UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.201317648C>A | CA344178294 | PKP1 | c.923C>A (p.Ala308Glu) n.265C>A c.920C>A (p.Ala307Glu) | gnomAD v4 |
| 1 | g.201317648C>G | CA344178296 | PKP1 | c.923C>G (p.Ala308Gly) n.265C>G c.920C>G (p.Ala307Gly) | |
| 1 | g.201317648C>T | CA344178298 | PKP1 | c.923C>T (p.Ala308Val) n.265C>T c.920C>T (p.Ala307Val) | |
| 1 | g.201317649A= | CA1219691268 | PKP1 | c.924A= (p.Ala308=) n.266A= c.921A= (p.Ala307=) | |
| 1 | g.201317649A>C | CA422716428 | PKP1 | c.924A>C (p.Ala308=) n.266A>C c.921A>C (p.Ala307=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317649A>G | CA422716429 | PKP1 | c.924A>G (p.Ala308=) n.266A>G c.921A>G (p.Ala307=) | |
| 1 | g.201317649A>T | CA422716430 | PKP1 | c.924A>T (p.Ala308=) n.266A>T c.921A>T (p.Ala307=) | |
| 1 | g.201317650G>A | CA344178300 | PKP1 | c.925G>A (p.Gly309Arg) n.267G>A c.922G>A (p.Gly308Arg) | |
| 1 | g.201317650G>C | CA344178302 | PKP1 | c.925G>C (p.Gly309Arg) n.267G>C c.922G>C (p.Gly308Arg) | |
| 1 | g.201317650G= | CA1219691269 | PKP1 | c.925G= (p.Gly309=) n.267G= c.922G= (p.Gly308=) | |
| 1 | g.201317650G>T | CA344178304 | PKP1 | c.925G>T (p.Gly309Trp) n.267G>T c.922G>T (p.Gly308Trp) | dbSNP gnomAD v2 |
| 1 | g.201317651G>A | CA1324245 | PKP1 | c.926G>A (p.Gly309Glu) n.268G>A c.923G>A (p.Gly308Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317651G>C | CA344178308 | PKP1 | c.926G>C (p.Gly309Ala) n.268G>C c.923G>C (p.Gly308Ala) | |
| 1 | g.201317651G= | CA1219691270 | PKP1 | c.926G= (p.Gly309=) n.268G= c.923G= (p.Gly308=) | |
| 1 | g.201317651G>T | CA344178306 | PKP1 | c.926G>T (p.Gly309Val) n.268G>T c.923G>T (p.Gly308Val) | |
| 1 | g.201317652G>A | CA422716431 | PKP1 | c.927G>A (p.Gly309=) n.269G>A c.924G>A (p.Gly308=) | gnomAD v4 |
| 1 | g.201317652G>C | CA422716433 | PKP1 | c.927G>C (p.Gly309=) n.269G>C c.924G>C (p.Gly308=) | dbSNP |
| 1 | g.201317652G= | CA1219691271 | PKP1 | c.927G= (p.Gly309=) n.269G= c.924G= (p.Gly308=) | |
| 1 | g.201317652G>T | CA422716432 | PKP1 | c.927G>T (p.Gly309=) n.269G>T c.924G>T (p.Gly308=) | |
| 1 | g.201317653G>A | CA1324246 | PKP1 | c.928G>A (p.Ala310Thr) n.270G>A c.925G>A (p.Ala309Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317653G>C | CA344178313 | PKP1 | c.928G>C (p.Ala310Pro) n.270G>C c.925G>C (p.Ala309Pro) | gnomAD v4 |
| 1 | g.201317653G= | CA1148448138 | PKP1 | c.928G= (p.Ala310=) n.270G= c.925G= (p.Ala309=) | |
| 1 | g.201317653G>T | CA344178312 | PKP1 | c.928G>T (p.Ala310Ser) n.270G>T c.925G>T (p.Ala309Ser) | |
| 1 | g.201317654C>A | CA344178316 | PKP1 | c.929C>A (p.Ala310Asp) n.271C>A c.926C>A (p.Ala309Asp) | |
| 1 | g.201317654C= | CA1219691272 | PKP1 | c.929C= (p.Ala310=) n.271C= c.926C= (p.Ala309=) | |
| 1 | g.201317654C>G | CA1324247 | PKP1 | c.929C>G (p.Ala310Gly) n.271C>G c.926C>G (p.Ala309Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317654C>T | CA344178317 | PKP1 | c.929C>T (p.Ala310Val) n.271C>T c.926C>T (p.Ala309Val) | dbSNP |
| 1 | g.201317655C>A | CA422716435 | PKP1 | c.930C>A (p.Ala310=) n.272C>A c.927C>A (p.Ala309=) | |
| 1 | g.201317655C= | CA1219691273 | PKP1 | c.930C= (p.Ala310=) n.272C= c.927C= (p.Ala309=) | |
| 1 | g.201317655C>G | CA422716434 | PKP1 | c.930C>G (p.Ala310=) n.272C>G c.927C>G (p.Ala309=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201317655C>T | CA1324248 | PKP1 | c.930C>T (p.Ala310=) n.272C>T c.927C>T (p.Ala309=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317656C>A | CA344178320 | PKP1 | c.931C>A (p.Leu311Met) n.273C>A c.928C>A (p.Leu310Met) | |
| 1 | g.201317656C>G | CA344178321 | PKP1 | c.931C>G (p.Leu311Val) n.273C>G c.928C>G (p.Leu310Val) | gnomAD v4 |
| 1 | g.201317656C>T | CA422716436 | PKP1 | c.931C>T (p.Leu311=) n.273C>T c.928C>T (p.Leu310=) | |
| 1 | g.201317657T>A | CA344178324 | PKP1 | c.932T>A (p.Leu311Gln) n.274T>A c.929T>A (p.Leu310Gln) | |
| 1 | g.201317657T>C | CA1324249 | PKP1 | c.932T>C (p.Leu311Pro) n.274T>C c.929T>C (p.Leu310Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317657T>G | CA344178325 | PKP1 | c.932T>G (p.Leu311Arg) n.274T>G c.929T>G (p.Leu310Arg) | |
| 1 | g.201317657T= | CA1148271768 | PKP1 | c.932T= (p.Leu311=) n.274T= c.929T= (p.Leu310=) | |
| 1 | g.201317658G>A | CA422716437 | PKP1 | c.933G>A (p.Leu311=) n.275G>A c.930G>A (p.Leu310=) | gnomAD v4 |
| 1 | g.201317658G>C | CA422716439 | PKP1 | c.933G>C (p.Leu311=) n.275G>C c.930G>C (p.Leu310=) | |
| 1 | g.201317658G>T | CA422716438 | PKP1 | c.933G>T (p.Leu311=) n.275G>T c.930G>T (p.Leu310=) | |
| 1 | g.201317659C>A | CA344178327 | PKP1 | c.934C>A (p.Arg312Ser) n.276C>A c.931C>A (p.Arg311Ser) | gnomAD v4 |
| 1 | g.201317659C= | CA1219691274 | PKP1 | c.934C= (p.Arg312=) n.276C= c.931C= (p.Arg311=) | |
| 1 | g.201317659C>G | CA344178329 | PKP1 | c.934C>G (p.Arg312Gly) n.276C>G c.931C>G (p.Arg311Gly) | |
| 1 | g.201317659C>T | CA344178330 | PKP1 | c.934C>T (p.Arg312Cys) n.276C>T c.931C>T (p.Arg311Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201317660G>A | CA1324250 | PKP1 | c.935G>A (p.Arg312His) n.277G>A c.932G>A (p.Arg311His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317660G>C | CA344178333 | PKP1 | c.935G>C (p.Arg312Pro) n.277G>C c.932G>C (p.Arg311Pro) | gnomAD v4 |
| 1 | g.201317660G= | CA1219691275 | PKP1 | c.935G= (p.Arg312=) n.277G= c.932G= (p.Arg311=) | |
| 1 | g.201317660G>T | CA344178331 | PKP1 | c.935G>T (p.Arg312Leu) n.277G>T c.932G>T (p.Arg311Leu) | gnomAD v4 |
| 1 | g.201317661C>A | CA422716440 | PKP1 | c.936C>A (p.Arg312=) n.278C>A c.933C>A (p.Arg311=) | |
| 1 | g.201317661C>G | CA422716441 | PKP1 | c.936C>G (p.Arg312=) n.278C>G c.933C>G (p.Arg311=) | gnomAD v4 |
| 1 | g.201317661C>T | CA422716442 | PKP1 | c.936C>T (p.Arg312=) n.278C>T c.933C>T (p.Arg311=) | |
| 1 | g.201317662A= | CA1219691276 | PKP1 | c.937A= (p.Asn313=) n.279A= c.934A= (p.Asn312=) | |
| 1 | g.201317662A>C | CA344178337 | PKP1 | c.937A>C (p.Asn313His) n.279A>C c.934A>C (p.Asn312His) | |
| 1 | g.201317662A>G | CA1324251 | PKP1 | c.937A>G (p.Asn313Asp) n.279A>G c.934A>G (p.Asn312Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317662A>T | CA344178339 | PKP1 | c.937A>T (p.Asn313Tyr) n.279A>T c.934A>T (p.Asn312Tyr) | |
| 1 | g.201317663A= | CA1219691277 | PKP1 | c.938A= (p.Asn313=) n.280A= c.935A= (p.Asn312=) | |
| 1 | g.201317663A>C | CA344178341 | PKP1 | c.938A>C (p.Asn313Thr) n.280A>C c.935A>C (p.Asn312Thr) | |
| 1 | g.201317663A>G | CA344178343 | PKP1 | c.938A>G (p.Asn313Ser) n.280A>G c.935A>G (p.Asn312Ser) | |
| 1 | g.201317663A>T | CA344178345 | PKP1 | c.938A>T (p.Asn313Ile) n.280A>T c.935A>T (p.Asn312Ile) | dbSNP gnomAD v4 |
| 1 | g.201317664C>A | CA344178346 | PKP1 | c.939C>A (p.Asn313Lys) n.281C>A c.936C>A (p.Asn312Lys) | |
| 1 | g.201317664C>G | CA344178347 | PKP1 | c.939C>G (p.Asn313Lys) n.281C>G c.936C>G (p.Asn312Lys) | |
| 1 | g.201317664C>T | CA422716443 | PKP1 | c.939C>T (p.Asn313=) n.281C>T c.936C>T (p.Asn312=) | gnomAD v4 |
| 1 | g.201317665C>A | CA344178350 | PKP1 | c.940C>A (p.Leu314Met) n.282C>A c.937C>A (p.Leu313Met) | |
| 1 | g.201317665C= | CA1219691278 | PKP1 | c.940C= (p.Leu314=) n.282C= c.937C= (p.Leu313=) | |
| 1 | g.201317665C>G | CA344178352 | PKP1 | c.940C>G (p.Leu314Val) n.282C>G c.937C>G (p.Leu313Val) | dbSNP gnomAD v4 |
| 1 | g.201317665C>T | CA422716444 | PKP1 | c.940C>T (p.Leu314=) n.282C>T c.937C>T (p.Leu313=) | |
| 1 | g.201317666T>A | CA344178353 | PKP1 | c.941T>A (p.Leu314Gln) n.283T>A c.938T>A (p.Leu313Gln) | gnomAD v4 |
| 1 | g.201317666T>C | CA344178354 | PKP1 | c.941T>C (p.Leu314Pro) n.283T>C c.938T>C (p.Leu313Pro) | |
| 1 | g.201317666T>G | CA344178356 | PKP1 | c.941T>G (p.Leu314Arg) n.283T>G c.938T>G (p.Leu313Arg) | |
| 1 | g.201317667G>A | CA422716445 | PKP1 | c.942G>A (p.Leu314=) n.284G>A c.939G>A (p.Leu313=) | |
| 1 | g.201317667G>C | CA1324252 | PKP1 | c.942G>C (p.Leu314=) n.284G>C c.939G>C (p.Leu313=) | dbSNP ExAC gnomAD v2 |
| 1 | g.201317667G= | CA1219691279 | PKP1 | c.942G= (p.Leu314=) n.284G= c.939G= (p.Leu313=) | |
| 1 | g.201317667G>T | CA422716446 | PKP1 | c.942G>T (p.Leu314=) n.284G>T c.939G>T (p.Leu313=) | |
| 1 | g.201317668G>A | CA344178363 | PKP1 | c.943G>A (p.Val315Met) n.285G>A c.940G>A (p.Val314Met) | |
| 1 | g.201317668G>C | CA344178359 | PKP1 | c.943G>C (p.Val315Leu) n.285G>C c.940G>C (p.Val314Leu) | |
| 1 | g.201317668G>T | CA344178361 | PKP1 | c.943G>T (p.Val315Leu) n.285G>T c.940G>T (p.Val314Leu) | |
| 1 | g.201317669T>A | CA344178369 | PKP1 | c.944T>A (p.Val315Glu) n.286T>A c.941T>A (p.Val314Glu) | |
| 1 | g.201317669T>C | CA344178371 | PKP1 | c.944T>C (p.Val315Ala) n.286T>C c.941T>C (p.Val314Ala) | |
| 1 | g.201317669T>G | CA344178373 | PKP1 | c.944T>G (p.Val315Gly) n.286T>G c.941T>G (p.Val314Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317669T= | CA1219691280 | PKP1 | c.944T= (p.Val315=) n.286T= c.941T= (p.Val314=) | |
| 1 | g.201317670G>A | CA1324253 | PKP1 | c.945G>A (p.Val315=) n.287G>A c.942G>A (p.Val314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.201317670G>C | CA422716447 | PKP1 | c.945G>C (p.Val315=) n.287G>C c.942G>C (p.Val314=) | |
| 1 | g.201317670G= | CA1143395617 | PKP1 | c.945G= (p.Val315=) n.287G= c.942G= (p.Val314=) | |
| 1 | g.201317670G>T | CA422716448 | PKP1 | c.945G>T (p.Val315=) n.287G>T c.942G>T (p.Val314=) | |
| 1 | g.201317671T>A | CA344178375 | PKP1 | c.946T>A (p.Phe316Ile) n.288T>A c.943T>A (p.Phe315Ile) | gnomAD v4 |
| 1 | g.201317671T>C | CA344178377 | PKP1 | c.946T>C (p.Phe316Leu) n.288T>C c.943T>C (p.Phe315Leu) | |
| 1 | g.201317671T>G | CA344178379 | PKP1 | c.946T>G (p.Phe316Val) n.288T>G c.943T>G (p.Phe315Val) | |
| 1 | g.201317672T>A | CA344178381 | PKP1 | c.947T>A (p.Phe316Tyr) n.289T>A c.944T>A (p.Phe315Tyr) | |
| 1 | g.201317672T>C | CA344178382 | PKP1 | c.947T>C (p.Phe316Ser) n.289T>C c.944T>C (p.Phe315Ser) | |
| 1 | g.201317672T>G | CA344178384 | PKP1 | c.947T>G (p.Phe316Cys) n.289T>G c.944T>G (p.Phe315Cys) | gnomAD v4 |
| 1 | g.201317673C>A | CA344178386 | PKP1 | c.948C>A (p.Phe316Leu) n.290C>A c.945C>A (p.Phe315Leu) | |
| 1 | g.201317673C>G | CA344178388 | PKP1 | c.948C>G (p.Phe316Leu) n.290C>G c.945C>G (p.Phe315Leu) | |
| 1 | g.201317673C>T | CA422716449 | PKP1 | c.948C>T (p.Phe316=) n.290C>T c.945C>T (p.Phe315=) | |
| 1 | g.201317674A= | CA1219691281 | PKP1 | c.949A= (p.Arg317=) n.291A= c.946A= (p.Arg316=) | |
| 1 | g.201317674A>C | CA422716450 | PKP1 | c.949A>C (p.Arg317=) n.291A>C c.946A>C (p.Arg316=) | |
| 1 | g.201317674A>G | CA36036656 | PKP1 | c.949A>G (p.Arg317Gly) n.291A>G c.946A>G (p.Arg316Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317674A>T | CA344178390 | PKP1 | c.949A>T (p.Arg317Trp) n.291A>T c.946A>T (p.Arg316Trp) | |
| 1 | g.201317675G>A | CA344178392 | PKP1 | c.950G>A (p.Arg317Lys) n.292G>A c.947G>A (p.Arg316Lys) | |
| 1 | g.201317675G>C | CA344178394 | PKP1 | c.950G>C (p.Arg317Thr) n.292G>C c.947G>C (p.Arg316Thr) | gnomAD v4 |
| 1 | g.201317675G>T | CA344178396 | PKP1 | c.950G>T (p.Arg317Met) n.292G>T c.947G>T (p.Arg316Met) | COSMIC |
| 1 | g.201317676G>A | CA422716451 | PKP1 | c.951G>A (p.Arg317=) n.293G>A c.948G>A (p.Arg316=) | |
| 1 | g.201317676G>C | CA344178397 | PKP1 | c.951G>C (p.Arg317Ser) n.293G>C c.948G>C (p.Arg316Ser) | |
| 1 | g.201317676G>T | CA344178399 | PKP1 | c.951G>T (p.Arg317Ser) n.293G>T c.948G>T (p.Arg316Ser) | |
| 1 | g.201317677A= | CA1219691282 | PKP1 | c.952A= (p.Ser318=) n.294A= c.949A= (p.Ser317=) | |
| 1 | g.201317677A>C | CA344178401 | PKP1 | c.952A>C (p.Ser318Arg) n.294A>C c.949A>C (p.Ser317Arg) | |
| 1 | g.201317677A>G | CA1324254 | PKP1 | c.952A>G (p.Ser318Gly) n.294A>G c.949A>G (p.Ser317Gly) | dbSNP ExAC gnomAD v2 |
| 1 | g.201317677A>T | CA344178405 | PKP1 | c.952A>T (p.Ser318Cys) n.294A>T c.949A>T (p.Ser317Cys) | |
| 1 | g.201317678G>A | CA344178407 | PKP1 | c.953G>A (p.Ser318Asn) n.295G>A c.950G>A (p.Ser317Asn) | dbSNP gnomAD v4 |
| 1 | g.201317678G>C | CA344178409 | PKP1 | c.953G>C (p.Ser318Thr) n.295G>C c.950G>C (p.Ser317Thr) | |
| 1 | g.201317678G= | CA1219691283 | PKP1 | c.953G= (p.Ser318=) n.295G= c.950G= (p.Ser317=) | |
| 1 | g.201317678G>T | CA344178411 | PKP1 | c.953G>T (p.Ser318Ile) n.295G>T c.950G>T (p.Ser317Ile) | COSMIC COSMIC |
| 1 | g.201317679C>A | CA344178413 | PKP1 | c.954C>A (p.Ser318Arg) n.296C>A c.951C>A (p.Ser317Arg) | |
| 1 | g.201317679C>G | CA344178415 | PKP1 | c.954C>G (p.Ser318Arg) n.296C>G c.951C>G (p.Ser317Arg) | |
| 1 | g.201317679C>T | CA422716452 | PKP1 | c.954C>T (p.Ser318=) n.296C>T c.951C>T (p.Ser317=) | gnomAD v4 |
| 1 | g.201317680A>C | CA344178420 | PKP1 | c.955A>C (p.Thr319Pro) n.297A>C c.952A>C (p.Thr318Pro) | |
| 1 | g.201317680A>G | CA344178417 | PKP1 | c.955A>G (p.Thr319Ala) n.297A>G c.952A>G (p.Thr318Ala) | |
| 1 | g.201317680A>T | CA344178418 | PKP1 | c.955A>T (p.Thr319Ser) n.297A>T c.952A>T (p.Thr318Ser) | |
| 1 | g.201317681C>A | CA1324255 | PKP1 | c.956C>A (p.Thr319Asn) n.298C>A c.953C>A (p.Thr318Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317681C= | CA1219691284 | PKP1 | c.956C= (p.Thr319=) n.298C= c.953C= (p.Thr318=) | |
| 1 | g.201317681C>G | CA344178423 | PKP1 | c.956C>G (p.Thr319Ser) n.298C>G c.953C>G (p.Thr318Ser) | |
| 1 | g.201317681C>T | CA344178422 | PKP1 | c.956C>T (p.Thr319Ile) n.298C>T c.953C>T (p.Thr318Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317682C>A | CA422716453 | PKP1 | c.957C>A (p.Thr319=) n.299C>A c.954C>A (p.Thr318=) | |
| 1 | g.201317682C= | CA1219691285 | PKP1 | c.957C= (p.Thr319=) n.299C= c.954C= (p.Thr318=) | |
| 1 | g.201317682C>G | CA422716454 | PKP1 | c.957C>G (p.Thr319=) n.299C>G c.954C>G (p.Thr318=) | |
