Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7984955dup | CA2574198761 | PARK7 | c.471dup (p.Pro158AlafsTer13) c.411dup (p.Pro138AlafsTer13) c.384dup (p.Pro129AlafsTer13) | |
1 | g.7984953G>A | CA338167115 | PARK7 | c.469G>A (p.Gly157Arg) c.409G>A (p.Gly137Arg) c.382G>A (p.Gly128Arg) | |
1 | g.7984953G>C | CA338167116 | PARK7 | c.469G>C (p.Gly157Arg) c.409G>C (p.Gly137Arg) c.382G>C (p.Gly128Arg) | dbSNP |
1 | g.7984953G= | CA1152147478 | PARK7 | c.469G= (p.Gly157=) c.409G= (p.Gly137=) c.382G= (p.Gly128=) | |
1 | g.7984953G>T | CA338167117 | PARK7 | c.469G>T (p.Gly157Trp) c.409G>T (p.Gly137Trp) c.382G>T (p.Gly128Trp) | gnomAD v4 |
1 | g.7984954G>A | CA338167120 | PARK7 | c.470G>A (p.Gly157Glu) c.410G>A (p.Gly137Glu) c.383G>A (p.Gly128Glu) | gnomAD v4 |
1 | g.7984954G>C | CA338167118 | PARK7 | c.470G>C (p.Gly157Ala) c.410G>C (p.Gly137Ala) c.383G>C (p.Gly128Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984954G= | CA1152147486 | PARK7 | c.470G= (p.Gly157=) c.410G= (p.Gly137=) c.383G= (p.Gly128=) | |
1 | g.7984954G>T | CA338167119 | PARK7 | c.470G>T (p.Gly157Val) c.410G>T (p.Gly137Val) c.383G>T (p.Gly128Val) | |
1 | g.7984954_7984957delinsGGCC | CA1152147485 | PARK7 | c.470_473delinsGGCC (p.Gly157=) c.410_413delinsGGCC (p.Gly137=) c.383_386delinsGGCC (p.Gly128=) | |
1 | g.7984955G>A | CA415839089 | PARK7 | c.471G>A (p.Gly157=) c.411G>A (p.Gly137=) c.384G>A (p.Gly128=) | |
1 | g.7984955G>C | CA415839086 | PARK7 | c.471G>C (p.Gly157=) c.411G>C (p.Gly137=) c.384G>C (p.Gly128=) | |
1 | g.7984955G>T | CA415839088 | PARK7 | c.471G>T (p.Gly157=) c.411G>T (p.Gly137=) c.384G>T (p.Gly128=) | |
1 | g.7984955_7984957del | CA569630 | PARK7 | c.471_473del (p.Pro158del) c.411_413del (p.Pro138del) c.384_386del (p.Pro129del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984956C>A | CA338167121 | PARK7 | c.472C>A (p.Pro158Thr) c.412C>A (p.Pro138Thr) c.385C>A (p.Pro129Thr) | |
1 | g.7984956C= | CA1152147497 | PARK7 | c.472C= (p.Pro158=) c.412C= (p.Pro138=) c.385C= (p.Pro129=) | |
1 | g.7984956C>G | CA338167122 | PARK7 | c.472C>G (p.Pro158Ala) c.412C>G (p.Pro138Ala) c.385C>G (p.Pro129Ala) | |
1 | g.7984956C>T | CA338167123 | PARK7 | c.472C>T (p.Pro158Ser) c.412C>T (p.Pro138Ser) c.385C>T (p.Pro129Ser) | dbSNP |
1 | g.7984956_7984958del | CA338167124 | PARK7 | c.472_474del (p.Pro158del) c.412_414del (p.Pro138del) c.385_387del (p.Pro129del) | |
1 | g.7984957C>A | CA338167125 | PARK7 | c.473C>A (p.Pro158His) c.413C>A (p.Pro138His) c.386C>A (p.Pro129His) | |
1 | g.7984957C>G | CA338167126 | PARK7 | c.473C>G (p.Pro158Arg) c.413C>G (p.Pro138Arg) c.386C>G (p.Pro129Arg) | |
1 | g.7984957C>T | CA338167127 | PARK7 | c.473C>T (p.Pro158Leu) c.413C>T (p.Pro138Leu) c.386C>T (p.Pro129Leu) | |
1 | g.7984958T>A | CA415839093 | PARK7 | c.474T>A (p.Pro158=) c.414T>A (p.Pro138=) c.387T>A (p.Pro129=) | |
1 | g.7984958T>C | CA569631 | PARK7 | c.474T>C (p.Pro158=) c.414T>C (p.Pro138=) c.387T>C (p.Pro129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984958T>G | CA415839094 | PARK7 | c.474T>G (p.Pro158=) c.414T>G (p.Pro138=) c.387T>G (p.Pro129=) | |
1 | g.7984958T= | CA1152147502 | PARK7 | c.474T= (p.Pro158=) c.414T= (p.Pro138=) c.387T= (p.Pro129=) | |
1 | g.7984959G>A | CA338167128 | PARK7 | c.475G>A (p.Gly159Arg) c.415G>A (p.Gly139Arg) c.388G>A (p.Gly130Arg) | |
1 | g.7984959G>C | CA338167129 | PARK7 | c.475G>C (p.Gly159Arg) c.415G>C (p.Gly139Arg) c.388G>C (p.Gly130Arg) | |
1 | g.7984959G>T | CA338167130 | PARK7 | c.475G>T (p.Gly159Trp) c.415G>T (p.Gly139Trp) c.388G>T (p.Gly130Trp) | |
1 | g.7984960G>A | CA338167132 | PARK7 | c.476G>A (p.Gly159Glu) c.416G>A (p.Gly139Glu) c.389G>A (p.Gly130Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984960G>C | CA338167133 | PARK7 | c.476G>C (p.Gly159Ala) c.416G>C (p.Gly139Ala) c.389G>C (p.Gly130Ala) | |
1 | g.7984960G= | CA1152147509 | PARK7 | c.476G= (p.Gly159=) c.416G= (p.Gly139=) c.389G= (p.Gly130=) | |
1 | g.7984960G>T | CA338167131 | PARK7 | c.476G>T (p.Gly159Val) c.416G>T (p.Gly139Val) c.389G>T (p.Gly130Val) | |
1 | g.7984961G>A | CA415839099 | PARK7 | c.477G>A (p.Gly159=) c.417G>A (p.Gly139=) c.390G>A (p.Gly130=) | gnomAD v4 |
1 | g.7984961G>C | CA415839100 | PARK7 | c.477G>C (p.Gly159=) c.417G>C (p.Gly139=) c.390G>C (p.Gly130=) | |
1 | g.7984961G>T | CA415839101 | PARK7 | c.477G>T (p.Gly159=) c.417G>T (p.Gly139=) c.390G>T (p.Gly130=) | |
1 | g.7984962A= | CA1152147517 | PARK7 | c.478A= (p.Thr160=) c.418A= (p.Thr140=) c.391A= (p.Thr131=) | |
1 | g.7984962A>C | CA338167134 | PARK7 | c.478A>C (p.Thr160Pro) c.418A>C (p.Thr140Pro) c.391A>C (p.Thr131Pro) | |
1 | g.7984962A>G | CA338167135 | PARK7 | c.478A>G (p.Thr160Ala) c.418A>G (p.Thr140Ala) c.391A>G (p.Thr131Ala) | |
1 | g.7984962A>T | CA17286814 | PARK7 | c.478A>T (p.Thr160Ser) c.418A>T (p.Thr140Ser) c.391A>T (p.Thr131Ser) | dbSNP |
1 | g.7984963C>A | CA338167136 | PARK7 | c.479C>A (p.Thr160Asn) c.419C>A (p.Thr140Asn) c.392C>A (p.Thr131Asn) | |
1 | g.7984963C= | CA1152147520 | PARK7 | c.479C= (p.Thr160=) c.419C= (p.Thr140=) c.392C= (p.Thr131=) | |
1 | g.7984963C>G | CA338167137 | PARK7 | c.479C>G (p.Thr160Ser) c.419C>G (p.Thr140Ser) c.392C>G (p.Thr131Ser) | dbSNP gnomAD v4 |
1 | g.7984963C>T | CA338167138 | PARK7 | c.479C>T (p.Thr160Ile) c.419C>T (p.Thr140Ile) c.392C>T (p.Thr131Ile) | |
1 | g.7984964C>A | CA569632 | PARK7 | c.480C>A (p.Thr160=) c.420C>A (p.Thr140=) c.393C>A (p.Thr131=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984964C= | CA1143720450 | PARK7 | c.480C= (p.Thr160=) c.420C= (p.Thr140=) c.393C= (p.Thr131=) | |
1 | g.7984964C>G | CA415839104 | PARK7 | c.480C>G (p.Thr160=) c.420C>G (p.Thr140=) c.393C>G (p.Thr131=) | |
1 | g.7984964C>T | CA17286815 | PARK7 | c.480C>T (p.Thr160=) c.420C>T (p.Thr140=) c.393C>T (p.Thr131=) | dbSNP |
1 | g.7984965A>C | CA338167139 | PARK7 | c.481A>C (p.Ser161Arg) c.421A>C (p.Ser141Arg) c.394A>C (p.Ser132Arg) | |
1 | g.7984965A>G | CA338167140 | PARK7 | c.481A>G (p.Ser161Gly) c.421A>G (p.Ser141Gly) c.394A>G (p.Ser132Gly) | |
1 | g.7984965A>T | CA338167141 | PARK7 | c.481A>T (p.Ser161Cys) c.421A>T (p.Ser141Cys) c.394A>T (p.Ser132Cys) | |
1 | g.7984966G>A | CA338167142 | PARK7 | c.482G>A (p.Ser161Asn) c.422G>A (p.Ser141Asn) c.395G>A (p.Ser132Asn) | |
1 | g.7984966G>C | CA338167143 | PARK7 | c.482G>C (p.Ser161Thr) c.422G>C (p.Ser141Thr) c.395G>C (p.Ser132Thr) | ClinVar gnomAD v4 |
1 | g.7984966G>T | CA338167144 | PARK7 | c.482G>T (p.Ser161Ile) c.422G>T (p.Ser141Ile) c.395G>T (p.Ser132Ile) | |
1 | g.7984967C>A | CA338167146 | PARK7 | c.483C>A (p.Ser161Arg) c.423C>A (p.Ser141Arg) c.396C>A (p.Ser132Arg) | |
1 | g.7984967C= | CA1152147531 | PARK7 | c.483C= (p.Ser161=) c.423C= (p.Ser141=) c.396C= (p.Ser132=) | |
1 | g.7984967C>G | CA338167145 | PARK7 | c.483C>G (p.Ser161Arg) c.423C>G (p.Ser141Arg) c.396C>G (p.Ser132Arg) | |
1 | g.7984967C>T | CA415839109 | PARK7 | c.483C>T (p.Ser161=) c.423C>T (p.Ser141=) c.396C>T (p.Ser132=) | dbSNP |
1 | g.7984968T>A | CA338167147 | PARK7 | c.484T>A (p.Phe162Ile) c.424T>A (p.Phe142Ile) c.397T>A (p.Phe133Ile) | |
1 | g.7984968T>C | CA338167148 | PARK7 | c.484T>C (p.Phe162Leu) c.424T>C (p.Phe142Leu) c.397T>C (p.Phe133Leu) | gnomAD v4 |
1 | g.7984968T>G | CA338167149 | PARK7 | c.484T>G (p.Phe162Val) c.424T>G (p.Phe142Val) c.397T>G (p.Phe133Val) | |
1 | g.7984969T>A | CA338167150 | PARK7 | c.485T>A (p.Phe162Tyr) c.425T>A (p.Phe142Tyr) c.398T>A (p.Phe133Tyr) | |
1 | g.7984969T>C | CA338167151 | PARK7 | c.485T>C (p.Phe162Ser) c.425T>C (p.Phe142Ser) c.398T>C (p.Phe133Ser) | gnomAD v4 |
1 | g.7984969T>G | CA338167152 | PARK7 | c.485T>G (p.Phe162Cys) c.425T>G (p.Phe142Cys) c.398T>G (p.Phe133Cys) | |
1 | g.7984970C>A | CA338167154 | PARK7 | c.486C>A (p.Phe162Leu) c.426C>A (p.Phe142Leu) c.399C>A (p.Phe133Leu) | |
1 | g.7984970C= | CA1152147540 | PARK7 | c.486C= (p.Phe162=) c.426C= (p.Phe142=) c.399C= (p.Phe133=) | |
1 | g.7984970C>G | CA338167153 | PARK7 | c.486C>G (p.Phe162Leu) c.426C>G (p.Phe142Leu) c.399C>G (p.Phe133Leu) | |
1 | g.7984970C>T | CA569633 | PARK7 | c.486C>T (p.Phe162=) c.426C>T (p.Phe142=) c.399C>T (p.Phe133=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.7984971G>A | CA030200 | PARK7 | c.487G>A (p.Glu163Lys) c.427G>A (p.Glu143Lys) c.400G>A (p.Glu134Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984971G>C | CA338167155 | PARK7 | c.487G>C (p.Glu163Gln) c.427G>C (p.Glu143Gln) c.400G>C (p.Glu134Gln) | dbSNP gnomAD v4 |
1 | g.7984971G= | CA1140886317 | PARK7 | c.487G= (p.Glu163=) c.427G= (p.Glu143=) c.400G= (p.Glu134=) | |
1 | g.7984971G>T | CA338167156 | PARK7 | c.487G>T (p.Glu163Ter) c.427G>T (p.Glu143Ter) c.400G>T (p.Glu134Ter) | |
1 | g.7984972A>C | CA338167157 | PARK7 | c.488A>C (p.Glu163Ala) c.428A>C (p.Glu143Ala) c.401A>C (p.Glu134Ala) | |
1 | g.7984972A>G | CA338167158 | PARK7 | c.488A>G (p.Glu163Gly) c.428A>G (p.Glu143Gly) c.401A>G (p.Glu134Gly) | |
1 | g.7984972A>T | CA338167159 | PARK7 | c.488A>T (p.Glu163Val) c.428A>T (p.Glu143Val) c.401A>T (p.Glu134Val) | |
1 | g.7984973G>A | CA569634 | PARK7 | c.489G>A (p.Glu163=) c.429G>A (p.Glu143=) c.402G>A (p.Glu134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984973G>C | CA338167161 | PARK7 | c.489G>C (p.Glu163Asp) c.429G>C (p.Glu143Asp) c.402G>C (p.Glu134Asp) | |
1 | g.7984973G= | CA1152147553 | PARK7 | c.489G= (p.Glu163=) c.429G= (p.Glu143=) c.402G= (p.Glu134=) | |
1 | g.7984973G>T | CA338167160 | PARK7 | c.489G>T (p.Glu163Asp) c.429G>T (p.Glu143Asp) c.402G>T (p.Glu134Asp) | |
1 | g.7984974T>A | CA338167163 | PARK7 | c.490T>A (p.Phe164Ile) c.430T>A (p.Phe144Ile) c.403T>A (p.Phe135Ile) | |
1 | g.7984974T>C | CA338167162 | PARK7 | c.490T>C (p.Phe164Leu) c.430T>C (p.Phe144Leu) c.403T>C (p.Phe135Leu) | gnomAD v4 |
1 | g.7984974T>G | CA338167164 | PARK7 | c.490T>G (p.Phe164Val) c.430T>G (p.Phe144Val) c.403T>G (p.Phe135Val) | |
1 | g.7984975T>A | CA338167165 | PARK7 | c.491T>A (p.Phe164Tyr) c.431T>A (p.Phe144Tyr) c.404T>A (p.Phe135Tyr) | |
1 | g.7984975T>C | CA338167167 | PARK7 | c.491T>C (p.Phe164Ser) c.431T>C (p.Phe144Ser) c.404T>C (p.Phe135Ser) | |
1 | g.7984975T>G | CA338167166 | PARK7 | c.491T>G (p.Phe164Cys) c.431T>G (p.Phe144Cys) c.404T>G (p.Phe135Cys) | COSMIC |
1 | g.7984976T>A | CA338167168 | PARK7 | c.492T>A (p.Phe164Leu) c.432T>A (p.Phe144Leu) c.405T>A (p.Phe135Leu) | |
1 | g.7984976T>C | CA415839117 | PARK7 | c.492T>C (p.Phe164=) c.432T>C (p.Phe144=) c.405T>C (p.Phe135=) | |
1 | g.7984976T>G | CA569635 | PARK7 | c.492T>G (p.Phe164Leu) c.432T>G (p.Phe144Leu) c.405T>G (p.Phe135Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984976T= | CA1152147560 | PARK7 | c.492T= (p.Phe164=) c.432T= (p.Phe144=) c.405T= (p.Phe135=) | |
1 | g.7984977G>A | CA338167169 | PARK7 | c.493G>A (p.Ala165Thr) c.433G>A (p.Ala145Thr) c.406G>A (p.Ala136Thr) | |
1 | g.7984977G>C | CA338167171 | PARK7 | c.493G>C (p.Ala165Pro) c.433G>C (p.Ala145Pro) c.406G>C (p.Ala136Pro) | |
1 | g.7984977G>T | CA338167170 | PARK7 | c.493G>T (p.Ala165Ser) c.433G>T (p.Ala145Ser) c.406G>T (p.Ala136Ser) | |
1 | g.7984978C>A | CA338167172 | PARK7 | c.494C>A (p.Ala165Glu) c.434C>A (p.Ala145Glu) c.407C>A (p.Ala136Glu) | |
1 | g.7984978C= | CA1143800528 | PARK7 | c.494C= (p.Ala165=) c.434C= (p.Ala145=) c.407C= (p.Ala136=) | |
1 | g.7984978C>G | CA338167173 | PARK7 | c.494C>G (p.Ala165Gly) c.434C>G (p.Ala145Gly) c.407C>G (p.Ala136Gly) | |
1 | g.7984978C>T | CA569636 | PARK7 | c.494C>T (p.Ala165Val) c.434C>T (p.Ala145Val) c.407C>T (p.Ala136Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7984979G>A | CA569637 | PARK7 | c.495G>A (p.Ala165=) c.435G>A (p.Ala145=) c.408G>A (p.Ala136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984979G>C | CA415839120 | PARK7 | c.495G>C (p.Ala165=) c.435G>C (p.Ala145=) c.408G>C (p.Ala136=) | gnomAD v4 |
1 | g.7984979G= | CA1152147563 | PARK7 | c.495G= (p.Ala165=) c.435G= (p.Ala145=) c.408G= (p.Ala136=) | |
1 | g.7984979G>T | CA569638 | PARK7 | c.495G>T (p.Ala165=) c.435G>T (p.Ala145=) c.408G>T (p.Ala136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984980C>A | CA338167174 | PARK7 | c.496C>A (p.Leu166Ile) c.436C>A (p.Leu146Ile) c.409C>A (p.Leu137Ile) | |
1 | g.7984980C>G | CA338167175 | PARK7 | c.496C>G (p.Leu166Val) c.436C>G (p.Leu146Val) c.409C>G (p.Leu137Val) | |
1 | g.7984980C>T | CA338167176 | PARK7 | c.496C>T (p.Leu166Phe) c.436C>T (p.Leu146Phe) c.409C>T (p.Leu137Phe) | |
1 | g.7984981T>A | CA338167177 | PARK7 | c.497T>A (p.Leu166His) c.437T>A (p.Leu146His) c.410T>A (p.Leu137His) | |
1 | g.7984981T>C | CA254090 | PARK7 | c.497T>C (p.Leu166Pro) c.437T>C (p.Leu146Pro) c.410T>C (p.Leu137Pro) | ClinVar dbSNP |
1 | g.7984981T>G | CA338167178 | PARK7 | c.497T>G (p.Leu166Arg) c.437T>G (p.Leu146Arg) c.410T>G (p.Leu137Arg) | |
1 | g.7984981T= | CA1140495402 | PARK7 | c.497T= (p.Leu166=) c.437T= (p.Leu146=) c.410T= (p.Leu137=) | |
1 | g.7984982T>A | CA415839122 | PARK7 | c.498T>A (p.Leu166=) c.438T>A (p.Leu146=) c.411T>A (p.Leu137=) | |
1 | g.7984982T>C | CA415839123 | PARK7 | c.498T>C (p.Leu166=) c.438T>C (p.Leu146=) c.411T>C (p.Leu137=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984982T>G | CA415839124 | PARK7 | c.498T>G (p.Leu166=) c.438T>G (p.Leu146=) c.411T>G (p.Leu137=) | |
1 | g.7984982T= | CA1152147574 | PARK7 | c.498T= (p.Leu166=) c.438T= (p.Leu146=) c.411T= (p.Leu137=) | |
1 | g.7984983G>A | CA569639 | PARK7 | c.499G>A (p.Ala167Thr) c.439G>A (p.Ala147Thr) c.412G>A (p.Ala138Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984983G>C | CA338167180 | PARK7 | c.499G>C (p.Ala167Pro) c.439G>C (p.Ala147Pro) c.412G>C (p.Ala138Pro) | |
1 | g.7984983G= | CA1148731310 | PARK7 | c.499G= (p.Ala167=) c.439G= (p.Ala147=) c.412G= (p.Ala138=) | |
1 | g.7984983G>T | CA338167179 | PARK7 | c.499G>T (p.Ala167Ser) c.439G>T (p.Ala147Ser) c.412G>T (p.Ala138Ser) | |
1 | g.7984983dup | CA739208571 | PARK7 | c.499dup (p.Ala167GlyfsTer4) c.439dup (p.Ala147GlyfsTer4) c.412dup (p.Ala138GlyfsTer4) | dbSNP gnomAD v4 |
1 | g.7984984C>A | CA338167181 | PARK7 | c.500C>A (p.Ala167Glu) c.440C>A (p.Ala147Glu) c.413C>A (p.Ala138Glu) | |
1 | g.7984984C= | CA1152147578 | PARK7 | c.500C= (p.Ala167=) c.440C= (p.Ala147=) c.413C= (p.Ala138=) | |
1 | g.7984984C>G | CA10611663 | PARK7 | c.500C>G (p.Ala167Gly) c.440C>G (p.Ala147Gly) c.413C>G (p.Ala138Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.7984984C>T | CA338167182 | PARK7 | c.500C>T (p.Ala167Val) c.440C>T (p.Ala147Val) c.413C>T (p.Ala138Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984985A= | CA1140795497 | PARK7 | c.501A= (p.Ala167=) c.441A= (p.Ala147=) c.414A= (p.Ala138=) | |
1 | g.7984985A>C | CA415839125 | PARK7 | c.501A>C (p.Ala167=) c.441A>C (p.Ala147=) c.414A>C (p.Ala138=) | gnomAD v4 |
1 | g.7984985A>G | CA569640 | PARK7 | c.501A>G (p.Ala167=) c.441A>G (p.Ala147=) c.414A>G (p.Ala138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984985A>T | CA415839127 | PARK7 | c.501A>T (p.Ala167=) c.441A>T (p.Ala147=) c.414A>T (p.Ala138=) | |
1 | g.7984986A= | CA1144028789 | PARK7 | c.502A= (p.Ile168=) c.442A= (p.Ile148=) c.415A= (p.Ile139=) | |
1 | g.7984986A>C | CA338167183 | PARK7 | c.502A>C (p.Ile168Leu) c.442A>C (p.Ile148Leu) c.415A>C (p.Ile139Leu) | |
1 | g.7984986A>G | CA569641 | PARK7 | c.502A>G (p.Ile168Val) c.442A>G (p.Ile148Val) c.415A>G (p.Ile139Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984986A>T | CA338167184 | PARK7 | c.502A>T (p.Ile168Phe) c.442A>T (p.Ile148Phe) c.415A>T (p.Ile139Phe) | |
1 | g.7984987T>A | CA338167185 | PARK7 | c.503T>A (p.Ile168Asn) c.443T>A (p.Ile148Asn) c.416T>A (p.Ile139Asn) | |
1 | g.7984987T>C | CA338167186 | PARK7 | c.503T>C (p.Ile168Thr) c.443T>C (p.Ile148Thr) c.416T>C (p.Ile139Thr) | |
1 | g.7984987T>G | CA338167187 | PARK7 | c.503T>G (p.Ile168Ser) c.443T>G (p.Ile148Ser) c.416T>G (p.Ile139Ser) | |
1 | g.7984988T>A | CA415839132 | PARK7 | c.504T>A (p.Ile168=) c.444T>A (p.Ile148=) c.417T>A (p.Ile139=) | |
1 | g.7984988T>C | CA415839133 | PARK7 | c.504T>C (p.Ile168=) c.444T>C (p.Ile148=) c.417T>C (p.Ile139=) | |
1 | g.7984988T>G | CA338167188 | PARK7 | c.504T>G (p.Ile168Met) c.444T>G (p.Ile148Met) c.417T>G (p.Ile139Met) | |
1 | g.7984989G>A | CA338167191 | PARK7 | c.505G>A (p.Val169Ile) c.445G>A (p.Val149Ile) c.418G>A (p.Val140Ile) | |
1 | g.7984989G>C | CA338167190 | PARK7 | c.505G>C (p.Val169Leu) c.445G>C (p.Val149Leu) c.418G>C (p.Val140Leu) | |
1 | g.7984989G>T | CA338167189 | PARK7 | c.505G>T (p.Val169Phe) c.445G>T (p.Val149Phe) c.418G>T (p.Val140Phe) | ClinVar dbSNP |
1 | g.7984990T>A | CA338167192 | PARK7 | c.506T>A (p.Val169Asp) c.446T>A (p.Val149Asp) c.419T>A (p.Val140Asp) | |
1 | g.7984990T>C | CA338167193 | PARK7 | c.506T>C (p.Val169Ala) c.446T>C (p.Val149Ala) c.419T>C (p.Val140Ala) | |
1 | g.7984990T>G | CA338167194 | PARK7 | c.506T>G (p.Val169Gly) c.446T>G (p.Val149Gly) c.419T>G (p.Val140Gly) | |
1 | g.7984991T>A | CA415839138 | PARK7 | c.507T>A (p.Val169=) c.447T>A (p.Val149=) c.420T>A (p.Val140=) | |
1 | g.7984991T>C | CA569642 | PARK7 | c.507T>C (p.Val169=) c.447T>C (p.Val149=) c.420T>C (p.Val140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984991T>G | CA569643 | PARK7 | c.507T>G (p.Val169=) c.447T>G (p.Val149=) c.420T>G (p.Val140=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984991T= | CA1143621698 | PARK7 | c.507T= (p.Val169=) c.447T= (p.Val149=) c.420T= (p.Val140=) | |
1 | g.7984992G>A | CA338167195 | PARK7 | c.508G>A (p.Glu170Lys) c.448G>A (p.Glu150Lys) c.421G>A (p.Glu141Lys) | |
1 | g.7984992G>C | CA338167196 | PARK7 | c.508G>C (p.Glu170Gln) c.448G>C (p.Glu150Gln) c.421G>C (p.Glu141Gln) | |
1 | g.7984992G>T | CA338167197 | PARK7 | c.508G>T (p.Glu170Ter) c.448G>T (p.Glu150Ter) c.421G>T (p.Glu141Ter) | |
1 | g.7984993A>C | CA338167198 | PARK7 | c.509A>C (p.Glu170Ala) c.449A>C (p.Glu150Ala) c.422A>C (p.Glu141Ala) | |
1 | g.7984993A>G | CA338167199 | PARK7 | c.509A>G (p.Glu170Gly) c.449A>G (p.Glu150Gly) c.422A>G (p.Glu141Gly) | |
1 | g.7984993A>T | CA338167200 | PARK7 | c.509A>T (p.Glu170Val) c.449A>T (p.Glu150Val) c.422A>T (p.Glu141Val) | |
1 | g.7984994A>C | CA338167201 | PARK7 | c.510A>C (p.Glu170Asp) c.450A>C (p.Glu150Asp) c.423A>C (p.Glu141Asp) | |
1 | g.7984994A>G | CA415839144 | PARK7 | c.510A>G (p.Glu170=) c.450A>G (p.Glu150=) c.423A>G (p.Glu141=) | |
1 | g.7984994A>T | CA338167202 | PARK7 | c.510A>T (p.Glu170Asp) c.450A>T (p.Glu150Asp) c.423A>T (p.Glu141Asp) | |
1 | g.7984995G>A | CA338167204 | PARK7 | c.511G>A (p.Ala171Thr) c.451G>A (p.Ala151Thr) c.424G>A (p.Ala142Thr) | |
1 | g.7984995G>C | CA338167203 | PARK7 | c.511G>C (p.Ala171Pro) c.451G>C (p.Ala151Pro) c.424G>C (p.Ala142Pro) | |
1 | g.7984995G= | CA1152147596 | PARK7 | c.511G= (p.Ala171=) c.451G= (p.Ala151=) c.424G= (p.Ala142=) | |
1 | g.7984995G>T | CA569644 | PARK7 | c.511G>T (p.Ala171Ser) c.451G>T (p.Ala151Ser) c.424G>T (p.Ala142Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984995_7984996insACCGACATCT | CA2742365515 | PARK7 | c.511_512insACCGACATCT (p.Ala171AspfsTer21) c.451_452insACCGACATCT (p.Ala151AspfsTer21) c.424_425insACCGACATCT (p.Ala142AspfsTer21) | |
1 | g.7984996C>A | CA338167205 | PARK7 | c.512C>A (p.Ala171Asp) c.452C>A (p.Ala151Asp) c.425C>A (p.Ala142Asp) | |
1 | g.7984996C>G | CA338167206 | PARK7 | c.512C>G (p.Ala171Gly) c.452C>G (p.Ala151Gly) c.425C>G (p.Ala142Gly) | |
1 | g.7984996C>T | CA338167207 | PARK7 | c.512C>T (p.Ala171Val) c.452C>T (p.Ala151Val) c.425C>T (p.Ala142Val) | COSMIC |
1 | g.7984997C>A | CA415839147 | PARK7 | c.513C>A (p.Ala171=) c.453C>A (p.Ala151=) c.426C>A (p.Ala142=) | gnomAD v4 |
1 | g.7984997C>G | CA415839149 | PARK7 | c.513C>G (p.Ala171=) c.453C>G (p.Ala151=) c.426C>G (p.Ala142=) | |
1 | g.7984997C>T | CA415839148 | PARK7 | c.513C>T (p.Ala171=) c.453C>T (p.Ala151=) c.426C>T (p.Ala142=) | |
1 | g.7984998C>A | CA338167208 | PARK7 | c.514C>A (p.Leu172Met) c.454C>A (p.Leu152Met) c.427C>A (p.Leu143Met) | |
1 | g.7984998C>G | CA338167209 | PARK7 | c.514C>G (p.Leu172Val) c.454C>G (p.Leu152Val) c.427C>G (p.Leu143Val) | |
1 | g.7984998C>T | CA415839150 | PARK7 | c.514C>T (p.Leu172=) c.454C>T (p.Leu152=) c.427C>T (p.Leu143=) | gnomAD v4 |
1 | g.7984998_7984999insCCAACACTTAAAGTCTTAGCAGCTGCATT | CA2742365516 | PARK7 | c.514_515insCCAACACTTAAAGTCTTAGCAGCTGCATT (p.Leu172ProfsTer4) c.454_455insCCAACACTTAAAGTCTTAGCAGCTGCATT (p.Leu152ProfsTer4) c.427_428insCCAACACTTAAAGTCTTAGCAGCTGCATT (p.Leu143ProfsTer4) | |
1 | g.7984999del | CA2643056874 | PARK7 | c.515del (p.Leu172ArgfsTer10) c.455del (p.Leu152ArgfsTer10) c.428del (p.Leu143ArgfsTer10) | gnomAD v4 |
1 | g.7984999T>A | CA338167210 | PARK7 | c.515T>A (p.Leu172Gln) c.455T>A (p.Leu152Gln) c.428T>A (p.Leu143Gln) | ClinVar dbSNP |
1 | g.7984999T>C | CA338167211 | PARK7 | c.515T>C (p.Leu172Pro) c.455T>C (p.Leu152Pro) c.428T>C (p.Leu143Pro) | gnomAD v4 |
1 | g.7984999T>G | CA338167212 | PARK7 | c.515T>G (p.Leu172Arg) c.455T>G (p.Leu152Arg) c.428T>G (p.Leu143Arg) | |
1 | g.7984999T= | CA1152147599 | PARK7 | c.515T= (p.Leu172=) c.455T= (p.Leu152=) c.428T= (p.Leu143=) | |
1 | g.7985000G>A | CA415839152 | PARK7 | c.516G>A (p.Leu172=) c.456G>A (p.Leu152=) c.429G>A (p.Leu143=) | |
1 | g.7985000G>C | CA415839153 | PARK7 | c.516G>C (p.Leu172=) c.456G>C (p.Leu152=) c.429G>C (p.Leu143=) | |
1 | g.7985000G>T | CA415839154 | PARK7 | c.516G>T (p.Leu172=) c.456G>T (p.Leu152=) c.429G>T (p.Leu143=) | |
1 | g.7985001A>C | CA338167213 | PARK7 | c.517A>C (p.Asn173His) c.457A>C (p.Asn153His) c.430A>C (p.Asn144His) | |
1 | g.7985001A>G | CA338167214 | PARK7 | c.517A>G (p.Asn173Asp) c.457A>G (p.Asn153Asp) c.430A>G (p.Asn144Asp) | |
1 | g.7985001A>T | CA338167215 | PARK7 | c.517A>T (p.Asn173Tyr) c.457A>T (p.Asn153Tyr) c.430A>T (p.Asn144Tyr) | |
1 | g.7985002A>C | CA338167218 | PARK7 | c.518A>C (p.Asn173Thr) c.458A>C (p.Asn153Thr) c.431A>C (p.Asn144Thr) | |
1 | g.7985002A>G | CA338167217 | PARK7 | c.518A>G (p.Asn173Ser) c.458A>G (p.Asn153Ser) c.431A>G (p.Asn144Ser) | |
1 | g.7985002A>T | CA338167216 | PARK7 | c.518A>T (p.Asn173Ile) c.458A>T (p.Asn153Ile) c.431A>T (p.Asn144Ile) | |
1 | g.7985003T>A | CA338167219 | PARK7 | c.519T>A (p.Asn173Lys) c.459T>A (p.Asn153Lys) c.432T>A (p.Asn144Lys) | |
1 | g.7985003T>C | CA415839155 | PARK7 | c.519T>C (p.Asn173=) c.459T>C (p.Asn153=) c.432T>C (p.Asn144=) | |
1 | g.7985003T>G | CA338167220 | PARK7 | c.519T>G (p.Asn173Lys) c.459T>G (p.Asn153Lys) c.432T>G (p.Asn144Lys) | |
1 | g.7985004G>A | CA338167221 | PARK7 | c.520G>A (p.Gly174Ser) c.460G>A (p.Gly154Ser) c.433G>A (p.Gly145Ser) | gnomAD v4 |
1 | g.7985004G>C | CA338167222 | PARK7 | c.520G>C (p.Gly174Arg) c.460G>C (p.Gly154Arg) c.433G>C (p.Gly145Arg) | |
1 | g.7985004G>T | CA338167223 | PARK7 | c.520G>T (p.Gly174Cys) c.460G>T (p.Gly154Cys) c.433G>T (p.Gly145Cys) | |
1 | g.7985005G>A | CA338167224 | PARK7 | c.521G>A (p.Gly174Asp) c.461G>A (p.Gly154Asp) c.434G>A (p.Gly145Asp) | |
1 | g.7985005G>C | CA338167225 | PARK7 | c.521G>C (p.Gly174Ala) c.461G>C (p.Gly154Ala) c.434G>C (p.Gly145Ala) | |
1 | g.7985005G>T | CA338167226 | PARK7 | c.521G>T (p.Gly174Val) c.461G>T (p.Gly154Val) c.434G>T (p.Gly145Val) | |
1 | g.7985006C>A | CA415839156 | PARK7 | c.522C>A (p.Gly174=) c.462C>A (p.Gly154=) c.435C>A (p.Gly145=) | |
1 | g.7985006C>G | CA415839158 | PARK7 | c.522C>G (p.Gly174=) c.462C>G (p.Gly154=) c.435C>G (p.Gly145=) | |
1 | g.7985006C>T | CA415839160 | PARK7 | c.522C>T (p.Gly174=) c.462C>T (p.Gly154=) c.435C>T (p.Gly145=) | |
1 | g.7985007A= | CA1152147609 | PARK7 | c.523A= (p.Lys175=) c.463A= (p.Lys155=) c.436A= (p.Lys146=) | |
1 | g.7985007A>C | CA338167227 | PARK7 | c.523A>C (p.Lys175Gln) c.463A>C (p.Lys155Gln) c.436A>C (p.Lys146Gln) | |
1 | g.7985007A>G | CA338167228 | PARK7 | c.523A>G (p.Lys175Glu) c.463A>G (p.Lys155Glu) c.436A>G (p.Lys146Glu) | dbSNP |
1 | g.7985007A>T | CA338167229 | PARK7 | c.523A>T (p.Lys175Ter) c.463A>T (p.Lys155Ter) c.436A>T (p.Lys146Ter) | gnomAD v4 |
1 | g.7985008A>C | CA338167230 | PARK7 | c.524A>C (p.Lys175Thr) c.464A>C (p.Lys155Thr) c.437A>C (p.Lys146Thr) | |
1 | g.7985008A>G | CA338167231 | PARK7 | c.524A>G (p.Lys175Arg) c.464A>G (p.Lys155Arg) c.437A>G (p.Lys146Arg) | |
1 | g.7985008A>T | CA338167232 | PARK7 | c.524A>T (p.Lys175Met) c.464A>T (p.Lys155Met) c.437A>T (p.Lys146Met) | |
1 | g.7985011_7985013del | CA415839161 | PARK7 | c.527_529del (p.Glu176del) c.467_469del (p.Glu156del) c.440_442del (p.Glu147del) | |
1 | g.7985009G>A | CA415839162 | PARK7 | c.525G>A (p.Lys175=) c.465G>A (p.Lys155=) c.438G>A (p.Lys146=) | gnomAD v4 |
1 | g.7985009G>C | CA338167233 | PARK7 | c.525G>C (p.Lys175Asn) c.465G>C (p.Lys155Asn) c.438G>C (p.Lys146Asn) | |
1 | g.7985009G>T | CA338167234 | PARK7 | c.525G>T (p.Lys175Asn) c.465G>T (p.Lys155Asn) c.438G>T (p.Lys146Asn) | |
1 | g.7985010G>A | CA338167235 | PARK7 | c.526G>A (p.Glu176Lys) c.466G>A (p.Glu156Lys) c.439G>A (p.Glu147Lys) | |
1 | g.7985010G>C | CA338167236 | PARK7 | c.526G>C (p.Glu176Gln) c.466G>C (p.Glu156Gln) c.439G>C (p.Glu147Gln) | |
1 | g.7985010G>T | CA338167237 | PARK7 | c.526G>T (p.Glu176Ter) c.466G>T (p.Glu156Ter) c.439G>T (p.Glu147Ter) | |
1 | g.7985011A= | CA1152147611 | PARK7 | c.527A= (p.Glu176=) c.467A= (p.Glu156=) c.440A= (p.Glu147=) | |
1 | g.7985011A>C | CA338167238 | PARK7 | c.527A>C (p.Glu176Ala) c.467A>C (p.Glu156Ala) c.440A>C (p.Glu147Ala) | dbSNP gnomAD v4 |
1 | g.7985011A>G | CA338167239 | PARK7 | c.527A>G (p.Glu176Gly) c.467A>G (p.Glu156Gly) c.440A>G (p.Glu147Gly) | |
1 | g.7985011A>T | CA338167240 | PARK7 | c.527A>T (p.Glu176Val) c.467A>T (p.Glu156Val) c.440A>T (p.Glu147Val) | |
1 | g.7985012G>A | CA415839163 | PARK7 | c.528G>A (p.Glu176=) c.468G>A (p.Glu156=) c.441G>A (p.Glu147=) | |
1 | g.7985012G>C | CA338167241 | PARK7 | c.528G>C (p.Glu176Asp) c.468G>C (p.Glu156Asp) c.441G>C (p.Glu147Asp) | |
1 | g.7985012G>T | CA338167242 | PARK7 | c.528G>T (p.Glu176Asp) c.468G>T (p.Glu156Asp) c.441G>T (p.Glu147Asp) | |
1 | g.7985013G>A | CA338167243 | PARK7 | c.529G>A (p.Val177Met) c.469G>A (p.Val157Met) c.442G>A (p.Val148Met) | dbSNP |
1 | g.7985013G>C | CA338167244 | PARK7 | c.529G>C (p.Val177Leu) c.469G>C (p.Val157Leu) c.442G>C (p.Val148Leu) | |
1 | g.7985013G= | CA1152147613 | PARK7 | c.529G= (p.Val177=) c.469G= (p.Val157=) c.442G= (p.Val148=) | |
1 | g.7985013G>T | CA338167245 | PARK7 | c.529G>T (p.Val177Leu) c.469G>T (p.Val157Leu) c.442G>T (p.Val148Leu) | |
1 | g.7985014T>A | CA338167247 | PARK7 | c.530T>A (p.Val177Glu) c.470T>A (p.Val157Glu) c.443T>A (p.Val148Glu) | |
1 | g.7985014T>C | CA338167248 | PARK7 | c.530T>C (p.Val177Ala) c.470T>C (p.Val157Ala) c.443T>C (p.Val148Ala) | |
1 | g.7985014T>G | CA338167246 | PARK7 | c.530T>G (p.Val177Gly) c.470T>G (p.Val157Gly) c.443T>G (p.Val148Gly) | |
1 | g.7985015G>A | CA415839166 | PARK7 | c.531G>A (p.Val177=) c.471G>A (p.Val157=) c.444G>A (p.Val148=) | |
1 | g.7985015G>C | CA415839167 | PARK7 | c.531G>C (p.Val177=) c.471G>C (p.Val157=) c.444G>C (p.Val148=) | |
1 | g.7985015G>T | CA415839168 | PARK7 | c.531G>T (p.Val177=) c.471G>T (p.Val157=) c.444G>T (p.Val148=) | |
1 | g.7985015_7985016insTAATGACCT | CA2505640074 | PARK7 | c.531_532insTAATGACCT c.471_472insTAATGACCT c.444_445insTAATGACCT | |
1 | g.7985016G>A | CA338167249 | PARK7 | c.532G>A (p.Ala178Thr) c.472G>A (p.Ala158Thr) c.445G>A (p.Ala149Thr) | |
1 | g.7985016G>C | CA338167250 | PARK7 | c.532G>C (p.Ala178Pro) c.472G>C (p.Ala158Pro) c.445G>C (p.Ala149Pro) | |
1 | g.7985016G>T | CA338167251 | PARK7 | c.532G>T (p.Ala178Ser) c.472G>T (p.Ala158Ser) c.445G>T (p.Ala149Ser) | |
1 | g.7985017C>A | CA338167252 | PARK7 | c.533C>A (p.Ala178Glu) c.473C>A (p.Ala158Glu) c.446C>A (p.Ala149Glu) | |
1 | g.7985017C= | CA1152147615 | PARK7 | c.533C= (p.Ala178=) c.473C= (p.Ala158=) c.446C= (p.Ala149=) | |
1 | g.7985017C>G | CA338167253 | PARK7 | c.533C>G (p.Ala178Gly) c.473C>G (p.Ala158Gly) c.446C>G (p.Ala149Gly) | |
1 | g.7985017C>T | CA569645 | PARK7 | c.533C>T (p.Ala178Val) c.473C>T (p.Ala158Val) c.446C>T (p.Ala149Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.7985018G>A | CA569646 | PARK7 | c.534G>A (p.Ala178=) c.474G>A (p.Ala158=) c.447G>A (p.Ala149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7985018G>C | CA415839172 | PARK7 | c.534G>C (p.Ala178=) c.474G>C (p.Ala158=) c.447G>C (p.Ala149=) | dbSNP |
1 | g.7985018G= | CA1142335078 | PARK7 | c.534G= (p.Ala178=) c.474G= (p.Ala158=) c.447G= (p.Ala149=) | |
1 | g.7985018G>T | CA415839173 | PARK7 | c.534G>T (p.Ala178=) c.474G>T (p.Ala158=) c.447G>T (p.Ala149=) | |
1 | g.7985019G>A | CA569647 | PARK7 | c.535G>A (p.Ala179Thr) c.475G>A (p.Ala159Thr) c.448G>A (p.Ala150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7985019G>C | CA338167254 | PARK7 | c.535G>C (p.Ala179Pro) c.475G>C (p.Ala159Pro) c.448G>C (p.Ala150Pro) | |
1 | g.7985019G= | CA1140795499 | PARK7 | c.535G= (p.Ala179=) c.475G= (p.Ala159=) c.448G= (p.Ala150=) | |
1 | g.7985019G>T | CA338167255 | PARK7 | c.535G>T (p.Ala179Ser) c.475G>T (p.Ala159Ser) c.448G>T (p.Ala150Ser) | |
1 | g.7985020C>A | CA338167256 | PARK7 | c.536C>A (p.Ala179Asp) c.476C>A (p.Ala159Asp) c.449C>A (p.Ala150Asp) | |
1 | g.7985020C>G | CA338167257 | PARK7 | c.536C>G (p.Ala179Gly) c.476C>G (p.Ala159Gly) c.449C>G (p.Ala150Gly) | |
1 | g.7985020C>T | CA338167258 | PARK7 | c.536C>T (p.Ala179Val) c.476C>T (p.Ala159Val) c.449C>T (p.Ala150Val) | |
1 | g.7985021T>A | CA415839175 | PARK7 | c.537T>A (p.Ala179=) c.477T>A (p.Ala159=) c.450T>A (p.Ala150=) | |
1 | g.7985021T>C | CA415839176 | PARK7 | c.537T>C (p.Ala179=) c.477T>C (p.Ala159=) c.450T>C (p.Ala150=) | dbSNP |
1 | g.7985021T>G | CA415839177 | PARK7 | c.537T>G (p.Ala179=) c.477T>G (p.Ala159=) c.450T>G (p.Ala150=) | |
1 | g.7985021T= | CA1152147619 | PARK7 | c.537T= (p.Ala179=) c.477T= (p.Ala159=) c.450T= (p.Ala150=) | |
1 | g.7985022C>A | CA338167260 | PARK7 | c.538C>A (p.Gln180Lys) c.478C>A (p.Gln160Lys) c.451C>A (p.Gln151Lys) | gnomAD v4 |
1 | g.7985022C= | CA1152147621 | PARK7 | c.538C= (p.Gln180=) c.478C= (p.Gln160=) c.451C= (p.Gln151=) | |
1 | g.7985022C>G | CA569648 | PARK7 | c.538C>G (p.Gln180Glu) c.478C>G (p.Gln160Glu) c.451C>G (p.Gln151Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7985022C>T | CA338167259 | PARK7 | c.538C>T (p.Gln180Ter) c.478C>T (p.Gln160Ter) c.451C>T (p.Gln151Ter) | |
1 | g.7985022_7985027delinsCAAGTG | CA1152147623 | PARK7 | c.538_543delinsCAAGTG (p.Gln180=) c.478_483delinsCAAGTG (p.Gln160=) c.451_456delinsCAAGTG (p.Gln151=) | |
1 | g.7985023A>C | CA338167261 | PARK7 | c.539A>C (p.Gln180Pro) c.479A>C (p.Gln160Pro) c.452A>C (p.Gln151Pro) | |
1 | g.7985023A>G | CA338167262 | PARK7 | c.539A>G (p.Gln180Arg) c.479A>G (p.Gln160Arg) c.452A>G (p.Gln151Arg) | |
1 | g.7985023A>T | CA338167263 | PARK7 | c.539A>T (p.Gln180Leu) c.479A>T (p.Gln160Leu) c.452A>T (p.Gln151Leu) | |
1 | g.7985026_7985030del | CA1152147626 | PARK7 | c.542_546del (p.Val181GlyfsTer6) c.482_486del (p.Val161GlyfsTer6) c.455_459del (p.Val152GlyfsTer6) | dbSNP |
1 | g.7985024A= | CA1152147628 | PARK7 | c.540A= (p.Gln180=) c.480A= (p.Gln160=) c.453A= (p.Gln151=) | |
1 | g.7985024A>C | CA338167264 | PARK7 | c.540A>C (p.Gln180His) c.480A>C (p.Gln160His) c.453A>C (p.Gln151His) | |
1 | g.7985024A>G | CA569649 | PARK7 | c.540A>G (p.Gln180=) c.480A>G (p.Gln160=) c.453A>G (p.Gln151=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7985024A>T | CA338167265 | PARK7 | c.540A>T (p.Gln180His) c.480A>T (p.Gln160His) c.453A>T (p.Gln151His) | |
1 | g.7985025G>A | CA569651 | PARK7 | c.541G>A (p.Val181Met) c.481G>A (p.Val161Met) c.454G>A (p.Val152Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7985025G>C | CA569650 | PARK7 | c.541G>C (p.Val181Leu) c.481G>C (p.Val161Leu) c.454G>C (p.Val152Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7985025G= | CA1152147634 | PARK7 | c.541G= (p.Val181=) c.481G= (p.Val161=) c.454G= (p.Val152=) | |
1 | g.7985025G>T | CA338167266 | PARK7 | c.541G>T (p.Val181Leu) c.481G>T (p.Val161Leu) c.454G>T (p.Val152Leu) | |
1 | g.7985026T>A | CA338167267 | PARK7 | c.542T>A (p.Val181Glu) c.482T>A (p.Val161Glu) c.455T>A (p.Val152Glu) | |
1 | g.7985026T>C | CA338167268 | PARK7 | c.542T>C (p.Val181Ala) c.482T>C (p.Val161Ala) c.455T>C (p.Val152Ala) | |
1 | g.7985026T>G | CA338167269 | PARK7 | c.542T>G (p.Val181Gly) c.482T>G (p.Val161Gly) c.455T>G (p.Val152Gly) | |
1 | g.7985027G>A | CA415839180 | PARK7 | c.543G>A (p.Val181=) c.483G>A (p.Val161=) c.456G>A (p.Val152=) | |
1 | g.7985027G>C | CA415839181 | PARK7 | c.543G>C (p.Val181=) c.483G>C (p.Val161=) c.456G>C (p.Val152=) | |
1 | g.7985027G>T | CA415839183 | PARK7 | c.543G>T (p.Val181=) c.483G>T (p.Val161=) c.456G>T (p.Val152=) | |
1 | g.7985028A>C | CA338167272 | PARK7 | c.544A>C (p.Lys182Gln) c.484A>C (p.Lys162Gln) c.457A>C (p.Lys153Gln) | |
1 | g.7985028A>G | CA338167271 | PARK7 | c.544A>G (p.Lys182Glu) c.484A>G (p.Lys162Glu) c.457A>G (p.Lys153Glu) | gnomAD v4 |
1 | g.7985028A>T | CA338167270 | PARK7 | c.544A>T (p.Lys182Ter) c.484A>T (p.Lys162Ter) c.457A>T (p.Lys153Ter) | |
1 | g.7985029A>C | CA338167273 | PARK7 | c.545A>C (p.Lys182Thr) c.485A>C (p.Lys162Thr) c.458A>C (p.Lys153Thr) | |
1 | g.7985029A>G | CA338167275 | PARK7 | c.545A>G (p.Lys182Arg) c.485A>G (p.Lys162Arg) c.458A>G (p.Lys153Arg) | gnomAD v4 |
1 | g.7985029A>T | CA338167274 | PARK7 | c.545A>T (p.Lys182Met) c.485A>T (p.Lys162Met) c.458A>T (p.Lys153Met) | |
1 | g.7985030G>A | CA415839184 | PARK7 | c.546G>A (p.Lys182=) c.486G>A (p.Lys162=) c.459G>A (p.Lys153=) | |
1 | g.7985030G>C | CA338167276 | PARK7 | c.546G>C (p.Lys182Asn) c.486G>C (p.Lys162Asn) c.459G>C (p.Lys153Asn) | |
1 | g.7985030G>T | CA338167277 | PARK7 | c.546G>T (p.Lys182Asn) c.486G>T (p.Lys162Asn) c.459G>T (p.Lys153Asn) | gnomAD v4 |
1 | g.7985031G>A | CA338167278 | PARK7 | c.547G>A (p.Ala183Thr) c.487G>A (p.Ala163Thr) c.460G>A (p.Ala154Thr) | dbSNP |
1 | g.7985031G>C | CA338167279 | PARK7 | c.547G>C (p.Ala183Pro) c.487G>C (p.Ala163Pro) c.460G>C (p.Ala154Pro) | dbSNP |
1 | g.7985031G= | CA1152147637 | PARK7 | c.547G= (p.Ala183=) c.487G= (p.Ala163=) c.460G= (p.Ala154=) | |
1 | g.7985031G>T | CA338167280 | PARK7 | c.547G>T (p.Ala183Ser) c.487G>T (p.Ala163Ser) c.460G>T (p.Ala154Ser) | |
1 | g.7985032C>A | CA338167281 | PARK7 | c.548C>A (p.Ala183Asp) c.488C>A (p.Ala163Asp) c.461C>A (p.Ala154Asp) | |
1 | g.7985032C>G | CA338167282 | PARK7 | c.548C>G (p.Ala183Gly) c.488C>G (p.Ala163Gly) c.461C>G (p.Ala154Gly) | |
1 | g.7985032C>T | CA338167283 | PARK7 | c.548C>T (p.Ala183Val) c.488C>T (p.Ala163Val) c.461C>T (p.Ala154Val) | |
1 | g.7985033T>A | CA415839185 | PARK7 | c.549T>A (p.Ala183=) c.489T>A (p.Ala163=) c.462T>A (p.Ala154=) | |
1 | g.7985033T>C | CA569652 | PARK7 | c.549T>C (p.Ala183=) c.489T>C (p.Ala163=) c.462T>C (p.Ala154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7985033T>G | CA415839186 | PARK7 | c.549T>G (p.Ala183=) c.489T>G (p.Ala163=) c.462T>G (p.Ala154=) | |
1 | g.7985033T= | CA1152147640 | PARK7 | c.549T= (p.Ala183=) c.489T= (p.Ala163=) c.462T= (p.Ala154=) | |
1 | g.7985034C>A | CA338167284 | PARK7 | c.550C>A (p.Pro184Thr) c.490C>A (p.Pro164Thr) c.463C>A (p.Pro155Thr) | |
1 | g.7985034C>G | CA338167285 | PARK7 | c.550C>G (p.Pro184Ala) c.490C>G (p.Pro164Ala) c.463C>G (p.Pro155Ala) | |
1 | g.7985034C>T | CA338167286 | PARK7 | c.550C>T (p.Pro184Ser) c.490C>T (p.Pro164Ser) c.463C>T (p.Pro155Ser) | COSMIC |
1 | g.7985035C>A | CA338167287 | PARK7 | c.551C>A (p.Pro184Gln) c.491C>A (p.Pro164Gln) c.464C>A (p.Pro155Gln) | |
1 | g.7985035C>G | CA338167288 | PARK7 | c.551C>G (p.Pro184Arg) c.491C>G (p.Pro164Arg) c.464C>G (p.Pro155Arg) | |
1 | g.7985035C>T | CA338167289 | PARK7 | c.551C>T (p.Pro184Leu) c.491C>T (p.Pro164Leu) c.464C>T (p.Pro155Leu) | |
1 | g.7985036A= | CA1139989298 | PARK7 | c.552A= (p.Pro184=) c.492A= (p.Pro164=) c.465A= (p.Pro155=) | |
1 | g.7985036A>C | CA17286816 | PARK7 | c.552A>C (p.Pro184=) c.492A>C (p.Pro164=) c.465A>C (p.Pro155=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7985036A>G | CA415839190 | PARK7 | c.552A>G (p.Pro184=) c.492A>G (p.Pro164=) c.465A>G (p.Pro155=) | dbSNP gnomAD v4 |
1 | g.7985036A>T | CA415839191 | PARK7 | c.552A>T (p.Pro184=) c.492A>T (p.Pro164=) c.465A>T (p.Pro155=) | |
1 | g.7985037C>A | CA338167290 | PARK7 | c.553C>A (p.Leu185Ile) c.493C>A (p.Leu165Ile) c.466C>A (p.Leu156Ile) | |
1 | g.7985037C= | CA1152147644 | PARK7 | c.553C= (p.Leu185=) c.493C= (p.Leu165=) c.466C= (p.Leu156=) | |
1 | g.7985037C>G | CA338167291 | PARK7 | c.553C>G (p.Leu185Val) c.493C>G (p.Leu165Val) c.466C>G (p.Leu156Val) | |
1 | g.7985037C>T | CA338167292 | PARK7 | c.553C>T (p.Leu185Phe) c.493C>T (p.Leu165Phe) c.466C>T (p.Leu156Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7985038T>A | CA338167293 | PARK7 | c.554T>A (p.Leu185His) c.494T>A (p.Leu165His) c.467T>A (p.Leu156His) | |
1 | g.7985038T>C | CA338167294 | PARK7 | c.554T>C (p.Leu185Pro) c.494T>C (p.Leu165Pro) c.467T>C (p.Leu156Pro) | |
1 | g.7985038T>G | CA338167295 | PARK7 | c.554T>G (p.Leu185Arg) c.494T>G (p.Leu165Arg) c.467T>G (p.Leu156Arg) | |
1 | g.7985039T>A | CA415839192 | PARK7 | c.555T>A (p.Leu185=) c.495T>A (p.Leu165=) c.468T>A (p.Leu156=) | gnomAD v4 |
1 | g.7985039T>C | CA415839193 | PARK7 | c.555T>C (p.Leu185=) c.495T>C (p.Leu165=) c.468T>C (p.Leu156=) | |
1 | g.7985039T>G | CA415839194 | PARK7 | c.555T>G (p.Leu185=) c.495T>G (p.Leu165=) c.468T>G (p.Leu156=) | |
1 | g.7985040G>A | CA338167296 | PARK7 | c.556G>A (p.Val186Ile) c.496G>A (p.Val166Ile) c.469G>A (p.Val157Ile) | dbSNP gnomAD v4 |
1 | g.7985040G>C | CA338167297 | PARK7 | c.556G>C (p.Val186Leu) c.496G>C (p.Val166Leu) c.469G>C (p.Val157Leu) | |
1 | g.7985040G= | CA1152147645 | PARK7 | c.556G= (p.Val186=) c.496G= (p.Val166=) c.469G= (p.Val157=) | |
1 | g.7985040G>T | CA338167298 | PARK7 | c.556G>T (p.Val186Phe) c.496G>T (p.Val166Phe) c.469G>T (p.Val157Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7985041T>A | CA338167299 | PARK7 | c.557T>A (p.Val186Asp) c.497T>A (p.Val166Asp) c.470T>A (p.Val157Asp) | |
1 | g.7985041T>C | CA338167300 | PARK7 | c.557T>C (p.Val186Ala) c.497T>C (p.Val166Ala) c.470T>C (p.Val157Ala) | |
1 | g.7985041T>G | CA338167301 | PARK7 | c.557T>G (p.Val186Gly) c.497T>G (p.Val166Gly) c.470T>G (p.Val157Gly) | |
1 | g.7985042T>A | CA415839198 | PARK7 | c.558T>A (p.Val186=) c.498T>A (p.Val166=) c.471T>A (p.Val157=) | |
1 | g.7985042T>C | CA17286817 | PARK7 | c.558T>C (p.Val186=) c.498T>C (p.Val166=) c.471T>C (p.Val157=) | dbSNP |
1 | g.7985042T>G | CA415839199 | PARK7 | c.558T>G (p.Val186=) c.498T>G (p.Val166=) c.471T>G (p.Val157=) | |
1 | g.7985042T= | CA1152147648 | PARK7 | c.558T= (p.Val186=) c.498T= (p.Val166=) c.471T= (p.Val157=) | |
1 | g.7985043C>A | CA338167302 | PARK7 | c.559C>A (p.Leu187Ile) c.499C>A (p.Leu167Ile) c.472C>A (p.Leu158Ile) | |
1 | g.7985043C>G | CA338167304 | PARK7 | c.559C>G (p.Leu187Val) c.499C>G (p.Leu167Val) c.472C>G (p.Leu158Val) | COSMIC |
1 | g.7985043C>T | CA338167303 | PARK7 | c.559C>T (p.Leu187Phe) c.499C>T (p.Leu167Phe) c.472C>T (p.Leu158Phe) | gnomAD v4 |
1 | g.7985044T>A | CA338167305 | PARK7 | c.560T>A (p.Leu187His) c.500T>A (p.Leu167His) c.473T>A (p.Leu158His) | |
1 | g.7985044T>C | CA338167306 | PARK7 | c.560T>C (p.Leu187Pro) c.500T>C (p.Leu167Pro) c.473T>C (p.Leu158Pro) | |
1 | g.7985044T>G | CA338167307 | PARK7 | c.560T>G (p.Leu187Arg) c.500T>G (p.Leu167Arg) c.473T>G (p.Leu158Arg) | |
1 | g.7985045T>A | CA415839202 | PARK7 | c.561T>A (p.Leu187=) c.501T>A (p.Leu167=) c.474T>A (p.Leu158=) | |
1 | g.7985045T>C | CA415839203 | PARK7 | c.561T>C (p.Leu187=) c.501T>C (p.Leu167=) c.474T>C (p.Leu158=) | |
1 | g.7985045T>G | CA415839204 | PARK7 | c.561T>G (p.Leu187=) c.501T>G (p.Leu167=) c.474T>G (p.Leu158=) | |
1 | g.7985046A= | CA1152147649 | PARK7 | c.562A= (p.Lys188=) c.502A= (p.Lys168=) c.475A= (p.Lys159=) | |
1 | g.7985046A>C | CA338167308 | PARK7 | c.562A>C (p.Lys188Gln) c.502A>C (p.Lys168Gln) c.475A>C (p.Lys159Gln) | |
1 | g.7985046A>G | CA338167309 | PARK7 | c.562A>G (p.Lys188Glu) c.502A>G (p.Lys168Glu) c.475A>G (p.Lys159Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7985046A>T | CA338167310 | PARK7 | c.562A>T (p.Lys188Ter) c.502A>T (p.Lys168Ter) c.475A>T (p.Lys159Ter) | |
1 | g.7985047A>C | CA338167311 | PARK7 | c.563A>C (p.Lys188Thr) c.503A>C (p.Lys168Thr) c.476A>C (p.Lys159Thr) | |
1 | g.7985047A>G | CA338167312 | PARK7 | c.563A>G (p.Lys188Arg) c.503A>G (p.Lys168Arg) c.476A>G (p.Lys159Arg) | |
1 | g.7985047A>T | CA338167313 | PARK7 | c.563A>T (p.Lys188Ile) c.503A>T (p.Lys168Ile) c.476A>T (p.Lys159Ile) | |
1 | g.7985048A>C | CA338167314 | PARK7 | c.564A>C (p.Lys188Asn) c.504A>C (p.Lys168Asn) c.477A>C (p.Lys159Asn) | |
1 | g.7985048A>G | CA415839205 | PARK7 | c.564A>G (p.Lys188=) c.504A>G (p.Lys168=) c.477A>G (p.Lys159=) | |
1 | g.7985048A>T | CA338167315 | PARK7 | c.564A>T (p.Lys188Asn) c.504A>T (p.Lys168Asn) c.477A>T (p.Lys159Asn) | |
1 | g.7985049G>A | CA338167318 | PARK7 | c.565G>A (p.Asp189Asn) c.505G>A (p.Asp169Asn) c.478G>A (p.Asp160Asn) | |
1 | g.7985049G>C | CA338167317 | PARK7 | c.565G>C (p.Asp189His) c.505G>C (p.Asp169His) c.478G>C (p.Asp160His) | |
1 | g.7985049G>T | CA338167316 | PARK7 | c.565G>T (p.Asp189Tyr) c.505G>T (p.Asp169Tyr) c.478G>T (p.Asp160Tyr) | |
1 | g.7985050A= | CA1152147652 | PARK7 | c.566A= (p.Asp189=) c.506A= (p.Asp169=) c.479A= (p.Asp160=) | |
1 | g.7985050A>C | CA338167319 | PARK7 | c.566A>C (p.Asp189Ala) c.506A>C (p.Asp169Ala) c.479A>C (p.Asp160Ala) | |
1 | g.7985050A>G | CA338167320 | PARK7 | c.566A>G (p.Asp189Gly) c.506A>G (p.Asp169Gly) c.479A>G (p.Asp160Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7985050A>T | CA338167321 | PARK7 | c.566A>T (p.Asp189Val) c.506A>T (p.Asp169Val) c.479A>T (p.Asp160Val) | |
1 | g.7985050_7985051delinsAC | CA1152147655 | PARK7 | c.566_567delinsAC (p.Asp189=) c.506_507delinsAC (p.Asp169=) c.479_480delinsAC (p.Asp160=) | |
1 | g.7985051del | CA521019990 | PARK7 | c.567del (p.Ter190ArgextTer24) c.567del (p.Ter190ArgextTer?) c.507del (p.Ter170ArgextTer24) c.480del (p.Ter161ArgextTer24) c.567del (p.Asp189=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7985051C>A | CA338167322 | PARK7 | c.567C>A (p.Asp189Glu) c.507C>A (p.Asp169Glu) c.480C>A (p.Asp160Glu) | |
1 | g.7985051C>G | CA338167323 | PARK7 | c.567C>G (p.Asp189Glu) c.507C>G (p.Asp169Glu) c.480C>G (p.Asp160Glu) | |
1 | g.7985051C>T | CA415839208 | PARK7 | c.567C>T (p.Asp189=) c.507C>T (p.Asp169=) c.480C>T (p.Asp160=) | |
1 | g.7985051_7985053delinsCTA | CA1152147663 | PARK7 | c.567_569delinsCTA (p.Asp189=) c.507_509delinsCTA (p.Asp169=) c.480_482delinsCTA (p.Asp160=) | |
1 | g.7985052T>A | CA338167324 | PARK7 | c.568T>A (p.Ter190Lys) c.508T>A (p.Ter170Lys) c.481T>A (p.Ter161Lys) c.568T>A | |
1 | g.7985052T>C | CA338167325 | PARK7 | c.568T>C (p.Ter190Gln) c.508T>C (p.Ter170Gln) c.481T>C (p.Ter161Gln) c.568T>C | |
1 | g.7985052T>G | CA338167326 | PARK7 | c.568T>G (p.Ter190Glu) c.508T>G (p.Ter170Glu) c.481T>G (p.Ter161Glu) c.568T>G | |
1 | g.7985052_7985053del | CA998307712 | PARK7 | c.568_569del (p.Ter190GluextTer9) c.508_509del (p.Ter170GluextTer9) c.481_482del (p.Ter161GluextTer9) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7985053A= | CA1152147669 | PARK7 | c.569A= (p.Ter190=) c.509A= (p.Ter170=) c.482A= (p.Ter161=) | |
1 | g.7985053A>C | CA338167327 | PARK7 | c.569A>C (p.Ter190Ser) c.509A>C (p.Ter170Ser) c.482A>C (p.Ter161Ser) | |
1 | g.7985053A>G | CA338167328 | PARK7 | c.569A>G (p.Ter190Trp) c.509A>G (p.Ter170Trp) c.482A>G (p.Ter161Trp) | |
1 | g.7985053A>T | CA338167329 | PARK7 | c.569A>T (p.Ter190Leu) c.509A>T (p.Ter170Leu) c.482A>T (p.Ter161Leu) |