Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5044975G>ACA6399724KCNA5c.828G>A (p.Arg276=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044975G>CCA383465242KCNA5c.828G>C (p.Arg276Ser)
12g.5044975G=CA2013430986KCNA5c.828G= (p.Arg276=)
12g.5044975G>TCA383465241KCNA5c.828G>T (p.Arg276Ser)
12g.5044976G>ACA6399725KCNA5c.829G>A (p.Asp277Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044976G>CCA383465243KCNA5c.829G>C (p.Asp277His)
dbSNP gnomAD v4
12g.5044976G=CA2013430987KCNA5c.829G= (p.Asp277=)
12g.5044976G>TCA383465244KCNA5c.829G>T (p.Asp277Tyr)
gnomAD v4
12g.5044977A=CA2013430988KCNA5c.830A= (p.Asp277=)
12g.5044977A>CCA383465245KCNA5c.830A>C (p.Asp277Ala)
12g.5044977A>GCA231867923KCNA5c.830A>G (p.Asp277Gly)
ClinVar dbSNP gnomAD v4
12g.5044977A>TCA383465246KCNA5c.830A>T (p.Asp277Val)
12g.5044978T>ACA383465247KCNA5c.831T>A (p.Asp277Glu)
gnomAD v4
12g.5044978T>CCA478095197KCNA5c.831T>C (p.Asp277=)
gnomAD v4
12g.5044978T>GCA383465248KCNA5c.831T>G (p.Asp277Glu)
dbSNP gnomAD v2 gnomAD v4
12g.5044978T=CA2013430989KCNA5c.831T= (p.Asp277=)
12g.5044979G>ACA383465249KCNA5c.832G>A (p.Glu278Lys)
12g.5044979G>CCA383465250KCNA5c.832G>C (p.Glu278Gln)
12g.5044979G>TCA383465251KCNA5c.832G>T (p.Glu278Ter)
12g.5044980A>CCA383465252KCNA5c.833A>C (p.Glu278Ala)
12g.5044980A>GCA383465254KCNA5c.833A>G (p.Glu278Gly)
12g.5044980A>TCA383465253KCNA5c.833A>T (p.Glu278Val)
12g.5044981A=CA2013430990KCNA5c.834A= (p.Glu278=)
12g.5044981A>CCA383465255KCNA5c.834A>C (p.Glu278Asp)
dbSNP gnomAD v4
12g.5044981A>GCA478095210KCNA5c.834A>G (p.Glu278=)
gnomAD v4
12g.5044981A>TCA383465256KCNA5c.834A>T (p.Glu278Asp)
12g.5044982C>ACA383465257KCNA5c.835C>A (p.Arg279Ser)
COSMIC
12g.5044982C=CA2013430991KCNA5c.835C= (p.Arg279=)
12g.5044982C>GCA383465258KCNA5c.835C>G (p.Arg279Gly)
12g.5044982C>TCA6399726KCNA5c.835C>T (p.Arg279Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5044983G>ACA6399727KCNA5c.836G>A (p.Arg279His)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044983G>CCA383465259KCNA5c.836G>C (p.Arg279Pro)
gnomAD v4
12g.5044983G=CA2013430992KCNA5c.836G= (p.Arg279=)
12g.5044983G>TCA383465260KCNA5c.836G>T (p.Arg279Leu)
dbSNP
12g.5044984T>ACA6399728KCNA5c.837T>A (p.Arg279=)
dbSNP ExAC gnomAD v2
12g.5044984T>CCA478095211KCNA5c.837T>C (p.Arg279=)
12g.5044984T>GCA478095212KCNA5c.837T>G (p.Arg279=)
12g.5044984T=CA2013430993KCNA5c.837T= (p.Arg279=)
12g.5044985G>ACA383465261KCNA5c.838G>A (p.Glu280Lys)
12g.5044985G>CCA383465262KCNA5c.838G>C (p.Glu280Gln)
12g.5044985G>TCA383465263KCNA5c.838G>T (p.Glu280Ter)
12g.5044986A>CCA383465266KCNA5c.839A>C (p.Glu280Ala)
12g.5044986A>GCA383465264KCNA5c.839A>G (p.Glu280Gly)
12g.5044986A>TCA383465265KCNA5c.839A>T (p.Glu280Val)
12g.5044987G>ACA478095215KCNA5c.840G>A (p.Glu280=)
12g.5044987G>CCA383465267KCNA5c.840G>C (p.Glu280Asp)
12g.5044987G>TCA383465268KCNA5c.840G>T (p.Glu280Asp)
gnomAD v4
12g.5044988C>ACA383465269KCNA5c.841C>A (p.Leu281Met)
gnomAD v4 COSMIC
12g.5044988C=CA2013430994KCNA5c.841C= (p.Leu281=)
12g.5044988C>GCA383465270KCNA5c.841C>G (p.Leu281Val)

Number of alleles fetched