| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.169726729G>A | CA1235992 | FIRRM,SELE | c.1723C>T (p.Leu575Phe) c.1345C>T (p.Leu449Phe) c.1348C>T (p.Leu450Phe) c.1534C>T (p.Leu512Phe) n.851+42797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169726729G>T | CA343147789 | FIRRM,SELE | c.1723C>A (p.Leu575Ile) c.1345C>A (p.Leu449Ile) c.1348C>A (p.Leu450Ile) c.1534C>A (p.Leu512Ile) n.851+42797G>T | dbSNP COSMIC |
| 1 | g.169726729G= | CA1139772962 | FIRRM,SELE | c.1723C= (p.Leu575=) c.1345C= (p.Leu449=) c.1348C= (p.Leu450=) c.1534C= (p.Leu512=) n.851+42797G= | dbSNP |
| 1 | g.169726729G>C | CA343147791 | FIRRM,SELE | c.1723C>G (p.Leu575Val) c.1345C>G (p.Leu449Val) c.1348C>G (p.Leu450Val) c.1534C>G (p.Leu512Val) n.851+42797G>C | dbSNP |