Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128775141T>A | CA457569840 | OPN1SW | c.357A>T (p.Gly119=) c.366A>T (p.Gly122=) | |
7 | g.128775141T>C | CA457569842 | OPN1SW | c.357A>G (p.Gly119=) c.366A>G (p.Gly122=) | |
7 | g.128775141T>G | CA4472961 | OPN1SW | c.357A>C (p.Gly119=) c.366A>C (p.Gly122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128775141T= | CA1742521323 | OPN1SW | c.357A= (p.Gly119=) c.366A= (p.Gly122=) | |
7 | g.128775142C>A | CA369220915 | OPN1SW | c.356G>T (p.Gly119Val) c.365G>T (p.Gly122Val) | |
7 | g.128775142C>G | CA369220916 | OPN1SW | c.356G>C (p.Gly119Ala) c.365G>C (p.Gly122Ala) | |
7 | g.128775142C>T | CA369220919 | OPN1SW | c.356G>A (p.Gly119Glu) c.365G>A (p.Gly122Glu) | ClinVar |
7 | g.128775143C>A | CA369220921 | OPN1SW | c.355G>T (p.Gly119Ter) c.364G>T (p.Gly122Ter) | |
7 | g.128775143C>G | CA369220922 | OPN1SW | c.355G>C (p.Gly119Arg) c.364G>C (p.Gly122Arg) | |
7 | g.128775143C>T | CA369220924 | OPN1SW | c.355G>A (p.Gly119Arg) c.364G>A (p.Gly122Arg) | gnomAD v4 |
7 | g.128775144T>A | CA457569851 | OPN1SW | c.354A>T (p.Thr118=) c.363A>T (p.Thr121=) | gnomAD v4 |
7 | g.128775144T>C | CA457569848 | OPN1SW | c.354A>G (p.Thr118=) c.363A>G (p.Thr121=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128775144T>G | CA457569849 | OPN1SW | c.354A>C (p.Thr118=) c.363A>C (p.Thr121=) | dbSNP |
7 | g.128775144T= | CA1742521330 | OPN1SW | c.354A= (p.Thr118=) c.363A= (p.Thr121=) | |
7 | g.128775145G>A | CA166212669 | OPN1SW | c.353C>T (p.Thr118Ile) c.362C>T (p.Thr121Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128775145G>C | CA369220926 | OPN1SW | c.353C>G (p.Thr118Arg) c.362C>G (p.Thr121Arg) | |
7 | g.128775145G= | CA1742521336 | OPN1SW | c.353C= (p.Thr118=) c.362C= (p.Thr121=) | |
7 | g.128775145G>T | CA369220929 | OPN1SW | c.353C>A (p.Thr118Lys) c.362C>A (p.Thr121Lys) | |
7 | g.128775146T>A | CA369220944 | OPN1SW | c.352A>T (p.Thr118Ser) c.361A>T (p.Thr121Ser) | |
7 | g.128775146T>C | CA369220935 | OPN1SW | c.352A>G (p.Thr118Ala) c.361A>G (p.Thr121Ala) | |
7 | g.128775146T>G | CA369220931 | OPN1SW | c.352A>C (p.Thr118Pro) c.361A>C (p.Thr121Pro) | |
7 | g.128775147A>C | CA457569855 | OPN1SW | c.351T>G (p.Val117=) c.360T>G (p.Val120=) | |
7 | g.128775147A>G | CA457569857 | OPN1SW | c.351T>C (p.Val117=) c.360T>C (p.Val120=) | |
7 | g.128775147A>T | CA457569858 | OPN1SW | c.351T>A (p.Val117=) c.360T>A (p.Val120=) | |
7 | g.128775148A>C | CA369220949 | OPN1SW | c.350T>G (p.Val117Gly) c.359T>G (p.Val120Gly) | |
7 | g.128775148A>G | CA369220960 | OPN1SW | c.350T>C (p.Val117Ala) c.359T>C (p.Val120Ala) | |
7 | g.128775148A>T | CA369220963 | OPN1SW | c.350T>A (p.Val117Asp) c.359T>A (p.Val120Asp) | |
7 | g.128775149C>A | CA369220967 | OPN1SW | c.349G>T (p.Val117Phe) c.358G>T (p.Val120Phe) | |
7 | g.128775149C>G | CA369220969 | OPN1SW | c.349G>C (p.Val117Leu) c.358G>C (p.Val120Leu) | gnomAD v4 |
7 | g.128775149C>T | CA369220973 | OPN1SW | c.349G>A (p.Val117Ile) c.358G>A (p.Val120Ile) | |
7 | g.128775150C>A | CA457569864 | OPN1SW | c.348G>T (p.Leu116=) c.357G>T (p.Leu119=) | gnomAD v4 |
7 | g.128775150C= | CA1742521338 | OPN1SW | c.348G= (p.Leu116=) c.357G= (p.Leu119=) | |
7 | g.128775150C>G | CA4472962 | OPN1SW | c.348G>C (p.Leu116=) c.357G>C (p.Leu119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128775150C>T | CA457569866 | OPN1SW | c.348G>A (p.Leu116=) c.357G>A (p.Leu119=) | |
7 | g.128775151A>C | CA369220977 | OPN1SW | c.347T>G (p.Leu116Arg) c.356T>G (p.Leu119Arg) | gnomAD v4 |
7 | g.128775151A>G | CA369220982 | OPN1SW | c.347T>C (p.Leu116Pro) c.356T>C (p.Leu119Pro) | |
7 | g.128775151A>T | CA369220985 | OPN1SW | c.347T>A (p.Leu116Gln) c.356T>A (p.Leu119Gln) | |
7 | g.128775152G>A | CA4472963 | OPN1SW | c.346C>T (p.Leu116=) c.355C>T (p.Leu119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128775152G>C | CA369220997 | OPN1SW | c.346C>G (p.Leu116Val) c.355C>G (p.Leu119Val) | |
7 | g.128775152G= | CA1742521343 | OPN1SW | c.346C= (p.Leu116=) c.355C= (p.Leu119=) | |
7 | g.128775152G>T | CA369221000 | OPN1SW | c.346C>A (p.Leu116Met) c.355C>A (p.Leu119Met) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128775153A>C | CA457569872 | OPN1SW | c.345T>G (p.Gly115=) c.354T>G (p.Gly118=) | |
7 | g.128775153A>G | CA457569874 | OPN1SW | c.345T>C (p.Gly115=) c.354T>C (p.Gly118=) | |
7 | g.128775153A>T | CA457569875 | OPN1SW | c.345T>A (p.Gly115=) c.354T>A (p.Gly118=) | |
7 | g.128775154C>A | CA369221007 | OPN1SW | c.344G>T (p.Gly115Val) c.353G>T (p.Gly118Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128775154C= | CA1742521346 | OPN1SW | c.344G= (p.Gly115=) c.353G= (p.Gly118=) | |
7 | g.128775154C>G | CA369221008 | OPN1SW | c.344G>C (p.Gly115Ala) c.353G>C (p.Gly118Ala) | |
7 | g.128775154C>T | CA369221003 | OPN1SW | c.344G>A (p.Gly115Asp) c.353G>A (p.Gly118Asp) | gnomAD v4 |
7 | g.128775155C>A | CA369221013 | OPN1SW | c.344-1G>T (n.344-1G>T) c.353-1G>T (n.353-1G>T) | |
7 | g.128775155C>G | CA369221015 | OPN1SW | c.344-1G>C (n.344-1G>C) c.353-1G>C (n.353-1G>C) |