| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.120990472G>A | CA201056 | GLI2 | c.4507G>A (p.Asp1503Asn) c.4558G>A (p.Asp1520Asn) c.*3606G>A (n.*3606G>A) c.*2544-118G>A (n.*2544-118G>A) c.*3657G>A (n.*3657G>A) c.*2493-118G>A (n.*2493-118G>A) c.4540G>A (p.Asp1514Asn) c.4417G>A (p.Asp1473Asn) c.4363G>A (p.Asp1455Asn) c.4183G>A (p.Asp1395Asn) c.4132G>A (p.Asp1378Asn) c.4810G>A (p.Asp1604Asn) c.4459G>A (p.Asp1487Asn) c.4759G>A (p.Asp1587Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.120990472G>C | CA1852651 | GLI2 | c.4507G>C (p.Asp1503His) c.4558G>C (p.Asp1520His) c.*3606G>C (n.*3606G>C) c.*2544-118G>C (n.*2544-118G>C) c.*3657G>C (n.*3657G>C) c.*2493-118G>C (n.*2493-118G>C) c.4540G>C (p.Asp1514His) c.4417G>C (p.Asp1473His) c.4363G>C (p.Asp1455His) c.4183G>C (p.Asp1395His) c.4132G>C (p.Asp1378His) c.4810G>C (p.Asp1604His) c.4459G>C (p.Asp1487His) c.4759G>C (p.Asp1587His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |