| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15645180del | CA16040914 | BTD | c.1264del (p.Val422SerfsTer?) c.399+3123del (n.399+3123del) c.1015+249del (n.1015+249del) c.165+3123del (n.165+3123del) c.1324del (p.Val442SerfsTer?) c.1330del (p.Val444SerfsTer?) c.793+249del (n.793+249del) c.*3042del (n.*3042del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15645180dup | CA2664667160 | BTD | c.1264dup (p.Val422GlyfsTer3) c.399+3123dup (n.399+3123dup) c.1015+249dup (n.1015+249dup) c.165+3123dup (n.165+3123dup) c.1324dup (p.Val442GlyfsTer3) c.1330dup (p.Val444GlyfsTer3) c.793+249dup (n.793+249dup) c.*3042dup (n.*3042dup) | ClinVar dbSNP gnomAD v4 |