Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138739564A>CCA369370228ATP6V0A4c.1548T>G (p.Asn516Lys)
c.774T>G (p.Asn258Lys)
c.441T>G (p.Asn147Lys)
n.252-5310T>G
7g.138739564A>GCA457938038ATP6V0A4c.1548T>C (p.Asn516=)
c.774T>C (p.Asn258=)
c.441T>C (p.Asn147=)
n.252-5310T>C
7g.138739564A>TCA369370229ATP6V0A4c.1548T>A (p.Asn516Lys)
c.774T>A (p.Asn258Lys)
c.441T>A (p.Asn147Lys)
n.252-5310T>A
7g.138739565T>ACA369370230ATP6V0A4c.1547A>T (p.Asn516Ile)
c.773A>T (p.Asn258Ile)
c.440A>T (p.Asn147Ile)
n.252-5311A>T
7g.138739565T>CCA369370231ATP6V0A4c.1547A>G (p.Asn516Ser)
c.773A>G (p.Asn258Ser)
c.440A>G (p.Asn147Ser)
n.252-5311A>G
7g.138739565T>GCA369370232ATP6V0A4c.1547A>C (p.Asn516Thr)
c.773A>C (p.Asn258Thr)
c.440A>C (p.Asn147Thr)
n.252-5311A>C
7g.138739566T>ACA369370233ATP6V0A4c.1546A>T (p.Asn516Tyr)
c.772A>T (p.Asn258Tyr)
c.439A>T (p.Asn147Tyr)
n.252-5312A>T
7g.138739566T>CCA369370234ATP6V0A4c.1546A>G (p.Asn516Asp)
c.772A>G (p.Asn258Asp)
c.439A>G (p.Asn147Asp)
n.252-5312A>G
7g.138739566T>GCA369370235ATP6V0A4c.1546A>C (p.Asn516His)
c.772A>C (p.Asn258His)
c.439A>C (p.Asn147His)
n.252-5312A>C
7g.138739567T>ACA457938040ATP6V0A4c.1545A>T (p.Gly515=)
c.771A>T (p.Gly257=)
c.438A>T (p.Gly146=)
n.252-5313A>T
7g.138739567T>CCA457938041ATP6V0A4c.1545A>G (p.Gly515=)
c.771A>G (p.Gly257=)
c.438A>G (p.Gly146=)
n.252-5313A>G
7g.138739567T>GCA457938042ATP6V0A4c.1545A>C (p.Gly515=)
c.771A>C (p.Gly257=)
c.438A>C (p.Gly146=)
n.252-5313A>C
7g.138739568C>ACA369370236ATP6V0A4c.1544G>T (p.Gly515Val)
c.770G>T (p.Gly257Val)
c.437G>T (p.Gly146Val)
n.252-5314G>T
7g.138739568C>GCA369370237ATP6V0A4c.1544G>C (p.Gly515Ala)
c.770G>C (p.Gly257Ala)
c.437G>C (p.Gly146Ala)
n.252-5314G>C
7g.138739568C>TCA369370238ATP6V0A4c.1544G>A (p.Gly515Glu)
c.770G>A (p.Gly257Glu)
c.437G>A (p.Gly146Glu)
n.252-5314G>A
7g.138739569C>ACA369370239ATP6V0A4c.1543G>T (p.Gly515Ter)
c.769G>T (p.Gly257Ter)
c.436G>T (p.Gly146Ter)
n.252-5315G>T
7g.138739569C>GCA369370240ATP6V0A4c.1543G>C (p.Gly515Arg)
c.769G>C (p.Gly257Arg)
c.436G>C (p.Gly146Arg)
n.252-5315G>C
7g.138739569C>TCA369370241ATP6V0A4c.1543G>A (p.Gly515Arg)
c.769G>A (p.Gly257Arg)
c.436G>A (p.Gly146Arg)
n.252-5315G>A
7g.138739570A>CCA369370243ATP6V0A4c.1542T>G (p.Phe514Leu)
c.768T>G (p.Phe256Leu)
c.435T>G (p.Phe145Leu)
n.252-5316T>G
7g.138739570A>GCA457938043ATP6V0A4c.1542T>C (p.Phe514=)
c.768T>C (p.Phe256=)
c.435T>C (p.Phe145=)
n.252-5316T>C
7g.138739570A>TCA369370242ATP6V0A4c.1542T>A (p.Phe514Leu)
c.768T>A (p.Phe256Leu)
c.435T>A (p.Phe145Leu)
n.252-5316T>A
7g.138739571A>CCA369370244ATP6V0A4c.1541T>G (p.Phe514Cys)
c.767T>G (p.Phe256Cys)
c.434T>G (p.Phe145Cys)
n.252-5317T>G
7g.138739571A>GCA369370245ATP6V0A4c.1541T>C (p.Phe514Ser)
c.767T>C (p.Phe256Ser)
c.434T>C (p.Phe145Ser)
n.252-5317T>C
 gnomAD v4
7g.138739571A>TCA369370246ATP6V0A4c.1541T>A (p.Phe514Tyr)
c.767T>A (p.Phe256Tyr)
c.434T>A (p.Phe145Tyr)
n.252-5317T>A
7g.138739572A=CA1746780029ATP6V0A4c.1540T= (p.Phe514=)
c.766T= (p.Phe256=)
c.433T= (p.Phe145=)
n.252-5318T=
7g.138739572A>CCA369370247ATP6V0A4c.1540T>G (p.Phe514Val)
c.766T>G (p.Phe256Val)
c.433T>G (p.Phe145Val)
n.252-5318T>G
 dbSNP gnomAD v2 gnomAD v4
7g.138739572A>GCA369370248ATP6V0A4c.1540T>C (p.Phe514Leu)
c.766T>C (p.Phe256Leu)
c.433T>C (p.Phe145Leu)
n.252-5318T>C
7g.138739572A>TCA369370249ATP6V0A4c.1540T>A (p.Phe514Ile)
c.766T>A (p.Phe256Ile)
c.433T>A (p.Phe145Ile)
n.252-5318T>A
7g.138739573A=CA1746780030ATP6V0A4c.1539T= (p.Tyr513=)
c.765T= (p.Tyr255=)
c.432T= (p.Tyr144=)
n.252-5319T=
7g.138739573A>CCA369370251ATP6V0A4c.1539T>G (p.Tyr513Ter)
c.765T>G (p.Tyr255Ter)
c.432T>G (p.Tyr144Ter)
n.252-5319T>G
 dbSNP
7g.138739573A>GCA4504739ATP6V0A4c.1539T>C (p.Tyr513=)
c.765T>C (p.Tyr255=)
c.432T>C (p.Tyr144=)
n.252-5319T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739573A>TCA369370250ATP6V0A4c.1539T>A (p.Tyr513Ter)
c.765T>A (p.Tyr255Ter)
c.432T>A (p.Tyr144Ter)
n.252-5319T>A
7g.138739574T>ACA369370252ATP6V0A4c.1538A>T (p.Tyr513Phe)
c.764A>T (p.Tyr255Phe)
c.431A>T (p.Tyr144Phe)
n.252-5320A>T
7g.138739574T>CCA369370253ATP6V0A4c.1538A>G (p.Tyr513Cys)
c.764A>G (p.Tyr255Cys)
c.431A>G (p.Tyr144Cys)
n.252-5320A>G
7g.138739574T>GCA369370254ATP6V0A4c.1538A>C (p.Tyr513Ser)
c.764A>C (p.Tyr255Ser)
c.431A>C (p.Tyr144Ser)
n.252-5320A>C
7g.138739575A=CA1746780031ATP6V0A4c.1537T= (p.Tyr513=)
c.763T= (p.Tyr255=)
c.430T= (p.Tyr144=)
n.252-5321T=
7g.138739575A>CCA369370255ATP6V0A4c.1537T>G (p.Tyr513Asp)
c.763T>G (p.Tyr255Asp)
c.430T>G (p.Tyr144Asp)
n.252-5321T>G
7g.138739575A>GCA369370256ATP6V0A4c.1537T>C (p.Tyr513His)
c.763T>C (p.Tyr255His)
c.430T>C (p.Tyr144His)
n.252-5321T>C
 dbSNP gnomAD v2 gnomAD v4
7g.138739575A>TCA369370257ATP6V0A4c.1537T>A (p.Tyr513Asn)
c.763T>A (p.Tyr255Asn)
c.430T>A (p.Tyr144Asn)
n.252-5321T>A
7g.138739576C>ACA4504740ATP6V0A4c.1536G>T (p.Val512=)
c.762G>T (p.Val254=)
c.429G>T (p.Val143=)
n.252-5322G>T
 dbSNP ExAC gnomAD v2
7g.138739576C=CA1746780032ATP6V0A4c.1536G= (p.Val512=)
c.762G= (p.Val254=)
c.429G= (p.Val143=)
n.252-5322G=
7g.138739576C>GCA457938045ATP6V0A4c.1536G>C (p.Val512=)
c.762G>C (p.Val254=)
c.429G>C (p.Val143=)
n.252-5322G>C
7g.138739576C>TCA457938046ATP6V0A4c.1536G>A (p.Val512=)
c.762G>A (p.Val254=)
c.429G>A (p.Val143=)
n.252-5322G>A
7g.138739577A>CCA369370259ATP6V0A4c.1535T>G (p.Val512Gly)
c.761T>G (p.Val254Gly)
c.428T>G (p.Val143Gly)
n.252-5323T>G
7g.138739577A>GCA369370258ATP6V0A4c.1535T>C (p.Val512Ala)
c.761T>C (p.Val254Ala)
c.428T>C (p.Val143Ala)
n.252-5323T>C
7g.138739577A>TCA369370260ATP6V0A4c.1535T>A (p.Val512Glu)
c.761T>A (p.Val254Glu)
c.428T>A (p.Val143Glu)
n.252-5323T>A
7g.138739578C>ACA4504741ATP6V0A4c.1534G>T (p.Val512Leu)
c.760G>T (p.Val254Leu)
c.427G>T (p.Val143Leu)
n.252-5324G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739578C=CA1746780033ATP6V0A4c.1534G= (p.Val512=)
c.760G= (p.Val254=)
c.427G= (p.Val143=)
n.252-5324G=
7g.138739578C>GCA369370262ATP6V0A4c.1534G>C (p.Val512Leu)
c.760G>C (p.Val254Leu)
c.427G>C (p.Val143Leu)
n.252-5324G>C
 gnomAD v4
7g.138739578C>TCA369370261ATP6V0A4c.1534G>A (p.Val512Met)
c.760G>A (p.Val254Met)
c.427G>A (p.Val143Met)
n.252-5324G>A
 gnomAD v4

Number of alleles fetched