Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68438981T>A | CA340744727 | RPE65 | c.959A>T (p.Asp320Val) c.683A>T (p.Asp228Val) | |
1 | g.68438981T>C | CA340744729 | RPE65 | c.959A>G (p.Asp320Gly) c.683A>G (p.Asp228Gly) | |
1 | g.68438981T>G | CA340744730 | RPE65 | c.959A>C (p.Asp320Ala) c.683A>C (p.Asp228Ala) | |
1 | g.68438982C>A | CA340744736 | RPE65 | c.958G>T (p.Asp320Tyr) c.682G>T (p.Asp228Tyr) | |
1 | g.68438982C>G | CA340744732 | RPE65 | c.958G>C (p.Asp320His) c.682G>C (p.Asp228His) | |
1 | g.68438982C>T | CA340744734 | RPE65 | c.958G>A (p.Asp320Asn) c.682G>A (p.Asp228Asn) | |
1 | g.68438983T>A | CA340744737 | RPE65 | c.957A>T (p.Glu319Asp) c.681A>T (p.Glu227Asp) | COSMIC |
1 | g.68438983T>C | CA902338 | RPE65 | c.957A>G (p.Glu319=) c.681A>G (p.Glu227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68438983T>G | CA340744740 | RPE65 | c.957A>C (p.Glu319Asp) c.681A>C (p.Glu227Asp) | gnomAD v4 |
1 | g.68438983T= | CA1173561145 | RPE65 | c.957A= (p.Glu319=) c.681A= (p.Glu227=) | |
1 | g.68438984T>A | CA340744741 | RPE65 | c.956A>T (p.Glu319Val) c.680A>T (p.Glu227Val) | gnomAD v4 |
1 | g.68438984T>C | CA340744742 | RPE65 | c.956A>G (p.Glu319Gly) c.680A>G (p.Glu227Gly) | |
1 | g.68438984T>G | CA340744744 | RPE65 | c.956A>C (p.Glu319Ala) c.680A>C (p.Glu227Ala) | |
1 | g.68438984_68438989del | CA2586966734 | RPE65 | c.951_956del (p.Tyr318_Glu319del) c.675_680del (p.Tyr226_Glu227del) | gnomAD v4 |
1 | g.68438985C>A | CA340744747 | RPE65 | c.955G>T (p.Glu319Ter) c.679G>T (p.Glu227Ter) | |
1 | g.68438985C>G | CA340744748 | RPE65 | c.955G>C (p.Glu319Gln) c.679G>C (p.Glu227Gln) | |
1 | g.68438985C>T | CA340744749 | RPE65 | c.955G>A (p.Glu319Lys) c.679G>A (p.Glu227Lys) | gnomAD v4 |
1 | g.68438986A= | CA1173561146 | RPE65 | c.954T= (p.Tyr318=) c.678T= (p.Tyr226=) | |
1 | g.68438986A>C | CA340744752 | RPE65 | c.954T>G (p.Tyr318Ter) c.678T>G (p.Tyr226Ter) | |
1 | g.68438986A>G | CA418279786 | RPE65 | c.954T>C (p.Tyr318=) c.678T>C (p.Tyr226=) | ClinVar dbSNP gnomAD v4 |
1 | g.68438986A>T | CA340744754 | RPE65 | c.954T>A (p.Tyr318Ter) c.678T>A (p.Tyr226Ter) | |
1 | g.68438987T>A | CA340744757 | RPE65 | c.953A>T (p.Tyr318Phe) c.677A>T (p.Tyr226Phe) | gnomAD v4 |
1 | g.68438987T>C | CA902339 | RPE65 | c.953A>G (p.Tyr318Cys) c.677A>G (p.Tyr226Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68438987T>G | CA340744755 | RPE65 | c.953A>C (p.Tyr318Ser) c.677A>C (p.Tyr226Ser) | |
1 | g.68438987T= | CA1173561147 | RPE65 | c.953A= (p.Tyr318=) c.677A= (p.Tyr226=) | |
1 | g.68438988A= | CA1140725765 | RPE65 | c.952T= (p.Tyr318=) c.676T= (p.Tyr226=) | |
1 | g.68438988A>C | CA340744759 | RPE65 | c.952T>G (p.Tyr318Asp) c.676T>G (p.Tyr226Asp) | |
1 | g.68438988A>G | CA340744760 | RPE65 | c.952T>C (p.Tyr318His) c.676T>C (p.Tyr226His) | |
1 | g.68438988A>T | CA226592 | RPE65 | c.952T>A (p.Tyr318Asn) c.676T>A (p.Tyr226Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68438989G>A | CA418279796 | RPE65 | c.951C>T (p.Thr317=) c.675C>T (p.Thr225=) | ClinVar dbSNP |
1 | g.68438989G>C | CA418279798 | RPE65 | c.951C>G (p.Thr317=) c.675C>G (p.Thr225=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.68438989G= | CA1173561148 | RPE65 | c.951C= (p.Thr317=) c.675C= (p.Thr225=) | |
1 | g.68438989G>T | CA418279799 | RPE65 | c.951C>A (p.Thr317=) c.675C>A (p.Thr225=) | |
1 | g.68438990G>A | CA340744763 | RPE65 | c.950C>T (p.Thr317Ile) c.674C>T (p.Thr225Ile) | |
1 | g.68438990G>C | CA340744765 | RPE65 | c.950C>G (p.Thr317Ser) c.674C>G (p.Thr225Ser) | |
1 | g.68438990G>T | CA340744766 | RPE65 | c.950C>A (p.Thr317Asn) c.674C>A (p.Thr225Asn) | |
1 | g.68438993_68439000del | CA2499214841 | RPE65 | c.943_950del (p.Ile315LeufsTer2) c.667_674del (p.Ile223LeufsTer2) | ClinVar dbSNP |
1 | g.68438991T>A | CA340744769 | RPE65 | c.949A>T (p.Thr317Ser) c.673A>T (p.Thr225Ser) | |
1 | g.68438991T>C | CA340744771 | RPE65 | c.949A>G (p.Thr317Ala) c.673A>G (p.Thr225Ala) | |
1 | g.68438991T>G | CA340744773 | RPE65 | c.949A>C (p.Thr317Pro) c.673A>C (p.Thr225Pro) | |
1 | g.68438992G>A | CA418279809 | RPE65 | c.948C>T (p.Asn316=) c.672C>T (p.Asn224=) | ClinVar dbSNP gnomAD v4 |
1 | g.68438992G>C | CA340744775 | RPE65 | c.948C>G (p.Asn316Lys) c.672C>G (p.Asn224Lys) | |
1 | g.68438992G>T | CA340744777 | RPE65 | c.948C>A (p.Asn316Lys) c.672C>A (p.Asn224Lys) | |
1 | g.68438993T>A | CA340744782 | RPE65 | c.947A>T (p.Asn316Ile) c.671A>T (p.Asn224Ile) | |
1 | g.68438993T>C | CA340744780 | RPE65 | c.947A>G (p.Asn316Ser) c.671A>G (p.Asn224Ser) | |
1 | g.68438993T>G | CA340744779 | RPE65 | c.947A>C (p.Asn316Thr) c.671A>C (p.Asn224Thr) | |
1 | g.68438994T>A | CA340744784 | RPE65 | c.946A>T (p.Asn316Tyr) c.670A>T (p.Asn224Tyr) | |
1 | g.68438994T>C | CA340744786 | RPE65 | c.946A>G (p.Asn316Asp) c.670A>G (p.Asn224Asp) | ClinVar dbSNP |
1 | g.68438994T>G | CA340744788 | RPE65 | c.946A>C (p.Asn316His) c.670A>C (p.Asn224His) | |
1 | g.68438995G>A | CA418279818 | RPE65 | c.945C>T (p.Ile315=) c.669C>T (p.Ile223=) | ClinVar gnomAD v4 |