| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121001150C>T | CA6832207 | C12orf43,HNF1A | c.*601C>T (n.*601C>T) c.1854C>T (p.Ile618=) c.*3003G>A (n.*3003G>A) c.*1294C>T (n.*1294C>T) c.1947C>T (p.Ile649=) c.1317C>T (p.Ile439=) c.1875C>T (p.Ile625=) c.1671C>T c.642C>T (p.Ile214=) c.*263C>T (n.*263C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121001150C>G | CA214683 | C12orf43,HNF1A | c.*601C>G (n.*601C>G) c.1854C>G (p.Ile618Met) c.*3003G>C (n.*3003G>C) c.*1294C>G (n.*1294C>G) c.1947C>G (p.Ile649Met) c.1317C>G (p.Ile439Met) c.1875C>G (p.Ile625Met) c.1671C>G c.642C>G (p.Ile214Met) c.*263C>G (n.*263C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121001150C= | CA2067687567 | C12orf43,HNF1A | c.*601C= (n.*601C=) c.1854C= (p.Ile618=) c.*3003G= (n.*3003G=) c.*1294C= (n.*1294C=) c.1947C= (p.Ile649=) c.1317C= (p.Ile439=) c.1875C= (p.Ile625=) c.1671C= c.642C= (p.Ile214=) c.*263C= (n.*263C=) | dbSNP |