Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138739541G>ACA117295ATP6V0A4c.1571C>T (p.Pro524Leu)
c.797C>T (p.Pro266Leu)
n.464C>T (p.Pro155Leu)
n.252-5287C>T
ClinVar dbSNP ExAC gnomAD
7g.138739541G>CCA369370178ATP6V0A4c.1571C>G (p.Pro524Arg)
c.797C>G (p.Pro266Arg)
n.464C>G (p.Pro155Arg)
n.252-5287C>G
7g.138739541G=CA1746780019ATP6V0A4c.1571C= (p.Pro524=)
c.797C= (p.Pro266=)
n.464C= (p.Pro155=)
n.252-5287C=
7g.138739541G>TCA369370179ATP6V0A4c.1571C>A (p.Pro524Gln)
c.797C>A (p.Pro266Gln)
n.464C>A (p.Pro155Gln)
n.252-5287C>A
7g.138739542G>ACA369370180ATP6V0A4c.1570C>T (p.Pro524Ser)
c.796C>T (p.Pro266Ser)
n.463C>T (p.Pro155Ser)
n.252-5288C>T
7g.138739542G>CCA369370181ATP6V0A4c.1570C>G (p.Pro524Ala)
c.796C>G (p.Pro266Ala)
n.463C>G (p.Pro155Ala)
n.252-5288C>G
7g.138739542G>TCA369370182ATP6V0A4c.1570C>A (p.Pro524Thr)
c.796C>A (p.Pro266Thr)
n.463C>A (p.Pro155Thr)
n.252-5288C>A
7g.138739543A>CCA369370183ATP6V0A4c.1569T>G (p.Asp523Glu)
c.795T>G (p.Asp265Glu)
n.462T>G (p.Asp154Glu)
n.252-5289T>G
7g.138739543A>GCA457938021ATP6V0A4c.1569T>C (p.Asp523=)
c.795T>C (p.Asp265=)
n.462T>C (p.Asp154=)
n.252-5289T>C
7g.138739543A>TCA369370184ATP6V0A4c.1569T>A (p.Asp523Glu)
c.795T>A (p.Asp265Glu)
n.462T>A (p.Asp154Glu)
n.252-5289T>A
7g.138739544T>ACA369370187ATP6V0A4c.1568A>T (p.Asp523Val)
c.794A>T (p.Asp265Val)
n.461A>T (p.Asp154Val)
n.252-5290A>T
7g.138739544T>CCA369370186ATP6V0A4c.1568A>G (p.Asp523Gly)
c.794A>G (p.Asp265Gly)
n.461A>G (p.Asp154Gly)
n.252-5290A>G
7g.138739544T>GCA369370185ATP6V0A4c.1568A>C (p.Asp523Ala)
c.794A>C (p.Asp265Ala)
n.461A>C (p.Asp154Ala)
n.252-5290A>C
7g.138739545C>ACA369370188ATP6V0A4c.1567G>T (p.Asp523Tyr)
c.793G>T (p.Asp265Tyr)
n.460G>T (p.Asp154Tyr)
n.252-5291G>T
7g.138739545C>GCA369370189ATP6V0A4c.1567G>C (p.Asp523His)
c.793G>C (p.Asp265His)
n.460G>C (p.Asp154His)
n.252-5291G>C
7g.138739545C>TCA369370190ATP6V0A4c.1567G>A (p.Asp523Asn)
c.793G>A (p.Asp265Asn)
n.460G>A (p.Asp154Asn)
n.252-5291G>A
7g.138739546A>CCA369370191ATP6V0A4c.1566T>G (p.Ile522Met)
c.792T>G (p.Ile264Met)
n.459T>G (p.Ile153Met)
n.252-5292T>G
7g.138739546A>GCA457938022ATP6V0A4c.1566T>C (p.Ile522=)
c.792T>C (p.Ile264=)
n.459T>C (p.Ile153=)
n.252-5292T>C
7g.138739546A>TCA457938023ATP6V0A4c.1566T>A (p.Ile522=)
c.792T>A (p.Ile264=)
n.459T>A (p.Ile153=)
n.252-5292T>A
7g.138739547A=CA1746780020ATP6V0A4c.1565T= (p.Ile522=)
c.791T= (p.Ile264=)
n.458T= (p.Ile153=)
n.252-5293T=
7g.138739547A>CCA369370192ATP6V0A4c.1565T>G (p.Ile522Ser)
c.791T>G (p.Ile264Ser)
n.458T>G (p.Ile153Ser)
n.252-5293T>G
7g.138739547A>GCA369370193ATP6V0A4c.1565T>C (p.Ile522Thr)
c.791T>C (p.Ile264Thr)
n.458T>C (p.Ile153Thr)
n.252-5293T>C
7g.138739547A>TCA369370194ATP6V0A4c.1565T>A (p.Ile522Asn)
c.791T>A (p.Ile264Asn)
n.458T>A (p.Ile153Asn)
n.252-5293T>A
7g.138739548T>ACA369370195ATP6V0A4c.1564A>T (p.Ile522Phe)
c.790A>T (p.Ile264Phe)
n.457A>T (p.Ile153Phe)
n.252-5294A>T
7g.138739548T>CCA4504732ATP6V0A4c.1564A>G (p.Ile522Val)
c.790A>G (p.Ile264Val)
n.457A>G (p.Ile153Val)
n.252-5294A>G
dbSNP ExAC gnomAD
7g.138739548T>GCA369370196ATP6V0A4c.1564A>C (p.Ile522Leu)
c.790A>C (p.Ile264Leu)
n.457A>C (p.Ile153Leu)
n.252-5294A>C
7g.138739548T=CA1746780021ATP6V0A4c.1564A= (p.Ile522=)
c.790A= (p.Ile264=)
n.457A= (p.Ile153=)
n.252-5294A=
7g.138739549C>ACA457938025ATP6V0A4c.1563G>T (p.Gly521=)
c.789G>T (p.Gly263=)
n.456G>T (p.Gly152=)
n.252-5295G>T
7g.138739549C>GCA457938026ATP6V0A4c.1563G>C (p.Gly521=)
c.789G>C (p.Gly263=)
n.456G>C (p.Gly152=)
n.252-5295G>C
7g.138739549C>TCA457938027ATP6V0A4c.1563G>A (p.Gly521=)
c.789G>A (p.Gly263=)
n.456G>A (p.Gly152=)
n.252-5295G>A
7g.138739550C>ACA369370197ATP6V0A4c.1562G>T (p.Gly521Val)
c.788G>T (p.Gly263Val)
n.455G>T (p.Gly152Val)
n.252-5296G>T
7g.138739550C=CA1746780023ATP6V0A4c.1562G= (p.Gly521=)
c.788G= (p.Gly263=)
n.455G= (p.Gly152=)
n.252-5296G=
7g.138739550C>GCA369370198ATP6V0A4c.1562G>C (p.Gly521Ala)
c.788G>C (p.Gly263Ala)
n.455G>C (p.Gly152Ala)
n.252-5296G>C
7g.138739550C>TCA167108538ATP6V0A4c.1562G>A (p.Gly521Glu)
c.788G>A (p.Gly263Glu)
n.455G>A (p.Gly152Glu)
n.252-5296G>A
dbSNP
7g.138739550_138739554delinsCCAAACA1746780022ATP6V0A4c.1558_1562delinsTTTGG (p.Phe520=)
c.784_788delinsTTTGG (p.Phe262=)
n.451_455delinsTTTGG (p.Phe151=)
n.252-5300_252-5296delinsTTTGG
7g.138739551C>ACA369370200ATP6V0A4c.1561G>T (p.Gly521Trp)
c.787G>T (p.Gly263Trp)
n.454G>T (p.Gly152Trp)
n.252-5297G>T
7g.138739551C>GCA369370201ATP6V0A4c.1561G>C (p.Gly521Arg)
c.787G>C (p.Gly263Arg)
n.454G>C (p.Gly152Arg)
n.252-5297G>C
7g.138739551C>TCA369370199ATP6V0A4c.1561G>A (p.Gly521Arg)
c.787G>A (p.Gly263Arg)
n.454G>A (p.Gly152Arg)
n.252-5297G>A
7g.138739552_138739555delCA4504733ATP6V0A4c.1558_1561del (p.Phe520GlyfsTer16)
c.784_787del (p.Phe262GlyfsTer16)
n.451_454del (p.Phe151GlyfsTer16)
n.252-5300_252-5297del
dbSNP ExAC gnomAD
7g.138739552A>CCA369370203ATP6V0A4c.1560T>G (p.Phe520Leu)
c.786T>G (p.Phe262Leu)
n.453T>G (p.Phe151Leu)
n.252-5298T>G
7g.138739552A>GCA457938030ATP6V0A4c.1560T>C (p.Phe520=)
c.786T>C (p.Phe262=)
n.453T>C (p.Phe151=)
n.252-5298T>C
7g.138739552A>TCA369370202ATP6V0A4c.1560T>A (p.Phe520Leu)
c.786T>A (p.Phe262Leu)
n.453T>A (p.Phe151Leu)
n.252-5298T>A
7g.138739553A>CCA369370204ATP6V0A4c.1559T>G (p.Phe520Cys)
c.785T>G (p.Phe262Cys)
n.452T>G (p.Phe151Cys)
n.252-5299T>G
7g.138739553A>GCA369370205ATP6V0A4c.1559T>C (p.Phe520Ser)
c.785T>C (p.Phe262Ser)
n.452T>C (p.Phe151Ser)
n.252-5299T>C
7g.138739553A>TCA369370206ATP6V0A4c.1559T>A (p.Phe520Tyr)
c.785T>A (p.Phe262Tyr)
n.452T>A (p.Phe151Tyr)
n.252-5299T>A
7g.138739554A=CA1746780024ATP6V0A4c.1558T= (p.Phe520=)
c.784T= (p.Phe262=)
n.451T= (p.Phe151=)
n.252-5300T=
7g.138739554A>CCA369370207ATP6V0A4c.1558T>G (p.Phe520Val)
c.784T>G (p.Phe262Val)
n.451T>G (p.Phe151Val)
n.252-5300T>G
7g.138739554A>GCA369370208ATP6V0A4c.1558T>C (p.Phe520Leu)
c.784T>C (p.Phe262Leu)
n.451T>C (p.Phe151Leu)
n.252-5300T>C
7g.138739554A>TCA369370209ATP6V0A4c.1558T>A (p.Phe520Ile)
c.784T>A (p.Phe262Ile)
n.451T>A (p.Phe151Ile)
n.252-5300T>A
7g.138739554_138739555insGTCA4504734ATP6V0A4c.1557_1558insAC (p.Phe520ThrfsTer18)
c.783_784insAC (p.Phe262ThrfsTer18)
n.450_451insAC (p.Phe151ThrfsTer18)
n.252-5301_252-5300insAC
dbSNP ExAC gnomAD

Number of alleles fetched