| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672350C>T | CA020628 | TGFBR2 | c.1167C>T (p.Asn389=) n.2763C>T c.1242C>T (p.Asn414=) c.1194C>T (p.Asn398=) c.1119C>T (p.Asn373=) c.1062C>T (p.Asn354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672350C>G | CA351808679 | TGFBR2 | c.1167C>G (p.Asn389Lys) n.2763C>G c.1242C>G (p.Asn414Lys) c.1194C>G (p.Asn398Lys) c.1119C>G (p.Asn373Lys) c.1062C>G (p.Asn354Lys) | ClinVar dbSNP |
| 3 | g.30672350C= | CA1354873255 | TGFBR2 | c.1167C= (p.Asn389=) n.2763C= c.1242C= (p.Asn414=) c.1194C= (p.Asn398=) c.1119C= (p.Asn373=) c.1062C= (p.Asn354=) | dbSNP |