Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138733045_138733046delinsTGCA2580077501ATP6V0A4c.1739_1740delinsCA (p.Met580Thr)
c.965_966delinsCA (p.Met322Thr)
c.632_633delinsCA (p.Met211Thr)
 ClinVar
7g.138733046A=CA1630834986ATP6V0A4c.1739T= (p.Met580=)
c.965T= (p.Met322=)
c.632T= (p.Met211=)
7g.138733046A>CCA369379404ATP6V0A4c.1739T>G (p.Met580Arg)
c.965T>G (p.Met322Arg)
c.632T>G (p.Met211Arg)
7g.138733046A>GCA117293ATP6V0A4c.1739T>C (p.Met580Thr)
c.965T>C (p.Met322Thr)
c.632T>C (p.Met211Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733046A>TCA369379405ATP6V0A4c.1739T>A (p.Met580Lys)
c.965T>A (p.Met322Lys)
c.632T>A (p.Met211Lys)
7g.138733047T>ACA369379408ATP6V0A4c.1738A>T (p.Met580Leu)
c.964A>T (p.Met322Leu)
c.631A>T (p.Met211Leu)
7g.138733047T>CCA369379407ATP6V0A4c.1738A>G (p.Met580Val)
c.964A>G (p.Met322Val)
c.631A>G (p.Met211Val)
7g.138733047T>GCA369379406ATP6V0A4c.1738A>C (p.Met580Leu)
c.964A>C (p.Met322Leu)
c.631A>C (p.Met211Leu)
7g.138733048C>ACA369379409ATP6V0A4c.1737G>T (p.Glu579Asp)
c.963G>T (p.Glu321Asp)
c.630G>T (p.Glu210Asp)
7g.138733048C=CA1746776882ATP6V0A4c.1737G= (p.Glu579=)
c.963G= (p.Glu321=)
c.630G= (p.Glu210=)
7g.138733048C>GCA369379410ATP6V0A4c.1737G>C (p.Glu579Asp)
c.963G>C (p.Glu321Asp)
c.630G>C (p.Glu210Asp)
7g.138733048C>TCA4504661ATP6V0A4c.1737G>A (p.Glu579=)
c.963G>A (p.Glu321=)
c.630G>A (p.Glu210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733049T>ACA369379411ATP6V0A4c.1736A>T (p.Glu579Val)
c.962A>T (p.Glu321Val)
c.629A>T (p.Glu210Val)
7g.138733049T>CCA369379412ATP6V0A4c.1736A>G (p.Glu579Gly)
c.962A>G (p.Glu321Gly)
c.629A>G (p.Glu210Gly)
 gnomAD v4
7g.138733049T>GCA369379413ATP6V0A4c.1736A>C (p.Glu579Ala)
c.962A>C (p.Glu321Ala)
c.629A>C (p.Glu210Ala)
 gnomAD v4
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=)
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=)
7g.138733070A>CCA369379458ATP6V0A4c.1715T>G (p.Ile572Ser)
c.941T>G (p.Ile314Ser)
c.608T>G (p.Ile203Ser)
7g.138733070A>GCA369379459ATP6V0A4c.1715T>C (p.Ile572Thr)
c.941T>C (p.Ile314Thr)
c.608T>C (p.Ile203Thr)
7g.138733070A>TCA369379460ATP6V0A4c.1715T>A (p.Ile572Asn)
c.941T>A (p.Ile314Asn)
c.608T>A (p.Ile203Asn)
7g.138733071T>ACA369379461ATP6V0A4c.1714A>T (p.Ile572Phe)
c.940A>T (p.Ile314Phe)
c.607A>T (p.Ile203Phe)
7g.138733071T>CCA369379462ATP6V0A4c.1714A>G (p.Ile572Val)
c.940A>G (p.Ile314Val)
c.607A>G (p.Ile203Val)
7g.138733071T>GCA369379463ATP6V0A4c.1714A>C (p.Ile572Leu)
c.940A>C (p.Ile314Leu)
c.607A>C (p.Ile203Leu)
7g.138733072G>ACA458150309ATP6V0A4c.1713C>T (p.Asn571=)
c.939C>T (p.Asn313=)
c.606C>T (p.Asn202=)
 gnomAD v4
7g.138733072G>CCA369379464ATP6V0A4c.1713C>G (p.Asn571Lys)
c.939C>G (p.Asn313Lys)
c.606C>G (p.Asn202Lys)
7g.138733072G>TCA369379465ATP6V0A4c.1713C>A (p.Asn571Lys)
c.939C>A (p.Asn313Lys)
c.606C>A (p.Asn202Lys)
7g.138733073T>ACA369379466ATP6V0A4c.1712A>T (p.Asn571Ile)
c.938A>T (p.Asn313Ile)
c.605A>T (p.Asn202Ile)
 gnomAD v4
7g.138733073T>CCA369379467ATP6V0A4c.1712A>G (p.Asn571Ser)
c.938A>G (p.Asn313Ser)
c.605A>G (p.Asn202Ser)
 dbSNP gnomAD v4
7g.138733073T>GCA369379468ATP6V0A4c.1712A>C (p.Asn571Thr)
c.938A>C (p.Asn313Thr)
c.605A>C (p.Asn202Thr)
7g.138733073T=CA1746776893ATP6V0A4c.1712A= (p.Asn571=)
c.938A= (p.Asn313=)
c.605A= (p.Asn202=)
7g.138733074T>ACA369379470ATP6V0A4c.1711A>T (p.Asn571Tyr)
c.937A>T (p.Asn313Tyr)
c.604A>T (p.Asn202Tyr)
7g.138733074T>CCA167133199ATP6V0A4c.1711A>G (p.Asn571Asp)
c.937A>G (p.Asn313Asp)
c.604A>G (p.Asn202Asp)
 dbSNP
7g.138733074T>GCA369379469ATP6V0A4c.1711A>C (p.Asn571His)
c.937A>C (p.Asn313His)
c.604A>C (p.Asn202His)
7g.138733074T=CA1746776894ATP6V0A4c.1711A= (p.Asn571=)
c.937A= (p.Asn313=)
c.604A= (p.Asn202=)
7g.138733075G>ACA458150312ATP6V0A4c.1710C>T (p.Leu570=)
c.936C>T (p.Leu312=)
c.603C>T (p.Leu201=)
 dbSNP
7g.138733075G>CCA458150313ATP6V0A4c.1710C>G (p.Leu570=)
c.936C>G (p.Leu312=)
c.603C>G (p.Leu201=)
7g.138733075G>TCA458150314ATP6V0A4c.1710C>A (p.Leu570=)
c.936C>A (p.Leu312=)
c.603C>A (p.Leu201=)
7g.138733076A>CCA369379471ATP6V0A4c.1709T>G (p.Leu570Arg)
c.935T>G (p.Leu312Arg)
c.602T>G (p.Leu201Arg)
7g.138733076A>GCA369379472ATP6V0A4c.1709T>C (p.Leu570Pro)
c.935T>C (p.Leu312Pro)
c.602T>C (p.Leu201Pro)
7g.138733076A>TCA369379473ATP6V0A4c.1709T>A (p.Leu570His)
c.935T>A (p.Leu312His)
c.602T>A (p.Leu201His)
7g.138733077G>ACA167133204ATP6V0A4c.1708C>T (p.Leu570Phe)
c.934C>T (p.Leu312Phe)
c.601C>T (p.Leu201Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.138733077G>CCA369379474ATP6V0A4c.1708C>G (p.Leu570Val)
c.934C>G (p.Leu312Val)
c.601C>G (p.Leu201Val)
7g.138733077G=CA1746776895ATP6V0A4c.1708C= (p.Leu570=)
c.934C= (p.Leu312=)
c.601C= (p.Leu201=)
7g.138733077G>TCA369379475ATP6V0A4c.1708C>A (p.Leu570Ile)
c.934C>A (p.Leu312Ile)
c.601C>A (p.Leu201Ile)
7g.138733078A=CA1746776896ATP6V0A4c.1707T= (p.Thr569=)
c.933T= (p.Thr311=)
c.600T= (p.Thr200=)
7g.138733078A>CCA458150320ATP6V0A4c.1707T>G (p.Thr569=)
c.933T>G (p.Thr311=)
c.600T>G (p.Thr200=)
7g.138733078A>GCA458150318ATP6V0A4c.1707T>C (p.Thr569=)
c.933T>C (p.Thr311=)
c.600T>C (p.Thr200=)
7g.138733078A>TCA458150316ATP6V0A4c.1707T>A (p.Thr569=)
c.933T>A (p.Thr311=)
c.600T>A (p.Thr200=)
 dbSNP
7g.138733079G>ACA369379476ATP6V0A4c.1706C>T (p.Thr569Ile)
c.932C>T (p.Thr311Ile)
c.599C>T (p.Thr200Ile)
7g.138733079G>CCA369379477ATP6V0A4c.1706C>G (p.Thr569Ser)
c.932C>G (p.Thr311Ser)
c.599C>G (p.Thr200Ser)
7g.138733079G>TCA369379478ATP6V0A4c.1706C>A (p.Thr569Asn)
c.932C>A (p.Thr311Asn)
c.599C>A (p.Thr200Asn)
7g.138733080T>ACA369379479ATP6V0A4c.1705A>T (p.Thr569Ser)
c.931A>T (p.Thr311Ser)
c.598A>T (p.Thr200Ser)
7g.138733080T>CCA369379480ATP6V0A4c.1705A>G (p.Thr569Ala)
c.931A>G (p.Thr311Ala)
c.598A>G (p.Thr200Ala)
7g.138733080T>GCA369379481ATP6V0A4c.1705A>C (p.Thr569Pro)
c.931A>C (p.Thr311Pro)
c.598A>C (p.Thr200Pro)
7g.138733081T>ACA369379483ATP6V0A4c.1704A>T (p.Arg568Ser)
c.930A>T (p.Arg310Ser)
c.597A>T (p.Arg199Ser)
 gnomAD v4
7g.138733081T>CCA458150325ATP6V0A4c.1704A>G (p.Arg568=)
c.930A>G (p.Arg310=)
c.597A>G (p.Arg199=)
 dbSNP gnomAD v2 gnomAD v4
7g.138733081T>GCA369379482ATP6V0A4c.1704A>C (p.Arg568Ser)
c.930A>C (p.Arg310Ser)
c.597A>C (p.Arg199Ser)
7g.138733081T=CA1746776898ATP6V0A4c.1704A= (p.Arg568=)
c.930A= (p.Arg310=)
c.597A= (p.Arg199=)
7g.138733081_138733082delinsTCCA1746776897ATP6V0A4c.1703_1704delinsGA (p.Arg568=)
c.929_930delinsGA (p.Arg310=)
c.596_597delinsGA (p.Arg199=)
7g.138733082delCA834053306ATP6V0A4c.1703del (p.Arg568LysfsTer13)
c.929del (p.Arg310LysfsTer13)
c.596del (p.Arg199LysfsTer13)
 dbSNP gnomAD v3 gnomAD v4
7g.138733082C>ACA4504666ATP6V0A4c.1703G>T (p.Arg568Ile)
c.929G>T (p.Arg310Ile)
c.596G>T (p.Arg199Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733082C=CA1746776899ATP6V0A4c.1703G= (p.Arg568=)
c.929G= (p.Arg310=)
c.596G= (p.Arg199=)
7g.138733082C>GCA4504665ATP6V0A4c.1703G>C (p.Arg568Thr)
c.929G>C (p.Arg310Thr)
c.596G>C (p.Arg199Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733082C>TCA369379484ATP6V0A4c.1703G>A (p.Arg568Lys)
c.929G>A (p.Arg310Lys)
c.596G>A (p.Arg199Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.138733083T>ACA369379485ATP6V0A4c.1702A>T (p.Arg568Ter)
c.928A>T (p.Arg310Ter)
c.595A>T (p.Arg199Ter)
7g.138733083T>CCA167133209ATP6V0A4c.1702A>G (p.Arg568Gly)
c.928A>G (p.Arg310Gly)
c.595A>G (p.Arg199Gly)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.138733083T>GCA458150329ATP6V0A4c.1702A>C (p.Arg568=)
c.928A>C (p.Arg310=)
c.595A>C (p.Arg199=)
7g.138733083T=CA1746776900ATP6V0A4c.1702A= (p.Arg568=)
c.928A= (p.Arg310=)
c.595A= (p.Arg199=)
7g.138733084T>ACA369379486ATP6V0A4c.1701A>T (p.Arg567Ser)
c.927A>T (p.Arg309Ser)
c.594A>T (p.Arg198Ser)
7g.138733084T>CCA458150330ATP6V0A4c.1701A>G (p.Arg567=)
c.927A>G (p.Arg309=)
c.594A>G (p.Arg198=)
7g.138733084T>GCA369379487ATP6V0A4c.1701A>C (p.Arg567Ser)
c.927A>C (p.Arg309Ser)
c.594A>C (p.Arg198Ser)
7g.138733085C>ACA369379490ATP6V0A4c.1700G>T (p.Arg567Ile)
c.926G>T (p.Arg309Ile)
c.593G>T (p.Arg198Ile)
7g.138733085C>GCA369379488ATP6V0A4c.1700G>C (p.Arg567Thr)
c.926G>C (p.Arg309Thr)
c.593G>C (p.Arg198Thr)
7g.138733085C>TCA369379489ATP6V0A4c.1700G>A (p.Arg567Lys)
c.926G>A (p.Arg309Lys)
c.593G>A (p.Arg198Lys)
 COSMIC
7g.138733086T>ACA369379491ATP6V0A4c.1699A>T (p.Arg567Ter)
c.925A>T (p.Arg309Ter)
c.592A>T (p.Arg198Ter)
7g.138733086T>CCA369379492ATP6V0A4c.1699A>G (p.Arg567Gly)
c.925A>G (p.Arg309Gly)
c.592A>G (p.Arg198Gly)
 gnomAD v4
7g.138733086T>GCA458150332ATP6V0A4c.1699A>C (p.Arg567=)
c.925A>C (p.Arg309=)
c.592A>C (p.Arg198=)
 dbSNP
7g.138733086T=CA1746776901ATP6V0A4c.1699A= (p.Arg567=)
c.925A= (p.Arg309=)
c.592A= (p.Arg198=)
7g.138733087G>ACA167133215ATP6V0A4c.1698C>T (p.Phe566=)
c.924C>T (p.Phe308=)
c.591C>T (p.Phe197=)
 dbSNP COSMIC
7g.138733087G>CCA369379493ATP6V0A4c.1698C>G (p.Phe566Leu)
c.924C>G (p.Phe308Leu)
c.591C>G (p.Phe197Leu)
7g.138733087G=CA1746776902ATP6V0A4c.1698C= (p.Phe566=)
c.924C= (p.Phe308=)
c.591C= (p.Phe197=)
7g.138733087G>TCA369379494ATP6V0A4c.1698C>A (p.Phe566Leu)
c.924C>A (p.Phe308Leu)
c.591C>A (p.Phe197Leu)
7g.138733088A=CA1746776903ATP6V0A4c.1697T= (p.Phe566=)
c.923T= (p.Phe308=)
c.590T= (p.Phe197=)
7g.138733088A>CCA369379495ATP6V0A4c.1697T>G (p.Phe566Cys)
c.923T>G (p.Phe308Cys)
c.590T>G (p.Phe197Cys)
 gnomAD v4
7g.138733088A>GCA167133216ATP6V0A4c.1697T>C (p.Phe566Ser)
c.923T>C (p.Phe308Ser)
c.590T>C (p.Phe197Ser)
 dbSNP gnomAD v4
7g.138733088A>TCA369379496ATP6V0A4c.1697T>A (p.Phe566Tyr)
c.923T>A (p.Phe308Tyr)
c.590T>A (p.Phe197Tyr)
7g.138733089A>CCA369379497ATP6V0A4c.1696T>G (p.Phe566Val)
c.922T>G (p.Phe308Val)
c.589T>G (p.Phe197Val)
7g.138733089A>GCA369379498ATP6V0A4c.1696T>C (p.Phe566Leu)
c.922T>C (p.Phe308Leu)
c.589T>C (p.Phe197Leu)
7g.138733089A>TCA369379499ATP6V0A4c.1696T>A (p.Phe566Ile)
c.922T>A (p.Phe308Ile)
c.589T>A (p.Phe197Ile)
7g.138733090G>ACA458150337ATP6V0A4c.1695C>T (p.Tyr565=)
c.921C>T (p.Tyr307=)
c.588C>T (p.Tyr196=)
7g.138733090G>CCA369379500ATP6V0A4c.1695C>G (p.Tyr565Ter)
c.921C>G (p.Tyr307Ter)
c.588C>G (p.Tyr196Ter)
7g.138733090G>TCA369379501ATP6V0A4c.1695C>A (p.Tyr565Ter)
c.921C>A (p.Tyr307Ter)
c.588C>A (p.Tyr196Ter)
7g.138733091T>ACA369379502ATP6V0A4c.1694A>T (p.Tyr565Phe)
c.920A>T (p.Tyr307Phe)
c.587A>T (p.Tyr196Phe)
7g.138733091T>CCA369379503ATP6V0A4c.1694A>G (p.Tyr565Cys)
c.920A>G (p.Tyr307Cys)
c.587A>G (p.Tyr196Cys)
7g.138733091T>GCA369379504ATP6V0A4c.1694A>C (p.Tyr565Ser)
c.920A>C (p.Tyr307Ser)
c.587A>C (p.Tyr196Ser)
7g.138733092A>CCA369379505ATP6V0A4c.1693T>G (p.Tyr565Asp)
c.919T>G (p.Tyr307Asp)
c.586T>G (p.Tyr196Asp)
7g.138733092A>GCA369379506ATP6V0A4c.1693T>C (p.Tyr565His)
c.919T>C (p.Tyr307His)
c.586T>C (p.Tyr196His)
7g.138733092A>TCA369379507ATP6V0A4c.1693T>A (p.Tyr565Asn)
c.919T>A (p.Tyr307Asn)
c.586T>A (p.Tyr196Asn)
7g.138733093T>ACA458150344ATP6V0A4c.1692A>T (p.Ile564=)
c.918A>T (p.Ile306=)
c.585A>T (p.Ile195=)
 gnomAD v4
7g.138733093T>CCA369379508ATP6V0A4c.1692A>G (p.Ile564Met)
c.918A>G (p.Ile306Met)
c.585A>G (p.Ile195Met)
7g.138733093T>GCA458150342ATP6V0A4c.1692A>C (p.Ile564=)
c.918A>C (p.Ile306=)
c.585A>C (p.Ile195=)
7g.138733094C>ACA369379509ATP6V0A4c.1692-1G>T (n.1692-1G>T)
c.918-1G>T (n.918-1G>T)
c.585-1G>T (n.585-1G>T)
7g.138733094C=CA1746776904ATP6V0A4c.1692-1G= (n.1692-1G=)
c.918-1G= (n.918-1G=)
c.585-1G= (n.585-1G=)
7g.138733094C>GCA369379511ATP6V0A4c.1692-1G>C (n.1692-1G>C)
c.918-1G>C (n.918-1G>C)
c.585-1G>C (n.585-1G>C)
7g.138733094C>TCA369379510ATP6V0A4c.1692-1G>A (n.1692-1G>A)
c.918-1G>A (n.918-1G>A)
c.585-1G>A (n.585-1G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.138733095T>ACA369379512ATP6V0A4c.1692-2A>T (n.1692-2A>T)
c.918-2A>T (n.918-2A>T)
c.585-2A>T (n.585-2A>T)
7g.138733095T>CCA369379513ATP6V0A4c.1692-2A>G (n.1692-2A>G)
c.918-2A>G (n.918-2A>G)
c.585-2A>G (n.585-2A>G)
7g.138733095T>GCA369379514ATP6V0A4c.1692-2A>C (n.1692-2A>C)
c.918-2A>C (n.918-2A>C)
c.585-2A>C (n.585-2A>C)
7g.138733096G>ACA4504667ATP6V0A4c.1692-3C>T (n.1692-3C>T)
c.918-3C>T (n.918-3C>T)
c.585-3C>T (n.585-3C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.138733096G=CA1746776905ATP6V0A4c.1692-3C= (n.1692-3C=)
c.918-3C= (n.918-3C=)
c.585-3C= (n.585-3C=)
7g.138733097G>ACA2579035693ATP6V0A4c.1692-4C>T (n.1692-4C>T)
c.918-4C>T (n.918-4C>T)
c.585-4C>T (n.585-4C>T)
7g.138733098G>ACA1746776907ATP6V0A4c.1692-5C>T (n.1692-5C>T)
c.918-5C>T (n.918-5C>T)
c.585-5C>T (n.585-5C>T)
 dbSNP gnomAD v4
7g.138733098G=CA1746776906ATP6V0A4c.1692-5C= (n.1692-5C=)
c.918-5C= (n.918-5C=)
c.585-5C= (n.585-5C=)
7g.138733098G>TCA2579035694ATP6V0A4c.1692-5C>A (n.1692-5C>A)
c.918-5C>A (n.918-5C>A)
c.585-5C>A (n.585-5C>A)
7g.138733099G>ACA2778102840ATP6V0A4c.1692-6C>T (n.1692-6C>T)
c.918-6C>T (n.918-6C>T)
c.585-6C>T (n.585-6C>T)
7g.138733099G>TCA2778102841ATP6V0A4c.1692-6C>A (n.1692-6C>A)
c.918-6C>A (n.918-6C>A)
c.585-6C>A (n.585-6C>A)
7g.138733100G=CA1746776908ATP6V0A4c.1692-7C= (n.1692-7C=)
c.918-7C= (n.918-7C=)
c.585-7C= (n.585-7C=)
7g.138733100G>TCA578621962ATP6V0A4c.1692-7C>A (n.1692-7C>A)
c.918-7C>A (n.918-7C>A)
c.585-7C>A (n.585-7C>A)
 dbSNP gnomAD v2 gnomAD v4
7g.138733102G>ACA4504668ATP6V0A4c.1692-9C>T (n.1692-9C>T)
c.918-9C>T (n.918-9C>T)
c.585-9C>T (n.585-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733102G=CA1746776909ATP6V0A4c.1692-9C= (n.1692-9C=)
c.918-9C= (n.918-9C=)
c.585-9C= (n.585-9C=)
7g.138733104A>CCA2685127696ATP6V0A4c.1692-11T>G (n.1692-11T>G)
c.918-11T>G (n.918-11T>G)
c.585-11T>G (n.585-11T>G)
 gnomAD v4
7g.138733106G>TCA2685127697ATP6V0A4c.1692-13C>A (n.1692-13C>A)
c.918-13C>A (n.918-13C>A)
c.585-13C>A (n.585-13C>A)
 gnomAD v4
7g.138733107A=CA1746776910ATP6V0A4c.1692-14T= (n.1692-14T=)
c.918-14T= (n.918-14T=)
c.585-14T= (n.585-14T=)
7g.138733107A>GCA578621963ATP6V0A4c.1692-14T>C (n.1692-14T>C)
c.918-14T>C (n.918-14T>C)
c.585-14T>C (n.585-14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733108C=CA1746776911ATP6V0A4c.1692-15G= (n.1692-15G=)
c.918-15G= (n.918-15G=)
c.585-15G= (n.585-15G=)
7g.138733108C>GCA4504669ATP6V0A4c.1692-15G>C (n.1692-15G>C)
c.918-15G>C (n.918-15G>C)
c.585-15G>C (n.585-15G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733112C=CA1746776912ATP6V0A4c.1692-19G= (n.1692-19G=)
c.918-19G= (n.918-19G=)
c.585-19G= (n.585-19G=)
7g.138733112C>GCA2579035695ATP6V0A4c.1692-19G>C (n.1692-19G>C)
c.918-19G>C (n.918-19G>C)
c.585-19G>C (n.585-19G>C)
7g.138733112C>TCA1746776913ATP6V0A4c.1692-19G>A (n.1692-19G>A)
c.918-19G>A (n.918-19G>A)
c.585-19G>A (n.585-19G>A)
 dbSNP gnomAD v4
7g.138733114C>TCA2579035696ATP6V0A4c.1692-21G>A (n.1692-21G>A)
c.918-21G>A (n.918-21G>A)
c.585-21G>A (n.585-21G>A)
 gnomAD v4
7g.138733115A>GCA2685127698ATP6V0A4c.1692-22T>C (n.1692-22T>C)
c.918-22T>C (n.918-22T>C)
c.585-22T>C (n.585-22T>C)
 gnomAD v4
7g.138733116T>CCA167133237ATP6V0A4c.1692-23A>G (n.1692-23A>G)
c.918-23A>G (n.918-23A>G)
c.585-23A>G (n.585-23A>G)
 dbSNP gnomAD v2 gnomAD v4
7g.138733116T=CA1746776914ATP6V0A4c.1692-23A= (n.1692-23A=)
c.918-23A= (n.918-23A=)
c.585-23A= (n.585-23A=)
7g.138733118C=CA1746776915ATP6V0A4c.1692-25G= (n.1692-25G=)
c.918-25G= (n.918-25G=)
c.585-25G= (n.585-25G=)
7g.138733118C>TCA1746776916ATP6V0A4c.1692-25G>A (n.1692-25G>A)
c.918-25G>A (n.918-25G>A)
c.585-25G>A (n.585-25G>A)
 dbSNP gnomAD v4
7g.138733119A=CA1746776917ATP6V0A4c.1692-26T= (n.1692-26T=)
c.918-26T= (n.918-26T=)
c.585-26T= (n.585-26T=)
7g.138733119A>GCA4504670ATP6V0A4c.1692-26T>C (n.1692-26T>C)
c.918-26T>C (n.918-26T>C)
c.585-26T>C (n.585-26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733123G>ACA1746776918ATP6V0A4c.1692-30C>T (n.1692-30C>T)
c.918-30C>T (n.918-30C>T)
c.585-30C>T (n.585-30C>T)
 dbSNP
7g.138733123G=CA1746776919ATP6V0A4c.1692-30C= (n.1692-30C=)
c.918-30C= (n.918-30C=)
c.585-30C= (n.585-30C=)
7g.138733124A=CA1746776920ATP6V0A4c.1692-31T= (n.1692-31T=)
c.918-31T= (n.918-31T=)
c.585-31T= (n.585-31T=)
7g.138733124A>CCA167133252ATP6V0A4c.1692-31T>G (n.1692-31T>G)
c.918-31T>G (n.918-31T>G)
c.585-31T>G (n.585-31T>G)
 dbSNP
7g.138733125T>CCA578621964ATP6V0A4c.1692-32A>G (n.1692-32A>G)
c.918-32A>G (n.918-32A>G)
c.585-32A>G (n.585-32A>G)
 dbSNP gnomAD v2 gnomAD v4
7g.138733125T=CA1746776921ATP6V0A4c.1692-32A= (n.1692-32A=)
c.918-32A= (n.918-32A=)
c.585-32A= (n.585-32A=)
7g.138733126_138733129dupCA2685127699ATP6V0A4c.1692-36_1692-33dup (n.1692-36_1692-33dup)
c.918-36_918-33dup (n.918-36_918-33dup)
c.585-36_585-33dup (n.585-36_585-33dup)
 gnomAD v4
7g.138733127G>ACA2685127700ATP6V0A4c.1692-34C>T (n.1692-34C>T)
c.918-34C>T (n.918-34C>T)
c.585-34C>T (n.585-34C>T)
 gnomAD v4
7g.138733127G>CCA167133254ATP6V0A4c.1692-34C>G (n.1692-34C>G)
c.918-34C>G (n.918-34C>G)
c.585-34C>G (n.585-34C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733127G=CA1746776922ATP6V0A4c.1692-34C= (n.1692-34C=)
c.918-34C= (n.918-34C=)
c.585-34C= (n.585-34C=)
7g.138733127G>TCA2579035697ATP6V0A4c.1692-34C>A (n.1692-34C>A)
c.918-34C>A (n.918-34C>A)
c.585-34C>A (n.585-34C>A)
7g.138733130C=CA1746776923ATP6V0A4c.1692-37G= (n.1692-37G=)
c.918-37G= (n.918-37G=)
c.585-37G= (n.585-37G=)
7g.138733130C>TCA167133260ATP6V0A4c.1692-37G>A (n.1692-37G>A)
c.918-37G>A (n.918-37G>A)
c.585-37G>A (n.585-37G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733133C>ACA2579035698ATP6V0A4c.1692-40G>T (n.1692-40G>T)
c.918-40G>T (n.918-40G>T)
c.585-40G>T (n.585-40G>T)
 gnomAD v4
7g.138733133C=CA1746776924ATP6V0A4c.1692-40G= (n.1692-40G=)
c.918-40G= (n.918-40G=)
c.585-40G= (n.585-40G=)
7g.138733133C>TCA578621965ATP6V0A4c.1692-40G>A (n.1692-40G>A)
c.918-40G>A (n.918-40G>A)
c.585-40G>A (n.585-40G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.138733135A=CA1746776925ATP6V0A4c.1692-42T= (n.1692-42T=)
c.918-42T= (n.918-42T=)
c.585-42T= (n.585-42T=)
7g.138733135A>CCA834053361ATP6V0A4c.1692-42T>G (n.1692-42T>G)
c.918-42T>G (n.918-42T>G)
c.585-42T>G (n.585-42T>G)
 dbSNP gnomAD v3 gnomAD v4
7g.138733136G>CCA578621966ATP6V0A4c.1692-43C>G (n.1692-43C>G)
c.918-43C>G (n.918-43C>G)
c.585-43C>G (n.585-43C>G)
 dbSNP gnomAD v2 gnomAD v4
7g.138733136G=CA1746776926ATP6V0A4c.1692-43C= (n.1692-43C=)
c.918-43C= (n.918-43C=)
c.585-43C= (n.585-43C=)
7g.138733136G>TCA2685127701ATP6V0A4c.1692-43C>A (n.1692-43C>A)
c.918-43C>A (n.918-43C>A)
c.585-43C>A (n.585-43C>A)
 gnomAD v4
7g.138733138G>ACA1746776928ATP6V0A4c.1692-45C>T (n.1692-45C>T)
c.918-45C>T (n.918-45C>T)
c.585-45C>T (n.585-45C>T)
 dbSNP
7g.138733138G=CA1746776927ATP6V0A4c.1692-45C= (n.1692-45C=)
c.918-45C= (n.918-45C=)
c.585-45C= (n.585-45C=)
7g.138733140A=CA1746776929ATP6V0A4c.1692-47T= (n.1692-47T=)
c.918-47T= (n.918-47T=)
c.585-47T= (n.585-47T=)
7g.138733140A>GCA578621967ATP6V0A4c.1692-47T>C (n.1692-47T>C)
c.918-47T>C (n.918-47T>C)
c.585-47T>C (n.585-47T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.138733141C>ACA2685127702ATP6V0A4c.1692-48G>T (n.1692-48G>T)
c.918-48G>T (n.918-48G>T)
c.585-48G>T (n.585-48G>T)
 gnomAD v4
7g.138733141C=CA1746776930ATP6V0A4c.1692-48G= (n.1692-48G=)
c.918-48G= (n.918-48G=)
c.585-48G= (n.585-48G=)
7g.138733141C>GCA2715633735ATP6V0A4c.1692-48G>C (n.1692-48G>C)
c.918-48G>C (n.918-48G>C)
c.585-48G>C (n.585-48G>C)
 dbSNP
7g.138733141C>TCA4504671ATP6V0A4c.1692-48G>A (n.1692-48G>A)
c.918-48G>A (n.918-48G>A)
c.585-48G>A (n.585-48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733142G>ACA4504672ATP6V0A4c.1692-49C>T (n.1692-49C>T)
c.918-49C>T (n.918-49C>T)
c.585-49C>T (n.585-49C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733142G>CCA2580753874ATP6V0A4c.1692-49C>G (n.1692-49C>G)
c.918-49C>G (n.918-49C>G)
c.585-49C>G (n.585-49C>G)
 gnomAD v4
7g.138733142G=CA1746776931ATP6V0A4c.1692-49C= (n.1692-49C=)
c.918-49C= (n.918-49C=)
c.585-49C= (n.585-49C=)
7g.138733142G>TCA2580753873ATP6V0A4c.1692-49C>A (n.1692-49C>A)
c.918-49C>A (n.918-49C>A)
c.585-49C>A (n.585-49C>A)
 gnomAD v4
7g.138733143T>GCA2685127703ATP6V0A4c.1692-50A>C (n.1692-50A>C)
c.918-50A>C (n.918-50A>C)
c.585-50A>C (n.585-50A>C)
 gnomAD v4
7g.138733146G>CCA2778102844ATP6V0A4c.1692-53C>G (n.1692-53C>G)
c.918-53C>G (n.918-53C>G)
c.585-53C>G (n.585-53C>G)
7g.138733146G>TCA2685127704ATP6V0A4c.1692-53C>A (n.1692-53C>A)
c.918-53C>A (n.918-53C>A)
c.585-53C>A (n.585-53C>A)
 gnomAD v4

Number of alleles fetched