Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43126647A>TCA376558421RETc.2716A>T (p.Thr906Ser)
n.2686A>T
c.3112A>T (p.Thr1038Ser)
c.*1706A>T (n.*1706A>T)
c.*461A>T (n.*461A>T)
c.2350A>T (p.Thr784Ser)
ClinVar dbSNP
10g.43126647A>GCA009187RETc.2716A>G (p.Thr906Ala)
n.2686A>G
c.3112A>G (p.Thr1038Ala)
c.*1706A>G (n.*1706A>G)
c.*461A>G (n.*461A>G)
c.2350A>G (p.Thr784Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43126647A>CCA376558420RETc.2716A>C (p.Thr906Pro)
n.2686A>C
c.3112A>C (p.Thr1038Pro)
c.*1706A>C (n.*1706A>C)
c.*461A>C (n.*461A>C)
c.2350A>C (p.Thr784Pro)
dbSNP

Number of alleles fetched