| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.201317635C>A | CA344178240 | PKP1 | c.910C>A (p.Gln304Lys) n.252C>A c.907C>A (p.Gln303Lys) | |
| 1 | g.201317635C= | CA1141581341 | PKP1 | c.910C= (p.Gln304=) n.252C= c.907C= (p.Gln303=) | |
| 1 | g.201317635C>G | CA344178242 | PKP1 | c.910C>G (p.Gln304Glu) n.252C>G c.907C>G (p.Gln303Glu) | |
| 1 | g.201317635C>T | CA118919 | PKP1 | c.910C>T (p.Gln304Ter) n.252C>T c.907C>T (p.Gln303Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317636A= | CA1219691264 | PKP1 | c.911A= (p.Gln304=) n.253A= c.908A= (p.Gln303=) | |
| 1 | g.201317636A>C | CA344178244 | PKP1 | c.911A>C (p.Gln304Pro) n.253A>C c.908A>C (p.Gln303Pro) | |
| 1 | g.201317636A>G | CA344178246 | PKP1 | c.911A>G (p.Gln304Arg) n.253A>G c.908A>G (p.Gln303Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201317636A>T | CA344178248 | PKP1 | c.911A>T (p.Gln304Leu) n.253A>T c.908A>T (p.Gln303Leu) | |
| 1 | g.201317637G>A | CA422716423 | PKP1 | c.912G>A (p.Gln304=) n.254G>A c.909G>A (p.Gln303=) | |
| 1 | g.201317637G>C | CA344178250 | PKP1 | c.912G>C (p.Gln304His) n.254G>C c.909G>C (p.Gln303His) | |
| 1 | g.201317637G>T | CA344178252 | PKP1 | c.912G>T (p.Gln304His) n.254G>T c.909G>T (p.Gln303His) | |
| 1 | g.201317638C>A | CA344178258 | PKP1 | c.913C>A (p.Gln305Lys) n.255C>A c.910C>A (p.Gln304Lys) | |
| 1 | g.201317638C>G | CA344178256 | PKP1 | c.913C>G (p.Gln305Glu) n.255C>G c.910C>G (p.Gln304Glu) | |
| 1 | g.201317638C>T | CA344178254 | PKP1 | c.913C>T (p.Gln305Ter) n.255C>T c.910C>T (p.Gln304Ter) | |
| 1 | g.201317639A= | CA1219691265 | PKP1 | c.914A= (p.Gln305=) n.256A= c.911A= (p.Gln304=) | |
| 1 | g.201317639A>C | CA344178260 | PKP1 | c.914A>C (p.Gln305Pro) n.256A>C c.911A>C (p.Gln304Pro) | |
| 1 | g.201317639A>G | CA344178261 | PKP1 | c.914A>G (p.Gln305Arg) n.256A>G c.911A>G (p.Gln304Arg) | |
| 1 | g.201317639A>T | CA1324238 | PKP1 | c.914A>T (p.Gln305Leu) n.256A>T c.911A>T (p.Gln304Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317640G>A | CA422716424 | PKP1 | c.915G>A (p.Gln305=) n.257G>A c.912G>A (p.Gln304=) | |
| 1 | g.201317640G>C | CA344178264 | PKP1 | c.915G>C (p.Gln305His) n.257G>C c.912G>C (p.Gln304His) | |
| 1 | g.201317640G>T | CA344178266 | PKP1 | c.915G>T (p.Gln305His) n.257G>T c.912G>T (p.Gln304His) | |
| 1 | g.201317641G>A | CA344178267 | PKP1 | c.916G>A (p.Ala306Thr) n.258G>A c.913G>A (p.Ala305Thr) | gnomAD v4 |
| 1 | g.201317641G>C | CA344178268 | PKP1 | c.916G>C (p.Ala306Pro) n.258G>C c.913G>C (p.Ala305Pro) | gnomAD v4 |
| 1 | g.201317641G= | CA1219691266 | PKP1 | c.916G= (p.Ala306=) n.258G= c.913G= (p.Ala305=) | |
