| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228337A>G | CA114920 | SLC4A11 | c.2480T>C (p.Leu827Pro) c.2411T>C (p.Leu804Pro) c.2279T>C (p.Leu760Pro) c.2366T>C (p.Leu789Pro) c.2528T>C (p.Leu843Pro) c.2609T>C (p.Leu870Pro) c.*628T>C (n.*628T>C) c.2849T>C (p.Leu950Pro) c.2423T>C (p.Leu808Pro) c.2447T>C (p.Leu816Pro) n.2578T>C c.2843T>C (p.Leu948Pro) n.3023T>C n.3003T>C c.2495T>C (p.Leu832Pro) n.2988T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228337A= | CA2346474947 | SLC4A11 | c.2480T= (p.Leu827=) c.2411T= (p.Leu804=) c.2279T= (p.Leu760=) c.2366T= (p.Leu789=) c.2528T= (p.Leu843=) c.2609T= (p.Leu870=) c.*628T= (n.*628T=) c.2849T= (p.Leu950=) c.2423T= (p.Leu808=) c.2447T= (p.Leu816=) n.2578T= c.2843T= (p.Leu948=) n.3023T= n.3003T= c.2495T= (p.Leu832=) n.2988T= | dbSNP |