| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90804246del | CA16041780 | BLM | c.3638del (p.Glu1213GlyfsTer?) n.2211del n.985del c.*2562del (n.*2562del) n.1664del c.3359-4891del (n.3359-4891del) c.2513del (p.Glu838GlyfsTer?) c.1676del (p.Glu559GlyfsTer?) c.2324del (p.Glu775GlyfsTer?) | ClinVar dbSNP |
| 15 | g.90804246A= | CA2195293544 | BLM | c.3638A= (p.Glu1213=) n.2211A= n.985A= c.*2562A= (n.*2562A=) n.1664A= c.3359-4891A= (n.3359-4891A=) c.2513A= (p.Glu838=) c.1676A= (p.Glu559=) c.2324A= (p.Glu775=) | dbSNP dbSNP |