| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50168547del | CA16041851 | SGCA | c.559del (p.Leu187PhefsTer?) n.284del c.550del (n.550del) c.439del (p.Leu147PhefsTer24) n.269del c.559del (p.Leu187PhefsTer24) c.559del (p.Leu187PhefsTer10) c.*218del (n.*218del) c.26del c.280del (p.Leu94PhefsTer10) c.394del n.350del c.*265del (n.*265del) c.253del (p.Leu85PhefsTer24) n.625del n.615del c.721del (p.Leu241PhefsTer24) c.721del (p.Leu241PhefsTer?) c.721del (p.Leu241PhefsTer10) n.1077del n.595del | ClinVar dbSNP |
| 17 | g.50168546_50168547del | CA2697560327 | SGCA | c.558_559del (p.Leu187SerfsTer3) n.283_284del c.549_550del (n.549_550del) c.438_439del (p.Leu147SerfsTer3) n.268_269del c.*217_*218del (n.*217_*218del) c.25_26del c.279_280del (p.Leu94SerfsTer3) c.393_394del n.349_350del c.*264_*265del (n.*264_*265del) c.252_253del (p.Leu85SerfsTer3) n.624_625del n.614_615del c.720_721del (p.Leu241SerfsTer3) n.1076_1077del n.594_595del | ClinVar dbSNP |