Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.56956799G>ACA210867C8Bc.*202C>T (n.*202C>T)
c.*466C>T (n.*466C>T)
c.361C>T (p.Arg121Ter)
c.175C>T (p.Arg59Ter)
c.205C>T (p.Arg69Ter)
n.461C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.56956799G>CCA340510531C8Bc.*202C>G (n.*202C>G)
c.*466C>G (n.*466C>G)
c.361C>G (p.Arg121Gly)
c.175C>G (p.Arg59Gly)
c.205C>G (p.Arg69Gly)
n.461C>G
 dbSNP gnomAD v3 gnomAD v4
1g.56956799G=CA1142338275C8Bc.*202C= (n.*202C=)
c.*466C= (n.*466C=)
c.361C= (p.Arg121=)
c.175C= (p.Arg59=)
c.205C= (p.Arg69=)
n.461C=
1g.56956799G>TCA876017C8Bc.*202C>A (n.*202C>A)
c.*466C>A (n.*466C>A)
c.361C>A (p.Arg121=)
c.175C>A (p.Arg59=)
c.205C>A (p.Arg69=)
n.461C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.56956800C>ACA22833025C8Bc.*201G>T (n.*201G>T)
c.*465G>T (n.*465G>T)
c.360G>T (p.Val120=)
c.174G>T (p.Val58=)
c.204G>T (p.Val68=)
n.460G>T
 dbSNP
1g.56956800C=CA1168786766C8Bc.*201G= (n.*201G=)
c.*465G= (n.*465G=)
c.360G= (p.Val120=)
c.174G= (p.Val58=)
c.204G= (p.Val68=)
n.460G=
1g.56956800C>GCA417968523C8Bc.*201G>C (n.*201G>C)
c.*465G>C (n.*465G>C)
c.360G>C (p.Val120=)
c.174G>C (p.Val58=)
c.204G>C (p.Val68=)
n.460G>C
1g.56956800C>TCA417968517C8Bc.*201G>A (n.*201G>A)
c.*465G>A (n.*465G>A)
c.360G>A (p.Val120=)
c.174G>A (p.Val58=)
c.204G>A (p.Val68=)
n.460G>A
1g.56956801A>CCA340510532C8Bc.*200T>G (n.*200T>G)
c.*464T>G (n.*464T>G)
c.359T>G (p.Val120Gly)
c.173T>G (p.Val58Gly)
c.203T>G (p.Val68Gly)
n.459T>G
1g.56956801A>GCA340510533C8Bc.*200T>C (n.*200T>C)
c.*464T>C (n.*464T>C)
c.359T>C (p.Val120Ala)
c.173T>C (p.Val58Ala)
c.203T>C (p.Val68Ala)
n.459T>C
1g.56956801A>TCA340510534C8Bc.*200T>A (n.*200T>A)
c.*464T>A (n.*464T>A)
c.359T>A (p.Val120Glu)
c.173T>A (p.Val58Glu)
c.203T>A (p.Val68Glu)
n.459T>A
1g.56956802C>ACA340510537C8Bc.*199G>T (n.*199G>T)
c.*463G>T (n.*463G>T)
c.358G>T (p.Val120Leu)
c.172G>T (p.Val58Leu)
c.202G>T (p.Val68Leu)
n.458G>T
1g.56956802C>GCA340510535C8Bc.*199G>C (n.*199G>C)
c.*463G>C (n.*463G>C)
c.358G>C (p.Val120Leu)
c.172G>C (p.Val58Leu)
c.202G>C (p.Val68Leu)
n.458G>C
1g.56956802C>TCA340510536C8Bc.*199G>A (n.*199G>A)
c.*463G>A (n.*463G>A)
c.358G>A (p.Val120Met)
c.172G>A (p.Val58Met)
c.202G>A (p.Val68Met)
n.458G>A
1g.56956803T>ACA340510538C8Bc.*198A>T (n.*198A>T)
c.*462A>T (n.*462A>T)
c.357A>T (p.Gln119His)
c.171A>T (p.Gln57His)
c.201A>T (p.Gln67His)
n.457A>T
1g.56956803T>CCA417968550C8Bc.*198A>G (n.*198A>G)
