| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.41966080G>A | CA4230480 | GLI3 | c.2993C>T (p.Pro998Leu) c.2819C>T (p.Pro940Leu) n.2970C>T c.2816C>T (p.Pro939Leu) c.2990C>T (p.Pro997Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966080G>C | CA367319560 | GLI3 | c.2993C>G (p.Pro998Arg) c.2819C>G (p.Pro940Arg) n.2970C>G c.2816C>G (p.Pro939Arg) c.2990C>G (p.Pro997Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.41966080G= | CA1630834740 | GLI3 | c.2993C= (p.Pro998=) c.2819C= (p.Pro940=) n.2970C= c.2816C= (p.Pro939=) c.2990C= (p.Pro997=) | dbSNP |