| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.83470315G>A | CA288645 | ABRAXAS1 | c.364C>T (p.Gln122Ter) c.*72C>T (n.*72C>T) c.526C>T (p.Gln176Ter) c.343C>T (p.Gln115Ter) c.217C>T (p.Gln73Ter) c.*425C>T (n.*425C>T) c.19C>T (p.Gln7Ter) c.216-1164C>T (n.216-1164C>T) c.12-1164C>T (n.12-1164C>T) c.37C>T (p.Gln13Ter) n.429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.83470315G>T | CA2990565 | ABRAXAS1 | c.364C>A (p.Gln122Lys) c.*72C>A (n.*72C>A) c.526C>A (p.Gln176Lys) c.343C>A (p.Gln115Lys) c.217C>A (p.Gln73Lys) c.*425C>A (n.*425C>A) c.19C>A (p.Gln7Lys) c.216-1164C>A (n.216-1164C>A) c.12-1164C>A (n.12-1164C>A) c.37C>A (p.Gln13Lys) n.429C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.83470315G>C | CA288643 | ABRAXAS1 | c.364C>G (p.Gln122Glu) c.*72C>G (n.*72C>G) c.526C>G (p.Gln176Glu) c.343C>G (p.Gln115Glu) c.217C>G (p.Gln73Glu) c.*425C>G (n.*425C>G) c.19C>G (p.Gln7Glu) c.216-1164C>G (n.216-1164C>G) c.12-1164C>G (n.12-1164C>G) c.37C>G (p.Gln13Glu) n.429C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |