| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123708719G>A | CA068101 | MYLK | c.1912C>T (p.Gln638Ter) c.2119C>T (p.Gln707Ter) n.2013C>T c.2149C>T (p.Gln717Ter) c.1357C>T (p.Gln453Ter) c.*1698C>T (n.*1698C>T) c.1591C>T (p.Gln531Ter) n.314-3638G>A n.407-3534G>A n.407-3638G>A n.404-3638G>A n.231-3638G>A n.227-3638G>A c.1942C>T (p.Gln648Ter) n.252-3638G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123708719G= | CA1398518656 | MYLK | c.1912C= (p.Gln638=) c.2119C= (p.Gln707=) n.2013C= c.2149C= (p.Gln717=) c.1357C= (p.Gln453=) c.*1698C= (n.*1698C=) c.1591C= (p.Gln531=) n.314-3638G= n.407-3534G= n.407-3638G= n.404-3638G= n.231-3638G= n.227-3638G= c.1942C= (p.Gln648=) n.252-3638G= | dbSNP |