| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43238827C>G | CA170976 | TGM5 | c.1335G>C (p.Lys445Asn) c.1089G>C (p.Lys363Asn) n.811G>C c.1332G>C (p.Lys444Asn) c.1086G>C (p.Lys362Asn) c.1338G>C (p.Lys446Asn) c.306G>C (p.Lys102Asn) n.1509G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43238827C= | CA2173094822 | TGM5 | c.1335G= (p.Lys445=) c.1089G= (p.Lys363=) n.811G= c.1332G= (p.Lys444=) c.1086G= (p.Lys362=) c.1338G= (p.Lys446=) c.306G= (p.Lys102=) n.1509G= | dbSNP |