| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.6318562C>T | CA3624780 | F13A1 | c.103G>A (p.Val35Met) c.265G>A (p.Val89Met) c.177G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6318562C>A | CA126636 | F13A1 | c.103G>T (p.Val35Leu) c.265G>T (p.Val89Leu) c.177G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6318562C= | CA1608030332 | F13A1 | c.103G= (p.Val35=) c.265G= (p.Val89=) c.177G= | dbSNP |
| 6 | g.6318562C>G | CA362740542 | F13A1 | c.103G>C (p.Val35Leu) c.265G>C (p.Val89Leu) c.177G>C | dbSNP |