Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138733055_138733056delinsATCA1746776887ATP6V0A4c.1729_1730delinsAT (p.Ile577=)
c.955_956delinsAT (p.Ile319=)
c.622_623delinsAT (p.Ile208=)
7g.138733056delCA913189644ATP6V0A4c.1729del (p.Ile577SerfsTer4)
c.955del (p.Ile319SerfsTer4)
c.622del (p.Ile208SerfsTer4)
 ClinVar dbSNP
7g.138733056T>ACA369379427ATP6V0A4c.1729A>T (p.Ile577Phe)
c.955A>T (p.Ile319Phe)
c.622A>T (p.Ile208Phe)
7g.138733056T>CCA369379429ATP6V0A4c.1729A>G (p.Ile577Val)
c.955A>G (p.Ile319Val)
c.622A>G (p.Ile208Val)
7g.138733056T>GCA369379428ATP6V0A4c.1729A>C (p.Ile577Leu)
c.955A>C (p.Ile319Leu)
c.622A>C (p.Ile208Leu)
 gnomAD v4
7g.138733057A>CCA369379430ATP6V0A4c.1728T>G (p.Phe576Leu)
c.954T>G (p.Phe318Leu)
c.621T>G (p.Phe207Leu)
7g.138733057A>GCA458150278ATP6V0A4c.1728T>C (p.Phe576=)
c.954T>C (p.Phe318=)
c.621T>C (p.Phe207=)
7g.138733057A>TCA369379431ATP6V0A4c.1728T>A (p.Phe576Leu)
c.954T>A (p.Phe318Leu)
c.621T>A (p.Phe207Leu)
7g.138733058A=CA1746776888ATP6V0A4c.1727T= (p.Phe576=)
c.953T= (p.Phe318=)
c.620T= (p.Phe207=)
7g.138733058A>CCA369379432ATP6V0A4c.1727T>G (p.Phe576Cys)
c.953T>G (p.Phe318Cys)
c.620T>G (p.Phe207Cys)
7g.138733058A>GCA369379433ATP6V0A4c.1727T>C (p.Phe576Ser)
c.953T>C (p.Phe318Ser)
c.620T>C (p.Phe207Ser)
7g.138733058A>TCA369379434ATP6V0A4c.1727T>A (p.Phe576Tyr)
c.953T>A (p.Phe318Tyr)
c.620T>A (p.Phe207Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.138733059A>CCA369379435ATP6V0A4c.1726T>G (p.Phe576Val)
c.952T>G (p.Phe318Val)
c.619T>G (p.Phe207Val)
7g.138733059A>GCA369379436ATP6V0A4c.1726T>C (p.Phe576Leu)
c.952T>C (p.Phe318Leu)
c.619T>C (p.Phe207Leu)
7g.138733059A>TCA369379437ATP6V0A4c.1726T>A (p.Phe576Ile)
c.952T>A (p.Phe318Ile)
c.619T>A (p.Phe207Ile)
7g.138733060T>ACA369379438ATP6V0A4c.1725A>T (p.Gln575His)
c.951A>T (p.Gln317His)
c.618A>T (p.Gln206His)
7g.138733060T>CCA4504662ATP6V0A4c.1725A>G (p.Gln575=)
c.951A>G (p.Gln317=)
c.618A>G (p.Gln206=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733060T>GCA369379439ATP6V0A4c.1725A>C (p.Gln575His)
c.951A>C (p.Gln317His)
c.618A>C (p.Gln206His)
7g.138733060T=CA1746776889ATP6V0A4c.1725A= (p.Gln575=)
c.951A= (p.Gln317=)
c.618A= (p.Gln206=)
7g.138733061T>ACA369379440ATP6V0A4c.1724A>T (p.Gln575Leu)
c.950A>T (p.Gln317Leu)
c.617A>T (p.Gln206Leu)
7g.138733061T>CCA369379441ATP6V0A4c.1724A>G (p.Gln575Arg)
c.950A>G (p.Gln317Arg)
c.617A>G (p.Gln206Arg)
 gnomAD v4
7g.138733061T>GCA369379442ATP6V0A4c.1724A>C (p.Gln575Pro)
c.950A>C (p.Gln317Pro)
c.617A>C (p.Gln206Pro)
7g.138733062G>ACA369379445ATP6V0A4c.1723C>T (p.Gln575Ter)
c.949C>T (p.Gln317Ter)
c.616C>T (p.Gln206Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.138733062G>CCA369379443ATP6V0A4c.1723C>G (p.Gln575Glu)
c.949C>G (p.Gln317Glu)
c.616C>G (p.Gln206Glu)
7g.138733062G=CA1746776890ATP6V0A4c.1723C= (p.Gln575=)
c.949C= (p.Gln317=)
c.616C= (p.Gln206=)
7g.138733062G>TCA369379444ATP6V0A4c.1723C>A (p.Gln575Lys)
c.949C>A (p.Gln317Lys)
c.616C>A (p.Gln206Lys)
7g.138733063C>ACA458150293ATP6V0A4c.1722G>T (p.Leu574=)
c.948G>T (p.Leu316=)
c.615G>T (p.Leu205=)
7g.138733063C>GCA458150295ATP6V0A4c.1722G>C (p.Leu574=)
c.948G>C (p.Leu316=)
c.615G>C (p.Leu205=)
7g.138733063C>TCA458150296ATP6V0A4c.1722G>A (p.Leu574=)
c.948G>A (p.Leu316=)
c.615G>A (p.Leu205=)
 gnomAD v4
7g.138733064A>CCA369379446ATP6V0A4c.1721T>G (p.Leu574Arg)
c.947T>G (p.Leu316Arg)
c.614T>G (p.Leu205Arg)
7g.138733064A>GCA369379447ATP6V0A4c.1721T>C (p.Leu574Pro)
c.947T>C (p.Leu316Pro)
c.614T>C (p.Leu205Pro)
7g.138733064A>TCA369379448ATP6V0A4c.1721T>A (p.Leu574Gln)
c.947T>A (p.Leu316Gln)
c.614T>A (p.Leu205Gln)
7g.138733065G>ACA458150302ATP6V0A4c.1720C>T (p.Leu574=)
c.946C>T (p.Leu316=)
c.613C>T (p.Leu205=)
7g.138733065G>CCA369379449ATP6V0A4c.1720C>G (p.Leu574Val)
c.946C>G (p.Leu316Val)
c.613C>G (p.Leu205Val)
7g.138733065G>TCA369379450ATP6V0A4c.1720C>A (p.Leu574Met)
c.946C>A (p.Leu316Met)
c.613C>A (p.Leu205Met)
7g.138733066_138733072dupCA2685127695ATP6V0A4c.1714_1720dup (p.Leu574HisfsTer8)
c.940_946dup (p.Leu316HisfsTer8)
c.607_613dup (p.Leu205HisfsTer8)
 gnomAD v4
7g.138733066A=CA1746776891ATP6V0A4c.1719T= (p.Ile573=)
c.945T= (p.Ile315=)
c.612T= (p.Ile204=)
7g.138733066A>CCA369379451ATP6V0A4c.1719T>G (p.Ile573Met)
c.945T>G (p.Ile315Met)
c.612T>G (p.Ile204Met)
7g.138733066A>GCA4504663ATP6V0A4c.1719T>C (p.Ile573=)
c.945T>C (p.Ile315=)
c.612T>C (p.Ile204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733066A>TCA458150304ATP6V0A4c.1719T>A (p.Ile573=)
c.945T>A (p.Ile315=)
c.612T>A (p.Ile204=)
7g.138733067A>CCA369379452ATP6V0A4c.1718T>G (p.Ile573Ser)
c.944T>G (p.Ile315Ser)
c.611T>G (p.Ile204Ser)
7g.138733067A>GCA369379453ATP6V0A4c.1718T>C (p.Ile573Thr)
c.944T>C (p.Ile315Thr)
c.611T>C (p.Ile204Thr)
7g.138733067A>TCA369379454ATP6V0A4c.1718T>A (p.Ile573Asn)
c.944T>A (p.Ile315Asn)
c.611T>A (p.Ile204Asn)
7g.138733068T>ACA369379456ATP6V0A4c.1717A>T (p.Ile573Phe)
c.943A>T (p.Ile315Phe)
c.610A>T (p.Ile204Phe)
7g.138733068T>CCA4504664ATP6V0A4c.1717A>G (p.Ile573Val)
c.943A>G (p.Ile315Val)
c.610A>G (p.Ile204Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733068T>GCA369379455ATP6V0A4c.1717A>C (p.Ile573Leu)
c.943A>C (p.Ile315Leu)
c.610A>C (p.Ile204Leu)
7g.138733068T=CA1746776892ATP6V0A4c.1717A= (p.Ile573=)
c.943A= (p.Ile315=)
c.610A= (p.Ile204=)
7g.138733069G>ACA458150306ATP6V0A4c.1716C>T (p.Ile572=)
c.942C>T (p.Ile314=)
c.609C>T (p.Ile203=)
 gnomAD v4
7g.138733069G>CCA369379457ATP6V0A4c.1716C>G (p.Ile572Met)
c.942C>G (p.Ile314Met)
c.609C>G (p.Ile203Met)
7g.138733069G>TCA458150307ATP6V0A4c.1716C>A (p.Ile572=)
c.942C>A (p.Ile314=)
c.609C>A (p.Ile203=)

Number of alleles fetched