Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7984955dupCA2574198761PARK7c.471dup (p.Pro158AlafsTer13)
c.411dup (p.Pro138AlafsTer13)
c.384dup (p.Pro129AlafsTer13)
1g.7984954_7984957delinsGGCCCA1152147485PARK7c.470_473delinsGGCC (p.Gly157=)
c.410_413delinsGGCC (p.Gly137=)
c.383_386delinsGGCC (p.Gly128=)
1g.7984955G>ACA415839089PARK7c.471G>A (p.Gly157=)
c.411G>A (p.Gly137=)
c.384G>A (p.Gly128=)
1g.7984955G>CCA415839086PARK7c.471G>C (p.Gly157=)
c.411G>C (p.Gly137=)
c.384G>C (p.Gly128=)
1g.7984955G>TCA415839088PARK7c.471G>T (p.Gly157=)
c.411G>T (p.Gly137=)
c.384G>T (p.Gly128=)
1g.7984955_7984957delCA569630PARK7c.471_473del (p.Pro158del)
c.411_413del (p.Pro138del)
c.384_386del (p.Pro129del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984956C>ACA338167121PARK7c.472C>A (p.Pro158Thr)
c.412C>A (p.Pro138Thr)
c.385C>A (p.Pro129Thr)
1g.7984956C=CA1152147497PARK7c.472C= (p.Pro158=)
c.412C= (p.Pro138=)
c.385C= (p.Pro129=)
1g.7984956C>GCA338167122PARK7c.472C>G (p.Pro158Ala)
c.412C>G (p.Pro138Ala)
c.385C>G (p.Pro129Ala)
1g.7984956C>TCA338167123PARK7c.472C>T (p.Pro158Ser)
c.412C>T (p.Pro138Ser)
c.385C>T (p.Pro129Ser)
 dbSNP
1g.7984956_7984958delCA338167124PARK7c.472_474del (p.Pro158del)
c.412_414del (p.Pro138del)
c.385_387del (p.Pro129del)
1g.7984957C>ACA338167125PARK7c.473C>A (p.Pro158His)
c.413C>A (p.Pro138His)
c.386C>A (p.Pro129His)
1g.7984957C>GCA338167126PARK7c.473C>G (p.Pro158Arg)
c.413C>G (p.Pro138Arg)
c.386C>G (p.Pro129Arg)
1g.7984957C>TCA338167127PARK7c.473C>T (p.Pro158Leu)
c.413C>T (p.Pro138Leu)
c.386C>T (p.Pro129Leu)
1g.7984958T>ACA415839093PARK7c.474T>A (p.Pro158=)
c.414T>A (p.Pro138=)
c.387T>A (p.Pro129=)
1g.7984958T>CCA569631PARK7c.474T>C (p.Pro158=)
c.414T>C (p.Pro138=)
c.387T>C (p.Pro129=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984958T>GCA415839094PARK7c.474T>G (p.Pro158=)
c.414T>G (p.Pro138=)
c.387T>G (p.Pro129=)
1g.7984958T=CA1152147502PARK7c.474T= (p.Pro158=)
c.414T= (p.Pro138=)
c.387T= (p.Pro129=)
1g.7984959G>ACA338167128PARK7c.475G>A (p.Gly159Arg)
c.415G>A (p.Gly139Arg)
c.388G>A (p.Gly130Arg)
1g.7984959G>CCA338167129PARK7c.475G>C (p.Gly159Arg)
c.415G>C (p.Gly139Arg)
c.388G>C (p.Gly130Arg)
1g.7984959G>TCA338167130PARK7c.475G>T (p.Gly159Trp)
c.415G>T (p.Gly139Trp)
c.388G>T (p.Gly130Trp)
1g.7984960G>ACA338167132PARK7c.476G>A (p.Gly159Glu)
c.416G>A (p.Gly139Glu)
c.389G>A (p.Gly130Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.7984960G>CCA338167133PARK7c.476G>C (p.Gly159Ala)
c.416G>C (p.Gly139Ala)
c.389G>C (p.Gly130Ala)
1g.7984960G=CA1152147509PARK7c.476G= (p.Gly159=)
c.416G= (p.Gly139=)
c.389G= (p.Gly130=)
1g.7984960G>TCA338167131PARK7c.476G>T (p.Gly159Val)
c.416G>T (p.Gly139Val)
c.389G>T (p.Gly130Val)
1g.7984961G>ACA415839099PARK7c.477G>A (p.Gly159=)
c.417G>A (p.Gly139=)
c.390G>A (p.Gly130=)
 gnomAD v4
1g.7984961G>CCA415839100PARK7c.477G>C (p.Gly159=)
c.417G>C (p.Gly139=)
c.390G>C (p.Gly130=)
1g.7984961G>TCA415839101PARK7c.477G>T (p.Gly159=)
c.417G>T (p.Gly139=)
c.390G>T (p.Gly130=)
1g.7984962A=CA1152147517PARK7c.478A= (p.Thr160=)
c.418A= (p.Thr140=)
c.391A= (p.Thr131=)
1g.7984962A>CCA338167134PARK7c.478A>C (p.Thr160Pro)
c.418A>C (p.Thr140Pro)
c.391A>C (p.Thr131Pro)
1g.7984962A>GCA338167135PARK7c.478A>G (p.Thr160Ala)
c.418A>G (p.Thr140Ala)
c.391A>G (p.Thr131Ala)
1g.7984962A>TCA17286814PARK7c.478A>T (p.Thr160Ser)
c.418A>T (p.Thr140Ser)
c.391A>T (p.Thr131Ser)
 dbSNP
1g.7984963C>ACA338167136PARK7c.479C>A (p.Thr160Asn)
c.419C>A (p.Thr140Asn)
c.392C>A (p.Thr131Asn)
1g.7984963C=CA1152147520PARK7c.479C= (p.Thr160=)
c.419C= (p.Thr140=)
c.392C= (p.Thr131=)
1g.7984963C>GCA338167137PARK7c.479C>G (p.Thr160Ser)
c.419C>G (p.Thr140Ser)
c.392C>G (p.Thr131Ser)
 dbSNP gnomAD v4
1g.7984963C>TCA338167138PARK7c.479C>T (p.Thr160Ile)
c.419C>T (p.Thr140Ile)
c.392C>T (p.Thr131Ile)
1g.7984964C>ACA569632PARK7c.480C>A (p.Thr160=)
c.420C>A (p.Thr140=)
c.393C>A (p.Thr131=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984964C=CA1143720450PARK7c.480C= (p.Thr160=)
c.420C= (p.Thr140=)
c.393C= (p.Thr131=)
1g.7984964C>GCA415839104PARK7c.480C>G (p.Thr160=)
c.420C>G (p.Thr140=)
c.393C>G (p.Thr131=)
1g.7984964C>TCA17286815PARK7c.480C>T (p.Thr160=)
c.420C>T (p.Thr140=)
c.393C>T (p.Thr131=)
 dbSNP
1g.7984965A>CCA338167139PARK7c.481A>C (p.Ser161Arg)
c.421A>C (p.Ser141Arg)
c.394A>C (p.Ser132Arg)
1g.7984965A>GCA338167140PARK7c.481A>G (p.Ser161Gly)
c.421A>G (p.Ser141Gly)
c.394A>G (p.Ser132Gly)
1g.7984965A>TCA338167141PARK7c.481A>T (p.Ser161Cys)
c.421A>T (p.Ser141Cys)
c.394A>T (p.Ser132Cys)
1g.7984966G>ACA338167142PARK7c.482G>A (p.Ser161Asn)
c.422G>A (p.Ser141Asn)
c.395G>A (p.Ser132Asn)
1g.7984966G>CCA338167143PARK7c.482G>C (p.Ser161Thr)
c.422G>C (p.Ser141Thr)
c.395G>C (p.Ser132Thr)
 ClinVar gnomAD v4
1g.7984966G>TCA338167144PARK7c.482G>T (p.Ser161Ile)
c.422G>T (p.Ser141Ile)
c.395G>T (p.Ser132Ile)
1g.7984967C>ACA338167146PARK7c.483C>A (p.Ser161Arg)
c.423C>A (p.Ser141Arg)
c.396C>A (p.Ser132Arg)
1g.7984967C=CA1152147531PARK7c.483C= (p.Ser161=)
c.423C= (p.Ser141=)
c.396C= (p.Ser132=)
1g.7984967C>GCA338167145PARK7c.483C>G (p.Ser161Arg)
c.423C>G (p.Ser141Arg)
c.396C>G (p.Ser132Arg)
1g.7984967C>TCA415839109PARK7c.483C>T (p.Ser161=)
c.423C>T (p.Ser141=)
c.396C>T (p.Ser132=)
 dbSNP
1g.7984968T>ACA338167147PARK7c.484T>A (p.Phe162Ile)
c.424T>A (p.Phe142Ile)
c.397T>A (p.Phe133Ile)
1g.7984968T>CCA338167148PARK7c.484T>C (p.Phe162Leu)
c.424T>C (p.Phe142Leu)
c.397T>C (p.Phe133Leu)
 gnomAD v4
1g.7984968T>GCA338167149PARK7c.484T>G (p.Phe162Val)
c.424T>G (p.Phe142Val)
c.397T>G (p.Phe133Val)
1g.7984969T>ACA338167150PARK7c.485T>A (p.Phe162Tyr)
c.425T>A (p.Phe142Tyr)
c.398T>A (p.Phe133Tyr)
1g.7984969T>CCA338167151PARK7c.485T>C (p.Phe162Ser)
c.425T>C (p.Phe142Ser)
c.398T>C (p.Phe133Ser)
 gnomAD v4
1g.7984969T>GCA338167152PARK7c.485T>G (p.Phe162Cys)
c.425T>G (p.Phe142Cys)
c.398T>G (p.Phe133Cys)
1g.7984970C>ACA338167154PARK7c.486C>A (p.Phe162Leu)
c.426C>A (p.Phe142Leu)
c.399C>A (p.Phe133Leu)
1g.7984970C=CA1152147540PARK7c.486C= (p.Phe162=)
c.426C= (p.Phe142=)
c.399C= (p.Phe133=)
1g.7984970C>GCA338167153PARK7c.486C>G (p.Phe162Leu)
c.426C>G (p.Phe142Leu)
c.399C>G (p.Phe133Leu)
1g.7984970C>TCA569633PARK7c.486C>T (p.Phe162=)
c.426C>T (p.Phe142=)
c.399C>T (p.Phe133=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.7984971G>ACA030200PARK7c.487G>A (p.Glu163Lys)
c.427G>A (p.Glu143Lys)
c.400G>A (p.Glu134Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984971G>CCA338167155PARK7c.487G>C (p.Glu163Gln)
c.427G>C (p.Glu143Gln)
c.400G>C (p.Glu134Gln)
 dbSNP gnomAD v4
1g.7984971G=CA1140886317PARK7c.487G= (p.Glu163=)
c.427G= (p.Glu143=)
c.400G= (p.Glu134=)
1g.7984971G>TCA338167156PARK7c.487G>T (p.Glu163Ter)
c.427G>T (p.Glu143Ter)
c.400G>T (p.Glu134Ter)
1g.7984972A>CCA338167157PARK7c.488A>C (p.Glu163Ala)
c.428A>C (p.Glu143Ala)
c.401A>C (p.Glu134Ala)
1g.7984972A>GCA338167158PARK7c.488A>G (p.Glu163Gly)
c.428A>G (p.Glu143Gly)
c.401A>G (p.Glu134Gly)
1g.7984972A>TCA338167159PARK7c.488A>T (p.Glu163Val)
c.428A>T (p.Glu143Val)
c.401A>T (p.Glu134Val)
1g.7984973G>ACA569634PARK7c.489G>A (p.Glu163=)
c.429G>A (p.Glu143=)
c.402G>A (p.Glu134=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984973G>CCA338167161PARK7c.489G>C (p.Glu163Asp)
c.429G>C (p.Glu143Asp)
c.402G>C (p.Glu134Asp)
1g.7984973G=CA1152147553PARK7c.489G= (p.Glu163=)
c.429G= (p.Glu143=)
c.402G= (p.Glu134=)
1g.7984973G>TCA338167160PARK7c.489G>T (p.Glu163Asp)
c.429G>T (p.Glu143Asp)
c.402G>T (p.Glu134Asp)
1g.7984974T>ACA338167163PARK7c.490T>A (p.Phe164Ile)
c.430T>A (p.Phe144Ile)
c.403T>A (p.Phe135Ile)
1g.7984974T>CCA338167162PARK7c.490T>C (p.Phe164Leu)
c.430T>C (p.Phe144Leu)
c.403T>C (p.Phe135Leu)
 gnomAD v4
1g.7984974T>GCA338167164PARK7c.490T>G (p.Phe164Val)
c.430T>G (p.Phe144Val)
c.403T>G (p.Phe135Val)
1g.7984975T>ACA338167165PARK7c.491T>A (p.Phe164Tyr)
c.431T>A (p.Phe144Tyr)
c.404T>A (p.Phe135Tyr)
1g.7984975T>CCA338167167PARK7c.491T>C (p.Phe164Ser)
c.431T>C (p.Phe144Ser)
c.404T>C (p.Phe135Ser)
1g.7984975T>GCA338167166PARK7c.491T>G (p.Phe164Cys)
c.431T>G (p.Phe144Cys)
c.404T>G (p.Phe135Cys)
 COSMIC
1g.7984976T>ACA338167168PARK7c.492T>A (p.Phe164Leu)
c.432T>A (p.Phe144Leu)
c.405T>A (p.Phe135Leu)
1g.7984976T>CCA415839117PARK7c.492T>C (p.Phe164=)
c.432T>C (p.Phe144=)
c.405T>C (p.Phe135=)
1g.7984976T>GCA569635PARK7c.492T>G (p.Phe164Leu)
c.432T>G (p.Phe144Leu)
c.405T>G (p.Phe135Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984976T=CA1152147560PARK7c.492T= (p.Phe164=)
c.432T= (p.Phe144=)
c.405T= (p.Phe135=)
1g.7984977G>ACA338167169PARK7c.493G>A (p.Ala165Thr)
c.433G>A (p.Ala145Thr)
c.406G>A (p.Ala136Thr)
1g.7984977G>CCA338167171PARK7c.493G>C (p.Ala165Pro)
c.433G>C (p.Ala145Pro)
c.406G>C (p.Ala136Pro)
1g.7984977G>TCA338167170PARK7c.493G>T (p.Ala165Ser)
c.433G>T (p.Ala145Ser)
c.406G>T (p.Ala136Ser)
1g.7984978C>ACA338167172PARK7c.494C>A (p.Ala165Glu)
c.434C>A (p.Ala145Glu)
c.407C>A (p.Ala136Glu)
1g.7984978C=CA1143800528PARK7c.494C= (p.Ala165=)
c.434C= (p.Ala145=)
c.407C= (p.Ala136=)
1g.7984978C>GCA338167173PARK7c.494C>G (p.Ala165Gly)
c.434C>G (p.Ala145Gly)
c.407C>G (p.Ala136Gly)
1g.7984978C>TCA569636PARK7c.494C>T (p.Ala165Val)
c.434C>T (p.Ala145Val)
c.407C>T (p.Ala136Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7984979G>ACA569637PARK7c.495G>A (p.Ala165=)
c.435G>A (p.Ala145=)
c.408G>A (p.Ala136=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984979G>CCA415839120PARK7c.495G>C (p.Ala165=)
