| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107786847_107786849dup | CA1732793221 | SLC26A3 | c.951_953dup (p.Val318_Gly319insVal) c.*742_*744dup (n.*742_*744dup) n.229_231dup | dbSNP |
| 7 | g.107786847_107786849del | CA126850 | SLC26A3 | c.951_953del (p.Val318del) c.*742_*744del (n.*742_*744del) n.229_231del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |