Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138762335C>ACA2685129789ATP6V0A4c.512+5G>T (n.512+5G>T)
n.761+5G>T
 gnomAD v4
7g.138762335C>TCA2685129788ATP6V0A4c.512+5G>A (n.512+5G>A)
n.761+5G>A
 gnomAD v4
7g.138762336T>ACA2580783769ATP6V0A4c.512+4A>T (n.512+4A>T)
n.761+4A>T
7g.138762336T>CCA4505110ATP6V0A4c.512+4A>G (n.512+4A>G)
n.761+4A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138762336T>GCA2580783768ATP6V0A4c.512+4A>C (n.512+4A>C)
n.761+4A>C
7g.138762336T=CA1746790377ATP6V0A4c.512+4A= (n.512+4A=)
n.761+4A=
7g.138762338A>CCA369376261ATP6V0A4c.512+2T>G (n.512+2T>G)
n.761+2T>G
7g.138762338A>GCA369376258ATP6V0A4c.512+2T>C (n.512+2T>C)
n.761+2T>C
7g.138762338A>TCA369376255ATP6V0A4c.512+2T>A (n.512+2T>A)
n.761+2T>A
7g.138762339C>ACA369376263ATP6V0A4c.512+1G>T (n.512+1G>T)
n.761+1G>T
 dbSNP
7g.138762339C>GCA369376265ATP6V0A4c.512+1G>C (n.512+1G>C)
n.761+1G>C
7g.138762339C>TCA369376267ATP6V0A4c.512+1G>A (n.512+1G>A)
n.761+1G>A
7g.138762340C>ACA369376269ATP6V0A4c.512G>T (p.Gly171Val)
n.761G>T
7g.138762340C=CA1746790378ATP6V0A4c.512G= (p.Gly171=)
n.761G=
7g.138762340C>GCA369376270ATP6V0A4c.512G>C (p.Gly171Ala)
n.761G>C
7g.138762340C>TCA4505111ATP6V0A4c.512G>A (p.Gly171Glu)
n.761G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.138762341C>ACA369376274ATP6V0A4c.511G>T (p.Gly171Trp)
n.760G>T
7g.138762341C=CA1746790379ATP6V0A4c.511G= (p.Gly171=)
n.760G=
7g.138762341C>GCA369376276ATP6V0A4c.511G>C (p.Gly171Arg)
n.760G>C
7g.138762341C>TCA369376278ATP6V0A4c.511G>A (p.Gly171Arg)
n.760G>A
 dbSNP
7g.138762342C>ACA369376281ATP6V0A4c.510G>T (p.Leu170Phe)
n.759G>T
7g.138762342C>GCA369376282ATP6V0A4c.510G>C (p.Leu170Phe)
n.759G>C
7g.138762342C>TCA457941847ATP6V0A4c.510G>A (p.Leu170=)
n.759G>A
7g.138762343A>CCA369376288ATP6V0A4c.509T>G (p.Leu170Trp)
n.758T>G
7g.138762343A>GCA369376286ATP6V0A4c.509T>C (p.Leu170Ser)
n.758T>C
7g.138762343A>TCA369376285ATP6V0A4c.509T>A (p.Leu170Ter)
n.758T>A
7g.138762344A=CA1746790380ATP6V0A4c.508T= (p.Leu170=)
n.757T=
7g.138762344A>CCA369376290ATP6V0A4c.508T>G (p.Leu170Val)
n.757T>G
7g.138762344A>GCA457941850ATP6V0A4c.508T>C (p.Leu170=)
n.757T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138762344A>TCA369376291ATP6V0A4c.508T>A (p.Leu170Met)
n.757T>A
 dbSNP gnomAD v4
7g.138762345C>ACA369376293ATP6V0A4c.507G>T (p.Lys169Asn)
n.756G>T
7g.138762345C>GCA369376295ATP6V0A4c.507G>C (p.Lys169Asn)
n.756G>C
7g.138762345C>TCA457941852ATP6V0A4c.507G>A (p.Lys169=)
n.756G>A
7g.138762346T>ACA369376298ATP6V0A4c.506A>T (p.Lys169Met)
n.755A>T
7g.138762346T>CCA369376300ATP6V0A4c.506A>G (p.Lys169Arg)
n.755A>G
 gnomAD v4
7g.138762346T>GCA369376301ATP6V0A4c.506A>C (p.Lys169Thr)
n.755A>C
7g.138762347T>ACA369376303ATP6V0A4c.505A>T (p.Lys169Ter)
n.754A>T
7g.138762347T>CCA369376305ATP6V0A4c.505A>G (p.Lys169Glu)
n.754A>G
7g.138762347T>GCA369376307ATP6V0A4c.505A>C (p.Lys169Gln)
n.754A>C
 dbSNP gnomAD v3 gnomAD v4
7g.138762347T=CA1746790381ATP6V0A4c.505A= (p.Lys169=)
n.754A=
7g.138762348T>ACA457941857ATP6V0A4c.504A>T (p.Gly168=)
n.753A>T
7g.138762348T>CCA457941856ATP6V0A4c.504A>G (p.Gly168=)
n.753A>G
7g.138762348T>GCA457941855ATP6V0A4c.504A>C (p.Gly168=)
n.753A>C
7g.138762349C>ACA369376310ATP6V0A4c.503G>T (p.Gly168Val)
n.752G>T
7g.138762349C>GCA369376312ATP6V0A4c.503G>C (p.Gly168Ala)
n.752G>C
7g.138762349C>TCA369376314ATP6V0A4c.503G>A (p.Gly168Glu)
n.752G>A
 gnomAD v4 COSMIC
7g.138762350C>ACA369376320ATP6V0A4c.502G>T (p.Gly168Ter)
n.751G>T
 gnomAD v4 COSMIC
7g.138762350C=CA1746790382ATP6V0A4c.502G= (p.Gly168=)
n.751G=
7g.138762350C>GCA369376322ATP6V0A4c.502G>C (p.Gly168Arg)
n.751G>C
7g.138762350C>TCA4505112ATP6V0A4c.502G>A (p.Gly168Arg)
n.751G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched