| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.63072990A>C | CA120135 | TTPA | c.303T>G (p.His101Gln) n.232+12828T>G c.205-8674T>G (n.205-8674T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.63072990A>G | CA461144496 | TTPA | c.303T>C (p.His101=) n.232+12828T>C c.205-8674T>C (n.205-8674T>C) | dbSNP gnomAD v4 |
| 8 | g.63072990A>T | CA371333762 | TTPA | c.303T>A (p.His101Gln) n.232+12828T>A c.205-8674T>A (n.205-8674T>A) | dbSNP |
| 8 | g.63072990A= | CA1788938331 | TTPA | c.303T= (p.His101=) n.232+12828T= c.205-8674T= (n.205-8674T=) | dbSNP |