| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.44275505G>T | CA253387 | ALX4 | c.620C>A (p.Ser207Ter) c.98C>A (p.Ser33Ter) | ClinVar dbSNP |
| 11 | g.44275505G>A | CA5955691 | ALX4 | c.620C>T (p.Ser207Leu) c.98C>T (p.Ser33Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.44275505G= | CA1967929134 | ALX4 | c.620C= (p.Ser207=) c.98C= (p.Ser33=) | dbSNP |