Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.85267836dup | CA118071 | BCL10 | c.466dup (p.Ser156PhefsTer3) c.499dup (p.Ser167PhefsTer3) n.1030dup c.464dup c.658dup (p.Ser220PhefsTer3) c.625dup (p.Ser209PhefsTer3) c.445dup (p.Ser149PhefsTer3) | ClinVar dbSNP gnomAD v4 |
1 | g.85267836del | CA929737 | BCL10 | c.466del (p.Ser156LeufsTer6) c.499del (p.Ser167LeufsTer6) n.1030del c.464del c.658del (p.Ser220LeufsTer6) c.625del (p.Ser209LeufsTer6) c.445del (p.Ser149LeufsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |