Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.56956811C>ACA340510554C8Bc.*190G>T (n.*190G>T)
c.*454G>T (n.*454G>T)
c.349G>T (p.Gly117Ter)
c.163G>T (p.Gly55Ter)
c.193G>T (p.Gly65Ter)
n.449G>T
 dbSNP
1g.56956811C=CA1139846892C8Bc.*190G= (n.*190G=)
c.*454G= (n.*454G=)
c.349G= (p.Gly117=)
c.163G= (p.Gly55=)
c.193G= (p.Gly65=)
n.449G=
1g.56956811C>GCA340510555C8Bc.*190G>C (n.*190G>C)
c.*454G>C (n.*454G>C)
c.349G>C (p.Gly117Arg)
c.163G>C (p.Gly55Arg)
c.193G>C (p.Gly65Arg)
n.449G>C
 dbSNP
1g.56956811C>TCA876022C8Bc.*190G>A (n.*190G>A)
c.*454G>A (n.*454G>A)
c.349G>A (p.Gly117Arg)
c.163G>A (p.Gly55Arg)
c.193G>A (p.Gly65Arg)
n.449G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.56956812G>ACA876023C8Bc.*189C>T (n.*189C>T)
c.*453C>T (n.*453C>T)
c.348C>T (p.Cys116=)
c.162C>T (p.Cys54=)
c.192C>T (p.Cys64=)
n.448C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.56956812G>CCA340510556C8Bc.*189C>G (n.*189C>G)
c.*453C>G (n.*453C>G)
c.348C>G (p.Cys116Trp)
c.162C>G (p.Cys54Trp)
c.192C>G (p.Cys64Trp)
n.448C>G
 dbSNP
1g.56956812G=CA1168786770C8Bc.*189C= (n.*189C=)
c.*453C= (n.*453C=)
c.348C= (p.Cys116=)
c.162C= (p.Cys54=)
c.192C= (p.Cys64=)
n.448C=
1g.56956812G>TCA340510557C8Bc.*189C>A (n.*189C>A)
c.*453C>A (n.*453C>A)
c.348C>A (p.Cys116Ter)
c.162C>A (p.Cys54Ter)
c.192C>A (p.Cys64Ter)
n.448C>A
 ClinVar dbSNP gnomAD v4
1g.56956813C>ACA340510558C8Bc.*188G>T (n.*188G>T)
c.*452G>T (n.*452G>T)
c.347G>T (p.Cys116Phe)
c.161G>T (p.Cys54Phe)
c.191G>T (p.Cys64Phe)
n.447G>T
1g.56956813C>GCA340510559C8Bc.*188G>C (n.*188G>C)
c.*452G>C (n.*452G>C)
c.347G>C (p.Cys116Ser)
c.161G>C (p.Cys54Ser)
c.191G>C (p.Cys64Ser)
n.447G>C
1g.56956813C>TCA340510560C8Bc.*188G>A (n.*188G>A)
c.*452G>A (n.*452G>A)
c.347G>A (p.Cys116Tyr)
c.161G>A (p.Cys54Tyr)
c.191G>A (p.Cys64Tyr)
n.447G>A
1g.56956814A=CA1168786771C8Bc.*187T= (n.*187T=)
c.*451T= (n.*451T=)
c.346T= (p.Cys116=)
c.160T= (p.Cys54=)
c.190T= (p.Cys64=)
n.446T=
1g.56956814A>CCA340510561C8Bc.*187T>G (n.*187T>G)
c.*451T>G (n.*451T>G)
c.346T>G (p.Cys116Gly)
c.160T>G (p.Cys54Gly)
c.190T>G (p.Cys64Gly)
n.446T>G
1g.56956814A>GCA340510563C8Bc.*187T>C (n.*187T>C)
c.*451T>C (n.*451T>C)
c.346T>C (p.Cys116Arg)
c.160T>C (p.Cys54Arg)
c.190T>C (p.Cys64Arg)
n.446T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.56956814A>TCA340510562C8Bc.*187T>A (n.*187T>A)
c.*451T>A (n.*451T>A)
c.346T>A (p.Cys116Ser)
c.160T>A (p.Cys54Ser)
c.190T>A (p.Cys64Ser)
n.446T>A
1g.56956815T>ACA417968676C8Bc.*186A>T (n.*186A>T)
c.*450A>T (n.*450A>T)
c.345A>T (p.Pro115=)
c.159A>T (p.Pro53=)
c.189A>T (p.Pro63=)
n.445A>T
1g.56956815T>CCA417968680C8Bc.*186A>G (n.*186A>G)
c.*450A>G (n.*450A>G)
c.345A>G (p.Pro115=)
c.159A>G (p.Pro53=)
c.189A>G (p.Pro63=)
n.445A>G
1g.56956815T>GCA417968673C8Bc.*186A>C (n.*186A>C)
c.*450A>C (n.*450A>C)
c.345A>C (p.Pro115=)
c.159A>C (p.Pro53=)
c.189A>C (p.Pro63=)
n.445A>C
1g.56956816G>ACA340510564C8Bc.*185C>T (n.*185C>T)
c.*449C>T (n.*449C>T)
c.344C>T (p.Pro115Leu)
c.158C>T (p.Pro53Leu)
c.188C>T (p.Pro63Leu)
n.444C>T
 gnomAD v4
1g.56956816G>CCA340510566C8Bc.*185C>G (n.*185C>G)
c.*449C>G (n.*449C>G)
c.344C>G (p.Pro115Arg)
c.158C>G (p.Pro53Arg)
c.188C>G (p.Pro63Arg)
n.444C>G
1g.56956816G>TCA340510565C8Bc.*185C>A (n.*185C>A)
c.*449C>A (n.*449C>A)
c.344C>A (p.Pro115Gln)
c.158C>A (p.Pro53Gln)
c.188C>A (p.Pro63Gln)
n.444C>A
1g.56956817G>ACA22833040C8Bc.*184C>T (n.*184C>T)
c.*448C>T (n.*448C>T)
c.343C>T (p.Pro115Ser)
c.157C>T (p.Pro53Ser)
c.187C>T (p.Pro63Ser)
n.443C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.56956817G>CCA340510567C8Bc.*184C>G (n.*184C>G)
c.*448C>G (n.*448C>G)
c.343C>G (p.Pro115Ala)
c.157C>G (p.Pro53Ala)
c.187C>G (p.Pro63Ala)
n.443C>G
1g.56956817G=CA1168786772C8Bc.*184C= (n.*184C=)
c.*448C= (n.*448C=)
c.343C= (p.Pro115=)
c.157C= (p.Pro53=)
c.187C= (p.Pro63=)
n.443C=
1g.56956817G>TCA340510568C8Bc.*184C>A (n.*184C>A)
c.*448C>A (n.*448C>A)
c.343C>A (p.Pro115Thr)
c.157C>A (p.Pro53Thr)
c.187C>A (p.Pro63Thr)
n.443C>A
 gnomAD v4
1g.56956818T>ACA340510569C8Bc.*183A>T (n.*183A>T)
c.*447A>T (n.*447A>T)
c.342A>T (p.Arg114Ser)
c.156A>T (p.Arg52Ser)
c.186A>T (p.Arg62Ser)
n.442A>T
1g.56956818T>CCA417968723C8Bc.*183A>G (n.*183A>G)
c.*447A>G (n.*447A>G)
c.342A>G (p.Arg114=)
c.156A>G (p.Arg52=)
c.186A>G (p.Arg62=)
n.442A>G
 gnomAD v4
1g.56956818T>GCA340510570C8Bc.*183A>C (n.*183A>C)
c.*447A>C (n.*447A>C)
c.342A>C (p.Arg114Ser)
c.156A>C (p.Arg52Ser)
c.186A>C (p.Arg62Ser)
n.442A>C
1g.56956819C>ACA340510571C8Bc.*182G>T (n.*182G>T)
c.*446G>T (n.*446G>T)
c.341G>T (p.Arg114Ile)
c.155G>T (p.Arg52Ile)
c.185G>T (p.Arg62Ile)
n.441G>T
1g.56956819C=CA1168786773C8Bc.*182G= (n.*182G=)
c.*446G= (n.*446G=)
c.341G= (p.Arg114=)
c.155G= (p.Arg52=)
c.185G= (p.Arg62=)
n.441G=
1g.56956819C>GCA340510572C8Bc.*182G>C (n.*182G>C)
c.*446G>C (n.*446G>C)
c.341G>C (p.Arg114Thr)
c.155G>C (p.Arg52Thr)
c.185G>C (p.Arg62Thr)
n.441G>C
1g.56956819C>TCA340510573C8Bc.*182G>A (n.*182G>A)
c.*446G>A (n.*446G>A)
c.341G>A (p.Arg114Lys)
c.155G>A (p.Arg52Lys)
c.185G>A (p.Arg62Lys)
n.441G>A
 dbSNP
1g.56956820T>ACA340510574C8Bc.*181A>T (n.*181A>T)
c.*445A>T (n.*445A>T)
c.340A>T (p.Arg114Ter)
c.154A>T (p.Arg52Ter)
c.184A>T (p.Arg62Ter)
n.440A>T
1g.56956820T>CCA340510575C8Bc.*181A>G (n.*181A>G)
c.*445A>G (n.*445A>G)
c.340A>G (p.Arg114Gly)
c.154A>G (p.Arg52Gly)
c.184A>G (p.Arg62Gly)
n.440A>G
1g.56956820T>GCA417968740C8Bc.*181A>C (n.*181A>C)
c.*445A>C (n.*445A>C)
c.340A>C (p.Arg114=)
c.154A>C (p.Arg52=)
c.184A>C (p.Arg62=)
n.440A>C
1g.56956821G>ACA417968745C8Bc.*180C>T (n.*180C>T)
c.*444C>T (n.*444C>T)
c.339C>T (p.Asn113=)
c.153C>T (p.Asn51=)
c.183C>T (p.Asn61=)
n.439C>T
1g.56956821G>CCA340510576C8Bc.*180C>G (n.*180C>G)
c.*444C>G (n.*444C>G)
c.339C>G (p.Asn113Lys)
c.153C>G (p.Asn51Lys)
c.183C>G (p.Asn61Lys)
n.439C>G
1g.56956821G>TCA340510577C8Bc.*180C>A (n.*180C>A)
c.*444C>A (n.*444C>A)
c.339C>A (p.Asn113Lys)
c.153C>A (p.Asn51Lys)
c.183C>A (p.Asn61Lys)
n.439C>A
1g.56956822T>ACA340510578C8Bc.*179A>T (n.*179A>T)
c.*443A>T (n.*443A>T)
c.338A>T (p.Asn113Ile)
c.152A>T (p.Asn51Ile)
c.182A>T (p.Asn61Ile)
n.438A>T
 gnomAD v4
1g.56956822T>CCA340510580C8Bc.*179A>G (n.*179A>G)
c.*443A>G (n.*443A>G)
c.338A>G (p.Asn113Ser)
c.152A>G (p.Asn51Ser)
c.182A>G (p.Asn61Ser)
n.438A>G
1g.56956822T>GCA340510579C8Bc.*179A>C (n.*179A>C)
c.*443A>C (n.*443A>C)
c.338A>C (p.Asn113Thr)
c.152A>C (p.Asn51Thr)
c.182A>C (p.Asn61Thr)
n.438A>C
1g.56956823T>ACA340510581C8Bc.*178A>T (n.*178A>T)
c.*442A>T (n.*442A>T)
c.337A>T (p.Asn113Tyr)
c.151A>T (p.Asn51Tyr)
c.181A>T (p.Asn61Tyr)
n.437A>T
1g.56956823T>CCA876024C8Bc.*178A>G (n.*178A>G)
c.*442A>G (n.*442A>G)
c.337A>G (p.Asn113Asp)
c.151A>G (p.Asn51Asp)
c.181A>G (p.Asn61Asp)
n.437A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.56956823T>GCA340510582C8Bc.*178A>C (n.*178A>C)
c.*442A>C (n.*442A>C)
c.337A>C (p.Asn113His)
c.151A>C (p.Asn51His)
c.181A>C (p.Asn61His)
n.437A>C
1g.56956823T=CA1168786775C8Bc.*178A= (n.*178A=)
c.*442A= (n.*442A=)
c.337A= (p.Asn113=)
c.151A= (p.Asn51=)
c.181A= (p.Asn61=)
n.437A=
1g.56956823_56956824delinsTGCA1168786774C8Bc.*177_*178delinsCA (n.*177_*178delinsCA)
c.*441_*442delinsCA (n.*441_*442delinsCA)
c.336_337delinsCA (p.Thr112=)
c.150_151delinsCA (p.Thr50=)
c.180_181delinsCA (p.Thr60=)
n.436_437delinsCA
1g.56956824G>ACA417968774C8Bc.*177C>T (n.*177C>T)
c.*441C>T (n.*441C>T)
c.336C>T (p.Thr112=)
c.150C>T (p.Thr50=)
c.180C>T (p.Thr60=)
n.436C>T
 gnomAD v4
1g.56956824G>CCA417968775C8Bc.*177C>G (n.*177C>G)
c.*441C>G (n.*441C>G)
c.336C>G (p.Thr112=)
c.150C>G (p.Thr50=)
c.180C>G (p.Thr60=)
n.436C>G
1g.56956824G>TCA417968776C8Bc.*177C>A (n.*177C>A)
c.*441C>A (n.*441C>A)
c.336C>A (p.Thr112=)
c.150C>A (p.Thr50=)
c.180C>A (p.Thr60=)
n.436C>A
1g.56956824_56956825delinsGGCA1143897584C8Bc.*176_*177delinsCC (n.*176_*177delinsCC)
c.*440_*441delinsCC (n.*440_*441delinsCC)
c.335_336delinsCC (p.Thr112=)
c.149_150delinsCC (p.Thr50=)
c.179_180delinsCC (p.Thr60=)
n.435_436delinsCC

Number of alleles fetched