| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21838124G>A | CA235865 | ABCC9 | c.3520C>T (p.His1174Tyr) n.1097C>T c.*2618C>T (n.*2618C>T) n.3021C>T c.3469C>T (p.His1157Tyr) c.2401C>T (p.His801Tyr) c.3481C>T (p.His1161Tyr) c.3379C>T (p.His1127Tyr) c.2653C>T (p.His885Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21838124G= | CA2021307663 | ABCC9 | c.3520C= (p.His1174=) n.1097C= c.*2618C= (n.*2618C=) n.3021C= c.3469C= (p.His1157=) c.2401C= (p.His801=) c.3481C= (p.His1161=) c.3379C= (p.His1127=) c.2653C= (p.His885=) | dbSNP |