| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27328100A>G | CA1575895 | GTF3C2 | c.2346T>C (p.Pro782=) c.613T>C c.872T>C c.226T>C n.391T>C c.2463T>C (p.Pro821=) c.2379T>C (p.Pro793=) c.2691T>C (p.Pro897=) c.2334T>C (p.Pro778=) c.2268T>C (p.Pro756=) c.2190T>C (p.Pro730=) c.2118T>C (p.Pro706=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27328100A>T | CA425389786 | GTF3C2 | c.2346T>A (p.Pro782=) c.613T>A c.872T>A c.226T>A n.391T>A c.2463T>A (p.Pro821=) c.2379T>A (p.Pro793=) c.2691T>A (p.Pro897=) c.2334T>A (p.Pro778=) c.2268T>A (p.Pro756=) c.2190T>A (p.Pro730=) c.2118T>A (p.Pro706=) | dbSNP |