Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138739550_138739554delinsCCAAACA1746780022ATP6V0A4c.1558_1562delinsTTTGG (p.Phe520=)
c.784_788delinsTTTGG (p.Phe262=)
c.451_455delinsTTTGG (p.Phe151=)
n.252-5300_252-5296delinsTTTGG
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

Number of alleles fetched