Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152122609G>T | CA155452 | ESR1,SYNE1 | c.2755C>A (p.Leu919Met) c.26221C>A (p.Leu8741Met) c.26077C>A (p.Leu8693Met) c.1564C>A c.1939C>A c.1806C>A c.2071C>A (n.2071C>A) c.25006C>A (p.Leu8336Met) n.2969C>A c.4997C>A (n.4997C>A) n.9913C>A c.4100C>A (n.4100C>A) n.9805C>A c.851-2657G>T (n.851-2657G>T) n.2835C>A n.6858C>A n.2999C>A c.2686C>A (p.Leu896Met) c.26368C>A (p.Leu8790Met) c.26356C>A (p.Leu8786Met) c.26347C>A (p.Leu8783Met) c.26326C>A (p.Leu8776Met) c.26317C>A (p.Leu8773Met) c.26311C>A (p.Leu8771Met) c.26299C>A (p.Leu8767Met) c.26296C>A (p.Leu8766Met) c.26257C>A (p.Leu8753Met) c.26242C>A (p.Leu8748Met) c.26227C>A (p.Leu8743Met) c.26215C>A (p.Leu8739Met) c.26212C>A (p.Leu8738Met) c.26209C>A (p.Leu8737Met) c.*32C>A (n.*32C>A) c.26365C>A (p.Leu8789Met) c.26353C>A (p.Leu8785Met) c.26203C>A (p.Leu8735Met) c.24643C>A (p.Leu8215Met) c.24136C>A (p.Leu8046Met) c.19603C>A (p.Leu6535Met) c.26341C>A (p.Leu8781Met) c.26290C>A (p.Leu8764Met) c.26254C>A (p.Leu8752Met) c.26101C>A (p.Leu8701Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122609G= | CA1673189071 | ESR1,SYNE1 | c.2755C= (p.Leu919=) c.26221C= (p.Leu8741=) c.26077C= (p.Leu8693=) c.1564C= c.1939C= c.1806C= c.2071C= (n.2071C=) c.25006C= (p.Leu8336=) n.2969C= c.4997C= (n.4997C=) n.9913C= c.4100C= (n.4100C=) n.9805C= c.851-2657G= (n.851-2657G=) n.2835C= n.6858C= n.2999C= c.2686C= (p.Leu896=) c.26368C= (p.Leu8790=) c.26356C= (p.Leu8786=) c.26347C= (p.Leu8783=) c.26326C= (p.Leu8776=) c.26317C= (p.Leu8773=) c.26311C= (p.Leu8771=) c.26299C= (p.Leu8767=) c.26296C= (p.Leu8766=) c.26257C= (p.Leu8753=) c.26242C= (p.Leu8748=) c.26227C= (p.Leu8743=) c.26215C= (p.Leu8739=) c.26212C= (p.Leu8738=) c.26209C= (p.Leu8737=) c.*32C= (n.*32C=) c.26365C= (p.Leu8789=) c.26353C= (p.Leu8785=) c.26203C= (p.Leu8735=) c.24643C= (p.Leu8215=) c.24136C= (p.Leu8046=) c.19603C= (p.Leu6535=) c.26341C= (p.Leu8781=) c.26290C= (p.Leu8764=) c.26254C= (p.Leu8752=) c.26101C= (p.Leu8701=) | dbSNP |