Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.40808575A>G | CA387919182 | SLC25A15,TPTE2P5 | c.760A>G (p.Ile254Val) n.623-7851T>C n.452-7851T>C | dbSNP gnomAD v4 |
13 | g.40808575A>C | CA387919179 | SLC25A15,TPTE2P5 | c.760A>C (p.Ile254Leu) n.623-7851T>G n.452-7851T>G | ClinVar dbSNP gnomAD v4 |
13 | g.40808575A>T | CA293506 | SLC25A15,TPTE2P5 | c.760A>T (p.Ile254Leu) n.623-7851T>A n.452-7851T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |