Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128911344A>CCA383245592KCNJ5c.71A>C (p.Lys24Thr)
11g.128911344A>GCA383245593KCNJ5c.71A>G (p.Lys24Arg)
11g.128911344A>TCA383245595KCNJ5c.71A>T (p.Lys24Met)
11g.128911345G>ACA6357815KCNJ5c.72G>A (p.Lys24=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911345G>CCA383245597KCNJ5c.72G>C (p.Lys24Asn)
11g.128911345G=CA2008280054KCNJ5c.72G= (p.Lys24=)
11g.128911345G>TCA383245600KCNJ5c.72G>T (p.Lys24Asn)
11g.128911346A>CCA383245604KCNJ5c.73A>C (p.Ile25Leu)
11g.128911346A>GCA383245606KCNJ5c.73A>G (p.Ile25Val)
11g.128911346A>TCA383245608KCNJ5c.73A>T (p.Ile25Phe)
ClinVar dbSNP
11g.128911347T>ACA383245619KCNJ5c.74T>A (p.Ile25Asn)
11g.128911347T>CCA383245617KCNJ5c.74T>C (p.Ile25Thr)
11g.128911347T>GCA383245613KCNJ5c.74T>G (p.Ile25Ser)
11g.128911348delCA477703367KCNJ5c.75del (p.Pro26GlnfsTer?)
COSMIC
11g.128911348T>ACA477703368KCNJ5c.75T>A (p.Ile25=)
11g.128911348T>CCA477703371KCNJ5c.75T>C (p.Ile25=)
11g.128911348T>GCA383245627KCNJ5c.75T>G (p.Ile25Met)
11g.128911349C>ACA383245630KCNJ5c.76C>A (p.Pro26Thr)
11g.128911349C>GCA383245634KCNJ5c.76C>G (p.Pro26Ala)
11g.128911349C>TCA383245637KCNJ5c.76C>T (p.Pro26Ser)
11g.128911350C>ACA383245640KCNJ5c.77C>A (p.Pro26Gln)
dbSNP gnomAD v3 gnomAD v4
11g.128911350C=CA2008280058KCNJ5c.77C= (p.Pro26=)
11g.128911350C>GCA383245641KCNJ5c.77C>G (p.Pro26Arg)
11g.128911350C>TCA383245642KCNJ5c.77C>T (p.Pro26Leu)
dbSNP gnomAD v2
11g.128911351A>CCA477703378KCNJ5c.78A>C (p.Pro26=)
gnomAD v4
11g.128911351A>GCA477703376KCNJ5c.78A>G (p.Pro26=)
gnomAD v4
11g.128911351A>TCA477703377KCNJ5c.78A>T (p.Pro26=)
11g.128911354dupCA645595697KCNJ5c.81dup (p.Gln28ThrfsTer?)
COSMIC
11g.128911352A>CCA383245643KCNJ5c.79A>C (p.Lys27Gln)
11g.128911352A>GCA383245644KCNJ5c.79A>G (p.Lys27Glu)
11g.128911352A>TCA383245647KCNJ5c.79A>T (p.Lys27Ter)
11g.128911353A=CA2008280063KCNJ5c.80A= (p.Lys27=)
11g.128911353A>CCA383245650KCNJ5c.80A>C (p.Lys27Thr)
11g.128911353A>GCA383245651KCNJ5c.80A>G (p.Lys27Arg)
dbSNP
11g.128911353A>TCA383245652KCNJ5c.80A>T (p.Lys27Ile)
11g.128911354A=CA2008280064KCNJ5c.81A= (p.Lys27=)
11g.128911354A>CCA383245665KCNJ5c.81A>C (p.Lys27Asn)
11g.128911354A>GCA6357816KCNJ5c.81A>G (p.Lys27=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911354A>TCA383245656KCNJ5c.81A>T (p.Lys27Asn)
11g.128911355C>ACA383245670KCNJ5c.82C>A (p.Gln28Lys)
11g.128911355C=CA2008280066KCNJ5c.82C= (p.Gln28=)
11g.128911355C>GCA383245666KCNJ5c.82C>G (p.Gln28Glu)
dbSNP gnomAD v3 gnomAD v4
11g.128911355C>TCA383245667KCNJ5c.82C>T (p.Gln28Ter)
11g.128911356A>CCA383245673KCNJ5c.83A>C (p.Gln28Pro)
11g.128911356A>GCA383245674KCNJ5c.83A>G (p.Gln28Arg)
gnomAD v2 gnomAD v4
11g.128911356A>TCA383245676KCNJ5c.83A>T (p.Gln28Leu)
11g.128911357G>ACA477703386KCNJ5c.84G>A (p.Gln28=)
gnomAD v4
11g.128911357G>CCA383245679KCNJ5c.84G>C (p.Gln28His)
COSMIC
11g.128911357G>TCA383245681KCNJ5c.84G>T (p.Gln28His)
11g.128911358G>ACA383245695KCNJ5c.85G>A (p.Ala29Thr)

Number of alleles fetched