| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.47680514C>G | CA406612847 | BICRA | c.1344C>G (p.Ser448Arg) c.618C>G (p.Ser206Arg) c.1188C>G (p.Ser396Arg) c.1206C>G (p.Ser402Arg) | dbSNP |
| 19 | g.47680514C>T | CA9541700 | BICRA | c.1344C>T (p.Ser448=) c.618C>T (p.Ser206=) c.1188C>T (p.Ser396=) c.1206C>T (p.Ser402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.47680514C= | CA2339526661 | BICRA | c.1344C= (p.Ser448=) c.618C= (p.Ser206=) c.1188C= (p.Ser396=) c.1206C= (p.Ser402=) | dbSNP |