| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.36209731C>T | CA16609541 | EPB41L1 | c.1912C>T (p.Arg638Cys) c.4057C>T (p.Arg1353Cys) c.1690C>T (p.Arg564Cys) c.1585C>T (p.Arg529Cys) c.366-2541C>T c.163-2541C>T (n.163-2541C>T) n.574C>T c.1540-2541C>T (n.1540-2541C>T) c.3949C>T (p.Arg1317Cys) c.3946C>T (p.Arg1316Cys) c.3913C>T (p.Arg1305Cys) c.4024C>T (p.Arg1342Cys) c.3856C>T (p.Arg1286Cys) c.3763C>T (p.Arg1255Cys) c.2017C>T (p.Arg673Cys) c.1876C>T (p.Arg626Cys) c.1873C>T (p.Arg625Cys) c.1669-2541C>T (n.1669-2541C>T) c.1633-2541C>T (n.1633-2541C>T) c.1819C>T (p.Arg607Cys) c.1783C>T (p.Arg595Cys) c.1576-2541C>T (n.1576-2541C>T) c.3907C>T (p.Arg1303Cys) c.1483-2541C>T (n.1483-2541C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.36209731C= | CA2361996321 | EPB41L1 | c.1912C= (p.Arg638=) c.4057C= (p.Arg1353=) c.1690C= (p.Arg564=) c.1585C= (p.Arg529=) c.366-2541C= c.163-2541C= (n.163-2541C=) n.574C= c.1540-2541C= (n.1540-2541C=) c.3949C= (p.Arg1317=) c.3946C= (p.Arg1316=) c.3913C= (p.Arg1305=) c.4024C= (p.Arg1342=) c.3856C= (p.Arg1286=) c.3763C= (p.Arg1255=) c.2017C= (p.Arg673=) c.1876C= (p.Arg626=) c.1873C= (p.Arg625=) c.1669-2541C= (n.1669-2541C=) c.1633-2541C= (n.1633-2541C=) c.1819C= (p.Arg607=) c.1783C= (p.Arg595=) c.1576-2541C= (n.1576-2541C=) c.3907C= (p.Arg1303=) c.1483-2541C= (n.1483-2541C=) | dbSNP |