Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77683580G>A | CA16609549 | ATRX | c.1676C>T (p.Ser559Leu) c.1562C>T (p.Ser521Leu) c.*1304C>T (n.*1304C>T) c.1511C>T (p.Ser504Leu) c.1559C>T (p.Ser520Leu) c.1673C>T (p.Ser558Leu) c.1397C>T (p.Ser466Leu) n.1944C>T c.1556C>T (p.Ser519Leu) c.1508C>T (p.Ser503Leu) c.1445C>T (p.Ser482Leu) c.1442C>T (p.Ser481Leu) c.1394C>T (p.Ser465Leu) n.1901C>T | ClinVar dbSNP gnomAD v4 |
X | g.77683580G>C | CA413716965 | ATRX | c.1676C>G (p.Ser559Ter) c.1562C>G (p.Ser521Ter) c.*1304C>G (n.*1304C>G) c.1511C>G (p.Ser504Ter) c.1559C>G (p.Ser520Ter) c.1673C>G (p.Ser558Ter) c.1397C>G (p.Ser466Ter) n.1944C>G c.1556C>G (p.Ser519Ter) c.1508C>G (p.Ser503Ter) c.1445C>G (p.Ser482Ter) c.1442C>G (p.Ser481Ter) c.1394C>G (p.Ser465Ter) n.1901C>G | dbSNP |
X | g.77683580G>T | CA413716967 | ATRX | c.1676C>A (p.Ser559Ter) c.1562C>A (p.Ser521Ter) c.*1304C>A (n.*1304C>A) c.1511C>A (p.Ser504Ter) c.1559C>A (p.Ser520Ter) c.1673C>A (p.Ser558Ter) c.1397C>A (p.Ser466Ter) n.1944C>A c.1556C>A (p.Ser519Ter) c.1508C>A (p.Ser503Ter) c.1445C>A (p.Ser482Ter) c.1442C>A (p.Ser481Ter) c.1394C>A (p.Ser465Ter) n.1901C>A | dbSNP COSMIC COSMIC |