c.435G>C (p.Ala145=)
c.408G>C (p.Ala136=)
 gnomAD v4
1g.7984979G=CA1152147563PARK7c.495G= (p.Ala165=)
c.435G= (p.Ala145=)
c.408G= (p.Ala136=)
1g.7984979G>TCA569638PARK7c.495G>T (p.Ala165=)
c.435G>T (p.Ala145=)
c.408G>T (p.Ala136=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984980C>ACA338167174PARK7c.496C>A (p.Leu166Ile)
c.436C>A (p.Leu146Ile)
c.409C>A (p.Leu137Ile)
1g.7984980C>GCA338167175PARK7c.496C>G (p.Leu166Val)
c.436C>G (p.Leu146Val)
c.409C>G (p.Leu137Val)
1g.7984980C>TCA338167176PARK7c.496C>T (p.Leu166Phe)
c.436C>T (p.Leu146Phe)
c.409C>T (p.Leu137Phe)
1g.7984981T>ACA338167177PARK7c.497T>A (p.Leu166His)
c.437T>A (p.Leu146His)
c.410T>A (p.Leu137His)
1g.7984981T>CCA254090PARK7c.497T>C (p.Leu166Pro)
c.437T>C (p.Leu146Pro)
c.410T>C (p.Leu137Pro)
 ClinVar dbSNP
1g.7984981T>GCA338167178PARK7c.497T>G (p.Leu166Arg)
c.437T>G (p.Leu146Arg)
c.410T>G (p.Leu137Arg)
1g.7984981T=CA1140495402PARK7c.497T= (p.Leu166=)
c.437T= (p.Leu146=)
c.410T= (p.Leu137=)
1g.7984982T>ACA415839122PARK7c.498T>A (p.Leu166=)
c.438T>A (p.Leu146=)
c.411T>A (p.Leu137=)
1g.7984982T>CCA415839123PARK7c.498T>C (p.Leu166=)
c.438T>C (p.Leu146=)
c.411T>C (p.Leu137=)
 dbSNP gnomAD v2 gnomAD v4
1g.7984982T>GCA415839124PARK7c.498T>G (p.Leu166=)
c.438T>G (p.Leu146=)
c.411T>G (p.Leu137=)
1g.7984982T=CA1152147574PARK7c.498T= (p.Leu166=)
c.438T= (p.Leu146=)
c.411T= (p.Leu137=)
1g.7984983G>ACA569639PARK7c.499G>A (p.Ala167Thr)
c.439G>A (p.Ala147Thr)
c.412G>A (p.Ala138Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984983G>CCA338167180PARK7c.499G>C (p.Ala167Pro)
c.439G>C (p.Ala147Pro)
c.412G>C (p.Ala138Pro)
1g.7984983G=CA1148731310PARK7c.499G= (p.Ala167=)
c.439G= (p.Ala147=)
c.412G= (p.Ala138=)
1g.7984983G>TCA338167179PARK7c.499G>T (p.Ala167Ser)
c.439G>T (p.Ala147Ser)
c.412G>T (p.Ala138Ser)
1g.7984983dupCA739208571PARK7c.499dup (p.Ala167GlyfsTer4)
c.439dup (p.Ala147GlyfsTer4)
c.412dup (p.Ala138GlyfsTer4)
 dbSNP gnomAD v4
1g.7984984C>ACA338167181PARK7c.500C>A (p.Ala167Glu)
c.440C>A (p.Ala147Glu)
c.413C>A (p.Ala138Glu)
1g.7984984C=CA1152147578PARK7c.500C= (p.Ala167=)
c.440C= (p.Ala147=)
c.413C= (p.Ala138=)
1g.7984984C>GCA10611663PARK7c.500C>G (p.Ala167Gly)
c.440C>G (p.Ala147Gly)
c.413C>G (p.Ala138Gly)
 ClinVar dbSNP gnomAD v4
1g.7984984C>TCA338167182PARK7c.500C>T (p.Ala167Val)
c.440C>T (p.Ala147Val)
c.413C>T (p.Ala138Val)
 dbSNP gnomAD v2 gnomAD v4
1g.7984985A=CA1140795497PARK7c.501A= (p.Ala167=)
c.441A= (p.Ala147=)
c.414A= (p.Ala138=)
1g.7984985A>CCA415839125PARK7c.501A>C (p.Ala167=)
c.441A>C (p.Ala147=)
c.414A>C (p.Ala138=)
 gnomAD v4
1g.7984985A>GCA569640PARK7c.501A>G (p.Ala167=)
c.441A>G (p.Ala147=)
c.414A>G (p.Ala138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984985A>TCA415839127PARK7c.501A>T (p.Ala167=)
c.441A>T (p.Ala147=)
c.414A>T (p.Ala138=)
1g.7984986A=CA1144028789PARK7c.502A= (p.Ile168=)
c.442A= (p.Ile148=)
c.415A= (p.Ile139=)
1g.7984986A>CCA338167183PARK7c.502A>C (p.Ile168Leu)
c.442A>C (p.Ile148Leu)
c.415A>C (p.Ile139Leu)
1g.7984986A>GCA569641PARK7c.502A>G (p.Ile168Val)
c.442A>G (p.Ile148Val)
c.415A>G (p.Ile139Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984986A>TCA338167184PARK7c.502A>T (p.Ile168Phe)
c.442A>T (p.Ile148Phe)
c.415A>T (p.Ile139Phe)
1g.7984987T>ACA338167185PARK7c.503T>A (p.Ile168Asn)
c.443T>A (p.Ile148Asn)
c.416T>A (p.Ile139Asn)
1g.7984987T>CCA338167186PARK7c.503T>C (p.Ile168Thr)
c.443T>C (p.Ile148Thr)
c.416T>C (p.Ile139Thr)
1g.7984987T>GCA338167187PARK7c.503T>G (p.Ile168Ser)
c.443T>G (p.Ile148Ser)
c.416T>G (p.Ile139Ser)
1g.7984988T>ACA415839132PARK7c.504T>A (p.Ile168=)
c.444T>A (p.Ile148=)
c.417T>A (p.Ile139=)
1g.7984988T>CCA415839133PARK7c.504T>C (p.Ile168=)
c.444T>C (p.Ile148=)
c.417T>C (p.Ile139=)
1g.7984988T>GCA338167188PARK7c.504T>G (p.Ile168Met)
c.444T>G (p.Ile148Met)
c.417T>G (p.Ile139Met)
1g.7984989G>ACA338167191PARK7c.505G>A (p.Val169Ile)
c.445G>A (p.Val149Ile)
c.418G>A (p.Val140Ile)
1g.7984989G>CCA338167190PARK7c.505G>C (p.Val169Leu)
c.445G>C (p.Val149Leu)
c.418G>C (p.Val140Leu)
1g.7984989G>TCA338167189PARK7c.505G>T (p.Val169Phe)
c.445G>T (p.Val149Phe)
c.418G>T (p.Val140Phe)
 ClinVar dbSNP
1g.7984990T>ACA338167192PARK7c.506T>A (p.Val169Asp)
c.446T>A (p.Val149Asp)
c.419T>A (p.Val140Asp)
1g.7984990T>CCA338167193PARK7c.506T>C (p.Val169Ala)
c.446T>C (p.Val149Ala)
c.419T>C (p.Val140Ala)
1g.7984990T>GCA338167194PARK7c.506T>G (p.Val169Gly)
c.446T>G (p.Val149Gly)
c.419T>G (p.Val140Gly)
1g.7984991T>ACA415839138PARK7c.507T>A (p.Val169=)
c.447T>A (p.Val149=)
c.420T>A (p.Val140=)
1g.7984991T>CCA569642PARK7c.507T>C (p.Val169=)
c.447T>C (p.Val149=)
c.420T>C (p.Val140=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984991T>GCA569643PARK7c.507T>G (p.Val169=)
c.447T>G (p.Val149=)
c.420T>G (p.Val140=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984991T=CA1143621698PARK7c.507T= (p.Val169=)
c.447T= (p.Val149=)
c.420T= (p.Val140=)
1g.7984992G>ACA338167195PARK7c.508G>A (p.Glu170Lys)
c.448G>A (p.Glu150Lys)
c.421G>A (p.Glu141Lys)
1g.7984992G>CCA338167196PARK7c.508G>C (p.Glu170Gln)
c.448G>C (p.Glu150Gln)
c.421G>C (p.Glu141Gln)
1g.7984992G>TCA338167197PARK7c.508G>T (p.Glu170Ter)
c.448G>T (p.Glu150Ter)
c.421G>T (p.Glu141Ter)
1g.7984993A>CCA338167198PARK7c.509A>C (p.Glu170Ala)
c.449A>C (p.Glu150Ala)
c.422A>C (p.Glu141Ala)
1g.7984993A>GCA338167199PARK7c.509A>G (p.Glu170Gly)
c.449A>G (p.Glu150Gly)
c.422A>G (p.Glu141Gly)
1g.7984993A>TCA338167200PARK7c.509A>T (p.Glu170Val)
c.449A>T (p.Glu150Val)
c.422A>T (p.Glu141Val)
1g.7984994A>CCA338167201PARK7c.510A>C (p.Glu170Asp)
c.450A>C (p.Glu150Asp)
c.423A>C (p.Glu141Asp)
1g.7984994A>GCA415839144PARK7c.510A>G (p.Glu170=)
c.450A>G (p.Glu150=)
c.423A>G (p.Glu141=)
1g.7984994A>TCA338167202PARK7c.510A>T (p.Glu170Asp)
c.450A>T (p.Glu150Asp)
c.423A>T (p.Glu141Asp)
1g.7984995G>ACA338167204PARK7c.511G>A (p.Ala171Thr)
c.451G>A (p.Ala151Thr)
c.424G>A (p.Ala142Thr)
1g.7984995G>CCA338167203PARK7c.511G>C (p.Ala171Pro)
c.451G>C (p.Ala151Pro)
c.424G>C (p.Ala142Pro)
1g.7984995G=CA1152147596PARK7c.511G= (p.Ala171=)
c.451G= (p.Ala151=)
c.424G= (p.Ala142=)
1g.7984995G>TCA569644PARK7c.511G>T (p.Ala171Ser)
c.451G>T (p.Ala151Ser)
c.424G>T (p.Ala142Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984995_7984996insACCGACATCTCA2742365515PARK7c.511_512insACCGACATCT (p.Ala171AspfsTer21)
c.451_452insACCGACATCT (p.Ala151AspfsTer21)
c.424_425insACCGACATCT (p.Ala142AspfsTer21)
1g.7984996C>ACA338167205PARK7c.512C>A (p.Ala171Asp)
c.452C>A (p.Ala151Asp)
c.425C>A (p.Ala142Asp)
1g.7984996C>GCA338167206PARK7c.512C>G (p.Ala171Gly)
c.452C>G (p.Ala151Gly)
c.425C>G (p.Ala142Gly)
1g.7984996C>TCA338167207PARK7c.512C>T (p.Ala171Val)
c.452C>T (p.Ala151Val)
c.425C>T (p.Ala142Val)
 COSMIC
1g.7984997C>ACA415839147PARK7c.513C>A (p.Ala171=)
c.453C>A (p.Ala151=)
c.426C>A (p.Ala142=)
 gnomAD v4
1g.7984997C>GCA415839149PARK7c.513C>G (p.Ala171=)
c.453C>G (p.Ala151=)
c.426C>G (p.Ala142=)
1g.7984997C>TCA415839148PARK7c.513C>T (p.Ala171=)
c.453C>T (p.Ala151=)
c.426C>T (p.Ala142=)
1g.7984998C>ACA338167208PARK7c.514C>A (p.Leu172Met)
c.454C>A (p.Leu152Met)
c.427C>A (p.Leu143Met)
1g.7984998C>GCA338167209PARK7c.514C>G (p.Leu172Val)
c.454C>G (p.Leu152Val)
c.427C>G (p.Leu143Val)
1g.7984998C>TCA415839150PARK7c.514C>T (p.Leu172=)
c.454C>T (p.Leu152=)
c.427C>T (p.Leu143=)
 gnomAD v4
1g.7984998_7984999insCCAACACTTAAAGTCTTAGCAGCTGCATTCA2742365516PARK7c.514_515insCCAACACTTAAAGTCTTAGCAGCTGCATT (p.Leu172ProfsTer4)
c.454_455insCCAACACTTAAAGTCTTAGCAGCTGCATT (p.Leu152ProfsTer4)
c.427_428insCCAACACTTAAAGTCTTAGCAGCTGCATT (p.Leu143ProfsTer4)
1g.7984999delCA2643056874PARK7c.515del (p.Leu172ArgfsTer10)
c.455del (p.Leu152ArgfsTer10)
c.428del (p.Leu143ArgfsTer10)
 gnomAD v4
1g.7984999T>ACA338167210PARK7c.515T>A (p.Leu172Gln)
c.455T>A (p.Leu152Gln)
c.428T>A (p.Leu143Gln)
 ClinVar dbSNP
1g.7984999T>CCA338167211PARK7c.515T>C (p.Leu172Pro)
c.455T>C (p.Leu152Pro)
c.428T>C (p.Leu143Pro)
 gnomAD v4
1g.7984999T>GCA338167212PARK7c.515T>G (p.Leu172Arg)
c.455T>G (p.Leu152Arg)
c.428T>G (p.Leu143Arg)
1g.7984999T=CA1152147599PARK7c.515T= (p.Leu172=)
c.455T= (p.Leu152=)
c.428T= (p.Leu143=)
1g.7985000G>ACA415839152PARK7c.516G>A (p.Leu172=)
c.456G>A (p.Leu152=)
c.429G>A (p.Leu143=)
1g.7985000G>CCA415839153PARK7c.516G>C (p.Leu172=)
c.456G>C (p.Leu152=)
c.429G>C (p.Leu143=)
1g.7985000G>TCA415839154PARK7c.516G>T (p.Leu172=)
c.456G>T (p.Leu152=)
c.429G>T (p.Leu143=)
1g.7985001A>CCA338167213PARK7c.517A>C (p.Asn173His)
c.457A>C (p.Asn153His)
c.430A>C (p.Asn144His)
1g.7985001A>GCA338167214PARK7c.517A>G (p.Asn173Asp)
c.457A>G (p.Asn153Asp)
c.430A>G (p.Asn144Asp)
1g.7985001A>TCA338167215PARK7c.517A>T (p.Asn173Tyr)
c.457A>T (p.Asn153Tyr)
c.430A>T (p.Asn144Tyr)
1g.7985002A>CCA338167218PARK7c.518A>C (p.Asn173Thr)
c.458A>C (p.Asn153Thr)
c.431A>C (p.Asn144Thr)
1g.7985002A>GCA338167217PARK7c.518A>G (p.Asn173Ser)
c.458A>G (p.Asn153Ser)
c.431A>G (p.Asn144Ser)
1g.7985002A>TCA338167216PARK7c.518A>T (p.Asn173Ile)
c.458A>T (p.Asn153Ile)
c.431A>T (p.Asn144Ile)
1g.7985003T>ACA338167219PARK7c.519T>A (p.Asn173Lys)
c.459T>A (p.Asn153Lys)
c.432T>A (p.Asn144Lys)
1g.7985003T>CCA415839155PARK7c.519T>C (p.Asn173=)
c.459T>C (p.Asn153=)
c.432T>C (p.Asn144=)
1g.7985003T>GCA338167220PARK7c.519T>G (p.Asn173Lys)
c.459T>G (p.Asn153Lys)
c.432T>G (p.Asn144Lys)
1g.7985004G>ACA338167221PARK7c.520G>A (p.Gly174Ser)
c.460G>A (p.Gly154Ser)
c.433G>A (p.Gly145Ser)
 gnomAD v4
1g.7985004G>CCA338167222PARK7c.520G>C (p.Gly174Arg)
c.460G>C (p.Gly154Arg)
c.433G>C (p.Gly145Arg)
1g.7985004G>TCA338167223PARK7c.520G>T (p.Gly174Cys)
c.460G>T (p.Gly154Cys)
c.433G>T (p.Gly145Cys)
1g.7985005G>ACA338167224PARK7c.521G>A (p.Gly174Asp)
c.461G>A (p.Gly154Asp)
c.434G>A (p.Gly145Asp)
1g.7985005G>CCA338167225PARK7c.521G>C (p.Gly174Ala)
c.461G>C (p.Gly154Ala)
c.434G>C (p.Gly145Ala)
1g.7985005G>TCA338167226PARK7c.521G>T (p.Gly174Val)
c.461G>T (p.Gly154Val)
c.434G>T (p.Gly145Val)
1g.7985006C>ACA415839156PARK7c.522C>A (p.Gly174=)
c.462C>A (p.Gly154=)
c.435C>A (p.Gly145=)
1g.7985006C>GCA415839158PARK7c.522C>G (p.Gly174=)
c.462C>G (p.Gly154=)
c.435C>G (p.Gly145=)
1g.7985006C>TCA415839160PARK7c.522C>T (p.Gly174=)
c.462C>T (p.Gly154=)
c.435C>T (p.Gly145=)
1g.7985007A=CA1152147609PARK7c.523A= (p.Lys175=)
c.463A= (p.Lys155=)
c.436A= (p.Lys146=)
1g.7985007A>CCA338167227PARK7c.523A>C (p.Lys175Gln)
c.463A>C (p.Lys155Gln)
c.436A>C (p.Lys146Gln)
1g.7985007A>GCA338167228PARK7c.523A>G (p.Lys175Glu)
c.463A>G (p.Lys155Glu)
c.436A>G (p.Lys146Glu)
 dbSNP
1g.7985007A>TCA338167229PARK7c.523A>T (p.Lys175Ter)
c.463A>T (p.Lys155Ter)
c.436A>T (p.Lys146Ter)
 gnomAD v4
1g.7985008A>CCA338167230PARK7c.524A>C (p.Lys175Thr)
c.464A>C (p.Lys155Thr)
c.437A>C (p.Lys146Thr)
1g.7985008A>GCA338167231PARK7c.524A>G (p.Lys175Arg)
c.464A>G (p.Lys155Arg)
c.437A>G (p.Lys146Arg)
1g.7985008A>TCA338167232PARK7c.524A>T (p.Lys175Met)
c.464A>T (p.Lys155Met)
c.437A>T (p.Lys146Met)
1g.7985011_7985013delCA415839161PARK7c.527_529del (p.Glu176del)
c.467_469del (p.Glu156del)
c.440_442del (p.Glu147del)
1g.7985009G>ACA415839162PARK7c.525G>A (p.Lys175=)
c.465G>A (p.Lys155=)
c.438G>A (p.Lys146=)
 gnomAD v4
1g.7985009G>CCA338167233PARK7c.525G>C (p.Lys175Asn)
c.465G>C (p.Lys155Asn)
c.438G>C (p.Lys146Asn)
1g.7985009G>TCA338167234PARK7c.525G>T (p.Lys175Asn)
c.465G>T (p.Lys155Asn)
c.438G>T (p.Lys146Asn)
1g.7985010G>ACA338167235PARK7c.526G>A (p.Glu176Lys)
c.466G>A (p.Glu156Lys)
c.439G>A (p.Glu147Lys)
1g.7985010G>CCA338167236PARK7c.526G>C (p.Glu176Gln)
c.466G>C (p.Glu156Gln)
c.439G>C (p.Glu147Gln)
1g.7985010G>TCA338167237PARK7c.526G>T (p.Glu176Ter)
c.466G>T (p.Glu156Ter)
c.439G>T (p.Glu147Ter)
1g.7985011A=CA1152147611PARK7c.527A= (p.Glu176=)
c.467A= (p.Glu156=)
c.440A= (p.Glu147=)
1g.7985011A>CCA338167238PARK7c.527A>C (p.Glu176Ala)
c.467A>C (p.Glu156Ala)
c.440A>C (p.Glu147Ala)
 dbSNP gnomAD v4
1g.7985011A>GCA338167239PARK7c.527A>G (p.Glu176Gly)
c.467A>G (p.Glu156Gly)
c.440A>G (p.Glu147Gly)
1g.7985011A>TCA338167240PARK7c.527A>T (p.Glu176Val)
c.467A>T (p.Glu156Val)
c.440A>T (p.Glu147Val)
1g.7985012G>ACA415839163PARK7c.528G>A (p.Glu176=)
c.468G>A (p.Glu156=)
c.441G>A (p.Glu147=)
1g.7985012G>CCA338167241PARK7c.528G>C (p.Glu176Asp)
c.468G>C (p.Glu156Asp)
c.441G>C (p.Glu147Asp)
1g.7985012G>TCA338167242PARK7c.528G>T (p.Glu176Asp)
c.468G>T (p.Glu156Asp)
c.441G>T (p.Glu147Asp)
1g.7985013G>ACA338167243PARK7c.529G>A (p.Val177Met)
c.469G>A (p.Val157Met)
c.442G>A (p.Val148Met)
 dbSNP
1g.7985013G>CCA338167244PARK7c.529G>C (p.Val177Leu)
c.469G>C (p.Val157Leu)
c.442G>C (p.Val148Leu)
1g.7985013G=CA1152147613PARK7c.529G= (p.Val177=)
c.469G= (p.Val157=)
c.442G= (p.Val148=)
1g.7985013G>TCA338167245PARK7c.529G>T (p.Val177Leu)
c.469G>T (p.Val157Leu)
c.442G>T (p.Val148Leu)
1g.7985014T>ACA338167247PARK7c.530T>A (p.Val177Glu)
c.470T>A (p.Val157Glu)
c.443T>A (p.Val148Glu)
1g.7985014T>CCA338167248PARK7c.530T>C (p.Val177Ala)
c.470T>C (p.Val157Ala)
c.443T>C (p.Val148Ala)
1g.7985014T>GCA338167246PARK7c.530T>G (p.Val177Gly)
c.470T>G (p.Val157Gly)
c.443T>G (p.Val148Gly)
1g.7985015G>ACA415839166PARK7c.531G>A (p.Val177=)
c.471G>A (p.Val157=)
c.444G>A (p.Val148=)
1g.7985015G>CCA415839167PARK7c.531G>C (p.Val177=)
c.471G>C (p.Val157=)
c.444G>C (p.Val148=)
1g.7985015G>TCA415839168PARK7c.531G>T (p.Val177=)
c.471G>T (p.Val157=)
c.444G>T (p.Val148=)
1g.7985015_7985016insTAATGACCTCA2505640074PARK7c.531_532insTAATGACCT
c.471_472insTAATGACCT
c.444_445insTAATGACCT
1g.7985016G>ACA338167249PARK7c.532G>A (p.Ala178Thr)
c.472G>A (p.Ala158Thr)
c.445G>A (p.Ala149Thr)
1g.7985016G>CCA338167250PARK7c.532G>C (p.Ala178Pro)
c.472G>C (p.Ala158Pro)
c.445G>C (p.Ala149Pro)
1g.7985016G>TCA338167251PARK7c.532G>T (p.Ala178Ser)
c.472G>T (p.Ala158Ser)
c.445G>T (p.Ala149Ser)
1g.7985017C>ACA338167252PARK7c.533C>A (p.Ala178Glu)
c.473C>A (p.Ala158Glu)
c.446C>A (p.Ala149Glu)
1g.7985017C=CA1152147615PARK7c.533C= (p.Ala178=)
c.473C= (p.Ala158=)
c.446C= (p.Ala149=)
1g.7985017C>GCA338167253PARK7c.533C>G (p.Ala178Gly)
c.473C>G (p.Ala158Gly)
c.446C>G (p.Ala149Gly)
1g.7985017C>TCA569645PARK7c.533C>T (p.Ala178Val)
c.473C>T (p.Ala158Val)
c.446C>T (p.Ala149Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.7985018G>ACA569646PARK7c.534G>A (p.Ala178=)
c.474G>A (p.Ala158=)
c.447G>A (p.Ala149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7985018G>CCA415839172PARK7c.534G>C (p.Ala178=)
c.474G>C (p.Ala158=)
c.447G>C (p.Ala149=)
 dbSNP
1g.7985018G=CA1142335078PARK7c.534G= (p.Ala178=)
c.474G= (p.Ala158=)
c.447G= (p.Ala149=)
1g.7985018G>TCA415839173PARK7c.534G>T (p.Ala178=)
c.474G>T (p.Ala158=)
c.447G>T (p.Ala149=)
1g.7985019G>ACA569647PARK7c.535G>A (p.Ala179Thr)
c.475G>A (p.Ala159Thr)
c.448G>A (p.Ala150Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7985019G>CCA338167254PARK7c.535G>C (p.Ala179Pro)
c.475G>C (p.Ala159Pro)
c.448G>C (p.Ala150Pro)
1g.7985019G=CA1140795499PARK7c.535G= (p.Ala179=)
c.475G= (p.Ala159=)
c.448G= (p.Ala150=)
1g.7985019G>TCA338167255PARK7c.535G>T (p.Ala179Ser)
c.475G>T (p.Ala159Ser)
c.448G>T (p.Ala150Ser)
1g.7985020C>ACA338167256PARK7c.536C>A (p.Ala179Asp)
c.476C>A (p.Ala159Asp)
c.449C>A (p.Ala150Asp)
1g.7985020C>GCA338167257PARK7c.536C>G (p.Ala179Gly)
c.476C>G (p.Ala159Gly)
c.449C>G (p.Ala150Gly)
1g.7985020C>TCA338167258PARK7c.536C>T (p.Ala179Val)
c.476C>T (p.Ala159Val)
c.449C>T (p.Ala150Val)
1g.7985021T>ACA415839175PARK7c.537T>A (p.Ala179=)
c.477T>A (p.Ala159=)
c.450T>A (p.Ala150=)
1g.7985021T>CCA415839176PARK7c.537T>C (p.Ala179=)
c.477T>C (p.Ala159=)
c.450T>C (p.Ala150=)
 dbSNP
1g.7985021T>GCA415839177PARK7c.537T>G (p.Ala179=)
c.477T>G (p.Ala159=)
c.450T>G (p.Ala150=)
1g.7985021T=CA1152147619PARK7c.537T= (p.Ala179=)
c.477T= (p.Ala159=)
c.450T= (p.Ala150=)
1g.7985022C>ACA338167260PARK7c.538C>A (p.Gln180Lys)
c.478C>A (p.Gln160Lys)
c.451C>A (p.Gln151Lys)
 gnomAD v4
1g.7985022C=CA1152147621PARK7c.538C= (p.Gln180=)
c.478C= (p.Gln160=)
c.451C= (p.Gln151=)
1g.7985022C>GCA569648PARK7c.538C>G (p.Gln180Glu)
c.478C>G (p.Gln160Glu)
c.451C>G (p.Gln151Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7985022C>TCA338167259PARK7c.538C>T (p.Gln180Ter)
c.478C>T (p.Gln160Ter)
c.451C>T (p.Gln151Ter)
1g.7985022_7985027delinsCAAGTGCA1152147623PARK7c.538_543delinsCAAGTG (p.Gln180=)
c.478_483delinsCAAGTG (p.Gln160=)
c.451_456delinsCAAGTG (p.Gln151=)
1g.7985023A>CCA338167261PARK7c.539A>C (p.Gln180Pro)
c.479A>C (p.Gln160Pro)
c.452A>C (p.Gln151Pro)
1g.7985023A>GCA338167262PARK7c.539A>G (p.Gln180Arg)
c.479A>G (p.Gln160Arg)
c.452A>G (p.Gln151Arg)
1g.7985023A>TCA338167263PARK7c.539A>T (p.Gln180Leu)
c.479A>T (p.Gln160Leu)
c.452A>T (p.Gln151Leu)
1g.7985026_7985030delCA1152147626PARK7c.542_546del (p.Val181GlyfsTer6)
c.482_486del (p.Val161GlyfsTer6)
c.455_459del (p.Val152GlyfsTer6)
 dbSNP
1g.7985024A=CA1152147628PARK7c.540A= (p.Gln180=)
c.480A= (p.Gln160=)
c.453A= (p.Gln151=)
1g.7985024A>CCA338167264PARK7c.540A>C (p.Gln180His)
c.480A>C (p.Gln160His)
c.453A>C (p.Gln151His)
1g.7985024A>GCA569649PARK7c.540A>G (p.Gln180=)
c.480A>G (p.Gln160=)
c.453A>G (p.Gln151=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7985024A>TCA338167265PARK7c.540A>T (p.Gln180His)
c.480A>T (p.Gln160His)
c.453A>T (p.Gln151His)
1g.7985025G>ACA569651PARK7c.541G>A (p.Val181Met)
c.481G>A (p.Val161Met)
c.454G>A (p.Val152Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7985025G>CCA569650PARK7c.541G>C (p.Val181Leu)
c.481G>C (p.Val161Leu)
c.454G>C (p.Val152Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7985025G=CA1152147634PARK7c.541G= (p.Val181=)
c.481G= (p.Val161=)
c.454G= (p.Val152=)
1g.7985025G>TCA338167266PARK7c.541G>T (p.Val181Leu)
c.481G>T (p.Val161Leu)
c.454G>T (p.Val152Leu)
1g.7985026T>ACA338167267PARK7c.542T>A (p.Val181Glu)
c.482T>A (p.Val161Glu)
c.455T>A (p.Val152Glu)
1g.7985026T>CCA338167268PARK7c.542T>C (p.Val181Ala)
c.482T>C (p.Val161Ala)
c.455T>C (p.Val152Ala)
1g.7985026T>GCA338167269PARK7c.542T>G (p.Val181Gly)
c.482T>G (p.Val161Gly)
c.455T>G (p.Val152Gly)
1g.7985027G>ACA415839180PARK7c.543G>A (p.Val181=)
c.483G>A (p.Val161=)
c.456G>A (p.Val152=)
1g.7985027G>CCA415839181PARK7c.543G>C (p.Val181=)
c.483G>C (p.Val161=)
c.456G>C (p.Val152=)
1g.7985027G>TCA415839183PARK7c.543G>T (p.Val181=)
c.483G>T (p.Val161=)
c.456G>T (p.Val152=)
1g.7985028A>CCA338167272PARK7c.544A>C (p.Lys182Gln)
c.484A>C (p.Lys162Gln)
c.457A>C (p.Lys153Gln)
1g.7985028A>GCA338167271PARK7c.544A>G (p.Lys182Glu)
c.484A>G (p.Lys162Glu)
c.457A>G (p.Lys153Glu)
 gnomAD v4
1g.7985028A>TCA338167270PARK7c.544A>T (p.Lys182Ter)
c.484A>T (p.Lys162Ter)
c.457A>T (p.Lys153Ter)
1g.7985029A>CCA338167273PARK7c.545A>C (p.Lys182Thr)
c.485A>C (p.Lys162Thr)
c.458A>C (p.Lys153Thr)
1g.7985029A>GCA338167275PARK7c.545A>G (p.Lys182Arg)
c.485A>G (p.Lys162Arg)
c.458A>G (p.Lys153Arg)
 gnomAD v4
1g.7985029A>TCA338167274PARK7c.545A>T (p.Lys182Met)
c.485A>T (p.Lys162Met)
c.458A>T (p.Lys153Met)
1g.7985030G>ACA415839184PARK7c.546G>A (p.Lys182=)
c.486G>A (p.Lys162=)
c.459G>A (p.Lys153=)
1g.7985030G>CCA338167276PARK7c.546G>C (p.Lys182Asn)
c.486G>C (p.Lys162Asn)
c.459G>C (p.Lys153Asn)
1g.7985030G>TCA338167277PARK7c.546G>T (p.Lys182Asn)
c.486G>T (p.Lys162Asn)
c.459G>T (p.Lys153Asn)
 gnomAD v4
1g.7985031G>ACA338167278PARK7c.547G>A (p.Ala183Thr)
c.487G>A (p.Ala163Thr)
c.460G>A (p.Ala154Thr)
 dbSNP
1g.7985031G>CCA338167279PARK7c.547G>C (p.Ala183Pro)
c.487G>C (p.Ala163Pro)
c.460G>C (p.Ala154Pro)
 dbSNP
1g.7985031G=CA1152147637PARK7c.547G= (p.Ala183=)
c.487G= (p.Ala163=)
c.460G= (p.Ala154=)
1g.7985031G>TCA338167280PARK7c.547G>T (p.Ala183Ser)
c.487G>T (p.Ala163Ser)
c.460G>T (p.Ala154Ser)
1g.7985032C>ACA338167281PARK7c.548C>A (p.Ala183Asp)
c.488C>A (p.Ala163Asp)
c.461C>A (p.Ala154Asp)
1g.7985032C>GCA338167282PARK7c.548C>G (p.Ala183Gly)
c.488C>G (p.Ala163Gly)
c.461C>G (p.Ala154Gly)
1g.7985032C>TCA338167283PARK7c.548C>T (p.Ala183Val)
c.488C>T (p.Ala163Val)
c.461C>T (p.Ala154Val)
1g.7985033T>ACA415839185PARK7c.549T>A (p.Ala183=)
c.489T>A (p.Ala163=)
c.462T>A (p.Ala154=)
1g.7985033T>CCA569652PARK7c.549T>C (p.Ala183=)
c.489T>C (p.Ala163=)
c.462T>C (p.Ala154=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7985033T>GCA415839186PARK7c.549T>G (p.Ala183=)
c.489T>G (p.Ala163=)
c.462T>G (p.Ala154=)
1g.7985033T=CA1152147640PARK7c.549T= (p.Ala183=)
c.489T= (p.Ala163=)
c.462T= (p.Ala154=)
1g.7985034C>ACA338167284PARK7c.550C>A (p.Pro184Thr)
c.490C>A (p.Pro164Thr)
c.463C>A (p.Pro155Thr)
1g.7985034C>GCA338167285PARK7c.550C>G (p.Pro184Ala)
c.490C>G (p.Pro164Ala)
c.463C>G (p.Pro155Ala)
1g.7985034C>TCA338167286PARK7c.550C>T (p.Pro184Ser)
c.490C>T (p.Pro164Ser)
c.463C>T (p.Pro155Ser)
 COSMIC
1g.7985035C>ACA338167287PARK7c.551C>A (p.Pro184Gln)
c.491C>A (p.Pro164Gln)
c.464C>A (p.Pro155Gln)
1g.7985035C>GCA338167288PARK7c.551C>G (p.Pro184Arg)
c.491C>G (p.Pro164Arg)
c.464C>G (p.Pro155Arg)
1g.7985035C>TCA338167289PARK7c.551C>T (p.Pro184Leu)
c.491C>T (p.Pro164Leu)
c.464C>T (p.Pro155Leu)
1g.7985036A=CA1139989298PARK7c.552A= (p.Pro184=)
c.492A= (p.Pro164=)
c.465A= (p.Pro155=)
1g.7985036A>CCA17286816PARK7c.552A>C (p.Pro184=)
c.492A>C (p.Pro164=)
c.465A>C (p.Pro155=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7985036A>GCA415839190PARK7c.552A>G (p.Pro184=)
c.492A>G (p.Pro164=)
c.465A>G (p.Pro155=)
 dbSNP gnomAD v4
1g.7985036A>TCA415839191PARK7c.552A>T (p.Pro184=)
c.492A>T (p.Pro164=)
c.465A>T (p.Pro155=)
1g.7985037C>ACA338167290PARK7c.553C>A (p.Leu185Ile)
c.493C>A (p.Leu165Ile)
c.466C>A (p.Leu156Ile)
1g.7985037C=CA1152147644PARK7c.553C= (p.Leu185=)
c.493C= (p.Leu165=)
c.466C= (p.Leu156=)
1g.7985037C>GCA338167291PARK7c.553C>G (p.Leu185Val)
c.493C>G (p.Leu165Val)
c.466C>G (p.Leu156Val)
1g.7985037C>TCA338167292PARK7c.553C>T (p.Leu185Phe)
c.493C>T (p.Leu165Phe)
c.466C>T (p.Leu156Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.7985038T>ACA338167293PARK7c.554T>A (p.Leu185His)
c.494T>A (p.Leu165His)
c.467T>A (p.Leu156His)
1g.7985038T>CCA338167294PARK7c.554T>C (p.Leu185Pro)
c.494T>C (p.Leu165Pro)
c.467T>C (p.Leu156Pro)
1g.7985038T>GCA338167295PARK7c.554T>G (p.Leu185Arg)
c.494T>G (p.Leu165Arg)
c.467T>G (p.Leu156Arg)
1g.7985039T>ACA415839192PARK7c.555T>A (p.Leu185=)
c.495T>A (p.Leu165=)
c.468T>A (p.Leu156=)
 gnomAD v4
1g.7985039T>CCA415839193PARK7c.555T>C (p.Leu185=)
c.495T>C (p.Leu165=)
c.468T>C (p.Leu156=)
1g.7985039T>GCA415839194PARK7c.555T>G (p.Leu185=)
c.495T>G (p.Leu165=)
c.468T>G (p.Leu156=)
1g.7985040G>ACA338167296PARK7c.556G>A (p.Val186Ile)
c.496G>A (p.Val166Ile)
c.469G>A (p.Val157Ile)
 dbSNP gnomAD v4
1g.7985040G>CCA338167297PARK7c.556G>C (p.Val186Leu)
c.496G>C (p.Val166Leu)
c.469G>C (p.Val157Leu)
1g.7985040G=CA1152147645PARK7c.556G= (p.Val186=)
c.496G= (p.Val166=)
c.469G= (p.Val157=)
1g.7985040G>TCA338167298PARK7c.556G>T (p.Val186Phe)
c.496G>T (p.Val166Phe)
c.469G>T (p.Val157Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.7985041T>ACA338167299PARK7c.557T>A (p.Val186Asp)
c.497T>A (p.Val166Asp)
c.470T>A (p.Val157Asp)
1g.7985041T>CCA338167300PARK7c.557T>C (p.Val186Ala)
c.497T>C (p.Val166Ala)
c.470T>C (p.Val157Ala)
1g.7985041T>GCA338167301PARK7c.557T>G (p.Val186Gly)
c.497T>G (p.Val166Gly)
c.470T>G (p.Val157Gly)
1g.7985042T>ACA415839198PARK7c.558T>A (p.Val186=)
c.498T>A (p.Val166=)
c.471T>A (p.Val157=)
1g.7985042T>CCA17286817PARK7c.558T>C (p.Val186=)
c.498T>C (p.Val166=)
c.471T>C (p.Val157=)
 dbSNP
1g.7985042T>GCA415839199PARK7c.558T>G (p.Val186=)
c.498T>G (p.Val166=)
c.471T>G (p.Val157=)
1g.7985042T=CA1152147648PARK7c.558T= (p.Val186=)
c.498T= (p.Val166=)
c.471T= (p.Val157=)
1g.7985043C>ACA338167302PARK7c.559C>A (p.Leu187Ile)
c.499C>A (p.Leu167Ile)
c.472C>A (p.Leu158Ile)
1g.7985043C>GCA338167304PARK7c.559C>G (p.Leu187Val)
c.499C>G (p.Leu167Val)
c.472C>G (p.Leu158Val)
 COSMIC
1g.7985043C>TCA338167303PARK7c.559C>T (p.Leu187Phe)
c.499C>T (p.Leu167Phe)
c.472C>T (p.Leu158Phe)
 gnomAD v4
1g.7985044T>ACA338167305PARK7c.560T>A (p.Leu187His)
c.500T>A (p.Leu167His)
c.473T>A (p.Leu158His)
1g.7985044T>CCA338167306PARK7c.560T>C (p.Leu187Pro)
c.500T>C (p.Leu167Pro)
c.473T>C (p.Leu158Pro)
1g.7985044T>GCA338167307PARK7c.560T>G (p.Leu187Arg)
c.500T>G (p.Leu167Arg)
c.473T>G (p.Leu158Arg)
1g.7985045T>ACA415839202PARK7c.561T>A (p.Leu187=)
c.501T>A (p.Leu167=)
c.474T>A (p.Leu158=)
1g.7985045T>CCA415839203PARK7c.561T>C (p.Leu187=)
c.501T>C (p.Leu167=)
c.474T>C (p.Leu158=)
1g.7985045T>GCA415839204PARK7c.561T>G (p.Leu187=)
c.501T>G (p.Leu167=)
c.474T>G (p.Leu158=)
1g.7985046A=CA1152147649PARK7c.562A= (p.Lys188=)
c.502A= (p.Lys168=)
c.475A= (p.Lys159=)
1g.7985046A>CCA338167308PARK7c.562A>C (p.Lys188Gln)
c.502A>C (p.Lys168Gln)
c.475A>C (p.Lys159Gln)
1g.7985046A>GCA338167309PARK7c.562A>G (p.Lys188Glu)
c.502A>G (p.Lys168Glu)
c.475A>G (p.Lys159Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7985046A>TCA338167310PARK7c.562A>T (p.Lys188Ter)
c.502A>T (p.Lys168Ter)
c.475A>T (p.Lys159Ter)
1g.7985047A>CCA338167311PARK7c.563A>C (p.Lys188Thr)
c.503A>C (p.Lys168Thr)
c.476A>C (p.Lys159Thr)
1g.7985047A>GCA338167312PARK7c.563A>G (p.Lys188Arg)
c.503A>G (p.Lys168Arg)
c.476A>G (p.Lys159Arg)
1g.7985047A>TCA338167313PARK7c.563A>T (p.Lys188Ile)
c.503A>T (p.Lys168Ile)
c.476A>T (p.Lys159Ile)
1g.7985048A>CCA338167314PARK7c.564A>C (p.Lys188Asn)
c.504A>C (p.Lys168Asn)
c.477A>C (p.Lys159Asn)
1g.7985048A>GCA415839205PARK7c.564A>G (p.Lys188=)
c.504A>G (p.Lys168=)
c.477A>G (p.Lys159=)
1g.7985048A>TCA338167315PARK7c.564A>T (p.Lys188Asn)
c.504A>T (p.Lys168Asn)
c.477A>T (p.Lys159Asn)
1g.7985049G>ACA338167318PARK7c.565G>A (p.Asp189Asn)
c.505G>A (p.Asp169Asn)
c.478G>A (p.Asp160Asn)
1g.7985049G>CCA338167317PARK7c.565G>C (p.Asp189His)
c.505G>C (p.Asp169His)
c.478G>C (p.Asp160His)
1g.7985049G>TCA338167316PARK7c.565G>T (p.Asp189Tyr)
c.505G>T (p.Asp169Tyr)
c.478G>T (p.Asp160Tyr)
1g.7985050A=CA1152147652PARK7c.566A= (p.Asp189=)
c.506A= (p.Asp169=)
c.479A= (p.Asp160=)
1g.7985050A>CCA338167319PARK7c.566A>C (p.Asp189Ala)
c.506A>C (p.Asp169Ala)
c.479A>C (p.Asp160Ala)
1g.7985050A>GCA338167320PARK7c.566A>G (p.Asp189Gly)
c.506A>G (p.Asp169Gly)
c.479A>G (p.Asp160Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.7985050A>TCA338167321PARK7c.566A>T (p.Asp189Val)
c.506A>T (p.Asp169Val)
c.479A>T (p.Asp160Val)
1g.7985050_7985051delinsACCA1152147655PARK7c.566_567delinsAC (p.Asp189=)
c.506_507delinsAC (p.Asp169=)
c.479_480delinsAC (p.Asp160=)
1g.7985051delCA521019990PARK7c.567del (p.Ter190ArgextTer24)
c.567del (p.Ter190ArgextTer?)
c.507del (p.Ter170ArgextTer24)
c.480del (p.Ter161ArgextTer24)
c.567del (p.Asp189=)
 dbSNP gnomAD v2 gnomAD v4
1g.7985051C>ACA338167322PARK7c.567C>A (p.Asp189Glu)
c.507C>A (p.Asp169Glu)
c.480C>A (p.Asp160Glu)
1g.7985051C>GCA338167323PARK7c.567C>G (p.Asp189Glu)
c.507C>G (p.Asp169Glu)
c.480C>G (p.Asp160Glu)
1g.7985051C>TCA415839208PARK7c.567C>T (p.Asp189=)
c.507C>T (p.Asp169=)
c.480C>T (p.Asp160=)
1g.7985051_7985053delinsCTACA1152147663PARK7c.567_569delinsCTA (p.Asp189=)
c.507_509delinsCTA (p.Asp169=)
c.480_482delinsCTA (p.Asp160=)
1g.7985052T>ACA338167324PARK7c.568T>A (p.Ter190Lys)
c.508T>A (p.Ter170Lys)
c.481T>A (p.Ter161Lys)
c.568T>A
1g.7985052T>CCA338167325PARK7c.568T>C (p.Ter190Gln)
c.508T>C (p.Ter170Gln)
c.481T>C (p.Ter161Gln)
c.568T>C
1g.7985052T>GCA338167326PARK7c.568T>G (p.Ter190Glu)
c.508T>G (p.Ter170Glu)
c.481T>G (p.Ter161Glu)
c.568T>G
1g.7985052_7985053delCA998307712PARK7c.568_569del (p.Ter190GluextTer9)
c.508_509del (p.Ter170GluextTer9)
c.481_482del (p.Ter161GluextTer9)
 dbSNP gnomAD v3 gnomAD v4
1g.7985053A=CA1152147669PARK7c.569A= (p.Ter190=)
c.509A= (p.Ter170=)
c.482A= (p.Ter161=)
1g.7985053A>CCA338167327PARK7c.569A>C (p.Ter190Ser)
c.509A>C (p.Ter170Ser)
c.482A>C (p.Ter161Ser)
1g.7985053A>GCA338167328PARK7c.569A>G (p.Ter190Trp)
c.509A>G (p.Ter170Trp)
c.482A>G (p.Ter161Trp)
1g.7985053A>TCA338167329PARK7c.569A>T (p.Ter190Leu)
c.509A>T (p.Ter170Leu)
c.482A>T (p.Ter161Leu)
1g.7985054G>ACA415839210PARK7c.570G>A (p.Ter190=)
c.510G>A (p.Ter170=)
c.483G>A (p.Ter161=)
 gnomAD v4
1g.7985054G>CCA338167330PARK7c.570G>C (p.Ter190Tyr)
c.510G>C (p.Ter170Tyr)
c.483G>C (p.Ter161Tyr)
1g.7985054G>TCA338167331PARK7c.570G>T (p.Ter190Tyr)
c.510G>T (p.Ter170Tyr)
c.483G>T (p.Ter161Tyr)
1g.7985054_7985056dupCA521019991PARK7c.570_*2dup (n.570_*2dup)
c.510_*2dup (n.510_*2dup)
c.483_485dup (n.483_485dup)
 dbSNP gnomAD v2 gnomAD v4
1g.7985055A>CCA2643056875PARK7c.*1A>C (n.*1A>C)
c.484A>C (n.484A>C)
 gnomAD v4

Number of alleles fetched