| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48714023G>T | CA1653267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.568C>A (p.Gln190Lys) c.3441+42343G>T (n.3441+42343G>T) n.91C>A c.277-18870G>T (n.277-18870G>T) c.493C>A (p.Gln165Lys) c.-69C>A (n.-69C>A) c.499C>A (p.Gln167Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48714023G= | CA1248614389 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.568C= (p.Gln190=) c.3441+42343G= (n.3441+42343G=) n.91C= c.277-18870G= (n.277-18870G=) c.493C= (p.Gln165=) c.-69C= (n.-69C=) c.499C= (p.Gln167=) | dbSNP |
| 2 | g.48714023G>A | CA346756912 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.568C>T (p.Gln190Ter) c.3441+42343G>A (n.3441+42343G>A) n.91C>T c.277-18870G>A (n.277-18870G>A) c.493C>T (p.Gln165Ter) c.-69C>T (n.-69C>T) c.499C>T (p.Gln167Ter) | dbSNP gnomAD v4 |