| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74046755C>T | CA16618557 | ELN | c.631C>T (p.Pro211Ser) c.565C>T (p.Pro189Ser) c.646C>T (p.Pro216Ser) c.322C>T (p.Pro108Ser) c.601C>T (p.Pro201Ser) c.616C>T (p.Pro206Ser) c.529C>T (p.Pro177Ser) c.385C>T (p.Pro129Ser) c.256C>T (p.Pro86Ser) c.517C>T (p.Pro173Ser) n.515C>T n.97C>T c.499C>T (p.Pro167Ser) c.595C>T (p.Pro199Ser) c.610C>T (p.Pro204Ser) c.580C>T (p.Pro194Ser) | ClinVar dbSNP |
| 7 | g.74046755C= | CA1717340906 | ELN | c.631C= (p.Pro211=) c.565C= (p.Pro189=) c.646C= (p.Pro216=) c.322C= (p.Pro108=) c.601C= (p.Pro201=) c.616C= (p.Pro206=) c.529C= (p.Pro177=) c.385C= (p.Pro129=) c.256C= (p.Pro86=) c.517C= (p.Pro173=) n.515C= n.97C= c.499C= (p.Pro167=) c.595C= (p.Pro199=) c.610C= (p.Pro204=) c.580C= (p.Pro194=) | dbSNP |