All transcript variants in gene PKP4

Information The variants shown are described using the NM_001005476.1 transcript reference sequence.

213 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-5-40C>T r.(=) p.(=) g.159389652C>T Copied from the Exome Variant Server PKP4_000001 1/13004 0/8600 1/4404
?/? c.-5-8G>C r.(=) p.(=) g.159389684G>C Copied from the Exome Variant Server PKP4_000002 1/13002 0/8598 1/4404
?/? c.53G>T r.(?) p.(Arg18Leu) g.159389749G>T Copied from the Exome Variant Server PKP4_000003 1/13006 1/8600 0/4406
?/? c.66C>T r.(=) p.(=) g.159389762C>T Copied from the Exome Variant Server PKP4_000004 647/13006 560/8600 87/4406
?/? c.121G>A r.(?) p.(Val41Met) g.159389817G>A Copied from the Exome Variant Server PKP4_000005 3/13006 0/8600 3/4406
?/? c.132+41A>T r.(=) p.(=) g.159389869A>T Copied from the Exome Variant Server PKP4_000006 23/13006 22/8600 1/4406
?/? c.133-50_133-49del r.(=) p.(=) g.159433733_159433734del Copied from the Exome Variant Server PKP4_000007 2/12518 2/8252 0/4266
?/? c.133-28A>G r.(=) p.(=) g.159433755A>G Copied from the Exome Variant Server PKP4_000008 1/13006 1/8600 0/4406
?/? c.158G>A r.(?) p.(Arg53Gln) g.159433808G>A Copied from the Exome Variant Server PKP4_000009 1/13006 0/8600 1/4406
?/? c.245+27T>C r.(=) p.(=) g.159433922T>C Copied from the Exome Variant Server PKP4_000010 3/13006 0/8600 3/4406
?/? c.245+46C>T r.(=) p.(=) g.159433941C>T Copied from the Exome Variant Server PKP4_000011 1/13006 1/8600 0/4406
?/? c.246-48_246-47del r.(=) p.(=) g.159459534_159459535del Copied from the Exome Variant Server PKP4_000012 38/12102 14/8056 24/4046
?/? c.246-15_246-10del r.(=) p.(=) g.159459567_159459572del Copied from the Exome Variant Server PKP4_000013 125/12284 90/8130 35/4154
?/? c.257A>G r.(?) p.(Lys86Arg) g.159459593A>G Copied from the Exome Variant Server PKP4_000014 2/12926 2/8550 0/4376
?/? c.265C>T r.(?) p.(Pro89Ser) g.159459601C>T Copied from the Exome Variant Server PKP4_000015 5/12934 5/8550 0/4384
?/? c.311G>C r.(?) p.(Arg104Thr) g.159477532G>C Copied from the Exome Variant Server PKP4_000016 2/13006 0/8600 2/4406
?/? c.329A>G r.(?) p.(Gln110Arg) g.159477550A>G Copied from the Exome Variant Server PKP4_000017 6/13006 6/8600 0/4406
?/? c.341A>G r.(?) p.(Tyr114Cys) g.159477562A>G Copied from the Exome Variant Server PKP4_000018 1/13006 0/8600 1/4406
?/? c.355G>C r.(?) p.(Glu119Gln) g.159477576G>C Copied from the Exome Variant Server PKP4_000019 1/13006 0/8600 1/4406
?/? c.370A>G r.(?) p.(Thr124Ala) g.159477591A>G Copied from the Exome Variant Server PKP4_000020 1/13006 1/8600 0/4406
?/? c.412+1G>T r.spl? p.? g.159477634G>T Copied from the Exome Variant Server PKP4_000021 1/13006 1/8600 0/4406
?/? c.412+39A>G r.(=) p.(=) g.159477672A>G Copied from the Exome Variant Server PKP4_000022 65/13006 0/8600 65/4406
?/? c.413-52C>T r.(=) p.(=) g.159477691C>T Copied from the Exome Variant Server PKP4_000023 1/5734 0/3982 1/1752
?/? c.413-51G>A r.(=) p.(=) g.159477692G>A Copied from the Exome Variant Server PKP4_000024 5/13006 1/8600 4/4406
?/? c.413-34A>G r.(=) p.(=) g.159477709A>G Copied from the Exome Variant Server PKP4_000025 311/13006 280/8600 31/4406
?/? c.413-30T>C r.(=) p.(=) g.159477713T>C Copied from the Exome Variant Server PKP4_000026 1/13006 0/8600 1/4406
?/? c.413-11C>A r.(=) p.(=) g.159477732C>A Copied from the Exome Variant Server PKP4_000027 15/13006 14/8600 1/4406
?/? c.509G>A r.(?) p.(Ser170Asn) g.159477839G>A Copied from the Exome Variant Server PKP4_000028 1/13006 1/8600 0/4406
?/? c.537A>C r.(=) p.(=) g.159477867A>C Copied from the Exome Variant Server PKP4_000029 221/13006 203/8600 18/4406
?/? c.603+12G>T r.(=) p.(=) g.159477945G>T Copied from the Exome Variant Server PKP4_000030 1/13006 0/8600 1/4406
?/? c.604-41C>T r.(=) p.(=) g.159481349C>T Copied from the Exome Variant Server PKP4_000031 2/13006 0/8600 2/4406
?/? c.604-36A>T r.(=) p.(=) g.159481354A>T Copied from the Exome Variant Server PKP4_000032 1/13006 1/8600 0/4406
?/? c.604-22del r.(=) p.(=) g.159481368del Copied from the Exome Variant Server PKP4_000033 3/12520 2/8254 1/4266
?/? c.604-16C>T r.(=) p.(=) g.159481374C>T Copied from the Exome Variant Server PKP4_000034 1/13006 0/8600 1/4406
?/? c.604-14C>G r.(=) p.(=) g.159481376C>G Copied from the Exome Variant Server PKP4_000035 1/13006 0/8600 1/4406
?/? c.604-5A>G r.spl? p.? g.159481385A>G Copied from the Exome Variant Server PKP4_000036 1/13006 0/8600 1/4406
?/? c.676A>G r.(?) p.(Ile226Val) g.159481462A>G Copied from the Exome Variant Server PKP4_000037 1/13006 0/8600 1/4406
?/? c.701G>T r.(?) p.(Arg234Met) g.159481487G>T Copied from the Exome Variant Server PKP4_000038 1/13006 0/8600 1/4406
?/? c.711G>C r.(=) p.(=) g.159481497G>C Copied from the Exome Variant Server PKP4_000039 1/13006 0/8600 1/4406
?/? c.730G>A r.(?) p.(Gly244Arg) g.159481516G>A Copied from the Exome Variant Server PKP4_000040 1/13006 1/8600 0/4406
?/? c.744G>A r.(=) p.(=) g.159481530G>A Copied from the Exome Variant Server PKP4_000041 59/13006 1/8600 58/4406
?/? c.753C>T r.(=) p.(=) g.159481539C>T Copied from the Exome Variant Server PKP4_000042 4/13006 0/8600 4/4406
?/? c.764C>G r.(?) p.(Pro255Arg) g.159481550C>G Copied from the Exome Variant Server PKP4_000043 1/13006 1/8600 0/4406
?/? c.838G>A r.(?) p.(Ala280Thr) g.159481624G>A Copied from the Exome Variant Server PKP4_000044 2/13006 2/8600 0/4406
?/? c.857G>A r.(?) p.(Arg286Gln) g.159481643G>A Copied from the Exome Variant Server PKP4_000045 3/13006 1/8600 2/4406
?/? c.865G>C r.(?) p.(Gly289Arg) g.159481651G>C Copied from the Exome Variant Server PKP4_000046 1/13006 1/8600 0/4406
?/? c.875C>T r.(?) p.(Thr292Ile) g.159481661C>T Copied from the Exome Variant Server PKP4_000047 1/13006 0/8600 1/4406
?/? c.881G>A r.(?) p.(Arg294Gln) g.159481667G>A Copied from the Exome Variant Server PKP4_000049 2/13006 1/8600 1/4406
?/? c.927C>T r.(=) p.(=) g.159481713C>T Copied from the Exome Variant Server PKP4_000051 1/13006 1/8600 0/4406
