| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145148C>A | CA213763 | GCK | c.*1384G>T (n.*1384G>T) c.*506G>T (n.*506G>T) n.612G>T c.420G>T (p.Met140Ile) c.1389G>T (p.Met463Ile) c.1386G>T (p.Met462Ile) c.1449G>T (p.Met483Ile) n.381+17G>T c.1369+17G>T (n.1369+17G>T) c.438G>T (p.Met146Ile) c.1383G>T (p.Met461Ile) c.1335G>T (p.Met445Ile) n.766G>T c.375G>T (p.Met125Ile) c.229+17G>T (n.229+17G>T) c.246G>T (p.Met82Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145148C>T | CA4239371 | GCK | c.*1384G>A (n.*1384G>A) c.*506G>A (n.*506G>A) n.612G>A c.420G>A (p.Met140Ile) c.1389G>A (p.Met463Ile) c.1386G>A (p.Met462Ile) c.1449G>A (p.Met483Ile) n.381+17G>A c.1369+17G>A (n.1369+17G>A) c.438G>A (p.Met146Ile) c.1383G>A (p.Met461Ile) c.1335G>A (p.Met445Ile) n.766G>A c.375G>A (p.Met125Ile) c.229+17G>A (n.229+17G>A) c.246G>A (p.Met82Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145148C>G | CA367396755 | GCK | c.*1384G>C (n.*1384G>C) c.*506G>C (n.*506G>C) n.612G>C c.420G>C (p.Met140Ile) c.1389G>C (p.Met463Ile) c.1386G>C (p.Met462Ile) c.1449G>C (p.Met483Ile) n.381+17G>C c.1369+17G>C (n.1369+17G>C) c.438G>C (p.Met146Ile) c.1383G>C (p.Met461Ile) c.1335G>C (p.Met445Ile) n.766G>C c.375G>C (p.Met125Ile) c.229+17G>C (n.229+17G>C) c.246G>C (p.Met82Ile) | dbSNP |
| 7 | g.44145148C= | CA1703612641 | GCK | c.*1384G= (n.*1384G=) c.*506G= (n.*506G=) n.612G= c.420G= (p.Met140=) c.1389G= (p.Met463=) c.1386G= (p.Met462=) c.1449G= (p.Met483=) n.381+17G= c.1369+17G= (n.1369+17G=) c.438G= (p.Met146=) c.1383G= (p.Met461=) c.1335G= (p.Met445=) n.766G= c.375G= (p.Met125=) c.229+17G= (n.229+17G=) c.246G= (p.Met82=) | dbSNP |