Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43119680A>TCA376556517RETc.2146A>T (p.Met716Leu)
n.2116A>T
n.2107A>T
c.2542A>T (p.Met848Leu)
c.*1136A>T (n.*1136A>T)
c.1290-22A>T (n.1290-22A>T)
c.1780A>T (p.Met594Leu)
ClinVar dbSNP gnomAD v4
10g.43119680A>GCA008898RETc.2146A>G (p.Met716Val)
n.2116A>G
n.2107A>G
c.2542A>G (p.Met848Val)
c.*1136A>G (n.*1136A>G)
c.1290-22A>G (n.1290-22A>G)
c.1780A>G (p.Met594Val)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched