| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157463303C>A | CA3534557 | ADAM19,NIPAL4 | c.247C>A (p.Arg83=) c.433C>A (p.Arg145=) c.*1741+24962G>T (n.*1741+24962G>T) c.345C>A (p.Cys115Ter) n.461C>A n.352C>A c.-63C>A (n.-63C>A) c.-210C>A (n.-210C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157463303C>T | CA251936 | ADAM19,NIPAL4 | c.247C>T (p.Arg83Ter) c.433C>T (p.Arg145Ter) c.*1741+24962G>A (n.*1741+24962G>A) c.345C>T (p.Cys115=) n.461C>T n.352C>T c.-63C>T (n.-63C>T) c.-210C>T (n.-210C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157463303C= | CA1594183072 | ADAM19,NIPAL4 | c.247C= (p.Arg83=) c.433C= (p.Arg145=) c.*1741+24962G= (n.*1741+24962G=) c.345C= (p.Cys115=) n.461C= n.352C= c.-63C= (n.-63C=) c.-210C= (n.-210C=) | dbSNP |