Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.201317681C>ACA1324255PKP1c.956C>A (p.Thr319Asn)
n.298C>A
c.953C>A (p.Thr318Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317681C=CA1219691284PKP1c.956C= (p.Thr319=)
n.298C=
c.953C= (p.Thr318=)
1g.201317681C>GCA344178423PKP1c.956C>G (p.Thr319Ser)
n.298C>G
c.953C>G (p.Thr318Ser)
1g.201317681C>TCA344178422PKP1c.956C>T (p.Thr319Ile)
n.298C>T
c.953C>T (p.Thr318Ile)
dbSNP gnomAD v2 gnomAD v4
1g.201317682C>ACA422716453PKP1c.957C>A (p.Thr319=)
n.299C>A
c.954C>A (p.Thr318=)
1g.201317682C=CA1219691285PKP1c.957C= (p.Thr319=)
n.299C=
c.954C= (p.Thr318=)
1g.201317682C>GCA422716454PKP1c.957C>G (p.Thr319=)
n.299C>G
c.954C>G (p.Thr318=)
1g.201317682C>TCA1324256PKP1c.957C>T (p.Thr319=)
n.299C>T
c.954C>T (p.Thr318=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317683A=CA1219691286PKP1c.958A= (p.Thr320=)
n.300A=
c.955A= (p.Thr319=)
1g.201317683A>CCA344178426PKP1c.958A>C (p.Thr320Pro)
n.300A>C
c.955A>C (p.Thr319Pro)
1g.201317683A>GCA344178427PKP1c.958A>G (p.Thr320Ala)
n.300A>G
c.955A>G (p.Thr319Ala)
dbSNP gnomAD v2 gnomAD v4
1g.201317683A>TCA344178428PKP1c.958A>T (p.Thr320Ser)
n.300A>T
c.955A>T (p.Thr319Ser)
1g.201317684C>ACA344178431PKP1c.959C>A (p.Thr320Asn)
n.301C>A
c.956C>A (p.Thr319Asn)
COSMIC COSMIC
1g.201317684C>GCA344178433PKP1c.959C>G (p.Thr320Ser)
n.301C>G
c.956C>G (p.Thr319Ser)
1g.201317684C>TCA344178434PKP1c.959C>T (p.Thr320Ile)
n.301C>T
c.956C>T (p.Thr319Ile)
1g.201317685C>ACA422716455PKP1c.960C>A (p.Thr320=)
n.302C>A
c.957C>A (p.Thr319=)
1g.201317685C=CA1219691287PKP1c.960C= (p.Thr320=)
n.302C=
c.957C= (p.Thr319=)
1g.201317685C>GCA422716457PKP1c.960C>G (p.Thr320=)
n.302C>G
c.957C>G (p.Thr319=)
1g.201317685C>TCA422716456PKP1c.960C>T (p.Thr320=)
n.302C>T
c.957C>T (p.Thr319=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317686A>CCA344178437PKP1c.961A>C (p.Asn321His)
n.303A>C
c.958A>C (p.Asn320His)
1g.201317686A>GCA344178439PKP1c.961A>G (p.Asn321Asp)
n.303A>G
c.958A>G (p.Asn320Asp)
gnomAD v4
1g.201317686A>TCA344178440PKP1c.961A>T (p.Asn321Tyr)
n.303A>T
c.958A>T (p.Asn320Tyr)
1g.201317687A=CA1219691288PKP1c.962A= (p.Asn321=)
n.304A=
c.959A= (p.Asn320=)
1g.201317687A>CCA36036662PKP1c.962A>C (p.Asn321Thr)
n.304A>C
c.959A>C (p.Asn320Thr)
dbSNP gnomAD v4
1g.201317687A>GCA344178443PKP1c.962A>G (p.Asn321Ser)
n.304A>G
c.959A>G (p.Asn320Ser)
dbSNP
1g.201317687A>TCA344178445PKP1c.962A>T (p.Asn321Ile)
n.304A>T
c.959A>T (p.Asn320Ile)
1g.201317688C>ACA344178446PKP1c.963C>A (p.Asn321Lys)
n.305C>A
c.960C>A (p.Asn320Lys)
1g.201317688C>GCA344178448PKP1c.963C>G (p.Asn321Lys)
n.305C>G
c.960C>G (p.Asn320Lys)
1g.201317688C>TCA422716458PKP1c.963C>T (p.Asn321=)
n.305C>T
c.960C>T (p.Asn320=)
1g.201317689A=CA1219691289PKP1c.964A= (p.Lys322=)
n.306A=
c.961A= (p.Lys321=)
1g.201317689A>CCA344178450PKP1c.964A>C (p.Lys322Gln)
n.306A>C
c.961A>C (p.Lys321Gln)
1g.201317689A>GCA1324257PKP1c.964A>G (p.Lys322Glu)
n.306A>G
c.961A>G (p.Lys321Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317689A>TCA344178453PKP1c.964A>T (p.Lys322Ter)
n.306A>T
c.961A>T (p.Lys321Ter)
1g.201317690A=CA1219691290PKP1c.965A= (p.Lys322=)
n.307A=
c.962A= (p.Lys321=)
1g.201317690A>CCA344178455PKP1c.965A>C (p.Lys322Thr)
n.307A>C
c.962A>C (p.Lys321Thr)
1g.201317690A>GCA344178457PKP1c.965A>G (p.Lys322Arg)
n.307A>G
c.962A>G (p.Lys321Arg)
dbSNP gnomAD v4
1g.201317690A>TCA344178459PKP1c.965A>T (p.Lys322Met)
n.307A>T
c.962A>T (p.Lys321Met)
1g.201317691G>ACA422716460PKP1c.966G>A (p.Lys322=)
n.308G>A
c.963G>A (p.Lys321=)
gnomAD v4
1g.201317691G>CCA344178461PKP1c.966G>C (p.Lys322Asn)
n.308G>C
c.963G>C (p.Lys321Asn)
1g.201317691G>TCA344178462PKP1c.966G>T (p.Lys322Asn)
n.308G>T
c.963G>T (p.Lys321Asn)
1g.201317692C>ACA344178465PKP1c.967C>A (p.Leu323Met)
n.309C>A
c.964C>A (p.Leu322Met)
1g.201317692C=CA1219691291PKP1c.967C= (p.Leu323=)
n.309C=
c.964C= (p.Leu322=)
1g.201317692C>GCA344178467PKP1c.967C>G (p.Leu323Val)
n.309C>G
c.964C>G (p.Leu322Val)
1g.201317692C>TCA422716461PKP1c.967C>T (p.Leu323=)
n.309C>T
c.964C>T (p.Leu322=)
dbSNP
1g.201317693T>ACA344178469PKP1c.968T>A (p.Leu323Gln)
n.310T>A
c.965T>A (p.Leu322Gln)
1g.201317693T>CCA344178471PKP1c.968T>C (p.Leu323Pro)
n.310T>C
c.965T>C (p.Leu322Pro)
gnomAD v4
1g.201317693T>GCA344178472PKP1c.968T>G (p.Leu323Arg)
n.310T>G
c.965T>G (p.Leu322Arg)
1g.201317694G>ACA422716465PKP1c.969G>A (p.Leu323=)
n.311G>A
c.966G>A (p.Leu322=)
gnomAD v4
1g.201317694G>CCA422716466PKP1c.969G>C (p.Leu323=)
n.311G>C
c.966G>C (p.Leu322=)
1g.201317694G>TCA422716467PKP1c.969G>T (p.Leu323=)
n.311G>T
c.966G>T (p.Leu322=)
1g.201317695G>ACA344178473PKP1c.970G>A (p.Glu324Lys)
n.312G>A
c.967G>A (p.Glu323Lys)
dbSNP gnomAD v4
1g.201317695G>CCA344178476PKP1c.970G>C (p.Glu324Gln)
n.312G>C
c.967G>C (p.Glu323Gln)
1g.201317695G=CA1219691292PKP1c.970G= (p.Glu324=)
n.312G=
c.967G= (p.Glu323=)
1g.201317695G>TCA344178474PKP1c.970G>T (p.Glu324Ter)
n.312G>T
c.967G>T (p.Glu323Ter)
1g.201317696A>CCA344178478PKP1c.971A>C (p.Glu324Ala)
n.313A>C
c.968A>C (p.Glu323Ala)
1g.201317696A>GCA344178479PKP1c.971A>G (p.Glu324Gly)
n.313A>G
c.968A>G (p.Glu323Gly)
1g.201317696A>TCA344178481PKP1c.971A>T (p.Glu324Val)
n.313A>T
c.968A>T (p.Glu323Val)
1g.201317697G>ACA422716468PKP1c.972G>A (p.Glu324=)
n.314G>A
c.969G>A (p.Glu323=)
1g.201317697G>CCA344178483PKP1c.972G>C (p.Glu324Asp)
n.314G>C
c.969G>C (p.Glu323Asp)
1g.201317697G=CA1219691293PKP1c.972G= (p.Glu324=)
n.314G=
c.969G= (p.Glu323=)
1g.201317697G>TCA344178484PKP1c.972G>T (p.Glu324Asp)
n.314G>T
c.969G>T (p.Glu323Asp)
dbSNP gnomAD v3 gnomAD v4
1g.201317698A>CCA344178487PKP1c.973A>C (p.Thr325Pro)
n.315A>C
c.970A>C (p.Thr324Pro)
1g.201317698A>GCA344178488PKP1c.973A>G (p.Thr325Ala)
n.315A>G
c.970A>G (p.Thr324Ala)
1g.201317698A>TCA344178490PKP1c.973A>T (p.Thr325Ser)
n.315A>T
c.970A>T (p.Thr324Ser)
1g.201317699C>ACA344178492PKP1c.974C>A (p.Thr325Asn)
n.316C>A
c.971C>A (p.Thr324Asn)
1g.201317699C>GCA344178493PKP1c.974C>G (p.Thr325Ser)
n.316C>G
c.971C>G (p.Thr324Ser)
1g.201317699C>TCA344178495PKP1c.974C>T (p.Thr325Ile)
n.316C>T
c.971C>T (p.Thr324Ile)
gnomAD v4
1g.201317700C>ACA422716469PKP1c.975C>A (p.Thr325=)
n.317C>A
c.972C>A (p.Thr324=)
1g.201317700C>GCA422716471PKP1c.975C>G (p.Thr325=)
n.317C>G
c.972C>G (p.Thr324=)
1g.201317700C>TCA422716470PKP1c.975C>T (p.Thr325=)
n.317C>T
c.972C>T (p.Thr324=)
1g.201317701C>ACA422716472PKP1c.976C>A (p.Arg326=)
n.318C>A
c.973C>A (p.Arg325=)
1g.201317701C=CA1219691294PKP1c.976C= (p.Arg326=)
n.318C=
c.973C= (p.Arg325=)
1g.201317701C>GCA344178498PKP1c.976C>G (p.Arg326Gly)
n.318C>G
c.973C>G (p.Arg325Gly)
1g.201317701C>TCA1324258PKP1c.976C>T (p.Arg326Trp)
n.318C>T
c.973C>T (p.Arg325Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317702G>ACA1324259PKP1c.977G>A (p.Arg326Gln)
n.319G>A
c.974G>A (p.Arg325Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317702G>CCA344178501PKP1c.977G>C (p.Arg326Pro)
n.319G>C
c.974G>C (p.Arg325Pro)
1g.201317702G=CA1219691295PKP1c.977G= (p.Arg326=)
n.319G=
c.974G= (p.Arg325=)
1g.201317702G>TCA344178503PKP1c.977G>T (p.Arg326Leu)
n.319G>T
c.974G>T (p.Arg325Leu)
1g.201317702_201317703delinsATCA36036666PKP1c.977_978delinsAT (p.Arg326His)
n.319_320delinsAT
c.974_975delinsAT (p.Arg325His)
dbSNP
1g.201317702_201317703delinsGGCA1219691296PKP1c.977_978delinsGG (p.Arg326=)
n.319_320delinsGG
c.974_975delinsGG (p.Arg325=)
1g.201317703G>ACA422716475PKP1c.978G>A (p.Arg326=)
n.320G>A
c.975G>A (p.Arg325=)
1g.201317703G>CCA422716473PKP1c.978G>C (p.Arg326=)
n.320G>C
c.975G>C (p.Arg325=)
1g.201317703G>TCA422716474PKP1c.978G>T (p.Arg326=)
n.320G>T
c.975G>T (p.Arg325=)
1g.201317704A=CA1219691297PKP1c.979A= (p.Arg327=)
n.321A=
c.976A= (p.Arg326=)
1g.201317704A>CCA422716476PKP1c.979A>C (p.Arg327=)
n.321A>C
c.976A>C (p.Arg326=)
1g.201317704A>GCA344178505PKP1c.979A>G (p.Arg327Gly)
n.321A>G
c.976A>G (p.Arg326Gly)
1g.201317704A>TCA36036668PKP1c.979A>T (p.Arg327Trp)
n.321A>T
c.976A>T (p.Arg326Trp)
dbSNP
1g.201317705G>ACA344178508PKP1c.980G>A (p.Arg327Lys)
n.322G>A
c.977G>A (p.Arg326Lys)
1g.201317705G>CCA344178510PKP1c.980G>C (p.Arg327Thr)
n.322G>C
c.977G>C (p.Arg326Thr)
1g.201317705G>TCA344178512PKP1c.980G>T (p.Arg327Met)
n.322G>T
c.977G>T (p.Arg326Met)
1g.201317706G>ACA1324260PKP1c.981G>A (p.Arg327=)
