| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688694A>G | CA123932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>C (p.Leu368Pro) c.948-555T>C (n.948-555T>C) c.3441+17014A>G (n.3441+17014A>G) c.948-111T>C (n.948-111T>C) c.1022T>C (p.Leu341Pro) c.276+17014A>G (n.276+17014A>G) c.*220+5530T>C (n.*220+5530T>C) c.146T>C (p.Leu49Pro) c.173T>C (p.Leu58Pro) c.1028T>C (p.Leu343Pro) c.842T>C (p.Leu281Pro) c.761T>C (p.Leu254Pro) c.467T>C (p.Leu156Pro) c.848T>C (p.Leu283Pro) | ClinVar dbSNP |
| 2 | g.48688694A= | CA1248601236 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T= (p.Leu368=) c.948-555T= (n.948-555T=) c.3441+17014A= (n.3441+17014A=) c.948-111T= (n.948-111T=) c.1022T= (p.Leu341=) c.276+17014A= (n.276+17014A=) c.*220+5530T= (n.*220+5530T=) c.146T= (p.Leu49=) c.173T= (p.Leu58=) c.1028T= (p.Leu343=) c.842T= (p.Leu281=) c.761T= (p.Leu254=) c.467T= (p.Leu156=) c.848T= (p.Leu283=) | dbSNP |