Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138739530A=CA1746780011ATP6V0A4c.1572+10T= (n.1572+10T=)
c.798+10T= (n.798+10T=)
c.465+10T= (n.465+10T=)
n.252-5276T=
7g.138739530A>TCA1746780012ATP6V0A4c.1572+10T>A (n.1572+10T>A)
c.798+10T>A (n.798+10T>A)
c.465+10T>A (n.465+10T>A)
n.252-5276T>A
 dbSNP gnomAD v4
7g.138739531C=CA1746780013ATP6V0A4c.1572+9G= (n.1572+9G=)
c.798+9G= (n.798+9G=)
c.465+9G= (n.465+9G=)
n.252-5277G=
7g.138739531C>TCA4504729ATP6V0A4c.1572+9G>A (n.1572+9G>A)
c.798+9G>A (n.798+9G>A)
c.465+9G>A (n.465+9G>A)
n.252-5277G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739531_138739534delinsCATTCA1746780014ATP6V0A4c.1572+6_1572+9delinsAATG (n.1572+6_1572+9delinsAATG)
c.798+6_798+9delinsAATG (n.798+6_798+9delinsAATG)
c.465+6_465+9delinsAATG (n.465+6_465+9delinsAATG)
n.252-5280_252-5277delinsAATG
7g.138739532A=CA1746780015ATP6V0A4c.1572+8T= (n.1572+8T=)
c.798+8T= (n.798+8T=)
c.465+8T= (n.465+8T=)
n.252-5278T=
7g.138739532A>GCA578200911ATP6V0A4c.1572+8T>C (n.1572+8T>C)
c.798+8T>C (n.798+8T>C)
c.465+8T>C (n.465+8T>C)
n.252-5278T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138739536_138739538delCA578200902ATP6V0A4c.1572+6_1572+8del (n.1572+6_1572+8del)
c.798+6_798+8del (n.798+6_798+8del)
c.465+6_465+8del (n.465+6_465+8del)
n.252-5280_252-5278del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138739534T>CCA2685127873ATP6V0A4c.1572+6A>G (n.1572+6A>G)
c.798+6A>G (n.798+6A>G)
c.465+6A>G (n.465+6A>G)
n.252-5280A>G
 gnomAD v4
7g.138739534T>GCA2685127871ATP6V0A4c.1572+6A>C (n.1572+6A>C)
c.798+6A>C (n.798+6A>C)
c.465+6A>C (n.465+6A>C)
n.252-5280A>C
 gnomAD v4
7g.138739536T>CCA2685127874ATP6V0A4c.1572+4A>G (n.1572+4A>G)
c.798+4A>G (n.798+4A>G)
c.465+4A>G (n.465+4A>G)
n.252-5282A>G
 gnomAD v4
7g.138739538A=CA1746780016ATP6V0A4c.1572+2T= (n.1572+2T=)
c.798+2T= (n.798+2T=)
c.465+2T= (n.465+2T=)
n.252-5284T=
7g.138739538A>CCA369370174ATP6V0A4c.1572+2T>G (n.1572+2T>G)
c.798+2T>G (n.798+2T>G)
c.465+2T>G (n.465+2T>G)
n.252-5284T>G
7g.138739538A>GCA4504730ATP6V0A4c.1572+2T>C (n.1572+2T>C)
c.798+2T>C (n.798+2T>C)
c.465+2T>C (n.465+2T>C)
n.252-5284T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739538A>TCA369370173ATP6V0A4c.1572+2T>A (n.1572+2T>A)
c.798+2T>A (n.798+2T>A)
c.465+2T>A (n.465+2T>A)
n.252-5284T>A
7g.138739539C>ACA369370177ATP6V0A4c.1572+1G>T (n.1572+1G>T)
c.798+1G>T (n.798+1G>T)
c.465+1G>T (n.465+1G>T)
n.252-5285G>T
7g.138739539C=CA1746780017ATP6V0A4c.1572+1G= (n.1572+1G=)
c.798+1G= (n.798+1G=)
c.465+1G= (n.465+1G=)
n.252-5285G=
7g.138739539C>GCA369370175ATP6V0A4c.1572+1G>C (n.1572+1G>C)
c.798+1G>C (n.798+1G>C)
c.465+1G>C (n.465+1G>C)
n.252-5285G>C
 dbSNP gnomAD v2 gnomAD v4
7g.138739539C>TCA369370176ATP6V0A4c.1572+1G>A (n.1572+1G>A)
c.798+1G>A (n.798+1G>A)
c.465+1G>A (n.465+1G>A)
n.252-5285G>A
 dbSNP
7g.138739540C>ACA457938019ATP6V0A4c.1572G>T (p.Pro524=)
c.798G>T (p.Pro266=)
c.465G>T (p.Pro155=)
n.252-5286G>T
7g.138739540C=CA1746780018ATP6V0A4c.1572G= (p.Pro524=)
c.798G= (p.Pro266=)
c.465G= (p.Pro155=)
n.252-5286G=
7g.138739540C>GCA457938020ATP6V0A4c.1572G>C (p.Pro524=)
c.798G>C (p.Pro266=)
c.465G>C (p.Pro155=)
n.252-5286G>C
7g.138739540C>TCA4504731ATP6V0A4c.1572G>A (p.Pro524=)
c.798G>A (p.Pro266=)
c.465G>A (p.Pro155=)
n.252-5286G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.138739541G>ACA117295ATP6V0A4c.1571C>T (p.Pro524Leu)
c.797C>T (p.Pro266Leu)
c.464C>T (p.Pro155Leu)
n.252-5287C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739541G>CCA369370178ATP6V0A4c.1571C>G (p.Pro524Arg)
c.797C>G (p.Pro266Arg)
c.464C>G (p.Pro155Arg)
n.252-5287C>G
7g.138739541G=CA1746780019ATP6V0A4c.1571C= (p.Pro524=)
c.797C= (p.Pro266=)
c.464C= (p.Pro155=)
n.252-5287C=
7g.138739541G>TCA369370179ATP6V0A4c.1571C>A (p.Pro524Gln)
c.797C>A (p.Pro266Gln)
c.464C>A (p.Pro155Gln)
n.252-5287C>A
7g.138739542delCA2685127879ATP6V0A4c.1571del (p.Pro524ArgfsTer13)
c.797del (p.Pro266ArgfsTer13)
c.464del (p.Pro155ArgfsTer13)
n.252-5287del
 gnomAD v4
7g.138739542G>ACA369370180ATP6V0A4c.1570C>T (p.Pro524Ser)
c.796C>T (p.Pro266Ser)
c.463C>T (p.Pro155Ser)
n.252-5288C>T
7g.138739542G>CCA369370181ATP6V0A4c.1570C>G (p.Pro524Ala)
c.796C>G (p.Pro266Ala)
c.463C>G (p.Pro155Ala)
n.252-5288C>G
7g.138739542G>TCA369370182ATP6V0A4c.1570C>A (p.Pro524Thr)
c.796C>A (p.Pro266Thr)
c.463C>A (p.Pro155Thr)
n.252-5288C>A
7g.138739543A>CCA369370183ATP6V0A4c.1569T>G (p.Asp523Glu)
c.795T>G (p.Asp265Glu)
c.462T>G (p.Asp154Glu)
n.252-5289T>G
7g.138739543A>GCA457938021ATP6V0A4c.1569T>C (p.Asp523=)
c.795T>C (p.Asp265=)
c.462T>C (p.Asp154=)
n.252-5289T>C
7g.138739543A>TCA369370184ATP6V0A4c.1569T>A (p.Asp523Glu)
c.795T>A (p.Asp265Glu)
c.462T>A (p.Asp154Glu)
n.252-5289T>A
7g.138739544T>ACA369370187ATP6V0A4c.1568A>T (p.Asp523Val)
c.794A>T (p.Asp265Val)
c.461A>T (p.Asp154Val)
n.252-5290A>T
7g.138739544T>CCA369370186ATP6V0A4c.1568A>G (p.Asp523Gly)
c.794A>G (p.Asp265Gly)
c.461A>G (p.Asp154Gly)
n.252-5290A>G
7g.138739544T>GCA369370185ATP6V0A4c.1568A>C (p.Asp523Ala)
c.794A>C (p.Asp265Ala)
c.461A>C (p.Asp154Ala)
n.252-5290A>C
7g.138739545C>ACA369370188ATP6V0A4c.1567G>T (p.Asp523Tyr)
c.793G>T (p.Asp265Tyr)
c.460G>T (p.Asp154Tyr)
n.252-5291G>T
7g.138739545C>GCA369370189ATP6V0A4c.1567G>C (p.Asp523His)
c.793G>C (p.Asp265His)
c.460G>C (p.Asp154His)
n.252-5291G>C
7g.138739545C>TCA369370190ATP6V0A4c.1567G>A (p.Asp523Asn)
c.793G>A (p.Asp265Asn)
c.460G>A (p.Asp154Asn)
n.252-5291G>A
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
7g.138739559T>ACA369370217ATP6V0A4c.1553A>T (p.Tyr518Phe)
c.779A>T (p.Tyr260Phe)
c.446A>T (p.Tyr149Phe)
n.252-5305A>T
7g.138739559T>CCA4504738ATP6V0A4c.1553A>G (p.Tyr518Cys)
c.779A>G (p.Tyr260Cys)
c.446A>G (p.Tyr149Cys)
n.252-5305A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739559T>GCA369370218ATP6V0A4c.1553A>C (p.Tyr518Ser)
c.779A>C (p.Tyr260Ser)
c.446A>C (p.Tyr149Ser)
n.252-5305A>C
7g.138739559T=CA1746780027ATP6V0A4c.1553A= (p.Tyr518=)
c.779A= (p.Tyr260=)
c.446A= (p.Tyr149=)
n.252-5305A=
7g.138739560A>CCA369370219ATP6V0A4c.1552T>G (p.Tyr518Asp)
c.778T>G (p.Tyr260Asp)
c.445T>G (p.Tyr149Asp)
n.252-5306T>G
7g.138739560A>GCA369370220ATP6V0A4c.1552T>C (p.Tyr518His)
c.778T>C (p.Tyr260His)
c.445T>C (p.Tyr149His)
n.252-5306T>C
7g.138739560A>TCA369370221ATP6V0A4c.1552T>A (p.Tyr518Asn)
c.778T>A (p.Tyr260Asn)
c.445T>A (p.Tyr149Asn)
n.252-5306T>A
7g.138739561T>ACA457938035ATP6V0A4c.1551A>T (p.Pro517=)
c.777A>T (p.Pro259=)
c.444A>T (p.Pro148=)
n.252-5307A>T
7g.138739561T>CCA457938036ATP6V0A4c.1551A>G (p.Pro517=)
c.777A>G (p.Pro259=)
c.444A>G (p.Pro148=)
n.252-5307A>G
 dbSNP gnomAD v4
7g.138739561T>GCA457938037ATP6V0A4c.1551A>C (p.Pro517=)
c.777A>C (p.Pro259=)
c.444A>C (p.Pro148=)
n.252-5307A>C
7g.138739561T=CA1746780028ATP6V0A4c.1551A= (p.Pro517=)
c.777A= (p.Pro259=)
c.444A= (p.Pro148=)
n.252-5307A=
7g.138739562G>ACA369370222ATP6V0A4c.1550C>T (p.Pro517Leu)
c.776C>T (p.Pro259Leu)
c.443C>T (p.Pro148Leu)
n.252-5308C>T
7g.138739562G>CCA369370223ATP6V0A4c.1550C>G (p.Pro517Arg)
c.776C>G (p.Pro259Arg)
c.443C>G (p.Pro148Arg)
n.252-5308C>G
7g.138739562G>TCA369370224ATP6V0A4c.1550C>A (p.Pro517Gln)
c.776C>A (p.Pro259Gln)
c.443C>A (p.Pro148Gln)
n.252-5308C>A
7g.138739563G>ACA369370226ATP6V0A4c.1549C>T (p.Pro517Ser)
c.775C>T (p.Pro259Ser)
c.442C>T (p.Pro148Ser)
n.252-5309C>T
 gnomAD v4
7g.138739563G>CCA369370227ATP6V0A4c.1549C>G (p.Pro517Ala)
c.775C>G (p.Pro259Ala)
c.442C>G (p.Pro148Ala)
n.252-5309C>G
7g.138739563G>TCA369370225ATP6V0A4c.1549C>A (p.Pro517Thr)
c.775C>A (p.Pro259Thr)
c.442C>A (p.Pro148Thr)
n.252-5309C>A
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
7g.138739579T>ACA457938049ATP6V0A4c.1533A>T (p.Gly511=)
c.759A>T (p.Gly253=)
c.426A>T (p.Gly142=)
n.252-5325A>T
7g.138739579T>CCA457938047ATP6V0A4c.1533A>G (p.Gly511=)
c.759A>G (p.Gly253=)
c.426A>G (p.Gly142=)
n.252-5325A>G
7g.138739579T>GCA457938048ATP6V0A4c.1533A>C (p.Gly511=)
c.759A>C (p.Gly253=)
c.426A>C (p.Gly142=)
n.252-5325A>C
7g.138739580C>ACA369370263ATP6V0A4c.1532G>T (p.Gly511Val)
c.758G>T (p.Gly253Val)
c.425G>T (p.Gly142Val)
n.252-5326G>T
7g.138739580C>GCA369370264ATP6V0A4c.1532G>C (p.Gly511Ala)
c.758G>C (p.Gly253Ala)
c.425G>C (p.Gly142Ala)
n.252-5326G>C
7g.138739580C>TCA369370265ATP6V0A4c.1532G>A (p.Gly511Glu)
c.758G>A (p.Gly253Glu)
c.425G>A (p.Gly142Glu)
n.252-5326G>A
7g.138739581delCA2685127909ATP6V0A4c.1532del (p.Gly511GlufsTer26)
c.758del (p.Gly253GlufsTer26)
c.425del (p.Gly142GlufsTer26)
n.252-5326del
 gnomAD v4
7g.138739581C>ACA369370266ATP6V0A4c.1531G>T (p.Gly511Ter)
c.757G>T (p.Gly253Ter)
c.424G>T (p.Gly142Ter)
n.252-5327G>T
 gnomAD v4
7g.138739581C>GCA369370267ATP6V0A4c.1531G>C (p.Gly511Arg)
c.757G>C (p.Gly253Arg)
c.424G>C (p.Gly142Arg)
n.252-5327G>C
7g.138739581C>TCA369370268ATP6V0A4c.1531G>A (p.Gly511Arg)
c.757G>A (p.Gly253Arg)
c.424G>A (p.Gly142Arg)
n.252-5327G>A
7g.138739582delCA2685127912ATP6V0A4c.1530del (p.Gly511GlufsTer26)
c.756del (p.Gly253GlufsTer26)
c.423del (p.Gly142GlufsTer26)
n.252-5328del
 gnomAD v4
7g.138739582T>ACA457938050ATP6V0A4c.1530A>T (p.Pro510=)
c.756A>T (p.Pro252=)
c.423A>T (p.Pro141=)
n.252-5328A>T
7g.138739582T>CCA457938051ATP6V0A4c.1530A>G (p.Pro510=)
c.756A>G (p.Pro252=)
c.423A>G (p.Pro141=)
n.252-5328A>G
7g.138739582T>GCA457938052ATP6V0A4c.1530A>C (p.Pro510=)
c.756A>C (p.Pro252=)
c.423A>C (p.Pro141=)
n.252-5328A>C
7g.138739582dupCA2685127910ATP6V0A4c.1530dup (p.Gly511ArgfsTer13)
c.756dup (p.Gly253ArgfsTer13)
c.423dup (p.Gly142ArgfsTer13)
n.252-5328dup
 gnomAD v4
7g.138739583G>ACA369370269ATP6V0A4c.1529C>T (p.Pro510Leu)
c.755C>T (p.Pro252Leu)
c.422C>T (p.Pro141Leu)
n.252-5329C>T
7g.138739583G>CCA369370270ATP6V0A4c.1529C>G (p.Pro510Arg)
c.755C>G (p.Pro252Arg)
c.422C>G (p.Pro141Arg)
n.252-5329C>G
7g.138739583G>TCA369370271ATP6V0A4c.1529C>A (p.Pro510Gln)
c.755C>A (p.Pro252Gln)
c.422C>A (p.Pro141Gln)
n.252-5329C>A
7g.138739584G>ACA369370272ATP6V0A4c.1528C>T (p.Pro510Ser)
c.754C>T (p.Pro252Ser)
c.421C>T (p.Pro141Ser)
n.252-5330C>T
7g.138739584G>CCA369370273ATP6V0A4c.1528C>G (p.Pro510Ala)
c.754C>G (p.Pro252Ala)
c.421C>G (p.Pro141Ala)
n.252-5330C>G
7g.138739584G=CA1746780034ATP6V0A4c.1528C= (p.Pro510=)
c.754C= (p.Pro252=)
c.421C= (p.Pro141=)
n.252-5330C=
7g.138739584G>TCA4504742ATP6V0A4c.1528C>A (p.Pro510Thr)
c.754C>A (p.Pro252Thr)
c.421C>A (p.Pro141Thr)
n.252-5330C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739585T>ACA457938053ATP6V0A4c.1527A>T (p.Ile509=)
c.753A>T (p.Ile251=)
c.420A>T (p.Ile140=)
n.252-5331A>T
7g.138739585T>CCA369370274ATP6V0A4c.1527A>G (p.Ile509Met)
c.753A>G (p.Ile251Met)
c.420A>G (p.Ile140Met)
n.252-5331A>G
7g.138739585T>GCA457938054ATP6V0A4c.1527A>C (p.Ile509=)
c.753A>C (p.Ile251=)
c.420A>C (p.Ile140=)
n.252-5331A>C
7g.138739586A>CCA369370275ATP6V0A4c.1526T>G (p.Ile509Arg)
c.752T>G (p.Ile251Arg)
c.419T>G (p.Ile140Arg)
n.252-5332T>G
7g.138739586A>GCA369370276ATP6V0A4c.1526T>C (p.Ile509Thr)
c.752T>C (p.Ile251Thr)
c.419T>C (p.Ile140Thr)
n.252-5332T>C
7g.138739586A>TCA369370277ATP6V0A4c.1526T>A (p.Ile509Lys)
c.752T>A (p.Ile251Lys)
c.419T>A (p.Ile140Lys)
n.252-5332T>A
7g.138739587T>ACA369370278ATP6V0A4c.1525A>T (p.Ile509Leu)
c.751A>T (p.Ile251Leu)
c.418A>T (p.Ile140Leu)
n.252-5333A>T
7g.138739587T>CCA369370279ATP6V0A4c.1525A>G (p.Ile509Val)
c.751A>G (p.Ile251Val)
c.418A>G (p.Ile140Val)
n.252-5333A>G
7g.138739587T>GCA369370280ATP6V0A4c.1525A>C (p.Ile509Leu)
c.751A>C (p.Ile251Leu)
c.418A>C (p.Ile140Leu)
n.252-5333A>C
7g.138739588G>ACA457938055ATP6V0A4c.1524C>T (p.Ala508=)
c.750C>T (p.Ala250=)
c.417C>T (p.Ala139=)
n.252-5334C>T
7g.138739588G>CCA457938056ATP6V0A4c.1524C>G (p.Ala508=)
c.750C>G (p.Ala250=)
c.417C>G (p.Ala139=)
n.252-5334C>G
7g.138739588G>TCA457938057ATP6V0A4c.1524C>A (p.Ala508=)
c.750C>A (p.Ala250=)
c.417C>A (p.Ala139=)
n.252-5334C>A
 gnomAD v4
7g.138739589G>ACA369370281ATP6V0A4c.1523C>T (p.Ala508Val)
c.749C>T (p.Ala250Val)
c.416C>T (p.Ala139Val)
n.252-5335C>T
7g.138739589G>CCA369370282ATP6V0A4c.1523C>G (p.Ala508Gly)
c.749C>G (p.Ala250Gly)
c.416C>G (p.Ala139Gly)
n.252-5335C>G
7g.138739589G>TCA369370283ATP6V0A4c.1523C>A (p.Ala508Asp)
c.749C>A (p.Ala250Asp)
c.416C>A (p.Ala139Asp)
n.252-5335C>A
7g.138739590C>ACA369370284ATP6V0A4c.1522G>T (p.Ala508Ser)
c.748G>T (p.Ala250Ser)
c.415G>T (p.Ala139Ser)
n.252-5336G>T
 dbSNP gnomAD v2 gnomAD v4
7g.138739590C=CA1746780035ATP6V0A4c.1522G= (p.Ala508=)
c.748G= (p.Ala250=)
c.415G= (p.Ala139=)
n.252-5336G=
7g.138739590C>GCA369370285ATP6V0A4c.1522G>C (p.Ala508Pro)
c.748G>C (p.Ala250Pro)
c.415G>C (p.Ala139Pro)
n.252-5336G>C
7g.138739590C>TCA369370286ATP6V0A4c.1522G>A (p.Ala508Thr)
c.748G>A (p.Ala250Thr)
c.415G>A (p.Ala139Thr)
n.252-5336G>A
7g.138739591T>ACA457938058ATP6V0A4c.1521A>T (p.Pro507=)
c.747A>T (p.Pro249=)
c.414A>T (p.Pro138=)
n.252-5337A>T
7g.138739591T>CCA4504743ATP6V0A4c.1521A>G (p.Pro507=)
c.747A>G (p.Pro249=)
c.414A>G (p.Pro138=)
n.252-5337A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739591T>GCA457938059ATP6V0A4c.1521A>C (p.Pro507=)
c.747A>C (p.Pro249=)
c.414A>C (p.Pro138=)
n.252-5337A>C
7g.138739591T=CA1746780036ATP6V0A4c.1521A= (p.Pro507=)
c.747A= (p.Pro249=)
c.414A= (p.Pro138=)
n.252-5337A=
7g.138739592G>ACA369370287ATP6V0A4c.1520C>T (p.Pro507Leu)
c.746C>T (p.Pro249Leu)
c.413C>T (p.Pro138Leu)
n.252-5338C>T
7g.138739592G>CCA369370289ATP6V0A4c.1520C>G (p.Pro507Arg)
c.746C>G (p.Pro249Arg)
c.413C>G (p.Pro138Arg)
n.252-5338C>G
7g.138739592G>TCA369370288ATP6V0A4c.1520C>A (p.Pro507Gln)
c.746C>A (p.Pro249Gln)
c.413C>A (p.Pro138Gln)
n.252-5338C>A
7g.138739593G>ACA369370290ATP6V0A4c.1519C>T (p.Pro507Ser)
c.745C>T (p.Pro249Ser)
c.412C>T (p.Pro138Ser)
n.252-5339C>T
 gnomAD v4
7g.138739593G>CCA369370291ATP6V0A4c.1519C>G (p.Pro507Ala)
c.745C>G (p.Pro249Ala)
c.412C>G (p.Pro138Ala)
n.252-5339C>G
7g.138739593G>TCA369370292ATP6V0A4c.1519C>A (p.Pro507Thr)
c.745C>A (p.Pro249Thr)
c.412C>A (p.Pro138Thr)
n.252-5339C>A
 gnomAD v4
7g.138739594G>ACA457938060ATP6V0A4c.1518C>T (p.Asp506=)
c.744C>T (p.Asp248=)
c.411C>T (p.Asp137=)
n.252-5340C>T
 gnomAD v4
7g.138739594G>CCA369370293ATP6V0A4c.1518C>G (p.Asp506Glu)
c.744C>G (p.Asp248Glu)
c.411C>G (p.Asp137Glu)
n.252-5340C>G
7g.138739594G>TCA369370294ATP6V0A4c.1518C>A (p.Asp506Glu)
c.744C>A (p.Asp248Glu)
c.411C>A (p.Asp137Glu)
n.252-5340C>A
7g.138739595T>ACA369370295ATP6V0A4c.1517A>T (p.Asp506Val)
c.743A>T (p.Asp248Val)
c.410A>T (p.Asp137Val)
n.252-5341A>T
 gnomAD v4
7g.138739595T>CCA369370296ATP6V0A4c.1517A>G (p.Asp506Gly)
c.743A>G (p.Asp248Gly)
c.410A>G (p.Asp137Gly)
n.252-5341A>G
7g.138739595T>GCA369370297ATP6V0A4c.1517A>C (p.Asp506Ala)
c.743A>C (p.Asp248Ala)
c.410A>C (p.Asp137Ala)
n.252-5341A>C
 dbSNP
7g.138739595T=CA1746780037ATP6V0A4c.1517A= (p.Asp506=)
c.743A= (p.Asp248=)
c.410A= (p.Asp137=)
n.252-5341A=
7g.138739596C>ACA369370298ATP6V0A4c.1516G>T (p.Asp506Tyr)
c.742G>T (p.Asp248Tyr)
c.409G>T (p.Asp137Tyr)
n.252-5342G>T
7g.138739596C>GCA369370299ATP6V0A4c.1516G>C (p.Asp506His)
c.742G>C (p.Asp248His)
c.409G>C (p.Asp137His)
n.252-5342G>C
 gnomAD v4
7g.138739596C>TCA369370300ATP6V0A4c.1516G>A (p.Asp506Asn)
c.742G>A (p.Asp248Asn)
c.409G>A (p.Asp137Asn)
n.252-5342G>A
7g.138739597C>ACA457938062ATP6V0A4c.1515G>T (p.Leu505=)
c.741G>T (p.Leu247=)
c.408G>T (p.Leu136=)
n.252-5343G>T
7g.138739597C=CA1746780038ATP6V0A4c.1515G= (p.Leu505=)
c.741G= (p.Leu247=)
c.408G= (p.Leu136=)
n.252-5343G=
7g.138739597C>GCA457938063ATP6V0A4c.1515G>C (p.Leu505=)
c.741G>C (p.Leu247=)
c.408G>C (p.Leu136=)
n.252-5343G>C
 dbSNP
7g.138739597C>TCA457938064ATP6V0A4c.1515G>A (p.Leu505=)
c.741G>A (p.Leu247=)
c.408G>A (p.Leu136=)
n.252-5343G>A
7g.138739598A>CCA369370303ATP6V0A4c.1514T>G (p.Leu505Arg)
c.740T>G (p.Leu247Arg)
c.407T>G (p.Leu136Arg)
n.252-5344T>G
7g.138739598A>GCA369370302ATP6V0A4c.1514T>C (p.Leu505Pro)
c.740T>C (p.Leu247Pro)
c.407T>C (p.Leu136Pro)
n.252-5344T>C
7g.138739598A>TCA369370301ATP6V0A4c.1514T>A (p.Leu505Gln)
c.740T>A (p.Leu247Gln)
c.407T>A (p.Leu136Gln)
n.252-5344T>A
7g.138739599G>ACA457938065ATP6V0A4c.1513C>T (p.Leu505=)
c.739C>T (p.Leu247=)
c.406C>T (p.Leu136=)
n.252-5345C>T
 gnomAD v4
7g.138739599G>CCA369370304ATP6V0A4c.1513C>G (p.Leu505Val)
c.739C>G (p.Leu247Val)
c.406C>G (p.Leu136Val)
n.252-5345C>G
 gnomAD v4
7g.138739599G>TCA369370305ATP6V0A4c.1513C>A (p.Leu505Met)
c.739C>A (p.Leu247Met)
c.406C>A (p.Leu136Met)
n.252-5345C>A
7g.138739600C>ACA369370306ATP6V0A4c.1512G>T (p.Gln504His)
c.738G>T (p.Gln246His)
c.405G>T (p.Gln135His)
n.252-5346G>T
7g.138739600C>GCA369370307ATP6V0A4c.1512G>C (p.Gln504His)
c.738G>C (p.Gln246His)
c.405G>C (p.Gln135His)
n.252-5346G>C
7g.138739600C>TCA457938066ATP6V0A4c.1512G>A (p.Gln504=)
c.738G>A (p.Gln246=)
c.405G>A (p.Gln135=)
n.252-5346G>A
7g.138739601T>ACA369370308ATP6V0A4c.1511A>T (p.Gln504Leu)
c.737A>T (p.Gln246Leu)
c.404A>T (p.Gln135Leu)
n.252-5347A>T
7g.138739601T>CCA369370309ATP6V0A4c.1511A>G (p.Gln504Arg)
c.737A>G (p.Gln246Arg)
c.404A>G (p.Gln135Arg)
n.252-5347A>G
7g.138739601T>GCA369370310ATP6V0A4c.1511A>C (p.Gln504Pro)
c.737A>C (p.Gln246Pro)
c.404A>C (p.Gln135Pro)
n.252-5347A>C
7g.138739602G>ACA369370311ATP6V0A4c.1510C>T (p.Gln504Ter)
c.736C>T (p.Gln246Ter)
c.403C>T (p.Gln135Ter)
n.252-5348C>T
 ClinVar
7g.138739602G>CCA369370312ATP6V0A4c.1510C>G (p.Gln504Glu)
c.736C>G (p.Gln246Glu)
c.403C>G (p.Gln135Glu)
n.252-5348C>G
7g.138739602G>TCA369370313ATP6V0A4c.1510C>A (p.Gln504Lys)
c.736C>A (p.Gln246Lys)
c.403C>A (p.Gln135Lys)
n.252-5348C>A
7g.138739603C>ACA457938069ATP6V0A4c.1509G>T (p.Leu503=)
c.735G>T (p.Leu245=)
c.402G>T (p.Leu134=)
n.252-5349G>T
7g.138739603C=CA1746780039ATP6V0A4c.1509G= (p.Leu503=)
c.735G= (p.Leu245=)
c.402G= (p.Leu134=)
n.252-5349G=
7g.138739603C>GCA457938068ATP6V0A4c.1509G>C (p.Leu503=)
c.735G>C (p.Leu245=)
c.402G>C (p.Leu134=)
n.252-5349G>C
7g.138739603C>TCA457938067ATP6V0A4c.1509G>A (p.Leu503=)
c.735G>A (p.Leu245=)
c.402G>A (p.Leu134=)
n.252-5349G>A
 dbSNP gnomAD v4
7g.138739604A>CCA369370314ATP6V0A4c.1508T>G (p.Leu503Arg)
c.734T>G (p.Leu245Arg)
c.401T>G (p.Leu134Arg)
n.252-5350T>G
7g.138739604A>GCA369370315ATP6V0A4c.1508T>C (p.Leu503Pro)
c.734T>C (p.Leu245Pro)
c.401T>C (p.Leu134Pro)
n.252-5350T>C
7g.138739604A>TCA369370316ATP6V0A4c.1508T>A (p.Leu503Gln)
c.734T>A (p.Leu245Gln)
c.401T>A (p.Leu134Gln)
n.252-5350T>A
7g.138739605G>ACA457938070ATP6V0A4c.1507C>T (p.Leu503=)
c.733C>T (p.Leu245=)
c.400C>T (p.Leu134=)
n.252-5351C>T
7g.138739605G>CCA369370318ATP6V0A4c.1507C>G (p.Leu503Val)
c.733C>G (p.Leu245Val)
c.400C>G (p.Leu134Val)
n.252-5351C>G
7g.138739605G>TCA369370317ATP6V0A4c.1507C>A (p.Leu503Met)
c.733C>A (p.Leu245Met)
c.400C>A (p.Leu134Met)
n.252-5351C>A
7g.138739606A=CA1746780040ATP6V0A4c.1506T= (p.Tyr502=)
c.732T= (p.Tyr244=)
c.399T= (p.Tyr133=)
n.252-5352T=
7g.138739606A>CCA369370319ATP6V0A4c.1506T>G (p.Tyr502Ter)
c.732T>G (p.Tyr244Ter)
c.399T>G (p.Tyr133Ter)
n.252-5352T>G
7g.138739606A>GCA457938071ATP6V0A4c.1506T>C (p.Tyr502=)
c.732T>C (p.Tyr244=)
c.399T>C (p.Tyr133=)
n.252-5352T>C
7g.138739606A>TCA117296ATP6V0A4c.1506T>A (p.Tyr502Ter)
c.732T>A (p.Tyr244Ter)
c.399T>A (p.Tyr133Ter)
n.252-5352T>A
 ClinVar dbSNP
7g.138739607T>ACA369370320ATP6V0A4c.1505A>T (p.Tyr502Phe)
c.731A>T (p.Tyr244Phe)
c.398A>T (p.Tyr133Phe)
n.252-5353A>T
7g.138739607T>CCA369370321ATP6V0A4c.1505A>G (p.Tyr502Cys)
c.731A>G (p.Tyr244Cys)
c.398A>G (p.Tyr133Cys)
n.252-5353A>G
7g.138739607T>GCA369370322ATP6V0A4c.1505A>C (p.Tyr502Ser)
c.731A>C (p.Tyr244Ser)
c.398A>C (p.Tyr133Ser)
n.252-5353A>C
7g.138739608A>CCA369370323ATP6V0A4c.1504T>G (p.Tyr502Asp)
c.730T>G (p.Tyr244Asp)
c.397T>G (p.Tyr133Asp)
n.252-5354T>G
7g.138739608A>GCA369370324ATP6V0A4c.1504T>C (p.Tyr502His)
c.730T>C (p.Tyr244His)
c.397T>C (p.Tyr133His)
n.252-5354T>C
7g.138739608A>TCA369370325ATP6V0A4c.1504T>A (p.Tyr502Asn)
c.730T>A (p.Tyr244Asn)
c.397T>A (p.Tyr133Asn)
n.252-5354T>A
7g.138739608dupCA2695208558ATP6V0A4c.1504dup (p.Tyr502LeufsTer22)
c.730dup (p.Tyr244LeufsTer22)
c.397dup (p.Tyr133LeufsTer22)
n.252-5354dup
7g.138739609T>ACA457938072ATP6V0A4c.1503A>T (p.Leu501=)
c.729A>T (p.Leu243=)
c.396A>T (p.Leu132=)
n.252-5355A>T
7g.138739609T>CCA457938074ATP6V0A4c.1503A>G (p.Leu501=)
c.729A>G (p.Leu243=)
c.396A>G (p.Leu132=)
n.252-5355A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138739609T>GCA457938073ATP6V0A4c.1503A>C (p.Leu501=)
c.729A>C (p.Leu243=)
c.396A>C (p.Leu132=)
n.252-5355A>C
7g.138739609T=CA1746780041ATP6V0A4c.1503A= (p.Leu501=)
c.729A= (p.Leu243=)
c.396A= (p.Leu132=)
n.252-5355A=
7g.138739610A>CCA369370326ATP6V0A4c.1502T>G (p.Leu501Arg)
c.728T>G (p.Leu243Arg)
c.395T>G (p.Leu132Arg)
n.252-5356T>G
7g.138739610A>GCA369370327ATP6V0A4c.1502T>C (p.Leu501Pro)
c.728T>C (p.Leu243Pro)
c.395T>C (p.Leu132Pro)
n.252-5356T>C
7g.138739610A>TCA369370328ATP6V0A4c.1502T>A (p.Leu501Gln)
c.728T>A (p.Leu243Gln)
c.395T>A (p.Leu132Gln)
n.252-5356T>A
7g.138739611G>ACA457938075ATP6V0A4c.1501C>T (p.Leu501=)
c.727C>T (p.Leu243=)
c.394C>T (p.Leu132=)
n.252-5357C>T
7g.138739611G>CCA369370329ATP6V0A4c.1501C>G (p.Leu501Val)
c.727C>G (p.Leu243Val)
c.394C>G (p.Leu132Val)
n.252-5357C>G
7g.138739611G>TCA369370330ATP6V0A4c.1501C>A (p.Leu501Ile)
c.727C>A (p.Leu243Ile)
c.394C>A (p.Leu132Ile)
n.252-5357C>A
7g.138739612A>CCA369370331ATP6V0A4c.1500T>G (p.Ser500Arg)
c.726T>G (p.Ser242Arg)
c.393T>G (p.Ser131Arg)
n.252-5358T>G
7g.138739612A>GCA457938076ATP6V0A4c.1500T>C (p.Ser500=)
c.726T>C (p.Ser242=)
c.393T>C (p.Ser131=)
n.252-5358T>C
7g.138739612A>TCA369370332ATP6V0A4c.1500T>A (p.Ser500Arg)
c.726T>A (p.Ser242Arg)
c.393T>A (p.Ser131Arg)
n.252-5358T>A
7g.138739613C>ACA369370333ATP6V0A4c.1499G>T (p.Ser500Ile)
c.725G>T (p.Ser242Ile)
c.392G>T (p.Ser131Ile)
n.252-5359G>T
7g.138739613C=CA1746780042ATP6V0A4c.1499G= (p.Ser500=)
c.725G= (p.Ser242=)
c.392G= (p.Ser131=)
n.252-5359G=
7g.138739613C>GCA369370335ATP6V0A4c.1499G>C (p.Ser500Thr)
c.725G>C (p.Ser242Thr)
c.392G>C (p.Ser131Thr)
n.252-5359G>C
 dbSNP gnomAD v3 gnomAD v4
7g.138739613C>TCA369370334ATP6V0A4c.1499G>A (p.Ser500Asn)
c.725G>A (p.Ser242Asn)
c.392G>A (p.Ser131Asn)
n.252-5359G>A
7g.138739614T>ACA369370336ATP6V0A4c.1498A>T (p.Ser500Cys)
c.724A>T (p.Ser242Cys)
c.391A>T (p.Ser131Cys)
n.252-5360A>T
7g.138739614T>CCA4504744ATP6V0A4c.1498A>G (p.Ser500Gly)
c.724A>G (p.Ser242Gly)
c.391A>G (p.Ser131Gly)
n.252-5360A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739614T>GCA369370337ATP6V0A4c.1498A>C (p.Ser500Arg)
c.724A>C (p.Ser242Arg)
c.391A>C (p.Ser131Arg)
n.252-5360A>C
7g.138739614T=CA1746780043ATP6V0A4c.1498A= (p.Ser500=)
c.724A= (p.Ser242=)
c.391A= (p.Ser131=)
n.252-5360A=
7g.138739615T>ACA369370338ATP6V0A4c.1497A>T (p.Glu499Asp)
c.723A>T (p.Glu241Asp)
c.390A>T (p.Glu130Asp)
n.252-5361A>T
7g.138739615T>CCA457938077ATP6V0A4c.1497A>G (p.Glu499=)
c.723A>G (p.Glu241=)
c.390A>G (p.Glu130=)
n.252-5361A>G
7g.138739615T>GCA369370339ATP6V0A4c.1497A>C (p.Glu499Asp)
c.723A>C (p.Glu241Asp)
c.390A>C (p.Glu130Asp)
n.252-5361A>C
7g.138739616T>ACA369370340ATP6V0A4c.1496A>T (p.Glu499Val)
c.722A>T (p.Glu241Val)
c.389A>T (p.Glu130Val)
n.252-5362A>T
 gnomAD v4
7g.138739616T>CCA369370341ATP6V0A4c.1496A>G (p.Glu499Gly)
c.722A>G (p.Glu241Gly)
c.389A>G (p.Glu130Gly)
n.252-5362A>G
7g.138739616T>GCA369370342ATP6V0A4c.1496A>C (p.Glu499Ala)
c.722A>C (p.Glu241Ala)
c.389A>C (p.Glu130Ala)
n.252-5362A>C
7g.138739617C>ACA369370343ATP6V0A4c.1495G>T (p.Glu499Ter)
c.721G>T (p.Glu241Ter)
c.388G>T (p.Glu130Ter)
n.252-5363G>T
7g.138739617C>GCA369370344ATP6V0A4c.1495G>C (p.Glu499Gln)
c.721G>C (p.Glu241Gln)
c.388G>C (p.Glu130Gln)
n.252-5363G>C
7g.138739617C>TCA369370345ATP6V0A4c.1495G>A (p.Glu499Lys)
c.721G>A (p.Glu241Lys)
c.388G>A (p.Glu130Lys)
n.252-5363G>A
 ClinVar
7g.138739618C>ACA369370346ATP6V0A4c.1494G>T (p.Glu498Asp)
c.720G>T (p.Glu240Asp)
c.387G>T (p.Glu129Asp)
n.252-5364G>T
7g.138739618C=CA1746780044ATP6V0A4c.1494G= (p.Glu498=)
c.720G= (p.Glu240=)
c.387G= (p.Glu129=)
n.252-5364G=
7g.138739618C>GCA369370347ATP6V0A4c.1494G>C (p.Glu498Asp)
c.720G>C (p.Glu240Asp)
c.387G>C (p.Glu129Asp)
n.252-5364G>C
7g.138739618C>TCA4504745ATP6V0A4c.1494G>A (p.Glu498=)
c.720G>A (p.Glu240=)
c.387G>A (p.Glu129=)
n.252-5364G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.138739619T>ACA369370348ATP6V0A4c.1493A>T (p.Glu498Val)
c.719A>T (p.Glu240Val)
c.386A>T (p.Glu129Val)
n.252-5365A>T
7g.138739619T>CCA369370349ATP6V0A4c.1493A>G (p.Glu498Gly)
c.719A>G (p.Glu240Gly)
c.386A>G (p.Glu129Gly)
n.252-5365A>G
7g.138739619T>GCA369370350ATP6V0A4c.1493A>C (p.Glu498Ala)
c.719A>C (p.Glu240Ala)
c.386A>C (p.Glu129Ala)
n.252-5365A>C
7g.138739620C>ACA369370351ATP6V0A4c.1492G>T (p.Glu498Ter)
c.718G>T (p.Glu240Ter)
c.385G>T (p.Glu129Ter)
n.252-5366G>T
7g.138739620C>GCA369370352ATP6V0A4c.1492G>C (p.Glu498Gln)
c.718G>C (p.Glu240Gln)
c.385G>C (p.Glu129Gln)
n.252-5366G>C
7g.138739620C>TCA369370353ATP6V0A4c.1492G>A (p.Glu498Lys)
c.718G>A (p.Glu240Lys)
c.385G>A (p.Glu129Lys)
n.252-5366G>A
7g.138739621C>ACA369370354ATP6V0A4c.1491G>T (p.Met497Ile)
c.717G>T (p.Met239Ile)
c.384G>T (p.Met128Ile)
n.252-5367G>T
7g.138739621C>GCA369370355ATP6V0A4c.1491G>C (p.Met497Ile)
c.717G>C (p.Met239Ile)
c.384G>C (p.Met128Ile)
n.252-5367G>C
7g.138739621C>TCA369370356ATP6V0A4c.1491G>A (p.Met497Ile)
c.717G>A (p.Met239Ile)
c.384G>A (p.Met128Ile)
n.252-5367G>A
 gnomAD v4
7g.138739622A=CA1746780045ATP6V0A4c.1490T= (p.Met497=)
c.716T= (p.Met239=)
c.383T= (p.Met128=)
n.252-5368T=
7g.138739622A>CCA369370357ATP6V0A4c.1490T>G (p.Met497Arg)
c.716T>G (p.Met239Arg)
c.383T>G (p.Met128Arg)
n.252-5368T>G
7g.138739622A>GCA369370358ATP6V0A4c.1490T>C (p.Met497Thr)
c.716T>C (p.Met239Thr)
c.383T>C (p.Met128Thr)
n.252-5368T>C
 dbSNP gnomAD v3 gnomAD v4
7g.138739622A>TCA369370359ATP6V0A4c.1490T>A (p.Met497Lys)
c.716T>A (p.Met239Lys)
c.383T>A (p.Met128Lys)
n.252-5368T>A
7g.138739623T>ACA369370361ATP6V0A4c.1489A>T (p.Met497Leu)
c.715A>T (p.Met239Leu)
c.382A>T (p.Met128Leu)
n.252-5369A>T
7g.138739623T>CCA4504746ATP6V0A4c.1489A>G (p.Met497Val)
c.715A>G (p.Met239Val)
c.382A>G (p.Met128Val)
n.252-5369A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138739623T>GCA369370360ATP6V0A4c.1489A>C (p.Met497Leu)
c.715A>C (p.Met239Leu)
c.382A>C (p.Met128Leu)
n.252-5369A>C
7g.138739623T=CA1746780046ATP6V0A4c.1489A= (p.Met497=)
c.715A= (p.Met239=)
c.382A= (p.Met128=)
n.252-5369A=
7g.138739624T>ACA457938078ATP6V0A4c.1488A>T (p.Val496=)
c.714A>T (p.Val238=)
c.381A>T (p.Val127=)
n.252-5370A>T
7g.138739624T>CCA457938079ATP6V0A4c.1488A>G (p.Val496=)
c.714A>G (p.Val238=)
c.381A>G (p.Val127=)
n.252-5370A>G
7g.138739624T>GCA457938080ATP6V0A4c.1488A>C (p.Val496=)
c.714A>C (p.Val238=)
c.381A>C (p.Val127=)
n.252-5370A>C
7g.138739625A=CA1746780047ATP6V0A4c.1487T= (p.Val496=)
c.713T= (p.Val238=)
c.380T= (p.Val127=)
n.252-5371T=
7g.138739625A>CCA369370362ATP6V0A4c.1487T>G (p.Val496Gly)
c.713T>G (p.Val238Gly)
c.380T>G (p.Val127Gly)
n.252-5371T>G
 dbSNP gnomAD v2 gnomAD v4
7g.138739625A>GCA369370363ATP6V0A4c.1487T>C (p.Val496Ala)
c.713T>C (p.Val238Ala)
c.380T>C (p.Val127Ala)
n.252-5371T>C
7g.138739625A>TCA369370364ATP6V0A4c.1487T>A (p.Val496Glu)
c.713T>A (p.Val238Glu)
c.380T>A (p.Val127Glu)
n.252-5371T>A
7g.138739626C>ACA369370365ATP6V0A4c.1486G>T (p.Val496Leu)
c.712G>T (p.Val238Leu)
c.379G>T (p.Val127Leu)
n.252-5372G>T
7g.138739626C>GCA369370366ATP6V0A4c.1486G>C (p.Val496Leu)
c.712G>C (p.Val238Leu)
c.379G>C (p.Val127Leu)
n.252-5372G>C
7g.138739626C>TCA369370367ATP6V0A4c.1486G>A (p.Val496Ile)
c.712G>A (p.Val238Ile)
c.379G>A (p.Val127Ile)
n.252-5372G>A
7g.138739627A=CA1746780048ATP6V0A4c.1485T= (p.His495=)
c.711T= (p.His237=)
c.378T= (p.His126=)
n.252-5373T=
7g.138739627A>CCA369370369ATP6V0A4c.1485T>G (p.His495Gln)
c.711T>G (p.His237Gln)
c.378T>G (p.His126Gln)
n.252-5373T>G
7g.138739627A>GCA457938081ATP6V0A4c.1485T>C (p.His495=)
c.711T>C (p.His237=)
c.378T>C (p.His126=)
n.252-5373T>C
 dbSNP
7g.138739627A>TCA369370368ATP6V0A4c.1485T>A (p.His495Gln)
c.711T>A (p.His237Gln)
c.378T>A (p.His126Gln)
n.252-5373T>A
7g.138739628T>ACA369370370ATP6V0A4c.1484A>T (p.His495Leu)
c.710A>T (p.His237Leu)
c.377A>T (p.His126Leu)
n.252-5374A>T
7g.138739628T>CCA369370371ATP6V0A4c.1484A>G (p.His495Arg)
c.710A>G (p.His237Arg)
c.377A>G (p.His126Arg)
n.252-5374A>G
7g.138739628T>GCA369370372ATP6V0A4c.1484A>C (p.His495Pro)
c.710A>C (p.His237Pro)
c.377A>C (p.His126Pro)
n.252-5374A>C
7g.138739629G>ACA369370373ATP6V0A4c.1483C>T (p.His495Tyr)
c.709C>T (p.His237Tyr)
c.376C>T (p.His126Tyr)
n.252-5375C>T
 dbSNP gnomAD v2 gnomAD v4
7g.138739629G>CCA369370374ATP6V0A4c.1483C>G (p.His495Asp)
c.709C>G (p.His237Asp)
c.376C>G (p.His126Asp)
n.252-5375C>G
7g.138739629G=CA1746780049ATP6V0A4c.1483C= (p.His495=)
c.709C= (p.His237=)
c.376C= (p.His126=)
n.252-5375C=
7g.138739629G>TCA369370375ATP6V0A4c.1483C>A (p.His495Asn)
c.709C>A (p.His237Asn)
c.376C>A (p.His126Asn)
n.252-5375C>A
 gnomAD v4
7g.138739630A>CCA457938082ATP6V0A4c.1482T>G (p.Thr494=)
c.708T>G (p.Thr236=)
c.375T>G (p.Thr125=)
n.252-5376T>G
7g.138739630A>GCA457938083ATP6V0A4c.1482T>C (p.Thr494=)
c.708T>C (p.Thr236=)
c.375T>C (p.Thr125=)
n.252-5376T>C
7g.138739630A>TCA457938084ATP6V0A4c.1482T>A (p.Thr494=)
c.708T>A (p.Thr236=)
c.375T>A (p.Thr125=)
n.252-5376T>A

Number of alleles fetched