| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31486201del | CA122780 | SLC5A2 | c.500del (p.Gln167ArgfsTer20) n.374del c.371del (p.Gln124ArgfsTer20) n.519del c.521del (p.Gln174ArgfsTer20) n.514del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31486201A= | CA3217521999 | SLC5A2 | c.500A= (p.Gln167=) n.374A= c.371A= (p.Gln124=) n.519A= c.521A= (p.Gln174=) n.514A= | dbSNP |