| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48134287A>T | CA269988760 | SLC24A5 | c.331A>T (p.Thr111Ser) c.151A>T (p.Thr51Ser) n.91A>T c.-9A>T (n.-9A>T) | dbSNP gnomAD v4 |
| 15 | g.48134287A>G | CA7545842 | SLC24A5 | c.331A>G (p.Thr111Ala) c.151A>G (p.Thr51Ala) n.91A>G c.-9A>G (n.-9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134287A= | CA115022 | SLC24A5 | c.331A= (p.Thr111=) c.151A= (p.Thr51=) n.91A= c.-9A= (n.-9A=) | ClinVar dbSNP |
| 15 | g.48134287A>C | CA392449687 | SLC24A5 | c.331A>C (p.Thr111Pro) c.151A>C (p.Thr51Pro) n.91A>C c.-9A>C (n.-9A>C) | dbSNP |