| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688679G>A | CA123926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>T (p.Ala373Val) c.948-540C>T (n.948-540C>T) c.3441+16999G>A (n.3441+16999G>A) c.948-96C>T (n.948-96C>T) c.1037C>T (p.Ala346Val) c.276+16999G>A (n.276+16999G>A) c.*220+5545C>T (n.*220+5545C>T) c.161C>T (p.Ala54Val) c.188C>T (p.Ala63Val) c.1043C>T (p.Ala348Val) c.857C>T (p.Ala286Val) c.776C>T (p.Ala259Val) c.482C>T (p.Ala161Val) c.863C>T (p.Ala288Val) | ClinVar dbSNP |
| 2 | g.48688679G>T | CA346749584 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C>A (p.Ala373Asp) c.948-540C>A (n.948-540C>A) c.3441+16999G>T (n.3441+16999G>T) c.948-96C>A (n.948-96C>A) c.1037C>A (p.Ala346Asp) c.276+16999G>T (n.276+16999G>T) c.*220+5545C>A (n.*220+5545C>A) c.161C>A (p.Ala54Asp) c.188C>A (p.Ala63Asp) c.1043C>A (p.Ala348Asp) c.857C>A (p.Ala286Asp) c.776C>A (p.Ala259Asp) c.482C>A (p.Ala161Asp) c.863C>A (p.Ala288Asp) | dbSNP |
| 2 | g.48688679G= | CA1248601230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1118C= (p.Ala373=) c.948-540C= (n.948-540C=) c.3441+16999G= (n.3441+16999G=) c.948-96C= (n.948-96C=) c.1037C= (p.Ala346=) c.276+16999G= (n.276+16999G=) c.*220+5545C= (n.*220+5545C=) c.161C= (p.Ala54=) c.188C= (p.Ala63=) c.1043C= (p.Ala348=) c.857C= (p.Ala286=) c.776C= (p.Ala259=) c.482C= (p.Ala161=) c.863C= (p.Ala288=) | dbSNP |