c.*462A>G (n.*462A>G)
c.357A>G (p.Gln119=)
c.171A>G (p.Gln57=)
c.201A>G (p.Gln67=)
n.457A>G
1g.56956803T>GCA340510539C8Bc.*198A>C (n.*198A>C)
c.*462A>C (n.*462A>C)
c.357A>C (p.Gln119His)
c.171A>C (p.Gln57His)
c.201A>C (p.Gln67His)
n.457A>C
1g.56956804T>ACA340510540C8Bc.*197A>T (n.*197A>T)
c.*461A>T (n.*461A>T)
c.356A>T (p.Gln119Leu)
c.170A>T (p.Gln57Leu)
c.200A>T (p.Gln67Leu)
n.456A>T
1g.56956804T>CCA340510541C8Bc.*197A>G (n.*197A>G)
c.*461A>G (n.*461A>G)
c.356A>G (p.Gln119Arg)
c.170A>G (p.Gln57Arg)
c.200A>G (p.Gln67Arg)
n.456A>G
1g.56956804T>GCA340510542C8Bc.*197A>C (n.*197A>C)
c.*461A>C (n.*461A>C)
c.356A>C (p.Gln119Pro)
c.170A>C (p.Gln57Pro)
c.200A>C (p.Gln67Pro)
n.456A>C
1g.56956805G>ACA340510544C8Bc.*196C>T (n.*196C>T)
c.*460C>T (n.*460C>T)
c.355C>T (p.Gln119Ter)
c.169C>T (p.Gln57Ter)
c.199C>T (p.Gln67Ter)
n.455C>T
 ClinVar dbSNP gnomAD v4
1g.56956805G>CCA340510543C8Bc.*196C>G (n.*196C>G)
c.*460C>G (n.*460C>G)
c.355C>G (p.Gln119Glu)
c.169C>G (p.Gln57Glu)
c.199C>G (p.Gln67Glu)
n.455C>G
1g.56956805G=CA1168786767C8Bc.*196C= (n.*196C=)
c.*460C= (n.*460C=)
c.355C= (p.Gln119=)
c.169C= (p.Gln57=)
c.199C= (p.Gln67=)
n.455C=
1g.56956805G>TCA876018C8Bc.*196C>A (n.*196C>A)
c.*460C>A (n.*460C>A)
c.355C>A (p.Gln119Lys)
c.169C>A (p.Gln57Lys)
c.199C>A (p.Gln67Lys)
n.455C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.56956806A=CA1168786768C8Bc.*195T= (n.*195T=)
c.*459T= (n.*459T=)
c.354T= (p.Ser118=)
c.168T= (p.Ser56=)
c.198T= (p.Ser66=)
n.454T=
1g.56956806A>CCA340510545C8Bc.*195T>G (n.*195T>G)
c.*459T>G (n.*459T>G)
c.354T>G (p.Ser118Arg)
c.168T>G (p.Ser56Arg)
c.198T>G (p.Ser66Arg)
n.454T>G
1g.56956806A>GCA876019C8Bc.*195T>C (n.*195T>C)
c.*459T>C (n.*459T>C)
c.354T>C (p.Ser118=)
c.168T>C (p.Ser56=)
c.198T>C (p.Ser66=)
n.454T>C
 dbSNP ExAC gnomAD v2
1g.56956806A>TCA340510546C8Bc.*195T>A (n.*195T>A)
c.*459T>A (n.*459T>A)
c.354T>A (p.Ser118Arg)
c.168T>A (p.Ser56Arg)
c.198T>A (p.Ser66Arg)
n.454T>A
1g.56956807C>ACA340510547C8Bc.*194G>T (n.*194G>T)
c.*458G>T (n.*458G>T)
c.353G>T (p.Ser118Ile)
c.167G>T (p.Ser56Ile)
c.197G>T (p.Ser66Ile)
n.453G>T
1g.56956807C=CA1142284663C8Bc.*194G= (n.*194G=)
c.*458G= (n.*458G=)
c.353G= (p.Ser118=)
c.167G= (p.Ser56=)
c.197G= (p.Ser66=)
n.453G=
1g.56956807C>GCA340510548C8Bc.*194G>C (n.*194G>C)
c.*458G>C (n.*458G>C)
c.353G>C (p.Ser118Thr)
c.167G>C (p.Ser56Thr)
c.197G>C (p.Ser66Thr)
n.453G>C
1g.56956807C>TCA876020C8Bc.*194G>A (n.*194G>A)
c.*458G>A (n.*458G>A)
c.353G>A (p.Ser118Asn)
c.167G>A (p.Ser56Asn)
c.197G>A (p.Ser66Asn)
n.453G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.56956808T>ACA876021C8Bc.*193A>T (n.*193A>T)
c.*457A>T (n.*457A>T)
c.352A>T (p.Ser118Cys)
c.166A>T (p.Ser56Cys)
c.196A>T (p.Ser66Cys)
n.452A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.56956808T>CCA340510549C8Bc.*193A>G (n.*193A>G)
c.*457A>G (n.*457A>G)
c.352A>G (p.Ser118Gly)
c.166A>G (p.Ser56Gly)
c.196A>G (p.Ser66Gly)
n.452A>G
1g.56956808T>GCA340510550C8Bc.*193A>C (n.*193A>C)
c.*457A>C (n.*457A>C)
c.352A>C (p.Ser118Arg)
c.166A>C (p.Ser56Arg)
c.196A>C (p.Ser66Arg)
n.452A>C
1g.56956808T=CA1143372285C8Bc.*193A= (n.*193A=)
c.*457A= (n.*457A=)
c.352A= (p.Ser118=)
c.166A= (p.Ser56=)
c.196A= (p.Ser66=)
n.452A=
1g.56956809T>ACA417968622C8Bc.*192A>T (n.*192A>T)
c.*456A>T (n.*456A>T)
c.351A>T (p.Gly117=)
c.165A>T (p.Gly55=)
c.195A>T (p.Gly65=)
c.351A>T (p.Arg117Ser)
c.195A>T (p.Arg65Ser)
c.165A>T (p.Arg55Ser)
n.451A>T
 dbSNP gnomAD v2 gnomAD v4
1g.56956809T>CCA417968624C8Bc.*192A>G (n.*192A>G)
c.*456A>G (n.*456A>G)
c.351A>G (p.Gly117=)
c.165A>G (p.Gly55=)
c.195A>G (p.Gly65=)
c.351A>G (p.Arg117=)
c.195A>G (p.Arg65=)
c.165A>G (p.Arg55=)
n.451A>G
1g.56956809T>GCA417968627C8Bc.*192A>C (n.*192A>C)
c.*456A>C (n.*456A>C)
c.351A>C (p.Gly117=)
c.165A>C (p.Gly55=)
c.195A>C (p.Gly65=)
c.351A>C (p.Arg117Ser)
c.195A>C (p.Arg65Ser)
c.165A>C (p.Arg55Ser)
n.451A>C
1g.56956809T=CA1168786769C8Bc.*192A= (n.*192A=)
c.*456A= (n.*456A=)
c.351A= (p.Gly117=)
c.165A= (p.Gly55=)
c.195A= (p.Gly65=)
c.351A= (p.Arg117=)
c.195A= (p.Arg65=)
c.165A= (p.Arg55=)
n.451A=
1g.56956810C>ACA340510551C8Bc.*191G>T (n.*191G>T)
c.*455G>T (n.*455G>T)
c.350G>T (p.Gly117Val)
c.164G>T (p.Gly55Val)
c.194G>T (p.Gly65Val)
c.350G>T (p.Arg117Ile)
c.194G>T (p.Arg65Ile)
c.164G>T (p.Arg55Ile)
n.450G>T
1g.56956810C>GCA340510552C8Bc.*191G>C (n.*191G>C)
c.*455G>C (n.*455G>C)
c.350G>C (p.Gly117Ala)
c.164G>C (p.Gly55Ala)
c.194G>C (p.Gly65Ala)
c.350G>C (p.Arg117Thr)
c.194G>C (p.Arg65Thr)
c.164G>C (p.Arg55Thr)
n.450G>C
1g.56956810C>TCA340510553C8Bc.*191G>A (n.*191G>A)
c.*455G>A (n.*455G>A)
c.350G>A (p.Gly117Glu)
c.164G>A (p.Gly55Glu)
c.194G>A (p.Gly65Glu)
c.350G>A (p.Arg117Lys)
c.194G>A (p.Arg65Lys)
c.164G>A (p.Arg55Lys)
n.450G>A
 ClinVar gnomAD v4
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=

Number of alleles fetched