Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.136055770C>T | CA3420427 | TGFBI | c.1501C>T (p.Pro501Ser) n.2018C>T c.1479C>T c.416C>T n.272C>T c.653C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136055770C>G | CA3420426 | TGFBI | c.1501C>G (p.Pro501Ala) n.2018C>G c.1479C>G c.416C>G n.272C>G c.653C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.136055770C>A | CA119123 | TGFBI | c.1501C>A (p.Pro501Thr) n.2018C>A c.1479C>A c.416C>A n.272C>A c.653C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |