| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.120989380G>A | CA348174295 | GLI2 | c.3415G>A (p.Ala1139Thr) c.3466G>A (p.Ala1156Thr) c.*2514G>A (n.*2514G>A) c.*2543+22G>A (n.*2543+22G>A) c.*2565G>A (n.*2565G>A) c.*2492+22G>A (n.*2492+22G>A) c.3448G>A (p.Ala1150Thr) c.3325G>A (p.Ala1109Thr) c.3271G>A (p.Ala1091Thr) c.3091G>A (p.Ala1031Thr) c.3040G>A (p.Ala1014Thr) c.3718G>A (p.Ala1240Thr) c.3367G>A (p.Ala1123Thr) c.3667G>A (p.Ala1223Thr) | dbSNP gnomAD v4 |
| 2 | g.120989380G>T | CA148367 | GLI2 | c.3415G>T (p.Ala1139Ser) c.3466G>T (p.Ala1156Ser) c.*2514G>T (n.*2514G>T) c.*2543+22G>T (n.*2543+22G>T) c.*2565G>T (n.*2565G>T) c.*2492+22G>T (n.*2492+22G>T) c.3448G>T (p.Ala1150Ser) c.3325G>T (p.Ala1109Ser) c.3271G>T (p.Ala1091Ser) c.3091G>T (p.Ala1031Ser) c.3040G>T (p.Ala1014Ser) c.3718G>T (p.Ala1240Ser) c.3367G>T (p.Ala1123Ser) c.3667G>T (p.Ala1223Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |