| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94304583C>T | CA115496 | PLCE1 | c.4636C>T (p.Gln1546Ter) c.*2103C>T (n.*2103C>T) n.2295C>T n.979C>T c.*844C>T (n.*844C>T) c.4588C>T (p.Gln1530Ter) n.9768C>T n.3233C>T c.5428C>T (p.Gln1810Ter) c.5512C>T (p.Gln1838Ter) c.5560C>T (p.Gln1854Ter) c.4534C>T (p.Gln1512Ter) c.4115C>T c.3676C>T (p.Gln1226Ter) c.*1493C>T (n.*1493C>T) c.4829C>T c.5602C>T (p.Gln1868Ter) c.5599C>T (p.Gln1867Ter) c.5554C>T (p.Gln1852Ter) c.4678C>T (p.Gln1560Ter) c.4447C>T (p.Gln1483Ter) | ClinVar dbSNP |
| 10 | g.94304583C>A | CA377643085 | PLCE1 | c.4636C>A (p.Gln1546Lys) c.*2103C>A (n.*2103C>A) n.2295C>A n.979C>A c.*844C>A (n.*844C>A) c.4588C>A (p.Gln1530Lys) n.9768C>A n.3233C>A c.5428C>A (p.Gln1810Lys) c.5512C>A (p.Gln1838Lys) c.5560C>A (p.Gln1854Lys) c.4534C>A (p.Gln1512Lys) c.4115C>A c.3676C>A (p.Gln1226Lys) c.*1493C>A (n.*1493C>A) c.4829C>A c.5602C>A (p.Gln1868Lys) c.5599C>A (p.Gln1867Lys) c.5554C>A (p.Gln1852Lys) c.4678C>A (p.Gln1560Lys) c.4447C>A (p.Gln1483Lys) | dbSNP |
| 10 | g.94304583C= | CA1929000787 | PLCE1 | c.4636C= (p.Gln1546=) c.*2103C= (n.*2103C=) n.2295C= n.979C= c.*844C= (n.*844C=) c.4588C= (p.Gln1530=) n.9768C= n.3233C= c.5428C= (p.Gln1810=) c.5512C= (p.Gln1838=) c.5560C= (p.Gln1854=) c.4534C= (p.Gln1512=) c.4115C= c.3676C= (p.Gln1226=) c.*1493C= (n.*1493C=) c.4829C= c.5602C= (p.Gln1868=) c.5599C= (p.Gln1867=) c.5554C= (p.Gln1852=) c.4678C= (p.Gln1560=) c.4447C= (p.Gln1483=) | dbSNP |