| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.34856859A>G | CA3766627 | BLTP3A | c.1361A>G (p.Gln454Arg) c.203A>G (p.Gln68Arg) c.1274A>G (p.Gln425Arg) c.365A>G (p.Gln122Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.34856859A>T | CA363739168 | BLTP3A | c.1361A>T (p.Gln454Leu) c.203A>T (p.Gln68Leu) c.1274A>T (p.Gln425Leu) c.365A>T (p.Gln122Leu) | dbSNP gnomAD v4 |