| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063370del | CA16042164 | BRCA1 | c.5153del (p.Val1718GlyfsTer11) c.5156del (p.Val1719GlyfsTer11) c.5030del (p.Val1677GlyfsTer11) c.5150del (p.Val1717GlyfsTer11) c.5078del (p.Val1693GlyfsTer11) c.1844del (p.Val615GlyfsTer11) c.1706del (p.Val569GlyfsTer11) c.4268del (p.Val1423GlyfsTer11) c.5033del (p.Val1678GlyfsTer11) c.5222del (p.Val1741GlyfsTer11) c.5015del (p.Val1672GlyfsTer11) c.1718del (p.Val573GlyfsTer11) c.5219del (p.Val1740GlyfsTer11) c.1543del c.1730del (p.Val577GlyfsTer11) c.*4939del (n.*4939del) c.1844del (p.Val615GlyfsTer?) c.1469del (p.Val490GlyfsTer?) c.1706del (p.Val569GlyfsTer?) c.86del (p.Val29GlyfsTer11) c.629del (p.Val210GlyfsTer11) c.-98-13180del (n.-98-13180del) n.5292del n.5333del | ClinVar dbSNP |
| 17 | g.43063370A= | CA2260769234 | BRCA1 | c.5153T= (p.Val1718=) c.5156T= (p.Val1719=) c.5030T= (p.Val1677=) c.5150T= (p.Val1717=) c.5078T= (p.Val1693=) c.1844T= (p.Val615=) c.1706T= (p.Val569=) c.4268T= (p.Val1423=) c.5033T= (p.Val1678=) c.5222T= (p.Val1741=) c.5015T= (p.Val1672=) c.1718T= (p.Val573=) c.5219T= (p.Val1740=) c.1543T= c.1730T= (p.Val577=) c.*4939T= (n.*4939T=) c.1469T= (p.Val490=) c.86T= (p.Val29=) c.629T= (p.Val210=) c.-98-13180T= (n.-98-13180T=) n.5292T= n.5333T= | dbSNP dbSNP |