| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.110900466A>C | CA151209 | BBIP1 | c.173T>G (p.Leu58Ter) c.*262T>G (n.*262T>G) c.107T>G (p.Leu36Ter) c.*132T>G (n.*132T>G) c.98T>G (p.Leu33Ter) c.*18T>G (n.*18T>G) n.4480T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.110900466A= | CA3173990931 | BBIP1 | c.173T= (p.Leu58=) c.*262T= (n.*262T=) c.107T= (p.Leu36=) c.*132T= (n.*132T=) c.98T= (p.Leu33=) c.*18T= (n.*18T=) n.4480T= | dbSNP |