| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48688084C>T | CA123917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>A (p.Met571Ile) c.*25G>A (n.*25G>A) c.3441+16404C>T (n.3441+16404C>T) c.*457G>A (n.*457G>A) c.1632G>A (p.Met544Ile) c.276+16404C>T (n.276+16404C>T) c.*220+6140G>A (n.*220+6140G>A) c.756G>A (p.Met252Ile) c.783G>A (p.Met261Ile) c.1638G>A (p.Met546Ile) c.1452G>A (p.Met484Ile) c.1371G>A (p.Met457Ile) c.1077G>A (p.Met359Ile) c.1458G>A (p.Met486Ile) | ClinVar dbSNP |
| 2 | g.48688084C>A | CA346745029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G>T (p.Met571Ile) c.*25G>T (n.*25G>T) c.3441+16404C>A (n.3441+16404C>A) c.*457G>T (n.*457G>T) c.1632G>T (p.Met544Ile) c.276+16404C>A (n.276+16404C>A) c.*220+6140G>T (n.*220+6140G>T) c.756G>T (p.Met252Ile) c.783G>T (p.Met261Ile) c.1638G>T (p.Met546Ile) c.1452G>T (p.Met484Ile) c.1371G>T (p.Met457Ile) c.1077G>T (p.Met359Ile) c.1458G>T (p.Met486Ile) | ClinVar dbSNP |
| 2 | g.48688084C= | CA1248600982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1713G= (p.Met571=) c.*25G= (n.*25G=) c.3441+16404C= (n.3441+16404C=) c.*457G= (n.*457G=) c.1632G= (p.Met544=) c.276+16404C= (n.276+16404C=) c.*220+6140G= (n.*220+6140G=) c.756G= (p.Met252=) c.783G= (p.Met261=) c.1638G= (p.Met546=) c.1452G= (p.Met484=) c.1371G= (p.Met457=) c.1077G= (p.Met359=) c.1458G= (p.Met486=) | dbSNP |