| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.53873846C>A | CA8058473 | FTO | c.956C>A (p.Ser319Tyr) c.336C>A n.983C>A c.938C>A (p.Ser313Tyr) c.*115C>A (n.*115C>A) c.986C>A (p.Ser329Tyr) c.878C>A (p.Ser293Tyr) c.842C>A (p.Ser281Tyr) c.812C>A (p.Ser271Tyr) c.443C>A (p.Ser148Tyr) n.489+29548C>A n.1233C>A | dbSNP ExAC gnomAD v4 |
| 16 | g.53873846C>T | CA248803 | FTO | c.956C>T (p.Ser319Phe) c.336C>T n.983C>T c.938C>T (p.Ser313Phe) c.*115C>T (n.*115C>T) c.986C>T (p.Ser329Phe) c.878C>T (p.Ser293Phe) c.842C>T (p.Ser281Phe) c.812C>T (p.Ser271Phe) c.443C>T (p.Ser148Phe) n.489+29548C>T n.1233C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.53873846C= | CA2223301455 | FTO | c.956C= (p.Ser319=) c.336C= n.983C= c.938C= (p.Ser313=) c.*115C= (n.*115C=) c.986C= (p.Ser329=) c.878C= (p.Ser293=) c.842C= (p.Ser281=) c.812C= (p.Ser271=) c.443C= (p.Ser148=) n.489+29548C= n.1233C= | dbSNP |
| 16 | g.53873846C>G | CA396120341 | FTO | c.956C>G (p.Ser319Cys) c.336C>G n.983C>G c.938C>G (p.Ser313Cys) c.*115C>G (n.*115C>G) c.986C>G (p.Ser329Cys) c.878C>G (p.Ser293Cys) c.842C>G (p.Ser281Cys) c.812C>G (p.Ser271Cys) c.443C>G (p.Ser148Cys) n.489+29548C>G n.1233C>G | dbSNP gnomAD v4 |