| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688737C>T | CA123927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>A (p.Glu354Lys) c.948-598G>A (n.948-598G>A) c.3441+17057C>T (n.3441+17057C>T) c.948-154G>A (n.948-154G>A) c.979G>A (p.Glu327Lys) c.276+17057C>T (n.276+17057C>T) c.*220+5487G>A (n.*220+5487G>A) c.103G>A (p.Glu35Lys) c.130G>A (p.Glu44Lys) c.985G>A (p.Glu329Lys) c.799G>A (p.Glu267Lys) c.718G>A (p.Glu240Lys) c.424G>A (p.Glu142Lys) c.805G>A (p.Glu269Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.48688737C= | CA1248601250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G= (p.Glu354=) c.948-598G= (n.948-598G=) c.3441+17057C= (n.3441+17057C=) c.948-154G= (n.948-154G=) c.979G= (p.Glu327=) c.276+17057C= (n.276+17057C=) c.*220+5487G= (n.*220+5487G=) c.103G= (p.Glu35=) c.130G= (p.Glu44=) c.985G= (p.Glu329=) c.799G= (p.Glu267=) c.718G= (p.Glu240=) c.424G= (p.Glu142=) c.805G= (p.Glu269=) | dbSNP |