| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.63066056G>A | CA120139 | TTPA | c.400C>T (p.Arg134Ter) n.233-17453C>T c.205-1740C>T (n.205-1740C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63066056G>T | CA461144428 | TTPA | c.400C>A (p.Arg134=) n.233-17453C>A c.205-1740C>A (n.205-1740C>A) | ClinVar dbSNP |
| 8 | g.63066056G>C | CA371332888 | TTPA | c.400C>G (p.Arg134Gly) n.233-17453C>G c.205-1740C>G (n.205-1740C>G) | dbSNP |
| 8 | g.63066056G= | CA1788935381 | TTPA | c.400C= (p.Arg134=) n.233-17453C= c.205-1740C= (n.205-1740C=) | dbSNP |