| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.46501237C>A | CA229246 | ZNF674 | c.337G>T (p.Glu113Ter) c.334G>T (p.Glu112Ter) c.352G>T (p.Glu118Ter) c.349G>T (p.Glu117Ter) c.244G>T (p.Glu82Ter) c.151G>T (p.Glu51Ter) c.148G>T (p.Glu50Ter) | ClinVar dbSNP |
| X | g.46501237C>T | CA413031377 | ZNF674 | c.337G>A (p.Glu113Lys) c.334G>A (p.Glu112Lys) c.352G>A (p.Glu118Lys) c.349G>A (p.Glu117Lys) c.244G>A (p.Glu82Lys) c.151G>A (p.Glu51Lys) c.148G>A (p.Glu50Lys) | dbSNP gnomAD v4 |
| X | g.46501237C= | CA2427618949 | ZNF674 | c.337G= (p.Glu113=) c.334G= (p.Glu112=) c.352G= (p.Glu118=) c.349G= (p.Glu117=) c.244G= (p.Glu82=) c.151G= (p.Glu51=) c.148G= (p.Glu50=) | dbSNP |