| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980613_149980615del | CA259846 | SLC26A2 | c.1020_1022del (p.Val341del) c.372+2262_372+2264del (n.372+2262_372+2264del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980613_149980615dup | CA917608031 | SLC26A2 | c.1020_1022dup (p.Val341_Ala342insVal) c.372+2262_372+2264dup (n.372+2262_372+2264dup) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980610_149980615del | CA3505368 | SLC26A2 | c.1017_1022del (p.Val340_Val341del) c.372+2259_372+2264del (n.372+2259_372+2264del) | dbSNP ExAC gnomAD v2 gnomAD v4 |