| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73636628del | CA16041083 | SLC17A5 | c.693del (p.Phe233LeufsTer15) n.459del c.642del (p.Phe216LeufsTer15) c.495del (p.Phe167LeufsTer15) c.462del (p.Phe156LeufsTer15) c.714del (p.Phe240LeufsTer15) c.614-1128del (n.614-1128del) c.690del (p.Phe232LeufsTer15) c.383-1128del (n.383-1128del) | ClinVar dbSNP |
| 6 | g.73636628G= | CA3135552289 | SLC17A5 | c.693C= (p.Tyr231=) n.459C= c.642C= (p.Tyr214=) c.495C= (p.Tyr165=) c.462C= (p.Tyr154=) c.714C= (p.Tyr238=) c.614-1128C= (n.614-1128C=) c.690C= (p.Tyr230=) c.383-1128C= (n.383-1128C=) | dbSNP dbSNP |