| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980987del | CA263251 | SLC26A2 | c.1394del (p.Leu465CysfsTer5) c.372+2636del (n.372+2636del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980986_149980987del | CA2573139278 | SLC26A2 | c.1393_1394del (p.Leu465ValfsTer?) c.372+2635_372+2636del (n.372+2635_372+2636del) | ClinVar dbSNP gnomAD v4 |