| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44146479del | CA213699 | GCK | c.*1001del (n.*1001del) c.*123del (n.*123del) n.229del c.1006del (p.Val336CysfsTer18) c.1003del (p.Val335CysfsTer18) c.1066del (p.Val356CysfsTer18) c.1000del (p.Val334CysfsTer18) c.952del (p.Val318CysfsTer18) n.301del c.8+140del (n.8+140del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146479C= | CA1703613461 | GCK | c.*1001G= (n.*1001G=) c.*123G= (n.*123G=) n.229G= c.1006G= (p.Val336=) c.1003G= (p.Val335=) c.1066G= (p.Val356=) c.1000G= (p.Val334=) c.952G= (p.Val318=) n.301G= c.8+140G= (n.8+140G=) | dbSNP dbSNP |