| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.120682410C>G | CA584696374 | SNTB1 | c.788+11282G>C (n.788+11282G>C) n.508+11282G>C n.217+11282G>C | dbSNP gnomAD v2 |
| 8 | g.120682410C>A | CA185003424 | SNTB1 | c.788+11282G>T (n.788+11282G>T) n.508+11282G>T n.217+11282G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |