Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138739546A>CCA369370191ATP6V0A4c.1566T>G (p.Ile522Met)
c.792T>G (p.Ile264Met)
c.459T>G (p.Ile153Met)
n.252-5292T>G
7g.138739546A>GCA457938022ATP6V0A4c.1566T>C (p.Ile522=)
c.792T>C (p.Ile264=)
c.459T>C (p.Ile153=)
n.252-5292T>C
7g.138739546A>TCA457938023ATP6V0A4c.1566T>A (p.Ile522=)
c.792T>A (p.Ile264=)
c.459T>A (p.Ile153=)
n.252-5292T>A
7g.138739547A=CA1746780020ATP6V0A4c.1565T= (p.Ile522=)
c.791T= (p.Ile264=)
c.458T= (p.Ile153=)
n.252-5293T=
7g.138739547A>CCA369370192ATP6V0A4c.1565T>G (p.Ile522Ser)
c.791T>G (p.Ile264Ser)
c.458T>G (p.Ile153Ser)
n.252-5293T>G
7g.138739547A>GCA369370193ATP6V0A4c.1565T>C (p.Ile522Thr)
c.791T>C (p.Ile264Thr)
c.458T>C (p.Ile153Thr)
n.252-5293T>C
dbSNP
7g.138739547A>TCA369370194ATP6V0A4c.1565T>A (p.Ile522Asn)
c.791T>A (p.Ile264Asn)
c.458T>A (p.Ile153Asn)
n.252-5293T>A
7g.138739548T>ACA369370195ATP6V0A4c.1564A>T (p.Ile522Phe)
c.790A>T (p.Ile264Phe)
c.457A>T (p.Ile153Phe)
n.252-5294A>T
dbSNP gnomAD v3 gnomAD v4
7g.138739548T>CCA4504732ATP6V0A4c.1564A>G (p.Ile522Val)
c.790A>G (p.Ile264Val)
c.457A>G (p.Ile153Val)
n.252-5294A>G
dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739548T>GCA369370196ATP6V0A4c.1564A>C (p.Ile522Leu)
c.790A>C (p.Ile264Leu)
c.457A>C (p.Ile153Leu)
n.252-5294A>C
7g.138739548T=CA1746780021ATP6V0A4c.1564A= (p.Ile522=)
c.790A= (p.Ile264=)
c.457A= (p.Ile153=)
n.252-5294A=
7g.138739549C>ACA457938025ATP6V0A4c.1563G>T (p.Gly521=)
c.789G>T (p.Gly263=)
c.456G>T (p.Gly152=)
n.252-5295G>T
7g.138739549C>GCA457938026ATP6V0A4c.1563G>C (p.Gly521=)
c.789G>C (p.Gly263=)
c.456G>C (p.Gly152=)
n.252-5295G>C
7g.138739549C>TCA457938027ATP6V0A4c.1563G>A (p.Gly521=)
c.789G>A (p.Gly263=)
c.456G>A (p.Gly152=)
n.252-5295G>A
gnomAD v4
7g.138739550C>ACA369370197ATP6V0A4c.1562G>T (p.Gly521Val)
c.788G>T (p.Gly263Val)
c.455G>T (p.Gly152Val)
n.252-5296G>T
ClinVar gnomAD v4
7g.138739550C=CA1746780023ATP6V0A4c.1562G= (p.Gly521=)
c.788G= (p.Gly263=)
c.455G= (p.Gly152=)
n.252-5296G=
7g.138739550C>GCA369370198ATP6V0A4c.1562G>C (p.Gly521Ala)
c.788G>C (p.Gly263Ala)
c.455G>C (p.Gly152Ala)
n.252-5296G>C
7g.138739550C>TCA167108538ATP6V0A4c.1562G>A (p.Gly521Glu)
c.788G>A (p.Gly263Glu)
c.455G>A (p.Gly152Glu)
n.252-5296G>A
dbSNP
7g.138739550_138739551insAATCCA2715920428ATP6V0A4c.1562_1563insATTG (p.Ile522LeufsTer3)
c.788_789insATTG (p.Ile264LeufsTer3)
c.455_456insATTG (p.Ile153LeufsTer3)
n.252-5296_252-5295insATTG
dbSNP
7g.138739550_138739554delinsCCAAACA1746780022ATP6V0A4c.1558_1562delinsTTTGG (p.Phe520=)
c.784_788delinsTTTGG (p.Phe262=)
c.451_455delinsTTTGG (p.Phe151=)
n.252-5300_252-5296delinsTTTGG
7g.138739551C>ACA369370200ATP6V0A4c.1561G>T (p.Gly521Trp)
c.787G>T (p.Gly263Trp)
c.454G>T (p.Gly152Trp)
n.252-5297G>T
7g.138739551C>GCA369370201ATP6V0A4c.1561G>C (p.Gly521Arg)
c.787G>C (p.Gly263Arg)
c.454G>C (p.Gly152Arg)
n.252-5297G>C
7g.138739551C>TCA369370199ATP6V0A4c.1561G>A (p.Gly521Arg)
c.787G>A (p.Gly263Arg)
c.454G>A (p.Gly152Arg)
n.252-5297G>A
7g.138739551_138739554delinsGTCA2695208557ATP6V0A4c.1558_1561delinsAC (p.Phe520ThrfsTer3)
c.784_787delinsAC (p.Phe262ThrfsTer3)
c.451_454delinsAC (p.Phe151ThrfsTer3)
n.252-5300_252-5297delinsAC
7g.138739552_138739555delCA4504733ATP6V0A4c.1558_1561del (p.Phe520GlyfsTer16)
c.784_787del (p.Phe262GlyfsTer16)
c.451_454del (p.Phe151GlyfsTer16)
n.252-5300_252-5297del
dbSNP ExAC gnomAD v2
7g.138739552A>CCA369370203ATP6V0A4c.1560T>G (p.Phe520Leu)
c.786T>G (p.Phe262Leu)
c.453T>G (p.Phe151Leu)
n.252-5298T>G
7g.138739552A>GCA457938030ATP6V0A4c.1560T>C (p.Phe520=)
c.786T>C (p.Phe262=)
c.453T>C (p.Phe151=)
n.252-5298T>C
7g.138739552A>TCA369370202ATP6V0A4c.1560T>A (p.Phe520Leu)
c.786T>A (p.Phe262Leu)
c.453T>A (p.Phe151Leu)
n.252-5298T>A
7g.138739553A>CCA369370204ATP6V0A4c.1559T>G (p.Phe520Cys)
c.785T>G (p.Phe262Cys)
c.452T>G (p.Phe151Cys)
n.252-5299T>G
7g.138739553A>GCA369370205ATP6V0A4c.1559T>C (p.Phe520Ser)
c.785T>C (p.Phe262Ser)
c.452T>C (p.Phe151Ser)
n.252-5299T>C
7g.138739553A>TCA369370206ATP6V0A4c.1559T>A (p.Phe520Tyr)
c.785T>A (p.Phe262Tyr)
c.452T>A (p.Phe151Tyr)
n.252-5299T>A
7g.138739554A=CA1746780024ATP6V0A4c.1558T= (p.Phe520=)
c.784T= (p.Phe262=)
c.451T= (p.Phe151=)
n.252-5300T=
7g.138739554A>CCA369370207ATP6V0A4c.1558T>G (p.Phe520Val)
c.784T>G (p.Phe262Val)
c.451T>G (p.Phe151Val)
n.252-5300T>G
7g.138739554A>GCA369370208ATP6V0A4c.1558T>C (p.Phe520Leu)
c.784T>C (p.Phe262Leu)
c.451T>C (p.Phe151Leu)
n.252-5300T>C
gnomAD v4
7g.138739554A>TCA369370209ATP6V0A4c.1558T>A (p.Phe520Ile)
c.784T>A (p.Phe262Ile)
c.451T>A (p.Phe151Ile)
n.252-5300T>A
7g.138739554_138739555insGTCA4504734ATP6V0A4c.1557_1558insAC (p.Phe520ThrfsTer18)
c.783_784insAC (p.Phe262ThrfsTer18)
c.450_451insAC (p.Phe151ThrfsTer18)
n.252-5301_252-5300insAC
dbSNP ExAC gnomAD v2
7g.138739555C>ACA4504736ATP6V0A4c.1557G>T (p.Pro519=)
c.783G>T (p.Pro261=)
c.450G>T (p.Pro150=)
n.252-5301G>T
dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739555C=CA1746780025ATP6V0A4c.1557G= (p.Pro519=)
c.783G= (p.Pro261=)
c.450G= (p.Pro150=)
n.252-5301G=
7g.138739555C>GCA457938033ATP6V0A4c.1557G>C (p.Pro519=)
c.783G>C (p.Pro261=)
c.450G>C (p.Pro150=)
n.252-5301G>C
7g.138739555C>TCA4504735ATP6V0A4c.1557G>A (p.Pro519=)
c.783G>A (p.Pro261=)
c.450G>A (p.Pro150=)
n.252-5301G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739556G>ACA4504737ATP6V0A4c.1556C>T (p.Pro519Leu)
c.782C>T (p.Pro261Leu)
c.449C>T (p.Pro150Leu)
n.252-5302C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739556G>CCA369370210ATP6V0A4c.1556C>G (p.Pro519Arg)
c.782C>G (p.Pro261Arg)
c.449C>G (p.Pro150Arg)
n.252-5302C>G
7g.138739556G=CA1746780026ATP6V0A4c.1556C= (p.Pro519=)
c.782C= (p.Pro261=)
c.449C= (p.Pro150=)
n.252-5302C=
7g.138739556G>TCA369370211ATP6V0A4c.1556C>A (p.Pro519Gln)
c.782C>A (p.Pro261Gln)
c.449C>A (p.Pro150Gln)
n.252-5302C>A
7g.138739557G>ACA369370212ATP6V0A4c.1555C>T (p.Pro519Ser)
c.781C>T (p.Pro261Ser)
c.448C>T (p.Pro150Ser)
n.252-5303C>T
7g.138739557G>CCA369370214ATP6V0A4c.1555C>G (p.Pro519Ala)
c.781C>G (p.Pro261Ala)
c.448C>G (p.Pro150Ala)
n.252-5303C>G
7g.138739557G>TCA369370213ATP6V0A4c.1555C>A (p.Pro519Thr)
c.781C>A (p.Pro261Thr)
c.448C>A (p.Pro150Thr)
n.252-5303C>A
7g.138739558G>ACA457938034ATP6V0A4c.1554C>T (p.Tyr518=)
c.780C>T (p.Tyr260=)
c.447C>T (p.Tyr149=)
n.252-5304C>T
7g.138739558G>CCA369370215ATP6V0A4c.1554C>G (p.Tyr518Ter)
c.780C>G (p.Tyr260Ter)
c.447C>G (p.Tyr149Ter)
n.252-5304C>G
7g.138739558G>TCA369370216ATP6V0A4c.1554C>A (p.Tyr518Ter)
c.780C>A (p.Tyr260Ter)
c.447C>A (p.Tyr149Ter)
n.252-5304C>A

Number of alleles fetched