| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.130828276C>G | CA1663801352 | EPB41L2,SMLR1 | c.238+625C>G (n.238+625C>G) n.4762G>C n.4523G>C | dbSNP |
| 6 | g.130828276C>T | CA15474761 | EPB41L2,SMLR1 | c.238+625C>T (n.238+625C>T) n.4762G>A n.4523G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |