Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.65536473dup | CA8718439 | AXIN2 | c.1994dup (p.Asn666GlnfsTer?) c.1799dup (p.Asn601GlnfsTer?) n.216dup c.397-7767dup (n.397-7767dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.65536472_65536473del | CA2270883411 | AXIN2 | c.1993_1994del (p.Gly665GlnfsTer?) c.1798_1799del (p.Gly600GlnfsTer?) n.215_216del c.397-7768_397-7767del (n.397-7768_397-7767del) | dbSNP |
17 | g.65536473del | CA250538 | AXIN2 | c.1994del (p.Gly665AlafsTer24) c.1799del (p.Gly600AlafsTer24) n.216del c.397-7767del (n.397-7767del) | ClinVar dbSNP gnomAD v2 COSMIC |