| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.83783414A>T | CA496754833 | CDH13,HSBP1 | n.98-24621A>T c.2076A>T (p.Ala692=) c.2217A>T (p.Ala739=) c.1959A>T (p.Ala653=) c.*1708A>T (n.*1708A>T) c.2040A>T (p.Ala680=) c.996A>T (p.Ala332=) c.1920A>T (p.Ala640=) c.1314A>T (p.Ala438=) c.1773A>T (p.Ala591=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.83783414A>G | CA8196968 | CDH13,HSBP1 | n.98-24621A>G c.2076A>G (p.Ala692=) c.2217A>G (p.Ala739=) c.1959A>G (p.Ala653=) c.*1708A>G (n.*1708A>G) c.2040A>G (p.Ala680=) c.996A>G (p.Ala332=) c.1920A>G (p.Ala640=) c.1314A>G (p.Ala438=) c.1773A>G (p.Ala591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |