| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.30617488G>T | CA16603221 | TCN2 | n.2576G>T c.1099G>T (p.Gly367Ter) c.1091+8G>T (n.1091+8G>T) c.940+1701G>T (n.940+1701G>T) c.1126G>T (p.Gly376Ter) c.*665G>T (n.*665G>T) c.946G>T (p.Gly316Ter) c.1129G>T (p.Gly377Ter) c.1090G>T (p.Gly364Ter) c.1087G>T (p.Gly363Ter) c.1018G>T (p.Gly340Ter) c.1024G>T (p.Gly342Ter) n.255G>T n.231G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.30617488G>C | CA411215847 | TCN2 | n.2576G>C c.1099G>C (p.Gly367Arg) c.1091+8G>C (n.1091+8G>C) c.940+1701G>C (n.940+1701G>C) c.1126G>C (p.Gly376Arg) c.*665G>C (n.*665G>C) c.946G>C (p.Gly316Arg) c.1129G>C (p.Gly377Arg) c.1090G>C (p.Gly364Arg) c.1087G>C (p.Gly363Arg) c.1018G>C (p.Gly340Arg) c.1024G>C (p.Gly342Arg) n.255G>C n.231G>C | dbSNP gnomAD v4 |
| 22 | g.30617488G= | CA2401112869 | TCN2 | n.2576G= c.1099G= (p.Gly367=) c.1091+8G= (n.1091+8G=) c.940+1701G= (n.940+1701G=) c.1126G= (p.Gly376=) c.*665G= (n.*665G=) c.946G= (p.Gly316=) c.1129G= (p.Gly377=) c.1090G= (p.Gly364=) c.1087G= (p.Gly363=) c.1018G= (p.Gly340=) c.1024G= (p.Gly342=) n.255G= n.231G= | dbSNP |