Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.74047691delCA2739266463ELNc.660del (p.Tyr221ThrfsTer?)
c.578-451del (n.578-451del)
c.675del (p.Tyr226ThrfsTer?)
c.335-451del (n.335-451del)
c.630del (p.Tyr211ThrfsTer?)
c.644-451del (n.644-451del)
c.645del (p.Tyr216ThrfsTer?)
c.558del (p.Tyr187ThrfsTer?)
c.414del (p.Tyr139ThrfsTer?)
c.269-451del (n.269-451del)
c.594del (p.Tyr199ThrfsTer?)
n.544del
n.126del
c.528del (p.Tyr177ThrfsTer?)
c.624del (p.Tyr209ThrfsTer?)
c.639del (p.Tyr214ThrfsTer?)
c.659-451del (n.659-451del)
c.609del (p.Tyr204ThrfsTer?)
c.614-451del (n.614-451del)
 ClinVar
7g.74047690C>ACA367870390ELNc.659C>A (p.Pro220His)
c.578-452C>A (n.578-452C>A)
c.674C>A (p.Pro225His)
c.335-452C>A (n.335-452C>A)
c.629C>A (p.Pro210His)
c.644-452C>A (n.644-452C>A)
c.644C>A (p.Pro215His)
c.557C>A (p.Pro186His)
c.413C>A (p.Pro138His)
c.269-452C>A (n.269-452C>A)
c.593C>A (p.Pro198His)
n.543C>A
n.125C>A
c.527C>A (p.Pro176His)
c.623C>A (p.Pro208His)
c.638C>A (p.Pro213His)
c.659-452C>A (n.659-452C>A)
c.608C>A (p.Pro203His)
c.614-452C>A (n.614-452C>A)
7g.74047690C=CA1717341357ELNc.659C= (p.Pro220=)
c.578-452C= (n.578-452C=)
c.674C= (p.Pro225=)
c.335-452C= (n.335-452C=)
c.629C= (p.Pro210=)
c.644-452C= (n.644-452C=)
c.644C= (p.Pro215=)
c.557C= (p.Pro186=)
c.413C= (p.Pro138=)
c.269-452C= (n.269-452C=)
c.593C= (p.Pro198=)
n.543C=
n.125C=
c.527C= (p.Pro176=)
c.623C= (p.Pro208=)
c.638C= (p.Pro213=)
c.659-452C= (n.659-452C=)
c.608C= (p.Pro203=)
c.614-452C= (n.614-452C=)
7g.74047690C>GCA367870391ELNc.659C>G (p.Pro220Arg)
c.578-452C>G (n.578-452C>G)
c.674C>G (p.Pro225Arg)
c.335-452C>G (n.335-452C>G)
c.629C>G (p.Pro210Arg)
c.644-452C>G (n.644-452C>G)
c.644C>G (p.Pro215Arg)
c.557C>G (p.Pro186Arg)
c.413C>G (p.Pro138Arg)
c.269-452C>G (n.269-452C>G)
c.593C>G (p.Pro198Arg)
n.543C>G
n.125C>G
c.527C>G (p.Pro176Arg)
c.623C>G (p.Pro208Arg)
c.638C>G (p.Pro213Arg)
c.659-452C>G (n.659-452C>G)
c.608C>G (p.Pro203Arg)
c.614-452C>G (n.614-452C>G)
7g.74047690C>TCA322484ELNc.659C>T (p.Pro220Leu)
c.578-452C>T (n.578-452C>T)
c.674C>T (p.Pro225Leu)
c.335-452C>T (n.335-452C>T)
c.629C>T (p.Pro210Leu)
c.644-452C>T (n.644-452C>T)
c.644C>T (p.Pro215Leu)
c.557C>T (p.Pro186Leu)
c.413C>T (p.Pro138Leu)
c.269-452C>T (n.269-452C>T)
c.593C>T (p.Pro198Leu)
n.543C>T
n.125C>T
c.527C>T (p.Pro176Leu)
c.623C>T (p.Pro208Leu)
c.638C>T (p.Pro213Leu)
c.659-452C>T (n.659-452C>T)
c.608C>T (p.Pro203Leu)
c.614-452C>T (n.614-452C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.74047691C>ACA455884263ELNc.660C>A (p.Pro220=)
c.578-451C>A (n.578-451C>A)
c.675C>A (p.Pro225=)
c.335-451C>A (n.335-451C>A)
c.630C>A (p.Pro210=)
c.644-451C>A (n.644-451C>A)
c.645C>A (p.Pro215=)
c.558C>A (p.Pro186=)
c.414C>A (p.Pro138=)
c.269-451C>A (n.269-451C>A)
c.594C>A (p.Pro198=)
n.544C>A
n.126C>A
c.528C>A (p.Pro176=)
c.624C>A (p.Pro208=)
c.639C>A (p.Pro213=)
c.659-451C>A (n.659-451C>A)
c.609C>A (p.Pro203=)
c.614-451C>A (n.614-451C>A)
 COSMIC COSMIC
7g.74047691C>GCA455884265ELNc.660C>G (p.Pro220=)
c.578-451C>G (n.578-451C>G)
c.675C>G (p.Pro225=)
c.335-451C>G (n.335-451C>G)
c.630C>G (p.Pro210=)
c.644-451C>G (n.644-451C>G)
c.645C>G (p.Pro215=)
c.558C>G (p.Pro186=)
c.414C>G (p.Pro138=)
c.269-451C>G (n.269-451C>G)
c.594C>G (p.Pro198=)
n.544C>G
n.126C>G
c.528C>G (p.Pro176=)
c.624C>G (p.Pro208=)
c.639C>G (p.Pro213=)
c.659-451C>G (n.659-451C>G)
c.609C>G (p.Pro203=)
c.614-451C>G (n.614-451C>G)
7g.74047691C>TCA455884267ELNc.660C>T (p.Pro220=)
c.578-451C>T (n.578-451C>T)
c.675C>T (p.Pro225=)
c.335-451C>T (n.335-451C>T)
c.630C>T (p.Pro210=)
c.644-451C>T (n.644-451C>T)
c.645C>T (p.Pro215=)
c.558C>T (p.Pro186=)
c.414C>T (p.Pro138=)
c.269-451C>T (n.269-451C>T)
c.594C>T (p.Pro198=)
n.544C>T
n.126C>T
c.528C>T (p.Pro176=)
c.624C>T (p.Pro208=)
c.639C>T (p.Pro213=)
c.659-451C>T (n.659-451C>T)
c.609C>T (p.Pro203=)
c.614-451C>T (n.614-451C>T)
7g.74047692T>ACA367870392ELNc.661T>A (p.Tyr221Asn)
c.578-450T>A (n.578-450T>A)
c.676T>A (p.Tyr226Asn)
c.335-450T>A (n.335-450T>A)
c.631T>A (p.Tyr211Asn)
c.644-450T>A (n.644-450T>A)
c.646T>A (p.Tyr216Asn)
c.559T>A (p.Tyr187Asn)
c.415T>A (p.Tyr139Asn)
c.269-450T>A (n.269-450T>A)
c.595T>A (p.Tyr199Asn)
n.545T>A
n.127T>A
c.529T>A (p.Tyr177Asn)
c.625T>A (p.Tyr209Asn)
c.640T>A (p.Tyr214Asn)
c.659-450T>A (n.659-450T>A)
c.610T>A (p.Tyr204Asn)
c.614-450T>A (n.614-450T>A)
7g.74047692T>CCA367870393ELNc.661T>C (p.Tyr221His)
c.578-450T>C (n.578-450T>C)
c.676T>C (p.Tyr226His)
c.335-450T>C (n.335-450T>C)
c.631T>C (p.Tyr211His)
c.644-450T>C (n.644-450T>C)
c.646T>C (p.Tyr216His)
c.559T>C (p.Tyr187His)
c.415T>C (p.Tyr139His)
c.269-450T>C (n.269-450T>C)
c.595T>C (p.Tyr199His)
n.545T>C
n.127T>C
c.529T>C (p.Tyr177His)
c.625T>C (p.Tyr209His)
c.640T>C (p.Tyr214His)
c.659-450T>C (n.659-450T>C)
c.610T>C (p.Tyr204His)
c.614-450T>C (n.614-450T>C)
 ClinVar dbSNP gnomAD v4
7g.74047692T>GCA367870394ELNc.661T>G (p.Tyr221Asp)
c.578-450T>G (n.578-450T>G)
c.676T>G (p.Tyr226Asp)
c.335-450T>G (n.335-450T>G)
c.631T>G (p.Tyr211Asp)
c.644-450T>G (n.644-450T>G)
c.646T>G (p.Tyr216Asp)
c.559T>G (p.Tyr187Asp)
c.415T>G (p.Tyr139Asp)
c.269-450T>G (n.269-450T>G)
c.595T>G (p.Tyr199Asp)
n.545T>G
n.127T>G
c.529T>G (p.Tyr177Asp)
c.625T>G (p.Tyr209Asp)
c.640T>G (p.Tyr214Asp)
c.659-450T>G (n.659-450T>G)
c.610T>G (p.Tyr204Asp)
c.614-450T>G (n.614-450T>G)
7g.74047692T=CA1717341358ELNc.661T= (p.Tyr221=)
c.578-450T= (n.578-450T=)
c.676T= (p.Tyr226=)
c.335-450T= (n.335-450T=)
c.631T= (p.Tyr211=)
c.644-450T= (n.644-450T=)
c.646T= (p.Tyr216=)
c.559T= (p.Tyr187=)
c.415T= (p.Tyr139=)
c.269-450T= (n.269-450T=)
c.595T= (p.Tyr199=)
n.545T=
n.127T=
c.529T= (p.Tyr177=)
c.625T= (p.Tyr209=)
c.640T= (p.Tyr214=)
c.659-450T= (n.659-450T=)
c.610T= (p.Tyr204=)
c.614-450T= (n.614-450T=)
7g.74047693A=CA1717341359ELNc.662A= (p.Tyr221=)
c.578-449A= (n.578-449A=)
c.677A= (p.Tyr226=)
c.335-449A= (n.335-449A=)
c.632A= (p.Tyr211=)
c.644-449A= (n.644-449A=)
c.647A= (p.Tyr216=)
c.560A= (p.Tyr187=)
c.416A= (p.Tyr139=)
c.269-449A= (n.269-449A=)
c.596A= (p.Tyr199=)
n.546A=
n.128A=
c.530A= (p.Tyr177=)
c.626A= (p.Tyr209=)
c.641A= (p.Tyr214=)
c.659-449A= (n.659-449A=)
c.611A= (p.Tyr204=)
c.614-449A= (n.614-449A=)
7g.74047693A>CCA367870395ELNc.662A>C (p.Tyr221Ser)
c.578-449A>C (n.578-449A>C)
c.677A>C (p.Tyr226Ser)
c.335-449A>C (n.335-449A>C)
c.632A>C (p.Tyr211Ser)
c.644-449A>C (n.644-449A>C)
c.647A>C (p.Tyr216Ser)
c.560A>C (p.Tyr187Ser)
c.416A>C (p.Tyr139Ser)
c.269-449A>C (n.269-449A>C)
c.596A>C (p.Tyr199Ser)
n.546A>C
n.128A>C
c.530A>C (p.Tyr177Ser)
c.626A>C (p.Tyr209Ser)
c.641A>C (p.Tyr214Ser)
c.659-449A>C (n.659-449A>C)
c.611A>C (p.Tyr204Ser)
c.614-449A>C (n.614-449A>C)
7g.74047693A>GCA367870396ELNc.662A>G (p.Tyr221Cys)
c.578-449A>G (n.578-449A>G)
c.677A>G (p.Tyr226Cys)
c.335-449A>G (n.335-449A>G)
c.632A>G (p.Tyr211Cys)
c.644-449A>G (n.644-449A>G)
c.647A>G (p.Tyr216Cys)
c.560A>G (p.Tyr187Cys)
c.416A>G (p.Tyr139Cys)
c.269-449A>G (n.269-449A>G)
c.596A>G (p.Tyr199Cys)
n.546A>G
n.128A>G
c.530A>G (p.Tyr177Cys)
c.626A>G (p.Tyr209Cys)
c.641A>G (p.Tyr214Cys)
c.659-449A>G (n.659-449A>G)
c.611A>G (p.Tyr204Cys)
c.614-449A>G (n.614-449A>G)
 dbSNP
7g.74047693A>TCA367870397ELNc.662A>T (p.Tyr221Phe)
c.578-449A>T (n.578-449A>T)
c.677A>T (p.Tyr226Phe)
c.335-449A>T (n.335-449A>T)
c.632A>T (p.Tyr211Phe)
c.644-449A>T (n.644-449A>T)
c.647A>T (p.Tyr216Phe)
c.560A>T (p.Tyr187Phe)
c.416A>T (p.Tyr139Phe)
c.269-449A>T (n.269-449A>T)
c.596A>T (p.Tyr199Phe)
n.546A>T
n.128A>T
c.530A>T (p.Tyr177Phe)
c.626A>T (p.Tyr209Phe)
c.641A>T (p.Tyr214Phe)
c.659-449A>T (n.659-449A>T)
c.611A>T (p.Tyr204Phe)
c.614-449A>T (n.614-449A>T)
7g.74047693dupCA2739266464ELNc.662dup (p.Tyr221Ter)
c.578-449dup (n.578-449dup)
c.677dup (p.Tyr226Ter)
c.335-449dup (n.335-449dup)
c.632dup (p.Tyr211Ter)
c.644-449dup (n.644-449dup)
c.647dup (p.Tyr216Ter)
c.560dup (p.Tyr187Ter)
c.416dup (p.Tyr139Ter)
c.269-449dup (n.269-449dup)
c.596dup (p.Tyr199Ter)
n.546dup
n.128dup
c.530dup (p.Tyr177Ter)
c.626dup (p.Tyr209Ter)
c.641dup (p.Tyr214Ter)
c.659-449dup (n.659-449dup)
c.611dup (p.Tyr204Ter)
c.614-449dup (n.614-449dup)
 ClinVar
7g.74047694C>ACA367870399ELNc.663C>A (p.Tyr221Ter)
c.578-448C>A (n.578-448C>A)
c.678C>A (p.Tyr226Ter)
c.335-448C>A (n.335-448C>A)
c.633C>A (p.Tyr211Ter)
c.644-448C>A (n.644-448C>A)
c.648C>A (p.Tyr216Ter)
c.561C>A (p.Tyr187Ter)
c.417C>A (p.Tyr139Ter)
c.269-448C>A (n.269-448C>A)
c.597C>A (p.Tyr199Ter)
n.547C>A
n.129C>A
c.531C>A (p.Tyr177Ter)
c.627C>A (p.Tyr209Ter)
c.642C>A (p.Tyr214Ter)
c.659-448C>A (n.659-448C>A)
c.612C>A (p.Tyr204Ter)
c.614-448C>A (n.614-448C>A)
7g.74047694C>GCA367870398ELNc.663C>G (p.Tyr221Ter)
c.578-448C>G (n.578-448C>G)
c.678C>G (p.Tyr226Ter)
c.335-448C>G (n.335-448C>G)
c.633C>G (p.Tyr211Ter)
c.644-448C>G (n.644-448C>G)
c.648C>G (p.Tyr216Ter)
c.561C>G (p.Tyr187Ter)
c.417C>G (p.Tyr139Ter)
c.269-448C>G (n.269-448C>G)
c.597C>G (p.Tyr199Ter)
n.547C>G
n.129C>G
c.531C>G (p.Tyr177Ter)
c.627C>G (p.Tyr209Ter)
c.642C>G (p.Tyr214Ter)
c.659-448C>G (n.659-448C>G)
c.612C>G (p.Tyr204Ter)
c.614-448C>G (n.614-448C>G)
7g.74047694C>TCA455884280ELNc.663C>T (p.Tyr221=)
c.578-448C>T (n.578-448C>T)
c.678C>T (p.Tyr226=)
c.335-448C>T (n.335-448C>T)
c.633C>T (p.Tyr211=)
c.644-448C>T (n.644-448C>T)
c.648C>T (p.Tyr216=)
c.561C>T (p.Tyr187=)
c.417C>T (p.Tyr139=)
c.269-448C>T (n.269-448C>T)
c.597C>T (p.Tyr199=)
n.547C>T
n.129C>T
c.531C>T (p.Tyr177=)
c.627C>T (p.Tyr209=)
c.642C>T (p.Tyr214=)
c.659-448C>T (n.659-448C>T)
c.612C>T (p.Tyr204=)
c.614-448C>T (n.614-448C>T)
 gnomAD v4
7g.74047695A>CCA367870400ELNc.664A>C (p.Thr222Pro)
c.578-447A>C (n.578-447A>C)
c.679A>C (p.Thr227Pro)
c.335-447A>C (n.335-447A>C)
c.634A>C (p.Thr212Pro)
c.644-447A>C (n.644-447A>C)
c.649A>C (p.Thr217Pro)
c.562A>C (p.Thr188Pro)
c.418A>C (p.Thr140Pro)
c.269-447A>C (n.269-447A>C)
c.598A>C (p.Thr200Pro)
n.548A>C
n.130A>C
c.532A>C (p.Thr178Pro)
c.628A>C (p.Thr210Pro)
c.643A>C (p.Thr215Pro)
c.659-447A>C (n.659-447A>C)
c.613A>C (p.Thr205Pro)
c.614-447A>C (n.614-447A>C)
7g.74047695A>GCA367870401ELNc.664A>G (p.Thr222Ala)
c.578-447A>G (n.578-447A>G)
c.679A>G (p.Thr227Ala)
c.335-447A>G (n.335-447A>G)
c.634A>G (p.Thr212Ala)
c.644-447A>G (n.644-447A>G)
c.649A>G (p.Thr217Ala)
c.562A>G (p.Thr188Ala)
c.418A>G (p.Thr140Ala)
c.269-447A>G (n.269-447A>G)
c.598A>G (p.Thr200Ala)
n.548A>G
n.130A>G
c.532A>G (p.Thr178Ala)
c.628A>G (p.Thr210Ala)
c.643A>G (p.Thr215Ala)
c.659-447A>G (n.659-447A>G)
c.613A>G (p.Thr205Ala)
c.614-447A>G (n.614-447A>G)
 gnomAD v4
7g.74047695A>TCA367870402ELNc.664A>T (p.Thr222Ser)
c.578-447A>T (n.578-447A>T)
c.679A>T (p.Thr227Ser)
c.335-447A>T (n.335-447A>T)
c.634A>T (p.Thr212Ser)
c.644-447A>T (n.644-447A>T)
c.649A>T (p.Thr217Ser)
c.562A>T (p.Thr188Ser)
c.418A>T (p.Thr140Ser)
c.269-447A>T (n.269-447A>T)
c.598A>T (p.Thr200Ser)
n.548A>T
n.130A>T
c.532A>T (p.Thr178Ser)
c.628A>T (p.Thr210Ser)
c.643A>T (p.Thr215Ser)
c.659-447A>T (n.659-447A>T)
c.613A>T (p.Thr205Ser)
c.614-447A>T (n.614-447A>T)
7g.74047696C>ACA367870403ELNc.665C>A (p.Thr222Asn)
c.578-446C>A (n.578-446C>A)
c.680C>A (p.Thr227Asn)
c.335-446C>A (n.335-446C>A)
c.635C>A (p.Thr212Asn)
c.644-446C>A (n.644-446C>A)
c.650C>A (p.Thr217Asn)
c.563C>A (p.Thr188Asn)
c.419C>A (p.Thr140Asn)
c.269-446C>A (n.269-446C>A)
c.599C>A (p.Thr200Asn)
n.549C>A
n.131C>A
c.533C>A (p.Thr178Asn)
c.629C>A (p.Thr210Asn)
c.644C>A (p.Thr215Asn)
c.659-446C>A (n.659-446C>A)
c.614C>A (p.Thr205Asn)
c.614-446C>A (n.614-446C>A)
7g.74047696C=CA1717341360ELNc.665C= (p.Thr222=)
c.578-446C= (n.578-446C=)
c.680C= (p.Thr227=)
c.335-446C= (n.335-446C=)
c.635C= (p.Thr212=)
c.644-446C= (n.644-446C=)
c.650C= (p.Thr217=)
c.563C= (p.Thr188=)
c.419C= (p.Thr140=)
c.269-446C= (n.269-446C=)
c.599C= (p.Thr200=)
n.549C=
n.131C=
c.533C= (p.Thr178=)
c.629C= (p.Thr210=)
c.644C= (p.Thr215=)
c.659-446C= (n.659-446C=)
c.614C= (p.Thr205=)
c.614-446C= (n.614-446C=)
7g.74047696C>GCA367870404ELNc.665C>G (p.Thr222Ser)
c.578-446C>G (n.578-446C>G)
c.680C>G (p.Thr227Ser)
c.335-446C>G (n.335-446C>G)
c.635C>G (p.Thr212Ser)
c.644-446C>G (n.644-446C>G)
c.650C>G (p.Thr217Ser)
c.563C>G (p.Thr188Ser)
c.419C>G (p.Thr140Ser)
c.269-446C>G (n.269-446C>G)
c.599C>G (p.Thr200Ser)
n.549C>G
n.131C>G
c.533C>G (p.Thr178Ser)
c.629C>G (p.Thr210Ser)
c.644C>G (p.Thr215Ser)
c.659-446C>G (n.659-446C>G)
c.614C>G (p.Thr205Ser)
c.614-446C>G (n.614-446C>G)
7g.74047696C>TCA367870405ELNc.665C>T (p.Thr222Ile)
c.578-446C>T (n.578-446C>T)
c.680C>T (p.Thr227Ile)
c.335-446C>T (n.335-446C>T)
c.635C>T (p.Thr212Ile)
c.644-446C>T (n.644-446C>T)
c.650C>T (p.Thr217Ile)
c.563C>T (p.Thr188Ile)
c.419C>T (p.Thr140Ile)
c.269-446C>T (n.269-446C>T)
c.599C>T (p.Thr200Ile)
n.549C>T
n.131C>T
c.533C>T (p.Thr178Ile)
c.629C>T (p.Thr210Ile)
c.644C>T (p.Thr215Ile)
c.659-446C>T (n.659-446C>T)
c.614C>T (p.Thr205Ile)
c.614-446C>T (n.614-446C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.74047697C>ACA455884292ELNc.666C>A (p.Thr222=)
c.578-445C>A (n.578-445C>A)
c.681C>A (p.Thr227=)
c.335-445C>A (n.335-445C>A)
c.636C>A (p.Thr212=)
c.644-445C>A (n.644-445C>A)
c.651C>A (p.Thr217=)
c.564C>A (p.Thr188=)
c.420C>A (p.Thr140=)
c.269-445C>A (n.269-445C>A)
c.600C>A (p.Thr200=)
n.550C>A
n.132C>A
c.534C>A (p.Thr178=)
c.630C>A (p.Thr210=)
c.645C>A (p.Thr215=)
c.659-445C>A (n.659-445C>A)
c.615C>A (p.Thr205=)
c.614-445C>A (n.614-445C>A)
7g.74047697C>GCA455884296ELNc.666C>G (p.Thr222=)
c.578-445C>G (n.578-445C>G)
c.681C>G (p.Thr227=)
c.335-445C>G (n.335-445C>G)
c.636C>G (p.Thr212=)
c.644-445C>G (n.644-445C>G)
c.651C>G (p.Thr217=)
c.564C>G (p.Thr188=)
c.420C>G (p.Thr140=)
c.269-445C>G (n.269-445C>G)
c.600C>G (p.Thr200=)
n.550C>G
n.132C>G
c.534C>G (p.Thr178=)
c.630C>G (p.Thr210=)
c.645C>G (p.Thr215=)
c.659-445C>G (n.659-445C>G)
c.615C>G (p.Thr205=)
c.614-445C>G (n.614-445C>G)
7g.74047697C>TCA455884293ELNc.666C>T (p.Thr222=)
c.578-445C>T (n.578-445C>T)
c.681C>T (p.Thr227=)
c.335-445C>T (n.335-445C>T)
c.636C>T (p.Thr212=)
c.644-445C>T (n.644-445C>T)
c.651C>T (p.Thr217=)
c.564C>T (p.Thr188=)
c.420C>T (p.Thr140=)
c.269-445C>T (n.269-445C>T)
c.600C>T (p.Thr200=)
n.550C>T
n.132C>T
c.534C>T (p.Thr178=)
c.630C>T (p.Thr210=)
c.645C>T (p.Thr215=)
c.659-445C>T (n.659-445C>T)
c.615C>T (p.Thr205=)
c.614-445C>T (n.614-445C>T)
7g.74047698A=CA1717341361ELNc.667A= (p.Thr223=)
c.578-444A= (n.578-444A=)
c.682A= (p.Thr228=)
c.335-444A= (n.335-444A=)
c.637A= (p.Thr213=)
c.644-444A= (n.644-444A=)
c.652A= (p.Thr218=)
c.565A= (p.Thr189=)
c.421A= (p.Thr141=)
c.269-444A= (n.269-444A=)
c.601A= (p.Thr201=)
n.551A=
n.133A=
c.535A= (p.Thr179=)
c.631A= (p.Thr211=)
c.646A= (p.Thr216=)
c.659-444A= (n.659-444A=)
c.616A= (p.Thr206=)
c.614-444A= (n.614-444A=)
7g.74047698A>CCA367870406ELNc.667A>C (p.Thr223Pro)
c.578-444A>C (n.578-444A>C)
c.682A>C (p.Thr228Pro)
c.335-444A>C (n.335-444A>C)
c.637A>C (p.Thr213Pro)
c.644-444A>C (n.644-444A>C)
c.652A>C (p.Thr218Pro)
c.565A>C (p.Thr189Pro)
c.421A>C (p.Thr141Pro)
c.269-444A>C (n.269-444A>C)
c.601A>C (p.Thr201Pro)
n.551A>C
n.133A>C
c.535A>C (p.Thr179Pro)
c.631A>C (p.Thr211Pro)
c.646A>C (p.Thr216Pro)
c.659-444A>C (n.659-444A>C)
c.616A>C (p.Thr206Pro)
c.614-444A>C (n.614-444A>C)
7g.74047698A>GCA367870407ELNc.667A>G (p.Thr223Ala)
c.578-444A>G (n.578-444A>G)
c.682A>G (p.Thr228Ala)
c.335-444A>G (n.335-444A>G)
c.637A>G (p.Thr213Ala)
c.644-444A>G (n.644-444A>G)
c.652A>G (p.Thr218Ala)
c.565A>G (p.Thr189Ala)
c.421A>G (p.Thr141Ala)
c.269-444A>G (n.269-444A>G)
c.601A>G (p.Thr201Ala)
n.551A>G
n.133A>G
c.535A>G (p.Thr179Ala)
c.631A>G (p.Thr211Ala)
c.646A>G (p.Thr216Ala)
c.659-444A>G (n.659-444A>G)
c.616A>G (p.Thr206Ala)
c.614-444A>G (n.614-444A>G)
 dbSNP gnomAD v2 gnomAD v4
7g.74047698A>TCA367870408ELNc.667A>T (p.Thr223Ser)
c.578-444A>T (n.578-444A>T)
c.682A>T (p.Thr228Ser)
c.335-444A>T (n.335-444A>T)
c.637A>T (p.Thr213Ser)
c.644-444A>T (n.644-444A>T)
c.652A>T (p.Thr218Ser)
c.565A>T (p.Thr189Ser)
c.421A>T (p.Thr141Ser)
c.269-444A>T (n.269-444A>T)
c.601A>T (p.Thr201Ser)
n.551A>T
n.133A>T
c.535A>T (p.Thr179Ser)
c.631A>T (p.Thr211Ser)
c.646A>T (p.Thr216Ser)
c.659-444A>T (n.659-444A>T)
c.616A>T (p.Thr206Ser)
c.614-444A>T (n.614-444A>T)
7g.74047699C>ACA367870409ELNc.668C>A (p.Thr223Lys)
c.578-443C>A (n.578-443C>A)
c.683C>A (p.Thr228Lys)
c.335-443C>A (n.335-443C>A)
c.638C>A (p.Thr213Lys)
c.644-443C>A (n.644-443C>A)
c.653C>A (p.Thr218Lys)
c.566C>A (p.Thr189Lys)
c.422C>A (p.Thr141Lys)
c.269-443C>A (n.269-443C>A)
c.602C>A (p.Thr201Lys)
n.552C>A
n.134C>A
c.536C>A (p.Thr179Lys)
c.632C>A (p.Thr211Lys)
c.647C>A (p.Thr216Lys)
c.659-443C>A (n.659-443C>A)
c.617C>A (p.Thr206Lys)
c.614-443C>A (n.614-443C>A)
 gnomAD v4
7g.74047699C>GCA367870410ELNc.668C>G (p.Thr223Arg)
c.578-443C>G (n.578-443C>G)
c.683C>G (p.Thr228Arg)
c.335-443C>G (n.335-443C>G)
c.638C>G (p.Thr213Arg)
c.644-443C>G (n.644-443C>G)
c.653C>G (p.Thr218Arg)
c.566C>G (p.Thr189Arg)
c.422C>G (p.Thr141Arg)
c.269-443C>G (n.269-443C>G)
c.602C>G (p.Thr201Arg)
n.552C>G
n.134C>G
c.536C>G (p.Thr179Arg)
c.632C>G (p.Thr211Arg)
c.647C>G (p.Thr216Arg)
c.659-443C>G (n.659-443C>G)
c.617C>G (p.Thr206Arg)
c.614-443C>G (n.614-443C>G)
7g.74047699C>TCA367870411ELNc.668C>T (p.Thr223Ile)
c.578-443C>T (n.578-443C>T)
c.683C>T (p.Thr228Ile)
c.335-443C>T (n.335-443C>T)
c.638C>T (p.Thr213Ile)
c.644-443C>T (n.644-443C>T)
c.653C>T (p.Thr218Ile)
c.566C>T (p.Thr189Ile)
c.422C>T (p.Thr141Ile)
c.269-443C>T (n.269-443C>T)
c.602C>T (p.Thr201Ile)
n.552C>T
n.134C>T
c.536C>T (p.Thr179Ile)
c.632C>T (p.Thr211Ile)
c.647C>T (p.Thr216Ile)
c.659-443C>T (n.659-443C>T)
c.617C>T (p.Thr206Ile)
c.614-443C>T (n.614-443C>T)
7g.74047700A>CCA455884311ELNc.669A>C (p.Thr223=)
c.578-442A>C (n.578-442A>C)
c.684A>C (p.Thr228=)
c.335-442A>C (n.335-442A>C)
c.639A>C (p.Thr213=)
c.644-442A>C (n.644-442A>C)
c.654A>C (p.Thr218=)
c.567A>C (p.Thr189=)
c.423A>C (p.Thr141=)
c.269-442A>C (n.269-442A>C)
c.603A>C (p.Thr201=)
n.553A>C
n.135A>C
c.537A>C (p.Thr179=)
c.633A>C (p.Thr211=)
c.648A>C (p.Thr216=)
c.659-442A>C (n.659-442A>C)
c.618A>C (p.Thr206=)
c.614-442A>C (n.614-442A>C)
7g.74047700A>GCA455884309ELNc.669A>G (p.Thr223=)
c.578-442A>G (n.578-442A>G)
c.684A>G (p.Thr228=)
c.335-442A>G (n.335-442A>G)
c.639A>G (p.Thr213=)
c.644-442A>G (n.644-442A>G)
c.654A>G (p.Thr218=)
c.567A>G (p.Thr189=)
c.423A>G (p.Thr141=)
c.269-442A>G (n.269-442A>G)
c.603A>G (p.Thr201=)
n.553A>G
n.135A>G
c.537A>G (p.Thr179=)
c.633A>G (p.Thr211=)
c.648A>G (p.Thr216=)
c.659-442A>G (n.659-442A>G)
c.618A>G (p.Thr206=)
c.614-442A>G (n.614-442A>G)
7g.74047700A>TCA455884307ELNc.669A>T (p.Thr223=)
c.578-442A>T (n.578-442A>T)
c.684A>T (p.Thr228=)
c.335-442A>T (n.335-442A>T)
c.639A>T (p.Thr213=)
c.644-442A>T (n.644-442A>T)
c.654A>T (p.Thr218=)
c.567A>T (p.Thr189=)
c.423A>T (p.Thr141=)
c.269-442A>T (n.269-442A>T)
c.603A>T (p.Thr201=)
n.553A>T
n.135A>T
c.537A>T (p.Thr179=)
c.633A>T (p.Thr211=)
c.648A>T (p.Thr216=)
c.659-442A>T (n.659-442A>T)
c.618A>T (p.Thr206=)
c.614-442A>T (n.614-442A>T)
7g.74047701G>ACA367870413ELNc.670G>A (p.Gly224Arg)
c.578-441G>A (n.578-441G>A)
c.685G>A (p.Gly229Arg)
c.335-441G>A (n.335-441G>A)
c.640G>A (p.Gly214Arg)
c.644-441G>A (n.644-441G>A)
c.655G>A (p.Gly219Arg)
c.568G>A (p.Gly190Arg)
c.424G>A (p.Gly142Arg)
c.269-441G>A (n.269-441G>A)
c.604G>A (p.Gly202Arg)
n.554G>A
n.136G>A
c.538G>A (p.Gly180Arg)
c.634G>A (p.Gly212Arg)
c.649G>A (p.Gly217Arg)
c.659-441G>A (n.659-441G>A)
c.619G>A (p.Gly207Arg)
c.614-441G>A (n.614-441G>A)
7g.74047701G>CCA367870414ELNc.670G>C (p.Gly224Arg)
c.578-441G>C (n.578-441G>C)
c.685G>C (p.Gly229Arg)
c.335-441G>C (n.335-441G>C)
c.640G>C (p.Gly214Arg)
c.644-441G>C (n.644-441G>C)
c.655G>C (p.Gly219Arg)
c.568G>C (p.Gly190Arg)
c.424G>C (p.Gly142Arg)
c.269-441G>C (n.269-441G>C)
c.604G>C (p.Gly202Arg)
n.554G>C
n.136G>C
c.538G>C (p.Gly180Arg)
c.634G>C (p.Gly212Arg)
c.649G>C (p.Gly217Arg)
c.659-441G>C (n.659-441G>C)
c.619G>C (p.Gly207Arg)
c.614-441G>C (n.614-441G>C)
7g.74047701G>TCA367870412ELNc.670G>T (p.Gly224Trp)
c.578-441G>T (n.578-441G>T)
c.685G>T (p.Gly229Trp)
c.335-441G>T (n.335-441G>T)
c.640G>T (p.Gly214Trp)
c.644-441G>T (n.644-441G>T)
c.655G>T (p.Gly219Trp)
c.568G>T (p.Gly190Trp)
c.424G>T (p.Gly142Trp)
c.269-441G>T (n.269-441G>T)
c.604G>T (p.Gly202Trp)
n.554G>T
n.136G>T
c.538G>T (p.Gly180Trp)
c.634G>T (p.Gly212Trp)
c.649G>T (p.Gly217Trp)
c.659-441G>T (n.659-441G>T)
c.619G>T (p.Gly207Trp)
c.614-441G>T (n.614-441G>T)
7g.74047702G>ACA367870415ELNc.671G>A (p.Gly224Glu)
c.578-440G>A (n.578-440G>A)
c.686G>A (p.Gly229Glu)
c.335-440G>A (n.335-440G>A)
c.641G>A (p.Gly214Glu)
c.644-440G>A (n.644-440G>A)
c.656G>A (p.Gly219Glu)
c.569G>A (p.Gly190Glu)
c.425G>A (p.Gly142Glu)
c.269-440G>A (n.269-440G>A)
c.605G>A (p.Gly202Glu)
n.555G>A
n.137G>A
c.539G>A (p.Gly180Glu)
c.635G>A (p.Gly212Glu)
c.650G>A (p.Gly217Glu)
c.659-440G>A (n.659-440G>A)
c.620G>A (p.Gly207Glu)
c.614-440G>A (n.614-440G>A)
 ClinVar dbSNP gnomAD v4
7g.74047702G>CCA367870416ELNc.671G>C (p.Gly224Ala)
c.578-440G>C (n.578-440G>C)
c.686G>C (p.Gly229Ala)
c.335-440G>C (n.335-440G>C)
c.641G>C (p.Gly214Ala)
c.644-440G>C (n.644-440G>C)
c.656G>C (p.Gly219Ala)
c.569G>C (p.Gly190Ala)
c.425G>C (p.Gly142Ala)
c.269-440G>C (n.269-440G>C)
c.605G>C (p.Gly202Ala)
n.555G>C
n.137G>C
c.539G>C (p.Gly180Ala)
c.635G>C (p.Gly212Ala)
c.650G>C (p.Gly217Ala)
c.659-440G>C (n.659-440G>C)
c.620G>C (p.Gly207Ala)
c.614-440G>C (n.614-440G>C)
7g.74047702G=CA1717341362ELNc.671G= (p.Gly224=)
c.578-440G= (n.578-440G=)
c.686G= (p.Gly229=)
c.335-440G= (n.335-440G=)
c.641G= (p.Gly214=)
c.644-440G= (n.644-440G=)
c.656G= (p.Gly219=)
c.569G= (p.Gly190=)
c.425G= (p.Gly142=)
c.269-440G= (n.269-440G=)
c.605G= (p.Gly202=)
n.555G=
n.137G=
c.539G= (p.Gly180=)
c.635G= (p.Gly212=)
c.650G= (p.Gly217=)
c.659-440G= (n.659-440G=)
c.620G= (p.Gly207=)
c.614-440G= (n.614-440G=)
7g.74047702G>TCA367870417ELNc.671G>T (p.Gly224Val)
c.578-440G>T (n.578-440G>T)
c.686G>T (p.Gly229Val)
c.335-440G>T (n.335-440G>T)
c.641G>T (p.Gly214Val)
c.644-440G>T (n.644-440G>T)
c.656G>T (p.Gly219Val)
c.569G>T (p.Gly190Val)
c.425G>T (p.Gly142Val)
c.269-440G>T (n.269-440G>T)
c.605G>T (p.Gly202Val)
n.555G>T
n.137G>T
c.539G>T (p.Gly180Val)
c.635G>T (p.Gly212Val)
c.650G>T (p.Gly217Val)
c.659-440G>T (n.659-440G>T)
c.620G>T (p.Gly207Val)
c.614-440G>T (n.614-440G>T)
7g.74047703G>ACA455884322ELNc.672G>A (p.Gly224=)
c.578-439G>A (n.578-439G>A)
c.687G>A (p.Gly229=)
c.335-439G>A (n.335-439G>A)
c.642G>A (p.Gly214=)
c.644-439G>A (n.644-439G>A)
c.657G>A (p.Gly219=)
c.570G>A (p.Gly190=)
c.426G>A (p.Gly142=)
c.269-439G>A (n.269-439G>A)
c.606G>A (p.Gly202=)
n.556G>A
n.138G>A
c.540G>A (p.Gly180=)
c.636G>A (p.Gly212=)
c.651G>A (p.Gly217=)
c.659-439G>A (n.659-439G>A)
c.621G>A (p.Gly207=)
c.614-439G>A (n.614-439G>A)
 dbSNP gnomAD v3 gnomAD v4
7g.74047703G>CCA455884323ELNc.672G>C (p.Gly224=)
c.578-439G>C (n.578-439G>C)
c.687G>C (p.Gly229=)
c.335-439G>C (n.335-439G>C)
c.642G>C (p.Gly214=)
c.644-439G>C (n.644-439G>C)
c.657G>C (p.Gly219=)
c.570G>C (p.Gly190=)
c.426G>C (p.Gly142=)
c.269-439G>C (n.269-439G>C)
c.606G>C (p.Gly202=)
n.556G>C
n.138G>C
c.540G>C (p.Gly180=)
c.636G>C (p.Gly212=)
c.651G>C (p.Gly217=)
c.659-439G>C (n.659-439G>C)
c.621G>C (p.Gly207=)
c.614-439G>C (n.614-439G>C)
7g.74047703G=CA1717341363ELNc.672G= (p.Gly224=)
c.578-439G= (n.578-439G=)
c.687G= (p.Gly229=)
c.335-439G= (n.335-439G=)
c.642G= (p.Gly214=)
c.644-439G= (n.644-439G=)
c.657G= (p.Gly219=)
c.570G= (p.Gly190=)
c.426G= (p.Gly142=)
c.269-439G= (n.269-439G=)
c.606G= (p.Gly202=)
n.556G=
n.138G=
c.540G= (p.Gly180=)
c.636G= (p.Gly212=)
c.651G= (p.Gly217=)
c.659-439G= (n.659-439G=)
c.621G= (p.Gly207=)
c.614-439G= (n.614-439G=)

Number of alleles fetched