Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128775041C>A | CA369220355 | OPN1SW | c.457G>T (p.Ala153Ser) c.466G>T (p.Ala156Ser) | |
7 | g.128775041C>G | CA369220356 | OPN1SW | c.457G>C (p.Ala153Pro) c.466G>C (p.Ala156Pro) | |
7 | g.128775041C>T | CA369220358 | OPN1SW | c.457G>A (p.Ala153Thr) c.466G>A (p.Ala156Thr) | |
7 | g.128775041_128775042del | CA2579012994 | OPN1SW | c.456_457del (p.Ala153TyrfsTer22) c.465_466del (p.Ala156TyrfsTer22) | |
7 | g.128775042C>A | CA457569587 | OPN1SW | c.456G>T (p.Leu152=) c.465G>T (p.Leu155=) | |
7 | g.128775042C= | CA1742521143 | OPN1SW | c.456G= (p.Leu152=) c.465G= (p.Leu155=) | |
7 | g.128775042C>G | CA4472938 | OPN1SW | c.456G>C (p.Leu152=) c.465G>C (p.Leu155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128775042C>T | CA457569589 | OPN1SW | c.456G>A (p.Leu152=) c.465G>A (p.Leu155=) | dbSNP |
7 | g.128775043A>C | CA369220363 | OPN1SW | c.455T>G (p.Leu152Arg) c.464T>G (p.Leu155Arg) | |
7 | g.128775043A>G | CA369220364 | OPN1SW | c.455T>C (p.Leu152Pro) c.464T>C (p.Leu155Pro) | |
7 | g.128775043A>T | CA369220366 | OPN1SW | c.455T>A (p.Leu152Gln) c.464T>A (p.Leu155Gln) | |
7 | g.128775044G>A | CA457569594 | OPN1SW | c.454C>T (p.Leu152=) c.463C>T (p.Leu155=) | dbSNP |
7 | g.128775044G>C | CA369220370 | OPN1SW | c.454C>G (p.Leu152Val) c.463C>G (p.Leu155Val) | |
7 | g.128775044G= | CA1742521147 | OPN1SW | c.454C= (p.Leu152=) c.463C= (p.Leu155=) | |
7 | g.128775044G>T | CA369220368 | OPN1SW | c.454C>A (p.Leu152Met) c.463C>A (p.Leu155Met) | |
7 | g.128775045G>A | CA457569597 | OPN1SW | c.453C>T (p.Val151=) c.462C>T (p.Val154=) | gnomAD v4 |
7 | g.128775045G>C | CA457569598 | OPN1SW | c.453C>G (p.Val151=) c.462C>G (p.Val154=) | |
7 | g.128775045G>T | CA457569600 | OPN1SW | c.453C>A (p.Val151=) c.462C>A (p.Val154=) | |
7 | g.128775046A>C | CA369220371 | OPN1SW | c.452T>G (p.Val151Gly) c.461T>G (p.Val154Gly) | |
7 | g.128775046A>G | CA369220375 | OPN1SW | c.452T>C (p.Val151Ala) c.461T>C (p.Val154Ala) | |
7 | g.128775046A>T | CA369220372 | OPN1SW | c.452T>A (p.Val151Asp) c.461T>A (p.Val154Asp) | |
7 | g.128775047C>A | CA369220376 | OPN1SW | c.451G>T (p.Val151Phe) c.460G>T (p.Val154Phe) | |
7 | g.128775047C= | CA1742521150 | OPN1SW | c.451G= (p.Val151=) c.460G= (p.Val154=) | |
7 | g.128775047C>G | CA369220377 | OPN1SW | c.451G>C (p.Val151Leu) c.460G>C (p.Val154Leu) | |
7 | g.128775047C>T | CA369220378 | OPN1SW | c.451G>A (p.Val151Ile) c.460G>A (p.Val154Ile) | dbSNP |
7 | g.128775048C>A | CA457569605 | OPN1SW | c.450G>T (p.Val150=) c.459G>T (p.Val153=) | |
7 | g.128775048C>G | CA457569607 | OPN1SW | c.450G>C (p.Val150=) c.459G>C (p.Val153=) | |
7 | g.128775048C>T | CA457569609 | OPN1SW | c.450G>A (p.Val150=) c.459G>A (p.Val153=) | gnomAD v4 |
7 | g.128775049A= | CA1742521155 | OPN1SW | c.449T= (p.Val150=) c.458T= (p.Val153=) | |
7 | g.128775049A>C | CA369220379 | OPN1SW | c.449T>G (p.Val150Gly) c.458T>G (p.Val153Gly) | |
7 | g.128775049A>G | CA369220380 | OPN1SW | c.449T>C (p.Val150Ala) c.458T>C (p.Val153Ala) | dbSNP gnomAD v2 |
7 | g.128775049A>T | CA369220381 | OPN1SW | c.449T>A (p.Val150Glu) c.458T>A (p.Val153Glu) | |
7 | g.128775050C>A | CA369220383 | OPN1SW | c.448G>T (p.Val150Leu) c.457G>T (p.Val153Leu) | |
7 | g.128775050C>G | CA369220385 | OPN1SW | c.448G>C (p.Val150Leu) c.457G>C (p.Val153Leu) | |
7 | g.128775050C>T | CA369220387 | OPN1SW | c.448G>A (p.Val150Met) c.457G>A (p.Val153Met) | |
7 | g.128775051C>A | CA457569615 | OPN1SW | c.447G>T (p.Thr149=) c.456G>T (p.Thr152=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128775051C= | CA1742521161 | OPN1SW | c.447G= (p.Thr149=) c.456G= (p.Thr152=) | |
7 | g.128775051C>G | CA457569617 | OPN1SW | c.447G>C (p.Thr149=) c.456G>C (p.Thr152=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128775051C>T | CA4472939 | OPN1SW | c.447G>A (p.Thr149=) c.456G>A (p.Thr152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128775052G>A | CA4472940 | OPN1SW | c.446C>T (p.Thr149Met) c.455C>T (p.Thr152Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128775052G>C | CA4472941 | OPN1SW | c.446C>G (p.Thr149Arg) c.455C>G (p.Thr152Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128775052G= | CA1742521165 | OPN1SW | c.446C= (p.Thr149=) c.455C= (p.Thr152=) | |
7 | g.128775052G>T | CA369220392 | OPN1SW | c.446C>A (p.Thr149Lys) c.455C>A (p.Thr152Lys) | |
7 | g.128775053T>A | CA369220395 | OPN1SW | c.445A>T (p.Thr149Ser) c.454A>T (p.Thr152Ser) | |
7 | g.128775053T>C | CA369220397 | OPN1SW | c.445A>G (p.Thr149Ala) c.454A>G (p.Thr152Ala) | gnomAD v4 |
7 | g.128775053T>G | CA4472942 | OPN1SW | c.445A>C (p.Thr149Pro) c.454A>C (p.Thr152Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128775053T= | CA1742521167 | OPN1SW | c.445A= (p.Thr149=) c.454A= (p.Thr152=) | |
7 | g.128775054C>A | CA457569623 | OPN1SW | c.444G>T (p.Leu148=) c.453G>T (p.Leu151=) | |
7 | g.128775054C>G | CA457569625 | OPN1SW | c.444G>C (p.Leu148=) c.453G>C (p.Leu151=) | |
7 | g.128775054C>T | CA457569627 | OPN1SW | c.444G>A (p.Leu148=) c.453G>A (p.Leu151=) | gnomAD v4 |