Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7984879_7984884delCA2643056870PARK7c.410-15_410-10del (n.410-15_410-10del)
c.350-15_350-10del (n.350-15_350-10del)
c.308_313del (p.Cys103_Phe104del)
dbSNP gnomAD v4
1g.7984875T>ACA338166944PARK7c.410-19T>A (n.410-19T>A)
c.350-19T>A (n.350-19T>A)
c.304T>A (p.Phe102Ile)
1g.7984875T>CCA338166945PARK7c.410-19T>C (n.410-19T>C)
c.350-19T>C (n.350-19T>C)
c.304T>C (p.Phe102Leu)
gnomAD v4
1g.7984875T>GCA338166946PARK7c.410-19T>G (n.410-19T>G)
c.350-19T>G (n.350-19T>G)
c.304T>G (p.Phe102Val)
1g.7984876T>ACA338166948PARK7c.410-18T>A (n.410-18T>A)
c.350-18T>A (n.350-18T>A)
c.305T>A (p.Phe102Tyr)
1g.7984876T>CCA569616PARK7c.410-18T>C (n.410-18T>C)
c.350-18T>C (n.350-18T>C)
c.305T>C (p.Phe102Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984876T>GCA338166947PARK7c.410-18T>G (n.410-18T>G)
c.350-18T>G (n.350-18T>G)
c.305T>G (p.Phe102Cys)
1g.7984876T=CA1152147333PARK7c.410-18T= (n.410-18T=)
c.350-18T= (n.350-18T=)
c.305T= (p.Phe102=)
1g.7984877C>ACA338166949PARK7c.410-17C>A (n.410-17C>A)
c.350-17C>A (n.350-17C>A)
c.306C>A (p.Phe102Leu)
1g.7984877C>GCA338166950PARK7c.410-17C>G (n.410-17C>G)
c.350-17C>G (n.350-17C>G)
c.306C>G (p.Phe102Leu)
1g.7984878T>ACA338166951PARK7c.410-16T>A (n.410-16T>A)
c.350-16T>A (n.350-16T>A)
c.307T>A (p.Cys103Ser)
1g.7984878T>CCA338166952PARK7c.410-16T>C (n.410-16T>C)
c.350-16T>C (n.350-16T>C)
c.307T>C (p.Cys103Arg)
1g.7984878T>GCA338166953PARK7c.410-16T>G (n.410-16T>G)
c.350-16T>G (n.350-16T>G)
c.307T>G (p.Cys103Gly)
1g.7984879G>ACA338166954PARK7c.410-15G>A (n.410-15G>A)
c.350-15G>A (n.350-15G>A)
c.308G>A (p.Cys103Tyr)
1g.7984879G>CCA338166955PARK7c.410-15G>C (n.410-15G>C)
c.350-15G>C (n.350-15G>C)
c.308G>C (p.Cys103Ser)
1g.7984879G=CA1152147334PARK7c.410-15G= (n.410-15G=)
c.350-15G= (n.350-15G=)
c.308G= (p.Cys103=)
1g.7984879G>TCA338166956PARK7c.410-15G>T (n.410-15G>T)
c.350-15G>T (n.350-15G>T)
c.308G>T (p.Cys103Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7984880T>ACA338166957PARK7c.410-14T>A (n.410-14T>A)
c.350-14T>A (n.350-14T>A)
c.309T>A (p.Cys103Ter)
1g.7984880T>GCA338166958PARK7c.410-14T>G (n.410-14T>G)
c.350-14T>G (n.350-14T>G)
c.309T>G (p.Cys103Trp)
1g.7984881T>ACA338166959PARK7c.410-13T>A (n.410-13T>A)
c.350-13T>A (n.350-13T>A)
c.310T>A (p.Phe104Ile)
1g.7984881T>CCA338166960PARK7c.410-13T>C (n.410-13T>C)
c.350-13T>C (n.350-13T>C)
c.310T>C (p.Phe104Leu)
1g.7984881T>GCA338166961PARK7c.410-13T>G (n.410-13T>G)
c.350-13T>G (n.350-13T>G)
c.310T>G (p.Phe104Val)
1g.7984882T>ACA338166964PARK7c.410-12T>A (n.410-12T>A)
c.350-12T>A (n.350-12T>A)
c.311T>A (p.Phe104Tyr)
1g.7984882T>CCA338166963PARK7c.410-12T>C (n.410-12T>C)
c.350-12T>C (n.350-12T>C)
c.311T>C (p.Phe104Ser)
1g.7984882T>GCA338166962PARK7c.410-12T>G (n.410-12T>G)
c.350-12T>G (n.350-12T>G)
c.311T>G (p.Phe104Cys)
dbSNP
1g.7984882T=CA1152147337PARK7c.410-12T= (n.410-12T=)
c.350-12T= (n.350-12T=)
c.311T= (p.Phe104=)
1g.7984883C>ACA338166966PARK7c.410-11C>A (n.410-11C>A)
c.350-11C>A (n.350-11C>A)
c.312C>A (p.Phe104Leu)
1g.7984883C>GCA338166965PARK7c.410-11C>G (n.410-11C>G)
c.350-11C>G (n.350-11C>G)
c.312C>G (p.Phe104Leu)
1g.7984884T>ACA338166967PARK7c.410-10T>A (n.410-10T>A)
c.350-10T>A (n.350-10T>A)
c.313T>A (p.Tyr105Asn)
1g.7984884T>CCA17286810PARK7c.410-10T>C (n.410-10T>C)
c.350-10T>C (n.350-10T>C)
c.313T>C (p.Tyr105His)
dbSNP gnomAD v4
1g.7984884T>GCA338166968PARK7c.410-10T>G (n.410-10T>G)
c.350-10T>G (n.350-10T>G)
c.313T>G (p.Tyr105Asp)
1g.7984884T=CA1152147340PARK7c.410-10T= (n.410-10T=)
c.350-10T= (n.350-10T=)
c.313T= (p.Tyr105=)
1g.7984885A=CA1141960700PARK7c.410-9A= (n.410-9A=)
c.350-9A= (n.350-9A=)
c.314A= (p.Tyr105=)
1g.7984885A>CCA338166969PARK7c.410-9A>C (n.410-9A>C)
c.350-9A>C (n.350-9A>C)
c.314A>C (p.Tyr105Ser)
1g.7984885A>GCA569617PARK7c.410-9A>G (n.410-9A>G)
c.350-9A>G (n.350-9A>G)
c.314A>G (p.Tyr105Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984885A>TCA338166970PARK7c.410-9A>T (n.410-9A>T)
c.350-9A>T (n.350-9A>T)
c.314A>T (p.Tyr105Phe)
1g.7984886C>ACA338166971PARK7c.410-8C>A (n.410-8C>A)
c.350-8C>A (n.350-8C>A)
c.315C>A (p.Tyr105Ter)
1g.7984886C>GCA338166972PARK7c.410-8C>G (n.410-8C>G)
c.350-8C>G (n.350-8C>G)
c.315C>G (p.Tyr105Ter)
1g.7984886C>TCA2643056871PARK7c.410-8C>T (n.410-8C>T)
c.350-8C>T (n.350-8C>T)
c.315C>T (p.Tyr105=)
gnomAD v4
1g.7984887T>ACA338166973PARK7c.410-7T>A (n.410-7T>A)
c.350-7T>A (n.350-7T>A)
c.316T>A (p.Phe106Ile)
1g.7984887T>CCA338166974PARK7c.410-7T>C (n.410-7T>C)
c.350-7T>C (n.350-7T>C)
c.316T>C (p.Phe106Leu)
1g.7984887T>GCA338166975PARK7c.410-7T>G (n.410-7T>G)
c.350-7T>G (n.350-7T>G)
c.316T>G (p.Phe106Val)
1g.7984888T>ACA338166977PARK7c.410-6T>A (n.410-6T>A)
c.350-6T>A (n.350-6T>A)
c.317T>A (p.Phe106Tyr)
1g.7984888T>CCA338166978PARK7c.410-6T>C (n.410-6T>C)
c.350-6T>C (n.350-6T>C)
c.317T>C (p.Phe106Ser)
1g.7984888T>GCA338166976PARK7c.410-6T>G (n.410-6T>G)
c.350-6T>G (n.350-6T>G)
c.317T>G (p.Phe106Cys)
1g.7984889T>ACA338166979PARK7c.410-5T>A (n.410-5T>A)
c.350-5T>A (n.350-5T>A)
c.318T>A (p.Phe106Leu)
1g.7984889T>GCA338166980PARK7c.410-5T>G (n.410-5T>G)
c.350-5T>G (n.350-5T>G)
c.318T>G (p.Phe106Leu)
1g.7984890G>ACA338166981PARK7c.410-4G>A (n.410-4G>A)
c.350-4G>A (n.350-4G>A)
c.319G>A (p.Ala107Thr)
1g.7984890G>CCA338166982PARK7c.410-4G>C (n.410-4G>C)
c.350-4G>C (n.350-4G>C)
c.319G>C (p.Ala107Pro)
1g.7984890G=CA1152147351PARK7c.410-4G= (n.410-4G=)
c.350-4G= (n.350-4G=)
c.319G= (p.Ala107=)
1g.7984890G>TCA338166983PARK7c.410-4G>T (n.410-4G>T)
c.350-4G>T (n.350-4G>T)
c.319G>T (p.Ala107Ser)
dbSNP
1g.7984891C>ACA338166986PARK7c.410-3C>A (n.410-3C>A)
c.350-3C>A (n.350-3C>A)
c.320C>A (p.Ala107Glu)
1g.7984891C>GCA338166984PARK7c.410-3C>G (n.410-3C>G)
c.350-3C>G (n.350-3C>G)
c.320C>G (p.Ala107Gly)
1g.7984891C>TCA338166985PARK7c.410-3C>T (n.410-3C>T)
c.350-3C>T (n.350-3C>T)
c.320C>T (p.Ala107Val)
1g.7984892A>CCA338166987PARK7c.410-2A>C (n.410-2A>C)
c.350-2A>C (n.350-2A>C)
c.321A>C (p.Ala107=)
1g.7984892A>GCA338166988PARK7c.410-2A>G (n.410-2A>G)
c.350-2A>G (n.350-2A>G)
c.321A>G (p.Ala107=)
1g.7984892A>TCA338166989PARK7c.410-2A>T (n.410-2A>T)
c.350-2A>T (n.350-2A>T)
c.321A>T (p.Ala107=)
1g.7984892_7984893delinsAGCA1152147354PARK7c.410-2_410-1delinsAG (n.410-2_410-1delinsAG)
c.350-2_350-1delinsAG (n.350-2_350-1delinsAG)
c.321_322delinsAG (p.Ala107=)
1g.7984893G>ACA338166990PARK7c.410-1G>A (n.410-1G>A)
c.350-1G>A (n.350-1G>A)
c.322G>A (p.Gly108Ser)
1g.7984893G>CCA338166991PARK7c.410-1G>C (n.410-1G>C)
c.350-1G>C (n.350-1G>C)
c.322G>C (p.Gly108Arg)
1g.7984893G>TCA338166992PARK7c.410-1G>T (n.410-1G>T)
c.350-1G>T (n.350-1G>T)
c.322G>T (p.Gly108Cys)
1g.7984894delCA739208332PARK7c.410del
c.350del
c.323del (p.Gly108ValfsTer15)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7984894G>ACA338166994PARK7c.410G>A (p.Gly137Asp)
c.350G>A (p.Gly117Asp)
c.323G>A (p.Gly108Asp)
gnomAD v4
1g.7984894G>CCA338166995PARK7c.410G>C (p.Gly137Ala)
c.350G>C (p.Gly117Ala)
c.323G>C (p.Gly108Ala)
1g.7984894G>TCA338166993PARK7c.410G>T (p.Gly137Val)
c.350G>T (p.Gly117Val)
c.323G>T (p.Gly108Val)
1g.7984895T>ACA415838982PARK7c.411T>A (p.Gly137=)
c.351T>A (p.Gly117=)
c.324T>A (p.Gly108=)
1g.7984895T>CCA415838984PARK7c.411T>C (p.Gly137=)
c.351T>C (p.Gly117=)
c.324T>C (p.Gly108=)
1g.7984895T>GCA415838986PARK7c.411T>G (p.Gly137=)
c.351T>G (p.Gly117=)
c.324T>G (p.Gly108=)
1g.7984896C>ACA338166996PARK7c.412C>A (p.His138Asn)
c.352C>A (p.His118Asn)
c.325C>A (p.His109Asn)
dbSNP
1g.7984896C=CA1152147360PARK7c.412C= (p.His138=)
c.352C= (p.His118=)
c.325C= (p.His109=)
1g.7984896C>GCA338166997PARK7c.412C>G (p.His138Asp)
c.352C>G (p.His118Asp)
c.325C>G (p.His109Asp)
gnomAD v4
1g.7984896C>TCA338166998PARK7c.412C>T (p.His138Tyr)
c.352C>T (p.His118Tyr)
c.325C>T (p.His109Tyr)
gnomAD v4
1g.7984896dupCA2643056872PARK7c.412dup (p.His138ProfsTer6)
c.352dup (p.His118ProfsTer6)
c.325dup (p.His109ProfsTer6)
gnomAD v4
1g.7984897A=CA1152147363PARK7c.413A= (p.His138=)
c.353A= (p.His118=)
c.326A= (p.His109=)
1g.7984897A>CCA338166999PARK7c.413A>C (p.His138Pro)
c.353A>C (p.His118Pro)
c.326A>C (p.His109Pro)
1g.7984897A>GCA569618PARK7c.413A>G (p.His138Arg)
c.353A>G (p.His118Arg)
c.326A>G (p.His109Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984897A>TCA338167000PARK7c.413A>T (p.His138Leu)
c.353A>T (p.His118Leu)
c.326A>T (p.His109Leu)
1g.7984897_7984898delCA2643056873PARK7c.413_414del (p.His138LeufsTer5)
c.353_354del (p.His118LeufsTer5)
c.326_327del (p.His109LeufsTer5)
gnomAD v4
1g.7984898T>ACA338167001PARK7c.414T>A (p.His138Gln)
c.354T>A (p.His118Gln)
c.327T>A (p.His109Gln)
1g.7984898T>CCA415838988PARK7c.414T>C (p.His138=)
c.354T>C (p.His118=)
c.327T>C (p.His109=)
1g.7984898T>GCA338167002PARK7c.414T>G (p.His138Gln)
c.354T>G (p.His118Gln)
c.327T>G (p.His109Gln)
1g.7984899T>ACA338167003PARK7c.415T>A (p.Tyr139Asn)
c.355T>A (p.Tyr119Asn)
c.328T>A (p.Tyr110Asn)
1g.7984899T>CCA338167004PARK7c.415T>C (p.Tyr139His)
c.355T>C (p.Tyr119His)
c.328T>C (p.Tyr110His)
1g.7984899T>GCA338167005PARK7c.415T>G (p.Tyr139Asp)
c.355T>G (p.Tyr119Asp)
c.328T>G (p.Tyr110Asp)
1g.7984900A>CCA338167006PARK7c.416A>C (p.Tyr139Ser)
c.356A>C (p.Tyr119Ser)
c.329A>C (p.Tyr110Ser)
1g.7984900A>GCA338167007PARK7c.416A>G (p.Tyr139Cys)
c.356A>G (p.Tyr119Cys)
c.329A>G (p.Tyr110Cys)
gnomAD v4
1g.7984900A>TCA338167008PARK7c.416A>T (p.Tyr139Phe)
c.356A>T (p.Tyr119Phe)
c.329A>T (p.Tyr110Phe)
1g.7984901C>ACA338167010PARK7c.417C>A (p.Tyr139Ter)
c.357C>A (p.Tyr119Ter)
c.330C>A (p.Tyr110Ter)
1g.7984901C>GCA338167009PARK7c.417C>G (p.Tyr139Ter)
c.357C>G (p.Tyr119Ter)
c.330C>G (p.Tyr110Ter)
1g.7984901C>TCA415838990PARK7c.417C>T (p.Tyr139=)
c.357C>T (p.Tyr119=)
c.330C>T (p.Tyr110=)
1g.7984902A=CA1143370190PARK7c.418A= (p.Thr140=)
c.358A= (p.Thr120=)
c.331A= (p.Thr111=)
1g.7984902A>CCA338167011PARK7c.418A>C (p.Thr140Pro)
c.358A>C (p.Thr120Pro)
c.331A>C (p.Thr111Pro)
1g.7984902A>GCA17286811PARK7c.418A>G (p.Thr140Ala)
c.358A>G (p.Thr120Ala)
c.331A>G (p.Thr111Ala)
dbSNP gnomAD v4
1g.7984902A>TCA338167012PARK7c.418A>T (p.Thr140Ser)
c.358A>T (p.Thr120Ser)
c.331A>T (p.Thr111Ser)
dbSNP gnomAD v3 gnomAD v4
1g.7984903C>ACA338167013PARK7c.419C>A (p.Thr140Asn)
c.359C>A (p.Thr120Asn)
c.332C>A (p.Thr111Asn)
1g.7984903C>GCA338167014PARK7c.419C>G (p.Thr140Ser)
c.359C>G (p.Thr120Ser)
c.332C>G (p.Thr111Ser)
1g.7984903C>TCA338167015PARK7c.419C>T (p.Thr140Ile)
c.359C>T (p.Thr120Ile)
c.332C>T (p.Thr111Ile)
gnomAD v4
1g.7984904C>ACA415838996PARK7c.420C>A (p.Thr140=)
c.360C>A (p.Thr120=)
c.333C>A (p.Thr111=)
1g.7984904C>GCA415838997PARK7c.420C>G (p.Thr140=)
c.360C>G (p.Thr120=)
c.333C>G (p.Thr111=)
1g.7984904C>TCA415838998PARK7c.420C>T (p.Thr140=)
c.360C>T (p.Thr120=)
c.333C>T (p.Thr111=)
1g.7984905T>ACA338167018PARK7c.421T>A (p.Tyr141Asn)
c.361T>A (p.Tyr121Asn)
c.334T>A (p.Tyr112Asn)
1g.7984905T>CCA338167016PARK7c.421T>C (p.Tyr141His)
c.361T>C (p.Tyr121His)
c.334T>C (p.Tyr112His)
1g.7984905T>GCA338167017PARK7c.421T>G (p.Tyr141Asp)
c.361T>G (p.Tyr121Asp)
c.334T>G (p.Tyr112Asp)
1g.7984906A>CCA338167019PARK7c.422A>C (p.Tyr141Ser)
c.362A>C (p.Tyr121Ser)
c.335A>C (p.Tyr112Ser)
1g.7984906A>GCA338167020PARK7c.422A>G (p.Tyr141Cys)
c.362A>G (p.Tyr121Cys)
c.335A>G (p.Tyr112Cys)
1g.7984906A>TCA338167021PARK7c.422A>T (p.Tyr141Phe)
c.362A>T (p.Tyr121Phe)
c.335A>T (p.Tyr112Phe)
1g.7984907C>ACA338167022PARK7c.423C>A (p.Tyr141Ter)
c.363C>A (p.Tyr121Ter)
c.336C>A (p.Tyr112Ter)
1g.7984907C>GCA338167023PARK7c.423C>G (p.Tyr141Ter)
c.363C>G (p.Tyr121Ter)
c.336C>G (p.Tyr112Ter)
1g.7984907C>TCA415839000PARK7c.423C>T (p.Tyr141=)
c.363C>T (p.Tyr121=)
c.336C>T (p.Tyr112=)
gnomAD v4
1g.7984908T>ACA338167024PARK7c.424T>A (p.Ser142Thr)
c.364T>A (p.Ser122Thr)
c.337T>A (p.Ser113Thr)
1g.7984908T>CCA338167026PARK7c.424T>C (p.Ser142Pro)
c.364T>C (p.Ser122Pro)
c.337T>C (p.Ser113Pro)
1g.7984908T>GCA338167025PARK7c.424T>G (p.Ser142Ala)
c.364T>G (p.Ser122Ala)
c.337T>G (p.Ser113Ala)
1g.7984909C>ACA338167027PARK7c.425C>A (p.Ser142Tyr)
c.365C>A (p.Ser122Tyr)
c.338C>A (p.Ser113Tyr)
1g.7984909C=CA1152147372PARK7c.425C= (p.Ser142=)
c.365C= (p.Ser122=)
c.338C= (p.Ser113=)
1g.7984909C>GCA338167028PARK7c.425C>G (p.Ser142Cys)
c.365C>G (p.Ser122Cys)
c.338C>G (p.Ser113Cys)
1g.7984909C>TCA338167029PARK7c.425C>T (p.Ser142Phe)
c.365C>T (p.Ser122Phe)
c.338C>T (p.Ser113Phe)
ClinVar dbSNP gnomAD v4
1g.7984910T>ACA415839004PARK7c.426T>A (p.Ser142=)
c.366T>A (p.Ser122=)
c.339T>A (p.Ser113=)
1g.7984910T>CCA415839005PARK7c.426T>C (p.Ser142=)
c.366T>C (p.Ser122=)
c.339T>C (p.Ser113=)
1g.7984910T>GCA415839006PARK7c.426T>G (p.Ser142=)
c.366T>G (p.Ser122=)
c.339T>G (p.Ser113=)
1g.7984911G>ACA338167030PARK7c.427G>A (p.Glu143Lys)
c.367G>A (p.Glu123Lys)
c.340G>A (p.Glu114Lys)
1g.7984911G>CCA338167031PARK7c.427G>C (p.Glu143Gln)
c.367G>C (p.Glu123Gln)
c.340G>C (p.Glu114Gln)
dbSNP
1g.7984911G=CA1152147377PARK7c.427G= (p.Glu143=)
c.367G= (p.Glu123=)
c.340G= (p.Glu114=)
1g.7984911G>TCA338167032PARK7c.427G>T (p.Glu143Ter)
c.367G>T (p.Glu123Ter)
c.340G>T (p.Glu114Ter)
1g.7984912A>CCA338167033PARK7c.428A>C (p.Glu143Ala)
c.368A>C (p.Glu123Ala)
c.341A>C (p.Glu114Ala)
1g.7984912A>GCA338167034PARK7c.428A>G (p.Glu143Gly)
c.368A>G (p.Glu123Gly)
c.341A>G (p.Glu114Gly)
1g.7984912A>TCA338167035PARK7c.428A>T (p.Glu143Val)
c.368A>T (p.Glu123Val)
c.341A>T (p.Glu114Val)
1g.7984913G>ACA569619PARK7c.429G>A (p.Glu143=)
c.369G>A (p.Glu123=)
c.342G>A (p.Glu114=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984913G>CCA338167036PARK7c.429G>C (p.Glu143Asp)
c.369G>C (p.Glu123Asp)
c.342G>C (p.Glu114Asp)
1g.7984913G=CA1141747306PARK7c.429G= (p.Glu143=)
c.369G= (p.Glu123=)
c.342G= (p.Glu114=)
1g.7984913G>TCA338167037PARK7c.429G>T (p.Glu143Asp)
c.369G>T (p.Glu123Asp)
c.342G>T (p.Glu114Asp)
1g.7984914A>CCA338167040PARK7c.430A>C (p.Asn144His)
c.370A>C (p.Asn124His)
c.343A>C (p.Asn115His)
1g.7984914A>GCA338167038PARK7c.430A>G (p.Asn144Asp)
c.370A>G (p.Asn124Asp)
c.343A>G (p.Asn115Asp)
1g.7984914A>TCA338167039PARK7c.430A>T (p.Asn144Tyr)
c.370A>T (p.Asn124Tyr)
c.343A>T (p.Asn115Tyr)
1g.7984915A=CA1149120420PARK7c.431A= (p.Asn144=)
c.371A= (p.Asn124=)
c.344A= (p.Asn115=)
1g.7984915A>CCA338167041PARK7c.431A>C (p.Asn144Thr)
c.371A>C (p.Asn124Thr)
c.344A>C (p.Asn115Thr)
1g.7984915A>GCA569620PARK7c.431A>G (p.Asn144Ser)
c.371A>G (p.Asn124Ser)
c.344A>G (p.Asn115Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984915A>TCA338167042PARK7c.431A>T (p.Asn144Ile)
c.371A>T (p.Asn124Ile)
c.344A>T (p.Asn115Ile)
1g.7984916T>ACA338167043PARK7c.432T>A (p.Asn144Lys)
c.372T>A (p.Asn124Lys)
c.345T>A (p.Asn115Lys)
dbSNP gnomAD v2 gnomAD v4
1g.7984916T>CCA415839014PARK7c.432T>C (p.Asn144=)
c.372T>C (p.Asn124=)
c.345T>C (p.Asn115=)
gnomAD v4
1g.7984916T>GCA338167044PARK7c.432T>G (p.Asn144Lys)
c.372T>G (p.Asn124Lys)
c.345T>G (p.Asn115Lys)
1g.7984916T=CA1152147382PARK7c.432T= (p.Asn144=)
c.372T= (p.Asn124=)
c.345T= (p.Asn115=)
1g.7984916_7984917delinsTCCA1152147386PARK7c.432_433delinsTC (p.Asn144=)
c.372_373delinsTC (p.Asn124=)
c.345_346delinsTC (p.Asn115=)
1g.7984917delCA998307648PARK7c.433del (p.Arg145ValfsTer7)
c.373del (p.Arg125ValfsTer7)
c.346del (p.Arg116ValfsTer7)
dbSNP gnomAD v3 gnomAD v4
1g.7984917C>ACA17286812PARK7c.433C>A (p.Arg145Ser)
c.373C>A (p.Arg125Ser)
c.346C>A (p.Arg116Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7984917C=CA1152147387PARK7c.433C= (p.Arg145=)
c.373C= (p.Arg125=)
c.346C= (p.Arg116=)
1g.7984917C>GCA338167045PARK7c.433C>G (p.Arg145Gly)
c.373C>G (p.Arg125Gly)
c.346C>G (p.Arg116Gly)
gnomAD v4
1g.7984917C>TCA569621PARK7c.433C>T (p.Arg145Cys)
c.373C>T (p.Arg125Cys)
c.346C>T (p.Arg116Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984918G>ACA569622PARK7c.434G>A (p.Arg145His)
c.374G>A (p.Arg125His)
c.347G>A (p.Arg116His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984918G>CCA338167046PARK7c.434G>C (p.Arg145Pro)
c.374G>C (p.Arg125Pro)
c.347G>C (p.Arg116Pro)
dbSNP gnomAD v2 gnomAD v4
1g.7984918G=CA1142255632PARK7c.434G= (p.Arg145=)
c.374G= (p.Arg125=)
c.347G= (p.Arg116=)
1g.7984918G>TCA338167047PARK7c.434G>T (p.Arg145Leu)
c.374G>T (p.Arg125Leu)
c.347G>T (p.Arg116Leu)
1g.7984919T>ACA415839016PARK7c.435T>A (p.Arg145=)
c.375T>A (p.Arg125=)
c.348T>A (p.Arg116=)
1g.7984919T>CCA415839017PARK7c.435T>C (p.Arg145=)
c.375T>C (p.Arg125=)
c.348T>C (p.Arg116=)
1g.7984919T>GCA415839019PARK7c.435T>G (p.Arg145=)
c.375T>G (p.Arg125=)
c.348T>G (p.Arg116=)
1g.7984920G>ACA17286813PARK7c.436G>A (p.Val146Met)
c.376G>A (p.Val126Met)
c.349G>A (p.Val117Met)
ClinVar dbSNP gnomAD v2
1g.7984920G>CCA338167049PARK7c.436G>C (p.Val146Leu)
c.376G>C (p.Val126Leu)
c.349G>C (p.Val117Leu)
1g.7984920G=CA1144032736PARK7c.436G= (p.Val146=)
c.376G= (p.Val126=)
c.349G= (p.Val117=)
1g.7984920G>TCA338167048PARK7c.436G>T (p.Val146Leu)
c.376G>T (p.Val126Leu)
c.349G>T (p.Val117Leu)
dbSNP gnomAD v3 gnomAD v4
1g.7984921T>ACA338167050PARK7c.437T>A (p.Val146Glu)
c.377T>A (p.Val126Glu)
c.350T>A (p.Val117Glu)
1g.7984921T>CCA338167051PARK7c.437T>C (p.Val146Ala)
c.377T>C (p.Val126Ala)
c.350T>C (p.Val117Ala)
1g.7984921T>GCA569623PARK7c.437T>G (p.Val146Gly)
c.377T>G (p.Val126Gly)
c.350T>G (p.Val117Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984921T=CA1152147394PARK7c.437T= (p.Val146=)
c.377T= (p.Val126=)
c.350T= (p.Val117=)
1g.7984922G>ACA415839025PARK7c.438G>A (p.Val146=)
c.378G>A (p.Val126=)
c.351G>A (p.Val117=)
1g.7984922G>CCA415839024PARK7c.438G>C (p.Val146=)
c.378G>C (p.Val126=)
c.351G>C (p.Val117=)
1g.7984922G>TCA415839023PARK7c.438G>T (p.Val146=)
c.378G>T (p.Val126=)
c.351G>T (p.Val117=)
1g.7984923G>ACA338167052PARK7c.439G>A (p.Glu147Lys)
c.379G>A (p.Glu127Lys)
c.352G>A (p.Glu118Lys)
1g.7984923G>CCA338167054PARK7c.439G>C (p.Glu147Gln)
c.379G>C (p.Glu127Gln)
c.352G>C (p.Glu118Gln)
1g.7984923G=CA1152147400PARK7c.439G= (p.Glu147=)
c.379G= (p.Glu127=)
c.352G= (p.Glu118=)
1g.7984923G>TCA338167053PARK7c.439G>T (p.Glu147Ter)
c.379G>T (p.Glu127Ter)
c.352G>T (p.Glu118Ter)
1g.7984924A>CCA338167055PARK7c.440A>C (p.Glu147Ala)
c.380A>C (p.Glu127Ala)
c.353A>C (p.Glu118Ala)
1g.7984924A>GCA338167056PARK7c.440A>G (p.Glu147Gly)
c.380A>G (p.Glu127Gly)
c.353A>G (p.Glu118Gly)
1g.7984924A>TCA338167057PARK7c.440A>T (p.Glu147Val)
c.380A>T (p.Glu127Val)
c.353A>T (p.Glu118Val)
1g.7984928dupCA521019989PARK7c.444dup (p.Asp149ArgfsTer22)
c.384dup (p.Asp129ArgfsTer22)
c.357dup (p.Asp120ArgfsTer22)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.7984925A>CCA338167058PARK7c.441A>C (p.Glu147Asp)
c.381A>C (p.Glu127Asp)
c.354A>C (p.Glu118Asp)
1g.7984925A>GCA415839028PARK7c.441A>G (p.Glu147=)
c.381A>G (p.Glu127=)
c.354A>G (p.Glu118=)
gnomAD v4
1g.7984925A>TCA338167059PARK7c.441A>T (p.Glu147Asp)
c.381A>T (p.Glu127Asp)
c.354A>T (p.Glu118Asp)
1g.7984926A=CA1152147402PARK7c.442A= (p.Lys148=)
c.382A= (p.Lys128=)
c.355A= (p.Lys119=)
1g.7984926A>CCA338167060PARK7c.442A>C (p.Lys148Gln)
c.382A>C (p.Lys128Gln)
c.355A>C (p.Lys119Gln)
1g.7984926A>GCA338167061PARK7c.442A>G (p.Lys148Glu)
c.382A>G (p.Lys128Glu)
c.355A>G (p.Lys119Glu)
1g.7984926A>TCA338167062PARK7c.442A>T (p.Lys148Ter)
c.382A>T (p.Lys128Ter)
c.355A>T (p.Lys119Ter)
dbSNP gnomAD v3 gnomAD v4
1g.7984927A=CA1152147406PARK7c.443A= (p.Lys148=)
c.383A= (p.Lys128=)
c.356A= (p.Lys119=)
1g.7984927A>CCA338167063PARK7c.443A>C (p.Lys148Thr)
c.383A>C (p.Lys128Thr)
c.356A>C (p.Lys119Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7984927A>GCA338167064PARK7c.443A>G (p.Lys148Arg)
c.383A>G (p.Lys128Arg)
c.356A>G (p.Lys119Arg)
1g.7984927A>TCA338167065PARK7c.443A>T (p.Lys148Ile)
c.383A>T (p.Lys128Ile)
c.356A>T (p.Lys119Ile)
1g.7984928A=CA1152147411PARK7c.444A= (p.Lys148=)
c.384A= (p.Lys128=)
c.357A= (p.Lys119=)
1g.7984928A>CCA338167066PARK7c.444A>C (p.Lys148Asn)
c.384A>C (p.Lys128Asn)
c.357A>C (p.Lys119Asn)
1g.7984928A>GCA569624PARK7c.444A>G (p.Lys148=)
c.384A>G (p.Lys128=)
c.357A>G (p.Lys119=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984928A>TCA338167067PARK7c.444A>T (p.Lys148Asn)
c.384A>T (p.Lys128Asn)
c.357A>T (p.Lys119Asn)
1g.7984929G>ACA338167068PARK7c.445G>A (p.Asp149Asn)
c.385G>A (p.Asp129Asn)
c.358G>A (p.Asp120Asn)
gnomAD v4
1g.7984929G>CCA338167069PARK7c.445G>C (p.Asp149His)
c.385G>C (p.Asp129His)
c.358G>C (p.Asp120His)
1g.7984929G>TCA338167070PARK7c.445G>T (p.Asp149Tyr)
c.385G>T (p.Asp129Tyr)
c.358G>T (p.Asp120Tyr)
1g.7984930A=CA1140886315PARK7c.446A= (p.Asp149=)
c.386A= (p.Asp129=)
c.359A= (p.Asp120=)
1g.7984930A>CCA254094PARK7c.446A>C (p.Asp149Ala)
c.386A>C (p.Asp129Ala)
c.359A>C (p.Asp120Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984930A>GCA338167071PARK7c.446A>G (p.Asp149Gly)
c.386A>G (p.Asp129Gly)
c.359A>G (p.Asp120Gly)
1g.7984930A>TCA338167072PARK7c.446A>T (p.Asp149Val)
c.386A>T (p.Asp129Val)
c.359A>T (p.Asp120Val)
1g.7984931C>ACA338167073PARK7c.447C>A (p.Asp149Glu)
c.387C>A (p.Asp129Glu)
c.360C>A (p.Asp120Glu)
1g.7984931C=CA1142011312PARK7c.447C= (p.Asp149=)
c.387C= (p.Asp129=)
c.360C= (p.Asp120=)
1g.7984931C>GCA338167074PARK7c.447C>G (p.Asp149Glu)
c.387C>G (p.Asp129Glu)
c.360C>G (p.Asp120Glu)
1g.7984931C>TCA569625PARK7c.447C>T (p.Asp149=)
c.387C>T (p.Asp129=)
c.360C>T (p.Asp120=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984932G>ACA569626PARK7c.448G>A (p.Gly150Ser)
c.388G>A (p.Gly130Ser)
c.361G>A (p.Gly121Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984932G>CCA338167076PARK7c.448G>C (p.Gly150Arg)
c.388G>C (p.Gly130Arg)
c.361G>C (p.Gly121Arg)
gnomAD v4
1g.7984932G=CA1143596006PARK7c.448G= (p.Gly150=)
c.388G= (p.Gly130=)
c.361G= (p.Gly121=)
1g.7984932G>TCA338167075PARK7c.448G>T (p.Gly150Cys)
c.388G>T (p.Gly130Cys)
c.361G>T (p.Gly121Cys)
dbSNP gnomAD v3 gnomAD v4
1g.7984933G>ACA338167077PARK7c.449G>A (p.Gly150Asp)
c.389G>A (p.Gly130Asp)
c.362G>A (p.Gly121Asp)
dbSNP gnomAD v2 gnomAD v4
1g.7984933G>CCA338167078PARK7c.449G>C (p.Gly150Ala)
c.389G>C (p.Gly130Ala)
c.362G>C (p.Gly121Ala)
1g.7984933G=CA1152147441PARK7c.449G= (p.Gly150=)
c.389G= (p.Gly130=)
c.362G= (p.Gly121=)
1g.7984933G>TCA338167079PARK7c.449G>T (p.Gly150Val)
c.389G>T (p.Gly130Val)
c.362G>T (p.Gly121Val)
1g.7984934C>ACA415839041PARK7c.450C>A (p.Gly150=)
c.390C>A (p.Gly130=)
c.363C>A (p.Gly121=)
dbSNP gnomAD v2 gnomAD v4
1g.7984934C=CA1152147445PARK7c.450C= (p.Gly150=)
c.390C= (p.Gly130=)
c.363C= (p.Gly121=)
1g.7984934C>GCA415839042PARK7c.450C>G (p.Gly150=)
c.390C>G (p.Gly130=)
c.363C>G (p.Gly121=)
1g.7984934C>TCA415839043PARK7c.450C>T (p.Gly150=)
c.390C>T (p.Gly130=)
c.363C>T (p.Gly121=)
1g.7984935C>ACA338167080PARK7c.451C>A (p.Leu151Met)
c.391C>A (p.Leu131Met)
c.364C>A (p.Leu122Met)
1g.7984935C>GCA338167081PARK7c.451C>G (p.Leu151Val)
c.391C>G (p.Leu131Val)
c.364C>G (p.Leu122Val)
1g.7984935C>TCA415839044PARK7c.451C>T (p.Leu151=)
c.391C>T (p.Leu131=)
c.364C>T (p.Leu122=)
1g.7984936T>ACA338167082PARK7c.452T>A (p.Leu151Gln)
c.392T>A (p.Leu131Gln)
c.365T>A (p.Leu122Gln)
1g.7984936T>CCA338167083PARK7c.452T>C (p.Leu151Pro)
c.392T>C (p.Leu131Pro)
c.365T>C (p.Leu122Pro)
1g.7984936T>GCA338167084PARK7c.452T>G (p.Leu151Arg)
c.392T>G (p.Leu131Arg)
c.365T>G (p.Leu122Arg)
1g.7984937G>ACA415839048PARK7c.453G>A (p.Leu151=)
c.393G>A (p.Leu131=)
c.366G>A (p.Leu122=)
1g.7984937G>CCA569627PARK7c.453G>C (p.Leu151=)
c.393G>C (p.Leu131=)
c.366G>C (p.Leu122=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984937G=CA1152147449PARK7c.453G= (p.Leu151=)
c.393G= (p.Leu131=)
c.366G= (p.Leu122=)
1g.7984937G>TCA415839050PARK7c.453G>T (p.Leu151=)
c.393G>T (p.Leu131=)
c.366G>T (p.Leu122=)
1g.7984938A>CCA338167085PARK7c.454A>C (p.Ile152Leu)
c.394A>C (p.Ile132Leu)
c.367A>C (p.Ile123Leu)
1g.7984938A>GCA338167086PARK7c.454A>G (p.Ile152Val)
c.394A>G (p.Ile132Val)
c.367A>G (p.Ile123Val)
1g.7984938A>TCA338167087PARK7c.454A>T (p.Ile152Phe)
c.394A>T (p.Ile132Phe)
c.367A>T (p.Ile123Phe)
1g.7984939T>ACA338167090PARK7c.455T>A (p.Ile152Asn)
c.395T>A (p.Ile132Asn)
c.368T>A (p.Ile123Asn)
1g.7984939T>CCA338167088PARK7c.455T>C (p.Ile152Thr)
c.395T>C (p.Ile132Thr)
c.368T>C (p.Ile123Thr)
1g.7984939T>GCA338167089PARK7c.455T>G (p.Ile152Ser)
c.395T>G (p.Ile132Ser)
c.368T>G (p.Ile123Ser)
1g.7984940T>ACA415839052PARK7c.456T>A (p.Ile152=)
c.396T>A (p.Ile132=)
c.369T>A (p.Ile123=)
1g.7984940T>CCA415839054PARK7c.456T>C (p.Ile152=)
c.396T>C (p.Ile132=)
c.369T>C (p.Ile123=)
1g.7984940T>GCA338167091PARK7c.456T>G (p.Ile152Met)
c.396T>G (p.Ile132Met)
c.369T>G (p.Ile123Met)
1g.7984941C>ACA338167092PARK7c.457C>A (p.Leu153Ile)
c.397C>A (p.Leu133Ile)
c.370C>A (p.Leu124Ile)
1g.7984941C>GCA338167093PARK7c.457C>G (p.Leu153Val)
c.397C>G (p.Leu133Val)
c.370C>G (p.Leu124Val)
1g.7984941C>TCA338167094PARK7c.457C>T (p.Leu153Phe)
c.397C>T (p.Leu133Phe)
c.370C>T (p.Leu124Phe)
1g.7984942T>ACA338167095PARK7c.458T>A (p.Leu153His)
c.398T>A (p.Leu133His)
c.371T>A (p.Leu124His)
1g.7984942T>CCA338167096PARK7c.458T>C (p.Leu153Pro)
c.398T>C (p.Leu133Pro)
c.371T>C (p.Leu124Pro)
dbSNP
1g.7984942T>GCA338167097PARK7c.458T>G (p.Leu153Arg)
c.398T>G (p.Leu133Arg)
c.371T>G (p.Leu124Arg)
gnomAD v4
1g.7984942T=CA1152147452PARK7c.458T= (p.Leu153=)
c.398T= (p.Leu133=)
c.371T= (p.Leu124=)
1g.7984943T>ACA415839057PARK7c.459T>A (p.Leu153=)
c.399T>A (p.Leu133=)
c.372T>A (p.Leu124=)
dbSNP
1g.7984943T>CCA415839059PARK7c.459T>C (p.Leu153=)
c.399T>C (p.Leu133=)
c.372T>C (p.Leu124=)
1g.7984943T>GCA415839061PARK7c.459T>G (p.Leu153=)
c.399T>G (p.Leu133=)
c.372T>G (p.Leu124=)
1g.7984944A=CA1152147457PARK7c.460A= (p.Thr154=)
c.400A= (p.Thr134=)
c.373A= (p.Thr125=)
1g.7984944A>CCA338167098PARK7c.460A>C (p.Thr154Pro)
c.400A>C (p.Thr134Pro)
c.373A>C (p.Thr125Pro)
1g.7984944A>GCA338167099PARK7c.460A>G (p.Thr154Ala)
c.400A>G (p.Thr134Ala)
c.373A>G (p.Thr125Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.7984944A>TCA338167100PARK7c.460A>T (p.Thr154Ser)
c.400A>T (p.Thr134Ser)
c.373A>T (p.Thr125Ser)
1g.7984945delCA2574198760PARK7c.461del (p.Thr154LysfsTer19)
c.401del (p.Thr134LysfsTer19)
c.374del (p.Thr125LysfsTer19)
1g.7984945C>ACA338167101PARK7c.461C>A (p.Thr154Lys)
c.401C>A (p.Thr134Lys)
c.374C>A (p.Thr125Lys)
dbSNP gnomAD v3 gnomAD v4
1g.7984945C=CA1152147465PARK7c.461C= (p.Thr154=)
c.401C= (p.Thr134=)
c.374C= (p.Thr125=)
1g.7984945C>GCA338167102PARK7c.461C>G (p.Thr154Arg)
c.401C>G (p.Thr134Arg)
c.374C>G (p.Thr125Arg)
dbSNP gnomAD v2 gnomAD v4
1g.7984945C>TCA338167103PARK7c.461C>T (p.Thr154Ile)
c.401C>T (p.Thr134Ile)
c.374C>T (p.Thr125Ile)
gnomAD v4
1g.7984946A>CCA415839063PARK7c.462A>C (p.Thr154=)
c.402A>C (p.Thr134=)
c.375A>C (p.Thr125=)
1g.7984946A>GCA415839064PARK7c.462A>G (p.Thr154=)
c.402A>G (p.Thr134=)
c.375A>G (p.Thr125=)
1g.7984946A>TCA415839066PARK7c.462A>T (p.Thr154=)
c.402A>T (p.Thr134=)
c.375A>T (p.Thr125=)
1g.7984947A>CCA338167105PARK7c.463A>C (p.Ser155Arg)
c.403A>C (p.Ser135Arg)
c.376A>C (p.Ser126Arg)
1g.7984947A>GCA338167106PARK7c.463A>G (p.Ser155Gly)
c.403A>G (p.Ser135Gly)
c.376A>G (p.Ser126Gly)
gnomAD v4
1g.7984947A>TCA338167104PARK7c.463A>T (p.Ser155Cys)
c.403A>T (p.Ser135Cys)
c.376A>T (p.Ser126Cys)
gnomAD v4
1g.7984948G>ACA338167109PARK7c.464G>A (p.Ser155Asn)
c.404G>A (p.Ser135Asn)
c.377G>A (p.Ser126Asn)
1g.7984948G>CCA338167107PARK7c.464G>C (p.Ser155Thr)
c.404G>C (p.Ser135Thr)
c.377G>C (p.Ser126Thr)
1g.7984948G>TCA338167108PARK7c.464G>T (p.Ser155Ile)
c.404G>T (p.Ser135Ile)
c.377G>T (p.Ser126Ile)
1g.7984949C>ACA338167110PARK7c.465C>A (p.Ser155Arg)
c.405C>A (p.Ser135Arg)
c.378C>A (p.Ser126Arg)
1g.7984949C>GCA338167111PARK7c.465C>G (p.Ser155Arg)
c.405C>G (p.Ser135Arg)
c.378C>G (p.Ser126Arg)
1g.7984949C>TCA415839071PARK7c.465C>T (p.Ser155=)
c.405C>T (p.Ser135=)
c.378C>T (p.Ser126=)
1g.7984950C>ACA415839073PARK7c.466C>A (p.Arg156=)
c.406C>A (p.Arg136=)
c.379C>A (p.Arg127=)
1g.7984950C=CA1140731567PARK7c.466C= (p.Arg156=)
c.406C= (p.Arg136=)
c.379C= (p.Arg127=)
1g.7984950C>GCA338167112PARK7c.466C>G (p.Arg156Gly)
c.406C>G (p.Arg136Gly)
c.379C>G (p.Arg127Gly)
gnomAD v4 COSMIC
1g.7984950C>TCA569628PARK7c.466C>T (p.Arg156Trp)
c.406C>T (p.Arg136Trp)
c.379C>T (p.Arg127Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984951G>ACA569629PARK7c.467G>A (p.Arg156Gln)
c.407G>A (p.Arg136Gln)
c.380G>A (p.Arg127Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7984951G>CCA338167113PARK7c.467G>C (p.Arg156Pro)
c.407G>C (p.Arg136Pro)
c.380G>C (p.Arg127Pro)
gnomAD v4
1g.7984951G=CA1152147471PARK7c.467G= (p.Arg156=)
c.407G= (p.Arg136=)
c.380G= (p.Arg127=)
1g.7984951G>TCA338167114PARK7c.467G>T (p.Arg156Leu)
c.407G>T (p.Arg136Leu)
c.380G>T (p.Arg127Leu)
1g.7984955dupCA2574198761PARK7c.471dup (p.Pro158AlafsTer13)
c.411dup (p.Pro138AlafsTer13)
c.384dup (p.Pro129AlafsTer13)
1g.7984952G>ACA415839079PARK7c.468G>A (p.Arg156=)
c.408G>A (p.Arg136=)
c.381G>A (p.Arg127=)
1g.7984952G>CCA415839078PARK7c.468G>C (p.Arg156=)
c.408G>C (p.Arg136=)
c.381G>C (p.Arg127=)
1g.7984952G>TCA415839077PARK7c.468G>T (p.Arg156=)
c.408G>T (p.Arg136=)
c.381G>T (p.Arg127=)
gnomAD v4
1g.7984953G>ACA338167115PARK7c.469G>A (p.Gly157Arg)
c.409G>A (p.Gly137Arg)
c.382G>A (p.Gly128Arg)
1g.7984953G>CCA338167116PARK7c.469G>C (p.Gly157Arg)
c.409G>C (p.Gly137Arg)
c.382G>C (p.Gly128Arg)
dbSNP
1g.7984953G=CA1152147478PARK7c.469G= (p.Gly157=)
c.409G= (p.Gly137=)
c.382G= (p.Gly128=)
1g.7984953G>TCA338167117PARK7c.469G>T (p.Gly157Trp)
c.409G>T (p.Gly137Trp)
c.382G>T (p.Gly128Trp)
gnomAD v4
1g.7984954G>ACA338167120PARK7c.470G>A (p.Gly157Glu)
c.410G>A (p.Gly137Glu)
c.383G>A (p.Gly128Glu)
gnomAD v4
1g.7984954G>CCA338167118PARK7c.470G>C (p.Gly157Ala)
c.410G>C (p.Gly137Ala)
c.383G>C (p.Gly128Ala)
dbSNP gnomAD v2 gnomAD v4
1g.7984954G=CA1152147486PARK7c.470G= (p.Gly157=)
c.410G= (p.Gly137=)
c.383G= (p.Gly128=)
1g.7984954G>TCA338167119PARK7c.470G>T (p.Gly157Val)
c.410G>T (p.Gly137Val)
c.383G>T (p.Gly128Val)
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

Number of alleles fetched