| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.119086757A>G | CA10500938 | KIAA1210 | c.3945T>C (p.Ser1315=) c.4473T>C (p.Ser1491=) c.3747T>C (p.Ser1249=) c.3990T>C (p.Ser1330=) c.3792T>C (p.Ser1264=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.119086757A= | CA2454424640 | KIAA1210 | c.3945T= (p.Ser1315=) c.4473T= (p.Ser1491=) c.3747T= (p.Ser1249=) c.3990T= (p.Ser1330=) c.3792T= (p.Ser1264=) | dbSNP |