| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47801132del | CA16611163 | FBXO11,MSH6 | c.2852del (p.Ala951ValfsTer2) c.3149del (p.Ala1050ValfsTer2) n.3233del c.1606+1543del (n.1606+1543del) c.3155del (p.Ala1052ValfsTer2) c.628-2288del (n.628-2288del) c.2306del (p.Ala769ValfsTer2) c.2759del (p.Ala920ValfsTer2) c.169+7063del (n.169+7063del) c.*124+6862del (n.*124+6862del) c.*2496del (n.*2496del) c.2243del (p.Ala748ValfsTer2) c.3146del (p.Ala1049ValfsTer2) c.53del (p.Ala18ValfsTer2) c.2966del (p.Ala989ValfsTer2) | ClinVar dbSNP |
| 2 | g.47801132C= | CA2496050154 | FBXO11,MSH6 | c.2852C= (p.Ala951=) c.3149C= (p.Ala1050=) n.3233C= c.1606+1543C= (n.1606+1543C=) c.3155C= (p.Ala1052=) c.628-2288C= (n.628-2288C=) c.2306C= (p.Ala769=) c.2759C= (p.Ala920=) c.169+7063G= (n.169+7063G=) c.*124+6862G= (n.*124+6862G=) c.*2496C= (n.*2496C=) c.2243C= (p.Ala748=) c.3146C= (p.Ala1049=) c.53C= (p.Ala18=) c.2966C= (p.Ala989=) | dbSNP dbSNP |