| 1 | g.201317682C>T | CA1324256 | PKP1 | c.957C>T (p.Thr319=) n.299C>T c.954C>T (p.Thr318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317683A= | CA1219691286 | PKP1 | c.958A= (p.Thr320=) n.300A= c.955A= (p.Thr319=) | |
| 1 | g.201317683A>C | CA344178426 | PKP1 | c.958A>C (p.Thr320Pro) n.300A>C c.955A>C (p.Thr319Pro) | |
| 1 | g.201317683A>G | CA344178427 | PKP1 | c.958A>G (p.Thr320Ala) n.300A>G c.955A>G (p.Thr319Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317683A>T | CA344178428 | PKP1 | c.958A>T (p.Thr320Ser) n.300A>T c.955A>T (p.Thr319Ser) | |
| 1 | g.201317684C>A | CA344178431 | PKP1 | c.959C>A (p.Thr320Asn) n.301C>A c.956C>A (p.Thr319Asn) | COSMIC COSMIC |
| 1 | g.201317684C>G | CA344178433 | PKP1 | c.959C>G (p.Thr320Ser) n.301C>G c.956C>G (p.Thr319Ser) | |
| 1 | g.201317684C>T | CA344178434 | PKP1 | c.959C>T (p.Thr320Ile) n.301C>T c.956C>T (p.Thr319Ile) | |
| 1 | g.201317685C>A | CA422716455 | PKP1 | c.960C>A (p.Thr320=) n.302C>A c.957C>A (p.Thr319=) | |
| 1 | g.201317685C= | CA1219691287 | PKP1 | c.960C= (p.Thr320=) n.302C= c.957C= (p.Thr319=) | |
| 1 | g.201317685C>G | CA422716457 | PKP1 | c.960C>G (p.Thr320=) n.302C>G c.957C>G (p.Thr319=) | |
| 1 | g.201317685C>T | CA422716456 | PKP1 | c.960C>T (p.Thr320=) n.302C>T c.957C>T (p.Thr319=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317686A>C | CA344178437 | PKP1 | c.961A>C (p.Asn321His) n.303A>C c.958A>C (p.Asn320His) | |
| 1 | g.201317686A>G | CA344178439 | PKP1 | c.961A>G (p.Asn321Asp) n.303A>G c.958A>G (p.Asn320Asp) | gnomAD v4 |
| 1 | g.201317686A>T | CA344178440 | PKP1 | c.961A>T (p.Asn321Tyr) n.303A>T c.958A>T (p.Asn320Tyr) | |
| 1 | g.201317687A= | CA1219691288 | PKP1 | c.962A= (p.Asn321=) n.304A= c.959A= (p.Asn320=) | |
| 1 | g.201317687A>C | CA36036662 | PKP1 | c.962A>C (p.Asn321Thr) n.304A>C c.959A>C (p.Asn320Thr) | dbSNP gnomAD v4 |
| 1 | g.201317687A>G | CA344178443 | PKP1 | c.962A>G (p.Asn321Ser) n.304A>G c.959A>G (p.Asn320Ser) | dbSNP |
| 1 | g.201317687A>T | CA344178445 | PKP1 | c.962A>T (p.Asn321Ile) n.304A>T c.959A>T (p.Asn320Ile) | |
| 1 | g.201317688C>A | CA344178446 | PKP1 | c.963C>A (p.Asn321Lys) n.305C>A c.960C>A (p.Asn320Lys) | |
| 1 | g.201317688C>G | CA344178448 | PKP1 | c.963C>G (p.Asn321Lys) n.305C>G c.960C>G (p.Asn320Lys) | |
| 1 | g.201317688C>T | CA422716458 | PKP1 | c.963C>T (p.Asn321=) n.305C>T c.960C>T (p.Asn320=) | |
| 1 | g.201317689A= | CA1219691289 | PKP1 | c.964A= (p.Lys322=) n.306A= c.961A= (p.Lys321=) | |
| 1 | g.201317689A>C | CA344178450 | PKP1 | c.964A>C (p.Lys322Gln) n.306A>C c.961A>C (p.Lys321Gln) | |
| 1 | g.201317689A>G | CA1324257 | PKP1 | c.964A>G (p.Lys322Glu) n.306A>G c.961A>G (p.Lys321Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317689A>T | CA344178453 | PKP1 | c.964A>T (p.Lys322Ter) n.306A>T c.961A>T (p.Lys321Ter) | |
| 1 | g.201317690A= | CA1219691290 | PKP1 | c.965A= (p.Lys322=) n.307A= c.962A= (p.Lys321=) | |
| 1 | g.201317690A>C | CA344178455 | PKP1 | c.965A>C (p.Lys322Thr) n.307A>C c.962A>C (p.Lys321Thr) | |
| 1 | g.201317690A>G | CA344178457 | PKP1 | c.965A>G (p.Lys322Arg) n.307A>G c.962A>G (p.Lys321Arg) | dbSNP gnomAD v4 |
| 1 | g.201317690A>T | CA344178459 | PKP1 | c.965A>T (p.Lys322Met) n.307A>T c.962A>T (p.Lys321Met) | |
| 1 | g.201317691G>A | CA422716460 | PKP1 | c.966G>A (p.Lys322=) n.308G>A c.963G>A (p.Lys321=) | gnomAD v4 |
| 1 | g.201317691G>C | CA344178461 | PKP1 | c.966G>C (p.Lys322Asn) n.308G>C c.963G>C (p.Lys321Asn) | |
| 1 | g.201317691G>T | CA344178462 | PKP1 | c.966G>T (p.Lys322Asn) n.308G>T c.963G>T (p.Lys321Asn) | |
| 1 | g.201317692C>A | CA344178465 | PKP1 | c.967C>A (p.Leu323Met) n.309C>A c.964C>A (p.Leu322Met) | |
| 1 | g.201317692C= | CA1219691291 | PKP1 | c.967C= (p.Leu323=) n.309C= c.964C= (p.Leu322=) | |
| 1 | g.201317692C>G | CA344178467 | PKP1 | c.967C>G (p.Leu323Val) n.309C>G c.964C>G (p.Leu322Val) | |
| 1 | g.201317692C>T | CA422716461 | PKP1 | c.967C>T (p.Leu323=) n.309C>T c.964C>T (p.Leu322=) | dbSNP |
| 1 | g.201317693T>A | CA344178469 | PKP1 | c.968T>A (p.Leu323Gln) n.310T>A c.965T>A (p.Leu322Gln) | |
| 1 | g.201317693T>C | CA344178471 | PKP1 | c.968T>C (p.Leu323Pro) n.310T>C c.965T>C (p.Leu322Pro) | gnomAD v4 |
| 1 | g.201317693T>G | CA344178472 | PKP1 | c.968T>G (p.Leu323Arg) n.310T>G c.965T>G (p.Leu322Arg) | |
| 1 | g.201317694G>A | CA422716465 | PKP1 | c.969G>A (p.Leu323=) n.311G>A c.966G>A (p.Leu322=) | gnomAD v4 |
| 1 | g.201317694G>C | CA422716466 | PKP1 | c.969G>C (p.Leu323=) n.311G>C c.966G>C (p.Leu322=) | |
| 1 | g.201317694G>T | CA422716467 | PKP1 | c.969G>T (p.Leu323=) n.311G>T c.966G>T (p.Leu322=) | |
| 1 | g.201317695G>A | CA344178473 | PKP1 | c.970G>A (p.Glu324Lys) n.312G>A c.967G>A (p.Glu323Lys) | dbSNP gnomAD v4 |
| 1 | g.201317695G>C | CA344178476 | PKP1 | c.970G>C (p.Glu324Gln) n.312G>C c.967G>C (p.Glu323Gln) | |
| 1 | g.201317695G= | CA1219691292 | PKP1 | c.970G= (p.Glu324=) n.312G= c.967G= (p.Glu323=) | |
| 1 | g.201317695G>T | CA344178474 | PKP1 | c.970G>T (p.Glu324Ter) n.312G>T c.967G>T (p.Glu323Ter) | |
| 1 | g.201317696A>C | CA344178478 | PKP1 | c.971A>C (p.Glu324Ala) n.313A>C c.968A>C (p.Glu323Ala) | |
| 1 | g.201317696A>G | CA344178479 | PKP1 | c.971A>G (p.Glu324Gly) n.313A>G c.968A>G (p.Glu323Gly) | |
| 1 | g.201317696A>T | CA344178481 | PKP1 | c.971A>T (p.Glu324Val) n.313A>T c.968A>T (p.Glu323Val) | |
| 1 | g.201317697G>A | CA422716468 | PKP1 | c.972G>A (p.Glu324=) n.314G>A c.969G>A (p.Glu323=) | |
| 1 | g.201317697G>C | CA344178483 | PKP1 | c.972G>C (p.Glu324Asp) n.314G>C c.969G>C (p.Glu323Asp) | |
| 1 | g.201317697G= | CA1219691293 | PKP1 | c.972G= (p.Glu324=) n.314G= c.969G= (p.Glu323=) | |
| 1 | g.201317697G>T | CA344178484 | PKP1 | c.972G>T (p.Glu324Asp) n.314G>T c.969G>T (p.Glu323Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201317698A>C | CA344178487 | PKP1 | c.973A>C (p.Thr325Pro) n.315A>C c.970A>C (p.Thr324Pro) | |
| 1 | g.201317698A>G | CA344178488 | PKP1 | c.973A>G (p.Thr325Ala) n.315A>G c.970A>G (p.Thr324Ala) | |
| 1 | g.201317698A>T | CA344178490 | PKP1 | c.973A>T (p.Thr325Ser) n.315A>T c.970A>T (p.Thr324Ser) | |
| 1 | g.201317699C>A | CA344178492 | PKP1 | c.974C>A (p.Thr325Asn) n.316C>A c.971C>A (p.Thr324Asn) | |
| 1 | g.201317699C>G | CA344178493 | PKP1 | c.974C>G (p.Thr325Ser) n.316C>G c.971C>G (p.Thr324Ser) | |
| 1 | g.201317699C>T | CA344178495 | PKP1 | c.974C>T (p.Thr325Ile) n.316C>T c.971C>T (p.Thr324Ile) | gnomAD v4 |
| 1 | g.201317700C>A | CA422716469 | PKP1 | c.975C>A (p.Thr325=) n.317C>A c.972C>A (p.Thr324=) | |
| 1 | g.201317700C>G | CA422716471 | PKP1 | c.975C>G (p.Thr325=) n.317C>G c.972C>G (p.Thr324=) | |
| 1 | g.201317700C>T | CA422716470 | PKP1 | c.975C>T (p.Thr325=) n.317C>T c.972C>T (p.Thr324=) | |
| 1 | g.201317701C>A | CA422716472 | PKP1 | c.976C>A (p.Arg326=) n.318C>A c.973C>A (p.Arg325=) | |
| 1 | g.201317701C= | CA1219691294 | PKP1 | c.976C= (p.Arg326=) n.318C= c.973C= (p.Arg325=) | |
| 1 | g.201317701C>G | CA344178498 | PKP1 | c.976C>G (p.Arg326Gly) n.318C>G c.973C>G (p.Arg325Gly) | |
| 1 | g.201317701C>T | CA1324258 | PKP1 | c.976C>T (p.Arg326Trp) n.318C>T c.973C>T (p.Arg325Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317702G>A | CA1324259 | PKP1 | c.977G>A (p.Arg326Gln) n.319G>A c.974G>A (p.Arg325Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317702G>C | CA344178501 | PKP1 | c.977G>C (p.Arg326Pro) n.319G>C c.974G>C (p.Arg325Pro) | |
| 1 | g.201317702G= | CA1219691295 | PKP1 | c.977G= (p.Arg326=) n.319G= c.974G= (p.Arg325=) | |
| 1 | g.201317702G>T | CA344178503 | PKP1 | c.977G>T (p.Arg326Leu) n.319G>T c.974G>T (p.Arg325Leu) | |
| 1 | g.201317702_201317703delinsAT | CA36036666 | PKP1 | c.977_978delinsAT (p.Arg326His) n.319_320delinsAT c.974_975delinsAT (p.Arg325His) | dbSNP |
| 1 | g.201317702_201317703delinsGG | CA1219691296 | PKP1 | c.977_978delinsGG (p.Arg326=) n.319_320delinsGG c.974_975delinsGG (p.Arg325=) | |
| 1 | g.201317703G>A | CA422716475 | PKP1 | c.978G>A (p.Arg326=) n.320G>A c.975G>A (p.Arg325=) | |
| 1 | g.201317703G>C | CA422716473 | PKP1 | c.978G>C (p.Arg326=) n.320G>C c.975G>C (p.Arg325=) | |
| 1 | g.201317703G>T | CA422716474 | PKP1 | c.978G>T (p.Arg326=) n.320G>T c.975G>T (p.Arg325=) | |
| 1 | g.201317704A= | CA1219691297 | PKP1 | c.979A= (p.Arg327=) n.321A= c.976A= (p.Arg326=) | |
| 1 | g.201317704A>C | CA422716476 | PKP1 | c.979A>C (p.Arg327=) n.321A>C c.976A>C (p.Arg326=) | |
| 1 | g.201317704A>G | CA344178505 | PKP1 | c.979A>G (p.Arg327Gly) n.321A>G c.976A>G (p.Arg326Gly) | |
| 1 | g.201317704A>T | CA36036668 | PKP1 | c.979A>T (p.Arg327Trp) n.321A>T c.976A>T (p.Arg326Trp) | dbSNP |
| 1 | g.201317705G>A | CA344178508 | PKP1 | c.980G>A (p.Arg327Lys) n.322G>A c.977G>A (p.Arg326Lys) | |
| 1 | g.201317705G>C | CA344178510 | PKP1 | c.980G>C (p.Arg327Thr) n.322G>C c.977G>C (p.Arg326Thr) | |
| 1 | g.201317705G>T | CA344178512 | PKP1 | c.980G>T (p.Arg327Met) n.322G>T c.977G>T (p.Arg326Met) | |
| 1 | g.201317706G>A | CA1324260 | PKP1 | c.981G>A (p.Arg327=) n.323G>A c.978G>A (p.Arg326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317706G>C | CA344178514 | PKP1 | c.981G>C (p.Arg327Ser) n.323G>C c.978G>C (p.Arg326Ser) | |
| 1 | g.201317706G= | CA1141680535 | PKP1 | c.981G= (p.Arg327=) n.323G= c.978G= (p.Arg326=) | |
| 1 | g.201317706G>T | CA344178516 | PKP1 | c.981G>T (p.Arg327Ser) n.323G>T c.978G>T (p.Arg326Ser) | gnomAD v4 |
| 1 | g.201317707C>A | CA344178518 | PKP1 | c.982C>A (p.Gln328Lys) n.324C>A c.979C>A (p.Gln327Lys) | |
| 1 | g.201317707C>G | CA344178520 | PKP1 | c.982C>G (p.Gln328Glu) n.324C>G c.979C>G (p.Gln327Glu) | |
| 1 | g.201317707C>T | CA344178522 | PKP1 | c.982C>T (p.Gln328Ter) n.324C>T c.979C>T (p.Gln327Ter) | |
| 1 | g.201317708A>C | CA344178524 | PKP1 | c.983A>C (p.Gln328Pro) n.325A>C c.980A>C (p.Gln327Pro) | |
| 1 | g.201317708A>G | CA344178527 | PKP1 | c.983A>G (p.Gln328Arg) n.325A>G c.980A>G (p.Gln327Arg) | |
| 1 | g.201317708A>T | CA344178525 | PKP1 | c.983A>T (p.Gln328Leu) n.325A>T c.980A>T (p.Gln327Leu) | |
| 1 | g.201317709G>A | CA422716481 | PKP1 | c.984G>A (p.Gln328=) n.326G>A c.981G>A (p.Gln327=) | gnomAD v4 |
| 1 | g.201317709G>C | CA344178529 | PKP1 | c.984G>C (p.Gln328His) n.326G>C c.981G>C (p.Gln327His) | |
| 1 | g.201317709G>T | CA344178530 | PKP1 | c.984G>T (p.Gln328His) n.326G>T c.981G>T (p.Gln327His) | |
| 1 | g.201317710A>C | CA344178531 | PKP1 | c.985A>C (p.Asn329His) n.327A>C c.982A>C (p.Asn328His) | |
| 1 | g.201317710A>G | CA344178532 | PKP1 | c.985A>G (p.Asn329Asp) n.327A>G c.982A>G (p.Asn328Asp) | |
| 1 | g.201317710A>T | CA344178534 | PKP1 | c.985A>T (p.Asn329Tyr) n.327A>T c.982A>T (p.Asn328Tyr) | |
| 1 | g.201317711A>C | CA344178536 | PKP1 | c.986A>C (p.Asn329Thr) n.328A>C c.983A>C (p.Asn328Thr) | |
| 1 | g.201317711A>G | CA344178537 | PKP1 | c.986A>G (p.Asn329Ser) n.328A>G c.983A>G (p.Asn328Ser) | |
| 1 | g.201317711A>T | CA344178539 | PKP1 | c.986A>T (p.Asn329Ile) n.328A>T c.983A>T (p.Asn328Ile) | |
| 1 | g.201317712T>A | CA344178541 | PKP1 | c.987T>A (p.Asn329Lys) n.329T>A c.984T>A (p.Asn328Lys) | |
| 1 | g.201317712T>C | CA422716485 | PKP1 | c.987T>C (p.Asn329=) n.329T>C c.984T>C (p.Asn328=) | |
| 1 | g.201317712T>G | CA344178542 | PKP1 | c.987T>G (p.Asn329Lys) n.329T>G c.984T>G (p.Asn328Lys) | |
| 1 | g.201317713G>A | CA344178545 | PKP1 | c.988G>A (p.Gly330Arg) n.330G>A c.985G>A (p.Gly329Arg) | gnomAD v4 |
| 1 | g.201317713G>C | CA344178548 | PKP1 | c.988G>C (p.Gly330Arg) n.330G>C c.985G>C (p.Gly329Arg) | |
| 1 | g.201317713G>T | CA344178546 | PKP1 | c.988G>T (p.Gly330Trp) n.330G>T c.985G>T (p.Gly329Trp) | |
| 1 | g.201317714G>A | CA1324262 | PKP1 | c.989G>A (p.Gly330Glu) n.331G>A c.986G>A (p.Gly329Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317714G>C | CA1324261 | PKP1 | c.989G>C (p.Gly330Ala) n.331G>C c.986G>C (p.Gly329Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.201317714G= | CA1219691298 | PKP1 | c.989G= (p.Gly330=) n.331G= c.986G= (p.Gly329=) | |
| 1 | g.201317714G>T | CA344178551 | PKP1 | c.989G>T (p.Gly330Val) n.331G>T c.986G>T (p.Gly329Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317715G>A | CA1324263 | PKP1 | c.990G>A (p.Gly330=) n.332G>A c.987G>A (p.Gly329=) | dbSNP ExAC gnomAD v2 |
| 1 | g.201317715G>C | CA422716490 | PKP1 | c.990G>C (p.Gly330=) n.332G>C c.987G>C (p.Gly329=) | |
| 1 | g.201317715G= | CA1219691299 | PKP1 | c.990G= (p.Gly330=) n.332G= c.987G= (p.Gly329=) | |
| 1 | g.201317715G>T | CA422716491 | PKP1 | c.990G>T (p.Gly330=) n.332G>T c.987G>T (p.Gly329=) | |
| 1 | g.201317716A>C | CA344178553 | PKP1 | c.991A>C (p.Ile331Leu) n.333A>C c.988A>C (p.Ile330Leu) | |
| 1 | g.201317716A>G | CA344178557 | PKP1 | c.991A>G (p.Ile331Val) n.333A>G c.988A>G (p.Ile330Val) | gnomAD v4 |
| 1 | g.201317716A>T | CA344178555 | PKP1 | c.991A>T (p.Ile331Phe) n.333A>T c.988A>T (p.Ile330Phe) | |
| 1 | g.201317717T>A | CA344178560 | PKP1 | c.992T>A (p.Ile331Asn) n.334T>A c.989T>A (p.Ile330Asn) | gnomAD v4 |
| 1 | g.201317717T>C | CA344178562 | PKP1 | c.992T>C (p.Ile331Thr) n.334T>C c.989T>C (p.Ile330Thr) | |
| 1 | g.201317717T>G | CA344178563 | PKP1 | c.992T>G (p.Ile331Ser) n.334T>G c.989T>G (p.Ile330Ser) | |
| 1 | g.201317718C>A | CA422716493 | PKP1 | c.993C>A (p.Ile331=) n.335C>A c.990C>A (p.Ile330=) | dbSNP gnomAD v4 |
| 1 | g.201317718C= | CA1219691300 | PKP1 | c.993C= (p.Ile331=) n.335C= c.990C= (p.Ile330=) | |
| 1 | g.201317718C>G | CA344178566 | PKP1 | c.993C>G (p.Ile331Met) n.335C>G c.990C>G (p.Ile330Met) | |
| 1 | g.201317718C>T | CA422716494 | PKP1 | c.993C>T (p.Ile331=) n.335C>T c.990C>T (p.Ile330=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317719C>A | CA344178569 | PKP1 | c.994C>A (p.Arg332Ser) n.336C>A c.991C>A (p.Arg331Ser) | |
| 1 | g.201317719C= | CA1146939933 | PKP1 | c.994C= (p.Arg332=) n.336C= c.991C= (p.Arg331=) | |
| 1 | g.201317719C>G | CA344178571 | PKP1 | c.994C>G (p.Arg332Gly) n.336C>G c.991C>G (p.Arg331Gly) | |
| 1 | g.201317719C>T | CA1324264 | PKP1 | c.994C>T (p.Arg332Cys) n.336C>T c.991C>T (p.Arg331Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317720G>A | CA1324265 | PKP1 | c.995G>A (p.Arg332His) n.337G>A c.992G>A (p.Arg331His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.201317720G>C | CA1324266 | PKP1 | c.995G>C (p.Arg332Pro) n.337G>C c.992G>C (p.Arg331Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317720G= | CA1219691301 | PKP1 | c.995G= (p.Arg332=) n.337G= c.992G= (p.Arg331=) | |
| 1 | g.201317720G>T | CA344178577 | PKP1 | c.995G>T (p.Arg332Leu) n.337G>T c.992G>T (p.Arg331Leu) | dbSNP |
| 1 | g.201317721C>A | CA422716498 | PKP1 | c.996C>A (p.Arg332=) n.338C>A c.993C>A (p.Arg331=) | dbSNP gnomAD v4 |
| 1 | g.201317721C= | CA1142190758 | PKP1 | c.996C= (p.Arg332=) n.338C= c.993C= (p.Arg331=) | |
| 1 | g.201317721C>G | CA422716500 | PKP1 | c.996C>G (p.Arg332=) n.338C>G c.993C>G (p.Arg331=) | |
| 1 | g.201317721C>T | CA1324267 | PKP1 | c.996C>T (p.Arg332=) n.338C>T c.993C>T (p.Arg331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317722G>A | CA344178580 | PKP1 | c.997G>A (p.Glu333Lys) n.339G>A c.994G>A (p.Glu332Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317722G>C | CA344178582 | PKP1 | c.997G>C (p.Glu333Gln) n.339G>C c.994G>C (p.Glu332Gln) | |
| 1 | g.201317722G= | CA1219691302 | PKP1 | c.997G= (p.Glu333=) n.339G= c.994G= (p.Glu332=) | |
| 1 | g.201317722G>T | CA344178581 | PKP1 | c.997G>T (p.Glu333Ter) n.339G>T c.994G>T (p.Glu332Ter) | |
| 1 | g.201317723A>C | CA344178585 | PKP1 | c.998A>C (p.Glu333Ala) n.340A>C c.995A>C (p.Glu332Ala) | |
| 1 | g.201317723A>G | CA344178587 | PKP1 | c.998A>G (p.Glu333Gly) n.340A>G c.995A>G (p.Glu332Gly) | |
| 1 | g.201317723A>T | CA344178588 | PKP1 | c.998A>T (p.Glu333Val) n.340A>T c.995A>T (p.Glu332Val) | |
| 1 | g.201317724G>A | CA422716501 | PKP1 | c.999G>A (p.Glu333=) n.341G>A c.996G>A (p.Glu332=) | |
| 1 | g.201317724G>C | CA344178590 | PKP1 | c.999G>C (p.Glu333Asp) n.341G>C c.996G>C (p.Glu332Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317724G= | CA1219691303 | PKP1 | c.999G= (p.Glu333=) n.341G= c.996G= (p.Glu332=) | |
| 1 | g.201317724G>T | CA344178592 | PKP1 | c.999G>T (p.Glu333Asp) n.341G>T c.996G>T (p.Glu332Asp) | |
| 1 | g.201317725G>A | CA344178594 | PKP1 | c.1000G>A (p.Ala334Thr) n.342G>A c.997G>A (p.Ala333Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317725G>C | CA344178595 | PKP1 | c.1000G>C (p.Ala334Pro) n.342G>C c.997G>C (p.Ala333Pro) | |
| 1 | g.201317725G= | CA1219691304 | PKP1 | c.1000G= (p.Ala334=) n.342G= c.997G= (p.Ala333=) | |
| 1 | g.201317725G>T | CA344178598 | PKP1 | c.1000G>T (p.Ala334Ser) n.342G>T c.997G>T (p.Ala333Ser) | |
| 1 | g.201317726C>A | CA344178600 | PKP1 | c.1001C>A (p.Ala334Glu) n.343C>A c.998C>A (p.Ala333Glu) | |
| 1 | g.201317726C>G | CA344178601 | PKP1 | c.1001C>G (p.Ala334Gly) n.343C>G c.998C>G (p.Ala333Gly) | |
| 1 | g.201317726C>T | CA344178603 | PKP1 | c.1001C>T (p.Ala334Val) n.343C>T c.998C>T (p.Ala333Val) | |
| 1 | g.201317727A= | CA1219691305 | PKP1 | c.1002A= (p.Ala334=) n.344A= c.999A= (p.Ala333=) | |
| 1 | g.201317727A>C | CA422716507 | PKP1 | c.1002A>C (p.Ala334=) n.344A>C c.999A>C (p.Ala333=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.201317727A>G | CA422716505 | PKP1 | c.1002A>G (p.Ala334=) n.344A>G c.999A>G (p.Ala333=) | |
| 1 | g.201317727A>T | CA422716506 | PKP1 | c.1002A>T (p.Ala334=) n.344A>T c.999A>T (p.Ala333=) | |
| 1 | g.201317728G>A | CA344178609 | PKP1 | c.1003G>A (p.Val335Ile) n.345G>A c.1000G>A (p.Val334Ile) | gnomAD v4 |
| 1 | g.201317728G>C | CA344178607 | PKP1 | c.1003G>C (p.Val335Leu) n.345G>C c.1000G>C (p.Val334Leu) | |
| 1 | g.201317728G>T | CA344178606 | PKP1 | c.1003G>T (p.Val335Phe) n.345G>T c.1000G>T (p.Val334Phe) | |
| 1 | g.201317729T>A | CA344178612 | PKP1 | c.1004T>A (p.Val335Asp) n.346T>A c.1001T>A (p.Val334Asp) | |
| 1 | g.201317729T>C | CA344178613 | PKP1 | c.1004T>C (p.Val335Ala) n.346T>C c.1001T>C (p.Val334Ala) | |
| 1 | g.201317729T>G | CA344178615 | PKP1 | c.1004T>G (p.Val335Gly) n.346T>G c.1001T>G (p.Val334Gly) | |
| 1 | g.201317730C>A | CA422716512 | PKP1 | c.1005C>A (p.Val335=) n.347C>A c.1002C>A (p.Val334=) | |
| 1 | g.201317730C>G | CA422716513 | PKP1 | c.1005C>G (p.Val335=) n.347C>G c.1002C>G (p.Val334=) | |
| 1 | g.201317730C>T | CA422716514 | PKP1 | c.1005C>T (p.Val335=) n.347C>T c.1002C>T (p.Val334=) | gnomAD v4 |
| 1 | g.201317731A>C | CA344178618 | PKP1 | c.1006A>C (p.Ser336Arg) n.348A>C c.1003A>C (p.Ser335Arg) | |
| 1 | g.201317731A>G | CA344178619 | PKP1 | c.1006A>G (p.Ser336Gly) n.348A>G c.1003A>G (p.Ser335Gly) | gnomAD v4 |
| 1 | g.201317731A>T | CA344178620 | PKP1 | c.1006A>T (p.Ser336Cys) n.348A>T c.1003A>T (p.Ser335Cys) | |
| 1 | g.201317732G>A | CA344178621 | PKP1 | c.1007G>A (p.Ser336Asn) n.349G>A c.1004G>A (p.Ser335Asn) | gnomAD v4 |
| 1 | g.201317732G>C | CA344178624 | PKP1 | c.1007G>C (p.Ser336Thr) n.349G>C c.1004G>C (p.Ser335Thr) | |
| 1 | g.201317732G>T | CA344178626 | PKP1 | c.1007G>T (p.Ser336Ile) n.349G>T c.1004G>T (p.Ser335Ile) | |
| 1 | g.201317733C>A | CA344178628 | PKP1 | c.1008C>A (p.Ser336Arg) n.350C>A c.1005C>A (p.Ser335Arg) | |
| 1 | g.201317733C= | CA1142232587 | PKP1 | c.1008C= (p.Ser336=) n.350C= c.1005C= (p.Ser335=) | |
| 1 | g.201317733C>G | CA344178630 | PKP1 | c.1008C>G (p.Ser336Arg) n.350C>G c.1005C>G (p.Ser335Arg) | |
| 1 | g.201317733C>T | CA1324268 | PKP1 | c.1008C>T (p.Ser336=) n.350C>T c.1005C>T (p.Ser335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.201317734C>A | CA344178636 | PKP1 | c.1009C>A (p.Leu337Ile) n.351C>A c.1006C>A (p.Leu336Ile) | |
| 1 | g.201317734C= | CA1219691306 | PKP1 | c.1009C= (p.Leu337=) n.351C= c.1006C= (p.Leu336=) | |
| 1 | g.201317734C>G | CA344178634 | PKP1 | c.1009C>G (p.Leu337Val) n.351C>G c.1006C>G (p.Leu336Val) | |
| 1 | g.201317734C>T | CA344178632 | PKP1 | c.1009C>T (p.Leu337Phe) n.351C>T c.1006C>T (p.Leu336Phe) | dbSNP gnomAD v4 |
| 1 | g.201317735T>A | CA344178638 | PKP1 | c.1010T>A (p.Leu337His) n.352T>A c.1007T>A (p.Leu336His) | |
| 1 | g.201317735T>C | CA344178640 | PKP1 | c.1010T>C (p.Leu337Pro) n.352T>C c.1007T>C (p.Leu336Pro) | |
| 1 | g.201317735T>G | CA344178641 | PKP1 | c.1010T>G (p.Leu337Arg) n.352T>G c.1007T>G (p.Leu336Arg) | |
| 1 | g.201317736C>A | CA422716522 | PKP1 | c.1011C>A (p.Leu337=) n.353C>A c.1008C>A (p.Leu336=) | |
| 1 | g.201317736C>G | CA422716523 | PKP1 | c.1011C>G (p.Leu337=) n.353C>G c.1008C>G (p.Leu336=) | |
| 1 | g.201317736C>T | CA422716521 | PKP1 | c.1011C>T (p.Leu337=) n.353C>T c.1008C>T (p.Leu336=) | COSMIC COSMIC |
| 1 | g.201317737C>A | CA36036680 | PKP1 | c.1012C>A (p.Leu338Met) n.354C>A c.1009C>A (p.Leu337Met) | dbSNP |
| 1 | g.201317737C= | CA1140401344 | PKP1 | c.1012C= (p.Leu338=) n.354C= c.1009C= (p.Leu337=) | |
| 1 | g.201317737C>G | CA344178644 | PKP1 | c.1012C>G (p.Leu338Val) n.354C>G c.1009C>G (p.Leu337Val) | |
| 1 | g.201317737C>T | CA422716525 | PKP1 | c.1012C>T (p.Leu338=) n.354C>T c.1009C>T (p.Leu337=) | |
| 1 | g.201317738T>A | CA344178646 | PKP1 | c.1013T>A (p.Leu338Gln) n.355T>A c.1010T>A (p.Leu337Gln) | |
| 1 | g.201317738T>C | CA344178647 | PKP1 | c.1013T>C (p.Leu338Pro) n.355T>C c.1010T>C (p.Leu337Pro) | |
| 1 | g.201317738T>G | CA344178649 | PKP1 | c.1013T>G (p.Leu338Arg) n.355T>G c.1010T>G (p.Leu337Arg) | |
| 1 | g.201317739G>A | CA10609436 | PKP1 | c.1014G>A (p.Leu338=) n.356G>A c.1011G>A (p.Leu337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.201317739G>C | CA422716527 | PKP1 | c.1014G>C (p.Leu338=) n.356G>C c.1011G>C (p.Leu337=) | |
| 1 | g.201317739G= | CA1219691307 | PKP1 | c.1014G= (p.Leu338=) n.356G= c.1011G= (p.Leu337=) | |
| 1 | g.201317739G>T | CA422716528 | PKP1 | c.1014G>T (p.Leu338=) n.356G>T c.1011G>T (p.Leu337=) | |
| 1 | g.201317740A>C | CA422716529 | PKP1 | c.1015A>C (p.Arg339=) n.357A>C c.1012A>C (p.Arg338=) | |
| 1 | g.201317740A>G | CA344178652 | PKP1 | c.1015A>G (p.Arg339Gly) n.357A>G c.1012A>G (p.Arg338Gly) | |
| 1 | g.201317740A>T | CA344178654 | PKP1 | c.1015A>T (p.Arg339Trp) n.357A>T c.1012A>T (p.Arg338Trp) | |
| 1 | g.201317741G>A | CA344178656 | PKP1 | c.1016G>A (p.Arg339Lys) n.358G>A c.1013G>A (p.Arg338Lys) | |
| 1 | g.201317741G>C | CA344178658 | PKP1 | c.1016G>C (p.Arg339Thr) n.358G>C c.1013G>C (p.Arg338Thr) | |
| 1 | g.201317741G>T | CA344178660 | PKP1 | c.1016G>T (p.Arg339Met) n.358G>T c.1013G>T (p.Arg338Met) | |
| 1 | g.201317742G>A | CA422716533 | PKP1 | c.1017G>A (p.Arg339=) n.359G>A c.1014G>A (p.Arg338=) | gnomAD v4 |
| 1 | g.201317742G>C | CA344178664 | PKP1 | c.1017G>C (p.Arg339Ser) n.359G>C c.1014G>C (p.Arg338Ser) | |
| 1 | g.201317742G>T | CA344178662 | PKP1 | c.1017G>T (p.Arg339Ser) n.359G>T c.1014G>T (p.Arg338Ser) |