Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138734135C>ACA369379570ATP6V0A4c.1691+1G>T (n.1691+1G>T)
c.917+1G>T (n.917+1G>T)
c.584+1G>T (n.584+1G>T)
7g.138734135C=CA1746777466ATP6V0A4c.1691+1G= (n.1691+1G=)
c.917+1G= (n.917+1G=)
c.584+1G= (n.584+1G=)
7g.138734135C>GCA369379572ATP6V0A4c.1691+1G>C (n.1691+1G>C)
c.917+1G>C (n.917+1G>C)
c.584+1G>C (n.584+1G>C)
7g.138734135C>TCA117291ATP6V0A4c.1691+1G>A (n.1691+1G>A)
c.917+1G>A (n.917+1G>A)
c.584+1G>A (n.584+1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.138734136A=CA1746777467ATP6V0A4c.1691T= (p.Ile564=)
c.917T= (p.Ile306=)
c.584T= (p.Ile195=)
7g.138734136A>CCA369379575ATP6V0A4c.1691T>G (p.Ile564Arg)
c.917T>G (p.Ile306Arg)
c.584T>G (p.Ile195Arg)
gnomAD v4
7g.138734136A>GCA167133981ATP6V0A4c.1691T>C (p.Ile564Thr)
c.917T>C (p.Ile306Thr)
c.584T>C (p.Ile195Thr)
dbSNP gnomAD v4
7g.138734136A>TCA369379576ATP6V0A4c.1691T>A (p.Ile564Lys)
c.917T>A (p.Ile306Lys)
c.584T>A (p.Ile195Lys)
7g.138734136_138734142delinsATGTGATCA1746777468ATP6V0A4c.1685_1691delinsATCACAT (p.Asn562=)
c.911_917delinsATCACAT (p.Asn304=)
c.578_584delinsATCACAT (p.Asn193=)
7g.138734137T>ACA369379579ATP6V0A4c.1690A>T (p.Ile564Leu)
c.916A>T (p.Ile306Leu)
c.583A>T (p.Ile195Leu)
7g.138734137T>CCA369379580ATP6V0A4c.1690A>G (p.Ile564Val)
c.916A>G (p.Ile306Val)
c.583A>G (p.Ile195Val)
gnomAD v4
7g.138734137T>GCA369379582ATP6V0A4c.1690A>C (p.Ile564Leu)
c.916A>C (p.Ile306Leu)
c.583A>C (p.Ile195Leu)
7g.138734139_138734144delCA918143650ATP6V0A4c.1685_1690del (p.Asn562_His563del)
c.911_916del (p.Asn304_His305del)
c.578_583del (p.Asn193_His194del)
dbSNP
7g.138734138G>ACA4504687ATP6V0A4c.1689C>T (p.His563=)
c.915C>T (p.His305=)
c.582C>T (p.His194=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.138734138G>CCA369379585ATP6V0A4c.1689C>G (p.His563Gln)
c.915C>G (p.His305Gln)
c.582C>G (p.His194Gln)
7g.138734138G=CA1746777469ATP6V0A4c.1689C= (p.His563=)
c.915C= (p.His305=)
c.582C= (p.His194=)
7g.138734138G>TCA4504686ATP6V0A4c.1689C>A (p.His563Gln)
c.915C>A (p.His305Gln)
c.582C>A (p.His194Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138734139T>ACA4504688ATP6V0A4c.1688A>T (p.His563Leu)
c.914A>T (p.His305Leu)
c.581A>T (p.His194Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138734139T>CCA369379591ATP6V0A4c.1688A>G (p.His563Arg)
c.914A>G (p.His305Arg)
c.581A>G (p.His194Arg)
7g.138734139T>GCA369379593ATP6V0A4c.1688A>C (p.His563Pro)
c.914A>C (p.His305Pro)
c.581A>C (p.His194Pro)
7g.138734139T=CA1746777470ATP6V0A4c.1688A= (p.His563=)
c.914A= (p.His305=)
c.581A= (p.His194=)
7g.138734140G>ACA369379594ATP6V0A4c.1687C>T (p.His563Tyr)
c.913C>T (p.His305Tyr)
c.580C>T (p.His194Tyr)
7g.138734140G>CCA369379596ATP6V0A4c.1687C>G (p.His563Asp)
c.913C>G (p.His305Asp)
c.580C>G (p.His194Asp)
7g.138734140G>TCA369379597ATP6V0A4c.1687C>A (p.His563Asn)
c.913C>A (p.His305Asn)
c.580C>A (p.His194Asn)
gnomAD v4
7g.138734141A=CA1746777471ATP6V0A4c.1686T= (p.Asn562=)
c.912T= (p.Asn304=)
c.579T= (p.Asn193=)
7g.138734141A>CCA369379598ATP6V0A4c.1686T>G (p.Asn562Lys)
c.912T>G (p.Asn304Lys)
c.579T>G (p.Asn193Lys)
dbSNP
7g.138734141A>GCA457941935ATP6V0A4c.1686T>C (p.Asn562=)
c.912T>C (p.Asn304=)
c.579T>C (p.Asn193=)
7g.138734141A>TCA369379600ATP6V0A4c.1686T>A (p.Asn562Lys)
c.912T>A (p.Asn304Lys)
c.579T>A (p.Asn193Lys)
7g.138734142T>ACA369379602ATP6V0A4c.1685A>T (p.Asn562Ile)
c.911A>T (p.Asn304Ile)
c.578A>T (p.Asn193Ile)
7g.138734142T>CCA369379604ATP6V0A4c.1685A>G (p.Asn562Ser)
c.911A>G (p.Asn304Ser)
c.578A>G (p.Asn193Ser)
gnomAD v4
7g.138734142T>GCA369379605ATP6V0A4c.1685A>C (p.Asn562Thr)
c.911A>C (p.Asn304Thr)
c.578A>C (p.Asn193Thr)
7g.138734143T>ACA369379606ATP6V0A4c.1684A>T (p.Asn562Tyr)
c.910A>T (p.Asn304Tyr)
c.577A>T (p.Asn193Tyr)
7g.138734143T>CCA167134011ATP6V0A4c.1684A>G (p.Asn562Asp)
c.910A>G (p.Asn304Asp)
c.577A>G (p.Asn193Asp)
dbSNP
7g.138734143T>GCA369379607ATP6V0A4c.1684A>C (p.Asn562His)
c.910A>C (p.Asn304His)
c.577A>C (p.Asn193His)
7g.138734143T=CA1746777472ATP6V0A4c.1684A= (p.Asn562=)
c.910A= (p.Asn304=)
c.577A= (p.Asn193=)
7g.138734144G>ACA457941938ATP6V0A4c.1683C>T (p.Phe561=)
c.909C>T (p.Phe303=)
c.576C>T (p.Phe192=)
7g.138734144G>CCA369379609ATP6V0A4c.1683C>G (p.Phe561Leu)
c.909C>G (p.Phe303Leu)
c.576C>G (p.Phe192Leu)
7g.138734144G>TCA369379608ATP6V0A4c.1683C>A (p.Phe561Leu)
c.909C>A (p.Phe303Leu)
c.576C>A (p.Phe192Leu)
gnomAD v4
7g.138734145A=CA1746777473ATP6V0A4c.1682T= (p.Phe561=)
c.908T= (p.Phe303=)
c.575T= (p.Phe192=)
7g.138734145A>CCA4504689ATP6V0A4c.1682T>G (p.Phe561Cys)
c.908T>G (p.Phe303Cys)
c.575T>G (p.Phe192Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.138734145A>GCA369379612ATP6V0A4c.1682T>C (p.Phe561Ser)
c.908T>C (p.Phe303Ser)
c.575T>C (p.Phe192Ser)
7g.138734145A>TCA369379614ATP6V0A4c.1682T>A (p.Phe561Tyr)
c.908T>A (p.Phe303Tyr)
c.575T>A (p.Phe192Tyr)
7g.138734148delCA2685128057ATP6V0A4c.1682del (p.Phe561SerfsTer20)
c.908del (p.Phe303SerfsTer20)
c.575del (p.Phe192SerfsTer20)
gnomAD v4
7g.138734146A=CA1746777474ATP6V0A4c.1681T= (p.Phe561=)
c.907T= (p.Phe303=)
c.574T= (p.Phe192=)
7g.138734146A>CCA369379615ATP6V0A4c.1681T>G (p.Phe561Val)
c.907T>G (p.Phe303Val)
c.574T>G (p.Phe192Val)
7g.138734146A>GCA369379617ATP6V0A4c.1681T>C (p.Phe561Leu)
c.907T>C (p.Phe303Leu)
c.574T>C (p.Phe192Leu)
7g.138734146A>TCA4504690ATP6V0A4c.1681T>A (p.Phe561Ile)
c.907T>A (p.Phe303Ile)
c.574T>A (p.Phe192Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.138734147A>CCA457941945ATP6V0A4c.1680T>G (p.Leu560=)
c.906T>G (p.Leu302=)
c.573T>G (p.Leu191=)
7g.138734147A>GCA457941946ATP6V0A4c.1680T>C (p.Leu560=)
c.906T>C (p.Leu302=)
c.573T>C (p.Leu191=)
7g.138734147A>TCA457941947ATP6V0A4c.1680T>A (p.Leu560=)
c.906T>A (p.Leu302=)
c.573T>A (p.Leu191=)

Number of alleles fetched