?/? c.936G>A r.(=) p.(=) g.159481722G>A Copied from the Exome Variant Server PKP4_000053 1/13006 0/8600 1/4406
?/? c.939G>T r.(=) p.(=) g.159481725G>T Copied from the Exome Variant Server PKP4_000055 1/13006 1/8600 0/4406
?/? c.951C>G r.(=) p.(=) g.159481737C>G Copied from the Exome Variant Server PKP4_000057 1/13006 0/8600 1/4406
?/? c.956C>T r.(?) p.(Thr319Met) g.159481742C>T Copied from the Exome Variant Server PKP4_000059 35/13006 0/8600 35/4406
?/? c.971G>A r.(?) p.(Arg324Gln) g.159481757G>A Copied from the Exome Variant Server PKP4_000061 2/13006 2/8600 0/4406
?/? c.977C>A r.(?) p.(Ala326Asp) g.159481763C>A Copied from the Exome Variant Server PKP4_000063 1/13006 0/8600 1/4406
?/? c.1005G>A r.(=) p.(=) g.159481791G>A Copied from the Exome Variant Server PKP4_000065 1/13006 1/8600 0/4406
?/? c.1018C>T r.(?) p.(Arg340Cys) g.159481804C>T Copied from the Exome Variant Server PKP4_000048 1/13006 0/8600 1/4406
?/? c.1066A>G r.(?) p.(Arg356Gly) g.159481852A>G Copied from the Exome Variant Server PKP4_000050 1/13006 0/8600 1/4406
?/? c.1092C>T r.(=) p.(=) g.159481878C>T Copied from the Exome Variant Server PKP4_000052 1/13006 0/8600 1/4406
?/? c.1143C>G r.(?) p.(Asp381Glu) g.159481929C>G Copied from the Exome Variant Server PKP4_000054 1/13006 1/8600 0/4406
?/? c.1153+14G>A r.(=) p.(=) g.159481953G>A Copied from the Exome Variant Server PKP4_000056 1/12978 1/8576 0/4402
?/? c.1154-17A>G r.(=) p.(=) g.159488248A>G Copied from the Exome Variant Server PKP4_000058 1/13006 1/8600 0/4406
?/? c.1159C>T r.(?) p.(Arg387Trp) g.159488270C>T Copied from the Exome Variant Server PKP4_000060 2/13006 1/8600 1/4406
?/? c.1160G>A r.(?) p.(Arg387Gln) g.159488271G>A Copied from the Exome Variant Server PKP4_000062 1/13006 0/8600 1/4406
?/? c.1205G>A r.(?) p.(Arg402His) g.159488316G>A Copied from the Exome Variant Server PKP4_000064 1/13006 1/8600 0/4406
?/? c.1213G>A r.(?) p.(Val405Met) g.159488324G>A Copied from the Exome Variant Server PKP4_000066 1/13006 0/8600 1/4406
?/? c.1241T>A r.(?) p.(Ile414Lys) g.159488352T>A Copied from the Exome Variant Server PKP4_000067 1/13006 1/8600 0/4406
?/? c.1269A>C r.(=) p.(=) g.159488380A>C Copied from the Exome Variant Server PKP4_000068 6/13006 5/8600 1/4406
?/? c.1303C>T r.(?) p.(Leu435Phe) g.159488414C>T Copied from the Exome Variant Server PKP4_000069 1/13006 0/8600 1/4406
?/? c.1313C>T r.(?) p.(Ser438Leu) g.159488424C>T Copied from the Exome Variant Server PKP4_000070 1/13006 0/8600 1/4406
?/? c.1323G>A r.(=) p.(=) g.159488434G>A Copied from the Exome Variant Server PKP4_000071 21/13006 1/8600 20/4406
?/? c.1342+17T>C r.(=) p.(=) g.159488470T>C Copied from the Exome Variant Server PKP4_000072 1/13006 0/8600 1/4406
?/? c.1342+49del r.(=) p.(=) g.159488502del Copied from the Exome Variant Server PKP4_000073 2/12520 0/8254 2/4266
?/? c.1343-40G>C r.(=) p.(=) g.159490542G>C Copied from the Exome Variant Server PKP4_000074 1/12984 1/8594 0/4390
?/? c.1343-35A>G r.(=) p.(=) g.159490547A>G Copied from the Exome Variant Server PKP4_000075 17/12994 0/8596 17/4398
?/? c.1343-9A>G r.(=) p.(=) g.159490573A>G Copied from the Exome Variant Server PKP4_000077 1/13004 1/8598 0/4406
?/? c.1356T>C r.(=) p.(=) g.159490595T>C Copied from the Exome Variant Server PKP4_000079 1/13006 1/8600 0/4406
?/? c.1379G>A r.(?) p.(Arg460Gln) g.159490618G>A Copied from the Exome Variant Server PKP4_000081 1/13006 1/8600 0/4406
?/? c.1394A>G r.(?) p.(Tyr465Cys) g.159490633A>G Copied from the Exome Variant Server PKP4_000083 1/13006 1/8600 0/4406
?/? c.1434C>T r.(=) p.(=) g.159490673C>T Copied from the Exome Variant Server PKP4_000085 79/13006 76/8600 3/4406
?/? c.1437G>A r.(=) p.(=) g.159490676G>A Copied from the Exome Variant Server PKP4_000086 2/13006 2/8600 0/4406
?/? c.1494G>A r.(=) p.(=) g.159490733G>A Copied from the Exome Variant Server PKP4_000076 1/13006 0/8600 1/4406
?/? c.1519A>G r.(?) p.(Thr507Ala) g.159490758A>G Copied from the Exome Variant Server PKP4_000078 3/13006 3/8600 0/4406
?/? c.1562+2C>T r.spl? p.? g.159490803C>T Copied from the Exome Variant Server PKP4_000080 3/13006 0/8600 3/4406
?/? c.1562+17A>C r.(=) p.(=) g.159490818A>C Copied from the Exome Variant Server PKP4_000082 1/13006 1/8600 0/4406
?/? c.1563-50A>G r.(=) p.(=) g.159497089A>G Copied from the Exome Variant Server PKP4_000084 1/13006 1/8600 0/4406
?/? c.1563-39A>G r.(=) p.(=) g.159497100A>G Copied from the Exome Variant Server PKP4_000087 722/13006 87/8600 635/4406
?/? c.1577G>A r.(?) p.(Arg526His) g.159497153G>A Copied from the Exome Variant Server PKP4_000088 1/13006 0/8600 1/4406
?/? c.1587G>A r.(=) p.(=) g.159497163G>A Copied from the Exome Variant Server PKP4_000089 2/13006 2/8600 0/4406
?/? c.1623C>T r.(=) p.(=) g.159497199C>T Copied from the Exome Variant Server PKP4_000090 1/13006 1/8600 0/4406
?/? c.1647G>A r.(=) p.(=) g.159497223G>A Copied from the Exome Variant Server PKP4_000091 3/13006 3/8600 0/4406
?/? c.1695+10A>C r.(=) p.(=) g.159497281A>C Copied from the Exome Variant Server PKP4_000092 1/13006 1/8600 0/4406
?/? c.1695+15G>A r.(=) p.(=) g.159497286G>A Copied from the Exome Variant Server PKP4_000094 4/13006 0/8600 4/4406
?/? c.1695+25A>T r.(=) p.(=) g.159497296A>T Copied from the Exome Variant Server PKP4_000096 5/13006 0/8600 5/4406
?/? c.1696-51C>T r.(=) p.(=) g.159498947C>T Copied from the Exome Variant Server PKP4_000098 351/13006 51/8600 300/4406
?/? c.1697T>G r.(?) p.(Val566Gly) g.159498999T>G Copied from the Exome Variant Server PKP4_000100 1/13006 1/8600 0/4406
?/? c.1704G>A r.(=) p.(=) g.159499006G>A Copied from the Exome Variant Server PKP4_000102 4/13006 4/8600 0/4406
?/? c.1713A>C r.(=) p.(=) g.159499015A>C Copied from the Exome Variant Server PKP4_000104 1/13006 0/8600 1/4406
?/? c.1739A>G r.(?) p.(Asp580Gly) g.159499041A>G Copied from the Exome Variant Server PKP4_000106 1/13006 1/8600 0/4406
?/? c.1791C>T r.(=) p.(=) g.159499093C>T Copied from the Exome Variant Server PKP4_000108 1/13006 1/8600 0/4406
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