Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112838985C>ACA16028761APCc.3056C>A (n.3056C>A)
c.3445C>A (p.Gln1149Lys)
c.*3397C>A (n.*3397C>A)
c.3337C>A (p.Gln1113Lys)
c.3391C>A (p.Gln1131Lys)
c.1744C>A
c.*2713C>A (n.*2713C>A)
c.230+10013C>A
c.3421C>A (p.Gln1141Lys)
c.3316C>A (p.Gln1106Lys)
c.3307C>A (p.Gln1103Lys)
c.3268C>A (p.Gln1090Lys)
c.3214C>A (p.Gln1072Lys)
c.3118C>A (p.Gln1040Lys)
c.3088C>A (p.Gln1030Lys)
c.3013C>A (p.Gln1005Lys)
c.2911C>A (p.Gln971Lys)
c.2542C>A (p.Gln848Lys)
dbSNP
5g.112838985C>TCA10582307APCc.3056C>T (n.3056C>T)
c.3445C>T (p.Gln1149Ter)
c.*3397C>T (n.*3397C>T)
c.3337C>T (p.Gln1113Ter)
c.3391C>T (p.Gln1131Ter)
c.1744C>T
c.*2713C>T (n.*2713C>T)
c.230+10013C>T
c.3421C>T (p.Gln1141Ter)
c.3316C>T (p.Gln1106Ter)
c.3307C>T (p.Gln1103Ter)
c.3268C>T (p.Gln1090Ter)
c.3214C>T (p.Gln1072Ter)
c.3118C>T (p.Gln1040Ter)
c.3088C>T (p.Gln1030Ter)
c.3013C>T (p.Gln1005Ter)
c.2911C>T (p.Gln971Ter)
c.2542C>T (p.Gln848Ter)
ClinVar dbSNP COSMIC

Number of alleles fetched