| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.120990568A>G | CA348180184 | GLI2 | c.4603A>G (p.Thr1535Ala) c.4654A>G (p.Thr1552Ala) c.*3702A>G (n.*3702A>G) c.*2544-22A>G (n.*2544-22A>G) c.*3753A>G (n.*3753A>G) c.*2493-22A>G (n.*2493-22A>G) c.4636A>G (p.Thr1546Ala) c.4513A>G (p.Thr1505Ala) c.4459A>G (p.Thr1487Ala) c.4279A>G (p.Thr1427Ala) c.4228A>G (p.Thr1410Ala) c.4906A>G (p.Thr1636Ala) c.4555A>G (p.Thr1519Ala) c.4855A>G (p.Thr1619Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.120990568A>T | CA16043648 | GLI2 | c.4603A>T (p.Thr1535Ser) c.4654A>T (p.Thr1552Ser) c.*3702A>T (n.*3702A>T) c.*2544-22A>T (n.*2544-22A>T) c.*3753A>T (n.*3753A>T) c.*2493-22A>T (n.*2493-22A>T) c.4636A>T (p.Thr1546Ser) c.4513A>T (p.Thr1505Ser) c.4459A>T (p.Thr1487Ser) c.4279A>T (p.Thr1427Ser) c.4228A>T (p.Thr1410Ser) c.4906A>T (p.Thr1636Ser) c.4555A>T (p.Thr1519Ser) c.4855A>T (p.Thr1619Ser) | ClinVar dbSNP |