| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107701972T>A | CA16041115 | SLC26A4 | c.1949T>A (p.Val650Asp) c.660T>A n.236T>A c.1871T>A (p.Val624Asp) | ClinVar dbSNP |
| 7 | g.107701972T>C | CA368843664 | SLC26A4 | c.1949T>C (p.Val650Ala) c.660T>C n.236T>C c.1871T>C (p.Val624Ala) | dbSNP gnomAD v4 |
| 7 | g.107701972T= | CA1732759343 | SLC26A4 | c.1949T= (p.Val650=) c.660T= n.236T= c.1871T= (p.Val624=) | dbSNP |