| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57659616T>C | CA271530 | ADGRG1 | c.1490T>C (p.Leu497Pro) c.1508T>C (p.Leu503Pro) c.1505T>C (p.Leu502Pro) c.*1171T>C (n.*1171T>C) c.419-11T>C c.*1153T>C (n.*1153T>C) c.998T>C (p.Leu333Pro) c.983T>C (p.Leu328Pro) c.965T>C (p.Leu322Pro) c.1523T>C (p.Leu508Pro) c.1487T>C (p.Leu496Pro) c.1334T>C (p.Leu445Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57659616T= | CA2224715786 | ADGRG1 | c.1490T= (p.Leu497=) c.1508T= (p.Leu503=) c.1505T= (p.Leu502=) c.*1171T= (n.*1171T=) c.419-11T= c.*1153T= (n.*1153T=) c.998T= (p.Leu333=) c.983T= (p.Leu328=) c.965T= (p.Leu322=) c.1523T= (p.Leu508=) c.1487T= (p.Leu496=) c.1334T= (p.Leu445=) | dbSNP |