Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.94306584A>G | CA5613420 | PLCE1 | c.4856A>G (p.His1619Arg) c.*2323A>G (n.*2323A>G) n.2515A>G n.1199A>G c.*1064A>G (n.*1064A>G) c.4808A>G (p.His1603Arg) n.9988A>G n.3453A>G c.5648A>G (p.His1883Arg) c.5732A>G (p.His1911Arg) c.5780A>G (p.His1927Arg) c.4754A>G (p.His1585Arg) c.4335A>G c.3896A>G (p.His1299Arg) c.*1713A>G (n.*1713A>G) c.5049A>G c.5822A>G (p.His1941Arg) c.5819A>G (p.His1940Arg) c.5774A>G (p.His1925Arg) c.4898A>G (p.His1633Arg) c.4667A>G (p.His1556Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.94306584A= | CA1929001572 | PLCE1 | c.4856A= (p.His1619=) c.*2323A= (n.*2323A=) n.2515A= n.1199A= c.*1064A= (n.*1064A=) c.4808A= (p.His1603=) n.9988A= n.3453A= c.5648A= (p.His1883=) c.5732A= (p.His1911=) c.5780A= (p.His1927=) c.4754A= (p.His1585=) c.4335A= c.3896A= (p.His1299=) c.*1713A= (n.*1713A=) c.5049A= c.5822A= (p.His1941=) c.5819A= (p.His1940=) c.5774A= (p.His1925=) c.4898A= (p.His1633=) c.4667A= (p.His1556=) | dbSNP |
10 | g.94306584A>C | CA377644033 | PLCE1 | c.4856A>C (p.His1619Pro) c.*2323A>C (n.*2323A>C) n.2515A>C n.1199A>C c.*1064A>C (n.*1064A>C) c.4808A>C (p.His1603Pro) n.9988A>C n.3453A>C c.5648A>C (p.His1883Pro) c.5732A>C (p.His1911Pro) c.5780A>C (p.His1927Pro) c.4754A>C (p.His1585Pro) c.4335A>C c.3896A>C (p.His1299Pro) c.*1713A>C (n.*1713A>C) c.5049A>C c.5822A>C (p.His1941Pro) c.5819A>C (p.His1940Pro) c.5774A>C (p.His1925Pro) c.4898A>C (p.His1633Pro) c.4667A>C (p.His1556Pro) | dbSNP gnomAD v4 |
10 | g.94306584A>T | CA377644034 | PLCE1 | c.4856A>T (p.His1619Leu) c.*2323A>T (n.*2323A>T) n.2515A>T n.1199A>T c.*1064A>T (n.*1064A>T) c.4808A>T (p.His1603Leu) n.9988A>T n.3453A>T c.5648A>T (p.His1883Leu) c.5732A>T (p.His1911Leu) c.5780A>T (p.His1927Leu) c.4754A>T (p.His1585Leu) c.4335A>T c.3896A>T (p.His1299Leu) c.*1713A>T (n.*1713A>T) c.5049A>T c.5822A>T (p.His1941Leu) c.5819A>T (p.His1940Leu) c.5774A>T (p.His1925Leu) c.4898A>T (p.His1633Leu) c.4667A>T (p.His1556Leu) | dbSNP gnomAD v4 |