Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112838399C>TCA007819APCc.2470C>T (n.2470C>T)
c.2859C>T (p.Tyr953=)
c.*2811C>T (n.*2811C>T)
c.2751C>T (p.Tyr917=)
c.2805C>T (p.Tyr935=)
c.1158C>T
c.*2127C>T (n.*2127C>T)
c.230+9427C>T
c.2835C>T (p.Tyr945=)
c.2730C>T (p.Tyr910=)
c.2721C>T (p.Tyr907=)
c.2682C>T (p.Tyr894=)
c.2628C>T (p.Tyr876=)
c.2532C>T (p.Tyr844=)
c.2502C>T (p.Tyr834=)
c.2427C>T (p.Tyr809=)
c.2325C>T (p.Tyr775=)
c.1956C>T (p.Tyr652=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112838399C>GCA007811APCc.2470C>G (n.2470C>G)
c.2859C>G (p.Tyr953Ter)
c.*2811C>G (n.*2811C>G)
c.2751C>G (p.Tyr917Ter)
c.2805C>G (p.Tyr935Ter)
c.1158C>G
c.*2127C>G (n.*2127C>G)
c.230+9427C>G
c.2835C>G (p.Tyr945Ter)
c.2730C>G (p.Tyr910Ter)
c.2721C>G (p.Tyr907Ter)
c.2682C>G (p.Tyr894Ter)
c.2628C>G (p.Tyr876Ter)
c.2532C>G (p.Tyr844Ter)
c.2502C>G (p.Tyr834Ter)
c.2427C>G (p.Tyr809Ter)
c.2325C>G (p.Tyr775Ter)
c.1956C>G (p.Tyr652Ter)
ClinVar dbSNP COSMIC
5g.112838399C>ACA007805APCc.2470C>A (n.2470C>A)
c.2859C>A (p.Tyr953Ter)
c.*2811C>A (n.*2811C>A)
c.2751C>A (p.Tyr917Ter)
c.2805C>A (p.Tyr935Ter)
c.1158C>A
c.*2127C>A (n.*2127C>A)
c.230+9427C>A
c.2835C>A (p.Tyr945Ter)
c.2730C>A (p.Tyr910Ter)
c.2721C>A (p.Tyr907Ter)
c.2682C>A (p.Tyr894Ter)
c.2628C>A (p.Tyr876Ter)
c.2532C>A (p.Tyr844Ter)
c.2502C>A (p.Tyr834Ter)
c.2427C>A (p.Tyr809Ter)
c.2325C>A (p.Tyr775Ter)
c.1956C>A (p.Tyr652Ter)
ClinVar dbSNP COSMIC

Number of alleles fetched