PKP1 plakophilin 1

Canonical transcript: NM_000299

18 unique variant annotations were identified in 15 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-201252909-T-G c.79T>G p.Ser27Ala Missense 1/15 - 1
1-201253033-G-C c.202+1G>C - IntronicSNV - 1/14 1
1-201256771-G-A c.202+3739G>A - IntronicSNV - 1/14 1
1-201256771-G-T c.202+3739G>T - IntronicSNV - 1/14 1
1-201262432-C-G c.203-638C>G - IntronicSNV - 1/14 2
1-201262432-C-T c.203-638C>T - IntronicSNV - 1/14 2
1-201263069-G-A c.203-1G>A - IntronicSNV - 1/14 1
1-201263069-G-T c.203-1G>T - IntronicSNV - 1/14 1
1-201263080-T-A c.213T>A p.Tyr71* Nonsense 2/15 - 1
1-201263080-T-G c.213T>G p.Tyr71* Nonsense 2/15 - 1
1-201263150-G-A c.283G>A p.Gly95Arg Missense 2/15 - 1
1-201263150-G-C c.283G>C p.Gly95Arg Missense 2/15 - 1
1-201282549-AG-GT c.562_563delinsGT p.Ser188Val Missense 3/15 - 1
1-201285776-C-A c.797C>A p.Ala266Asp Missense 4/15 - 1
1-201286678-C-T c.847-22C>T - IntronicSNV - 4/14 1
1-201286763-C-T c.910C>T p.Gln304* Nonsense 5/15 - 3
1-201288898-A-C c.1233-46A>C - IntronicSNV - 6/14 1
1-201298156-G-A c.*192G>A - IntronicSNV 15/15 - 1