| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688082G>C | CA346745025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>G (p.Ala572Gly) c.*27C>G (n.*27C>G) c.3441+16402G>C (n.3441+16402G>C) c.*459C>G (n.*459C>G) c.1634C>G (p.Ala545Gly) c.276+16402G>C (n.276+16402G>C) c.*220+6142C>G (n.*220+6142C>G) c.758C>G (p.Ala253Gly) c.785C>G (p.Ala262Gly) c.1640C>G (p.Ala547Gly) c.1454C>G (p.Ala485Gly) c.1373C>G (p.Ala458Gly) c.1079C>G (p.Ala360Gly) c.1460C>G (p.Ala487Gly) | dbSNP |
| 2 | g.48688082G>A | CA123920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C>T (p.Ala572Val) c.*27C>T (n.*27C>T) c.3441+16402G>A (n.3441+16402G>A) c.*459C>T (n.*459C>T) c.1634C>T (p.Ala545Val) c.276+16402G>A (n.276+16402G>A) c.*220+6142C>T (n.*220+6142C>T) c.758C>T (p.Ala253Val) c.785C>T (p.Ala262Val) c.1640C>T (p.Ala547Val) c.1454C>T (p.Ala485Val) c.1373C>T (p.Ala458Val) c.1079C>T (p.Ala360Val) c.1460C>T (p.Ala487Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48688082G= | CA1248600981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1715C= (p.Ala572=) c.*27C= (n.*27C=) c.3441+16402G= (n.3441+16402G=) c.*459C= (n.*459C=) c.1634C= (p.Ala545=) c.276+16402G= (n.276+16402G=) c.*220+6142C= (n.*220+6142C=) c.758C= (p.Ala253=) c.785C= (p.Ala262=) c.1640C= (p.Ala547=) c.1454C= (p.Ala485=) c.1373C= (p.Ala458=) c.1079C= (p.Ala360=) c.1460C= (p.Ala487=) | dbSNP |