Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.161973261_161973303delCA571718880PRKNc.612+19_612+61del
c.493+19_493+61del
c.734+19_734+61del
c.729+19_729+61del
n.771_813del
n.370+19_370+61del
n.841+19_841+61del
c.161+19_161+61del
c.287+19_287+61del
c.650+19_650+61del
c.497+19_497+61del
c.731+19_731+61del
c.848+19_848+61del
c.494+19_494+61del
n.840+19_840+61del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973267_161973309dupCA2773835132PRKNc.610_612+40dup
c.491_493+40dup
c.732_734+40dup
c.727_729+40dup
n.750_792dup
n.368_370+40dup
n.839_841+40dup
c.159_161+40dup
c.285_287+40dup
c.648_650+40dup
c.495_497+40dup
c.729_731+40dup
c.846_848+40dup
c.492_494+40dup
n.838_840+40dup
6g.161973303T>ACA366466788PRKNc.611A>T (n.611A>T)
c.492A>T (n.492A>T)
c.733A>T (p.Arg245Trp)
c.728A>T
n.751A>T
n.369A>T
n.840A>T
c.160A>T (p.Arg54Trp)
c.286A>T (p.Arg96Trp)
c.649A>T (p.Arg217Trp)
c.496A>T (p.Arg166Trp)
c.730A>T (p.Arg244Trp)
c.733A>T (p.Arg245Ter)
c.847A>T (p.Arg283Trp)
c.493A>T (p.Arg165Trp)
n.839A>T
6g.161973303T>CCA366466789PRKNc.611A>G (n.611A>G)
c.492A>G (n.492A>G)
c.733A>G (p.Arg245Gly)
c.728A>G
n.751A>G
n.369A>G
n.840A>G
c.160A>G (p.Arg54Gly)
c.286A>G (p.Arg96Gly)
c.649A>G (p.Arg217Gly)
c.496A>G (p.Arg166Gly)
c.730A>G (p.Arg244Gly)
c.847A>G (p.Arg283Gly)
c.493A>G (p.Arg165Gly)
n.839A>G
6g.161973303T>GCA453047728PRKNc.611A>C (n.611A>C)
c.492A>C (n.492A>C)
c.733A>C (p.Arg245=)
c.728A>C
n.751A>C
n.369A>C
n.840A>C
c.160A>C (p.Arg54=)
c.286A>C (p.Arg96=)
c.649A>C (p.Arg217=)
c.496A>C (p.Arg166=)
c.730A>C (p.Arg244=)
c.847A>C (p.Arg283=)
c.493A>C (p.Arg165=)
n.839A>C
6g.161973304G>ACA4090260PRKNc.610C>T (n.610C>T)
c.491C>T (n.491C>T)
c.732C>T (p.Val244=)
c.727C>T
n.750C>T
n.368C>T
n.839C>T
c.159C>T (p.Val53=)
c.285C>T (p.Val95=)
c.648C>T (p.Val216=)
c.495C>T (p.Val165=)
c.729C>T (p.Val243=)
c.846C>T (p.Val282=)
c.492C>T (p.Val164=)
n.838C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973304G>CCA453047730PRKNc.610C>G (n.610C>G)
c.491C>G (n.491C>G)
c.732C>G (p.Val244=)
c.727C>G
n.750C>G
n.368C>G
n.839C>G
c.159C>G (p.Val53=)
c.285C>G (p.Val95=)
c.648C>G (p.Val216=)
c.495C>G (p.Val165=)
c.729C>G (p.Val243=)
c.846C>G (p.Val282=)
c.492C>G (p.Val164=)
n.838C>G
 dbSNP
6g.161973304G=CA1677783327PRKNc.610C= (n.610C=)
c.491C= (n.491C=)
c.732C= (p.Val244=)
c.727C=
n.750C=
n.368C=
n.839C=
c.159C= (p.Val53=)
c.285C= (p.Val95=)
c.648C= (p.Val216=)
c.495C= (p.Val165=)
c.729C= (p.Val243=)
c.846C= (p.Val282=)
c.492C= (p.Val164=)
n.838C=
6g.161973304G>TCA453047729PRKNc.610C>A (n.610C>A)
c.491C>A (n.491C>A)
c.732C>A (p.Val244=)
c.727C>A
n.750C>A
n.368C>A
n.839C>A
c.159C>A (p.Val53=)
c.285C>A (p.Val95=)
c.648C>A (p.Val216=)
c.495C>A (p.Val165=)
c.729C>A (p.Val243=)
c.846C>A (p.Val282=)
c.492C>A (p.Val164=)
n.838C>A
 gnomAD v4
6g.161973305A=CA1677783328PRKNc.609T= (n.609T=)
c.490T= (n.490T=)
c.731T= (p.Val244=)
c.726T=
n.749T=
n.367T=
n.838T=
c.158T= (p.Val53=)
c.284T= (p.Val95=)
c.647T= (p.Val216=)
c.494T= (p.Val165=)
c.728T= (p.Val243=)
c.845T= (p.Val282=)
c.491T= (p.Val164=)
n.837T=
6g.161973305A>CCA366466790PRKNc.609T>G (n.609T>G)
c.490T>G (n.490T>G)
c.731T>G (p.Val244Gly)
c.726T>G
n.749T>G
n.367T>G
n.838T>G
c.158T>G (p.Val53Gly)
c.284T>G (p.Val95Gly)
c.647T>G (p.Val216Gly)
c.494T>G (p.Val165Gly)
c.728T>G (p.Val243Gly)
c.845T>G (p.Val282Gly)
c.491T>G (p.Val164Gly)
n.837T>G
6g.161973305A>GCA366466791PRKNc.609T>C (n.609T>C)
c.490T>C (n.490T>C)
c.731T>C (p.Val244Ala)
c.726T>C
n.749T>C
n.367T>C
n.838T>C
c.158T>C (p.Val53Ala)
c.284T>C (p.Val95Ala)
c.647T>C (p.Val216Ala)
c.494T>C (p.Val165Ala)
c.728T>C (p.Val243Ala)
c.845T>C (p.Val282Ala)
c.491T>C (p.Val164Ala)
n.837T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973305A>TCA366466792PRKNc.609T>A (n.609T>A)
c.490T>A (n.490T>A)
c.731T>A (p.Val244Asp)
c.726T>A
n.749T>A
n.367T>A
n.838T>A
c.158T>A (p.Val53Asp)
c.284T>A (p.Val95Asp)
c.647T>A (p.Val216Asp)
c.494T>A (p.Val165Asp)
c.728T>A (p.Val243Asp)
c.845T>A (p.Val282Asp)
c.491T>A (p.Val164Asp)
n.837T>A
6g.161973306C>ACA366466794PRKNc.608G>T (n.608G>T)
c.489G>T (n.489G>T)
c.730G>T (p.Val244Phe)
c.725G>T
n.748G>T
n.366G>T
n.837G>T
c.157G>T (p.Val53Phe)
c.283G>T (p.Val95Phe)
c.646G>T (p.Val216Phe)
c.493G>T (p.Val165Phe)
c.727G>T (p.Val243Phe)
c.844G>T (p.Val282Phe)
c.490G>T (p.Val164Phe)
n.836G>T
6g.161973306C=CA1677783329PRKNc.608G= (n.608G=)
c.489G= (n.489G=)
c.730G= (p.Val244=)
c.725G=
n.748G=
n.366G=
n.837G=
c.157G= (p.Val53=)
c.283G= (p.Val95=)
c.646G= (p.Val216=)
c.493G= (p.Val165=)
c.727G= (p.Val243=)
c.844G= (p.Val282=)
c.490G= (p.Val164=)
n.836G=
6g.161973306C>GCA366466793PRKNc.608G>C (n.608G>C)
c.489G>C (n.489G>C)
c.730G>C (p.Val244Leu)
c.725G>C
n.748G>C
n.366G>C
n.837G>C
c.157G>C (p.Val53Leu)
c.283G>C (p.Val95Leu)
c.646G>C (p.Val216Leu)
c.493G>C (p.Val165Leu)
c.727G>C (p.Val243Leu)
c.844G>C (p.Val282Leu)
c.490G>C (p.Val164Leu)
n.836G>C
 gnomAD v4
6g.161973306C>TCA4090261PRKNc.608G>A (n.608G>A)
c.489G>A (n.489G>A)
c.730G>A (p.Val244Ile)
c.725G>A
n.748G>A
n.366G>A
n.837G>A
c.157G>A (p.Val53Ile)
c.283G>A (p.Val95Ile)
c.646G>A (p.Val216Ile)
c.493G>A (p.Val165Ile)
c.727G>A (p.Val243Ile)
c.844G>A (p.Val282Ile)
c.490G>A (p.Val164Ile)
n.836G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973307G>ACA453047731PRKNc.607C>T (n.607C>T)
c.488C>T (n.488C>T)
c.729C>T (p.Asp243=)
c.724C>T
n.747C>T
n.365C>T
n.836C>T
c.156C>T (p.Asp52=)
c.282C>T (p.Asp94=)
c.645C>T (p.Asp215=)
c.492C>T (p.Asp164=)
c.726C>T (p.Asp242=)
c.843C>T (p.Asp281=)
c.489C>T (p.Asp163=)
n.835C>T
 gnomAD v4 COSMIC COSMIC
6g.161973307G>CCA366466795PRKNc.607C>G (n.607C>G)
c.488C>G (n.488C>G)
c.729C>G (p.Asp243Glu)
c.724C>G
n.747C>G
n.365C>G
n.836C>G
c.156C>G (p.Asp52Glu)
c.282C>G (p.Asp94Glu)
c.645C>G (p.Asp215Glu)
c.492C>G (p.Asp164Glu)
c.726C>G (p.Asp242Glu)
c.843C>G (p.Asp281Glu)
c.489C>G (p.Asp163Glu)
n.835C>G
 gnomAD v4
6g.161973307G>TCA366466796PRKNc.607C>A (n.607C>A)
c.488C>A (n.488C>A)
c.729C>A (p.Asp243Glu)
c.724C>A
n.747C>A
n.365C>A
n.836C>A
c.156C>A (p.Asp52Glu)
c.282C>A (p.Asp94Glu)
c.645C>A (p.Asp215Glu)
c.492C>A (p.Asp164Glu)
c.726C>A (p.Asp242Glu)
c.843C>A (p.Asp281Glu)
c.489C>A (p.Asp163Glu)
n.835C>A
6g.161973308T>ACA366466797PRKNc.606A>T (n.606A>T)
c.487A>T (n.487A>T)
c.728A>T (p.Asp243Val)
c.723A>T
n.746A>T
n.364A>T
n.835A>T
c.155A>T (p.Asp52Val)
c.281A>T (p.Asp94Val)
c.644A>T (p.Asp215Val)
c.491A>T (p.Asp164Val)
c.725A>T (p.Asp242Val)
c.842A>T (p.Asp281Val)
c.488A>T (p.Asp163Val)
n.834A>T
 gnomAD v4
6g.161973308T>CCA366466798PRKNc.606A>G (n.606A>G)
c.487A>G (n.487A>G)
c.728A>G (p.Asp243Gly)
c.723A>G
n.746A>G
n.364A>G
n.835A>G
c.155A>G (p.Asp52Gly)
c.281A>G (p.Asp94Gly)
c.644A>G (p.Asp215Gly)
c.491A>G (p.Asp164Gly)
c.725A>G (p.Asp242Gly)
c.842A>G (p.Asp281Gly)
c.488A>G (p.Asp163Gly)
n.834A>G
6g.161973308T>GCA366466799PRKNc.606A>C (n.606A>C)
c.487A>C (n.487A>C)
c.728A>C (p.Asp243Ala)
c.723A>C
n.746A>C
n.364A>C
n.835A>C
c.155A>C (p.Asp52Ala)
c.281A>C (p.Asp94Ala)
c.644A>C (p.Asp215Ala)
c.491A>C (p.Asp164Ala)
c.725A>C (p.Asp242Ala)
c.842A>C (p.Asp281Ala)
c.488A>C (p.Asp163Ala)
n.834A>C
 gnomAD v4
6g.161973309C>ACA366466800PRKNc.605G>T (n.605G>T)
c.486G>T (n.486G>T)
c.727G>T (p.Asp243Tyr)
c.722G>T
n.745G>T
n.363G>T
n.834G>T
c.154G>T (p.Asp52Tyr)
c.280G>T (p.Asp94Tyr)
c.643G>T (p.Asp215Tyr)
c.490G>T (p.Asp164Tyr)
c.724G>T (p.Asp242Tyr)
c.841G>T (p.Asp281Tyr)
c.487G>T (p.Asp163Tyr)
n.833G>T
6g.161973309C=CA1677783330PRKNc.605G= (n.605G=)
c.486G= (n.486G=)
c.727G= (p.Asp243=)
c.722G=
n.745G=
n.363G=
n.834G=
c.154G= (p.Asp52=)
c.280G= (p.Asp94=)
c.643G= (p.Asp215=)
c.490G= (p.Asp164=)
c.724G= (p.Asp242=)
c.841G= (p.Asp281=)
c.487G= (p.Asp163=)
n.833G=
6g.161973309C>GCA366466801PRKNc.605G>C (n.605G>C)
c.486G>C (n.486G>C)
c.727G>C (p.Asp243His)
c.722G>C
n.745G>C
n.363G>C
n.834G>C
c.154G>C (p.Asp52His)
c.280G>C (p.Asp94His)
c.643G>C (p.Asp215His)
c.490G>C (p.Asp164His)
c.724G>C (p.Asp242His)
c.841G>C (p.Asp281His)
c.487G>C (p.Asp163His)
n.833G>C
6g.161973309C>TCA4090262PRKNc.605G>A (n.605G>A)
c.486G>A (n.486G>A)
c.727G>A (p.Asp243Asn)
c.722G>A
n.745G>A
n.363G>A
n.834G>A
c.154G>A (p.Asp52Asn)
c.280G>A (p.Asp94Asn)
c.643G>A (p.Asp215Asn)
c.490G>A (p.Asp164Asn)
c.724G>A (p.Asp242Asn)
c.841G>A (p.Asp281Asn)
c.487G>A (p.Asp163Asn)
n.833G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973310T>ACA453047732PRKNc.604A>T (n.604A>T)
c.485A>T (n.485A>T)
c.726A>T (p.Thr242=)
c.721A>T
n.744A>T
n.362A>T
n.833A>T
c.153A>T (p.Thr51=)
c.279A>T (p.Thr93=)
c.642A>T (p.Thr214=)
c.489A>T (p.Thr163=)
c.723A>T (p.Thr241=)
c.840A>T (p.Thr280=)
c.486A>T (p.Thr162=)
n.832A>T
6g.161973310T>CCA453047733PRKNc.604A>G (n.604A>G)
c.485A>G (n.485A>G)
c.726A>G (p.Thr242=)
c.721A>G
n.744A>G
n.362A>G
n.833A>G
c.153A>G (p.Thr51=)
c.279A>G (p.Thr93=)
c.642A>G (p.Thr214=)
c.489A>G (p.Thr163=)
c.723A>G (p.Thr241=)
c.840A>G (p.Thr280=)
c.486A>G (p.Thr162=)
n.832A>G
6g.161973310T>GCA453047734PRKNc.604A>C (n.604A>C)
c.485A>C (n.485A>C)
c.726A>C (p.Thr242=)
c.721A>C
n.744A>C
n.362A>C
n.833A>C
c.153A>C (p.Thr51=)
c.279A>C (p.Thr93=)
c.642A>C (p.Thr214=)
c.489A>C (p.Thr163=)
c.723A>C (p.Thr241=)
c.840A>C (p.Thr280=)
c.486A>C (p.Thr162=)
n.832A>C
6g.161973311G>ACA4090263PRKNc.603C>T (n.603C>T)
c.484C>T (n.484C>T)
c.725C>T (p.Thr242Ile)
c.720C>T
n.743C>T
n.361C>T
n.832C>T
c.152C>T (p.Thr51Ile)
c.278C>T (p.Thr93Ile)
c.641C>T (p.Thr214Ile)
c.488C>T (p.Thr163Ile)
c.722C>T (p.Thr241Ile)
c.839C>T (p.Thr280Ile)
c.485C>T (p.Thr162Ile)
n.831C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973311G>CCA366466802PRKNc.603C>G (n.603C>G)
c.484C>G (n.484C>G)
c.725C>G (p.Thr242Arg)
c.720C>G
n.743C>G
n.361C>G
n.832C>G
c.152C>G (p.Thr51Arg)
c.278C>G (p.Thr93Arg)
c.641C>G (p.Thr214Arg)
c.488C>G (p.Thr163Arg)
c.722C>G (p.Thr241Arg)
c.839C>G (p.Thr280Arg)
c.485C>G (p.Thr162Arg)
n.831C>G
6g.161973311G=CA1677783331PRKNc.603C= (n.603C=)
c.484C= (n.484C=)
c.725C= (p.Thr242=)
c.720C=
n.743C=
n.361C=
n.832C=
c.152C= (p.Thr51=)
c.278C= (p.Thr93=)
c.641C= (p.Thr214=)
c.488C= (p.Thr163=)
c.722C= (p.Thr241=)
c.839C= (p.Thr280=)
c.485C= (p.Thr162=)
n.831C=
6g.161973311G>TCA366466803PRKNc.603C>A (n.603C>A)
c.484C>A (n.484C>A)
c.725C>A (p.Thr242Lys)
c.720C>A
n.743C>A
n.361C>A
n.832C>A
c.152C>A (p.Thr51Lys)
c.278C>A (p.Thr93Lys)
c.641C>A (p.Thr214Lys)
c.488C>A (p.Thr163Lys)
c.722C>A (p.Thr241Lys)
c.839C>A (p.Thr280Lys)
c.485C>A (p.Thr162Lys)
n.831C>A
6g.161973312T>ACA366466804PRKNc.602A>T (n.602A>T)
c.483A>T (n.483A>T)
c.724A>T (p.Thr242Ser)
c.719A>T
n.742A>T
n.360A>T
n.831A>T
c.151A>T (p.Thr51Ser)
c.277A>T (p.Thr93Ser)
c.640A>T (p.Thr214Ser)
c.487A>T (p.Thr163Ser)
c.721A>T (p.Thr241Ser)
c.838A>T (p.Thr280Ser)
c.484A>T (p.Thr162Ser)
n.830A>T
6g.161973312T>CCA366466805PRKNc.602A>G (n.602A>G)
c.483A>G (n.483A>G)
c.724A>G (p.Thr242Ala)
c.719A>G
n.742A>G
n.360A>G
n.831A>G
c.151A>G (p.Thr51Ala)
c.277A>G (p.Thr93Ala)
c.640A>G (p.Thr214Ala)
c.487A>G (p.Thr163Ala)
c.721A>G (p.Thr241Ala)
c.838A>G (p.Thr280Ala)
c.484A>G (p.Thr162Ala)
n.830A>G
6g.161973312T>GCA366466806PRKNc.602A>C (n.602A>C)
c.483A>C (n.483A>C)
c.724A>C (p.Thr242Pro)
c.719A>C
n.742A>C
n.360A>C
n.831A>C
c.151A>C (p.Thr51Pro)
c.277A>C (p.Thr93Pro)
c.640A>C (p.Thr214Pro)
c.487A>C (p.Thr163Pro)
c.721A>C (p.Thr241Pro)
c.838A>C (p.Thr280Pro)
c.484A>C (p.Thr162Pro)
n.830A>C
6g.161973313G>ACA453047735PRKNc.601C>T (n.601C>T)
c.482C>T (n.482C>T)
c.723C>T (p.Cys241=)
c.718C>T
n.741C>T
n.359C>T
n.830C>T
c.150C>T (p.Cys50=)
c.276C>T (p.Cys92=)
c.639C>T (p.Cys213=)
c.486C>T (p.Cys162=)
c.720C>T (p.Cys240=)
c.837C>T (p.Cys279=)
c.483C>T (p.Cys161=)
n.829C>T
6g.161973313G>CCA366466807PRKNc.601C>G (n.601C>G)
c.482C>G (n.482C>G)
c.723C>G (p.Cys241Trp)
c.718C>G
n.741C>G
n.359C>G
n.830C>G
c.150C>G (p.Cys50Trp)
c.276C>G (p.Cys92Trp)
c.639C>G (p.Cys213Trp)
c.486C>G (p.Cys162Trp)
c.720C>G (p.Cys240Trp)
c.837C>G (p.Cys279Trp)
c.483C>G (p.Cys161Trp)
n.829C>G
6g.161973313G>TCA366466808PRKNc.601C>A (n.601C>A)
c.482C>A (n.482C>A)
c.723C>A (p.Cys241Ter)
c.718C>A
n.741C>A
n.359C>A
n.830C>A
c.150C>A (p.Cys50Ter)
c.276C>A (p.Cys92Ter)
c.639C>A (p.Cys213Ter)
c.486C>A (p.Cys162Ter)
c.720C>A (p.Cys240Ter)
c.837C>A (p.Cys279Ter)
c.483C>A (p.Cys161Ter)
n.829C>A
6g.161973314C>ACA366466809PRKNc.600G>T (n.600G>T)
c.481G>T (n.481G>T)
c.722G>T (p.Cys241Phe)
c.717G>T
n.740G>T
n.358G>T
n.829G>T
c.149G>T (p.Cys50Phe)
c.275G>T (p.Cys92Phe)
c.638G>T (p.Cys213Phe)
c.485G>T (p.Cys162Phe)
c.719G>T (p.Cys240Phe)
c.836G>T (p.Cys279Phe)
c.482G>T (p.Cys161Phe)
n.828G>T
 dbSNP
6g.161973314C>GCA366466810PRKNc.600G>C (n.600G>C)
c.481G>C (n.481G>C)
c.722G>C (p.Cys241Ser)
c.717G>C
n.740G>C
n.358G>C
n.829G>C
c.149G>C (p.Cys50Ser)
c.275G>C (p.Cys92Ser)
c.638G>C (p.Cys213Ser)
c.485G>C (p.Cys162Ser)
c.719G>C (p.Cys240Ser)
c.836G>C (p.Cys279Ser)
c.482G>C (p.Cys161Ser)
n.828G>C
6g.161973314C>TCA366466811PRKNc.600G>A (n.600G>A)
c.481G>A (n.481G>A)
c.722G>A (p.Cys241Tyr)
c.717G>A
n.740G>A
n.358G>A
n.829G>A
c.149G>A (p.Cys50Tyr)
c.275G>A (p.Cys92Tyr)
c.638G>A (p.Cys213Tyr)
c.485G>A (p.Cys162Tyr)
c.719G>A (p.Cys240Tyr)
c.836G>A (p.Cys279Tyr)
c.482G>A (p.Cys161Tyr)
n.828G>A
 gnomAD v4
6g.161973315A=CA1677783332PRKNc.599T= (n.599T=)
c.480T= (n.480T=)
c.721T= (p.Cys241=)
c.716T=
n.739T=
n.357T=
n.828T=
c.148T= (p.Cys50=)
c.274T= (p.Cys92=)
c.637T= (p.Cys213=)
c.484T= (p.Cys162=)
c.718T= (p.Cys240=)
c.835T= (p.Cys279=)
c.481T= (p.Cys161=)
n.827T=
6g.161973315A>CCA366466814PRKNc.599T>G (n.599T>G)
c.480T>G (n.480T>G)
c.721T>G (p.Cys241Gly)
c.716T>G
n.739T>G
n.357T>G
n.828T>G
c.148T>G (p.Cys50Gly)
c.274T>G (p.Cys92Gly)
c.637T>G (p.Cys213Gly)
c.484T>G (p.Cys162Gly)
c.718T>G (p.Cys240Gly)
c.835T>G (p.Cys279Gly)
c.481T>G (p.Cys161Gly)
n.827T>G
6g.161973315A>GCA366466813PRKNc.599T>C (n.599T>C)
c.480T>C (n.480T>C)
c.721T>C (p.Cys241Arg)
c.716T>C
n.739T>C
n.357T>C
n.828T>C
c.148T>C (p.Cys50Arg)
c.274T>C (p.Cys92Arg)
c.637T>C (p.Cys213Arg)
c.484T>C (p.Cys162Arg)
c.718T>C (p.Cys240Arg)
c.835T>C (p.Cys279Arg)
c.481T>C (p.Cys161Arg)
n.827T>C
 gnomAD v4
6g.161973315A>TCA366466812PRKNc.599T>A (n.599T>A)
c.480T>A (n.480T>A)
c.721T>A (p.Cys241Ser)
c.716T>A
n.739T>A
n.357T>A
n.828T>A
c.148T>A (p.Cys50Ser)
c.274T>A (p.Cys92Ser)
c.637T>A (p.Cys213Ser)
c.484T>A (p.Cys162Ser)
c.718T>A (p.Cys240Ser)
c.835T>A (p.Cys279Ser)
c.481T>A (p.Cys161Ser)
n.827T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973316C>ACA453047736PRKNc.598G>T (n.598G>T)
c.479G>T (n.479G>T)
c.720G>T (p.Thr240=)
c.715G>T
n.738G>T
n.356G>T
n.827G>T
c.147G>T (p.Thr49=)
c.273G>T (p.Thr91=)
c.636G>T (p.Thr212=)
c.483G>T (p.Thr161=)
c.717G>T (p.Thr239=)
c.834G>T (p.Thr278=)
c.480G>T (p.Thr160=)
n.826G>T
6g.161973316C=CA1677783333PRKNc.598G= (n.598G=)
c.479G= (n.479G=)
c.720G= (p.Thr240=)
c.715G=
n.738G=
n.356G=
n.827G=
c.147G= (p.Thr49=)
c.273G= (p.Thr91=)
c.636G= (p.Thr212=)
c.483G= (p.Thr161=)
c.717G= (p.Thr239=)
c.834G= (p.Thr278=)
c.480G= (p.Thr160=)
n.826G=
6g.161973316C>GCA453047737PRKNc.598G>C (n.598G>C)
c.479G>C (n.479G>C)
c.720G>C (p.Thr240=)
c.715G>C
n.738G>C
n.356G>C
n.827G>C
c.147G>C (p.Thr49=)
c.273G>C (p.Thr91=)
c.636G>C (p.Thr212=)
c.483G>C (p.Thr161=)
c.717G>C (p.Thr239=)
c.834G>C (p.Thr278=)
c.480G>C (p.Thr160=)
n.826G>C
 dbSNP gnomAD v2 gnomAD v4
6g.161973316C>TCA4090264PRKNc.598G>A (n.598G>A)
c.479G>A (n.479G>A)
c.720G>A (p.Thr240=)
c.715G>A
n.738G>A
n.356G>A
n.827G>A
c.147G>A (p.Thr49=)
c.273G>A (p.Thr91=)
c.636G>A (p.Thr212=)
c.483G>A (p.Thr161=)
c.717G>A (p.Thr239=)
c.834G>A (p.Thr278=)
c.480G>A (p.Thr160=)
n.826G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973317G>ACA254089PRKNc.597C>T (n.597C>T)
c.478C>T (n.478C>T)
c.719C>T (p.Thr240Met)
c.714C>T
n.737C>T
n.355C>T
n.826C>T
c.146C>T (p.Thr49Met)
c.272C>T (p.Thr91Met)
c.635C>T (p.Thr212Met)
c.482C>T (p.Thr161Met)
c.716C>T (p.Thr239Met)
c.833C>T (p.Thr278Met)
c.479C>T (p.Thr160Met)
n.825C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.161973317G>CCA254077PRKNc.597C>G (n.597C>G)
c.478C>G (n.478C>G)
c.719C>G (p.Thr240Arg)
c.714C>G
n.737C>G
n.355C>G
n.826C>G
c.146C>G (p.Thr49Arg)
c.272C>G (p.Thr91Arg)
c.635C>G (p.Thr212Arg)
c.482C>G (p.Thr161Arg)
c.716C>G (p.Thr239Arg)
c.833C>G (p.Thr278Arg)
c.479C>G (p.Thr160Arg)
n.825C>G
 ClinVar dbSNP gnomAD v4
6g.161973317G=CA1677783334PRKNc.597C= (n.597C=)
c.478C= (n.478C=)
c.719C= (p.Thr240=)
c.714C=
n.737C=
n.355C=
n.826C=
c.146C= (p.Thr49=)
c.272C= (p.Thr91=)
c.635C= (p.Thr212=)
c.482C= (p.Thr161=)
c.716C= (p.Thr239=)
c.833C= (p.Thr278=)
c.479C= (p.Thr160=)
n.825C=
6g.161973317G>TCA4090265PRKNc.597C>A (n.597C>A)
c.478C>A (n.478C>A)
c.719C>A (p.Thr240Lys)
c.714C>A
n.737C>A
n.355C>A
n.826C>A
c.146C>A (p.Thr49Lys)
c.272C>A (p.Thr91Lys)
c.635C>A (p.Thr212Lys)
c.482C>A (p.Thr161Lys)
c.716C>A (p.Thr239Lys)
c.833C>A (p.Thr278Lys)
c.479C>A (p.Thr160Lys)
n.825C>A
 dbSNP ExAC gnomAD v2
6g.161973318T>ACA366466815PRKNc.596A>T (n.596A>T)
c.477A>T (n.477A>T)
c.718A>T (p.Thr240Ser)
c.713A>T
n.736A>T
n.354A>T
n.825A>T
c.145A>T (p.Thr49Ser)
c.271A>T (p.Thr91Ser)
c.634A>T (p.Thr212Ser)
c.481A>T (p.Thr161Ser)
c.715A>T (p.Thr239Ser)
c.832A>T (p.Thr278Ser)
c.478A>T (p.Thr160Ser)
n.824A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973318T>CCA366466816PRKNc.596A>G (n.596A>G)
c.477A>G (n.477A>G)
c.718A>G (p.Thr240Ala)
c.713A>G
n.736A>G
n.354A>G
n.825A>G
c.145A>G (p.Thr49Ala)
c.271A>G (p.Thr91Ala)
c.634A>G (p.Thr212Ala)
c.481A>G (p.Thr161Ala)
c.715A>G (p.Thr239Ala)
c.832A>G (p.Thr278Ala)
c.478A>G (p.Thr160Ala)
n.824A>G
 dbSNP gnomAD v4
6g.161973318T>GCA366466817PRKNc.596A>C (n.596A>C)
c.477A>C (n.477A>C)
c.718A>C (p.Thr240Pro)
c.713A>C
n.736A>C
n.354A>C
n.825A>C
c.145A>C (p.Thr49Pro)
c.271A>C (p.Thr91Pro)
c.634A>C (p.Thr212Pro)
c.481A>C (p.Thr161Pro)
c.715A>C (p.Thr239Pro)
c.832A>C (p.Thr278Pro)
c.478A>C (p.Thr160Pro)
n.824A>C
6g.161973318T=CA1677783335PRKNc.596A= (n.596A=)
c.477A= (n.477A=)
c.718A= (p.Thr240=)
c.713A=
n.736A=
n.354A=
n.825A=
c.145A= (p.Thr49=)
c.271A= (p.Thr91=)
c.634A= (p.Thr212=)
c.481A= (p.Thr161=)
c.715A= (p.Thr239=)
c.832A= (p.Thr278=)
c.478A= (p.Thr160=)
n.824A=
6g.161973318dupCA571718902PRKNc.596dup (n.596dup)
c.477dup (n.477dup)
c.718dup (p.Thr240AsnfsTer?)
c.713dup
n.736dup
n.354dup
n.825dup
c.145dup (p.Thr49AsnfsTer?)
c.271dup (p.Thr91AsnfsTer?)
c.634dup (p.Thr212AsnfsTer?)
c.481dup (p.Thr161AsnfsTer?)
c.715dup (p.Thr239AsnfsTer?)
c.718dup (p.Thr240AsnfsTer8)
c.832dup (p.Thr278AsnfsTer?)
c.478dup (p.Thr160AsnfsTer?)
n.824dup
 dbSNP gnomAD v2 gnomAD v4
6g.161973319A>CCA366466818PRKNc.595T>G (n.595T>G)
c.476T>G (n.476T>G)
c.717T>G (p.Ile239Met)
c.712T>G
n.735T>G
n.353T>G
n.824T>G
c.144T>G (p.Ile48Met)
c.270T>G (p.Ile90Met)
c.633T>G (p.Ile211Met)
c.480T>G (p.Ile160Met)
c.714T>G (p.Ile238Met)
c.831T>G (p.Ile277Met)
c.477T>G (p.Ile159Met)
n.823T>G
6g.161973319A>GCA453047738PRKNc.595T>C (n.595T>C)
c.476T>C (n.476T>C)
c.717T>C (p.Ile239=)
c.712T>C
n.735T>C
n.353T>C
n.824T>C
c.144T>C (p.Ile48=)
c.270T>C (p.Ile90=)
c.633T>C (p.Ile211=)
c.480T>C (p.Ile160=)
c.714T>C (p.Ile238=)
c.831T>C (p.Ile277=)
c.477T>C (p.Ile159=)
n.823T>C
6g.161973319A>TCA453047739PRKNc.595T>A (n.595T>A)
c.476T>A (n.476T>A)
c.717T>A (p.Ile239=)
c.712T>A
n.735T>A
n.353T>A
n.824T>A
c.144T>A (p.Ile48=)
c.270T>A (p.Ile90=)
c.633T>A (p.Ile211=)
c.480T>A (p.Ile160=)
c.714T>A (p.Ile238=)
c.831T>A (p.Ile277=)
c.477T>A (p.Ile159=)
n.823T>A
6g.161973320A=CA1677783336PRKNc.594T= (n.594T=)
c.475T= (n.475T=)
c.716T= (p.Ile239=)
c.711T=
n.734T=
n.352T=
n.823T=
c.143T= (p.Ile48=)
c.269T= (p.Ile90=)
c.632T= (p.Ile211=)
c.479T= (p.Ile160=)
c.713T= (p.Ile238=)
c.830T= (p.Ile277=)
c.476T= (p.Ile159=)
n.822T=
6g.161973320A>CCA4090266PRKNc.594T>G (n.594T>G)
c.475T>G (n.475T>G)
c.716T>G (p.Ile239Ser)
c.711T>G
n.734T>G
n.352T>G
n.823T>G
c.143T>G (p.Ile48Ser)
c.269T>G (p.Ile90Ser)
c.632T>G (p.Ile211Ser)
c.479T>G (p.Ile160Ser)
c.713T>G (p.Ile238Ser)
c.830T>G (p.Ile277Ser)
c.476T>G (p.Ile159Ser)
n.822T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973320A>GCA366466819PRKNc.594T>C (n.594T>C)
c.475T>C (n.475T>C)
c.716T>C (p.Ile239Thr)
c.711T>C
n.734T>C
n.352T>C
n.823T>C
c.143T>C (p.Ile48Thr)
c.269T>C (p.Ile90Thr)
c.632T>C (p.Ile211Thr)
c.479T>C (p.Ile160Thr)
c.713T>C (p.Ile238Thr)
c.830T>C (p.Ile277Thr)
c.476T>C (p.Ile159Thr)
n.822T>C
6g.161973320A>TCA366466820PRKNc.594T>A (n.594T>A)
c.475T>A (n.475T>A)
c.716T>A (p.Ile239Asn)
c.711T>A
n.734T>A
n.352T>A
n.823T>A
c.143T>A (p.Ile48Asn)
c.269T>A (p.Ile90Asn)
c.632T>A (p.Ile211Asn)
c.479T>A (p.Ile160Asn)
c.713T>A (p.Ile238Asn)
c.830T>A (p.Ile277Asn)
c.476T>A (p.Ile159Asn)
n.822T>A
6g.161973321T>ACA366466821PRKNc.593A>T (n.593A>T)
c.474A>T (n.474A>T)
c.715A>T (p.Ile239Phe)
c.710A>T
n.733A>T
n.351A>T
n.822A>T
c.142A>T (p.Ile48Phe)
c.268A>T (p.Ile90Phe)
c.631A>T (p.Ile211Phe)
c.478A>T (p.Ile160Phe)
c.712A>T (p.Ile238Phe)
c.829A>T (p.Ile277Phe)
c.475A>T (p.Ile159Phe)
n.821A>T
6g.161973321T>CCA366466822PRKNc.593A>G (n.593A>G)
c.474A>G (n.474A>G)
c.715A>G (p.Ile239Val)
c.710A>G
n.733A>G
n.351A>G
n.822A>G
c.142A>G (p.Ile48Val)
c.268A>G (p.Ile90Val)
c.631A>G (p.Ile211Val)
c.478A>G (p.Ile160Val)
c.712A>G (p.Ile238Val)
c.829A>G (p.Ile277Val)
c.475A>G (p.Ile159Val)
n.821A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973321T>GCA366466823PRKNc.593A>C (n.593A>C)
c.474A>C (n.474A>C)
c.715A>C (p.Ile239Leu)
c.710A>C
n.733A>C
n.351A>C
n.822A>C
c.142A>C (p.Ile48Leu)
c.268A>C (p.Ile90Leu)
c.631A>C (p.Ile211Leu)
c.478A>C (p.Ile160Leu)
c.712A>C (p.Ile238Leu)
c.829A>C (p.Ile277Leu)
c.475A>C (p.Ile159Leu)
n.821A>C
6g.161973321T=CA1677783337PRKNc.593A= (n.593A=)
c.474A= (n.474A=)
c.715A= (p.Ile239=)
c.710A=
n.733A=
n.351A=
n.822A=
c.142A= (p.Ile48=)
c.268A= (p.Ile90=)
c.631A= (p.Ile211=)
c.478A= (p.Ile160=)
c.712A= (p.Ile238=)
c.829A= (p.Ile277=)
c.475A= (p.Ile159=)
n.821A=
6g.161973322G>ACA4090267PRKNc.592C>T (n.592C>T)
c.473C>T (n.473C>T)
c.714C>T (p.Cys238=)
c.709C>T
n.732C>T
n.350C>T
n.821C>T
c.141C>T (p.Cys47=)
c.267C>T (p.Cys89=)
c.630C>T (p.Cys210=)
c.477C>T (p.Cys159=)
c.711C>T (p.Cys237=)
c.828C>T (p.Cys276=)
c.474C>T (p.Cys158=)
n.820C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973322G>CCA4090268PRKNc.592C>G (n.592C>G)
c.473C>G (n.473C>G)
c.714C>G (p.Cys238Trp)
c.709C>G
n.732C>G
n.350C>G
n.821C>G
c.141C>G (p.Cys47Trp)
c.267C>G (p.Cys89Trp)
c.630C>G (p.Cys210Trp)
c.477C>G (p.Cys159Trp)
c.711C>G (p.Cys237Trp)
c.828C>G (p.Cys276Trp)
c.474C>G (p.Cys158Trp)
n.820C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973322G=CA1677783338PRKNc.592C= (n.592C=)
c.473C= (n.473C=)
c.714C= (p.Cys238=)
c.709C=
n.732C=
n.350C=
n.821C=
c.141C= (p.Cys47=)
c.267C= (p.Cys89=)
c.630C= (p.Cys210=)
c.477C= (p.Cys159=)
c.711C= (p.Cys237=)
c.828C= (p.Cys276=)
c.474C= (p.Cys158=)
n.820C=
6g.161973322G>TCA366466824PRKNc.592C>A (n.592C>A)
c.473C>A (n.473C>A)
c.714C>A (p.Cys238Ter)
c.709C>A
n.732C>A
n.350C>A
n.821C>A
c.141C>A (p.Cys47Ter)
c.267C>A (p.Cys89Ter)
c.630C>A (p.Cys210Ter)
c.477C>A (p.Cys159Ter)
c.711C>A (p.Cys237Ter)
c.828C>A (p.Cys276Ter)
c.474C>A (p.Cys158Ter)
n.820C>A
6g.161973323C>ACA366466825PRKNc.591G>T (n.591G>T)
c.472G>T (n.472G>T)
c.713G>T (p.Cys238Phe)
c.708G>T
n.731G>T
n.349G>T
n.820G>T
c.140G>T (p.Cys47Phe)
c.266G>T (p.Cys89Phe)
c.629G>T (p.Cys210Phe)
c.476G>T (p.Cys159Phe)
c.710G>T (p.Cys237Phe)
c.827G>T (p.Cys276Phe)
c.473G>T (p.Cys158Phe)
n.819G>T
6g.161973323C>GCA366466826PRKNc.591G>C (n.591G>C)
c.472G>C (n.472G>C)
c.713G>C (p.Cys238Ser)
c.708G>C
n.731G>C
n.349G>C
n.820G>C
c.140G>C (p.Cys47Ser)
c.266G>C (p.Cys89Ser)
c.629G>C (p.Cys210Ser)
c.476G>C (p.Cys159Ser)
c.710G>C (p.Cys237Ser)
c.827G>C (p.Cys276Ser)
c.473G>C (p.Cys158Ser)
n.819G>C
6g.161973323C>TCA366466827PRKNc.591G>A (n.591G>A)
c.472G>A (n.472G>A)
c.713G>A (p.Cys238Tyr)
c.708G>A
n.731G>A
n.349G>A
n.820G>A
c.140G>A (p.Cys47Tyr)
c.266G>A (p.Cys89Tyr)
c.629G>A (p.Cys210Tyr)
c.476G>A (p.Cys159Tyr)
c.710G>A (p.Cys237Tyr)
c.827G>A (p.Cys276Tyr)
c.473G>A (p.Cys158Tyr)
n.819G>A
 gnomAD v4
6g.161973324A>CCA366466828PRKNc.590T>G (n.590T>G)
c.471T>G (n.471T>G)
c.712T>G (p.Cys238Gly)
c.707T>G
n.730T>G
n.348T>G
n.819T>G
c.139T>G (p.Cys47Gly)
c.265T>G (p.Cys89Gly)
c.628T>G (p.Cys210Gly)
c.475T>G (p.Cys159Gly)
c.709T>G (p.Cys237Gly)
c.826T>G (p.Cys276Gly)
c.472T>G (p.Cys158Gly)
n.818T>G
6g.161973324A>GCA366466829PRKNc.590T>C (n.590T>C)
c.471T>C (n.471T>C)
c.712T>C (p.Cys238Arg)
c.707T>C
n.730T>C
n.348T>C
n.819T>C
c.139T>C (p.Cys47Arg)
c.265T>C (p.Cys89Arg)
c.628T>C (p.Cys210Arg)
c.475T>C (p.Cys159Arg)
c.709T>C (p.Cys237Arg)
c.826T>C (p.Cys276Arg)
c.472T>C (p.Cys158Arg)
n.818T>C
6g.161973324A>TCA366466830PRKNc.590T>A (n.590T>A)
c.471T>A (n.471T>A)
c.712T>A (p.Cys238Ser)
c.707T>A
n.730T>A
n.348T>A
n.819T>A
c.139T>A (p.Cys47Ser)
c.265T>A (p.Cys89Ser)
c.628T>A (p.Cys210Ser)
c.475T>A (p.Cys159Ser)
c.709T>A (p.Cys237Ser)
c.826T>A (p.Cys276Ser)
c.472T>A (p.Cys158Ser)
n.818T>A
6g.161973325delCA2695207288PRKNc.590del (n.590del)
c.471del (n.471del)
c.712del (p.Cys238AlafsTer21)
c.707del
n.730del
n.348del
n.819del
c.139del (p.Cys47AlafsTer21)
c.265del (p.Cys89AlafsTer21)
c.628del (p.Cys210AlafsTer21)
c.475del (p.Cys159AlafsTer21)
c.709del (p.Cys237AlafsTer21)
c.712del (p.Cys238AlafsTer28)
c.712del (p.Cys238AlafsTer15)
c.826del (p.Cys276AlafsTer21)
c.472del (p.Cys158AlafsTer21)
n.818del
6g.161973324_161973327dupCA2681114562PRKNc.587_590dup (n.587_590dup)
c.468_471dup (n.468_471dup)
c.709_712dup (p.Cys238TyrfsTer?)
c.704_707dup
n.727_730dup
n.345_348dup
n.816_819dup
c.136_139dup (p.Cys47TyrfsTer?)
c.262_265dup (p.Cys89TyrfsTer?)
c.625_628dup (p.Cys210TyrfsTer?)
c.472_475dup (p.Cys159TyrfsTer?)
c.706_709dup (p.Cys237TyrfsTer?)
c.709_712dup (p.Cys238TyrfsTer11)
c.823_826dup (p.Cys276TyrfsTer?)
c.469_472dup (p.Cys158TyrfsTer?)
n.815_818dup
 gnomAD v4
6g.161973325A>CCA453047740PRKNc.589T>G (n.589T>G)
c.470T>G (n.470T>G)
c.711T>G (p.Thr237=)
c.706T>G
n.729T>G
n.347T>G
n.818T>G
c.138T>G (p.Thr46=)
c.264T>G (p.Thr88=)
c.627T>G (p.Thr209=)
c.474T>G (p.Thr158=)
c.708T>G (p.Thr236=)
c.825T>G (p.Thr275=)
c.471T>G (p.Thr157=)
n.817T>G
6g.161973325A>GCA453047741PRKNc.589T>C (n.589T>C)
c.470T>C (n.470T>C)
c.711T>C (p.Thr237=)
c.706T>C
n.729T>C
n.347T>C
n.818T>C
c.138T>C (p.Thr46=)
c.264T>C (p.Thr88=)
c.627T>C (p.Thr209=)
c.474T>C (p.Thr158=)
c.708T>C (p.Thr236=)
c.825T>C (p.Thr275=)
c.471T>C (p.Thr157=)
n.817T>C
 gnomAD v4
6g.161973325A>TCA453047742PRKNc.589T>A (n.589T>A)
c.470T>A (n.470T>A)
c.711T>A (p.Thr237=)
c.706T>A
n.729T>A
n.347T>A
n.818T>A
c.138T>A (p.Thr46=)
c.264T>A (p.Thr88=)
c.627T>A (p.Thr209=)
c.474T>A (p.Thr158=)
c.708T>A (p.Thr236=)
c.825T>A (p.Thr275=)
c.471T>A (p.Thr157=)
n.817T>A
6g.161973325_161973326delinsAGCA1677783339PRKNc.588_589delinsCT (n.588_589delinsCT)
c.469_470delinsCT (n.469_470delinsCT)
c.710_711delinsCT (p.Thr237=)
c.705_706delinsCT
n.728_729delinsCT
n.346_347delinsCT
n.817_818delinsCT
c.137_138delinsCT (p.Thr46=)
c.263_264delinsCT (p.Thr88=)
c.626_627delinsCT (p.Thr209=)
c.473_474delinsCT (p.Thr158=)
c.707_708delinsCT (p.Thr236=)
c.824_825delinsCT (p.Thr275=)
c.470_471delinsCT (p.Thr157=)
n.816_817delinsCT
6g.161973326delCA4090269PRKNc.588del (n.588del)
c.469del (n.469del)
c.710del (p.Thr237IlefsTer22)
c.705del
n.728del
n.346del
n.817del
c.137del (p.Thr46IlefsTer22)
c.263del (p.Thr88IlefsTer22)
c.626del (p.Thr209IlefsTer22)
c.473del (p.Thr158IlefsTer22)
c.707del (p.Thr236IlefsTer22)
c.710del (p.Thr237IlefsTer29)
c.710del (p.Thr237IlefsTer16)
c.824del (p.Thr275IlefsTer22)
c.470del (p.Thr157IlefsTer22)
n.816del
 dbSNP ExAC
6g.161973326G>ACA366466831PRKNc.588C>T (n.588C>T)
c.469C>T (n.469C>T)
c.710C>T (p.Thr237Ile)
c.705C>T
n.728C>T
n.346C>T
n.817C>T
c.137C>T (p.Thr46Ile)
c.263C>T (p.Thr88Ile)
c.626C>T (p.Thr209Ile)
c.473C>T (p.Thr158Ile)
c.707C>T (p.Thr236Ile)
c.824C>T (p.Thr275Ile)
c.470C>T (p.Thr157Ile)
n.816C>T
 dbSNP gnomAD v3 gnomAD v4
6g.161973326G>CCA366466832PRKNc.588C>G (n.588C>G)
c.469C>G (n.469C>G)
c.710C>G (p.Thr237Ser)
c.705C>G
n.728C>G
n.346C>G
n.817C>G
c.137C>G (p.Thr46Ser)
c.263C>G (p.Thr88Ser)
c.626C>G (p.Thr209Ser)
c.473C>G (p.Thr158Ser)
c.707C>G (p.Thr236Ser)
c.824C>G (p.Thr275Ser)
c.470C>G (p.Thr157Ser)
n.816C>G
 dbSNP gnomAD v2 gnomAD v4
6g.161973326G=CA1677783340PRKNc.588C= (n.588C=)
c.469C= (n.469C=)
c.710C= (p.Thr237=)
c.705C=
n.728C=
n.346C=
n.817C=
c.137C= (p.Thr46=)
c.263C= (p.Thr88=)
c.626C= (p.Thr209=)
c.473C= (p.Thr158=)
c.707C= (p.Thr236=)
c.824C= (p.Thr275=)
c.470C= (p.Thr157=)
n.816C=
6g.161973326G>TCA366466833PRKNc.588C>A (n.588C>A)
c.469C>A (n.469C>A)
c.710C>A (p.Thr237Asn)
c.705C>A
n.728C>A
n.346C>A
n.817C>A
c.137C>A (p.Thr46Asn)
c.263C>A (p.Thr88Asn)
c.626C>A (p.Thr209Asn)
c.473C>A (p.Thr158Asn)
c.707C>A (p.Thr236Asn)
c.824C>A (p.Thr275Asn)
c.470C>A (p.Thr157Asn)
n.816C>A
6g.161973327T>ACA366466834PRKNc.587A>T (n.587A>T)
c.468A>T (n.468A>T)
c.709A>T (p.Thr237Ser)
c.704A>T
n.727A>T
n.345A>T
n.816A>T
c.136A>T (p.Thr46Ser)
c.262A>T (p.Thr88Ser)
c.625A>T (p.Thr209Ser)
c.472A>T (p.Thr158Ser)
c.706A>T (p.Thr236Ser)
c.823A>T (p.Thr275Ser)
c.469A>T (p.Thr157Ser)
n.815A>T
6g.161973327T>CCA366466835PRKNc.587A>G (n.587A>G)
c.468A>G (n.468A>G)
c.709A>G (p.Thr237Ala)
c.704A>G
n.727A>G
n.345A>G
n.816A>G
c.136A>G (p.Thr46Ala)
c.262A>G (p.Thr88Ala)
c.625A>G (p.Thr209Ala)
c.472A>G (p.Thr158Ala)
c.706A>G (p.Thr236Ala)
c.823A>G (p.Thr275Ala)
c.469A>G (p.Thr157Ala)
n.815A>G
 gnomAD v4 COSMIC COSMIC
6g.161973327T>GCA366466836PRKNc.587A>C (n.587A>C)
c.468A>C (n.468A>C)
c.709A>C (p.Thr237Pro)
c.704A>C
n.727A>C
n.345A>C
n.816A>C
c.136A>C (p.Thr46Pro)
c.262A>C (p.Thr88Pro)
c.625A>C (p.Thr209Pro)
c.472A>C (p.Thr158Pro)
c.706A>C (p.Thr236Pro)
c.823A>C (p.Thr275Pro)
c.469A>C (p.Thr157Pro)
n.815A>C
 dbSNP gnomAD v2 gnomAD v4
6g.161973327T=CA1677783341PRKNc.587A= (n.587A=)
c.468A= (n.468A=)
c.709A= (p.Thr237=)
c.704A=
n.727A=
n.345A=
n.816A=
c.136A= (p.Thr46=)
c.262A= (p.Thr88=)
c.625A= (p.Thr209=)
c.472A= (p.Thr158=)
c.706A= (p.Thr236=)
c.823A= (p.Thr275=)
c.469A= (p.Thr157=)
n.815A=
6g.161973328G>ACA453047743PRKNc.586C>T (n.586C>T)
c.467C>T (n.467C>T)
c.708C>T (p.Ile236=)
c.703C>T
n.726C>T
n.344C>T
n.815C>T
c.135C>T (p.Ile45=)
c.261C>T (p.Ile87=)
c.624C>T (p.Ile208=)
c.471C>T (p.Ile157=)
c.705C>T (p.Ile235=)
c.822C>T (p.Ile274=)
c.468C>T (p.Ile156=)
n.814C>T
 gnomAD v4
6g.161973328G>CCA366466837PRKNc.586C>G (n.586C>G)
c.467C>G (n.467C>G)
c.708C>G (p.Ile236Met)
c.703C>G
n.726C>G
n.344C>G
n.815C>G
c.135C>G (p.Ile45Met)
c.261C>G (p.Ile87Met)
c.624C>G (p.Ile208Met)
c.471C>G (p.Ile157Met)
c.705C>G (p.Ile235Met)
c.822C>G (p.Ile274Met)
c.468C>G (p.Ile156Met)
n.814C>G
6g.161973328G>TCA453047744PRKNc.586C>A (n.586C>A)
c.467C>A (n.467C>A)
c.708C>A (p.Ile236=)
c.703C>A
n.726C>A
n.344C>A
n.815C>A
c.135C>A (p.Ile45=)
c.261C>A (p.Ile87=)
c.624C>A (p.Ile208=)
c.471C>A (p.Ile157=)
c.705C>A (p.Ile235=)
c.822C>A (p.Ile274=)
c.468C>A (p.Ile156=)
n.814C>A
 gnomAD v4
6g.161973329A>CCA366466839PRKNc.585T>G (n.585T>G)
c.466T>G (n.466T>G)
c.707T>G (p.Ile236Ser)
c.702T>G
n.725T>G
n.343T>G
n.814T>G
c.134T>G (p.Ile45Ser)
c.260T>G (p.Ile87Ser)
c.623T>G (p.Ile208Ser)
c.470T>G (p.Ile157Ser)
c.704T>G (p.Ile235Ser)
c.821T>G (p.Ile274Ser)
c.467T>G (p.Ile156Ser)
n.813T>G
6g.161973329A>GCA366466840PRKNc.585T>C (n.585T>C)
c.466T>C (n.466T>C)
c.707T>C (p.Ile236Thr)
c.702T>C
n.725T>C
n.343T>C
n.814T>C
c.134T>C (p.Ile45Thr)
c.260T>C (p.Ile87Thr)
c.623T>C (p.Ile208Thr)
c.470T>C (p.Ile157Thr)
c.704T>C (p.Ile235Thr)
c.821T>C (p.Ile274Thr)
c.467T>C (p.Ile156Thr)
n.813T>C
6g.161973329A>TCA366466838PRKNc.585T>A (n.585T>A)
c.466T>A (n.466T>A)
c.707T>A (p.Ile236Asn)
c.702T>A
n.725T>A
n.343T>A
n.814T>A
c.134T>A (p.Ile45Asn)
c.260T>A (p.Ile87Asn)
c.623T>A (p.Ile208Asn)
c.470T>A (p.Ile157Asn)
c.704T>A (p.Ile235Asn)
c.821T>A (p.Ile274Asn)
c.467T>A (p.Ile156Asn)
n.813T>A
6g.161973330T>ACA366466841PRKNc.584A>T (n.584A>T)
c.465A>T (n.465A>T)
c.706A>T (p.Ile236Phe)
c.701A>T
n.724A>T
n.342A>T
n.813A>T
c.133A>T (p.Ile45Phe)
c.259A>T (p.Ile87Phe)
c.622A>T (p.Ile208Phe)
c.469A>T (p.Ile157Phe)
c.703A>T (p.Ile235Phe)
c.820A>T (p.Ile274Phe)
c.466A>T (p.Ile156Phe)
n.812A>T
6g.161973330T>CCA10623398PRKNc.584A>G (n.584A>G)
c.465A>G (n.465A>G)
c.706A>G (p.Ile236Val)
c.701A>G
n.724A>G
n.342A>G
n.813A>G
c.133A>G (p.Ile45Val)
c.259A>G (p.Ile87Val)
c.622A>G (p.Ile208Val)
c.469A>G (p.Ile157Val)
c.703A>G (p.Ile235Val)
c.820A>G (p.Ile274Val)
c.466A>G (p.Ile156Val)
n.812A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.161973330T>GCA366466842PRKNc.584A>C (n.584A>C)
c.465A>C (n.465A>C)
c.706A>C (p.Ile236Leu)
c.701A>C
n.724A>C
n.342A>C
n.813A>C
c.133A>C (p.Ile45Leu)
c.259A>C (p.Ile87Leu)
c.622A>C (p.Ile208Leu)
c.469A>C (p.Ile157Leu)
c.703A>C (p.Ile235Leu)
c.820A>C (p.Ile274Leu)
c.466A>C (p.Ile156Leu)
n.812A>C
6g.161973330T=CA1677783342PRKNc.584A= (n.584A=)
c.465A= (n.465A=)
c.706A= (p.Ile236=)
c.701A=
n.724A=
n.342A=
n.813A=
c.133A= (p.Ile45=)
c.259A= (p.Ile87=)
c.622A= (p.Ile208=)
c.469A= (p.Ile157=)
c.703A= (p.Ile235=)
c.820A= (p.Ile274=)
c.466A= (p.Ile156=)
n.812A=
6g.161973331G>ACA453047745PRKNc.583C>T (n.583C>T)
c.464C>T (n.464C>T)
c.705C>T (p.Asn235=)
c.700C>T
n.723C>T
n.341C>T
n.812C>T
c.132C>T (p.Asn44=)
c.258C>T (p.Asn86=)
c.621C>T (p.Asn207=)
c.468C>T (p.Asn156=)
c.702C>T (p.Asn234=)
c.819C>T (p.Asn273=)
c.465C>T (p.Asn155=)
n.811C>T
 dbSNP gnomAD v3 gnomAD v4
6g.161973331G>CCA366466843PRKNc.583C>G (n.583C>G)
c.464C>G (n.464C>G)
c.705C>G (p.Asn235Lys)
c.700C>G
n.723C>G
n.341C>G
n.812C>G
c.132C>G (p.Asn44Lys)
c.258C>G (p.Asn86Lys)
c.621C>G (p.Asn207Lys)
c.468C>G (p.Asn156Lys)
c.702C>G (p.Asn234Lys)
c.819C>G (p.Asn273Lys)
c.465C>G (p.Asn155Lys)
n.811C>G
6g.161973331G=CA1677783343PRKNc.583C= (n.583C=)
c.464C= (n.464C=)
c.705C= (p.Asn235=)
c.700C=
n.723C=
n.341C=
n.812C=
c.132C= (p.Asn44=)
c.258C= (p.Asn86=)
c.621C= (p.Asn207=)
c.468C= (p.Asn156=)
c.702C= (p.Asn234=)
c.819C= (p.Asn273=)
c.465C= (p.Asn155=)
n.811C=
6g.161973331G>TCA366466844PRKNc.583C>A (n.583C>A)
c.464C>A (n.464C>A)
c.705C>A (p.Asn235Lys)
c.700C>A
n.723C>A
n.341C>A
n.812C>A
c.132C>A (p.Asn44Lys)
c.258C>A (p.Asn86Lys)
c.621C>A (p.Asn207Lys)
c.468C>A (p.Asn156Lys)
c.702C>A (p.Asn234Lys)
c.819C>A (p.Asn273Lys)
c.465C>A (p.Asn155Lys)
n.811C>A
6g.161973332T>ACA366466845PRKNc.582A>T (n.582A>T)
c.463A>T (n.463A>T)
c.704A>T (p.Asn235Ile)
c.699A>T
n.722A>T
n.340A>T
n.811A>T
c.131A>T (p.Asn44Ile)
c.257A>T (p.Asn86Ile)
c.620A>T (p.Asn207Ile)
c.467A>T (p.Asn156Ile)
c.701A>T (p.Asn234Ile)
c.818A>T (p.Asn273Ile)
c.464A>T (p.Asn155Ile)
n.810A>T
6g.161973332T>CCA366466846PRKNc.582A>G (n.582A>G)
c.463A>G (n.463A>G)
c.704A>G (p.Asn235Ser)
c.699A>G
n.722A>G
n.340A>G
n.811A>G
c.131A>G (p.Asn44Ser)
c.257A>G (p.Asn86Ser)
c.620A>G (p.Asn207Ser)
c.467A>G (p.Asn156Ser)
c.701A>G (p.Asn234Ser)
c.818A>G (p.Asn273Ser)
c.464A>G (p.Asn155Ser)
n.810A>G
6g.161973332T>GCA366466847PRKNc.582A>C (n.582A>C)
c.463A>C (n.463A>C)
c.704A>C (p.Asn235Thr)
c.699A>C
n.722A>C
n.340A>C
n.811A>C
c.131A>C (p.Asn44Thr)
c.257A>C (p.Asn86Thr)
c.620A>C (p.Asn207Thr)
c.467A>C (p.Asn156Thr)
c.701A>C (p.Asn234Thr)
c.818A>C (p.Asn273Thr)
c.464A>C (p.Asn155Thr)
n.810A>C
6g.161973333T>ACA366466848PRKNc.581A>T (n.581A>T)
c.462A>T (n.462A>T)
c.703A>T (p.Asn235Tyr)
c.698A>T
n.721A>T
n.339A>T
n.810A>T
c.130A>T (p.Asn44Tyr)
c.256A>T (p.Asn86Tyr)
c.619A>T (p.Asn207Tyr)
c.466A>T (p.Asn156Tyr)
c.700A>T (p.Asn234Tyr)
c.817A>T (p.Asn273Tyr)
c.463A>T (p.Asn155Tyr)
n.809A>T
6g.161973333T>CCA366466849PRKNc.581A>G (n.581A>G)
c.462A>G (n.462A>G)
c.703A>G (p.Asn235Asp)
c.698A>G
n.721A>G
n.339A>G
n.810A>G
c.130A>G (p.Asn44Asp)
c.256A>G (p.Asn86Asp)
c.619A>G (p.Asn207Asp)
c.466A>G (p.Asn156Asp)
c.700A>G (p.Asn234Asp)
c.817A>G (p.Asn273Asp)
c.463A>G (p.Asn155Asp)
n.809A>G
6g.161973333T>GCA366466850PRKNc.581A>C (n.581A>C)
c.462A>C (n.462A>C)
c.703A>C (p.Asn235His)
c.698A>C
n.721A>C
n.339A>C
n.810A>C
c.130A>C (p.Asn44His)
c.256A>C (p.Asn86His)
c.619A>C (p.Asn207His)
c.466A>C (p.Asn156His)
c.700A>C (p.Asn234His)
c.817A>C (p.Asn273His)
c.463A>C (p.Asn155His)
n.809A>C
6g.161973334C>ACA453047746PRKNc.580G>T (n.580G>T)
c.461G>T (n.461G>T)
c.702G>T (p.Arg234=)
c.697G>T
n.720G>T
n.338G>T
n.809G>T
c.129G>T (p.Arg43=)
c.255G>T (p.Arg85=)
c.618G>T (p.Arg206=)
c.465G>T (p.Arg155=)
c.699G>T (p.Arg233=)
c.816G>T (p.Arg272=)
c.462G>T (p.Arg154=)
n.808G>T
6g.161973334C=CA1677783344PRKNc.580G= (n.580G=)
c.461G= (n.461G=)
c.702G= (p.Arg234=)
c.697G=
n.720G=
n.338G=
n.809G=
c.129G= (p.Arg43=)
c.255G= (p.Arg85=)
c.618G= (p.Arg206=)
c.465G= (p.Arg155=)
c.699G= (p.Arg233=)
c.816G= (p.Arg272=)
c.462G= (p.Arg154=)
n.808G=
6g.161973334C>GCA453047748PRKNc.580G>C (n.580G>C)
c.461G>C (n.461G>C)
c.702G>C (p.Arg234=)
c.697G>C
n.720G>C
n.338G>C
n.809G>C
c.129G>C (p.Arg43=)
c.255G>C (p.Arg85=)
c.618G>C (p.Arg206=)
c.465G>C (p.Arg155=)
c.699G>C (p.Arg233=)
c.816G>C (p.Arg272=)
c.462G>C (p.Arg154=)
n.808G>C
6g.161973334C>TCA453047747PRKNc.580G>A (n.580G>A)
c.461G>A (n.461G>A)
c.702G>A (p.Arg234=)
c.697G>A
n.720G>A
n.338G>A
n.809G>A
c.129G>A (p.Arg43=)
c.255G>A (p.Arg85=)
c.618G>A (p.Arg206=)
c.465G>A (p.Arg155=)
c.699G>A (p.Arg233=)
c.816G>A (p.Arg272=)
c.462G>A (p.Arg154=)
n.808G>A
 dbSNP gnomAD v4
6g.161973335C>ACA366466852PRKNc.579G>T (n.579G>T)
c.460G>T (n.460G>T)
c.701G>T (p.Arg234Leu)
c.696G>T
n.719G>T
n.337G>T
n.808G>T
c.128G>T (p.Arg43Leu)
c.254G>T (p.Arg85Leu)
c.617G>T (p.Arg206Leu)
c.464G>T (p.Arg155Leu)
c.698G>T (p.Arg233Leu)
c.815G>T (p.Arg272Leu)
c.461G>T (p.Arg154Leu)
n.807G>T
 gnomAD v4
6g.161973335C=CA1677783345PRKNc.579G= (n.579G=)
c.460G= (n.460G=)
c.701G= (p.Arg234=)
c.696G=
n.719G=
n.337G=
n.808G=
c.128G= (p.Arg43=)
c.254G= (p.Arg85=)
c.617G= (p.Arg206=)
c.464G= (p.Arg155=)
c.698G= (p.Arg233=)
c.815G= (p.Arg272=)
c.461G= (p.Arg154=)
n.807G=
6g.161973335C>GCA366466851PRKNc.579G>C (n.579G>C)
c.460G>C (n.460G>C)
c.701G>C (p.Arg234Pro)
c.696G>C
n.719G>C
n.337G>C
n.808G>C
c.128G>C (p.Arg43Pro)
c.254G>C (p.Arg85Pro)
c.617G>C (p.Arg206Pro)
c.464G>C (p.Arg155Pro)
c.698G>C (p.Arg233Pro)
c.815G>C (p.Arg272Pro)
c.461G>C (p.Arg154Pro)
n.807G>C
6g.161973335C>TCA4090270PRKNc.579G>A (n.579G>A)
c.460G>A (n.460G>A)
c.701G>A (p.Arg234Gln)
c.696G>A
n.719G>A
n.337G>A
n.808G>A
c.128G>A (p.Arg43Gln)
c.254G>A (p.Arg85Gln)
c.617G>A (p.Arg206Gln)
c.464G>A (p.Arg155Gln)
c.698G>A (p.Arg233Gln)
c.815G>A (p.Arg272Gln)
c.461G>A (p.Arg154Gln)
n.807G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973336G>ACA4090271PRKNc.578C>T (n.578C>T)
c.459C>T (n.459C>T)
c.700C>T (p.Arg234Trp)
c.695C>T
n.718C>T
n.336C>T
n.807C>T
c.127C>T (p.Arg43Trp)
c.253C>T (p.Arg85Trp)
c.616C>T (p.Arg206Trp)
c.463C>T (p.Arg155Trp)
c.697C>T (p.Arg233Trp)
c.814C>T (p.Arg272Trp)
c.460C>T (p.Arg154Trp)
n.806C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973336G>CCA366466853PRKNc.578C>G (n.578C>G)
c.459C>G (n.459C>G)
c.700C>G (p.Arg234Gly)
c.695C>G
n.718C>G
n.336C>G
n.807C>G
c.127C>G (p.Arg43Gly)
c.253C>G (p.Arg85Gly)
c.616C>G (p.Arg206Gly)
c.463C>G (p.Arg155Gly)
c.697C>G (p.Arg233Gly)
c.814C>G (p.Arg272Gly)
c.460C>G (p.Arg154Gly)
n.806C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973336G=CA1677783346PRKNc.578C= (n.578C=)
c.459C= (n.459C=)
c.700C= (p.Arg234=)
c.695C=
n.718C=
n.336C=
n.807C=
c.127C= (p.Arg43=)
c.253C= (p.Arg85=)
c.616C= (p.Arg206=)
c.463C= (p.Arg155=)
c.697C= (p.Arg233=)
c.814C= (p.Arg272=)
c.460C= (p.Arg154=)
n.806C=
6g.161973336G>TCA453047749PRKNc.578C>A (n.578C>A)
c.459C>A (n.459C>A)
c.700C>A (p.Arg234=)
c.695C>A
n.718C>A
n.336C>A
n.807C>A
c.127C>A (p.Arg43=)
c.253C>A (p.Arg85=)
c.616C>A (p.Arg206=)
c.463C>A (p.Arg155=)
c.697C>A (p.Arg233=)
c.814C>A (p.Arg272=)
c.460C>A (p.Arg154=)
n.806C>A
 gnomAD v4
6g.161973337A=CA1677783347PRKNc.577T= (n.577T=)
c.458T= (n.458T=)
c.699T= (p.Ser233=)
c.694T=
n.717T=
n.335T=
n.806T=
c.126T= (p.Ser42=)
c.252T= (p.Ser84=)
c.615T= (p.Ser205=)
c.462T= (p.Ser154=)
c.696T= (p.Ser232=)
c.813T= (p.Ser271=)
c.459T= (p.Ser153=)
n.805T=
6g.161973337A>CCA366466854PRKNc.577T>G (n.577T>G)
c.458T>G (n.458T>G)
c.699T>G (p.Ser233Arg)
c.694T>G
n.717T>G
n.335T>G
n.806T>G
c.126T>G (p.Ser42Arg)
c.252T>G (p.Ser84Arg)
c.615T>G (p.Ser205Arg)
c.462T>G (p.Ser154Arg)
c.696T>G (p.Ser232Arg)
c.813T>G (p.Ser271Arg)
c.459T>G (p.Ser153Arg)
n.805T>G
6g.161973337A>GCA453047750PRKNc.577T>C (n.577T>C)
c.458T>C (n.458T>C)
c.699T>C (p.Ser233=)
c.694T>C
n.717T>C
n.335T>C
n.806T>C
c.126T>C (p.Ser42=)
c.252T>C (p.Ser84=)
c.615T>C (p.Ser205=)
c.462T>C (p.Ser154=)
c.696T>C (p.Ser232=)
c.813T>C (p.Ser271=)
c.459T>C (p.Ser153=)
n.805T>C
 dbSNP gnomAD v2
6g.161973337A>TCA366466855PRKNc.577T>A (n.577T>A)
c.458T>A (n.458T>A)
c.699T>A (p.Ser233Arg)
c.694T>A
n.717T>A
n.335T>A
n.806T>A
c.126T>A (p.Ser42Arg)
c.252T>A (p.Ser84Arg)
c.615T>A (p.Ser205Arg)
c.462T>A (p.Ser154Arg)
c.696T>A (p.Ser232Arg)
c.813T>A (p.Ser271Arg)
c.459T>A (p.Ser153Arg)
n.805T>A
6g.161973338C>ACA366466856PRKNc.576G>T (n.576G>T)
c.457G>T (n.457G>T)
c.698G>T (p.Ser233Ile)
c.693G>T
n.716G>T
n.334G>T
n.805G>T
c.125G>T (p.Ser42Ile)
c.251G>T (p.Ser84Ile)
c.614G>T (p.Ser205Ile)
c.461G>T (p.Ser154Ile)
c.695G>T (p.Ser232Ile)
c.812G>T (p.Ser271Ile)
c.458G>T (p.Ser153Ile)
n.804G>T
6g.161973338C>GCA366466857PRKNc.576G>C (n.576G>C)
c.457G>C (n.457G>C)
c.698G>C (p.Ser233Thr)
c.693G>C
n.716G>C
n.334G>C
n.805G>C
c.125G>C (p.Ser42Thr)
c.251G>C (p.Ser84Thr)
c.614G>C (p.Ser205Thr)
c.461G>C (p.Ser154Thr)
c.695G>C (p.Ser232Thr)
c.812G>C (p.Ser271Thr)
c.458G>C (p.Ser153Thr)
n.804G>C
6g.161973338C>TCA366466858PRKNc.576G>A (n.576G>A)
c.457G>A (n.457G>A)
c.698G>A (p.Ser233Asn)
c.693G>A
n.716G>A
n.334G>A
n.805G>A
c.125G>A (p.Ser42Asn)
c.251G>A (p.Ser84Asn)
c.614G>A (p.Ser205Asn)
c.461G>A (p.Ser154Asn)
c.695G>A (p.Ser232Asn)
c.812G>A (p.Ser271Asn)
c.458G>A (p.Ser153Asn)
n.804G>A
6g.161973339T>ACA366466859PRKNc.575A>T (n.575A>T)
c.456A>T (n.456A>T)
c.697A>T (p.Ser233Cys)
c.692A>T
n.715A>T
n.333A>T
n.804A>T
c.124A>T (p.Ser42Cys)
c.250A>T (p.Ser84Cys)
c.613A>T (p.Ser205Cys)
c.460A>T (p.Ser154Cys)
c.694A>T (p.Ser232Cys)
c.811A>T (p.Ser271Cys)
c.457A>T (p.Ser153Cys)
n.803A>T
6g.161973339T>CCA366466860PRKNc.575A>G (n.575A>G)
c.456A>G (n.456A>G)
c.697A>G (p.Ser233Gly)
c.692A>G
n.715A>G
n.333A>G
n.804A>G
c.124A>G (p.Ser42Gly)
c.250A>G (p.Ser84Gly)
c.613A>G (p.Ser205Gly)
c.460A>G (p.Ser154Gly)
c.694A>G (p.Ser232Gly)
c.811A>G (p.Ser271Gly)
c.457A>G (p.Ser153Gly)
n.803A>G
6g.161973339T>GCA366466861PRKNc.575A>C (n.575A>C)
c.456A>C (n.456A>C)
c.697A>C (p.Ser233Arg)
c.692A>C
n.715A>C
n.333A>C
n.804A>C
c.124A>C (p.Ser42Arg)
c.250A>C (p.Ser84Arg)
c.613A>C (p.Ser205Arg)
c.460A>C (p.Ser154Arg)
c.694A>C (p.Ser232Arg)
c.811A>C (p.Ser271Arg)
c.457A>C (p.Ser153Arg)
n.803A>C
6g.161973340A=CA1677783348PRKNc.574T= (n.574T=)
c.455T= (n.455T=)
c.696T= (p.Asn232=)
c.691T=
n.714T=
n.332T=
n.803T=
c.123T= (p.Asn41=)
c.249T= (p.Asn83=)
c.612T= (p.Asn204=)
c.459T= (p.Asn153=)
c.693T= (p.Asn231=)
c.810T= (p.Asn270=)
c.456T= (p.Asn152=)
n.802T=
6g.161973340A>CCA366466862PRKNc.574T>G (n.574T>G)
c.455T>G (n.455T>G)
c.696T>G (p.Asn232Lys)
c.691T>G
n.714T>G
n.332T>G
n.803T>G
c.123T>G (p.Asn41Lys)
c.249T>G (p.Asn83Lys)
c.612T>G (p.Asn204Lys)
c.459T>G (p.Asn153Lys)
c.693T>G (p.Asn231Lys)
c.810T>G (p.Asn270Lys)
c.456T>G (p.Asn152Lys)
n.802T>G
6g.161973340A>GCA4090272PRKNc.574T>C (n.574T>C)
c.455T>C (n.455T>C)
c.696T>C (p.Asn232=)
c.691T>C
n.714T>C
n.332T>C
n.803T>C
c.123T>C (p.Asn41=)
c.249T>C (p.Asn83=)
c.612T>C (p.Asn204=)
c.459T>C (p.Asn153=)
c.693T>C (p.Asn231=)
c.810T>C (p.Asn270=)
c.456T>C (p.Asn152=)
n.802T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973340A>TCA366466863PRKNc.574T>A (n.574T>A)
c.455T>A (n.455T>A)
c.696T>A (p.Asn232Lys)
c.691T>A
n.714T>A
n.332T>A
n.803T>A
c.123T>A (p.Asn41Lys)
c.249T>A (p.Asn83Lys)
c.612T>A (p.Asn204Lys)
c.459T>A (p.Asn153Lys)
c.693T>A (p.Asn231Lys)
c.810T>A (p.Asn270Lys)
c.456T>A (p.Asn152Lys)
n.802T>A
6g.161973341T>ACA366466865PRKNc.573A>T (n.573A>T)
c.454A>T (n.454A>T)
c.695A>T (p.Asn232Ile)
c.690A>T
n.713A>T
n.331A>T
n.802A>T
c.122A>T (p.Asn41Ile)
c.248A>T (p.Asn83Ile)
c.611A>T (p.Asn204Ile)
c.458A>T (p.Asn153Ile)
c.692A>T (p.Asn231Ile)
c.809A>T (p.Asn270Ile)
c.455A>T (p.Asn152Ile)
n.801A>T
6g.161973341T>CCA366466866PRKNc.573A>G (n.573A>G)
c.454A>G (n.454A>G)
c.695A>G (p.Asn232Ser)
c.690A>G
n.713A>G
n.331A>G
n.802A>G
c.122A>G (p.Asn41Ser)
c.248A>G (p.Asn83Ser)
c.611A>G (p.Asn204Ser)
c.458A>G (p.Asn153Ser)
c.692A>G (p.Asn231Ser)
c.809A>G (p.Asn270Ser)
c.455A>G (p.Asn152Ser)
n.801A>G
 gnomAD v4
6g.161973341T>GCA366466864PRKNc.573A>C (n.573A>C)
c.454A>C (n.454A>C)
c.695A>C (p.Asn232Thr)
c.690A>C
n.713A>C
n.331A>C
n.802A>C
c.122A>C (p.Asn41Thr)
c.248A>C (p.Asn83Thr)
c.611A>C (p.Asn204Thr)
c.458A>C (p.Asn153Thr)
c.692A>C (p.Asn231Thr)
c.809A>C (p.Asn270Thr)
c.455A>C (p.Asn152Thr)
n.801A>C
6g.161973342T>ACA366466867PRKNc.572A>T (n.572A>T)
c.453A>T (n.453A>T)
c.694A>T (p.Asn232Tyr)
c.689A>T
n.712A>T
n.330A>T
n.801A>T
c.121A>T (p.Asn41Tyr)
c.247A>T (p.Asn83Tyr)
c.610A>T (p.Asn204Tyr)
c.457A>T (p.Asn153Tyr)
c.691A>T (p.Asn231Tyr)
c.808A>T (p.Asn270Tyr)
c.454A>T (p.Asn152Tyr)
n.800A>T
6g.161973342T>CCA366466869PRKNc.572A>G (n.572A>G)
c.453A>G (n.453A>G)
c.694A>G (p.Asn232Asp)
c.689A>G
n.712A>G
n.330A>G
n.801A>G
c.121A>G (p.Asn41Asp)
c.247A>G (p.Asn83Asp)
c.610A>G (p.Asn204Asp)
c.457A>G (p.Asn153Asp)
c.691A>G (p.Asn231Asp)
c.808A>G (p.Asn270Asp)
c.454A>G (p.Asn152Asp)
n.800A>G
6g.161973342T>GCA366466868PRKNc.572A>C (n.572A>C)
c.453A>C (n.453A>C)
c.694A>C (p.Asn232His)
c.689A>C
n.712A>C
n.330A>C
n.801A>C
c.121A>C (p.Asn41His)
c.247A>C (p.Asn83His)
c.610A>C (p.Asn204His)
c.457A>C (p.Asn153His)
c.691A>C (p.Asn231His)
c.808A>C (p.Asn270His)
c.454A>C (p.Asn152His)
n.800A>C
6g.161973343T>ACA453047752PRKNc.571A>T (n.571A>T)
c.452A>T (n.452A>T)
c.693A>T (p.Thr231=)
c.688A>T
n.711A>T
n.329A>T
n.800A>T
c.120A>T (p.Thr40=)
c.246A>T (p.Thr82=)
c.609A>T (p.Thr203=)
c.456A>T (p.Thr152=)
c.690A>T (p.Thr230=)
c.807A>T (p.Thr269=)
c.453A>T (p.Thr151=)
n.799A>T
6g.161973343T>CCA453047753PRKNc.571A>G (n.571A>G)
c.452A>G (n.452A>G)
c.693A>G (p.Thr231=)
c.688A>G
n.711A>G
n.329A>G
n.800A>G
c.120A>G (p.Thr40=)
c.246A>G (p.Thr82=)
c.609A>G (p.Thr203=)
c.456A>G (p.Thr152=)
c.690A>G (p.Thr230=)
c.807A>G (p.Thr269=)
c.453A>G (p.Thr151=)
n.799A>G
6g.161973343T>GCA151579783PRKNc.571A>C (n.571A>C)
c.452A>C (n.452A>C)
c.693A>C (p.Thr231=)
c.688A>C
n.711A>C
n.329A>C
n.800A>C
c.120A>C (p.Thr40=)
c.246A>C (p.Thr82=)
c.609A>C (p.Thr203=)
c.456A>C (p.Thr152=)
c.690A>C (p.Thr230=)
c.807A>C (p.Thr269=)
c.453A>C (p.Thr151=)
n.799A>C
 dbSNP gnomAD v3 gnomAD v4
6g.161973343T=CA1677783349PRKNc.571A= (n.571A=)
c.452A= (n.452A=)
c.693A= (p.Thr231=)
c.688A=
n.711A=
n.329A=
n.800A=
c.120A= (p.Thr40=)
c.246A= (p.Thr82=)
c.609A= (p.Thr203=)
c.456A= (p.Thr152=)
c.690A= (p.Thr230=)
c.807A= (p.Thr269=)
c.453A= (p.Thr151=)
n.799A=
6g.161973344G>ACA366466870PRKNc.570C>T (n.570C>T)
c.451C>T (n.451C>T)
c.692C>T (p.Thr231Ile)
c.687C>T
n.710C>T
n.328C>T
n.799C>T
c.119C>T (p.Thr40Ile)
c.245C>T (p.Thr82Ile)
c.608C>T (p.Thr203Ile)
c.455C>T (p.Thr152Ile)
c.689C>T (p.Thr230Ile)
c.806C>T (p.Thr269Ile)
c.452C>T (p.Thr151Ile)
n.798C>T
6g.161973344G>CCA4090273PRKNc.570C>G (n.570C>G)
c.451C>G (n.451C>G)
c.692C>G (p.Thr231Arg)
c.687C>G
n.710C>G
n.328C>G
n.799C>G
c.119C>G (p.Thr40Arg)
c.245C>G (p.Thr82Arg)
c.608C>G (p.Thr203Arg)
c.455C>G (p.Thr152Arg)
c.689C>G (p.Thr230Arg)
c.806C>G (p.Thr269Arg)
c.452C>G (p.Thr151Arg)
n.798C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973344G=CA1677783350PRKNc.570C= (n.570C=)
c.451C= (n.451C=)
c.692C= (p.Thr231=)
c.687C=
n.710C=
n.328C=
n.799C=
c.119C= (p.Thr40=)
c.245C= (p.Thr82=)
c.608C= (p.Thr203=)
c.455C= (p.Thr152=)
c.689C= (p.Thr230=)
c.806C= (p.Thr269=)
c.452C= (p.Thr151=)
n.798C=
6g.161973344G>TCA151579784PRKNc.570C>A (n.570C>A)
c.451C>A (n.451C>A)
c.692C>A (p.Thr231Lys)
c.687C>A
n.710C>A
n.328C>A
n.799C>A
c.119C>A (p.Thr40Lys)
c.245C>A (p.Thr82Lys)
c.608C>A (p.Thr203Lys)
c.455C>A (p.Thr152Lys)
c.689C>A (p.Thr230Lys)
c.806C>A (p.Thr269Lys)
c.452C>A (p.Thr151Lys)
n.798C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973345T>ACA366466871PRKNc.569A>T (n.569A>T)
c.450A>T (n.450A>T)
c.691A>T (p.Thr231Ser)
c.686A>T
n.709A>T
n.327A>T
n.798A>T
c.118A>T (p.Thr40Ser)
c.244A>T (p.Thr82Ser)
c.607A>T (p.Thr203Ser)
c.454A>T (p.Thr152Ser)
c.688A>T (p.Thr230Ser)
c.805A>T (p.Thr269Ser)
c.451A>T (p.Thr151Ser)
n.797A>T
6g.161973345T>CCA366466872PRKNc.569A>G (n.569A>G)
c.450A>G (n.450A>G)
c.691A>G (p.Thr231Ala)
c.686A>G
n.709A>G
n.327A>G
n.798A>G
c.118A>G (p.Thr40Ala)
c.244A>G (p.Thr82Ala)
c.607A>G (p.Thr203Ala)
c.454A>G (p.Thr152Ala)
c.688A>G (p.Thr230Ala)
c.805A>G (p.Thr269Ala)
c.451A>G (p.Thr151Ala)
n.797A>G
6g.161973345T>GCA366466873PRKNc.569A>C (n.569A>C)
c.450A>C (n.450A>C)
c.691A>C (p.Thr231Pro)
c.686A>C
n.709A>C
n.327A>C
n.798A>C
c.118A>C (p.Thr40Pro)
c.244A>C (p.Thr82Pro)
c.607A>C (p.Thr203Pro)
c.454A>C (p.Thr152Pro)
c.688A>C (p.Thr230Pro)
c.805A>C (p.Thr269Pro)
c.451A>C (p.Thr151Pro)
n.797A>C
6g.161973346T>ACA453047754PRKNc.568A>T (n.568A>T)
c.449A>T (n.449A>T)
c.690A>T (p.Ala230=)
c.685A>T
n.708A>T
n.326A>T
n.797A>T
c.117A>T (p.Ala39=)
c.243A>T (p.Ala81=)
c.606A>T (p.Ala202=)
c.453A>T (p.Ala151=)
c.687A>T (p.Ala229=)
c.804A>T (p.Ala268=)
c.450A>T (p.Ala150=)
n.796A>T
6g.161973346T>CCA453047755PRKNc.568A>G (n.568A>G)
c.449A>G (n.449A>G)
c.690A>G (p.Ala230=)
c.685A>G
n.708A>G
n.326A>G
n.797A>G
c.117A>G (p.Ala39=)
c.243A>G (p.Ala81=)
c.606A>G (p.Ala202=)
c.453A>G (p.Ala151=)
c.687A>G (p.Ala229=)
c.804A>G (p.Ala268=)
c.450A>G (p.Ala150=)
n.796A>G
6g.161973346T>GCA453047756PRKNc.568A>C (n.568A>C)
c.449A>C (n.449A>C)
c.690A>C (p.Ala230=)
c.685A>C
n.708A>C
n.326A>C
n.797A>C
c.117A>C (p.Ala39=)
c.243A>C (p.Ala81=)
c.606A>C (p.Ala202=)
c.453A>C (p.Ala151=)
c.687A>C (p.Ala229=)
c.804A>C (p.Ala268=)
c.450A>C (p.Ala150=)
n.796A>C
 gnomAD v4
6g.161973347G>ACA4090274PRKNc.567C>T (n.567C>T)
c.448C>T (n.448C>T)
c.689C>T (p.Ala230Val)
c.684C>T
n.707C>T
n.325C>T
n.796C>T
c.116C>T (p.Ala39Val)
c.242C>T (p.Ala81Val)
c.605C>T (p.Ala202Val)
c.452C>T (p.Ala151Val)
c.686C>T (p.Ala229Val)
c.803C>T (p.Ala268Val)
c.449C>T (p.Ala150Val)
n.795C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973347G>CCA366466874PRKNc.567C>G (n.567C>G)
c.448C>G (n.448C>G)
c.689C>G (p.Ala230Gly)
c.684C>G
n.707C>G
n.325C>G
n.796C>G
c.116C>G (p.Ala39Gly)
c.242C>G (p.Ala81Gly)
c.605C>G (p.Ala202Gly)
c.452C>G (p.Ala151Gly)
c.686C>G (p.Ala229Gly)
c.803C>G (p.Ala268Gly)
c.449C>G (p.Ala150Gly)
n.795C>G
6g.161973347G=CA1677783351PRKNc.567C= (n.567C=)
c.448C= (n.448C=)
c.689C= (p.Ala230=)
c.684C=
n.707C=
n.325C=
n.796C=
c.116C= (p.Ala39=)
c.242C= (p.Ala81=)
c.605C= (p.Ala202=)
c.452C= (p.Ala151=)
c.686C= (p.Ala229=)
c.803C= (p.Ala268=)
c.449C= (p.Ala150=)
n.795C=
6g.161973347G>TCA366466875PRKNc.567C>A (n.567C>A)
c.448C>A (n.448C>A)
c.689C>A (p.Ala230Glu)
c.684C>A
n.707C>A
n.325C>A
n.796C>A
c.116C>A (p.Ala39Glu)
c.242C>A (p.Ala81Glu)
c.605C>A (p.Ala202Glu)
c.452C>A (p.Ala151Glu)
c.686C>A (p.Ala229Glu)
c.803C>A (p.Ala268Glu)
c.449C>A (p.Ala150Glu)
n.795C>A
 ClinVar dbSNP
6g.161973348C>ACA366466876PRKNc.566G>T (n.566G>T)
c.447G>T (n.447G>T)
c.688G>T (p.Ala230Ser)
c.683G>T
n.706G>T
n.324G>T
n.795G>T
c.115G>T (p.Ala39Ser)
c.241G>T (p.Ala81Ser)
c.604G>T (p.Ala202Ser)
c.451G>T (p.Ala151Ser)
c.685G>T (p.Ala229Ser)
c.802G>T (p.Ala268Ser)
c.448G>T (p.Ala150Ser)
n.794G>T
6g.161973348C=CA1677783352PRKNc.566G= (n.566G=)
c.447G= (n.447G=)
c.688G= (p.Ala230=)
c.683G=
n.706G=
n.324G=
n.795G=
c.115G= (p.Ala39=)
c.241G= (p.Ala81=)
c.604G= (p.Ala202=)
c.451G= (p.Ala151=)
c.685G= (p.Ala229=)
c.802G= (p.Ala268=)
c.448G= (p.Ala150=)
n.794G=
6g.161973348C>GCA366466877PRKNc.566G>C (n.566G>C)
c.447G>C (n.447G>C)
c.688G>C (p.Ala230Pro)
c.683G>C
n.706G>C
n.324G>C
n.795G>C
c.115G>C (p.Ala39Pro)
c.241G>C (p.Ala81Pro)
c.604G>C (p.Ala202Pro)
c.451G>C (p.Ala151Pro)
c.685G>C (p.Ala229Pro)
c.802G>C (p.Ala268Pro)
c.448G>C (p.Ala150Pro)
n.794G>C
 gnomAD v4
6g.161973348C>TCA366466878PRKNc.566G>A (n.566G>A)
c.447G>A (n.447G>A)
c.688G>A (p.Ala230Thr)
c.683G>A
n.706G>A
n.324G>A
n.795G>A
c.115G>A (p.Ala39Thr)
c.241G>A (p.Ala81Thr)
c.604G>A (p.Ala202Thr)
c.451G>A (p.Ala151Thr)
c.685G>A (p.Ala229Thr)
c.802G>A (p.Ala268Thr)
c.448G>A (p.Ala150Thr)
n.794G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.161973349G>ACA4090275PRKNc.565C>T (n.565C>T)
c.446C>T (n.446C>T)
c.687C>T (p.Ile229=)
c.682C>T
n.705C>T
n.323C>T
n.794C>T
c.114C>T (p.Ile38=)
c.240C>T (p.Ile80=)
c.603C>T (p.Ile201=)
c.450C>T (p.Ile150=)
c.684C>T (p.Ile228=)
c.801C>T (p.Ile267=)
c.447C>T (p.Ile149=)
n.793C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.161973349G>CCA366466879PRKNc.565C>G (n.565C>G)
c.446C>G (n.446C>G)
c.687C>G (p.Ile229Met)
c.682C>G
n.705C>G
n.323C>G
n.794C>G
c.114C>G (p.Ile38Met)
c.240C>G (p.Ile80Met)
c.603C>G (p.Ile201Met)
c.450C>G (p.Ile150Met)
c.684C>G (p.Ile228Met)
c.801C>G (p.Ile267Met)
c.447C>G (p.Ile149Met)
n.793C>G
 gnomAD v4
6g.161973349G=CA1677783353PRKNc.565C= (n.565C=)
c.446C= (n.446C=)
c.687C= (p.Ile229=)
c.682C=
n.705C=
n.323C=
n.794C=
c.114C= (p.Ile38=)
c.240C= (p.Ile80=)
c.603C= (p.Ile201=)
c.450C= (p.Ile150=)
c.684C= (p.Ile228=)
c.801C= (p.Ile267=)
c.447C= (p.Ile149=)
n.793C=
6g.161973349G>TCA453047757PRKNc.565C>A (n.565C>A)
c.446C>A (n.446C>A)
c.687C>A (p.Ile229=)
c.682C>A
n.705C>A
n.323C>A
n.794C>A
c.114C>A (p.Ile38=)
c.240C>A (p.Ile80=)
c.603C>A (p.Ile201=)
c.450C>A (p.Ile150=)
c.684C>A (p.Ile228=)
c.801C>A (p.Ile267=)
c.447C>A (p.Ile149=)
n.793C>A
6g.161973349_161973350insTCTGCCCACA2548763698PRKNc.564_565insTGGGCAGA (n.564_565insTGGGCAGA)
c.445_446insTGGGCAGA (n.445_446insTGGGCAGA)
c.686_687insTGGGCAGA (p.Ala230GlyfsTer32)
c.681_682insTGGGCAGA
n.704_705insTGGGCAGA
n.322_323insTGGGCAGA
n.793_794insTGGGCAGA
c.113_114insTGGGCAGA (p.Ala39GlyfsTer32)
c.239_240insTGGGCAGA (p.Ala81GlyfsTer32)
c.602_603insTGGGCAGA (p.Ala202GlyfsTer32)
c.449_450insTGGGCAGA (p.Ala151GlyfsTer32)
c.683_684insTGGGCAGA (p.Ala229GlyfsTer32)
c.686_687insTGGGCAGA (p.Ala230GlyfsTer?)
c.686_687insTGGGCAGA (p.Ala230GlyfsTer26)
c.800_801insTGGGCAGA (p.Ala268GlyfsTer32)
c.446_447insTGGGCAGA (p.Ala150GlyfsTer32)
n.792_793insTGGGCAGA
6g.161973350A=CA1677783354PRKNc.564T= (n.564T=)
c.445T= (n.445T=)
c.686T= (p.Ile229=)
c.681T=
n.704T=
n.322T=
n.793T=
c.113T= (p.Ile38=)
c.239T= (p.Ile80=)
c.602T= (p.Ile201=)
c.449T= (p.Ile150=)
c.683T= (p.Ile228=)
c.800T= (p.Ile267=)
c.446T= (p.Ile149=)
n.792T=
6g.161973350A>CCA366466882PRKNc.564T>G (n.564T>G)
c.445T>G (n.445T>G)
c.686T>G (p.Ile229Ser)
c.681T>G
n.704T>G
n.322T>G
n.793T>G
c.113T>G (p.Ile38Ser)
c.239T>G (p.Ile80Ser)
c.602T>G (p.Ile201Ser)
c.449T>G (p.Ile150Ser)
c.683T>G (p.Ile228Ser)
c.800T>G (p.Ile267Ser)
c.446T>G (p.Ile149Ser)
n.792T>G
6g.161973350A>GCA366466880PRKNc.564T>C (n.564T>C)
c.445T>C (n.445T>C)
c.686T>C (p.Ile229Thr)
c.681T>C
n.704T>C
n.322T>C
n.793T>C
c.113T>C (p.Ile38Thr)
c.239T>C (p.Ile80Thr)
c.602T>C (p.Ile201Thr)
c.449T>C (p.Ile150Thr)
c.683T>C (p.Ile228Thr)
c.800T>C (p.Ile267Thr)
c.446T>C (p.Ile149Thr)
n.792T>C
 ClinVar dbSNP gnomAD v4
6g.161973350A>TCA366466881PRKNc.564T>A (n.564T>A)
c.445T>A (n.445T>A)
c.686T>A (p.Ile229Asn)
c.681T>A
n.704T>A
n.322T>A
n.793T>A
c.113T>A (p.Ile38Asn)
c.239T>A (p.Ile80Asn)
c.602T>A (p.Ile201Asn)
c.449T>A (p.Ile150Asn)
c.683T>A (p.Ile228Asn)
c.800T>A (p.Ile267Asn)
c.446T>A (p.Ile149Asn)
n.792T>A
6g.161973351T>ACA366466883PRKNc.563A>T (n.563A>T)
c.444A>T (n.444A>T)
c.685A>T (p.Ile229Phe)
c.680A>T
n.703A>T
n.321A>T
n.792A>T
c.112A>T (p.Ile38Phe)
c.238A>T (p.Ile80Phe)
c.601A>T (p.Ile201Phe)
c.448A>T (p.Ile150Phe)
c.682A>T (p.Ile228Phe)
c.799A>T (p.Ile267Phe)
c.445A>T (p.Ile149Phe)
n.791A>T
 COSMIC COSMIC
6g.161973351T>CCA366466884PRKNc.563A>G (n.563A>G)
c.444A>G (n.444A>G)
c.685A>G (p.Ile229Val)
c.680A>G
n.703A>G
n.321A>G
n.792A>G
c.112A>G (p.Ile38Val)
c.238A>G (p.Ile80Val)
c.601A>G (p.Ile201Val)
c.448A>G (p.Ile150Val)
c.682A>G (p.Ile228Val)
c.799A>G (p.Ile267Val)
c.445A>G (p.Ile149Val)
n.791A>G
6g.161973351T>GCA366466885PRKNc.563A>C (n.563A>C)
c.444A>C (n.444A>C)
c.685A>C (p.Ile229Leu)
c.680A>C
n.703A>C
n.321A>C
n.792A>C
c.112A>C (p.Ile38Leu)
c.238A>C (p.Ile80Leu)
c.601A>C (p.Ile201Leu)
c.448A>C (p.Ile150Leu)
c.682A>C (p.Ile228Leu)
c.799A>C (p.Ile267Leu)
c.445A>C (p.Ile149Leu)
n.791A>C
6g.161973352C>ACA453047758PRKNc.562G>T (n.562G>T)
c.443G>T (n.443G>T)
c.684G>T (p.Leu228=)
c.679G>T
n.702G>T
n.320G>T
n.791G>T
c.111G>T (p.Leu37=)
c.237G>T (p.Leu79=)
c.600G>T (p.Leu200=)
c.447G>T (p.Leu149=)
c.681G>T (p.Leu227=)
c.798G>T (p.Leu266=)
c.444G>T (p.Leu148=)
n.790G>T
6g.161973352C=CA1677783355PRKNc.562G= (n.562G=)
c.443G= (n.443G=)
c.684G= (p.Leu228=)
c.679G=
n.702G=
n.320G=
n.791G=
c.111G= (p.Leu37=)
c.237G= (p.Leu79=)
c.600G= (p.Leu200=)
c.447G= (p.Leu149=)
c.681G= (p.Leu227=)
c.798G= (p.Leu266=)
c.444G= (p.Leu148=)
n.790G=
6g.161973352C>GCA453047759PRKNc.562G>C (n.562G>C)
c.443G>C (n.443G>C)
c.684G>C (p.Leu228=)
c.679G>C
n.702G>C
n.320G>C
n.791G>C
c.111G>C (p.Leu37=)
c.237G>C (p.Leu79=)
c.600G>C (p.Leu200=)
c.447G>C (p.Leu149=)
c.681G>C (p.Leu227=)
c.798G>C (p.Leu266=)
c.444G>C (p.Leu148=)
n.790G>C
6g.161973352C>TCA453047760PRKNc.562G>A (n.562G>A)
c.443G>A (n.443G>A)
c.684G>A (p.Leu228=)
c.679G>A
n.702G>A
n.320G>A
n.791G>A
c.111G>A (p.Leu37=)
c.237G>A (p.Leu79=)
c.600G>A (p.Leu200=)
c.447G>A (p.Leu149=)
c.681G>A (p.Leu227=)
c.798G>A (p.Leu266=)
c.444G>A (p.Leu148=)
n.790G>A
 dbSNP gnomAD v4
6g.161973353A>CCA366466886PRKNc.561T>G (n.561T>G)
c.442T>G (n.442T>G)
c.683T>G (p.Leu228Arg)
c.678T>G
n.701T>G
n.319T>G
n.790T>G
c.110T>G (p.Leu37Arg)
c.236T>G (p.Leu79Arg)
c.599T>G (p.Leu200Arg)
c.446T>G (p.Leu149Arg)
c.680T>G (p.Leu227Arg)
c.797T>G (p.Leu266Arg)
c.443T>G (p.Leu148Arg)
n.789T>G
6g.161973353A>GCA366466887PRKNc.561T>C (n.561T>C)
c.442T>C (n.442T>C)
c.683T>C (p.Leu228Pro)
c.678T>C
n.701T>C
n.319T>C
n.790T>C
c.110T>C (p.Leu37Pro)
c.236T>C (p.Leu79Pro)
c.599T>C (p.Leu200Pro)
c.446T>C (p.Leu149Pro)
c.680T>C (p.Leu227Pro)
c.797T>C (p.Leu266Pro)
c.443T>C (p.Leu148Pro)
n.789T>C
 gnomAD v4
6g.161973353A>TCA366466888PRKNc.561T>A (n.561T>A)
c.442T>A (n.442T>A)
c.683T>A (p.Leu228Gln)
c.678T>A
n.701T>A
n.319T>A
n.790T>A
c.110T>A (p.Leu37Gln)
c.236T>A (p.Leu79Gln)
c.599T>A (p.Leu200Gln)
c.446T>A (p.Leu149Gln)
c.680T>A (p.Leu227Gln)
c.797T>A (p.Leu266Gln)
c.443T>A (p.Leu148Gln)
n.789T>A
6g.161973354G>ACA453047761PRKNc.560C>T (n.560C>T)
c.441C>T (n.441C>T)
c.682C>T (p.Leu228=)
c.677C>T
n.700C>T
n.318C>T
n.789C>T
c.109C>T (p.Leu37=)
c.235C>T (p.Leu79=)
c.598C>T (p.Leu200=)
c.445C>T (p.Leu149=)
c.679C>T (p.Leu227=)
c.796C>T (p.Leu266=)
c.442C>T (p.Leu148=)
n.788C>T
6g.161973354G>CCA366466889PRKNc.560C>G (n.560C>G)
c.441C>G (n.441C>G)
c.682C>G (p.Leu228Val)
c.677C>G
n.700C>G
n.318C>G
n.789C>G
c.109C>G (p.Leu37Val)
c.235C>G (p.Leu79Val)
c.598C>G (p.Leu200Val)
c.445C>G (p.Leu149Val)
c.679C>G (p.Leu227Val)
c.796C>G (p.Leu266Val)
c.442C>G (p.Leu148Val)
n.788C>G
6g.161973354G>TCA366466890PRKNc.560C>A (n.560C>A)
c.441C>A (n.441C>A)
c.682C>A (p.Leu228Met)
c.677C>A
n.700C>A
n.318C>A
n.789C>A
c.109C>A (p.Leu37Met)
c.235C>A (p.Leu79Met)
c.598C>A (p.Leu200Met)
c.445C>A (p.Leu149Met)
c.679C>A (p.Leu227Met)
c.796C>A (p.Leu266Met)
c.442C>A (p.Leu148Met)
n.788C>A
6g.161973355G>ACA453047762PRKNc.559C>T (n.559C>T)
c.440C>T (n.440C>T)
c.681C>T (p.His227=)
c.676C>T
n.699C>T
n.317C>T
n.788C>T
c.108C>T (p.His36=)
c.234C>T (p.His78=)
c.597C>T (p.His199=)
c.444C>T (p.His148=)
c.678C>T (p.His226=)
c.795C>T (p.His265=)
c.441C>T (p.His147=)
n.787C>T
 dbSNP gnomAD v4
6g.161973355G>CCA366466891PRKNc.559C>G (n.559C>G)
c.440C>G (n.440C>G)
c.681C>G (p.His227Gln)
c.676C>G
n.699C>G
n.317C>G
n.788C>G
c.108C>G (p.His36Gln)
c.234C>G (p.His78Gln)
c.597C>G (p.His199Gln)
c.444C>G (p.His148Gln)
c.678C>G (p.His226Gln)
c.795C>G (p.His265Gln)
c.441C>G (p.His147Gln)
n.787C>G
6g.161973355G>TCA366466892PRKNc.559C>A (n.559C>A)
c.440C>A (n.440C>A)
c.681C>A (p.His227Gln)
c.676C>A
n.699C>A
n.317C>A
n.788C>A
c.108C>A (p.His36Gln)
c.234C>A (p.His78Gln)
c.597C>A (p.His199Gln)
c.444C>A (p.His148Gln)
c.678C>A (p.His226Gln)
c.795C>A (p.His265Gln)
c.441C>A (p.His147Gln)
n.787C>A
 gnomAD v4
6g.161973356T>ACA366466895PRKNc.558A>T (n.558A>T)
c.439A>T (n.439A>T)
c.680A>T (p.His227Leu)
c.675A>T
n.698A>T
n.316A>T
n.787A>T
c.107A>T (p.His36Leu)
c.233A>T (p.His78Leu)
c.596A>T (p.His199Leu)
c.443A>T (p.His148Leu)
c.677A>T (p.His226Leu)
c.794A>T (p.His265Leu)
c.440A>T (p.His147Leu)
n.786A>T
6g.161973356T>CCA366466894PRKNc.558A>G (n.558A>G)
c.439A>G (n.439A>G)
c.680A>G (p.His227Arg)
c.675A>G
n.698A>G
n.316A>G
n.787A>G
c.107A>G (p.His36Arg)
c.233A>G (p.His78Arg)
c.596A>G (p.His199Arg)
c.443A>G (p.His148Arg)
c.677A>G (p.His226Arg)
c.794A>G (p.His265Arg)
c.440A>G (p.His147Arg)
n.786A>G
6g.161973356T>GCA366466893PRKNc.558A>C (n.558A>C)
c.439A>C (n.439A>C)
c.680A>C (p.His227Pro)
c.675A>C
n.698A>C
n.316A>C
n.787A>C
c.107A>C (p.His36Pro)
c.233A>C (p.His78Pro)
c.596A>C (p.His199Pro)
c.443A>C (p.His148Pro)
c.677A>C (p.His226Pro)
c.794A>C (p.His265Pro)
c.440A>C (p.His147Pro)
n.786A>C
6g.161973357G>ACA366466896PRKNc.557C>T (n.557C>T)
c.438C>T (n.438C>T)
c.679C>T (p.His227Tyr)
c.674C>T
n.697C>T
n.315C>T
n.786C>T
c.106C>T (p.His36Tyr)
c.232C>T (p.His78Tyr)
c.595C>T (p.His199Tyr)
c.442C>T (p.His148Tyr)
c.676C>T (p.His226Tyr)
c.793C>T (p.His265Tyr)
c.439C>T (p.His147Tyr)
n.785C>T
 dbSNP
6g.161973357G>CCA366466897PRKNc.557C>G (n.557C>G)
c.438C>G (n.438C>G)
c.679C>G (p.His227Asp)
c.674C>G
n.697C>G
n.315C>G
n.786C>G
c.106C>G (p.His36Asp)
c.232C>G (p.His78Asp)
c.595C>G (p.His199Asp)
c.442C>G (p.His148Asp)
c.676C>G (p.His226Asp)
c.793C>G (p.His265Asp)
c.439C>G (p.His147Asp)
n.785C>G
6g.161973357G>TCA366466898PRKNc.557C>A (n.557C>A)
c.438C>A (n.438C>A)
c.679C>A (p.His227Asn)
c.674C>A
n.697C>A
n.315C>A
n.786C>A
c.106C>A (p.His36Asn)
c.232C>A (p.His78Asn)
c.595C>A (p.His199Asn)
c.442C>A (p.His148Asn)
c.676C>A (p.His226Asn)
c.793C>A (p.His265Asn)
c.439C>A (p.His147Asn)
n.785C>A
6g.161973358C>ACA366466899PRKNc.556G>T (n.556G>T)
c.437G>T (n.437G>T)
c.678G>T (p.Leu226Phe)
c.673G>T
n.696G>T
n.314G>T
n.785G>T
c.105G>T (p.Leu35Phe)
c.231G>T (p.Leu77Phe)
c.594G>T (p.Leu198Phe)
c.441G>T (p.Leu147Phe)
c.675G>T (p.Leu225Phe)
c.792G>T (p.Leu264Phe)
c.438G>T (p.Leu146Phe)
n.784G>T
6g.161973358C>GCA366466900PRKNc.556G>C (n.556G>C)
c.437G>C (n.437G>C)
c.678G>C (p.Leu226Phe)
c.673G>C
n.696G>C
n.314G>C
n.785G>C
c.105G>C (p.Leu35Phe)
c.231G>C (p.Leu77Phe)
c.594G>C (p.Leu198Phe)
c.441G>C (p.Leu147Phe)
c.675G>C (p.Leu225Phe)
c.792G>C (p.Leu264Phe)
c.438G>C (p.Leu146Phe)
n.784G>C
6g.161973358C>TCA453047763PRKNc.556G>A (n.556G>A)
c.437G>A (n.437G>A)
c.678G>A (p.Leu226=)
c.673G>A
n.696G>A
n.314G>A
n.785G>A
c.105G>A (p.Leu35=)
c.231G>A (p.Leu77=)
c.594G>A (p.Leu198=)
c.441G>A (p.Leu147=)
c.675G>A (p.Leu225=)
c.792G>A (p.Leu264=)
c.438G>A (p.Leu146=)
n.784G>A
 gnomAD v4
6g.161973359A>CCA366466901PRKNc.555T>G (n.555T>G)
c.436T>G (n.436T>G)
c.677T>G (p.Leu226Trp)
c.672T>G
n.695T>G
n.313T>G
n.784T>G
c.104T>G (p.Leu35Trp)
c.230T>G (p.Leu77Trp)
c.593T>G (p.Leu198Trp)
c.440T>G (p.Leu147Trp)
c.674T>G (p.Leu225Trp)
c.791T>G (p.Leu264Trp)
c.437T>G (p.Leu146Trp)
n.783T>G
6g.161973359A>GCA366466902PRKNc.555T>C (n.555T>C)
c.436T>C (n.436T>C)
c.677T>C (p.Leu226Ser)
c.672T>C
n.695T>C
n.313T>C
n.784T>C
c.104T>C (p.Leu35Ser)
c.230T>C (p.Leu77Ser)
c.593T>C (p.Leu198Ser)
c.440T>C (p.Leu147Ser)
c.674T>C (p.Leu225Ser)
c.791T>C (p.Leu264Ser)
c.437T>C (p.Leu146Ser)
n.783T>C
6g.161973359A>TCA366466903PRKNc.555T>A (n.555T>A)
c.436T>A (n.436T>A)
c.677T>A (p.Leu226Ter)
c.672T>A
n.695T>A
n.313T>A
n.784T>A
c.104T>A (p.Leu35Ter)
c.230T>A (p.Leu77Ter)
c.593T>A (p.Leu198Ter)
c.440T>A (p.Leu147Ter)
c.674T>A (p.Leu225Ter)
c.791T>A (p.Leu264Ter)
c.437T>A (p.Leu146Ter)
n.783T>A
6g.161973361delCA2681114563PRKNc.555del (n.555del)
c.436del (n.436del)
c.677del (p.Leu226CysfsTer3)
c.672del
n.695del
n.313del
n.784del
c.104del (p.Leu35CysfsTer3)
c.230del (p.Leu77CysfsTer3)
c.593del (p.Leu198CysfsTer3)
c.440del (p.Leu147CysfsTer3)
c.674del (p.Leu225CysfsTer3)
c.791del (p.Leu264CysfsTer3)
c.437del (p.Leu146CysfsTer3)
n.783del
 gnomAD v4
6g.161973360A>CCA366466904PRKNc.554T>G (n.554T>G)
c.435T>G (n.435T>G)
c.676T>G (p.Leu226Val)
c.671T>G
n.694T>G
n.312T>G
n.783T>G
c.103T>G (p.Leu35Val)
c.229T>G (p.Leu77Val)
c.592T>G (p.Leu198Val)
c.439T>G (p.Leu147Val)
c.673T>G (p.Leu225Val)
c.790T>G (p.Leu264Val)
c.436T>G (p.Leu146Val)
n.782T>G
6g.161973360A>GCA453047764PRKNc.554T>C (n.554T>C)
c.435T>C (n.435T>C)
c.676T>C (p.Leu226=)
c.671T>C
n.694T>C
n.312T>C
n.783T>C
c.103T>C (p.Leu35=)
c.229T>C (p.Leu77=)
c.592T>C (p.Leu198=)
c.439T>C (p.Leu147=)
c.673T>C (p.Leu225=)
c.790T>C (p.Leu264=)
c.436T>C (p.Leu146=)
n.782T>C
6g.161973360A>TCA366466905PRKNc.554T>A (n.554T>A)
c.435T>A (n.435T>A)
c.676T>A (p.Leu226Met)
c.671T>A
n.694T>A
n.312T>A
n.783T>A
c.103T>A (p.Leu35Met)
c.229T>A (p.Leu77Met)
c.592T>A (p.Leu198Met)
c.439T>A (p.Leu147Met)
c.673T>A (p.Leu225Met)
c.790T>A (p.Leu264Met)
c.436T>A (p.Leu146Met)
n.782T>A
6g.161973361A>CCA453047765PRKNc.553T>G (n.553T>G)
c.434T>G (n.434T>G)
c.675T>G (p.Ala225=)
c.670T>G
n.693T>G
n.311T>G
n.782T>G
c.102T>G (p.Ala34=)
c.228T>G (p.Ala76=)
c.591T>G (p.Ala197=)
c.438T>G (p.Ala146=)
c.672T>G (p.Ala224=)
c.789T>G (p.Ala263=)
c.435T>G (p.Ala145=)
n.781T>G
6g.161973361A>GCA453047766PRKNc.553T>C (n.553T>C)
c.434T>C (n.434T>C)
c.675T>C (p.Ala225=)
c.670T>C
n.693T>C
n.311T>C
n.782T>C
c.102T>C (p.Ala34=)
c.228T>C (p.Ala76=)
c.591T>C (p.Ala197=)
c.438T>C (p.Ala146=)
c.672T>C (p.Ala224=)
c.789T>C (p.Ala263=)
c.435T>C (p.Ala145=)
n.781T>C
 gnomAD v4
6g.161973361A>TCA453047767PRKNc.553T>A (n.553T>A)
c.434T>A (n.434T>A)
c.675T>A (p.Ala225=)
c.670T>A
n.693T>A
n.311T>A
n.782T>A
c.102T>A (p.Ala34=)
c.228T>A (p.Ala76=)
c.591T>A (p.Ala197=)
c.438T>A (p.Ala146=)
c.672T>A (p.Ala224=)
c.789T>A (p.Ala263=)
c.435T>A (p.Ala145=)
n.781T>A
6g.161973362G>ACA366466906PRKNc.552C>T (n.552C>T)
c.433C>T (n.433C>T)
c.674C>T (p.Ala225Val)
c.669C>T
n.692C>T
n.310C>T
n.781C>T
c.101C>T (p.Ala34Val)
c.227C>T (p.Ala76Val)
c.590C>T (p.Ala197Val)
c.437C>T (p.Ala146Val)
c.671C>T (p.Ala224Val)
c.788C>T (p.Ala263Val)
c.434C>T (p.Ala145Val)
n.780C>T
 dbSNP gnomAD v2 gnomAD v4
6g.161973362G>CCA366466907PRKNc.552C>G (n.552C>G)
c.433C>G (n.433C>G)
c.674C>G (p.Ala225Gly)
c.669C>G
n.692C>G
n.310C>G
n.781C>G
c.101C>G (p.Ala34Gly)
c.227C>G (p.Ala76Gly)
c.590C>G (p.Ala197Gly)
c.437C>G (p.Ala146Gly)
c.671C>G (p.Ala224Gly)
c.788C>G (p.Ala263Gly)
c.434C>G (p.Ala145Gly)
n.780C>G
 ClinVar dbSNP gnomAD v4
6g.161973362G=CA1677783356PRKNc.552C= (n.552C=)
c.433C= (n.433C=)
c.674C= (p.Ala225=)
c.669C=
n.692C=
n.310C=
n.781C=
c.101C= (p.Ala34=)
c.227C= (p.Ala76=)
c.590C= (p.Ala197=)
c.437C= (p.Ala146=)
c.671C= (p.Ala224=)
c.788C= (p.Ala263=)
c.434C= (p.Ala145=)
n.780C=
6g.161973362G>TCA366466908PRKNc.552C>A (n.552C>A)
c.433C>A (n.433C>A)
c.674C>A (p.Ala225Asp)
c.669C>A
n.692C>A
n.310C>A
n.781C>A
c.101C>A (p.Ala34Asp)
c.227C>A (p.Ala76Asp)
c.590C>A (p.Ala197Asp)
c.437C>A (p.Ala146Asp)
c.671C>A (p.Ala224Asp)
c.788C>A (p.Ala263Asp)
c.434C>A (p.Ala145Asp)
n.780C>A
6g.161973362_161973363delinsGCCA1677783357PRKNc.551_552delinsGC (n.551_552delinsGC)
c.432_433delinsGC (n.432_433delinsGC)
c.673_674delinsGC (p.Ala225=)
c.668_669delinsGC
n.691_692delinsGC
n.309_310delinsGC
n.780_781delinsGC
c.100_101delinsGC (p.Ala34=)
c.226_227delinsGC (p.Ala76=)
c.589_590delinsGC (p.Ala197=)
c.436_437delinsGC (p.Ala146=)
c.670_671delinsGC (p.Ala224=)
c.787_788delinsGC (p.Ala263=)
c.433_434delinsGC (p.Ala145=)
n.779_780delinsGC
6g.161973363delCA1677783358PRKNc.551del (n.551del)
c.432del (n.432del)
c.673del (p.Ala225LeufsTer4)
c.668del
n.691del
n.309del
n.780del
c.100del (p.Ala34LeufsTer4)
c.226del (p.Ala76LeufsTer4)
c.589del (p.Ala197LeufsTer4)
c.436del (p.Ala146LeufsTer4)
c.670del (p.Ala224LeufsTer4)
c.787del (p.Ala263LeufsTer4)
c.433del (p.Ala145LeufsTer4)
n.779del
 dbSNP
6g.161973363C>ACA151579785PRKNc.551G>T (n.551G>T)
c.432G>T (n.432G>T)
c.673G>T (p.Ala225Ser)
c.668G>T
n.691G>T
n.309G>T
n.780G>T
c.100G>T (p.Ala34Ser)
c.226G>T (p.Ala76Ser)
c.589G>T (p.Ala197Ser)
c.436G>T (p.Ala146Ser)
c.670G>T (p.Ala224Ser)
c.787G>T (p.Ala263Ser)
c.433G>T (p.Ala145Ser)
n.779G>T
 dbSNP gnomAD v2 gnomAD v4
6g.161973363C=CA1677783359PRKNc.551G= (n.551G=)
c.432G= (n.432G=)
c.673G= (p.Ala225=)
c.668G=
n.691G=
n.309G=
n.780G=
c.100G= (p.Ala34=)
c.226G= (p.Ala76=)
c.589G= (p.Ala197=)
c.436G= (p.Ala146=)
c.670G= (p.Ala224=)
c.787G= (p.Ala263=)
c.433G= (p.Ala145=)
n.779G=
6g.161973363C>GCA366466910PRKNc.551G>C (n.551G>C)
c.432G>C (n.432G>C)
c.673G>C (p.Ala225Pro)
c.668G>C
n.691G>C
n.309G>C
n.780G>C
c.100G>C (p.Ala34Pro)
c.226G>C (p.Ala76Pro)
c.589G>C (p.Ala197Pro)
c.436G>C (p.Ala146Pro)
c.670G>C (p.Ala224Pro)
c.787G>C (p.Ala263Pro)
c.433G>C (p.Ala145Pro)
n.779G>C
6g.161973363C>TCA366466909PRKNc.551G>A (n.551G>A)
c.432G>A (n.432G>A)
c.673G>A (p.Ala225Thr)
c.668G>A
n.691G>A
n.309G>A
n.780G>A
c.100G>A (p.Ala34Thr)
c.226G>A (p.Ala76Thr)
c.589G>A (p.Ala197Thr)
c.436G>A (p.Ala146Thr)
c.670G>A (p.Ala224Thr)
c.787G>A (p.Ala263Thr)
c.433G>A (p.Ala145Thr)
n.779G>A
6g.161973364T>ACA453047770PRKNc.550A>T (n.550A>T)
c.431A>T (n.431A>T)
c.672A>T (p.Val224=)
c.667A>T
n.690A>T
n.308A>T
n.779A>T
c.99A>T (p.Val33=)
c.225A>T (p.Val75=)
c.588A>T (p.Val196=)
c.435A>T (p.Val145=)
c.669A>T (p.Val223=)
c.786A>T (p.Val262=)
c.432A>T (p.Val144=)
n.778A>T
6g.161973364T>CCA453047769PRKNc.550A>G (n.550A>G)
c.431A>G (n.431A>G)
c.672A>G (p.Val224=)
c.667A>G
n.690A>G
n.308A>G
n.779A>G
c.99A>G (p.Val33=)
c.225A>G (p.Val75=)
c.588A>G (p.Val196=)
c.435A>G (p.Val145=)
c.669A>G (p.Val223=)
c.786A>G (p.Val262=)
c.432A>G (p.Val144=)
n.778A>G
6g.161973364T>GCA453047768PRKNc.550A>C (n.550A>C)
c.431A>C (n.431A>C)
c.672A>C (p.Val224=)
c.667A>C
n.690A>C
n.308A>C
n.779A>C
c.99A>C (p.Val33=)
c.225A>C (p.Val75=)
c.588A>C (p.Val196=)
c.435A>C (p.Val145=)
c.669A>C (p.Val223=)
c.786A>C (p.Val262=)
c.432A>C (p.Val144=)
n.778A>C
6g.161973365A=CA1677783360PRKNc.549T= (n.549T=)
c.430T= (n.430T=)
c.671T= (p.Val224=)
c.666T=
n.689T=
n.307T=
n.778T=
c.98T= (p.Val33=)
c.224T= (p.Val75=)
c.587T= (p.Val196=)
c.434T= (p.Val145=)
c.668T= (p.Val223=)
c.785T= (p.Val262=)
c.431T= (p.Val144=)
n.777T=
6g.161973365A>CCA366466911PRKNc.549T>G (n.549T>G)
c.430T>G (n.430T>G)
c.671T>G (p.Val224Gly)
c.666T>G
n.689T>G
n.307T>G
n.778T>G
c.98T>G (p.Val33Gly)
c.224T>G (p.Val75Gly)
c.587T>G (p.Val196Gly)
c.434T>G (p.Val145Gly)
c.668T>G (p.Val223Gly)
c.785T>G (p.Val262Gly)
c.431T>G (p.Val144Gly)
n.777T>G
6g.161973365A>GCA4090276PRKNc.549T>C (n.549T>C)
c.430T>C (n.430T>C)
c.671T>C (p.Val224Ala)
c.666T>C
n.689T>C
n.307T>C
n.778T>C
c.98T>C (p.Val33Ala)
c.224T>C (p.Val75Ala)
c.587T>C (p.Val196Ala)
c.434T>C (p.Val145Ala)
c.668T>C (p.Val223Ala)
c.785T>C (p.Val262Ala)
c.431T>C (p.Val144Ala)
n.777T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973365A>TCA366466912PRKNc.549T>A (n.549T>A)
c.430T>A (n.430T>A)
c.671T>A (p.Val224Glu)
c.666T>A
n.689T>A
n.307T>A
n.778T>A
c.98T>A (p.Val33Glu)
c.224T>A (p.Val75Glu)
c.587T>A (p.Val196Glu)
c.434T>A (p.Val145Glu)
c.668T>A (p.Val223Glu)
c.785T>A (p.Val262Glu)
c.431T>A (p.Val144Glu)
n.777T>A
6g.161973366C>ACA366466913PRKNc.548G>T (n.548G>T)
c.429G>T (n.429G>T)
c.670G>T (p.Val224Leu)
c.665G>T
n.688G>T
n.306G>T
n.777G>T
c.97G>T (p.Val33Leu)
c.223G>T (p.Val75Leu)
c.586G>T (p.Val196Leu)
c.433G>T (p.Val145Leu)
c.667G>T (p.Val223Leu)
c.784G>T (p.Val262Leu)
c.430G>T (p.Val144Leu)
n.776G>T
6g.161973366C>GCA366466914PRKNc.548G>C (n.548G>C)
c.429G>C (n.429G>C)
c.670G>C (p.Val224Leu)
c.665G>C
n.688G>C
n.306G>C
n.777G>C
c.97G>C (p.Val33Leu)
c.223G>C (p.Val75Leu)
c.586G>C (p.Val196Leu)
c.433G>C (p.Val145Leu)
c.667G>C (p.Val223Leu)
c.784G>C (p.Val262Leu)
c.430G>C (p.Val144Leu)
n.776G>C
6g.161973366C>TCA366466915PRKNc.548G>A (n.548G>A)
c.429G>A (n.429G>A)
c.670G>A (p.Val224Ile)
c.665G>A
n.688G>A
n.306G>A
n.777G>A
c.97G>A (p.Val33Ile)
c.223G>A (p.Val75Ile)
c.586G>A (p.Val196Ile)
c.433G>A (p.Val145Ile)
c.667G>A (p.Val223Ile)
c.784G>A (p.Val262Ile)
c.430G>A (p.Val144Ile)
n.776G>A
 gnomAD v4
6g.161973367T>ACA453047771PRKNc.547A>T (n.547A>T)
c.428A>T (n.428A>T)
c.669A>T (p.Ser223=)
c.664A>T
n.687A>T
n.305A>T
n.776A>T
c.96A>T (p.Ser32=)
c.222A>T (p.Ser74=)
c.585A>T (p.Ser195=)
c.432A>T (p.Ser144=)
c.666A>T (p.Ser222=)
c.783A>T (p.Ser261=)
c.429A>T (p.Ser143=)
n.775A>T
6g.161973367T>CCA4090277PRKNc.547A>G (n.547A>G)
c.428A>G (n.428A>G)
c.669A>G (p.Ser223=)
c.664A>G
n.687A>G
n.305A>G
n.776A>G
c.96A>G (p.Ser32=)
c.222A>G (p.Ser74=)
c.585A>G (p.Ser195=)
c.432A>G (p.Ser144=)
c.666A>G (p.Ser222=)
c.783A>G (p.Ser261=)
c.429A>G (p.Ser143=)
n.775A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973367T>GCA453047772PRKNc.547A>C (n.547A>C)
c.428A>C (n.428A>C)
c.669A>C (p.Ser223=)
c.664A>C
n.687A>C
n.305A>C
n.776A>C
c.96A>C (p.Ser32=)
c.222A>C (p.Ser74=)
c.585A>C (p.Ser195=)
c.432A>C (p.Ser144=)
c.666A>C (p.Ser222=)
c.783A>C (p.Ser261=)
c.429A>C (p.Ser143=)
n.775A>C
6g.161973367T=CA1677783361PRKNc.547A= (n.547A=)
c.428A= (n.428A=)
c.669A= (p.Ser223=)
c.664A=
n.687A=
n.305A=
n.776A=
c.96A= (p.Ser32=)
c.222A= (p.Ser74=)
c.585A= (p.Ser195=)
c.432A= (p.Ser144=)
c.666A= (p.Ser222=)
c.783A= (p.Ser261=)
c.429A= (p.Ser143=)
n.775A=
6g.161973368G>ACA366466916PRKNc.546C>T (n.546C>T)
c.427C>T (n.427C>T)
c.668C>T (p.Ser223Leu)
c.663C>T
n.686C>T
n.304C>T
n.775C>T
c.95C>T (p.Ser32Leu)
c.221C>T (p.Ser74Leu)
c.584C>T (p.Ser195Leu)
c.431C>T (p.Ser144Leu)
c.665C>T (p.Ser222Leu)
c.782C>T (p.Ser261Leu)
c.428C>T (p.Ser143Leu)
n.774C>T
 gnomAD v4
6g.161973368G>CCA366466917PRKNc.546C>G (n.546C>G)
c.427C>G (n.427C>G)
c.668C>G (p.Ser223Ter)
c.663C>G
n.686C>G
n.304C>G
n.775C>G
c.95C>G (p.Ser32Ter)
c.221C>G (p.Ser74Ter)
c.584C>G (p.Ser195Ter)
c.431C>G (p.Ser144Ter)
c.665C>G (p.Ser222Ter)
c.782C>G (p.Ser261Ter)
c.428C>G (p.Ser143Ter)
n.774C>G
6g.161973368G>TCA366466918PRKNc.546C>A (n.546C>A)
c.427C>A (n.427C>A)
c.668C>A (p.Ser223Ter)
c.663C>A
n.686C>A
n.304C>A
n.775C>A
c.95C>A (p.Ser32Ter)
c.221C>A (p.Ser74Ter)
c.584C>A (p.Ser195Ter)
c.431C>A (p.Ser144Ter)
c.665C>A (p.Ser222Ter)
c.782C>A (p.Ser261Ter)
c.428C>A (p.Ser143Ter)
n.774C>A
6g.161973369A>CCA366466920PRKNc.545T>G (n.545T>G)
c.426T>G (n.426T>G)
c.667T>G (p.Ser223Ala)
c.662T>G
n.685T>G
n.303T>G
n.774T>G
c.94T>G (p.Ser32Ala)
c.220T>G (p.Ser74Ala)
c.583T>G (p.Ser195Ala)
c.430T>G (p.Ser144Ala)
c.664T>G (p.Ser222Ala)
c.781T>G (p.Ser261Ala)
c.427T>G (p.Ser143Ala)
n.773T>G
6g.161973369A>GCA366466921PRKNc.545T>C (n.545T>C)
c.426T>C (n.426T>C)
c.667T>C (p.Ser223Pro)
c.662T>C
n.685T>C
n.303T>C
n.774T>C
c.94T>C (p.Ser32Pro)
c.220T>C (p.Ser74Pro)
c.583T>C (p.Ser195Pro)
c.430T>C (p.Ser144Pro)
c.664T>C (p.Ser222Pro)
c.781T>C (p.Ser261Pro)
c.427T>C (p.Ser143Pro)
n.773T>C
6g.161973369A>TCA366466919PRKNc.545T>A (n.545T>A)
c.426T>A (n.426T>A)
c.667T>A (p.Ser223Thr)
c.662T>A
n.685T>A
n.303T>A
n.774T>A
c.94T>A (p.Ser32Thr)
c.220T>A (p.Ser74Thr)
c.583T>A (p.Ser195Thr)
c.430T>A (p.Ser144Thr)
c.664T>A (p.Ser222Thr)
c.781T>A (p.Ser261Thr)
c.427T>A (p.Ser143Thr)
n.773T>A
6g.161973370T>ACA453047773PRKNc.544A>T (n.544A>T)
c.425A>T (n.425A>T)
c.666A>T (p.Thr222=)
c.661A>T
n.684A>T
n.302A>T
n.773A>T
c.93A>T (p.Thr31=)
c.219A>T (p.Thr73=)
c.582A>T (p.Thr194=)
c.429A>T (p.Thr143=)
c.663A>T (p.Thr221=)
c.780A>T (p.Thr260=)
c.426A>T (p.Thr142=)
n.772A>T
 gnomAD v4
6g.161973370T>CCA453047774PRKNc.544A>G (n.544A>G)
c.425A>G (n.425A>G)
c.666A>G (p.Thr222=)
c.661A>G
n.684A>G
n.302A>G
n.773A>G
c.93A>G (p.Thr31=)
c.219A>G (p.Thr73=)
c.582A>G (p.Thr194=)
c.429A>G (p.Thr143=)
c.663A>G (p.Thr221=)
c.780A>G (p.Thr260=)
c.426A>G (p.Thr142=)
n.772A>G
 ClinVar dbSNP
6g.161973370T>GCA453047775PRKNc.544A>C (n.544A>C)
c.425A>C (n.425A>C)
c.666A>C (p.Thr222=)
c.661A>C
n.684A>C
n.302A>C
n.773A>C
c.93A>C (p.Thr31=)
c.219A>C (p.Thr73=)
c.582A>C (p.Thr194=)
c.429A>C (p.Thr143=)
c.663A>C (p.Thr221=)
c.780A>C (p.Thr260=)
c.426A>C (p.Thr142=)
n.772A>C
6g.161973370T=CA1677783362PRKNc.544A= (n.544A=)
c.425A= (n.425A=)
c.666A= (p.Thr222=)
c.661A=
n.684A=
n.302A=
n.773A=
c.93A= (p.Thr31=)
c.219A= (p.Thr73=)
c.582A= (p.Thr194=)
c.429A= (p.Thr143=)
c.663A= (p.Thr221=)
c.780A= (p.Thr260=)
c.426A= (p.Thr142=)
n.772A=
6g.161973371G>ACA366466924PRKNc.543C>T (n.543C>T)
c.424C>T (n.424C>T)
c.665C>T (p.Thr222Ile)
c.660C>T
n.683C>T
n.301C>T
n.772C>T
c.92C>T (p.Thr31Ile)
c.218C>T (p.Thr73Ile)
c.581C>T (p.Thr194Ile)
c.428C>T (p.Thr143Ile)
c.662C>T (p.Thr221Ile)
c.779C>T (p.Thr260Ile)
c.425C>T (p.Thr142Ile)
n.771C>T
 gnomAD v4
6g.161973371G>CCA366466922PRKNc.543C>G (n.543C>G)
c.424C>G (n.424C>G)
c.665C>G (p.Thr222Arg)
c.660C>G
n.683C>G
n.301C>G
n.772C>G
c.92C>G (p.Thr31Arg)
c.218C>G (p.Thr73Arg)
c.581C>G (p.Thr194Arg)
c.428C>G (p.Thr143Arg)
c.662C>G (p.Thr221Arg)
c.779C>G (p.Thr260Arg)
c.425C>G (p.Thr142Arg)
n.771C>G
6g.161973371G=CA1677783363PRKNc.543C= (n.543C=)
c.424C= (n.424C=)
c.665C= (p.Thr222=)
c.660C=
n.683C=
n.301C=
n.772C=
c.92C= (p.Thr31=)
c.218C= (p.Thr73=)
c.581C= (p.Thr194=)
c.428C= (p.Thr143=)
c.662C= (p.Thr221=)
c.779C= (p.Thr260=)
c.425C= (p.Thr142=)
n.771C=
6g.161973371G>TCA366466923PRKNc.543C>A (n.543C>A)
c.424C>A (n.424C>A)
c.665C>A (p.Thr222Lys)
c.660C>A
n.683C>A
n.301C>A
n.772C>A
c.92C>A (p.Thr31Lys)
c.218C>A (p.Thr73Lys)
c.581C>A (p.Thr194Lys)
c.428C>A (p.Thr143Lys)
c.662C>A (p.Thr221Lys)
c.779C>A (p.Thr260Lys)
c.425C>A (p.Thr142Lys)
n.771C>A
 dbSNP gnomAD v2 gnomAD v4
6g.161973372T>ACA366466925PRKNc.542A>T (n.542A>T)
c.423A>T (n.423A>T)
c.664A>T (p.Thr222Ser)
c.659A>T
n.682A>T
n.300A>T
n.771A>T
c.91A>T (p.Thr31Ser)
c.217A>T (p.Thr73Ser)
c.580A>T (p.Thr194Ser)
c.427A>T (p.Thr143Ser)
c.661A>T (p.Thr221Ser)
c.778A>T (p.Thr260Ser)
c.424A>T (p.Thr142Ser)
n.770A>T
6g.161973372T>CCA366466926PRKNc.542A>G (n.542A>G)
c.423A>G (n.423A>G)
c.664A>G (p.Thr222Ala)
c.659A>G
n.682A>G
n.300A>G
n.771A>G
c.91A>G (p.Thr31Ala)
c.217A>G (p.Thr73Ala)
c.580A>G (p.Thr194Ala)
c.427A>G (p.Thr143Ala)
c.661A>G (p.Thr221Ala)
c.778A>G (p.Thr260Ala)
c.424A>G (p.Thr142Ala)
n.770A>G
 COSMIC
6g.161973372T>GCA366466927PRKNc.542A>C (n.542A>C)
c.423A>C (n.423A>C)
c.664A>C (p.Thr222Pro)
c.659A>C
n.682A>C
n.300A>C
n.771A>C
c.91A>C (p.Thr31Pro)
c.217A>C (p.Thr73Pro)
c.580A>C (p.Thr194Pro)
c.427A>C (p.Thr143Pro)
c.661A>C (p.Thr221Pro)
c.778A>C (p.Thr260Pro)
c.424A>C (p.Thr142Pro)
n.770A>C
6g.161973373T>ACA366466928PRKNc.541A>T (n.541A>T)
c.422A>T (n.422A>T)
c.663A>T (p.Glu221Asp)
c.658A>T
n.681A>T
n.299A>T
n.770A>T
c.90A>T (p.Glu30Asp)
c.216A>T (p.Glu72Asp)
c.579A>T (p.Glu193Asp)
c.426A>T (p.Glu142Asp)
c.660A>T (p.Glu220Asp)
c.777A>T (p.Glu259Asp)
c.423A>T (p.Glu141Asp)
n.769A>T
6g.161973373T>CCA151579786PRKNc.541A>G (n.541A>G)
c.422A>G (n.422A>G)
c.663A>G (p.Glu221=)
c.658A>G
n.681A>G
n.299A>G
n.770A>G
c.90A>G (p.Glu30=)
c.216A>G (p.Glu72=)
c.579A>G (p.Glu193=)
c.426A>G (p.Glu142=)
c.660A>G (p.Glu220=)
c.777A>G (p.Glu259=)
c.423A>G (p.Glu141=)
n.769A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.161973373T>GCA366466929PRKNc.541A>C (n.541A>C)
c.422A>C (n.422A>C)
c.663A>C (p.Glu221Asp)
c.658A>C
n.681A>C
n.299A>C
n.770A>C
c.90A>C (p.Glu30Asp)
c.216A>C (p.Glu72Asp)
c.579A>C (p.Glu193Asp)
c.426A>C (p.Glu142Asp)
c.660A>C (p.Glu220Asp)
c.777A>C (p.Glu259Asp)
c.423A>C (p.Glu141Asp)
n.769A>C
6g.161973373T=CA1677783364PRKNc.541A= (n.541A=)
c.422A= (n.422A=)
c.663A= (p.Glu221=)
c.658A=
n.681A=
n.299A=
n.770A=
c.90A= (p.Glu30=)
c.216A= (p.Glu72=)
c.579A= (p.Glu193=)
c.426A= (p.Glu142=)
c.660A= (p.Glu220=)
c.777A= (p.Glu259=)
c.423A= (p.Glu141=)
n.769A=
6g.161973374T>ACA366466930PRKNc.540A>T (n.540A>T)
c.421A>T (n.421A>T)
c.662A>T (p.Glu221Val)
c.657A>T
n.680A>T
n.298A>T
n.769A>T
c.89A>T (p.Glu30Val)
c.215A>T (p.Glu72Val)
c.578A>T (p.Glu193Val)
c.425A>T (p.Glu142Val)
c.659A>T (p.Glu220Val)
c.776A>T (p.Glu259Val)
c.422A>T (p.Glu141Val)
n.768A>T
6g.161973374T>CCA366466931PRKNc.540A>G (n.540A>G)
c.421A>G (n.421A>G)
c.662A>G (p.Glu221Gly)
c.657A>G
n.680A>G
n.298A>G
n.769A>G
c.89A>G (p.Glu30Gly)
c.215A>G (p.Glu72Gly)
c.578A>G (p.Glu193Gly)
c.425A>G (p.Glu142Gly)
c.659A>G (p.Glu220Gly)
c.776A>G (p.Glu259Gly)
c.422A>G (p.Glu141Gly)
n.768A>G
6g.161973374T>GCA366466932PRKNc.540A>C (n.540A>C)
c.421A>C (n.421A>C)
c.662A>C (p.Glu221Ala)
c.657A>C
n.680A>C
n.298A>C
n.769A>C
c.89A>C (p.Glu30Ala)
c.215A>C (p.Glu72Ala)
c.578A>C (p.Glu193Ala)
c.425A>C (p.Glu142Ala)
c.659A>C (p.Glu220Ala)
c.776A>C (p.Glu259Ala)
c.422A>C (p.Glu141Ala)
n.768A>C
6g.161973375C>ACA366466933PRKNc.539G>T (n.539G>T)
c.420G>T (n.420G>T)
c.661G>T (p.Glu221Ter)
c.656G>T
n.679G>T
n.297G>T
n.768G>T
c.88G>T (p.Glu30Ter)
c.214G>T (p.Glu72Ter)
c.577G>T (p.Glu193Ter)
c.424G>T (p.Glu142Ter)
c.658G>T (p.Glu220Ter)
c.775G>T (p.Glu259Ter)
c.421G>T (p.Glu141Ter)
n.767G>T
6g.161973375C>GCA366466934PRKNc.539G>C (n.539G>C)
c.420G>C (n.420G>C)
c.661G>C (p.Glu221Gln)
c.656G>C
n.679G>C
n.297G>C
n.768G>C
c.88G>C (p.Glu30Gln)
c.214G>C (p.Glu72Gln)
c.577G>C (p.Glu193Gln)
c.424G>C (p.Glu142Gln)
c.658G>C (p.Glu220Gln)
c.775G>C (p.Glu259Gln)
c.421G>C (p.Glu141Gln)
n.767G>C
6g.161973375C>TCA366466935PRKNc.539G>A (n.539G>A)
c.420G>A (n.420G>A)
c.661G>A (p.Glu221Lys)
c.656G>A
n.679G>A
n.297G>A
n.768G>A
c.88G>A (p.Glu30Lys)
c.214G>A (p.Glu72Lys)
c.577G>A (p.Glu193Lys)
c.424G>A (p.Glu142Lys)
c.658G>A (p.Glu220Lys)
c.775G>A (p.Glu259Lys)
c.421G>A (p.Glu141Lys)
n.767G>A
 COSMIC COSMIC
6g.161973376C>ACA366466936PRKNc.538G>T (n.538G>T)
c.419G>T (n.419G>T)
c.660G>T (p.Lys220Asn)
c.655G>T
n.678G>T
n.296G>T
n.767G>T
c.87G>T (p.Lys29Asn)
c.213G>T (p.Lys71Asn)
c.576G>T (p.Lys192Asn)
c.423G>T (p.Lys141Asn)
c.657G>T (p.Lys219Asn)
c.774G>T (p.Lys258Asn)
c.420G>T (p.Lys140Asn)
n.766G>T
6g.161973376C>GCA366466937PRKNc.538G>C (n.538G>C)
c.419G>C (n.419G>C)
c.660G>C (p.Lys220Asn)
c.655G>C
n.678G>C
n.296G>C
n.767G>C
c.87G>C (p.Lys29Asn)
c.213G>C (p.Lys71Asn)
c.576G>C (p.Lys192Asn)
c.423G>C (p.Lys141Asn)
c.657G>C (p.Lys219Asn)
c.774G>C (p.Lys258Asn)
c.420G>C (p.Lys140Asn)
n.766G>C
6g.161973376C>TCA453047776PRKNc.538G>A (n.538G>A)
c.419G>A (n.419G>A)
c.660G>A (p.Lys220=)
c.655G>A
n.678G>A
n.296G>A
n.767G>A
c.87G>A (p.Lys29=)
c.213G>A (p.Lys71=)
c.576G>A (p.Lys192=)
c.423G>A (p.Lys141=)
c.657G>A (p.Lys219=)
c.774G>A (p.Lys258=)
c.420G>A (p.Lys140=)
n.766G>A
 gnomAD v4
6g.161973377T>ACA366466938PRKNc.537A>T (n.537A>T)
c.418A>T (n.418A>T)
c.659A>T (p.Lys220Met)
c.654A>T
n.677A>T
n.295A>T
n.766A>T
c.86A>T (p.Lys29Met)
c.212A>T (p.Lys71Met)
c.575A>T (p.Lys192Met)
c.422A>T (p.Lys141Met)
c.656A>T (p.Lys219Met)
c.773A>T (p.Lys258Met)
c.419A>T (p.Lys140Met)
n.765A>T
6g.161973377T>CCA4090278PRKNc.537A>G (n.537A>G)
c.418A>G (n.418A>G)
c.659A>G (p.Lys220Arg)
c.654A>G
n.677A>G
n.295A>G
n.766A>G
c.86A>G (p.Lys29Arg)
c.212A>G (p.Lys71Arg)
c.575A>G (p.Lys192Arg)
c.422A>G (p.Lys141Arg)
c.656A>G (p.Lys219Arg)
c.773A>G (p.Lys258Arg)
c.419A>G (p.Lys140Arg)
n.765A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973377T>GCA366466939PRKNc.537A>C (n.537A>C)
c.418A>C (n.418A>C)
c.659A>C (p.Lys220Thr)
c.654A>C
n.677A>C
n.295A>C
n.766A>C
c.86A>C (p.Lys29Thr)
c.212A>C (p.Lys71Thr)
c.575A>C (p.Lys192Thr)
c.422A>C (p.Lys141Thr)
c.656A>C (p.Lys219Thr)
c.773A>C (p.Lys258Thr)
c.419A>C (p.Lys140Thr)
n.765A>C
6g.161973377T=CA1677783365PRKNc.537A= (n.537A=)
c.418A= (n.418A=)
c.659A= (p.Lys220=)
c.654A=
n.677A=
n.295A=
n.766A=
c.86A= (p.Lys29=)
c.212A= (p.Lys71=)
c.575A= (p.Lys192=)
c.422A= (p.Lys141=)
c.656A= (p.Lys219=)
c.773A= (p.Lys258=)
c.419A= (p.Lys140=)
n.765A=
6g.161973378T>ACA366466940PRKNc.536A>T (n.536A>T)
c.417A>T (n.417A>T)
c.658A>T (p.Lys220Ter)
c.653A>T
n.676A>T
n.294A>T
n.765A>T
c.85A>T (p.Lys29Ter)
c.211A>T (p.Lys71Ter)
c.574A>T (p.Lys192Ter)
c.421A>T (p.Lys141Ter)
c.655A>T (p.Lys219Ter)
c.772A>T (p.Lys258Ter)
c.418A>T (p.Lys140Ter)
n.764A>T
6g.161973378T>CCA366466941PRKNc.536A>G (n.536A>G)
c.417A>G (n.417A>G)
c.658A>G (p.Lys220Glu)
c.653A>G
n.676A>G
n.294A>G
n.765A>G
c.85A>G (p.Lys29Glu)
c.211A>G (p.Lys71Glu)
c.574A>G (p.Lys192Glu)
c.421A>G (p.Lys141Glu)
c.655A>G (p.Lys219Glu)
c.772A>G (p.Lys258Glu)
c.418A>G (p.Lys140Glu)
n.764A>G
6g.161973378T>GCA366466942PRKNc.536A>C (n.536A>C)
c.417A>C (n.417A>C)
c.658A>C (p.Lys220Gln)
c.653A>C
n.676A>C
n.294A>C
n.765A>C
c.85A>C (p.Lys29Gln)
c.211A>C (p.Lys71Gln)
c.574A>C (p.Lys192Gln)
c.421A>C (p.Lys141Gln)
c.655A>C (p.Lys219Gln)
c.772A>C (p.Lys258Gln)
c.418A>C (p.Lys140Gln)
n.764A>C
6g.161973379G>ACA453047777PRKNc.535C>T (n.535C>T)
c.416C>T (n.416C>T)
c.657C>T (p.Asp219=)
c.652C>T
n.675C>T
n.293C>T
n.764C>T
c.84C>T (p.Asp28=)
c.210C>T (p.Asp70=)
c.573C>T (p.Asp191=)
c.420C>T (p.Asp140=)
c.654C>T (p.Asp218=)
c.771C>T (p.Asp257=)
c.417C>T (p.Asp139=)
n.763C>T
6g.161973379G>CCA366466943PRKNc.535C>G (n.535C>G)
c.416C>G (n.416C>G)
c.657C>G (p.Asp219Glu)
c.652C>G
n.675C>G
n.293C>G
n.764C>G
c.84C>G (p.Asp28Glu)
c.210C>G (p.Asp70Glu)
c.573C>G (p.Asp191Glu)
c.420C>G (p.Asp140Glu)
c.654C>G (p.Asp218Glu)
c.771C>G (p.Asp257Glu)
c.417C>G (p.Asp139Glu)
n.763C>G
6g.161973379G>TCA366466944PRKNc.535C>A (n.535C>A)
c.416C>A (n.416C>A)
c.657C>A (p.Asp219Glu)
c.652C>A
n.675C>A
n.293C>A
n.764C>A
c.84C>A (p.Asp28Glu)
c.210C>A (p.Asp70Glu)
c.573C>A (p.Asp191Glu)
c.420C>A (p.Asp140Glu)
c.654C>A (p.Asp218Glu)
c.771C>A (p.Asp257Glu)
c.417C>A (p.Asp139Glu)
n.763C>A
6g.161973380T>ACA366466945PRKNc.534A>T (n.534A>T)
c.415A>T (n.415A>T)
c.656A>T (p.Asp219Val)
c.651A>T
n.674A>T
n.292A>T
n.763A>T
c.83A>T (p.Asp28Val)
c.209A>T (p.Asp70Val)
c.572A>T (p.Asp191Val)
c.419A>T (p.Asp140Val)
c.653A>T (p.Asp218Val)
c.770A>T (p.Asp257Val)
c.416A>T (p.Asp139Val)
n.762A>T
6g.161973380T>CCA366466946PRKNc.534A>G (n.534A>G)
c.415A>G (n.415A>G)
c.656A>G (p.Asp219Gly)
c.651A>G
n.674A>G
n.292A>G
n.763A>G
c.83A>G (p.Asp28Gly)
c.209A>G (p.Asp70Gly)
c.572A>G (p.Asp191Gly)
c.419A>G (p.Asp140Gly)
c.653A>G (p.Asp218Gly)
c.770A>G (p.Asp257Gly)
c.416A>G (p.Asp139Gly)
n.762A>G
6g.161973380T>GCA366466947PRKNc.534A>C (n.534A>C)
c.415A>C (n.415A>C)
c.656A>C (p.Asp219Ala)
c.651A>C
n.674A>C
n.292A>C
n.763A>C
c.83A>C (p.Asp28Ala)
c.209A>C (p.Asp70Ala)
c.572A>C (p.Asp191Ala)
c.419A>C (p.Asp140Ala)
c.653A>C (p.Asp218Ala)
c.770A>C (p.Asp257Ala)
c.416A>C (p.Asp139Ala)
n.762A>C
 gnomAD v4
6g.161973381C>ACA366466950PRKNc.533G>T (n.533G>T)
c.414G>T (n.414G>T)
c.655G>T (p.Asp219Tyr)
c.650G>T
n.673G>T
n.291G>T
n.762G>T
c.82G>T (p.Asp28Tyr)
c.208G>T (p.Asp70Tyr)
c.571G>T (p.Asp191Tyr)
c.418G>T (p.Asp140Tyr)
c.652G>T (p.Asp218Tyr)
c.769G>T (p.Asp257Tyr)
c.415G>T (p.Asp139Tyr)
n.761G>T
6g.161973381C>GCA366466949PRKNc.533G>C (n.533G>C)
c.414G>C (n.414G>C)
c.655G>C (p.Asp219His)
c.650G>C
n.673G>C
n.291G>C
n.762G>C
c.82G>C (p.Asp28His)
c.208G>C (p.Asp70His)
c.571G>C (p.Asp191His)
c.418G>C (p.Asp140His)
c.652G>C (p.Asp218His)
c.769G>C (p.Asp257His)
c.415G>C (p.Asp139His)
n.761G>C
6g.161973381C>TCA366466948PRKNc.533G>A (n.533G>A)
c.414G>A (n.414G>A)
c.655G>A (p.Asp219Asn)
c.650G>A
n.673G>A
n.291G>A
n.762G>A
c.82G>A (p.Asp28Asn)
c.208G>A (p.Asp70Asn)
c.571G>A (p.Asp191Asn)
c.418G>A (p.Asp140Asn)
c.652G>A (p.Asp218Asn)
c.769G>A (p.Asp257Asn)
c.415G>A (p.Asp139Asn)
n.761G>A
 gnomAD v4
6g.161973381_161973387delinsCAGAGGTCA1677783366PRKNc.527_533delinsACCTCTG (n.527_533delinsACCTCTG)
c.408_414delinsACCTCTG (n.408_414delinsACCTCTG)
c.649_655delinsACCTCTG (p.Thr217=)
c.644_650delinsACCTCTG
n.667_673delinsACCTCTG
n.285_291delinsACCTCTG
n.756_762delinsACCTCTG
c.76_82delinsACCTCTG (p.Thr26=)
c.202_208delinsACCTCTG (p.Thr68=)
c.565_571delinsACCTCTG (p.Thr189=)
c.412_418delinsACCTCTG (p.Thr138=)
c.646_652delinsACCTCTG (p.Thr216=)
c.763_769delinsACCTCTG (p.Thr255=)
c.409_415delinsACCTCTG (p.Thr137=)
n.755_761delinsACCTCTG
6g.161973382A>CCA453047778PRKNc.532T>G (n.532T>G)
c.413T>G (n.413T>G)
c.654T>G (p.Ser218=)
c.649T>G
n.672T>G
n.290T>G
n.761T>G
c.81T>G (p.Ser27=)
c.207T>G (p.Ser69=)
c.570T>G (p.Ser190=)
c.417T>G (p.Ser139=)
c.651T>G (p.Ser217=)
c.768T>G (p.Ser256=)
c.414T>G (p.Ser138=)
n.760T>G
6g.161973382A>GCA453047779PRKNc.532T>C (n.532T>C)
c.413T>C (n.413T>C)
c.654T>C (p.Ser218=)
c.649T>C
n.672T>C
n.290T>C
n.761T>C
c.81T>C (p.Ser27=)
c.207T>C (p.Ser69=)
c.570T>C (p.Ser190=)
c.417T>C (p.Ser139=)
c.651T>C (p.Ser217=)
c.768T>C (p.Ser256=)
c.414T>C (p.Ser138=)
n.760T>C
6g.161973382A>TCA453047780PRKNc.532T>A (n.532T>A)
c.413T>A (n.413T>A)
c.654T>A (p.Ser218=)
c.649T>A
n.672T>A
n.290T>A
n.761T>A
c.81T>A (p.Ser27=)
c.207T>A (p.Ser69=)
c.570T>A (p.Ser190=)
c.417T>A (p.Ser139=)
c.651T>A (p.Ser217=)
c.768T>A (p.Ser256=)
c.414T>A (p.Ser138=)
n.760T>A
6g.161973382_161973387delCA151579787PRKNc.527_532del (n.527_532del)
c.408_413del (n.408_413del)
c.649_654del (p.Thr217_Ser218del)
c.644_649del
n.667_672del
n.285_290del
n.756_761del
c.76_81del (p.Thr26_Ser27del)
c.202_207del (p.Thr68_Ser69del)
c.565_570del (p.Thr189_Ser190del)
c.412_417del (p.Thr138_Ser139del)
c.646_651del (p.Thr216_Ser217del)
c.763_768del (p.Thr255_Ser256del)
c.409_414del (p.Thr137_Ser138del)
n.755_760del
 dbSNP gnomAD v4
6g.161973383G>ACA366466951PRKNc.531C>T (n.531C>T)
c.412C>T (n.412C>T)
c.653C>T (p.Ser218Phe)
c.648C>T
n.671C>T
n.289C>T
n.760C>T
c.80C>T (p.Ser27Phe)
c.206C>T (p.Ser69Phe)
c.569C>T (p.Ser190Phe)
c.416C>T (p.Ser139Phe)
c.650C>T (p.Ser217Phe)
c.767C>T (p.Ser256Phe)
c.413C>T (p.Ser138Phe)
n.759C>T
6g.161973383G>CCA4090279PRKNc.531C>G (n.531C>G)
c.412C>G (n.412C>G)
c.653C>G (p.Ser218Cys)
c.648C>G
n.671C>G
n.289C>G
n.760C>G
c.80C>G (p.Ser27Cys)
c.206C>G (p.Ser69Cys)
c.569C>G (p.Ser190Cys)
c.416C>G (p.Ser139Cys)
c.650C>G (p.Ser217Cys)
c.767C>G (p.Ser256Cys)
c.413C>G (p.Ser138Cys)
n.759C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973383G=CA1677783367PRKNc.531C= (n.531C=)
c.412C= (n.412C=)
c.653C= (p.Ser218=)
c.648C=
n.671C=
n.289C=
n.760C=
c.80C= (p.Ser27=)
c.206C= (p.Ser69=)
c.569C= (p.Ser190=)
c.416C= (p.Ser139=)
c.650C= (p.Ser217=)
c.767C= (p.Ser256=)
c.413C= (p.Ser138=)
n.759C=
6g.161973383G>TCA366466952PRKNc.531C>A (n.531C>A)
c.412C>A (n.412C>A)
c.653C>A (p.Ser218Tyr)
c.648C>A
n.671C>A
n.289C>A
n.760C>A
c.80C>A (p.Ser27Tyr)
c.206C>A (p.Ser69Tyr)
c.569C>A (p.Ser190Tyr)
c.416C>A (p.Ser139Tyr)
c.650C>A (p.Ser217Tyr)
c.767C>A (p.Ser256Tyr)
c.413C>A (p.Ser138Tyr)
n.759C>A
6g.161973384A>CCA366466953PRKNc.530T>G (n.530T>G)
c.411T>G (n.411T>G)
c.652T>G (p.Ser218Ala)
c.647T>G
n.670T>G
n.288T>G
n.759T>G
c.79T>G (p.Ser27Ala)
c.205T>G (p.Ser69Ala)
c.568T>G (p.Ser190Ala)
c.415T>G (p.Ser139Ala)
c.649T>G (p.Ser217Ala)
c.766T>G (p.Ser256Ala)
c.412T>G (p.Ser138Ala)
n.758T>G
6g.161973384A>GCA366466954PRKNc.530T>C (n.530T>C)
c.411T>C (n.411T>C)
c.652T>C (p.Ser218Pro)
c.647T>C
n.670T>C
n.288T>C
n.759T>C
c.79T>C (p.Ser27Pro)
c.205T>C (p.Ser69Pro)
c.568T>C (p.Ser190Pro)
c.415T>C (p.Ser139Pro)
c.649T>C (p.Ser217Pro)
c.766T>C (p.Ser256Pro)
c.412T>C (p.Ser138Pro)
n.758T>C
6g.161973384A>TCA366466955PRKNc.530T>A (n.530T>A)
c.411T>A (n.411T>A)
c.652T>A (p.Ser218Thr)
c.647T>A
n.670T>A
n.288T>A
n.759T>A
c.79T>A (p.Ser27Thr)
c.205T>A (p.Ser69Thr)
c.568T>A (p.Ser190Thr)
c.415T>A (p.Ser139Thr)
c.649T>A (p.Ser217Thr)
c.766T>A (p.Ser256Thr)
c.412T>A (p.Ser138Thr)
n.758T>A
6g.161973385G>ACA453047783PRKNc.529C>T (n.529C>T)
c.410C>T (n.410C>T)
c.651C>T (p.Thr217=)
c.646C>T
n.669C>T
n.287C>T
n.758C>T
c.78C>T (p.Thr26=)
c.204C>T (p.Thr68=)
c.567C>T (p.Thr189=)
c.414C>T (p.Thr138=)
c.648C>T (p.Thr216=)
c.765C>T (p.Thr255=)
c.411C>T (p.Thr137=)
n.757C>T
6g.161973385G>CCA453047782PRKNc.529C>G (n.529C>G)
c.410C>G (n.410C>G)
c.651C>G (p.Thr217=)
c.646C>G
n.669C>G
n.287C>G
n.758C>G
c.78C>G (p.Thr26=)
c.204C>G (p.Thr68=)
c.567C>G (p.Thr189=)
c.414C>G (p.Thr138=)
c.648C>G (p.Thr216=)
c.765C>G (p.Thr255=)
c.411C>G (p.Thr137=)
n.757C>G
6g.161973385G>TCA453047781PRKNc.529C>A (n.529C>A)
c.410C>A (n.410C>A)
c.651C>A (p.Thr217=)
c.646C>A
n.669C>A
n.287C>A
n.758C>A
c.78C>A (p.Thr26=)
c.204C>A (p.Thr68=)
c.567C>A (p.Thr189=)
c.414C>A (p.Thr138=)
c.648C>A (p.Thr216=)
c.765C>A (p.Thr255=)
c.411C>A (p.Thr137=)
n.757C>A
6g.161973386G>ACA366466956PRKNc.528C>T (n.528C>T)
c.409C>T (n.409C>T)
c.650C>T (p.Thr217Ile)
c.645C>T
n.668C>T
n.286C>T
n.757C>T
c.77C>T (p.Thr26Ile)
c.203C>T (p.Thr68Ile)
c.566C>T (p.Thr189Ile)
c.413C>T (p.Thr138Ile)
c.647C>T (p.Thr216Ile)
c.764C>T (p.Thr255Ile)
c.410C>T (p.Thr137Ile)
n.756C>T
 gnomAD v4
6g.161973386G>CCA366466957PRKNc.528C>G (n.528C>G)
c.409C>G (n.409C>G)
c.650C>G (p.Thr217Ser)
c.645C>G
n.668C>G
n.286C>G
n.757C>G
c.77C>G (p.Thr26Ser)
c.203C>G (p.Thr68Ser)
c.566C>G (p.Thr189Ser)
c.413C>G (p.Thr138Ser)
c.647C>G (p.Thr216Ser)
c.764C>G (p.Thr255Ser)
c.410C>G (p.Thr137Ser)
n.756C>G
 gnomAD v4
6g.161973386G>TCA366466958PRKNc.528C>A (n.528C>A)
c.409C>A (n.409C>A)
c.650C>A (p.Thr217Asn)
c.645C>A
n.668C>A
n.286C>A
n.757C>A
c.77C>A (p.Thr26Asn)
c.203C>A (p.Thr68Asn)
c.566C>A (p.Thr189Asn)
c.413C>A (p.Thr138Asn)
c.647C>A (p.Thr216Asn)
c.764C>A (p.Thr255Asn)
c.410C>A (p.Thr137Asn)
n.756C>A
6g.161973387T>ACA366466959PRKNc.527A>T (n.527A>T)
c.408A>T (n.408A>T)
c.649A>T (p.Thr217Ser)
c.644A>T
n.667A>T
n.285A>T
n.756A>T
c.76A>T (p.Thr26Ser)
c.202A>T (p.Thr68Ser)
c.565A>T (p.Thr189Ser)
c.412A>T (p.Thr138Ser)
c.646A>T (p.Thr216Ser)
c.763A>T (p.Thr255Ser)
c.409A>T (p.Thr137Ser)
n.755A>T
6g.161973387T>CCA366466960PRKNc.527A>G (n.527A>G)
c.408A>G (n.408A>G)
c.649A>G (p.Thr217Ala)
c.644A>G
n.667A>G
n.285A>G
n.756A>G
c.76A>G (p.Thr26Ala)
c.202A>G (p.Thr68Ala)
c.565A>G (p.Thr189Ala)
c.412A>G (p.Thr138Ala)
c.646A>G (p.Thr216Ala)
c.763A>G (p.Thr255Ala)
c.409A>G (p.Thr137Ala)
n.755A>G
6g.161973387T>GCA366466961PRKNc.527A>C (n.527A>C)
c.408A>C (n.408A>C)
c.649A>C (p.Thr217Pro)
c.644A>C
n.667A>C
n.285A>C
n.756A>C
c.76A>C (p.Thr26Pro)
c.202A>C (p.Thr68Pro)
c.565A>C (p.Thr189Pro)
c.412A>C (p.Thr138Pro)
c.646A>C (p.Thr216Pro)
c.763A>C (p.Thr255Pro)
c.409A>C (p.Thr137Pro)
n.755A>C
 gnomAD v4
6g.161973388G>ACA453047786PRKNc.526C>T (n.526C>T)
c.407C>T (n.407C>T)
c.648C>T (p.Pro216=)
c.643C>T
n.666C>T
n.284C>T
n.755C>T
c.75C>T (p.Pro25=)
c.201C>T (p.Pro67=)
c.564C>T (p.Pro188=)
c.411C>T (p.Pro137=)
c.645C>T (p.Pro215=)
c.762C>T (p.Pro254=)
c.408C>T (p.Pro136=)
n.754C>T
 dbSNP COSMIC COSMIC
6g.161973388G>CCA453047785PRKNc.526C>G (n.526C>G)
c.407C>G (n.407C>G)
c.648C>G (p.Pro216=)
c.643C>G
n.666C>G
n.284C>G
n.755C>G
c.75C>G (p.Pro25=)
c.201C>G (p.Pro67=)
c.564C>G (p.Pro188=)
c.411C>G (p.Pro137=)
c.645C>G (p.Pro215=)
c.762C>G (p.Pro254=)
c.408C>G (p.Pro136=)
n.754C>G
6g.161973388G=CA1677783368PRKNc.526C= (n.526C=)
c.407C= (n.407C=)
c.648C= (p.Pro216=)
c.643C=
n.666C=
n.284C=
n.755C=
c.75C= (p.Pro25=)
c.201C= (p.Pro67=)
c.564C= (p.Pro188=)
c.411C= (p.Pro137=)
c.645C= (p.Pro215=)
c.762C= (p.Pro254=)
c.408C= (p.Pro136=)
n.754C=
6g.161973388G>TCA453047784PRKNc.526C>A (n.526C>A)
c.407C>A (n.407C>A)
c.648C>A (p.Pro216=)
c.643C>A
n.666C>A
n.284C>A
n.755C>A
c.75C>A (p.Pro25=)
c.201C>A (p.Pro67=)
c.564C>A (p.Pro188=)
c.411C>A (p.Pro137=)
c.645C>A (p.Pro215=)
c.762C>A (p.Pro254=)
c.408C>A (p.Pro136=)
n.754C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.161973391delCA2739289954PRKNc.526del (n.526del)
c.407del (n.407del)
c.648del (p.Thr217ProfsTer8)
c.643del
n.666del
n.284del
n.755del
c.75del (p.Thr26ProfsTer8)
c.201del (p.Thr68ProfsTer8)
c.564del (p.Thr189ProfsTer8)
c.411del (p.Thr138ProfsTer8)
c.645del (p.Thr216ProfsTer8)
c.762del (p.Thr255ProfsTer8)
c.408del (p.Thr137ProfsTer8)
n.754del
6g.161973389G>ACA366466963PRKNc.525C>T (n.525C>T)
c.406C>T (n.406C>T)
c.647C>T (p.Pro216Leu)
c.642C>T
n.665C>T
n.283C>T
n.754C>T
c.74C>T (p.Pro25Leu)
c.200C>T (p.Pro67Leu)
c.563C>T (p.Pro188Leu)
c.410C>T (p.Pro137Leu)
c.644C>T (p.Pro215Leu)
c.761C>T (p.Pro254Leu)
c.407C>T (p.Pro136Leu)
n.753C>T
 dbSNP
6g.161973389G>CCA366466964PRKNc.525C>G (n.525C>G)
c.406C>G (n.406C>G)
c.647C>G (p.Pro216Arg)
c.642C>G
n.665C>G
n.283C>G
n.754C>G
c.74C>G (p.Pro25Arg)
c.200C>G (p.Pro67Arg)
c.563C>G (p.Pro188Arg)
c.410C>G (p.Pro137Arg)
c.644C>G (p.Pro215Arg)
c.761C>G (p.Pro254Arg)
c.407C>G (p.Pro136Arg)
n.753C>G
 dbSNP
6g.161973389G=CA1677783369PRKNc.525C= (n.525C=)
c.406C= (n.406C=)
c.647C= (p.Pro216=)
c.642C=
n.665C=
n.283C=
n.754C=
c.74C= (p.Pro25=)
c.200C= (p.Pro67=)
c.563C= (p.Pro188=)
c.410C= (p.Pro137=)
c.644C= (p.Pro215=)
c.761C= (p.Pro254=)
c.407C= (p.Pro136=)
n.753C=
6g.161973389G>TCA366466962PRKNc.525C>A (n.525C>A)
c.406C>A (n.406C>A)
c.647C>A (p.Pro216His)
c.642C>A
n.665C>A
n.283C>A
n.754C>A
c.74C>A (p.Pro25His)
c.200C>A (p.Pro67His)
c.563C>A (p.Pro188His)
c.410C>A (p.Pro137His)
c.644C>A (p.Pro215His)
c.761C>A (p.Pro254His)
c.407C>A (p.Pro136His)
n.753C>A
6g.161973390G>ACA366466965PRKNc.524C>T (n.524C>T)
c.405C>T (n.405C>T)
c.646C>T (p.Pro216Ser)
c.641C>T
n.664C>T
n.282C>T
n.753C>T
c.73C>T (p.Pro25Ser)
c.199C>T (p.Pro67Ser)
c.562C>T (p.Pro188Ser)
c.409C>T (p.Pro137Ser)
c.643C>T (p.Pro215Ser)
c.760C>T (p.Pro254Ser)
c.406C>T (p.Pro136Ser)
n.752C>T
 dbSNP COSMIC COSMIC
6g.161973390G>CCA366466966PRKNc.524C>G (n.524C>G)
c.405C>G (n.405C>G)
c.646C>G (p.Pro216Ala)
c.641C>G
n.664C>G
n.282C>G
n.753C>G
c.73C>G (p.Pro25Ala)
c.199C>G (p.Pro67Ala)
c.562C>G (p.Pro188Ala)
c.409C>G (p.Pro137Ala)
c.643C>G (p.Pro215Ala)
c.760C>G (p.Pro254Ala)
c.406C>G (p.Pro136Ala)
n.752C>G
 dbSNP gnomAD v3 gnomAD v4
6g.161973390G=CA1677783370PRKNc.524C= (n.524C=)
c.405C= (n.405C=)
c.646C= (p.Pro216=)
c.641C=
n.664C=
n.282C=
n.753C=
c.73C= (p.Pro25=)
c.199C= (p.Pro67=)
c.562C= (p.Pro188=)
c.409C= (p.Pro137=)
c.643C= (p.Pro215=)
c.760C= (p.Pro254=)
c.406C= (p.Pro136=)
n.752C=
6g.161973390G>TCA366466967PRKNc.524C>A (n.524C>A)
c.405C>A (n.405C>A)
c.646C>A (p.Pro216Thr)
c.641C>A
n.664C>A
n.282C>A
n.753C>A
c.73C>A (p.Pro25Thr)
c.199C>A (p.Pro67Thr)
c.562C>A (p.Pro188Thr)
c.409C>A (p.Pro137Thr)
c.643C>A (p.Pro215Thr)
c.760C>A (p.Pro254Thr)
c.406C>A (p.Pro136Thr)
n.752C>A
6g.161973391G>ACA453047787PRKNc.523C>T (n.523C>T)
c.404C>T (n.404C>T)
c.645C>T (p.His215=)
c.640C>T
n.663C>T
n.281C>T
n.752C>T
c.72C>T (p.His24=)
c.198C>T (p.His66=)
c.561C>T (p.His187=)
c.408C>T (p.His136=)
c.642C>T (p.His214=)
c.759C>T (p.His253=)
c.405C>T (p.His135=)
n.751C>T
6g.161973391G>CCA366466968PRKNc.523C>G (n.523C>G)
c.404C>G (n.404C>G)
c.645C>G (p.His215Gln)
c.640C>G
n.663C>G
n.281C>G
n.752C>G
c.72C>G (p.His24Gln)
c.198C>G (p.His66Gln)
c.561C>G (p.His187Gln)
c.408C>G (p.His136Gln)
c.642C>G (p.His214Gln)
c.759C>G (p.His253Gln)
c.405C>G (p.His135Gln)
n.751C>G
6g.161973391G=CA1677783371PRKNc.523C= (n.523C=)
c.404C= (n.404C=)
c.645C= (p.His215=)
c.640C=
n.663C=
n.281C=
n.752C=
c.72C= (p.His24=)
c.198C= (p.His66=)
c.561C= (p.His187=)
c.408C= (p.His136=)
c.642C= (p.His214=)
c.759C= (p.His253=)
c.405C= (p.His135=)
n.751C=
6g.161973391G>TCA4090280PRKNc.523C>A (n.523C>A)
c.404C>A (n.404C>A)
c.645C>A (p.His215Gln)
c.640C>A
n.663C>A
n.281C>A
n.752C>A
c.72C>A (p.His24Gln)
c.198C>A (p.His66Gln)
c.561C>A (p.His187Gln)
c.408C>A (p.His136Gln)
c.642C>A (p.His214Gln)
c.759C>A (p.His253Gln)
c.405C>A (p.His135Gln)
n.751C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973392T>ACA366466971PRKNc.522A>T (n.522A>T)
c.403A>T (n.403A>T)
c.644A>T (p.His215Leu)
c.639A>T
n.662A>T
n.280A>T
n.751A>T
c.71A>T (p.His24Leu)
c.197A>T (p.His66Leu)
c.560A>T (p.His187Leu)
c.407A>T (p.His136Leu)
c.641A>T (p.His214Leu)
c.758A>T (p.His253Leu)
c.404A>T (p.His135Leu)
n.750A>T
6g.161973392T>CCA366466969PRKNc.522A>G (n.522A>G)
c.403A>G (n.403A>G)
c.644A>G (p.His215Arg)
c.639A>G
n.662A>G
n.280A>G
n.751A>G
c.71A>G (p.His24Arg)
c.197A>G (p.His66Arg)
c.560A>G (p.His187Arg)
c.407A>G (p.His136Arg)
c.641A>G (p.His214Arg)
c.758A>G (p.His253Arg)
c.404A>G (p.His135Arg)
n.750A>G
 gnomAD v4
6g.161973392T>GCA366466970PRKNc.522A>C (n.522A>C)
c.403A>C (n.403A>C)
c.644A>C (p.His215Pro)
c.639A>C
n.662A>C
n.280A>C
n.751A>C
c.71A>C (p.His24Pro)
c.197A>C (p.His66Pro)
c.560A>C (p.His187Pro)
c.407A>C (p.His136Pro)
c.641A>C (p.His214Pro)
c.758A>C (p.His253Pro)
c.404A>C (p.His135Pro)
n.750A>C
 ClinVar dbSNP gnomAD v4
6g.161973392T=CA1677783372PRKNc.522A= (n.522A=)
c.403A= (n.403A=)
c.644A= (p.His215=)
c.639A=
n.662A=
n.280A=
n.751A=
c.71A= (p.His24=)
c.197A= (p.His66=)
c.560A= (p.His187=)
c.407A= (p.His136=)
c.641A= (p.His214=)
c.758A= (p.His253=)
c.404A= (p.His135=)
n.750A=
6g.161973393G>ACA366466972PRKNc.521C>T (n.521C>T)
c.402C>T (n.402C>T)
c.643C>T (p.His215Tyr)
c.638C>T
n.661C>T
n.279C>T
n.750C>T
c.70C>T (p.His24Tyr)
c.196C>T (p.His66Tyr)
c.559C>T (p.His187Tyr)
c.406C>T (p.His136Tyr)
c.640C>T (p.His214Tyr)
c.757C>T (p.His253Tyr)
c.403C>T (p.His135Tyr)
n.749C>T
 dbSNP
6g.161973393G>CCA366466973PRKNc.521C>G (n.521C>G)
c.402C>G (n.402C>G)
c.643C>G (p.His215Asp)
c.638C>G
n.661C>G
n.279C>G
n.750C>G
c.70C>G (p.His24Asp)
c.196C>G (p.His66Asp)
c.559C>G (p.His187Asp)
c.406C>G (p.His136Asp)
c.640C>G (p.His214Asp)
c.757C>G (p.His253Asp)
c.403C>G (p.His135Asp)
n.749C>G
6g.161973393G>TCA366466974PRKNc.521C>A (n.521C>A)
c.402C>A (n.402C>A)
c.643C>A (p.His215Asn)
c.638C>A
n.661C>A
n.279C>A
n.750C>A
c.70C>A (p.His24Asn)
c.196C>A (p.His66Asn)
c.559C>A (p.His187Asn)
c.406C>A (p.His136Asn)
c.640C>A (p.His214Asn)
c.757C>A (p.His253Asn)
c.403C>A (p.His135Asn)
n.749C>A
6g.161973394T>ACA453047788PRKNc.520A>T (n.520A>T)
c.401A>T (n.401A>T)
c.642A>T (p.Ala214=)
c.637A>T
n.660A>T
n.278A>T
n.749A>T
c.69A>T (p.Ala23=)
c.195A>T (p.Ala65=)
c.558A>T (p.Ala186=)
c.405A>T (p.Ala135=)
c.639A>T (p.Ala213=)
c.756A>T (p.Ala252=)
c.402A>T (p.Ala134=)
n.748A>T
6g.161973394T>CCA453047789PRKNc.520A>G (n.520A>G)
c.401A>G (n.401A>G)
c.642A>G (p.Ala214=)
c.637A>G
n.660A>G
n.278A>G
n.749A>G
c.69A>G (p.Ala23=)
c.195A>G (p.Ala65=)
c.558A>G (p.Ala186=)
c.405A>G (p.Ala135=)
c.639A>G (p.Ala213=)
c.756A>G (p.Ala252=)
c.402A>G (p.Ala134=)
n.748A>G
6g.161973394T>GCA453047790PRKNc.520A>C (n.520A>C)
c.401A>C (n.401A>C)
c.642A>C (p.Ala214=)
c.637A>C
n.660A>C
n.278A>C
n.749A>C
c.69A>C (p.Ala23=)
c.195A>C (p.Ala65=)
c.558A>C (p.Ala186=)
c.405A>C (p.Ala135=)
c.639A>C (p.Ala213=)
c.756A>C (p.Ala252=)
c.402A>C (p.Ala134=)
n.748A>C
 dbSNP
6g.161973394T=CA1677783373PRKNc.520A= (n.520A=)
c.401A= (n.401A=)
c.642A= (p.Ala214=)
c.637A=
n.660A=
n.278A=
n.749A=
c.69A= (p.Ala23=)
c.195A= (p.Ala65=)
c.558A= (p.Ala186=)
c.405A= (p.Ala135=)
c.639A= (p.Ala213=)
c.756A= (p.Ala252=)
c.402A= (p.Ala134=)
n.748A=
6g.161973395G>ACA366466975PRKNc.519C>T (n.519C>T)
c.400C>T (n.400C>T)
c.641C>T (p.Ala214Val)
c.636C>T
n.659C>T
n.277C>T
n.748C>T
c.68C>T (p.Ala23Val)
c.194C>T (p.Ala65Val)
c.557C>T (p.Ala186Val)
c.404C>T (p.Ala135Val)
c.638C>T (p.Ala213Val)
c.755C>T (p.Ala252Val)
c.401C>T (p.Ala134Val)
n.747C>T
 dbSNP
6g.161973395G>CCA366466976PRKNc.519C>G (n.519C>G)
c.400C>G (n.400C>G)
c.641C>G (p.Ala214Gly)
c.636C>G
n.659C>G
n.277C>G
n.748C>G
c.68C>G (p.Ala23Gly)
c.194C>G (p.Ala65Gly)
c.557C>G (p.Ala186Gly)
c.404C>G (p.Ala135Gly)
c.638C>G (p.Ala213Gly)
c.755C>G (p.Ala252Gly)
c.401C>G (p.Ala134Gly)
n.747C>G
6g.161973395G=CA1677783374PRKNc.519C= (n.519C=)
c.400C= (n.400C=)
c.641C= (p.Ala214=)
c.636C=
n.659C=
n.277C=
n.748C=
c.68C= (p.Ala23=)
c.194C= (p.Ala65=)
c.557C= (p.Ala186=)
c.404C= (p.Ala135=)
c.638C= (p.Ala213=)
c.755C= (p.Ala252=)
c.401C= (p.Ala134=)
n.747C=
6g.161973395G>TCA366466977PRKNc.519C>A (n.519C>A)
c.400C>A (n.400C>A)
c.641C>A (p.Ala214Glu)
c.636C>A
n.659C>A
n.277C>A
n.748C>A
c.68C>A (p.Ala23Glu)
c.194C>A (p.Ala65Glu)
c.557C>A (p.Ala186Glu)
c.404C>A (p.Ala135Glu)
c.638C>A (p.Ala213Glu)
c.755C>A (p.Ala252Glu)
c.401C>A (p.Ala134Glu)
n.747C>A
 dbSNP COSMIC
6g.161973396C>ACA366466979PRKNc.518G>T (n.518G>T)
c.399G>T (n.399G>T)
c.640G>T (p.Ala214Ser)
c.635G>T
n.658G>T
n.276G>T
n.747G>T
c.67G>T (p.Ala23Ser)
c.193G>T (p.Ala65Ser)
c.556G>T (p.Ala186Ser)
c.403G>T (p.Ala135Ser)
c.637G>T (p.Ala213Ser)
c.754G>T (p.Ala252Ser)
c.400G>T (p.Ala134Ser)
n.746G>T
6g.161973396C=CA1677783375PRKNc.518G= (n.518G=)
c.399G= (n.399G=)
c.640G= (p.Ala214=)
c.635G=
n.658G=
n.276G=
n.747G=
c.67G= (p.Ala23=)
c.193G= (p.Ala65=)
c.556G= (p.Ala186=)
c.403G= (p.Ala135=)
c.637G= (p.Ala213=)
c.754G= (p.Ala252=)
c.400G= (p.Ala134=)
n.746G=
6g.161973396C>GCA366466980PRKNc.518G>C (n.518G>C)
c.399G>C (n.399G>C)
c.640G>C (p.Ala214Pro)
c.635G>C
n.658G>C
n.276G>C
n.747G>C
c.67G>C (p.Ala23Pro)
c.193G>C (p.Ala65Pro)
c.556G>C (p.Ala186Pro)
c.403G>C (p.Ala135Pro)
c.637G>C (p.Ala213Pro)
c.754G>C (p.Ala252Pro)
c.400G>C (p.Ala134Pro)
n.746G>C
6g.161973396C>TCA366466978PRKNc.518G>A (n.518G>A)
c.399G>A (n.399G>A)
c.640G>A (p.Ala214Thr)
c.635G>A
n.658G>A
n.276G>A
n.747G>A
c.67G>A (p.Ala23Thr)
c.193G>A (p.Ala65Thr)
c.556G>A (p.Ala186Thr)
c.403G>A (p.Ala135Thr)
c.637G>A (p.Ala213Thr)
c.754G>A (p.Ala252Thr)
c.400G>A (p.Ala134Thr)
n.746G>A
 dbSNP gnomAD v2 gnomAD v4
6g.161973397T>ACA453047791PRKNc.517A>T (n.517A>T)
c.398A>T (n.398A>T)
c.639A>T (p.Gly213=)
c.634A>T
n.657A>T
n.275A>T
n.746A>T
c.66A>T (p.Gly22=)
c.192A>T (p.Gly64=)
c.555A>T (p.Gly185=)
c.402A>T (p.Gly134=)
c.636A>T (p.Gly212=)
c.753A>T (p.Gly251=)
c.399A>T (p.Gly133=)
n.745A>T
6g.161973397T>CCA4090281PRKNc.517A>G (n.517A>G)
c.398A>G (n.398A>G)
c.639A>G (p.Gly213=)
c.634A>G
n.657A>G
n.275A>G
n.746A>G
c.66A>G (p.Gly22=)
c.192A>G (p.Gly64=)
c.555A>G (p.Gly185=)
c.402A>G (p.Gly134=)
c.636A>G (p.Gly212=)
c.753A>G (p.Gly251=)
c.399A>G (p.Gly133=)
n.745A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973397T>GCA453047792PRKNc.517A>C (n.517A>C)
c.398A>C (n.398A>C)
c.639A>C (p.Gly213=)
c.634A>C
n.657A>C
n.275A>C
n.746A>C
c.66A>C (p.Gly22=)
c.192A>C (p.Gly64=)
c.555A>C (p.Gly185=)
c.402A>C (p.Gly134=)
c.636A>C (p.Gly212=)
c.753A>C (p.Gly251=)
c.399A>C (p.Gly133=)
n.745A>C
6g.161973397T=CA1677783376PRKNc.517A= (n.517A=)
c.398A= (n.398A=)
c.639A= (p.Gly213=)
c.634A=
n.657A=
n.275A=
n.746A=
c.66A= (p.Gly22=)
c.192A= (p.Gly64=)
c.555A= (p.Gly185=)
c.402A= (p.Gly134=)
c.636A= (p.Gly212=)
c.753A= (p.Gly251=)
c.399A= (p.Gly133=)
n.745A=
6g.161973398C>ACA366466981PRKNc.516G>T (n.516G>T)
c.397G>T (n.397G>T)
c.638G>T (p.Gly213Val)
c.633G>T
n.656G>T
n.274G>T
n.745G>T
c.65G>T (p.Gly22Val)
c.191G>T (p.Gly64Val)
c.554G>T (p.Gly185Val)
c.401G>T (p.Gly134Val)
c.635G>T (p.Gly212Val)
c.752G>T (p.Gly251Val)
c.398G>T (p.Gly133Val)
n.744G>T
 COSMIC COSMIC
6g.161973398C>GCA366466983PRKNc.516G>C (n.516G>C)
c.397G>C (n.397G>C)
c.638G>C (p.Gly213Ala)
c.633G>C
n.656G>C
n.274G>C
n.745G>C
c.65G>C (p.Gly22Ala)
c.191G>C (p.Gly64Ala)
c.554G>C (p.Gly185Ala)
c.401G>C (p.Gly134Ala)
c.635G>C (p.Gly212Ala)
c.752G>C (p.Gly251Ala)
c.398G>C (p.Gly133Ala)
n.744G>C
6g.161973398C>TCA366466982PRKNc.516G>A (n.516G>A)
c.397G>A (n.397G>A)
c.638G>A (p.Gly213Glu)
c.633G>A
n.656G>A
n.274G>A
n.745G>A
c.65G>A (p.Gly22Glu)
c.191G>A (p.Gly64Glu)
c.554G>A (p.Gly185Glu)
c.401G>A (p.Gly134Glu)
c.635G>A (p.Gly212Glu)
c.752G>A (p.Gly251Glu)
c.398G>A (p.Gly133Glu)
n.744G>A
6g.161973399C>ACA366466984PRKNc.515G>T (n.515G>T)
c.396G>T (n.396G>T)
c.637G>T (p.Gly213Ter)
c.632G>T
n.655G>T
n.273G>T
n.744G>T
c.64G>T (p.Gly22Ter)
c.190G>T (p.Gly64Ter)
c.553G>T (p.Gly185Ter)
c.400G>T (p.Gly134Ter)
c.634G>T (p.Gly212Ter)
c.751G>T (p.Gly251Ter)
c.397G>T (p.Gly133Ter)
n.743G>T
6g.161973399C=CA1677783377PRKNc.515G= (n.515G=)
c.396G= (n.396G=)
c.637G= (p.Gly213=)
c.632G=
n.655G=
n.273G=
n.744G=
c.64G= (p.Gly22=)
c.190G= (p.Gly64=)
c.553G= (p.Gly185=)
c.400G= (p.Gly134=)
c.634G= (p.Gly212=)
c.751G= (p.Gly251=)
c.397G= (p.Gly133=)
n.743G=
6g.161973399C>GCA366466985PRKNc.515G>C (n.515G>C)
c.396G>C (n.396G>C)
c.637G>C (p.Gly213Arg)
c.632G>C
n.655G>C
n.273G>C
n.744G>C
c.64G>C (p.Gly22Arg)
c.190G>C (p.Gly64Arg)
c.553G>C (p.Gly185Arg)
c.400G>C (p.Gly134Arg)
c.634G>C (p.Gly212Arg)
c.751G>C (p.Gly251Arg)
c.397G>C (p.Gly133Arg)
n.743G>C
6g.161973399C>TCA366466986PRKNc.515G>A (n.515G>A)
c.396G>A (n.396G>A)
c.637G>A (p.Gly213Arg)
c.632G>A
n.655G>A
n.273G>A
n.744G>A
c.64G>A (p.Gly22Arg)
c.190G>A (p.Gly64Arg)
c.553G>A (p.Gly185Arg)
c.400G>A (p.Gly134Arg)
c.634G>A (p.Gly212Arg)
c.751G>A (p.Gly251Arg)
c.397G>A (p.Gly133Arg)
n.743G>A
 dbSNP
6g.161973401_161973402delCA2695207289PRKNc.514_515del (n.514_515del)
c.395_396del (n.395_396del)
c.636_637del (p.Cys212TrpfsTer7)
c.631_632del
n.654_655del
n.272_273del
n.743_744del
c.63_64del (p.Cys21TrpfsTer7)
c.189_190del (p.Cys63TrpfsTer7)
c.552_553del (p.Cys184TrpfsTer7)
c.399_400del (p.Cys133TrpfsTer7)
c.633_634del (p.Cys211TrpfsTer7)
c.750_751del (p.Cys250TrpfsTer7)
c.396_397del (p.Cys132TrpfsTer7)
n.742_743del
6g.161973400delCA2695207290PRKNc.514del (n.514del)
c.395del (n.395del)
c.636del (p.Cys212TrpfsTer13)
c.631del
n.654del
n.272del
n.743del
c.63del (p.Cys21TrpfsTer13)
c.189del (p.Cys63TrpfsTer13)
c.552del (p.Cys184TrpfsTer13)
c.399del (p.Cys133TrpfsTer13)
c.633del (p.Cys211TrpfsTer13)
c.750del (p.Cys250TrpfsTer13)
c.396del (p.Cys132TrpfsTer13)
n.742del
6g.161973400A=CA1677783378PRKNc.514T= (n.514T=)
c.395T= (n.395T=)
c.636T= (p.Cys212=)
c.631T=
n.654T=
n.272T=
n.743T=
c.63T= (p.Cys21=)
c.189T= (p.Cys63=)
c.552T= (p.Cys184=)
c.399T= (p.Cys133=)
c.633T= (p.Cys211=)
c.750T= (p.Cys250=)
c.396T= (p.Cys132=)
n.742T=
6g.161973400A>CCA366466987PRKNc.514T>G (n.514T>G)
c.395T>G (n.395T>G)
c.636T>G (p.Cys212Trp)
c.631T>G
n.654T>G
n.272T>G
n.743T>G
c.63T>G (p.Cys21Trp)
c.189T>G (p.Cys63Trp)
c.552T>G (p.Cys184Trp)
c.399T>G (p.Cys133Trp)
c.633T>G (p.Cys211Trp)
c.750T>G (p.Cys250Trp)
c.396T>G (p.Cys132Trp)
n.742T>G
 ClinVar dbSNP
6g.161973400A>GCA453047793PRKNc.514T>C (n.514T>C)
c.395T>C (n.395T>C)
c.636T>C (p.Cys212=)
c.631T>C
n.654T>C
n.272T>C
n.743T>C
c.63T>C (p.Cys21=)
c.189T>C (p.Cys63=)
c.552T>C (p.Cys184=)
c.399T>C (p.Cys133=)
c.633T>C (p.Cys211=)
c.750T>C (p.Cys250=)
c.396T>C (p.Cys132=)
n.742T>C
6g.161973400A>TCA366466988PRKNc.514T>A (n.514T>A)
c.395T>A (n.395T>A)
c.636T>A (p.Cys212Ter)
c.631T>A
n.654T>A
n.272T>A
n.743T>A
c.63T>A (p.Cys21Ter)
c.189T>A (p.Cys63Ter)
c.552T>A (p.Cys184Ter)
c.399T>A (p.Cys133Ter)
c.633T>A (p.Cys211Ter)
c.750T>A (p.Cys250Ter)
c.396T>A (p.Cys132Ter)
n.742T>A
6g.161973401C>ACA366466989PRKNc.513G>T (n.513G>T)
c.394G>T (n.394G>T)
c.635G>T (p.Cys212Phe)
c.630G>T
n.653G>T
n.271G>T
n.742G>T
c.62G>T (p.Cys21Phe)
c.188G>T (p.Cys63Phe)
c.551G>T (p.Cys184Phe)
c.398G>T (p.Cys133Phe)
c.632G>T (p.Cys211Phe)
c.749G>T (p.Cys250Phe)
c.395G>T (p.Cys132Phe)
n.741G>T
6g.161973401C=CA1677783379PRKNc.513G= (n.513G=)
c.394G= (n.394G=)
c.635G= (p.Cys212=)
c.630G=
n.653G=
n.271G=
n.742G=
c.62G= (p.Cys21=)
c.188G= (p.Cys63=)
c.551G= (p.Cys184=)
c.398G= (p.Cys133=)
c.632G= (p.Cys211=)
c.749G= (p.Cys250=)
c.395G= (p.Cys132=)
n.741G=
6g.161973401C>GCA366466990PRKNc.513G>C (n.513G>C)
c.394G>C (n.394G>C)
c.635G>C (p.Cys212Ser)
c.630G>C
n.653G>C
n.271G>C
n.742G>C
c.62G>C (p.Cys21Ser)
c.188G>C (p.Cys63Ser)
c.551G>C (p.Cys184Ser)
c.398G>C (p.Cys133Ser)
c.632G>C (p.Cys211Ser)
c.749G>C (p.Cys250Ser)
c.395G>C (p.Cys132Ser)
n.741G>C
6g.161973401C>TCA254084PRKNc.513G>A (n.513G>A)
c.394G>A (n.394G>A)
c.635G>A (p.Cys212Tyr)
c.630G>A
n.653G>A
n.271G>A
n.742G>A
c.62G>A (p.Cys21Tyr)
c.188G>A (p.Cys63Tyr)
c.551G>A (p.Cys184Tyr)
c.398G>A (p.Cys133Tyr)
c.632G>A (p.Cys211Tyr)
c.749G>A (p.Cys250Tyr)
c.395G>A (p.Cys132Tyr)
n.741G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.161973402A=CA1677783380PRKNc.512T= (n.512T=)
c.393T= (n.393T=)
c.634T= (p.Cys212=)
c.629T=
n.652T=
n.270T=
n.741T=
c.61T= (p.Cys21=)
c.187T= (p.Cys63=)
c.550T= (p.Cys184=)
c.397T= (p.Cys133=)
c.631T= (p.Cys211=)
c.748T= (p.Cys250=)
c.394T= (p.Cys132=)
n.740T=
6g.161973402A>CCA366466991PRKNc.512T>G (n.512T>G)
c.393T>G (n.393T>G)
c.634T>G (p.Cys212Gly)
c.629T>G
n.652T>G
n.270T>G
n.741T>G
c.61T>G (p.Cys21Gly)
c.187T>G (p.Cys63Gly)
c.550T>G (p.Cys184Gly)
c.397T>G (p.Cys133Gly)
c.631T>G (p.Cys211Gly)
c.748T>G (p.Cys250Gly)
c.394T>G (p.Cys132Gly)
n.740T>G
 dbSNP
6g.161973402A>GCA366466992PRKNc.512T>C (n.512T>C)
c.393T>C (n.393T>C)
c.634T>C (p.Cys212Arg)
c.629T>C
n.652T>C
n.270T>C
n.741T>C
c.61T>C (p.Cys21Arg)
c.187T>C (p.Cys63Arg)
c.550T>C (p.Cys184Arg)
c.397T>C (p.Cys133Arg)
c.631T>C (p.Cys211Arg)
c.748T>C (p.Cys250Arg)
c.394T>C (p.Cys132Arg)
n.740T>C
 dbSNP
6g.161973402A>TCA366466993PRKNc.512T>A (n.512T>A)
c.393T>A (n.393T>A)
c.634T>A (p.Cys212Ser)
c.629T>A
n.652T>A
n.270T>A
n.741T>A
c.61T>A (p.Cys21Ser)
c.187T>A (p.Cys63Ser)
c.550T>A (p.Cys184Ser)
c.397T>A (p.Cys133Ser)
c.631T>A (p.Cys211Ser)
c.748T>A (p.Cys250Ser)
c.394T>A (p.Cys132Ser)
n.740T>A
6g.161973403T>ACA254087PRKNc.511A>T (n.511A>T)
c.392A>T (n.392A>T)
c.633A>T (p.Lys211Asn)
c.628A>T
n.651A>T
n.269A>T
n.740A>T
c.60A>T (p.Lys20Asn)
c.186A>T (p.Lys62Asn)
c.549A>T (p.Lys183Asn)
c.396A>T (p.Lys132Asn)
c.630A>T (p.Lys210Asn)
c.747A>T (p.Lys249Asn)
c.393A>T (p.Lys131Asn)
n.739A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.161973403T>CCA453047794PRKNc.511A>G (n.511A>G)
c.392A>G (n.392A>G)
c.633A>G (p.Lys211=)
c.628A>G
n.651A>G
n.269A>G
n.740A>G
c.60A>G (p.Lys20=)
c.186A>G (p.Lys62=)
c.549A>G (p.Lys183=)
c.396A>G (p.Lys132=)
c.630A>G (p.Lys210=)
c.747A>G (p.Lys249=)
c.393A>G (p.Lys131=)
n.739A>G
6g.161973403T>GCA366466994PRKNc.511A>C (n.511A>C)
c.392A>C (n.392A>C)
c.633A>C (p.Lys211Asn)
c.628A>C
n.651A>C
n.269A>C
n.740A>C
c.60A>C (p.Lys20Asn)
c.186A>C (p.Lys62Asn)
c.549A>C (p.Lys183Asn)
c.396A>C (p.Lys132Asn)
c.630A>C (p.Lys210Asn)
c.747A>C (p.Lys249Asn)
c.393A>C (p.Lys131Asn)
n.739A>C
 COSMIC COSMIC
6g.161973403T=CA1677783381PRKNc.511A= (n.511A=)
c.392A= (n.392A=)
c.633A= (p.Lys211=)
c.628A=
n.651A=
n.269A=
n.740A=
c.60A= (p.Lys20=)
c.186A= (p.Lys62=)
c.549A= (p.Lys183=)
c.396A= (p.Lys132=)
c.630A= (p.Lys210=)
c.747A= (p.Lys249=)
c.393A= (p.Lys131=)
n.739A=

Number of alleles fetched