| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.761143C>G | CA407961936 | SLC52A3 | c.*507G>C (n.*507G>C) c.787G>C (p.Val263Leu) c.1293G>C (p.Trp431Cys) n.838G>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.761143C>T | CA16609696 | SLC52A3 | c.*507G>A (n.*507G>A) c.787G>A (p.Val263Met) c.1293G>A (p.Trp431Ter) n.838G>A | dbSNP |
| 20 | g.761143C= | CA2345348111 | SLC52A3 | c.*507G= (n.*507G=) c.787G= (p.Val263=) c.1293G= (p.Trp431=) n.838G= | dbSNP |