794729126
|
|
NM_001005242.3(PKP2):c.1448T>G (p.Leu483Arg)
|
rs397517000
|
|
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)
|
rs930283260
|
|
NM_001005242.3(PKP2):c.1465A>G (p.Ile489Val)
|
rs1956587369
|
|
NM_001005242.3(PKP2):c.1465_1468del (p.Ile489fs)
|
|
|
NM_001005242.3(PKP2):c.1474T>C (p.Ser492Pro)
|
|
|
NM_001005242.3(PKP2):c.1478G>T (p.Gly493Val)
|
|
|
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)
|
rs397517001
|
|
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=)
|
rs879043258
|
|
NM_001005242.3(PKP2):c.1489G>A (p.Gly497Arg)
|
rs2137830279
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
|
|
|
NM_001005242.3(PKP2):c.1491A>T (p.Gly497=)
|
|
|
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
|
|
|
NM_001005242.3(PKP2):c.1493_1498del (p.Asp498_Pro500delinsAla)
|
|
|
NM_001005242.3(PKP2):c.1497C>T (p.Tyr499=)
|
rs765139046
|
|
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs)
|
rs1318070848
|
|
NM_001005242.3(PKP2):c.1503A>T (p.Lys501Asn)
|
|
|
NM_001005242.3(PKP2):c.1506A>T (p.Ala502=)
|
rs2137830158
|
|
NM_001005242.3(PKP2):c.1511G>T (p.Gly504Val)
|
rs1592746320
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
NM_001005242.3(PKP2):c.1520A>G (p.Asp507Gly)
|
rs1555144465
|
|
NM_001005242.3(PKP2):c.152_153del (p.Val51fs)
|
rs1957127435
|
|
NM_001005242.3(PKP2):c.1531T>C (p.Phe511Leu)
|
|
|
NM_001005242.3(PKP2):c.1532del (p.Phe511fs)
|
rs794729127
|
|
NM_001005242.3(PKP2):c.1538A>G (p.Asn513Ser)
|
rs2137829917
|
|
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)
|
rs1064796069
|
|
NM_001005242.3(PKP2):c.1544C>T (p.Thr515Ile)
|
|
|
NM_001005242.3(PKP2):c.1554A>C (p.Leu518=)
|
|
|
NM_001005242.3(PKP2):c.1556+10C>T
|
rs1057521860
|
|
NM_001005242.3(PKP2):c.1556+11C>G
|
rs754845481
|
|
NM_001005242.3(PKP2):c.1556+12T>C
|
|
|
NM_001005242.3(PKP2):c.1556+15A>T
|
|
|
NM_001005242.3(PKP2):c.1556+1G>A
|
rs397517003
|
|
NM_001005242.3(PKP2):c.1556+5T>C
|
|
|
NM_001005242.3(PKP2):c.1556+9A>G
|
rs397517004
|
|
NM_001005242.3(PKP2):c.1557-10T>G
|
|
|
NM_001005242.3(PKP2):c.1557-14_1557-8del
|
rs1220372775
|
|
NM_001005242.3(PKP2):c.1557-15dup
|
|
|
NM_001005242.3(PKP2):c.1557-21GTTTTTT[3]
|
|
|
NM_001005242.3(PKP2):c.1557-2A>G
|
rs1555143143
|
|
NM_001005242.3(PKP2):c.1557-3T>C
|
|
|
NM_001005242.3(PKP2):c.1557-5G>A
|
rs1956411165
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)
|
rs958681660
|
|
NM_001005242.3(PKP2):c.1565G>T (p.Ser522Ile)
|
rs1478657141
|
|
NM_001005242.3(PKP2):c.1569T>C (p.Ser523=)
|
rs1592738689
|
|
NM_001005242.3(PKP2):c.156G>C (p.Lys52Asn)
|
rs201210997
|
|
NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser)
|
rs1956410714
|
|
NM_001005242.3(PKP2):c.1586G>A (p.Arg529Lys)
|
rs1555143136
|
|
NM_001005242.3(PKP2):c.1592C>T (p.Ala531Val)
|
|
|
NM_001005242.3(PKP2):c.1593G>A (p.Ala531=)
|
rs760093803
|
|
NM_001005242.3(PKP2):c.1593G>C (p.Ala531=)
|
rs760093803
|
|
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=)
|
rs760093803
|
|
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs)
|
rs1555143134
|
|
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu)
|
rs1298544159
|
|
NM_001005242.3(PKP2):c.1597AGA[1] (p.Arg534del)
|
rs1956409943
|
|
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg)
|
rs770694213
|
|
NM_001005242.3(PKP2):c.15C>G (p.Gly5=)
|
rs1390632513
|
|
NM_001005242.3(PKP2):c.15C>T (p.Gly5=)
|
rs1390632513
|
|
NM_001005242.3(PKP2):c.1600A>C (p.Arg534=)
|
rs541792948
|
|
NM_001005242.3(PKP2):c.1601G>T (p.Arg534Ile)
|
|
|
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser)
|
rs1956409909
|
|
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
|
|
|
NM_001005242.3(PKP2):c.160C>T (p.Leu54=)
|
|
|
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe)
|
rs794729134
|
|
NM_001005242.3(PKP2):c.1613T>C (p.Leu538Pro)
|
rs1565581687
|
|
NM_001005242.3(PKP2):c.1614C>T (p.Leu538=)
|
rs1956409610
|
|
NM_001005242.3(PKP2):c.1616T>C (p.Ile539Thr)
|
rs1956409566
|
|
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs)
|
rs2137783366
|
|
NM_001005242.3(PKP2):c.1625del (p.Leu542fs)
|
rs1060501182
|
|
NM_001005242.3(PKP2):c.1631A>G (p.His544Arg)
|
rs1956409116
|
|
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile)
|
rs1475361697
|
|
NM_001005242.3(PKP2):c.1638C>T (p.Val546=)
|
rs2137783220
|
|
NM_001005242.3(PKP2):c.163C>T (p.Arg55Trp)
|
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
NM_001005242.3(PKP2):c.1646C>T (p.Thr549Ile)
|
|
|
NM_001005242.3(PKP2):c.1649T>A (p.Ile550Asn)
|
rs1592738583
|
|
NM_001005242.3(PKP2):c.1649T>C (p.Ile550Thr)
|
|
|
NM_001005242.3(PKP2):c.164G>A (p.Arg55Gln)
|
|
|
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)
|
rs771808028
|
|
NM_001005242.3(PKP2):c.1667del (p.Asp556fs)
|
rs794729128
|
|
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
|
|
|
NM_001005242.3(PKP2):c.1674+12G>C
|
|
|
NM_001005242.3(PKP2):c.1674+18T>C
|
|
|
NM_001005242.3(PKP2):c.1674+20T>C
|
|
|
NM_001005242.3(PKP2):c.1675-10G>A
|
|
|
NM_001005242.3(PKP2):c.1675-11del
|
|
|
NM_001005242.3(PKP2):c.1675-19T>G
|
|
|
NM_001005242.3(PKP2):c.1675-2A>G
|
rs2137778300
|
|
NM_001005242.3(PKP2):c.1675-3C>T
|
rs1592737932
|
|
NM_001005242.3(PKP2):c.1675G>A (p.Ala559Thr)
|
rs2137778289
|
|
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
|
|
|
NM_001005242.3(PKP2):c.1689T>G (p.Cys563Trp)
|
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001005242.3(PKP2):c.1690G>A (p.Val564Met)
|
rs1565581029
|
|
NM_001005242.3(PKP2):c.1696A>G (p.Ile566Val)
|
rs794729110
|
|
NM_001005242.3(PKP2):c.1707C>T (p.Asn569=)
|
|
|
NM_001005242.3(PKP2):c.1708C>A (p.Leu570Ile)
|
rs1956392355
|
|
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
|
|
|
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe)
|
rs1060501186
|
|
NM_001005242.3(PKP2):c.1714T>C (p.Tyr572His)
|
|
|
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
|
|
|
NM_001005242.3(PKP2):c.1719G>A (p.Gln573=)
|
|
|
NM_001005242.3(PKP2):c.1719G>C (p.Gln573His)
|
rs786205476
|
|
NM_001005242.3(PKP2):c.1726G>A (p.Ala576Thr)
|
|
|
NM_001005242.3(PKP2):c.1727C>A (p.Ala576Glu)
|
rs2137777851
|
|
NM_001005242.3(PKP2):c.1729G>A (p.Glu577Lys)
|
|
|
NM_001005242.3(PKP2):c.1732C>T (p.Leu578Phe)
|
|
|
NM_001005242.3(PKP2):c.1734C>G (p.Leu578=)
|
rs1460314882
|
|
NM_001005242.3(PKP2):c.1735C>T (p.Pro579Ser)
|
|
|
NM_001005242.3(PKP2):c.1737A>G (p.Pro579=)
|
rs766498974
|
|
NM_001005242.3(PKP2):c.1737A>T (p.Pro579=)
|
|
|
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter)
|
rs1956391770
|
|
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
|
|
|
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
|
|
|
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
|
|
|
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)
|
rs794729112
|
|
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)
|
rs769817013
|
|
NM_001005242.3(PKP2):c.174G>A (p.Glu58=)
|
rs146708884
|
|
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter)
|
rs2137777670
|
|
NM_001005242.3(PKP2):c.1756A>G (p.Ile586Val)
|
|
|
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
|
|
|
NM_001005242.3(PKP2):c.175C>G (p.Gln59Glu)
|
rs1957126844
|
|
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter)
|
rs1957126844
|
|
NM_001005242.3(PKP2):c.1769del (p.Asn590fs)
|
rs1064793231
|
|
NM_001005242.3(PKP2):c.1771C>T (p.Arg591Trp)
|
rs778928536
|
|
NM_001005242.3(PKP2):c.1771del (p.Arg591fs)
|
rs1555142984
|
|
NM_001005242.3(PKP2):c.1772G>T (p.Arg591Leu)
|
|
|
NM_001005242.3(PKP2):c.1779C>G (p.Ile593Met)
|
|
|
NM_001005242.3(PKP2):c.1782G>T (p.Gln594His)
|
|
|
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del)
|
rs750084387
|
|
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
|
|
|
NM_001005242.3(PKP2):c.1794C>T (p.Asn598=)
|
rs727503370
|
|
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg)
|
rs960192135
|
|
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)
|
rs1555142963
|
|
NM_001005242.3(PKP2):c.1809T>C (p.Cys603=)
|
rs767935208
|
|
NM_001005242.3(PKP2):c.180G>T (p.Val60=)
|
|
|
NM_001005242.3(PKP2):c.1812T>C (p.Phe604=)
|
|
|
NM_001005242.3(PKP2):c.1815C>A (p.Gly605=)
|
|
|
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)
|
rs397517013
|
|
NM_001005242.3(PKP2):c.182A>G (p.Gln61Arg)
|
|
|
NM_001005242.3(PKP2):c.1831G>T (p.Val611Leu)
|
rs1003410304
|
|
NM_001005242.3(PKP2):c.1838A>T (p.Glu613Val)
|
|
|
NM_001005242.3(PKP2):c.1839+2T>A
|
|
|
NM_001005242.3(PKP2):c.1839+6T>C
|
rs985611212
|
|
NM_001005242.3(PKP2):c.1839+6T>G
|
|
|
NM_001005242.3(PKP2):c.1840-10G>A
|
rs768000598
|
|
NM_001005242.3(PKP2):c.1840-19T>C
|
|
|
NM_001005242.3(PKP2):c.1840-1G>C
|
rs2137774389
|
|
NM_001005242.3(PKP2):c.1840-4T>C
|
|
|
NM_001005242.3(PKP2):c.1840-6G>A
|
|
|
NM_001005242.3(PKP2):c.1840-6G>T
|
|
|
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs)
|
rs1956378850
|
|
NM_001005242.3(PKP2):c.1845C>T (p.Tyr615=)
|
|
|
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=)
|
rs759353036
|
|
NM_001005242.3(PKP2):c.1848G>C (p.Gln616His)
|
|
|
NM_001005242.3(PKP2):c.1851C>T (p.Asp617=)
|
rs752732048
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
NM_001005242.3(PKP2):c.1854G>A (p.Val618=)
|
|
|
NM_001005242.3(PKP2):c.1856C>A (p.Pro619Gln)
|
|
|
NM_001005242.3(PKP2):c.1856C>T (p.Pro619Leu)
|
rs1056066633
|
|
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg)
|
rs773061639
|
|
NM_001005242.3(PKP2):c.1866G>A (p.Glu622=)
|
rs1956377972
|
|
NM_001005242.3(PKP2):c.1870A>G (p.Lys624Glu)
|
|
|
NM_001005242.3(PKP2):c.1872G>A (p.Lys624=)
|
rs1395644069
|
|
NM_001005242.3(PKP2):c.1876A>G (p.Asn626Asp)
|
rs2137773947
|
|
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys)
|
rs769943903
|
|
NM_001005242.3(PKP2):c.1879C>T (p.Pro627Ser)
|
rs1956377569
|
|
NM_001005242.3(PKP2):c.1881C>T (p.Pro627=)
|
|
|
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)
|
rs764817683
|
|
NM_001005242.3(PKP2):c.1882A>G (p.Lys628Glu)
|
|
|
NM_001005242.3(PKP2):c.1883_1887delinsG (p.Lys628fs)
|
|
|
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
|
|
|
NM_001005242.3(PKP2):c.1893G>A (p.Glu631=)
|
|
|
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp)
|
rs879110663
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
|
|
|
NM_001005242.3(PKP2):c.1908C>T (p.Ser636=)
|
rs138495471
|
|
NM_001005242.3(PKP2):c.190dup (p.Leu64fs)
|
rs762288961
|
|
NM_001005242.3(PKP2):c.1912G>T (p.Val638Phe)
|
rs2137773553
|
|
NM_001005242.3(PKP2):c.1925A>G (p.Tyr642Cys)
|
rs1291783957
|
|
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)
|
rs1444213066
|
|
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg)
|
rs794729113
|
|
NM_001005242.3(PKP2):c.192C>T (p.Leu64=)
|
rs768376044
|
|
NM_001005242.3(PKP2):c.1938C>T (p.Ile646=)
|
|
|
NM_001005242.3(PKP2):c.1941C>T (p.Ala647=)
|
|
|
NM_001005242.3(PKP2):c.1942A>G (p.Lys648Glu)
|
|
|
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs)
|
rs1064792929
|
|
NM_001005242.3(PKP2):c.1961C>A (p.Thr654Lys)
|
rs1592737188
|
|
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
|
|
|
NM_001005242.3(PKP2):c.1968del (p.Ala657fs)
|
rs1956374971
|
|
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr)
|
rs1199864691
|
|
NM_001005242.3(PKP2):c.1981G>C (p.Ala661Pro)
|
|
|
NM_001005242.3(PKP2):c.1986G>A (p.Leu662=)
|
rs2137772910
|
|
NM_001005242.3(PKP2):c.198del (p.Lys67fs)
|
rs1555149952
|
|
NM_001005242.3(PKP2):c.1991A>G (p.Asn664Ser)
|
|
|
NM_001005242.3(PKP2):c.1992C>A (p.Asn664Lys)
|
|
|
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe)
|
rs397517018
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
NM_001005242.3(PKP2):c.1998G>C (p.Thr666=)
|
rs371089832
|
|
NM_001005242.3(PKP2):c.1998G>T (p.Thr666=)
|
rs371089832
|
|
NM_001005242.3(PKP2):c.1999del (p.Ala667fs)
|
|
|
NM_001005242.3(PKP2):c.199A>C (p.Lys67Gln)
|
|
|
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu)
|
rs1555149950
|
|
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)
|
rs794729107
|
|
NM_001005242.3(PKP2):c.1A>T (p.Met1Leu)
|
|
|
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu)
|
rs1348373466
|
|
NM_001005242.3(PKP2):c.2003G>C (p.Gly668Ala)
|
rs1348373466
|
|
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
|
|
|
NM_001005242.3(PKP2):c.2007T>C (p.Ser669=)
|
rs2137772710
|
|
NM_001005242.3(PKP2):c.2008G>A (p.Gly670Arg)
|
|
|
NM_001005242.3(PKP2):c.200A>G (p.Lys67Arg)
|
rs1957126196
|
|
NM_001005242.3(PKP2):c.2013+19T>C
|
|
|
NM_001005242.3(PKP2):c.2013+2T>C
|
|
|
NM_001005242.3(PKP2):c.2013+5G>A
|
|
|
NM_001005242.3(PKP2):c.2013+6T>A
|
rs1592737126
|
|
NM_001005242.3(PKP2):c.2013+8T>C
|
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
NM_001005242.3(PKP2):c.2014-16A>G
|
|
|
NM_001005242.3(PKP2):c.2014-18A>G
|
|
|
NM_001005242.3(PKP2):c.2014-1_2014del
|
|
|
NM_001005242.3(PKP2):c.2014-3C>T
|
rs2137725939
|
|
NM_001005242.3(PKP2):c.2014A>T (p.Met672Leu)
|
|
|
NM_001005242.3(PKP2):c.2017C>A (p.Pro673Thr)
|
|
|
NM_001005242.3(PKP2):c.201G>A (p.Lys67=)
|
rs1957126171
|
|
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu)
|
rs1956192621
|
|
NM_001005242.3(PKP2):c.2028G>A (p.Val676=)
|
rs1397771521
|
|
NM_001005242.3(PKP2):c.2035_2038del (p.Thr679fs)
|
|
|
NM_001005242.3(PKP2):c.2036C>T (p.Thr679Ile)
|
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2037A>T (p.Thr679=)
|
rs377504106
|
|
NM_001005242.3(PKP2):c.2042T>A (p.Val681Asp)
|
rs1227501219
|
|
NM_001005242.3(PKP2):c.2043C>T (p.Val681=)
|
rs1422427818
|
|
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter)
|
rs1325285497
|
|
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter)
|
rs1956192249
|
|
NM_001005242.3(PKP2):c.2048A>G (p.Lys683Arg)
|
rs1478626016
|
|
NM_001005242.3(PKP2):c.2055T>C (p.Ser685=)
|
|
|
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)
|
rs1956192035
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs)
|
rs397517021
|
|
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs)
|
rs878854710
|
|
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu)
|
rs1388260138
|
|
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)
|
rs121434421
|
|
NM_001005242.3(PKP2):c.2077A>G (p.Met693Val)
|
|
|
NM_001005242.3(PKP2):c.2080C>T (p.Leu694=)
|
|
|
NM_001005242.3(PKP2):c.2083C>T (p.His695Tyr)
|
|
|
NM_001005242.3(PKP2):c.2086G>A (p.Val696Ile)
|
rs1956191269
|
|
NM_001005242.3(PKP2):c.2087T>A (p.Val696Asp)
|
|
|
NM_001005242.3(PKP2):c.2089G>C (p.Gly697Arg)
|
rs2137725489
|
|
NM_001005242.3(PKP2):c.208A>G (p.Ser70Gly)
|
|
|
NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)
|
rs1324822103
|
|
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
|
|
|
NM_001005242.3(PKP2):c.2101G>T (p.Val701Leu)
|
rs757159896
|
|
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile)
|
rs1565574704
|
|
NM_001005242.3(PKP2):c.2119T>C (p.Ser707Pro)
|
rs1592729555
|
|
NM_001005242.3(PKP2):c.2125C>T (p.Leu709=)
|
rs2137725297
|
|
NM_001005242.3(PKP2):c.2126T>A (p.Leu709Gln)
|
|
|
NM_001005242.3(PKP2):c.212C>G (p.Ser71Cys)
|
|
|
NM_001005242.3(PKP2):c.2130G>A (p.Arg710=)
|
rs2137725263
|
|
NM_001005242.3(PKP2):c.2138C>A (p.Ser713Tyr)
|
rs1956190526
|
|
NM_001005242.3(PKP2):c.213C>G (p.Ser71=)
|
rs1173618581
|
|
NM_001005242.3(PKP2):c.2144A>G (p.Asn715Ser)
|
|
|
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)
|
rs1592729525
|
|
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu)
|
rs397517019
|
|
NM_001005242.3(PKP2):c.2151T>G (p.Ser717=)
|
|
|
NM_001005242.3(PKP2):c.2152C>T (p.Leu718=)
|
rs1592729512
|
|
NM_001005242.3(PKP2):c.2153T>G (p.Leu718Arg)
|
|
|
NM_001005242.3(PKP2):c.2154G>C (p.Leu718=)
|
|
|
NM_001005242.3(PKP2):c.2156del (p.Gln719fs)
|
|
|
NM_001005242.3(PKP2):c.2160T>C (p.Asn720=)
|
|
|
NM_001005242.3(PKP2):c.2161_2167+1008del
|
|
|
NM_001005242.3(PKP2):c.2166T>C (p.Ile722=)
|
|
|
NM_001005242.3(PKP2):c.2166T>G (p.Ile722Met)
|
rs1442934924
|
|
NM_001005242.3(PKP2):c.2167+11A>G
|
rs551378645
|
|
NM_001005242.3(PKP2):c.2167+1G>A
|
rs794729116
|
|
NM_001005242.3(PKP2):c.2167+1G>C
|
|
|
NM_001005242.3(PKP2):c.2167+3G>T
|
rs2137725110
|
|
NM_001005242.3(PKP2):c.2168-10C>T
|
rs1410924735
|
|
NM_001005242.3(PKP2):c.2168-11del
|
rs746936605
|
|
NM_001005242.3(PKP2):c.2168-11dup
|
rs746936605
|
|
NM_001005242.3(PKP2):c.2168-16T>C
|
|
|
NM_001005242.3(PKP2):c.2168-16T>G
|
rs746498808
|
|
NM_001005242.3(PKP2):c.2168-19T>G
|
rs527736735
|
|
NM_001005242.3(PKP2):c.2168-1G>A
|
rs1060501184
|
|
NM_001005242.3(PKP2):c.2168-21_2168-19del
|
rs747997926
|
|
NM_001005242.3(PKP2):c.2168-21_2168-20del
|
rs200266270
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2168-4G>T
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2168-9A>T
|
|
|
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
|
|
|
NM_001005242.3(PKP2):c.2175A>T (p.Glu725Asp)
|
|
|
NM_001005242.3(PKP2):c.2177C>T (p.Thr726Ile)
|
rs2137708917
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
NM_001005242.3(PKP2):c.2181C>T (p.Leu727=)
|
rs1032835001
|
|
NM_001005242.3(PKP2):c.2186A>C (p.Asp729Ala)
|
rs1956123004
|
|
NM_001005242.3(PKP2):c.218G>C (p.Gly73Ala)
|
|
|
NM_001005242.3(PKP2):c.218dup (p.Asn74fs)
|
rs1257456477
|
|
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=)
|
rs886049320
|
|
NM_001005242.3(PKP2):c.2193_2198del (p.Ser732_Ile733del)
|
|
|
NM_001005242.3(PKP2):c.2195C>T (p.Ser732Phe)
|
|
|
NM_001005242.3(PKP2):c.2196del (p.Ile733fs)
|
|
|
NM_001005242.3(PKP2):c.2197A>G (p.Ile733Val)
|
rs749907181
|
|
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs)
|
rs397517022
|
|
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
|
|
|
NM_001005242.3(PKP2):c.2212G>A (p.Val738Ile)
|
|
|
NM_001005242.3(PKP2):c.2221A>G (p.Thr741Ala)
|
|
|
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
|
|
|
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)
|
rs145553222
|
|
NM_001005242.3(PKP2):c.2229T>G (p.Leu743=)
|
|
|
NM_001005242.3(PKP2):c.223+12C>T
|
|
|
NM_001005242.3(PKP2):c.223+13C>A
|
|
|
NM_001005242.3(PKP2):c.223+13C>T
|
|
|
NM_001005242.3(PKP2):c.223+15_223+24del
|
|
|
NM_001005242.3(PKP2):c.223+18C>T
|
|
|
NM_001005242.3(PKP2):c.223+6T>G
|
rs755600420
|
|
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)
|
rs543233804
|
|
NM_001005242.3(PKP2):c.2235T>A (p.Ile745=)
|
|
|
NM_001005242.3(PKP2):c.2236G>A (p.Glu746Lys)
|
rs2137708520
|
|
NM_001005242.3(PKP2):c.224-10T>C
|
rs1956962712
|
|
NM_001005242.3(PKP2):c.224-14T>C
|
|
|
NM_001005242.3(PKP2):c.224-1639_274del
|
|
|
NM_001005242.3(PKP2):c.224-18A>G
|
rs370733920
|
|
NM_001005242.3(PKP2):c.224-18A>T
|
rs370733920
|
|
NM_001005242.3(PKP2):c.224-1G>A
|
|
|
NM_001005242.3(PKP2):c.224-3C>A
|
|
|
NM_001005242.3(PKP2):c.224-3C>G
|
rs786204387
|
|
NM_001005242.3(PKP2):c.2242A>G (p.Thr748Ala)
|
|
|
NM_001005242.3(PKP2):c.2247C>A (p.Ala749=)
|
|
|
NM_001005242.3(PKP2):c.2249C>T (p.Ser750Phe)
|
|
|
NM_001005242.3(PKP2):c.2251G>A (p.Ala751Thr)
|
|
|
NM_001005242.3(PKP2):c.2251G>C (p.Ala751Pro)
|
|
|
NM_001005242.3(PKP2):c.2251G>T (p.Ala751Ser)
|
|
|
NM_001005242.3(PKP2):c.2253C>A (p.Ala751=)
|
|
|
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)
|
rs794729098
|
|
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)
|
rs1270283587
|
|
NM_001005242.3(PKP2):c.2262A>G (p.Thr754=)
|
rs2137708394
|
|
NM_001005242.3(PKP2):c.2265G>A (p.Leu755=)
|
rs267603441
|
|
NM_001005242.3(PKP2):c.2267ACA[1] (p.Asn757del)
|
|
|
NM_001005242.3(PKP2):c.2271C>T (p.Asn757=)
|
|
|
NM_001005242.3(PKP2):c.2272A>G (p.Ile758Val)
|
rs1956121104
|
|
NM_001005242.3(PKP2):c.2273T>C (p.Ile758Thr)
|
|
|
NM_001005242.3(PKP2):c.2276del (p.Ile759fs)
|
rs1956120988
|
|
NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met)
|
rs1956120923
|
|
NM_001005242.3(PKP2):c.2282del (p.Asn761fs)
|
rs1956120794
|
|
NM_001005242.3(PKP2):c.2283C>T (p.Asn761=)
|
|
|
NM_001005242.3(PKP2):c.2284A>T (p.Ser762Cys)
|
|
|
NM_001005242.3(PKP2):c.2288A>T (p.Tyr763Phe)
|
rs2137708194
|
|
NM_001005242.3(PKP2):c.2289C>A (p.Tyr763Ter)
|
|
|
NM_001005242.3(PKP2):c.2289C>G (p.Tyr763Ter)
|
|
|
NM_001005242.3(PKP2):c.2292G>C (p.Gln764His)
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2300G>C (p.Arg767Pro)
|
rs533884071
|
|
NM_001005242.3(PKP2):c.2303A>G (p.Asp768Gly)
|
|
|
NM_001005242.3(PKP2):c.2307T>C (p.Leu769=)
|
|
|
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro)
|
rs754446972
|
|
NM_001005242.3(PKP2):c.2318G>A (p.Gly773Glu)
|
rs1956119815
|
|
NM_001005242.3(PKP2):c.2319G>A (p.Gly773=)
|
|
|
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)
|
rs1592726250
|
|
NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp)
|
rs1192534020
|
|
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)
|
rs1192534020
|
|
NM_001005242.3(PKP2):c.2323A>T (p.Ile775Phe)
|
|
|
NM_001005242.3(PKP2):c.2326C>A (p.Gln776Lys)
|
|
|
NM_001005242.3(PKP2):c.2340C>T (p.Ala780=)
|
|
|
NM_001005242.3(PKP2):c.2346T>C (p.Ser782=)
|
rs2137707818
|
|
NM_001005242.3(PKP2):c.2346del (p.Ser782fs)
|
|
|
NM_001005242.3(PKP2):c.234C>G (p.His78Gln)
|
|
|
NM_001005242.3(PKP2):c.234C>T (p.His78=)
|
rs1591829350
|
|
NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr)
|
rs768463319
|
|
NM_001005242.3(PKP2):c.2357+12_2357+13insC
|
rs1555141019
|
|
NM_001005242.3(PKP2):c.2357+13G>A
|
|
|
NM_001005242.3(PKP2):c.2357+13del
|
rs2137707621
|
|
NM_001005242.3(PKP2):c.2357+1G>T
|
rs111517471
|
|
NM_001005242.3(PKP2):c.2357+5G>A
|
rs1555141020
|
|
NM_001005242.3(PKP2):c.2357+6T>A
|
rs1956118785
|
|
NM_001005242.3(PKP2):c.2357+6T>G
|
|
|
NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)
|
|
|
NM_001005242.3(PKP2):c.2358-10T>C
|
|
|
NM_001005242.3(PKP2):c.2358-14C>A
|
|
|
NM_001005242.3(PKP2):c.2358-15T>A
|
|
|
NM_001005242.3(PKP2):c.2358-1_2358delinsTT
|
rs1956082403
|
|
NM_001005242.3(PKP2):c.2358-20G>T
|
|
|
NM_001005242.3(PKP2):c.2358-3C>G
|
rs1565571096
|
|
NM_001005242.3(PKP2):c.2358-9T>C
|
rs1592724586
|
|
NM_001005242.3(PKP2):c.2358C>T (p.Ala786=)
|
rs1555140707
|
|
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
|
|
|
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
|
|
|
NM_001005242.3(PKP2):c.2362G>T (p.Ala788Ser)
|
rs1956082270
|
|
NM_001005242.3(PKP2):c.2367C>T (p.Ser789=)
|
rs1330430218
|
|
NM_001005242.3(PKP2):c.2368A>G (p.Asn790Asp)
|
|
|
NM_001005242.3(PKP2):c.2369A>G (p.Asn790Ser)
|
|
|
NM_001005242.3(PKP2):c.2370C>A (p.Asn790Lys)
|
|
|
NM_001005242.3(PKP2):c.2370C>G (p.Asn790Lys)
|
rs775519219
|
|
NM_001005242.3(PKP2):c.2374G>A (p.Ala792Thr)
|
|
|
NM_001005242.3(PKP2):c.2375C>A (p.Ala792Glu)
|
rs759322948
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)
|
rs1247384437
|
|
NM_001005242.3(PKP2):c.2383G>A (p.Ala795Thr)
|
|
|
NM_001005242.3(PKP2):c.2384C>T (p.Ala795Val)
|
|
|
NM_001005242.3(PKP2):c.2387C>T (p.Ala796Val)
|
rs267603440
|
|
NM_001005242.3(PKP2):c.2388T>G (p.Ala796=)
|
rs1956081645
|
|
NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)
|
rs2137698131
|
|
NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)
|
rs794729100
|
|
NM_001005242.3(PKP2):c.2402A>T (p.Tyr801Phe)
|
rs1060501187
|
|
NM_001005242.3(PKP2):c.2404T>C (p.Ser802Pro)
|
rs1183143350
|
|
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
|
|
|
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)
|
rs768808114
|
|
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs)
|
rs2137698036
|
|
NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)
|
|
|
NM_001005242.3(PKP2):c.2418C>T (p.His806=)
|
rs756749174
|
|
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys)
|
rs727505312
|
|
NM_001005242.3(PKP2):c.2422del (p.Glu808fs)
|
rs1353074803
|
|
NM_001005242.3(PKP2):c.2427G>A (p.Leu809=)
|
|
|
NM_001005242.3(PKP2):c.2437_2445+41del
|
rs1064792928
|
|
NM_001005242.3(PKP2):c.2440AAG[1] (p.Lys815del)
|
|
|
NM_001005242.3(PKP2):c.2445+11G>A
|
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
NM_001005242.3(PKP2):c.2445+16A>G
|
rs1956080169
|
|
NM_001005242.3(PKP2):c.2445+17G>A
|
|
|
NM_001005242.3(PKP2):c.2445+18G>A
|
|
|
NM_001005242.3(PKP2):c.2445+3A>G
|
rs1956080399
|
|
NM_001005242.3(PKP2):c.2445+8C>G
|
rs2137697843
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
NM_001005242.3(PKP2):c.2446-11T>C
|
|
|
NM_001005242.3(PKP2):c.2446-17G>A
|
|
|
NM_001005242.3(PKP2):c.2446-1G>A
|
|
|
NM_001005242.3(PKP2):c.2446-3A>G
|
rs1956078300
|
|
NM_001005242.3(PKP2):c.2446-4A>G
|
|
|
NM_001005242.3(PKP2):c.2446-5del
|
|
|
NM_001005242.3(PKP2):c.2446-8T>G
|
rs794729101
|
|
NM_001005242.3(PKP2):c.2446-9A>T
|
rs1057524088
|
|
NM_001005242.3(PKP2):c.2448T>C (p.Ala816=)
|
|
|
NM_001005242.3(PKP2):c.2451G>T (p.Gln817His)
|
|
|
NM_001005242.3(PKP2):c.2455A>C (p.Lys819Gln)
|
rs1235732912
|
|
NM_001005242.3(PKP2):c.2460G>A (p.Lys820=)
|
|
|
NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)
|
|
|
NM_001005242.3(PKP2):c.2462C>T (p.Thr821Ile)
|
|
|
NM_001005242.3(PKP2):c.2466_2469del (p.Asp822fs)
|
rs1956077836
|
|
NM_001005242.3(PKP2):c.2470G>A (p.Val824Ile)
|
|
|
NM_001005242.3(PKP2):c.2471T>G (p.Val824Gly)
|
|
|
NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)
|
|
|
NM_001005242.3(PKP2):c.2474A>C (p.Asn825Thr)
|
|
|
NM_001005242.3(PKP2):c.2485G>A (p.Ala829Thr)
|
|
|
NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)
|
rs1956077369
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
NM_001005242.3(PKP2):c.2501C>T (p.Ser834Phe)
|
rs1216433436
|
|
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg)
|
rs775572104
|
|
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser)
|
rs756468173
|
|
NM_001005242.3(PKP2):c.2511C>T (p.Asp837=)
|
|
|
NM_001005242.3(PKP2):c.251del (p.Pro84fs)
|
|
|
NM_001005242.3(PKP2):c.252T>G (p.Pro84=)
|
rs1591829338
|
|
NM_001005242.3(PKP2):c.253G>A (p.Glu85Lys)
|
rs2137953226
|
|
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter)
|
rs2137953226
|
|
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)
|
rs786204388
|
|
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs)
|
rs794729120
|
|
NM_001005242.3(PKP2):c.257A>G (p.Tyr86Cys)
|
|
|
NM_001005242.3(PKP2):c.258T>C (p.Tyr86=)
|
|
|
NM_001005242.3(PKP2):c.261C>T (p.Val87=)
|
|
|
NM_001005242.3(PKP2):c.265A>T (p.Asn89Tyr)
|
rs1335621190
|
|
NM_001005242.3(PKP2):c.273C>T (p.His91=)
|
|
|
NM_001005242.3(PKP2):c.274T>C (p.Leu92=)
|
|
|
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val)
|
rs773851296
|
|
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter)
|
rs763639737
|
|
NM_001005242.3(PKP2):c.275T>C (p.Leu92Ser)
|
|
|
NM_001005242.3(PKP2):c.276G>T (p.Leu92Phe)
|
|
|
NM_001005242.3(PKP2):c.278T>G (p.Val93Gly)
|
rs2137952929
|
|
NM_001005242.3(PKP2):c.28T>C (p.Tyr10His)
|
rs1237779872
|
|
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs)
|
rs2137952811
|
|
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr)
|
rs1957129506
|
|
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
|
|
|
NM_001005242.3(PKP2):c.305C>T (p.Ser102Phe)
|
rs990377209
|
|
NM_001005242.3(PKP2):c.306C>T (p.Ser102=)
|
|
|
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)
|
rs139215336
|
|
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser)
|
rs139215336
|
|
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
|
|
|
NM_001005242.3(PKP2):c.309T>C (p.Pro103=)
|
rs2137952679
|
|
NM_001005242.3(PKP2):c.30C>T (p.Tyr10=)
|
|
|
NM_001005242.3(PKP2):c.313C>G (p.Pro105Ala)
|
rs375035084
|
|
NM_001005242.3(PKP2):c.31G>T (p.Gly11Cys)
|
rs1250140346
|
|
NM_001005242.3(PKP2):c.323A>G (p.Tyr108Cys)
|
|
|
NM_001005242.3(PKP2):c.327C>T (p.Asp109=)
|
rs1285494956
|
|
NM_001005242.3(PKP2):c.329dup (p.Met110fs)
|
rs2137952495
|
|
NM_001005242.3(PKP2):c.32G>C (p.Gly11Ala)
|
rs1359957288
|
|
NM_001005242.3(PKP2):c.335dup (p.Ala113fs)
|
|
|
NM_001005242.3(PKP2):c.336+10C>G
|
rs2137952378
|
|
NM_001005242.3(PKP2):c.336+14G>T
|
|
|
NM_001005242.3(PKP2):c.336+16A>C
|
|
|
NM_001005242.3(PKP2):c.336+17dup
|
rs2137952357
|
|
NM_001005242.3(PKP2):c.336+1G>A
|
|
|
NM_001005242.3(PKP2):c.336+1G>T
|
rs2137952423
|
|
NM_001005242.3(PKP2):c.336+20A>G
|
|
|
NM_001005242.3(PKP2):c.336+7del
|
|
|
NM_001005242.3(PKP2):c.336+8del
|
rs1591829238
|
|
NM_001005242.3(PKP2):c.336G>A (p.Lys112=)
|
rs2137952432
|
|
NM_001005242.3(PKP2):c.337-13C>A
|
|
|
NM_001005242.3(PKP2):c.337-19T>G
|
rs780342528
|
|
NM_001005242.3(PKP2):c.337-2A>T
|
rs786204389
|
|
NM_001005242.3(PKP2):c.337-4G>A
|
rs751175344
|
|
NM_001005242.3(PKP2):c.337-7T>C
|
|
|
NM_001005242.3(PKP2):c.337-8A>G
|
|
|
NM_001005242.3(PKP2):c.337-8_337-7del
|
|
|
NM_001005242.3(PKP2):c.337G>T (p.Ala113Ser)
|
|
|
NM_001005242.3(PKP2):c.343A>G (p.Thr115Ala)
|
|
|
NM_001005242.3(PKP2):c.348T>A (p.Thr116=)
|
|
|
NM_001005242.3(PKP2):c.356A>T (p.Tyr119Phe)
|
|
|
NM_001005242.3(PKP2):c.357T>C (p.Tyr119=)
|
rs758097199
|
|
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
|
|
|
NM_001005242.3(PKP2):c.359A>C (p.Glu120Ala)
|
|
|
NM_001005242.3(PKP2):c.365G>A (p.Arg122His)
|
rs201306582
|
|
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu)
|
rs201306582
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)
|
rs774663443
|
|
NM_001005242.3(PKP2):c.36C>T (p.Tyr12=)
|
|
|
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
|
|
|
NM_001005242.3(PKP2):c.379dup (p.Thr127fs)
|
rs2137950985
|
|
NM_001005242.3(PKP2):c.385C>T (p.Gln129Ter)
|
|
|
NM_001005242.3(PKP2):c.387G>T (p.Gln129His)
|
|
|
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn)
|
rs775889367
|
|
NM_001005242.3(PKP2):c.390C>T (p.Tyr130=)
|
rs763303290
|
|
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)
|
rs794729132
|
|
NM_001005242.3(PKP2):c.402G>A (p.Lys134=)
|
|
|
NM_001005242.3(PKP2):c.406G>A (p.Val136Met)
|
rs567795321
|
|
NM_001005242.3(PKP2):c.406G>T (p.Val136Leu)
|
rs567795321
|
|
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
|
|
|
NM_001005242.3(PKP2):c.411A>G (p.Glu137=)
|
rs1591829029
|
|
NM_001005242.3(PKP2):c.416G>C (p.Arg139Thr)
|
|
|
NM_001005242.3(PKP2):c.417G>A (p.Arg139=)
|
|
|
NM_001005242.3(PKP2):c.41G>A (p.Arg14Gln)
|
|
|
NM_001005242.3(PKP2):c.420C>T (p.Ser140=)
|
rs2389115
|
|
NM_001005242.3(PKP2):c.427C>T (p.His143Tyr)
|
|
|
NM_001005242.3(PKP2):c.428_430dup (p.His143dup)
|
rs2137950571
|
|
NM_001005242.3(PKP2):c.433C>G (p.Leu145Val)
|
|
|
NM_001005242.3(PKP2):c.433C>T (p.Leu145=)
|
|
|
NM_001005242.3(PKP2):c.433_434del (p.Leu145fs)
|
|
|
NM_001005242.3(PKP2):c.438G>A (p.Arg146=)
|
|
|
NM_001005242.3(PKP2):c.440G>C (p.Arg147Thr)
|
rs1956955311
|
|
NM_001005242.3(PKP2):c.447G>A (p.Glu149=)
|
|
|
NM_001005242.3(PKP2):c.453T>C (p.Ser151=)
|
|
|
NM_001005242.3(PKP2):c.45C>A (p.Thr15=)
|
rs759214983
|
|
NM_001005242.3(PKP2):c.460A>G (p.Ser154Gly)
|
rs1956955101
|
|
NM_001005242.3(PKP2):c.462C>T (p.Ser154=)
|
|
|
NM_001005242.3(PKP2):c.463A>G (p.Ser155Gly)
|
|
|
NM_001005242.3(PKP2):c.464dup (p.Ser155fs)
|
rs2137950376
|
|
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala)
|
rs794729102
|
|
NM_001005242.3(PKP2):c.469G>A (p.Glu157Lys)
|
rs1956954911
|
|
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs)
|
rs2137950267
|
|
NM_001005242.3(PKP2):c.476C>T (p.Ala159Val)
|
|
|
NM_001005242.3(PKP2):c.482A>G (p.Tyr161Cys)
|
|
|
NM_001005242.3(PKP2):c.488A>G (p.His163Arg)
|
|
|
NM_001005242.3(PKP2):c.489C>T (p.His163=)
|
rs771398047
|
|
NM_001005242.3(PKP2):c.497_498del (p.Tyr166fs)
|
|
|
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter)
|
rs1565599473
|
|
NM_001005242.3(PKP2):c.502T>C (p.Tyr168His)
|
rs1956954455
|
|
NM_001005242.3(PKP2):c.510G>A (p.Gln170=)
|
rs1591828909
|
|
NM_001005242.3(PKP2):c.514A>C (p.Ser172Arg)
|
rs2137949935
|
|
NM_001005242.3(PKP2):c.516C>T (p.Ser172=)
|
|
|
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter)
|
rs794729103
|
|
NM_001005242.3(PKP2):c.523G>T (p.Gly175Trp)
|
rs2137949835
|
|
NM_001005242.3(PKP2):c.525G>T (p.Gly175=)
|
|
|
