| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89283420G>T | CA16043692 | ANKRD11 | c.3122C>A (p.Ser1041Ter) c.*2925C>A (n.*2925C>A) c.2747C>A (p.Ser916Ter) c.744+5108C>A (n.744+5108C>A) c.151+5108C>A c.3020C>A (p.Ser1007Ter) c.2825C>A (p.Ser942Ter) c.2993C>A (p.Ser998Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89283420G>C | CA397160542 | ANKRD11 | c.3122C>G (p.Ser1041Ter) c.*2925C>G (n.*2925C>G) c.2747C>G (p.Ser916Ter) c.744+5108C>G (n.744+5108C>G) c.151+5108C>G c.3020C>G (p.Ser1007Ter) c.2825C>G (p.Ser942Ter) c.2993C>G (p.Ser998Ter) | ClinVar dbSNP |
| 16 | g.89283420G>A | CA397160541 | ANKRD11 | c.3122C>T (p.Ser1041Leu) c.*2925C>T (n.*2925C>T) c.2747C>T (p.Ser916Leu) c.744+5108C>T (n.744+5108C>T) c.151+5108C>T c.3020C>T (p.Ser1007Leu) c.2825C>T (p.Ser942Leu) c.2993C>T (p.Ser998Leu) | dbSNP gnomAD v3 gnomAD v4 |