Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43120120G>ACA008975RETc.2251G>A (p.Ala751Thr)
n.2221G>A
n.2212G>A
c.2647G>A (p.Ala883Thr)
c.*1241G>A (n.*1241G>A)
c.1373G>A (p.Ser458Asn)
c.1885G>A (p.Ala629Thr)
ClinVar dbSNP gnomAD v4
10g.43120120G>CCA376557140RETc.2251G>C (p.Ala751Pro)
n.2221G>C
n.2212G>C
c.2647G>C (p.Ala883Pro)
c.*1241G>C (n.*1241G>C)
c.1373G>C (p.Ser458Thr)
c.1885G>C (p.Ala629Pro)
ClinVar dbSNP
10g.43120120G>TCA376557141RETc.2251G>T (p.Ala751Ser)
n.2221G>T
n.2212G>T
c.2647G>T (p.Ala883Ser)
c.*1241G>T (n.*1241G>T)
c.1373G>T (p.Ser458Ile)
c.1885G>T (p.Ala629Ser)
dbSNP gnomAD v4 COSMIC COSMIC

Number of alleles fetched