| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688427A>C | CA123934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1370T>G (p.Leu457Arg) c.948-288T>G (n.948-288T>G) c.3441+16747A>C (n.3441+16747A>C) c.*114T>G (n.*114T>G) c.1289T>G (p.Leu430Arg) c.276+16747A>C (n.276+16747A>C) c.*220+5797T>G (n.*220+5797T>G) c.413T>G (p.Leu138Arg) c.440T>G (p.Leu147Arg) c.1295T>G (p.Leu432Arg) c.1109T>G (p.Leu370Arg) c.1028T>G (p.Leu343Arg) c.734T>G (p.Leu245Arg) c.1115T>G (p.Leu372Arg) | ClinVar dbSNP |
| 2 | g.48688427A= | CA1248601129 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1370T= (p.Leu457=) c.948-288T= (n.948-288T=) c.3441+16747A= (n.3441+16747A=) c.*114T= (n.*114T=) c.1289T= (p.Leu430=) c.276+16747A= (n.276+16747A=) c.*220+5797T= (n.*220+5797T=) c.413T= (p.Leu138=) c.440T= (p.Leu147=) c.1295T= (p.Leu432=) c.1109T= (p.Leu370=) c.1028T= (p.Leu343=) c.734T= (p.Leu245=) c.1115T= (p.Leu372=) | dbSNP |