| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240868898dup | CA345700 | AGXT | c.33dup (p.Lys12GlnfsTer?) n.53dup n.405+1342dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.240868898del | CA273942 | AGXT | c.33del (p.Lys12ArgfsTer?) n.53del n.405+1342del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.240868897_240868898del | CA275814 | AGXT | c.32_33del (p.Pro11GlnfsTer?) n.52_53del n.405+1341_405+1342del | ClinVar dbSNP |