| 1 | g.201317641G>T | CA344178270 | PKP1 | c.916G>T (p.Ala306Ser) n.258G>T c.913G>T (p.Ala305Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317642C>A | CA36036638 | PKP1 | c.917C>A (p.Ala306Asp) n.259C>A c.914C>A (p.Ala305Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317642C= | CA1219691267 | PKP1 | c.917C= (p.Ala306=) n.259C= c.914C= (p.Ala305=) | |
| 1 | g.201317642C>G | CA344178273 | PKP1 | c.917C>G (p.Ala306Gly) n.259C>G c.914C>G (p.Ala305Gly) | |
| 1 | g.201317642C>T | CA344178275 | PKP1 | c.917C>T (p.Ala306Val) n.259C>T c.914C>T (p.Ala305Val) | |
| 1 | g.201317643C>A | CA36036640 | PKP1 | c.918C>A (p.Ala306=) n.260C>A c.915C>A (p.Ala305=) | dbSNP |
| 1 | g.201317643C= | CA1139888305 | PKP1 | c.918C= (p.Ala306=) n.260C= c.915C= (p.Ala305=) | |
| 1 | g.201317643C>G | CA422716425 | PKP1 | c.918C>G (p.Ala306=) n.260C>G c.915C>G (p.Ala305=) | |
| 1 | g.201317643C>T | CA1324239 | PKP1 | c.918C>T (p.Ala306=) n.260C>T c.915C>T (p.Ala305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317644G>A | CA1324240 | PKP1 | c.919G>A (p.Ala307Thr) n.261G>A c.916G>A (p.Ala306Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317644G>C | CA344178280 | PKP1 | c.919G>C (p.Ala307Pro) n.261G>C c.916G>C (p.Ala306Pro) | gnomAD v4 |
| 1 | g.201317644G= | CA1141847367 | PKP1 | c.919G= (p.Ala307=) n.261G= c.916G= (p.Ala306=) | |
| 1 | g.201317644G>T | CA1324241 | PKP1 | c.919G>T (p.Ala307Ser) n.261G>T c.916G>T (p.Ala306Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317645C>A | CA344178282 | PKP1 | c.920C>A (p.Ala307Glu) n.262C>A c.917C>A (p.Ala306Glu) | |
| 1 | g.201317645C= | CA1144937924 | PKP1 | c.920C= (p.Ala307=) n.262C= c.917C= (p.Ala306=) | |
| 1 | g.201317645C>G | CA344178284 | PKP1 | c.920C>G (p.Ala307Gly) n.262C>G c.917C>G (p.Ala306Gly) | |
| 1 | g.201317645C>T | CA1324242 | PKP1 | c.920C>T (p.Ala307Val) n.262C>T c.917C>T (p.Ala306Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317646G>A | CA1324243 | PKP1 | c.921G>A (p.Ala307=) n.263G>A c.918G>A (p.Ala306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317646G>C | CA422716426 | PKP1 | c.921G>C (p.Ala307=) n.263G>C c.918G>C (p.Ala306=) | dbSNP |
| 1 | g.201317646G= | CA1146752233 | PKP1 | c.921G= (p.Ala307=) n.263G= c.918G= (p.Ala306=) | |
| 1 | g.201317646G>T | CA422716427 | PKP1 | c.921G>T (p.Ala307=) n.263G>T c.918G>T (p.Ala306=) | dbSNP gnomAD v4 |
| 1 | g.201317647G>A | CA344178292 | PKP1 | c.922G>A (p.Ala308Thr) n.264G>A c.919G>A (p.Ala307Thr) | |
| 1 | g.201317647G>C | CA1324244 | PKP1 | c.922G>C (p.Ala308Pro) n.264G>C c.919G>C (p.Ala307Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317647G= | CA1144383186 | PKP1 | c.922G= (p.Ala308=) n.264G= c.919G= (p.Ala307=) | |
| 1 | g.201317647G>T | CA344178289 | PKP1 | c.922G>T (p.Ala308Ser) n.264G>T c.919G>T (p.Ala307Ser) | gnomAD v4 |
| 1 | g.201317650_201317662del | CA2649779881 | PKP1 | c.925_937del (p.Gly309ThrfsTer26) n.267_279del c.922_934del (p.Gly308ThrfsTer26) | gnomAD v4 |