| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688065C>A | CA214133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G>T (p.Asp578Tyr) c.*44G>T (n.*44G>T) c.3441+16385C>A (n.3441+16385C>A) c.*476G>T (n.*476G>T) c.1651G>T (p.Asp551Tyr) c.276+16385C>A (n.276+16385C>A) c.*220+6159G>T (n.*220+6159G>T) c.775G>T (p.Asp259Tyr) c.802G>T (p.Asp268Tyr) c.1657G>T (p.Asp553Tyr) c.1471G>T (p.Asp491Tyr) c.1390G>T (p.Asp464Tyr) c.1096G>T (p.Asp366Tyr) c.1477G>T (p.Asp493Tyr) | ClinVar dbSNP |
| 2 | g.48688065C>G | CA123930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G>C (p.Asp578His) c.*44G>C (n.*44G>C) c.3441+16385C>G (n.3441+16385C>G) c.*476G>C (n.*476G>C) c.1651G>C (p.Asp551His) c.276+16385C>G (n.276+16385C>G) c.*220+6159G>C (n.*220+6159G>C) c.775G>C (p.Asp259His) c.802G>C (p.Asp268His) c.1657G>C (p.Asp553His) c.1471G>C (p.Asp491His) c.1390G>C (p.Asp464His) c.1096G>C (p.Asp366His) c.1477G>C (p.Asp493His) | ClinVar dbSNP |
| 2 | g.48688065C>T | CA1652997 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1732G>A (p.Asp578Asn) c.*44G>A (n.*44G>A) c.3441+16385C>T (n.3441+16385C>T) c.*476G>A (n.*476G>A) c.1651G>A (p.Asp551Asn) c.276+16385C>T (n.276+16385C>T) c.*220+6159G>A (n.*220+6159G>A) c.775G>A (p.Asp259Asn) c.802G>A (p.Asp268Asn) c.1657G>A (p.Asp553Asn) c.1471G>A (p.Asp491Asn) c.1390G>A (p.Asp464Asn) c.1096G>A (p.Asp366Asn) c.1477G>A (p.Asp493Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |