Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138733050C>ACA369379414ATP6V0A4c.1735G>T (p.Glu579Ter)
c.961G>T (p.Glu321Ter)
c.628G>T (p.Glu210Ter)
7g.138733050C=CA1746776883ATP6V0A4c.1735G= (p.Glu579=)
c.961G= (p.Glu321=)
c.628G= (p.Glu210=)
7g.138733050C>GCA369379415ATP6V0A4c.1735G>C (p.Glu579Gln)
c.961G>C (p.Glu321Gln)
c.628G>C (p.Glu210Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733050C>TCA369379416ATP6V0A4c.1735G>A (p.Glu579Lys)
c.961G>A (p.Glu321Lys)
c.628G>A (p.Glu210Lys)
7g.138733051A>CCA458150260ATP6V0A4c.1734T>G (p.Pro578=)
c.960T>G (p.Pro320=)
c.627T>G (p.Pro209=)
 gnomAD v4
7g.138733051A>GCA458150261ATP6V0A4c.1734T>C (p.Pro578=)
c.960T>C (p.Pro320=)
c.627T>C (p.Pro209=)
7g.138733051A>TCA458150263ATP6V0A4c.1734T>A (p.Pro578=)
c.960T>A (p.Pro320=)
c.627T>A (p.Pro209=)
7g.138733052G>ACA369379417ATP6V0A4c.1733C>T (p.Pro578Leu)
c.959C>T (p.Pro320Leu)
c.626C>T (p.Pro209Leu)
 ClinVar dbSNP
7g.138733052G>CCA369379418ATP6V0A4c.1733C>G (p.Pro578Arg)
c.959C>G (p.Pro320Arg)
c.626C>G (p.Pro209Arg)
7g.138733052G=CA1746776884ATP6V0A4c.1733C= (p.Pro578=)
c.959C= (p.Pro320=)
c.626C= (p.Pro209=)
7g.138733052G>TCA369379419ATP6V0A4c.1733C>A (p.Pro578His)
c.959C>A (p.Pro320His)
c.626C>A (p.Pro209His)
7g.138733053G>ACA369379422ATP6V0A4c.1732C>T (p.Pro578Ser)
c.958C>T (p.Pro320Ser)
c.625C>T (p.Pro209Ser)
 dbSNP gnomAD v2
7g.138733053G>CCA369379421ATP6V0A4c.1732C>G (p.Pro578Ala)
c.958C>G (p.Pro320Ala)
c.625C>G (p.Pro209Ala)
 gnomAD v4
7g.138733053G=CA1746776885ATP6V0A4c.1732C= (p.Pro578=)
c.958C= (p.Pro320=)
c.625C= (p.Pro209=)
7g.138733053G>TCA369379420ATP6V0A4c.1732C>A (p.Pro578Thr)
c.958C>A (p.Pro320Thr)
c.625C>A (p.Pro209Thr)
 COSMIC
7g.138733054G>ACA458150270ATP6V0A4c.1731C>T (p.Ile577=)
c.957C>T (p.Ile319=)
c.624C>T (p.Ile208=)
 dbSNP gnomAD v4
7g.138733054G>CCA369379423ATP6V0A4c.1731C>G (p.Ile577Met)
c.957C>G (p.Ile319Met)
c.624C>G (p.Ile208Met)
7g.138733054G=CA1746776886ATP6V0A4c.1731C= (p.Ile577=)
c.957C= (p.Ile319=)
c.624C= (p.Ile208=)
7g.138733054G>TCA458150273ATP6V0A4c.1731C>A (p.Ile577=)
c.957C>A (p.Ile319=)
c.624C>A (p.Ile208=)
7g.138733055A>CCA369379425ATP6V0A4c.1730T>G (p.Ile577Ser)
c.956T>G (p.Ile319Ser)
c.623T>G (p.Ile208Ser)
7g.138733055A>GCA369379424ATP6V0A4c.1730T>C (p.Ile577Thr)
c.956T>C (p.Ile319Thr)
c.623T>C (p.Ile208Thr)
7g.138733055A>TCA369379426ATP6V0A4c.1730T>A (p.Ile577Asn)
c.956T>A (p.Ile319Asn)
c.623T>A (p.Ile208Asn)
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=)

Number of alleles fetched