| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89280330G>C | CA16044381 | ANKRD11 | c.6212C>G (p.Ser2071Ter) c.*6015C>G (n.*6015C>G) c.745-5139C>G (n.745-5139C>G) c.152-5139C>G c.6110C>G (p.Ser2037Ter) c.5915C>G (p.Ser1972Ter) c.6083C>G (p.Ser2028Ter) | ClinVar dbSNP |
| 16 | g.89280330G>A | CA8241531 | ANKRD11 | c.6212C>T (p.Ser2071Leu) c.*6015C>T (n.*6015C>T) c.745-5139C>T (n.745-5139C>T) c.152-5139C>T c.6110C>T (p.Ser2037Leu) c.5915C>T (p.Ser1972Leu) c.6083C>T (p.Ser2028Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |