| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24596250T>G | CA3657847 | KIAA0319 | c.424A>C (p.Thr142Pro) c.289A>C (p.Thr97Pro) c.397A>C (p.Thr133Pro) c.-23-10A>C (n.-23-10A>C) c.442A>C (p.Thr148Pro) c.406A>C (p.Thr136Pro) n.667A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24596250T>C | CA362971881 | KIAA0319 | c.424A>G (p.Thr142Ala) c.289A>G (p.Thr97Ala) c.397A>G (p.Thr133Ala) c.-23-10A>G (n.-23-10A>G) c.442A>G (p.Thr148Ala) c.406A>G (p.Thr136Ala) n.667A>G | dbSNP |
| 6 | g.24596250T>A | CA362971879 | KIAA0319 | c.424A>T (p.Thr142Ser) c.289A>T (p.Thr97Ser) c.397A>T (p.Thr133Ser) c.-23-10A>T (n.-23-10A>T) c.442A>T (p.Thr148Ser) c.406A>T (p.Thr136Ser) n.667A>T | dbSNP gnomAD v4 |