Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.54728095A>C | CA356908753 | KIT | c.1955A>C (p.Asn652Thr) n.2042A>C c.1952A>C (p.Asn651Thr) c.1967A>C (p.Asn656Thr) n.2379A>C n.2122A>C c.1454A>C (p.Asn485Thr) n.2182A>C n.874A>C c.1964A>C (p.Asn655Thr) n.2061A>C | dbSNP |
4 | g.54728095A>T | CA356908752 | KIT | c.1955A>T (p.Asn652Ile) n.2042A>T c.1952A>T (p.Asn651Ile) c.1967A>T (p.Asn656Ile) n.2379A>T n.2122A>T c.1454A>T (p.Asn485Ile) n.2182A>T n.874A>T c.1964A>T (p.Asn655Ile) n.2061A>T | dbSNP gnomAD v4 |
4 | g.54728095A>G | CA16602403 | KIT | c.1955A>G (p.Asn652Ser) n.2042A>G c.1952A>G (p.Asn651Ser) c.1967A>G (p.Asn656Ser) n.2379A>G n.2122A>G c.1454A>G (p.Asn485Ser) n.2182A>G n.874A>G c.1964A>G (p.Asn655Ser) n.2061A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |