Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128911915_128911918delCA2616775470KCNJ5c.642_645del (p.Lys214AsnfsTer?)
gnomAD v4
11g.128911918G>ACA6357910KCNJ5c.645G>A (p.Leu215=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128911918G>CCA477703795KCNJ5c.645G>C (p.Leu215=)
11g.128911918G=CA2008292917KCNJ5c.645G= (p.Leu215=)
11g.128911918G>TCA477703797KCNJ5c.645G>T (p.Leu215=)
11g.128911919T>ACA383249481KCNJ5c.646T>A (p.Cys216Ser)
gnomAD v4
11g.128911919T>CCA383249482KCNJ5c.646T>C (p.Cys216Arg)
ClinVar
11g.128911919T>GCA383249484KCNJ5c.646T>G (p.Cys216Gly)
11g.128911920G>ACA383249489KCNJ5c.647G>A (p.Cys216Tyr)
11g.128911920G>CCA383249488KCNJ5c.647G>C (p.Cys216Ser)
11g.128911920G>TCA383249486KCNJ5c.647G>T (p.Cys216Phe)
11g.128911921C>ACA383249492KCNJ5c.648C>A (p.Cys216Ter)
11g.128911921C>GCA383249493KCNJ5c.648C>G (p.Cys216Trp)
11g.128911921C>TCA477703800KCNJ5c.648C>T (p.Cys216=)
11g.128911922C>ACA383249497KCNJ5c.649C>A (p.Leu217Ile)
11g.128911922C>GCA383249498KCNJ5c.649C>G (p.Leu217Val)
11g.128911922C>TCA383249500KCNJ5c.649C>T (p.Leu217Phe)
11g.128911923T>ACA383249503KCNJ5c.650T>A (p.Leu217His)
11g.128911923T>CCA383249505KCNJ5c.650T>C (p.Leu217Pro)
11g.128911923T>GCA383249508KCNJ5c.650T>G (p.Leu217Arg)
11g.128911924C>ACA477703803KCNJ5c.651C>A (p.Leu217=)
11g.128911924C>GCA477703807KCNJ5c.651C>G (p.Leu217=)
11g.128911924C>TCA477703805KCNJ5c.651C>T (p.Leu217=)
dbSNP
11g.128911925A>CCA383249510KCNJ5c.652A>C (p.Met218Leu)
gnomAD v4
11g.128911925A>GCA383249511KCNJ5c.652A>G (p.Met218Val)
11g.128911925A>TCA383249513KCNJ5c.652A>T (p.Met218Leu)
11g.128911926T>ACA383249516KCNJ5c.653T>A (p.Met218Lys)
11g.128911926T>CCA383249517KCNJ5c.653T>C (p.Met218Thr)
gnomAD v4
11g.128911926T>GCA383249519KCNJ5c.653T>G (p.Met218Arg)
11g.128911927G>ACA6357911KCNJ5c.654G>A (p.Met218Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128911927G>CCA383249525KCNJ5c.654G>C (p.Met218Ile)
11g.128911927G=CA2008292924KCNJ5c.654G= (p.Met218=)
11g.128911927G>TCA383249522KCNJ5c.654G>T (p.Met218Ile)
11g.128911928T>ACA383249527KCNJ5c.655T>A (p.Phe219Ile)
11g.128911928T>CCA383249529KCNJ5c.655T>C (p.Phe219Leu)
dbSNP
11g.128911928T>GCA383249531KCNJ5c.655T>G (p.Phe219Val)
gnomAD v4
11g.128911929T>ACA383249532KCNJ5c.656T>A (p.Phe219Tyr)
11g.128911929T>CCA383249533KCNJ5c.656T>C (p.Phe219Ser)
11g.128911929T>GCA383249535KCNJ5c.656T>G (p.Phe219Cys)
11g.128911930C>ACA383249537KCNJ5c.657C>A (p.Phe219Leu)
11g.128911930C>GCA383249538KCNJ5c.657C>G (p.Phe219Leu)
11g.128911930C>TCA477703812KCNJ5c.657C>T (p.Phe219=)
COSMIC
11g.128911931C>ACA477703814KCNJ5c.658C>A (p.Arg220=)
11g.128911931C=CA2008292928KCNJ5c.658C= (p.Arg220=)
11g.128911931C>GCA383249541KCNJ5c.658C>G (p.Arg220Gly)
11g.128911931C>TCA339190KCNJ5c.658C>T (p.Arg220Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128911932G>ACA6357912KCNJ5c.659G>A (p.Arg220Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128911932G>CCA383249545KCNJ5c.659G>C (p.Arg220Pro)
11g.128911932G=CA2008292936KCNJ5c.659G= (p.Arg220=)
11g.128911932G>TCA383249547KCNJ5c.659G>T (p.Arg220Leu)
ClinVar dbSNP gnomAD v4

Number of alleles fetched