Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97515839T>ACA341378387DPYDc.1627A>T (p.Ile543Leu)
c.1524+33721A>T (n.1524+33721A>T)
c.1516A>T (p.Ile506Leu)
c.1132A>T (p.Ile378Leu)
dbSNP
1g.97515839T>CCA200992DPYDc.1627A>G (p.Ile543Val)
c.1524+33721A>G (n.1524+33721A>G)
c.1516A>G (p.Ile506Val)
c.1132A>G (p.Ile378Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97515839T>GCA341378388DPYDc.1627A>C (p.Ile543Leu)
c.1524+33721A>C (n.1524+33721A>C)
c.1516A>C (p.Ile506Leu)
c.1132A>C (p.Ile378Leu)
dbSNP

Number of alleles fetched