n.323G>A
c.978G>A (p.Arg326=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317706G>CCA344178514PKP1c.981G>C (p.Arg327Ser)
n.323G>C
c.978G>C (p.Arg326Ser)
1g.201317706G=CA1141680535PKP1c.981G= (p.Arg327=)
n.323G=
c.978G= (p.Arg326=)
1g.201317706G>TCA344178516PKP1c.981G>T (p.Arg327Ser)
n.323G>T
c.978G>T (p.Arg326Ser)
gnomAD v4
1g.201317707C>ACA344178518PKP1c.982C>A (p.Gln328Lys)
n.324C>A
c.979C>A (p.Gln327Lys)
1g.201317707C>GCA344178520PKP1c.982C>G (p.Gln328Glu)
n.324C>G
c.979C>G (p.Gln327Glu)
1g.201317707C>TCA344178522PKP1c.982C>T (p.Gln328Ter)
n.324C>T
c.979C>T (p.Gln327Ter)
1g.201317708A>CCA344178524PKP1c.983A>C (p.Gln328Pro)
n.325A>C
c.980A>C (p.Gln327Pro)
1g.201317708A>GCA344178527PKP1c.983A>G (p.Gln328Arg)
n.325A>G
c.980A>G (p.Gln327Arg)
1g.201317708A>TCA344178525PKP1c.983A>T (p.Gln328Leu)
n.325A>T
c.980A>T (p.Gln327Leu)
1g.201317709G>ACA422716481PKP1c.984G>A (p.Gln328=)
n.326G>A
c.981G>A (p.Gln327=)
gnomAD v4
1g.201317709G>CCA344178529PKP1c.984G>C (p.Gln328His)
n.326G>C
c.981G>C (p.Gln327His)
1g.201317709G>TCA344178530PKP1c.984G>T (p.Gln328His)
n.326G>T
c.981G>T (p.Gln327His)
1g.201317710A>CCA344178531PKP1c.985A>C (p.Asn329His)
n.327A>C
c.982A>C (p.Asn328His)
1g.201317710A>GCA344178532PKP1c.985A>G (p.Asn329Asp)
n.327A>G
c.982A>G (p.Asn328Asp)
1g.201317710A>TCA344178534PKP1c.985A>T (p.Asn329Tyr)
n.327A>T
c.982A>T (p.Asn328Tyr)
1g.201317711A>CCA344178536PKP1c.986A>C (p.Asn329Thr)
n.328A>C
c.983A>C (p.Asn328Thr)
1g.201317711A>GCA344178537PKP1c.986A>G (p.Asn329Ser)
n.328A>G
c.983A>G (p.Asn328Ser)
1g.201317711A>TCA344178539PKP1c.986A>T (p.Asn329Ile)
n.328A>T
c.983A>T (p.Asn328Ile)
1g.201317712T>ACA344178541PKP1c.987T>A (p.Asn329Lys)
n.329T>A
c.984T>A (p.Asn328Lys)
1g.201317712T>CCA422716485PKP1c.987T>C (p.Asn329=)
n.329T>C
c.984T>C (p.Asn328=)
1g.201317712T>GCA344178542PKP1c.987T>G (p.Asn329Lys)
n.329T>G
c.984T>G (p.Asn328Lys)
1g.201317713G>ACA344178545PKP1c.988G>A (p.Gly330Arg)
n.330G>A
c.985G>A (p.Gly329Arg)
gnomAD v4
1g.201317713G>CCA344178548PKP1c.988G>C (p.Gly330Arg)
n.330G>C
c.985G>C (p.Gly329Arg)
1g.201317713G>TCA344178546PKP1c.988G>T (p.Gly330Trp)
n.330G>T
c.985G>T (p.Gly329Trp)
1g.201317714G>ACA1324262PKP1c.989G>A (p.Gly330Glu)
n.331G>A
c.986G>A (p.Gly329Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317714G>CCA1324261PKP1c.989G>C (p.Gly330Ala)
n.331G>C
c.986G>C (p.Gly329Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317714G=CA1219691298PKP1c.989G= (p.Gly330=)
n.331G=
c.986G= (p.Gly329=)
1g.201317714G>TCA344178551PKP1c.989G>T (p.Gly330Val)
n.331G>T
c.986G>T (p.Gly329Val)
dbSNP gnomAD v2 gnomAD v4
1g.201317715G>ACA1324263PKP1c.990G>A (p.Gly330=)
n.332G>A
c.987G>A (p.Gly329=)
dbSNP ExAC gnomAD v2
1g.201317715G>CCA422716490PKP1c.990G>C (p.Gly330=)
n.332G>C
c.987G>C (p.Gly329=)
1g.201317715G=CA1219691299PKP1c.990G= (p.Gly330=)
n.332G=
c.987G= (p.Gly329=)
1g.201317715G>TCA422716491PKP1c.990G>T (p.Gly330=)
n.332G>T
c.987G>T (p.Gly329=)
1g.201317716A>CCA344178553PKP1c.991A>C (p.Ile331Leu)
n.333A>C
c.988A>C (p.Ile330Leu)
1g.201317716A>GCA344178557PKP1c.991A>G (p.Ile331Val)
n.333A>G
c.988A>G (p.Ile330Val)
gnomAD v4
1g.201317716A>TCA344178555PKP1c.991A>T (p.Ile331Phe)
n.333A>T
c.988A>T (p.Ile330Phe)
1g.201317717T>ACA344178560PKP1c.992T>A (p.Ile331Asn)
n.334T>A
c.989T>A (p.Ile330Asn)
gnomAD v4
1g.201317717T>CCA344178562PKP1c.992T>C (p.Ile331Thr)
n.334T>C
c.989T>C (p.Ile330Thr)
1g.201317717T>GCA344178563PKP1c.992T>G (p.Ile331Ser)
n.334T>G
c.989T>G (p.Ile330Ser)
1g.201317718C>ACA422716493PKP1c.993C>A (p.Ile331=)
n.335C>A
c.990C>A (p.Ile330=)
dbSNP gnomAD v4
1g.201317718C=CA1219691300PKP1c.993C= (p.Ile331=)
n.335C=
c.990C= (p.Ile330=)
1g.201317718C>GCA344178566PKP1c.993C>G (p.Ile331Met)
n.335C>G
c.990C>G (p.Ile330Met)
1g.201317718C>TCA422716494PKP1c.993C>T (p.Ile331=)
n.335C>T
c.990C>T (p.Ile330=)
dbSNP gnomAD v2 gnomAD v4
1g.201317719C>ACA344178569PKP1c.994C>A (p.Arg332Ser)
n.336C>A
c.991C>A (p.Arg331Ser)
1g.201317719C=CA1146939933PKP1c.994C= (p.Arg332=)
n.336C=
c.991C= (p.Arg331=)
1g.201317719C>GCA344178571PKP1c.994C>G (p.Arg332Gly)
n.336C>G
c.991C>G (p.Arg331Gly)
1g.201317719C>TCA1324264PKP1c.994C>T (p.Arg332Cys)
n.336C>T
c.991C>T (p.Arg331Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317720G>ACA1324265PKP1c.995G>A (p.Arg332His)
n.337G>A
c.992G>A (p.Arg331His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.201317720G>CCA1324266PKP1c.995G>C (p.Arg332Pro)
n.337G>C
c.992G>C (p.Arg331Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317720G=CA1219691301PKP1c.995G= (p.Arg332=)
n.337G=
c.992G= (p.Arg331=)
1g.201317720G>TCA344178577PKP1c.995G>T (p.Arg332Leu)
n.337G>T
c.992G>T (p.Arg331Leu)
dbSNP
1g.201317721C>ACA422716498PKP1c.996C>A (p.Arg332=)
n.338C>A
c.993C>A (p.Arg331=)
dbSNP gnomAD v4
1g.201317721C=CA1142190758PKP1c.996C= (p.Arg332=)
n.338C=
c.993C= (p.Arg331=)
1g.201317721C>GCA422716500PKP1c.996C>G (p.Arg332=)
n.338C>G
c.993C>G (p.Arg331=)
1g.201317721C>TCA1324267PKP1c.996C>T (p.Arg332=)
n.338C>T
c.993C>T (p.Arg331=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317722G>ACA344178580PKP1c.997G>A (p.Glu333Lys)
n.339G>A
c.994G>A (p.Glu332Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317722G>CCA344178582PKP1c.997G>C (p.Glu333Gln)
n.339G>C
c.994G>C (p.Glu332Gln)
1g.201317722G=CA1219691302PKP1c.997G= (p.Glu333=)
n.339G=
c.994G= (p.Glu332=)
1g.201317722G>TCA344178581PKP1c.997G>T (p.Glu333Ter)
n.339G>T
c.994G>T (p.Glu332Ter)
1g.201317723A>CCA344178585PKP1c.998A>C (p.Glu333Ala)
n.340A>C
c.995A>C (p.Glu332Ala)
1g.201317723A>GCA344178587PKP1c.998A>G (p.Glu333Gly)
n.340A>G
c.995A>G (p.Glu332Gly)
1g.201317723A>TCA344178588PKP1c.998A>T (p.Glu333Val)
n.340A>T
c.995A>T (p.Glu332Val)
1g.201317724G>ACA422716501PKP1c.999G>A (p.Glu333=)
n.341G>A
c.996G>A (p.Glu332=)
1g.201317724G>CCA344178590PKP1c.999G>C (p.Glu333Asp)
n.341G>C
c.996G>C (p.Glu332Asp)
dbSNP gnomAD v2 gnomAD v4
1g.201317724G=CA1219691303PKP1c.999G= (p.Glu333=)
n.341G=
c.996G= (p.Glu332=)
1g.201317724G>TCA344178592PKP1c.999G>T (p.Glu333Asp)
n.341G>T
c.996G>T (p.Glu332Asp)
1g.201317725G>ACA344178594PKP1c.1000G>A (p.Ala334Thr)
n.342G>A
c.997G>A (p.Ala333Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317725G>CCA344178595PKP1c.1000G>C (p.Ala334Pro)
n.342G>C
c.997G>C (p.Ala333Pro)
1g.201317725G=CA1219691304PKP1c.1000G= (p.Ala334=)
n.342G=
c.997G= (p.Ala333=)
1g.201317725G>TCA344178598PKP1c.1000G>T (p.Ala334Ser)
n.342G>T
c.997G>T (p.Ala333Ser)
1g.201317726C>ACA344178600PKP1c.1001C>A (p.Ala334Glu)
n.343C>A
c.998C>A (p.Ala333Glu)
1g.201317726C>GCA344178601PKP1c.1001C>G (p.Ala334Gly)
n.343C>G
c.998C>G (p.Ala333Gly)
1g.201317726C>TCA344178603PKP1c.1001C>T (p.Ala334Val)
n.343C>T
c.998C>T (p.Ala333Val)
1g.201317727A=CA1219691305PKP1c.1002A= (p.Ala334=)
n.344A=
c.999A= (p.Ala333=)
1g.201317727A>CCA422716507PKP1c.1002A>C (p.Ala334=)
n.344A>C
c.999A>C (p.Ala333=)
dbSNP gnomAD v2 gnomAD v4
1g.201317727A>GCA422716505PKP1c.1002A>G (p.Ala334=)
n.344A>G
c.999A>G (p.Ala333=)
1g.201317727A>TCA422716506PKP1c.1002A>T (p.Ala334=)
n.344A>T
c.999A>T (p.Ala333=)
1g.201317728G>ACA344178609PKP1c.1003G>A (p.Val335Ile)
n.345G>A
c.1000G>A (p.Val334Ile)
gnomAD v4
1g.201317728G>CCA344178607PKP1c.1003G>C (p.Val335Leu)
n.345G>C
c.1000G>C (p.Val334Leu)
1g.201317728G>TCA344178606PKP1c.1003G>T (p.Val335Phe)
n.345G>T
c.1000G>T (p.Val334Phe)
1g.201317729T>ACA344178612PKP1c.1004T>A (p.Val335Asp)
n.346T>A
c.1001T>A (p.Val334Asp)
1g.201317729T>CCA344178613PKP1c.1004T>C (p.Val335Ala)
n.346T>C
c.1001T>C (p.Val334Ala)
1g.201317729T>GCA344178615PKP1c.1004T>G (p.Val335Gly)
n.346T>G
c.1001T>G (p.Val334Gly)
1g.201317730C>ACA422716512PKP1c.1005C>A (p.Val335=)
n.347C>A
c.1002C>A (p.Val334=)
1g.201317730C>GCA422716513PKP1c.1005C>G (p.Val335=)
n.347C>G
c.1002C>G (p.Val334=)
1g.201317730C>TCA422716514PKP1c.1005C>T (p.Val335=)
n.347C>T
c.1002C>T (p.Val334=)
gnomAD v4
1g.201317731A>CCA344178618PKP1c.1006A>C (p.Ser336Arg)
n.348A>C
c.1003A>C (p.Ser335Arg)
1g.201317731A>GCA344178619PKP1c.1006A>G (p.Ser336Gly)
n.348A>G
c.1003A>G (p.Ser335Gly)
gnomAD v4
1g.201317731A>TCA344178620PKP1c.1006A>T (p.Ser336Cys)
n.348A>T
c.1003A>T (p.Ser335Cys)
1g.201317732G>ACA344178621PKP1c.1007G>A (p.Ser336Asn)
n.349G>A
c.1004G>A (p.Ser335Asn)
gnomAD v4
1g.201317732G>CCA344178624PKP1c.1007G>C (p.Ser336Thr)
n.349G>C
c.1004G>C (p.Ser335Thr)
1g.201317732G>TCA344178626PKP1c.1007G>T (p.Ser336Ile)
n.349G>T
c.1004G>T (p.Ser335Ile)
1g.201317733C>ACA344178628PKP1c.1008C>A (p.Ser336Arg)
n.350C>A
c.1005C>A (p.Ser335Arg)
1g.201317733C=CA1142232587PKP1c.1008C= (p.Ser336=)
n.350C=
c.1005C= (p.Ser335=)
1g.201317733C>GCA344178630PKP1c.1008C>G (p.Ser336Arg)
n.350C>G
c.1005C>G (p.Ser335Arg)
1g.201317733C>TCA1324268PKP1c.1008C>T (p.Ser336=)
n.350C>T
c.1005C>T (p.Ser335=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317734C>ACA344178636PKP1c.1009C>A (p.Leu337Ile)
n.351C>A
c.1006C>A (p.Leu336Ile)
1g.201317734C=CA1219691306PKP1c.1009C= (p.Leu337=)
n.351C=
c.1006C= (p.Leu336=)
1g.201317734C>GCA344178634PKP1c.1009C>G (p.Leu337Val)
n.351C>G
c.1006C>G (p.Leu336Val)
1g.201317734C>TCA344178632PKP1c.1009C>T (p.Leu337Phe)
n.351C>T
c.1006C>T (p.Leu336Phe)
dbSNP gnomAD v4
1g.201317735T>ACA344178638PKP1c.1010T>A (p.Leu337His)
n.352T>A
c.1007T>A (p.Leu336His)
1g.201317735T>CCA344178640PKP1c.1010T>C (p.Leu337Pro)
n.352T>C
c.1007T>C (p.Leu336Pro)
1g.201317735T>GCA344178641PKP1c.1010T>G (p.Leu337Arg)
n.352T>G
c.1007T>G (p.Leu336Arg)
1g.201317736C>ACA422716522PKP1c.1011C>A (p.Leu337=)
n.353C>A
c.1008C>A (p.Leu336=)
1g.201317736C>GCA422716523PKP1c.1011C>G (p.Leu337=)
n.353C>G
c.1008C>G (p.Leu336=)
1g.201317736C>TCA422716521PKP1c.1011C>T (p.Leu337=)
n.353C>T
c.1008C>T (p.Leu336=)
COSMIC COSMIC
1g.201317737C>ACA36036680PKP1c.1012C>A (p.Leu338Met)
n.354C>A
c.1009C>A (p.Leu337Met)
dbSNP
1g.201317737C=CA1140401344PKP1c.1012C= (p.Leu338=)
n.354C=
c.1009C= (p.Leu337=)
1g.201317737C>GCA344178644PKP1c.1012C>G (p.Leu338Val)
n.354C>G
c.1009C>G (p.Leu337Val)
1g.201317737C>TCA422716525PKP1c.1012C>T (p.Leu338=)
n.354C>T
c.1009C>T (p.Leu337=)
1g.201317738T>ACA344178646PKP1c.1013T>A (p.Leu338Gln)
n.355T>A
c.1010T>A (p.Leu337Gln)
1g.201317738T>CCA344178647PKP1c.1013T>C (p.Leu338Pro)
n.355T>C
c.1010T>C (p.Leu337Pro)
1g.201317738T>GCA344178649PKP1c.1013T>G (p.Leu338Arg)
n.355T>G
c.1010T>G (p.Leu337Arg)
1g.201317739G>ACA10609436PKP1c.1014G>A (p.Leu338=)
n.356G>A
c.1011G>A (p.Leu337=)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.201317739G>CCA422716527PKP1c.1014G>C (p.Leu338=)
n.356G>C
c.1011G>C (p.Leu337=)
1g.201317739G=CA1219691307PKP1c.1014G= (p.Leu338=)
n.356G=
c.1011G= (p.Leu337=)
1g.201317739G>TCA422716528PKP1c.1014G>T (p.Leu338=)
n.356G>T
c.1011G>T (p.Leu337=)
1g.201317740A>CCA422716529PKP1c.1015A>C (p.Arg339=)
n.357A>C
c.1012A>C (p.Arg338=)
1g.201317740A>GCA344178652PKP1c.1015A>G (p.Arg339Gly)
n.357A>G
c.1012A>G (p.Arg338Gly)
1g.201317740A>TCA344178654PKP1c.1015A>T (p.Arg339Trp)
n.357A>T
c.1012A>T (p.Arg338Trp)
1g.201317741G>ACA344178656PKP1c.1016G>A (p.Arg339Lys)
n.358G>A
c.1013G>A (p.Arg338Lys)
1g.201317741G>CCA344178658PKP1c.1016G>C (p.Arg339Thr)
n.358G>C
c.1013G>C (p.Arg338Thr)
1g.201317741G>TCA344178660PKP1c.1016G>T (p.Arg339Met)
n.358G>T
c.1013G>T (p.Arg338Met)
1g.201317742G>ACA422716533PKP1c.1017G>A (p.Arg339=)
n.359G>A
c.1014G>A (p.Arg338=)
gnomAD v4
1g.201317742G>CCA344178664PKP1c.1017G>C (p.Arg339Ser)
n.359G>C
c.1014G>C (p.Arg338Ser)
1g.201317742G>TCA344178662PKP1c.1017G>T (p.Arg339Ser)
n.359G>T
c.1014G>T (p.Arg338Ser)
1g.201317743A>CCA422716537PKP1c.1018A>C (p.Arg340=)
n.360A>C
c.1015A>C (p.Arg339=)
1g.201317743A>GCA344178666PKP1c.1018A>G (p.Arg340Gly)
n.360A>G
c.1015A>G (p.Arg339Gly)
1g.201317743A>TCA344178668PKP1c.1018A>T (p.Arg340Ter)
n.360A>T
c.1015A>T (p.Arg339Ter)
1g.201317744G>ACA344178670PKP1c.1019G>A (p.Arg340Lys)
n.361G>A
c.1016G>A (p.Arg339Lys)
gnomAD v4
1g.201317744G>CCA344178671PKP1c.1019G>C (p.Arg340Thr)
n.361G>C
c.1016G>C (p.Arg339Thr)
1g.201317744G>TCA344178673PKP1c.1019G>T (p.Arg340Ile)
n.361G>T
c.1016G>T (p.Arg339Ile)
gnomAD v4 COSMIC COSMIC
1g.201317745A>CCA344178675PKP1c.1020A>C (p.Arg340Ser)
n.362A>C
c.1017A>C (p.Arg339Ser)
1g.201317745A>GCA422716541PKP1c.1020A>G (p.Arg340=)
n.362A>G
c.1017A>G (p.Arg339=)
1g.201317745A>TCA344178677PKP1c.1020A>T (p.Arg340Ser)
n.362A>T
c.1017A>T (p.Arg339Ser)
COSMIC
1g.201317746A=CA1219691308PKP1c.1021A= (p.Thr341=)
n.363A=
c.1018A= (p.Thr340=)
1g.201317746A>CCA344178678PKP1c.1021A>C (p.Thr341Pro)
n.363A>C
c.1018A>C (p.Thr340Pro)
dbSNP
1g.201317746A>GCA344178680PKP1c.1021A>G (p.Thr341Ala)
n.363A>G
c.1018A>G (p.Thr340Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317746A>TCA344178679PKP1c.1021A>T (p.Thr341Ser)
n.363A>T
c.1018A>T (p.Thr340Ser)
1g.201317747C>ACA344178682PKP1c.1022C>A (p.Thr341Asn)
n.364C>A
c.1019C>A (p.Thr340Asn)
1g.201317747C=CA1219691309PKP1c.1022C= (p.Thr341=)
n.364C=
c.1019C= (p.Thr340=)
1g.201317747C>GCA344178684PKP1c.1022C>G (p.Thr341Ser)
n.364C>G
c.1019C>G (p.Thr340Ser)
dbSNP gnomAD v2 gnomAD v4
1g.201317747C>TCA36036683PKP1c.1022C>T (p.Thr341Ile)
n.364C>T
c.1019C>T (p.Thr340Ile)
dbSNP
1g.201317748C>ACA422716545PKP1c.1023C>A (p.Thr341=)
n.365C>A
c.1020C>A (p.Thr340=)
dbSNP
1g.201317748C=CA1143793563PKP1c.1023C= (p.Thr341=)
n.365C=
c.1020C= (p.Thr340=)
1g.201317748C>GCA422716548PKP1c.1023C>G (p.Thr341=)
n.365C>G
c.1020C>G (p.Thr340=)
1g.201317748C>TCA1324269PKP1c.1023C>T (p.Thr341=)
n.365C>T
c.1020C>T (p.Thr340=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.201317749G>ACA1324270PKP1c.1024G>A (p.Gly342Arg)
n.366G>A
c.1021G>A (p.Gly341Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317749G>CCA344178690PKP1c.1024G>C (p.Gly342Arg)
n.366G>C
c.1021G>C (p.Gly341Arg)
1g.201317749G=CA1144077021PKP1c.1024G= (p.Gly342=)
n.366G=
c.1021G= (p.Gly341=)
1g.201317749G>TCA344178689PKP1c.1024G>T (p.Gly342Trp)
n.366G>T
c.1021G>T (p.Gly341Trp)
1g.201317750G>ACA344178693PKP1c.1025G>A (p.Gly342Glu)
n.367G>A
c.1022G>A (p.Gly341Glu)
dbSNP gnomAD v3 gnomAD v4
1g.201317750G>CCA344178695PKP1c.1025G>C (p.Gly342Ala)
n.367G>C
c.1022G>C (p.Gly341Ala)
1g.201317750G=CA1219691310PKP1c.1025G= (p.Gly342=)
n.367G=
c.1022G= (p.Gly341=)
1g.201317750G>TCA344178696PKP1c.1025G>T (p.Gly342Val)
n.367G>T
c.1022G>T (p.Gly341Val)
gnomAD v4
1g.201317751G>ACA422716557PKP1c.1026G>A (p.Gly342=)
n.368G>A
c.1023G>A (p.Gly341=)
dbSNP gnomAD v3 gnomAD v4
1g.201317751G>CCA422716555PKP1c.1026G>C (p.Gly342=)
n.368G>C
c.1023G>C (p.Gly341=)
1g.201317751G=CA1219691311PKP1c.1026G= (p.Gly342=)
n.368G=
c.1023G= (p.Gly341=)
1g.201317751G>TCA422716556PKP1c.1026G>T (p.Gly342=)
n.368G>T
c.1023G>T (p.Gly341=)
1g.201317752A=CA1219691312PKP1c.1027A= (p.Asn343=)
n.369A=
c.1024A= (p.Asn342=)
1g.201317752A>CCA344178698PKP1c.1027A>C (p.Asn343His)
n.369A>C
c.1024A>C (p.Asn342His)
1g.201317752A>GCA344178700PKP1c.1027A>G (p.Asn343Asp)
n.369A>G
c.1024A>G (p.Asn342Asp)
dbSNP
1g.201317752A>TCA344178702PKP1c.1027A>T (p.Asn343Tyr)
n.369A>T
c.1024A>T (p.Asn342Tyr)
1g.201317753A>CCA344178703PKP1c.1028A>C (p.Asn343Thr)
n.370A>C
c.1025A>C (p.Asn342Thr)
1g.201317753A>GCA344178705PKP1c.1028A>G (p.Asn343Ser)
n.370A>G
c.1025A>G (p.Asn342Ser)
gnomAD v4
1g.201317753A>TCA344178708PKP1c.1028A>T (p.Asn343Ile)
n.370A>T
c.1025A>T (p.Asn342Ile)
1g.201317754C>ACA1324272PKP1c.1029C>A (p.Asn343Lys)
n.371C>A
c.1026C>A (p.Asn342Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317754C=CA1143594848PKP1c.1029C= (p.Asn343=)
n.371C=
c.1026C= (p.Asn342=)
1g.201317754C>GCA344178711PKP1c.1029C>G (p.Asn343Lys)
n.371C>G
c.1026C>G (p.Asn342Lys)
1g.201317754C>TCA1324271PKP1c.1029C>T (p.Asn343=)
n.371C>T
c.1026C>T (p.Asn342=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.201317755G>ACA1324273PKP1c.1030G>A (p.Ala344Thr)
n.372G>A
c.1027G>A (p.Ala343Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317755G>CCA344178713PKP1c.1030G>C (p.Ala344Pro)
n.372G>C
c.1027G>C (p.Ala343Pro)
1g.201317755G=CA1219691313PKP1c.1030G= (p.Ala344=)
n.372G=
c.1027G= (p.Ala343=)
1g.201317755G>TCA344178714PKP1c.1030G>T (p.Ala344Ser)
n.372G>T
c.1027G>T (p.Ala343Ser)
gnomAD v4
1g.201317756C>ACA344178717PKP1c.1031C>A (p.Ala344Asp)
n.373C>A
c.1028C>A (p.Ala343Asp)
1g.201317756C>GCA344178718PKP1c.1031C>G (p.Ala344Gly)
n.373C>G
c.1028C>G (p.Ala343Gly)
1g.201317756C>TCA344178720PKP1c.1031C>T (p.Ala344Val)
n.373C>T
c.1028C>T (p.Ala343Val)
1g.201317757C>ACA422716565PKP1c.1032C>A (p.Ala344=)
n.374C>A
c.1029C>A (p.Ala343=)
1g.201317757C=CA1219691314PKP1c.1032C= (p.Ala344=)
n.374C=
c.1029C= (p.Ala343=)
1g.201317757C>GCA422716567PKP1c.1032C>G (p.Ala344=)
n.374C>G
c.1029C>G (p.Ala343=)
ClinVar
1g.201317757C>TCA36036690PKP1c.1032C>T (p.Ala344=)
n.374C>T
c.1029C>T (p.Ala343=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317758G>ACA1324274PKP1c.1033G>A (p.Glu345Lys)
n.375G>A
c.1030G>A (p.Glu344Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317758G>CCA344178723PKP1c.1033G>C (p.Glu345Gln)
n.375G>C
c.1030G>C (p.Glu344Gln)
1g.201317758G=CA1219691315PKP1c.1033G= (p.Glu345=)
n.375G=
c.1030G= (p.Glu344=)
1g.201317758G>TCA344178725PKP1c.1033G>T (p.Glu345Ter)
n.375G>T
c.1030G>T (p.Glu344Ter)
dbSNP
1g.201317759A>CCA344178727PKP1c.1034A>C (p.Glu345Ala)
n.376A>C
c.1031A>C (p.Glu344Ala)
1g.201317759A>GCA344178729PKP1c.1034A>G (p.Glu345Gly)
n.376A>G
c.1031A>G (p.Glu344Gly)
1g.201317759A>TCA344178730PKP1c.1034A>T (p.Glu345Val)
n.376A>T
c.1031A>T (p.Glu344Val)
1g.201317760G>ACA422716568PKP1c.1035G>A (p.Glu345=)
n.377G>A
c.1032G>A (p.Glu344=)
1g.201317760G>CCA344178732PKP1c.1035G>C (p.Glu345Asp)
n.377G>C
c.1032G>C (p.Glu344Asp)
1g.201317760G=CA1219691316PKP1c.1035G= (p.Glu345=)
n.377G=
c.1032G= (p.Glu344=)
1g.201317760G>TCA1324275PKP1c.1035G>T (p.Glu345Asp)
n.377G>T
c.1032G>T (p.Glu344Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317761A>CCA344178739PKP1c.1036A>C (p.Ile346Leu)
n.378A>C
c.1033A>C (p.Ile345Leu)
1g.201317761A>GCA344178738PKP1c.1036A>G (p.Ile346Val)
n.378A>G
c.1033A>G (p.Ile345Val)
1g.201317761A>TCA344178736PKP1c.1036A>T (p.Ile346Phe)
n.378A>T
c.1033A>T (p.Ile345Phe)
1g.201317762T>ACA344178740PKP1c.1037T>A (p.Ile346Asn)
n.379T>A
c.1034T>A (p.Ile345Asn)
1g.201317762T>CCA344178744PKP1c.1037T>C (p.Ile346Thr)
n.379T>C
c.1034T>C (p.Ile345Thr)
1g.201317762T>GCA344178742PKP1c.1037T>G (p.Ile346Ser)
n.379T>G
c.1034T>G (p.Ile345Ser)
1g.201317763C>ACA422716576PKP1c.1038C>A (p.Ile346=)
n.380C>A
c.1035C>A (p.Ile345=)
gnomAD v4
1g.201317763C>GCA344178745PKP1c.1038C>G (p.Ile346Met)
n.380C>G
c.1035C>G (p.Ile345Met)
1g.201317763C>TCA422716578PKP1c.1038C>T (p.Ile346=)
n.380C>T
c.1035C>T (p.Ile345=)
1g.201317764C>ACA344178747PKP1c.1039C>A (p.Gln347Lys)
n.381C>A
c.1036C>A (p.Gln346Lys)
1g.201317764C>GCA344178746PKP1c.1039C>G (p.Gln347Glu)
n.381C>G
c.1036C>G (p.Gln346Glu)
1g.201317764C>TCA344178749PKP1c.1039C>T (p.Gln347Ter)
n.381C>T
c.1036C>T (p.Gln346Ter)
1g.201317765A>CCA344178751PKP1c.1040A>C (p.Gln347Pro)
n.382A>C
c.1037A>C (p.Gln346Pro)
1g.201317765A>GCA344178755PKP1c.1040A>G (p.Gln347Arg)
n.382A>G
c.1037A>G (p.Gln346Arg)
1g.201317765A>TCA344178753PKP1c.1040A>T (p.Gln347Leu)
n.382A>T
c.1037A>T (p.Gln346Leu)
1g.201317766G>ACA1324276PKP1c.1041G>A (p.Gln347=)
n.383G>A
c.1038G>A (p.Gln346=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.201317766G>CCA344178758PKP1c.1041G>C (p.Gln347His)
n.383G>C
c.1038G>C (p.Gln346His)
1g.201317766G=CA1219691317PKP1c.1041G= (p.Gln347=)
n.383G=
c.1038G= (p.Gln346=)
1g.201317766G>TCA344178760PKP1c.1041G>T (p.Gln347His)
n.383G>T
c.1038G>T (p.Gln346His)
1g.201317767A>CCA344178762PKP1c.1042A>C (p.Lys348Gln)
n.384A>C
c.1039A>C (p.Lys347Gln)
1g.201317767A>GCA344178763PKP1c.1042A>G (p.Lys348Glu)
n.384A>G
c.1039A>G (p.Lys347Glu)
1g.201317767A>TCA344178765PKP1c.1042A>T (p.Lys348Ter)
n.384A>T
c.1039A>T (p.Lys347Ter)
1g.201317768A>CCA344178767PKP1c.1043A>C (p.Lys348Thr)
n.385A>C
c.1040A>C (p.Lys347Thr)
1g.201317768A>GCA344178769PKP1c.1043A>G (p.Lys348Arg)
n.385A>G
c.1040A>G (p.Lys347Arg)
gnomAD v4
1g.201317768A>TCA344178770PKP1c.1043A>T (p.Lys348Met)
n.385A>T
c.1040A>T (p.Lys347Met)
1g.201317769G>ACA422716583PKP1c.1044G>A (p.Lys348=)
n.386G>A
c.1041G>A (p.Lys347=)
1g.201317769G>CCA344178771PKP1c.1044G>C (p.Lys348Asn)
n.386G>C
c.1041G>C (p.Lys347Asn)
1g.201317769G>TCA344178773PKP1c.1044G>T (p.Lys348Asn)
n.386G>T
c.1041G>T (p.Lys347Asn)
1g.201317770C>ACA344178778PKP1c.1045C>A (p.Gln349Lys)
n.387C>A
c.1042C>A (p.Gln348Lys)
dbSNP gnomAD v3 gnomAD v4
1g.201317770C=CA1219691318PKP1c.1045C= (p.Gln349=)
n.387C=
c.1042C= (p.Gln348=)
1g.201317770C>GCA344178776PKP1c.1045C>G (p.Gln349Glu)
n.387C>G
c.1042C>G (p.Gln348Glu)
1g.201317770C>TCA344178775PKP1c.1045C>T (p.Gln349Ter)
n.387C>T
c.1042C>T (p.Gln348Ter)
1g.201317771A>CCA344178780PKP1c.1046A>C (p.Gln349Pro)
n.388A>C
c.1043A>C (p.Gln348Pro)
1g.201317771A>GCA344178782PKP1c.1046A>G (p.Gln349Arg)
n.388A>G
c.1043A>G (p.Gln348Arg)
1g.201317771A>TCA344178784PKP1c.1046A>T (p.Gln349Leu)
n.388A>T
c.1043A>T (p.Gln348Leu)
gnomAD v4
1g.201317772G>ACA1324277PKP1c.1047G>A (p.Gln349=)
n.389G>A
c.1044G>A (p.Gln348=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.201317772G>CCA344178787PKP1c.1047G>C (p.Gln349His)
n.389G>C
c.1044G>C (p.Gln348His)
1g.201317772G=CA1219691319PKP1c.1047G= (p.Gln349=)
n.389G=
c.1044G= (p.Gln348=)
1g.201317772G>TCA344178789PKP1c.1047G>T (p.Gln349His)
n.389G>T
c.1044G>T (p.Gln348His)
gnomAD v4
1g.201317773C>ACA344178791PKP1c.1048C>A (p.Leu350Met)
n.390C>A
c.1045C>A (p.Leu349Met)
gnomAD v4
1g.201317773C=CA1219691320PKP1c.1048C= (p.Leu350=)
n.390C=
c.1045C= (p.Leu349=)
1g.201317773C>GCA344178793PKP1c.1048C>G (p.Leu350Val)
n.390C>G
c.1045C>G (p.Leu349Val)
1g.201317773C>TCA422716587PKP1c.1048C>T (p.Leu350=)
n.390C>T
c.1045C>T (p.Leu349=)
1g.201317774T>ACA344178795PKP1c.1049T>A (p.Leu350Gln)
n.391T>A
c.1046T>A (p.Leu349Gln)
1g.201317774T>CCA344178796PKP1c.1049T>C (p.Leu350Pro)
n.391T>C
c.1046T>C (p.Leu349Pro)
1g.201317774T>GCA344178798PKP1c.1049T>G (p.Leu350Arg)
n.391T>G
c.1046T>G (p.Leu349Arg)
1g.201317774_201317775insTTTTTCA528537231PKP1c.1049_1050insTTTTT (p.Thr351PhefsTer2)
n.391_392insTTTTT
c.1046_1047insTTTTT (p.Thr350PhefsTer2)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317775G>ACA422716593PKP1c.1050G>A (p.Leu350=)
n.392G>A
c.1047G>A (p.Leu349=)
1g.201317775G>CCA422716590PKP1c.1050G>C (p.Leu350=)
n.392G>C
c.1047G>C (p.Leu349=)
1g.201317775G=CA1219691321PKP1c.1050G= (p.Leu350=)
n.392G=
c.1047G= (p.Leu349=)
1g.201317775G>TCA422716591PKP1c.1050G>T (p.Leu350=)
n.392G>T
c.1047G>T (p.Leu349=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317776A>CCA344178804PKP1c.1051A>C (p.Thr351Pro)
n.393A>C
c.1048A>C (p.Thr350Pro)
1g.201317776A>GCA344178802PKP1c.1051A>G (p.Thr351Ala)
n.393A>G
c.1048A>G (p.Thr350Ala)
1g.201317776A>TCA344178800PKP1c.1051A>T (p.Thr351Ser)
n.393A>T
c.1048A>T (p.Thr350Ser)
gnomAD v3 gnomAD v4
1g.201317777C>ACA344178806PKP1c.1052C>A (p.Thr351Asn)
n.394C>A
c.1049C>A (p.Thr350Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317777C=CA1219691322PKP1c.1052C= (p.Thr351=)
n.394C=
c.1049C= (p.Thr350=)
1g.201317777C>GCA344178807PKP1c.1052C>G (p.Thr351Ser)
n.394C>G
c.1049C>G (p.Thr350Ser)
gnomAD v4
1g.201317777C>TCA344178809PKP1c.1052C>T (p.Thr351Ile)
n.394C>T
c.1049C>T (p.Thr350Ile)
dbSNP gnomAD v2
1g.201317778T>ACA422716600PKP1c.1053T>A (p.Thr351=)
n.395T>A
c.1050T>A (p.Thr350=)
1g.201317778T>CCA422716601PKP1c.1053T>C (p.Thr351=)
n.395T>C
c.1050T>C (p.Thr350=)
1g.201317778T>GCA422716603PKP1c.1053T>G (p.Thr351=)
n.395T>G
c.1050T>G (p.Thr350=)
1g.201317778_201317780delinsAGTCA2586967914PKP1c.1053_1054+1delinsAGT
n.395_396+1delinsAGT
c.1050_1051+1delinsAGT
1g.201317779G>ACA344178812PKP1c.1054G>A (p.Gly352Arg)
n.396G>A
c.1051G>A (p.Gly351Arg)
1g.201317779G>CCA344178813PKP1c.1054G>C (p.Gly352Arg)
n.396G>C
c.1051G>C (p.Gly351Arg)
1g.201317779G>TCA344178815PKP1c.1054G>T (p.Gly352Trp)
n.396G>T
c.1051G>T (p.Gly351Trp)
1g.201317781_201317784dupCA2649779882PKP1c.1054+2_1054+5dup
n.396+2_396+5dup
c.1051+2_1051+5dup
gnomAD v4
1g.201317780G>ACA344178817PKP1c.1054+1G>A (n.1054+1G>A)
n.396+1G>A
c.1051+1G>A (n.1051+1G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.201317780G>CCA344178819PKP1c.1054+1G>C (n.1054+1G>C)
n.396+1G>C
c.1051+1G>C (n.1051+1G>C)
1g.201317780G=CA1219691323PKP1c.1054+1G= (n.1054+1G=)
n.396+1G=
c.1051+1G= (n.1051+1G=)
1g.201317780G>TCA344178822PKP1c.1054+1G>T (n.1054+1G>T)
n.396+1G>T
c.1051+1G>T (n.1051+1G>T)
1g.201317781T>ACA344178824PKP1c.1054+2T>A (n.1054+2T>A)
n.396+2T>A
c.1051+2T>A (n.1051+2T>A)
1g.201317781T>CCA344178826PKP1c.1054+2T>C (n.1054+2T>C)
n.396+2T>C
c.1051+2T>C (n.1051+2T>C)
gnomAD v4
1g.201317781T>GCA344178828PKP1c.1054+2T>G (n.1054+2T>G)
n.396+2T>G
c.1051+2T>G (n.1051+2T>G)

Number of alleles fetched