| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688326A>G | CA16617732 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1471T>C (p.Trp491Arg) c.948-187T>C (n.948-187T>C) c.3441+16646A>G (n.3441+16646A>G) c.*215T>C (n.*215T>C) c.1390T>C (p.Trp464Arg) c.276+16646A>G (n.276+16646A>G) c.*220+5898T>C (n.*220+5898T>C) c.514T>C (p.Trp172Arg) c.541T>C (p.Trp181Arg) c.1396T>C (p.Trp466Arg) c.1210T>C (p.Trp404Arg) c.1129T>C (p.Trp377Arg) c.835T>C (p.Trp279Arg) c.1216T>C (p.Trp406Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48688326A= | CA1248601082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1471T= (p.Trp491=) c.948-187T= (n.948-187T=) c.3441+16646A= (n.3441+16646A=) c.*215T= (n.*215T=) c.1390T= (p.Trp464=) c.276+16646A= (n.276+16646A=) c.*220+5898T= (n.*220+5898T=) c.514T= (p.Trp172=) c.541T= (p.Trp181=) c.1396T= (p.Trp466=) c.1210T= (p.Trp404=) c.1129T= (p.Trp377=) c.835T= (p.Trp279=) c.1216T= (p.Trp406=) | dbSNP |