NM_001005242.3(PKP2):c.527A>G (p.His176Arg)
|
rs1380823797
|
|
NM_001005242.3(PKP2):c.528C>T (p.His176=)
|
|
|
NM_001005242.3(PKP2):c.531C>G (p.Thr177=)
|
|
|
NM_001005242.3(PKP2):c.536A>C (p.His179Pro)
|
rs1371222715
|
|
NM_001005242.3(PKP2):c.53G>A (p.Gly18Asp)
|
|
|
NM_001005242.3(PKP2):c.540C>A (p.His180Gln)
|
|
|
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
|
|
|
NM_001005242.3(PKP2):c.549_551del (p.Ser183del)
|
rs1358236902
|
|
NM_001005242.3(PKP2):c.554G>T (p.Arg185Leu)
|
|
|
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
|
|
|
NM_001005242.3(PKP2):c.561C>G (p.Ala187=)
|
|
|
NM_001005242.3(PKP2):c.567A>G (p.Leu189=)
|
rs1555148149
|
|
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
|
|
|
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter)
|
rs532048791
|
|
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)
|
rs532048791
|
|
NM_001005242.3(PKP2):c.584C>T (p.Ala195Val)
|
rs1041783952
|
|
NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys)
|
rs748957791
|
|
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys)
|
rs1040585677
|
|
NM_001005242.3(PKP2):c.596T>A (p.Ile199Asn)
|
|
|
NM_001005242.3(PKP2):c.597C>T (p.Ile199=)
|
rs866985131
|
|
NM_001005242.3(PKP2):c.59A>G (p.Gln20Arg)
|
rs2138011134
|
|
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
|
|
|
NM_001005242.3(PKP2):c.613G>A (p.Ala205Thr)
|
|
|
NM_001005242.3(PKP2):c.621C>A (p.Thr207=)
|
rs2137949092
|
|
NM_001005242.3(PKP2):c.623del (p.Thr208fs)
|
rs794729122
|
|
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys)
|
rs1555148132
|
|
NM_001005242.3(PKP2):c.635G>A (p.Arg212His)
|
rs1369618463
|
|
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
|
|
|
NM_001005242.3(PKP2):c.63C>A (p.Ile21=)
|
|
|
NM_001005242.3(PKP2):c.647C>G (p.Thr216Arg)
|
rs2137948919
|
|
NM_001005242.3(PKP2):c.653dup (p.His218fs)
|
|
|
NM_001005242.3(PKP2):c.654_655del (p.His218fs)
|
rs1591828796
|
|
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
|
|
|
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly)
|
rs1309098966
|
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NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
|
|
|
NM_001005242.3(PKP2):c.657A>G (p.Arg219=)
|
rs750880081
|
|
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter)
|
rs886041322
|
|
NM_001005242.3(PKP2):c.659A>G (p.Gln220Arg)
|
|
|
NM_001005242.3(PKP2):c.663C>T (p.Tyr221=)
|
rs767987619
|
|
NM_001005242.3(PKP2):c.669_671dup (p.Gly224dup)
|
rs2137948788
|
|
NM_001005242.3(PKP2):c.671G>A (p.Gly224Asp)
|
rs942876582
|
|
NM_001005242.3(PKP2):c.671G>T (p.Gly224Val)
|
|
|
NM_001005242.3(PKP2):c.672C>T (p.Gly224=)
|
rs2137948758
|
|
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
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|
|
NM_001005242.3(PKP2):c.68del (p.Gly23fs)
|
rs1555149975
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|
NM_001005242.3(PKP2):c.69A>G (p.Gly23=)
|
rs1591836131
|
|
NM_001005242.3(PKP2):c.703C>T (p.Pro235Ser)
|
|
|
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
|
|
|
NM_001005242.3(PKP2):c.707C>G (p.Ala236Gly)
|
|
|
NM_001005242.3(PKP2):c.70C>T (p.Gln24Ter)
|
|
|
NM_001005242.3(PKP2):c.717C>T (p.Ala239=)
|
rs143777637
|
|
NM_001005242.3(PKP2):c.724A>G (p.Thr242Ala)
|
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
NM_001005242.3(PKP2):c.735G>A (p.Arg245=)
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|
|
NM_001005242.3(PKP2):c.738_742dup (p.Thr248fs)
|
|
|
NM_001005242.3(PKP2):c.739G>A (p.Gly247Arg)
|
|
|
NM_001005242.3(PKP2):c.739G>C (p.Gly247Arg)
|
rs1035589373
|
|
NM_001005242.3(PKP2):c.73C>G (p.Leu25Val)
|
rs1555149974
|
|
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)
|
rs1085307949
|
|
NM_001005242.3(PKP2):c.749G>A (p.Arg250His)
|
rs369332786
|
|
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu)
|
rs369332786
|
|
NM_001005242.3(PKP2):c.750C>T (p.Arg250=)
|
rs1327751203
|
|
NM_001005242.3(PKP2):c.752G>A (p.Ser251Asn)
|
|
|
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
|
|
|
NM_001005242.3(PKP2):c.758G>C (p.Gly253Ala)
|
rs1396012405
|
|
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs)
|
rs2137948074
|
|
NM_001005242.3(PKP2):c.762C>T (p.Asn254=)
|
rs1034147527
|
|
NM_001005242.3(PKP2):c.763C>G (p.Leu255Val)
|
|
|
NM_001005242.3(PKP2):c.764T>C (p.Leu255Pro)
|
|
|
NM_001005242.3(PKP2):c.766T>A (p.Leu256Met)
|
|
|
NM_001005242.3(PKP2):c.771G>A (p.Glu257=)
|
rs1060504159
|
|
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)
|
rs727504430
|
|
NM_001005242.3(PKP2):c.773A>T (p.Lys258Met)
|
|
|
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)
|
rs1425855043
|
|
NM_001005242.3(PKP2):c.779A>G (p.Asn260Ser)
|
|
|
NM_001005242.3(PKP2):c.784C>T (p.Leu262=)
|
|
|
NM_001005242.3(PKP2):c.785T>C (p.Leu262Pro)
|
|
|
NM_001005242.3(PKP2):c.786G>T (p.Leu262=)
|
|
|
NM_001005242.3(PKP2):c.78C>A (p.Asp26Glu)
|
|
|
NM_001005242.3(PKP2):c.792A>C (p.Ala264=)
|
rs2137947897
|
|
NM_001005242.3(PKP2):c.806G>A (p.Gly269Glu)
|
rs1341619257
|
|
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
|
|
|
NM_001005242.3(PKP2):c.809A>G (p.Gln270Arg)
|
|
|
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile)
|
rs876657953
|
|
NM_001005242.3(PKP2):c.822G>C (p.Leu274=)
|
|
|
NM_001005242.3(PKP2):c.827C>T (p.Pro276Leu)
|
|
|
NM_001005242.3(PKP2):c.828C>T (p.Pro276=)
|
rs2137947497
|
|
NM_001005242.3(PKP2):c.830T>G (p.Leu277Arg)
|
|
|
NM_001005242.3(PKP2):c.834G>C (p.Gln278His)
|
|
|
NM_001005242.3(PKP2):c.849C>T (p.Asn283=)
|
|
|
NM_001005242.3(PKP2):c.863CCT[1] (p.Ser289del)
|
|
|
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
|
|
|
NM_001005242.3(PKP2):c.874C>T (p.Gln292Ter)
|
|
|
NM_001005242.3(PKP2):c.875A>C (p.Gln292Pro)
|
|
|
NM_001005242.3(PKP2):c.875A>G (p.Gln292Arg)
|
|
|
NM_001005242.3(PKP2):c.879C>T (p.Ser293=)
|
|
|
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
|
|
|
NM_001005242.3(PKP2):c.891C>G (p.Ser297Arg)
|
rs2137947060
|
|
NM_001005242.3(PKP2):c.893C>T (p.Thr298Ile)
|
rs753271708
|
|
NM_001005242.3(PKP2):c.896G>A (p.Arg299His)
|
rs755425370
|
|
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met)
|
rs553098424
|
|
NM_001005242.3(PKP2):c.89T>A (p.Leu30Gln)
|
rs1957128191
|
|
NM_001005242.3(PKP2):c.905G>A (p.Arg302Lys)
|
|
|
NM_001005242.3(PKP2):c.912T>C (p.Ala304=)
|
rs1591828546
|
|
NM_001005242.3(PKP2):c.916C>A (p.Pro306Thr)
|
rs1209340253
|
|
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser)
|
rs1209340253
|
|
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
|
|
|
NM_001005242.3(PKP2):c.919A>G (p.Ser307Gly)
|
|
|
NM_001005242.3(PKP2):c.920G>T (p.Ser307Ile)
|
|
|
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
|
|
|
NM_001005242.3(PKP2):c.923_1034+262del
|
|
|
NM_001005242.3(PKP2):c.924C>A (p.Val308=)
|
|
|
NM_001005242.3(PKP2):c.924C>T (p.Val308=)
|
rs1956947855
|
|
NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup)
|
rs869025497
|
|
NM_001005242.3(PKP2):c.928G>C (p.Val310Leu)
|
|
|
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs)
|
rs2137946568
|
|
NM_001005242.3(PKP2):c.929_951dup (p.His318fs)
|
rs1064792927
|
|
NM_001005242.3(PKP2):c.92_93insCCGCCCCCGCCCCCGGGCCCGACTGCGCGTGCCCGGCCGGAGCCGCGCCCCCTCCTCAGGGAAGGCCGG (p.Ala31_Leu32insArgProArgProArgAlaArgLeuArgValProGlyArgSerArgAlaProSerSerGlyLysAlaGly)
|
|
|
NM_001005242.3(PKP2):c.934T>C (p.Ser312Pro)
|
rs756604557
|
|
NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg)
|
rs551812289
|
|
NM_001005242.3(PKP2):c.942G>A (p.Gly314=)
|
rs1956947291
|
|
NM_001005242.3(PKP2):c.946A>C (p.Arg316=)
|
|
|
NM_001005242.3(PKP2):c.947G>A (p.Arg316Lys)
|
rs1956947177
|
|
NM_001005242.3(PKP2):c.94C>A (p.Leu32Met)
|
|
|
NM_001005242.3(PKP2):c.951del (p.His318fs)
|
rs1555148048
|
|
NM_001005242.3(PKP2):c.954C>T (p.His318=)
|
|
|
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
|
|
|
NM_001005242.3(PKP2):c.95T>G (p.Leu32Arg)
|
rs1011184194
|
|
NM_001005242.3(PKP2):c.962_965del (p.Val321fs)
|
rs2137946218
|
|
NM_001005242.3(PKP2):c.962del (p.Val321fs)
|
|
|
NM_001005242.3(PKP2):c.963C>G (p.Val321=)
|
|
|
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
|
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
NM_001005242.3(PKP2):c.964G>C (p.Gly322Arg)
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs)
|
rs2137946195
|
|
NM_001005242.3(PKP2):c.968A>G (p.Gln323Arg)
|
rs879096591
|
|
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)
|
rs1555148035
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
NM_001005242.3(PKP2):c.971C>T (p.Ala324Val)
|
rs529523595
|
|
NM_001005242.3(PKP2):c.972G>C (p.Ala324=)
|
rs142636176
|
|
NM_001005242.3(PKP2):c.972G>T (p.Ala324=)
|
rs142636176
|
|
NM_001005242.3(PKP2):c.975C>A (p.Ala325=)
|
rs369921166
|
|
NM_001005242.3(PKP2):c.976G>T (p.Ala326Ser)
|
|
|
NM_001005242.3(PKP2):c.977C>A (p.Ala326Glu)
|
rs762949110
|
|
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.983G>T (p.Gly328Val)
|
rs144651139
|
|
NM_001005242.3(PKP2):c.983dup (p.Ser329fs)
|
rs786205353
|
|
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly)
|
rs779173447
|
|
NM_001005242.3(PKP2):c.985A>T (p.Ser329Cys)
|
rs779173447
|
|
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)
|
rs1373300155
|
|
NM_001005242.3(PKP2):c.987del (p.Ser329fs)
|
rs1432861552
|
|
NM_001005242.3(PKP2):c.988G>A (p.Gly330Arg)
|
|
|
NM_001005242.3(PKP2):c.989G>A (p.Gly330Glu)
|
rs373041797
|
|
NM_001005242.3(PKP2):c.990G>A (p.Gly330=)
|
rs749862514
|
|
NM_001005242.3(PKP2):c.999C>G (p.Leu333=)
|
|
|
NM_001005242.3(PKP2):c.999C>T (p.Leu333=)
|
rs2137945654
|
|
NM_001005242.3(PKP2):c.9C>T (p.Ala3=)
|
|
|
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)
|
rs193922626
|
|
NM_001267550.2(TTN):c.104753T>G (p.Leu34918Ter)
|
|
|
NM_001927.4(DES):c.1315G>A (p.Glu439Lys)
|
rs1114167347
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)
|
rs1114167343
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_004415.4(DSP):c.1141-2A>G
|
rs794728111
|
|
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)
|
rs1236464864
|
|
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)
|
rs1554108477
|
|
NM_004572.3(PKP2):c.-70C>T
|
rs886049327
|
|
NM_004572.3(PKP2):c.-79G>T
|
rs886049328
|
|
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)
|
rs1555144459
|
|
NM_004572.3(PKP2):c.2146-?_2489+?del
|
|
|
NM_004572.3:c.224_1034del
|
|
|
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg)
|
rs1114167344
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly)
|
rs1114167345
|
|
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)
|
rs727505038
|
|