Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133071278del | CA213618 | CEL | c.1776del (p.Val593CysfsTer?) c.1785del (p.Val596CysfsTer?) c.*723+53del (n.*723+53del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.133071278dup | CA591361666 | CEL | c.1776dup (p.Val593ArgfsTer6) c.1785dup (p.Val596ArgfsTer6) c.*723+53dup (n.*723+53dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |