| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137776636C>T | CA345050 | EHMT1 | c.1810C>T (p.Gln604Ter) c.1696C>T (p.Gln566Ter) c.1717C>T (p.Gln573Ter) c.1850C>T (n.1850C>T) c.1437C>T c.979C>T (p.Gln327Ter) c.*1545C>T (n.*1545C>T) c.667C>T (p.Gln223Ter) c.358C>T (p.Gln120Ter) n.1813G>A c.1801C>T (p.Gln601Ter) c.1792C>T (p.Gln598Ter) c.1819C>T (p.Gln607Ter) c.1816C>T (p.Gln606Ter) c.1798C>T (p.Gln600Ter) c.1741C>T (p.Gln581Ter) c.1675C>T (p.Gln559Ter) c.241C>T (p.Gln81Ter) c.1654C>T (p.Gln552Ter) c.1789C>T (p.Gln597Ter) c.1795C>T (p.Gln599Ter) c.1711C>T (p.Gln571Ter) c.1639C>T (p.Gln547Ter) c.1573C>T (p.Gln525Ter) c.934C>T (p.Gln312Ter) c.1552C>T (p.Gln518Ter) | ClinVar dbSNP |
| 9 | g.137776636C>A | CA375775586 | EHMT1 | c.1810C>A (p.Gln604Lys) c.1696C>A (p.Gln566Lys) c.1717C>A (p.Gln573Lys) c.1850C>A (n.1850C>A) c.1437C>A c.979C>A (p.Gln327Lys) c.*1545C>A (n.*1545C>A) c.667C>A (p.Gln223Lys) c.358C>A (p.Gln120Lys) n.1813G>T c.1801C>A (p.Gln601Lys) c.1792C>A (p.Gln598Lys) c.1819C>A (p.Gln607Lys) c.1816C>A (p.Gln606Lys) c.1798C>A (p.Gln600Lys) c.1741C>A (p.Gln581Lys) c.1675C>A (p.Gln559Lys) c.241C>A (p.Gln81Lys) c.1654C>A (p.Gln552Lys) c.1789C>A (p.Gln597Lys) c.1795C>A (p.Gln599Lys) c.1711C>A (p.Gln571Lys) c.1639C>A (p.Gln547Lys) c.1573C>A (p.Gln525Lys) c.934C>A (p.Gln312Lys) c.1552C>A (p.Gln518Lys) | dbSNP gnomAD v4 |
| 9 | g.137776636C= | CA1884666465 | EHMT1 | c.1810C= (p.Gln604=) c.1696C= (p.Gln566=) c.1717C= (p.Gln573=) c.1850C= (n.1850C=) c.1437C= c.979C= (p.Gln327=) c.*1545C= (n.*1545C=) c.667C= (p.Gln223=) c.358C= (p.Gln120=) n.1813G= c.1801C= (p.Gln601=) c.1792C= (p.Gln598=) c.1819C= (p.Gln607=) c.1816C= (p.Gln606=) c.1798C= (p.Gln600=) c.1741C= (p.Gln581=) c.1675C= (p.Gln559=) c.241C= (p.Gln81=) c.1654C= (p.Gln552=) c.1789C= (p.Gln597=) c.1795C= (p.Gln599=) c.1711C= (p.Gln571=) c.1639C= (p.Gln547=) c.1573C= (p.Gln525=) c.934C= (p.Gln312=) c.1552C= (p.Gln518=) | dbSNP |