Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3770659G>T | CA394550756 | CREBBP | c.2791C>A (p.Gln931Lys) c.2677C>A (p.Gln893Lys) c.1396C>A (p.Gln466Lys) n.45C>A c.2746C>A (p.Gln916Lys) c.2464-1306C>A (n.2464-1306C>A) c.2737C>A (p.Gln913Lys) c.2038C>A (p.Gln680Lys) c.2785C>A (p.Gln929Lys) | dbSNP |
16 | g.3770659G>A | CA271379 | CREBBP | c.2791C>T (p.Gln931Ter) c.2677C>T (p.Gln893Ter) c.1396C>T (p.Gln466Ter) n.45C>T c.2746C>T (p.Gln916Ter) c.2464-1306C>T (n.2464-1306C>T) c.2737C>T (p.Gln913Ter) c.2038C>T (p.Gln680Ter) c.2785C>T (p.Gln929Ter) | ClinVar dbSNP |
16 | g.3770659G>C | CA394550754 | CREBBP | c.2791C>G (p.Gln931Glu) c.2677C>G (p.Gln893Glu) c.1396C>G (p.Gln466Glu) n.45C>G c.2746C>G (p.Gln916Glu) c.2464-1306C>G (n.2464-1306C>G) c.2737C>G (p.Gln913Glu) c.2038C>G (p.Gln680Glu) c.2785C>G (p.Gln929Glu) | dbSNP |