| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16068162T>A | CA394880784 | ABCC1 | c.1684T>A (p.Leu562Met) c.1558T>A (p.Leu520Met) c.706T>A (p.Leu236Met) c.1379T>A c.1660T>A (p.Leu554Met) c.1732-3480T>A (n.1732-3480T>A) c.1738T>A (p.Leu580Met) c.1612T>A (p.Leu538Met) c.1600T>A (p.Leu534Met) c.1474T>A (p.Leu492Met) | dbSNP |
| 16 | g.16068162T>C | CA7924007 | ABCC1 | c.1684T>C (p.Leu562=) c.1558T>C (p.Leu520=) c.706T>C (p.Leu236=) c.1379T>C c.1660T>C (p.Leu554=) c.1732-3480T>C (n.1732-3480T>C) c.1738T>C (p.Leu580=) c.1612T>C (p.Leu538=) c.1600T>C (p.Leu534=) c.1474T>C (p.Leu492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |