| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.33017461T>C | CA116893 | NT5C3A | c.533A>G (p.Asn178Ser) c.671A>G (p.Asn224Ser) c.569A>G (p.Asn190Ser) c.686A>G (p.Asn229Ser) c.*576A>G (n.*576A>G) c.572A>G (p.Asn191Ser) c.470A>G (p.Asn157Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33017461T>A | CA367191650 | NT5C3A | c.533A>T (p.Asn178Ile) c.671A>T (p.Asn224Ile) c.569A>T (p.Asn190Ile) c.686A>T (p.Asn229Ile) c.*576A>T (n.*576A>T) c.572A>T (p.Asn191Ile) c.470A>T (p.Asn157Ile) | dbSNP gnomAD v3 gnomAD v4 |