| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.218395009G>C | CA2105433 | SLC11A1 | c.1627G>C (p.Asp543His) c.*1209G>C (n.*1209G>C) n.2103G>C n.4754G>C c.1426G>C (p.Asp476His) c.1273G>C (p.Asp425His) c.1180G>C (p.Asp394His) c.1300G>C (p.Asp434His) c.1504G>C (p.Asp502His) c.1258G>C (p.Asp420His) n.2642G>C n.2953G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.218395009G>A | CA120239 | SLC11A1 | c.1627G>A (p.Asp543Asn) c.*1209G>A (n.*1209G>A) n.2103G>A n.4754G>A c.1426G>A (p.Asp476Asn) c.1273G>A (p.Asp425Asn) c.1180G>A (p.Asp394Asn) c.1300G>A (p.Asp434Asn) c.1504G>A (p.Asp502Asn) c.1258G>A (p.Asp420Asn) n.2642G>A n.2953G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |