| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68823557C>G | CA169924 | CDH1 | c.2095C>G (p.Gln699Glu) c.1912C>G (p.Gln638Glu) n.313C>G n.2166C>G c.*761C>G (n.*761C>G) c.*335C>G (n.*335C>G) c.2158C>G (p.Gln720Glu) c.1830+1438C>G (n.1830+1438C>G) c.1865+1403C>G (n.1865+1403C>G) c.1360C>G (p.Gln454Glu) c.547C>G (p.Gln183Glu) c.130C>G (p.Gln44Glu) | ClinVar dbSNP |
| 16 | g.68823557C>A | CA8130192 | CDH1 | c.2095C>A (p.Gln699Lys) c.1912C>A (p.Gln638Lys) n.313C>A n.2166C>A c.*761C>A (n.*761C>A) c.*335C>A (n.*335C>A) c.2158C>A (p.Gln720Lys) c.1830+1438C>A (n.1830+1438C>A) c.1865+1403C>A (n.1865+1403C>A) c.1360C>A (p.Gln454Lys) c.547C>A (p.Gln183Lys) c.130C>A (p.Gln44Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.68823557C>T | CA280993 | CDH1 | c.2095C>T (p.Gln699Ter) c.1912C>T (p.Gln638Ter) n.313C>T n.2166C>T c.*761C>T (n.*761C>T) c.*335C>T (n.*335C>T) c.2158C>T (p.Gln720Ter) c.1830+1438C>T (n.1830+1438C>T) c.1865+1403C>T (n.1865+1403C>T) c.1360C>T (p.Gln454Ter) c.547C>T (p.Gln183Ter) c.130C>T (p.Gln44Ter) | ClinVar dbSNP COSMIC |