| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17881961A>C | CA118963 | SLC5A5 | c.1060A>C (p.Thr354Pro) c.1093A>C (p.Thr365Pro) c.826A>C (p.Thr276Pro) c.727A>C (p.Thr243Pro) c.793A>C (p.Thr265Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.17881961A= | CA2326077482 | SLC5A5 | c.1060A= (p.Thr354=) c.1093A= (p.Thr365=) c.826A= (p.Thr276=) c.727A= (p.Thr243=) c.793A= (p.Thr265=) | dbSNP |