Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67940375A=CA2229563332LCATc.852T= (p.Pro284=)
c.156-301T=
c.636T= (p.Pro212=)
c.590T= (n.590T=)
16g.67940375A>CCA496384008LCATc.852T>G (p.Pro284=)
c.156-301T>G
c.636T>G (p.Pro212=)
c.590T>G (n.590T>G)
16g.67940375A>GCA8120945LCATc.852T>C (p.Pro284=)
c.156-301T>C
c.636T>C (p.Pro212=)
c.590T>C (n.590T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940375A>TCA496384009LCATc.852T>A (p.Pro284=)
c.156-301T>A
c.636T>A (p.Pro212=)
c.590T>A (n.590T>A)
16g.67940376G>ACA396376218LCATc.851C>T (p.Pro284Leu)
c.156-302C>T
c.635C>T (p.Pro212Leu)
c.589C>T (n.589C>T)
16g.67940376G>CCA396376219LCATc.851C>G (p.Pro284Arg)
c.156-302C>G
c.635C>G (p.Pro212Arg)
c.589C>G (n.589C>G)
16g.67940376G>TCA396376220LCATc.851C>A (p.Pro284His)
c.156-302C>A
c.635C>A (p.Pro212His)
c.589C>A (n.589C>A)
16g.67940377G>ACA396376221LCATc.850C>T (p.Pro284Ser)
c.156-303C>T
c.634C>T (p.Pro212Ser)
c.588C>T (n.588C>T)
16g.67940377G>CCA396376222LCATc.850C>G (p.Pro284Ala)
c.156-303C>G
c.634C>G (p.Pro212Ala)
c.588C>G (n.588C>G)
16g.67940377G>TCA396376223LCATc.850C>A (p.Pro284Thr)
c.156-303C>A
c.634C>A (p.Pro212Thr)
c.588C>A (n.588C>A)
16g.67940378C>ACA396376224LCATc.849G>T (p.Trp283Cys)
c.156-304G>T
c.633G>T (p.Trp211Cys)
c.587G>T (n.587G>T)
16g.67940378C>GCA396376225LCATc.849G>C (p.Trp283Cys)
c.156-304G>C
c.633G>C (p.Trp211Cys)
c.587G>C (n.587G>C)
16g.67940378C>TCA396376226LCATc.849G>A (p.Trp283Ter)
c.156-304G>A
c.633G>A (p.Trp211Ter)
c.587G>A (n.587G>A)
 ClinVar
16g.67940379C>ACA396376227LCATc.848G>T (p.Trp283Leu)
c.156-305G>T
c.632G>T (p.Trp211Leu)
c.586G>T (n.586G>T)
 gnomAD v4
16g.67940379C>GCA396376228LCATc.848G>C (p.Trp283Ser)
c.156-305G>C
c.632G>C (p.Trp211Ser)
c.586G>C (n.586G>C)
16g.67940379C>TCA396376229LCATc.848G>A (p.Trp283Ter)
c.156-305G>A
c.632G>A (p.Trp211Ter)
c.586G>A (n.586G>A)
16g.67940380delCA2576033452LCATc.847del (p.Trp283GlyfsTer?)
c.156-306del
c.631del (p.Trp211GlyfsTer?)
c.585del (n.585del)
16g.67940380A>CCA396376232LCATc.847T>G (p.Trp283Gly)
c.156-306T>G
c.631T>G (p.Trp211Gly)
c.585T>G (n.585T>G)
16g.67940380A>GCA396376230LCATc.847T>C (p.Trp283Arg)
c.156-306T>C
c.631T>C (p.Trp211Arg)
c.585T>C (n.585T>C)
16g.67940380A>TCA396376231LCATc.847T>A (p.Trp283Arg)
c.156-306T>A
c.631T>A (p.Trp211Arg)
c.585T>A (n.585T>A)
16g.67940381C>ACA496384012LCATc.846G>T (p.Ala282=)
c.156-307G>T
c.630G>T (p.Ala210=)
c.584G>T (n.584G>T)
16g.67940381C=CA2229563333LCATc.846G= (p.Ala282=)
c.156-307G=
c.630G= (p.Ala210=)
c.584G= (n.584G=)
16g.67940381C>GCA496384013LCATc.846G>C (p.Ala282=)
c.156-307G>C
c.630G>C (p.Ala210=)
c.584G>C (n.584G>C)
16g.67940381C>TCA8120946LCATc.846G>A (p.Ala282=)
c.156-307G>A
c.630G>A (p.Ala210=)
c.584G>A (n.584G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940382G>ACA396376233LCATc.845C>T (p.Ala282Val)
c.156-308C>T
c.629C>T (p.Ala210Val)
c.583C>T (n.583C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.67940382G>CCA396376234LCATc.845C>G (p.Ala282Gly)
c.156-308C>G
c.629C>G (p.Ala210Gly)
c.583C>G (n.583C>G)
16g.67940382G=CA2229563334LCATc.845C= (p.Ala282=)
c.156-308C=
c.629C= (p.Ala210=)
c.583C= (n.583C=)
16g.67940382G>TCA396376235LCATc.845C>A (p.Ala282Glu)
c.156-308C>A
c.629C>A (p.Ala210Glu)
c.583C>A (n.583C>A)
16g.67940383C>ACA396376236LCATc.844G>T (p.Ala282Ser)
c.156-309G>T
c.628G>T (p.Ala210Ser)
c.582G>T (n.582G>T)
16g.67940383C>GCA396376237LCATc.844G>C (p.Ala282Pro)
c.156-309G>C
c.628G>C (p.Ala210Pro)
c.582G>C (n.582G>C)
16g.67940383C>TCA396376238LCATc.844G>A (p.Ala282Thr)
c.156-309G>A
c.628G>A (p.Ala210Thr)
c.582G>A (n.582G>A)
16g.67940384C>ACA396376239LCATc.843G>T (p.Met281Ile)
c.156-310G>T
c.627G>T (p.Met209Ile)
c.581G>T (n.581G>T)
16g.67940384C>GCA396376240LCATc.843G>C (p.Met281Ile)
c.156-310G>C
c.627G>C (p.Met209Ile)
c.581G>C (n.581G>C)
16g.67940384C>TCA396376241LCATc.843G>A (p.Met281Ile)
c.156-310G>A
c.627G>A (p.Met209Ile)
c.581G>A (n.581G>A)
 gnomAD v4
16g.67940385A>CCA396376242LCATc.842T>G (p.Met281Arg)
c.156-311T>G
c.626T>G (p.Met209Arg)
c.580T>G (n.580T>G)
16g.67940385A>GCA396376243LCATc.842T>C (p.Met281Thr)
c.156-311T>C
c.626T>C (p.Met209Thr)
c.580T>C (n.580T>C)
 gnomAD v4
16g.67940385A>TCA396376244LCATc.842T>A (p.Met281Lys)
c.156-311T>A
c.626T>A (p.Met209Lys)
c.580T>A (n.580T>A)
16g.67940386T>ACA396376246LCATc.841A>T (p.Met281Leu)
c.156-312A>T
c.625A>T (p.Met209Leu)
c.579A>T (n.579A>T)
16g.67940386T>CCA8120947LCATc.841A>G (p.Met281Val)
c.156-312A>G
c.625A>G (p.Met209Val)
c.579A>G (n.579A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940386T>GCA396376245LCATc.841A>C (p.Met281Leu)
c.156-312A>C
c.625A>C (p.Met209Leu)
c.579A>C (n.579A>C)
16g.67940386T=CA2229563335LCATc.841A= (p.Met281=)
c.156-312A=
c.625A= (p.Met209=)
c.579A= (n.579A=)
16g.67940387G>ACA283160990LCATc.840C>T (p.Arg280=)
c.156-313C>T
c.624C>T (p.Arg208=)
c.578C>T (n.578C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940387G>CCA496384017LCATc.840C>G (p.Arg280=)
c.156-313C>G
c.624C>G (p.Arg208=)
c.578C>G (n.578C>G)
16g.67940387G=CA2229563336LCATc.840C= (p.Arg280=)
c.156-313C=
c.624C= (p.Arg208=)
c.578C= (n.578C=)
16g.67940387G>TCA496384018LCATc.840C>A (p.Arg280=)
c.156-313C>A
c.624C>A (p.Arg208=)
c.578C>A (n.578C>A)
16g.67940388C>ACA396376247LCATc.839G>T (p.Arg280Leu)
c.156-314G>T
c.623G>T (p.Arg208Leu)
c.577G>T (n.577G>T)
16g.67940388C=CA2229563337LCATc.839G= (p.Arg280=)
c.156-314G=
c.623G= (p.Arg208=)
c.577G= (n.577G=)
16g.67940388C>GCA396376248LCATc.839G>C (p.Arg280Pro)
c.156-314G>C
c.623G>C (p.Arg208Pro)
c.577G>C (n.577G>C)
 gnomAD v4
16g.67940388C>TCA8120948LCATc.839G>A (p.Arg280His)
c.156-314G>A
c.623G>A (p.Arg208His)
c.577G>A (n.577G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940389G>ACA8120949LCATc.838C>T (p.Arg280Cys)
c.156-315C>T
c.622C>T (p.Arg208Cys)
c.576C>T (n.576C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched