| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.139551223G>C | CA121130 | F9 | c.682G>C (p.Val228Leu) n.1349G>C c.568G>C (p.Val190Leu) c.553G>C (p.Val185Leu) | ClinVar dbSNP |
| X | g.139551223G>A | CA414441149 | F9 | c.682G>A (p.Val228Ile) n.1349G>A c.568G>A (p.Val190Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.139551223G>T | CA255355 | F9 | c.682G>T (p.Val228Phe) n.1349G>T c.568G>T (p.Val190Phe) c.553G>T (p.Val185Phe) | ClinVar dbSNP |