| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37731678T>C | CA214373 | HNF1B | c.962A>G (p.Asn321Ser) c.884A>G (p.Asn295Ser) n.414A>G c.865A>G (p.Thr289Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37731678T= | CA3223295356 | HNF1B | c.962A= (p.Asn321=) c.884A= (p.Asn295=) n.414A= c.865A= (p.Thr289=) | dbSNP |
| 17 | g.37731678T>A | CA398746456 | HNF1B | c.962A>T (p.Asn321Ile) c.884A>T (p.Asn295Ile) n.414A>T c.865A>T (p.Thr289Ser) | dbSNP |