| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.63064294C>T | CA120138 | TTPA | c.575G>A (p.Arg192His) n.233-15691G>A c.227G>A (p.Arg76His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.63064294C>G | CA371332215 | TTPA | c.575G>C (p.Arg192Pro) n.233-15691G>C c.227G>C (p.Arg76Pro) | dbSNP |
| 8 | g.63064294C= | CA1788934625 | TTPA | c.575G= (p.Arg192=) n.233-15691G= c.227G= (p.Arg76=) | dbSNP |