Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.93997920_94002690del | CA10576058 | ABCA4 | c.6148-698_6670del c.2524-698_3046del | ClinVar |
1 | g.93997920_94002690delinsCTAGGGAGGTGCACA | CA645372243 | ABCA4 | c.6148-698_6670delinsTGTGCACCTCCCTAG c.2524-698_3046delinsTGTGCACCTCCCTAG | |
1 | g.94001885G>A | CA227382 | ABCA4 | c.6255C>T (p.Leu2085=) n.671C>T c.2631C>T (p.Leu877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94001885G>C | CA418811940 | ABCA4 | c.6255C>G (p.Leu2085=) n.671C>G c.2631C>G (p.Leu877=) | |
1 | g.94001885G= | CA1140725996 | ABCA4 | c.6255C= (p.Leu2085=) n.671C= c.2631C= (p.Leu877=) | |
1 | g.94001885G>T | CA418811943 | ABCA4 | c.6255C>A (p.Leu2085=) n.671C>A c.2631C>A (p.Leu877=) | |
1 | g.94001886A>C | CA341278186 | ABCA4 | c.6254T>G (p.Leu2085Arg) n.670T>G c.2630T>G (p.Leu877Arg) | |
1 | g.94001886A>G | CA341278184 | ABCA4 | c.6254T>C (p.Leu2085Pro) n.670T>C c.2630T>C (p.Leu877Pro) | |
1 | g.94001886A>T | CA341278182 | ABCA4 | c.6254T>A (p.Leu2085His) n.670T>A c.2630T>A (p.Leu877His) | |
1 | g.94001887G>A | CA956981 | ABCA4 | c.6253C>T (p.Leu2085Phe) n.669C>T c.2629C>T (p.Leu877Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001887G>C | CA341278189 | ABCA4 | c.6253C>G (p.Leu2085Val) n.669C>G c.2629C>G (p.Leu877Val) | gnomAD v4 |
1 | g.94001887G= | CA1181398540 | ABCA4 | c.6253C= (p.Leu2085=) n.669C= c.2629C= (p.Leu877=) | |
1 | g.94001887G>T | CA341278190 | ABCA4 | c.6253C>A (p.Leu2085Ile) n.669C>A c.2629C>A (p.Leu877Ile) | |
1 | g.94001888T>A | CA418811956 | ABCA4 | c.6252A>T (p.Ala2084=) n.668A>T c.2628A>T (p.Ala876=) | |
1 | g.94001888T>C | CA418811958 | ABCA4 | c.6252A>G (p.Ala2084=) n.668A>G c.2628A>G (p.Ala876=) | gnomAD v4 |
1 | g.94001888T>G | CA418811953 | ABCA4 | c.6252A>C (p.Ala2084=) n.668A>C c.2628A>C (p.Ala876=) | ClinVar dbSNP gnomAD v4 |
1 | g.94001888T= | CA1181398542 | ABCA4 | c.6252A= (p.Ala2084=) n.668A= c.2628A= (p.Ala876=) | |
1 | g.94001889G>A | CA956982 | ABCA4 | c.6251C>T (p.Ala2084Val) n.667C>T c.2627C>T (p.Ala876Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001889G>C | CA341278191 | ABCA4 | c.6251C>G (p.Ala2084Gly) n.667C>G c.2627C>G (p.Ala876Gly) | |
1 | g.94001889G= | CA1181398545 | ABCA4 | c.6251C= (p.Ala2084=) n.667C= c.2627C= (p.Ala876=) | |
1 | g.94001889G>T | CA341278192 | ABCA4 | c.6251C>A (p.Ala2084Glu) n.667C>A c.2627C>A (p.Ala876Glu) | |
1 | g.94001890C>A | CA341278193 | ABCA4 | c.6250G>T (p.Ala2084Ser) n.666G>T c.2626G>T (p.Ala876Ser) | COSMIC |
1 | g.94001890C= | CA1181398549 | ABCA4 | c.6250G= (p.Ala2084=) n.666G= c.2626G= (p.Ala876=) | |
1 | g.94001890C>G | CA341278194 | ABCA4 | c.6250G>C (p.Ala2084Pro) n.666G>C c.2626G>C (p.Ala876Pro) | ClinVar |
1 | g.94001890C>T | CA341278195 | ABCA4 | c.6250G>A (p.Ala2084Thr) n.666G>A c.2626G>A (p.Ala876Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.94001891G>A | CA202924 | ABCA4 | c.6249C>T (p.Ile2083=) n.665C>T c.2625C>T (p.Ile875=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001891G>C | CA956983 | ABCA4 | c.6249C>G (p.Ile2083Met) n.665C>G c.2625C>G (p.Ile875Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001891G= | CA1139894820 | ABCA4 | c.6249C= (p.Ile2083=) n.665C= c.2625C= (p.Ile875=) | |
1 | g.94001891G>T | CA418811984 | ABCA4 | c.6249C>A (p.Ile2083=) n.665C>A c.2625C>A (p.Ile875=) | ClinVar dbSNP |
1 | g.94001892A>C | CA341278198 | ABCA4 | c.6248T>G (p.Ile2083Ser) n.664T>G c.2624T>G (p.Ile875Ser) | |
1 | g.94001892A>G | CA341278197 | ABCA4 | c.6248T>C (p.Ile2083Thr) n.664T>C c.2624T>C (p.Ile875Thr) | |
1 | g.94001892A>T | CA341278196 | ABCA4 | c.6248T>A (p.Ile2083Asn) n.664T>A c.2624T>A (p.Ile875Asn) | |
1 | g.94001893T>A | CA341278199 | ABCA4 | c.6247A>T (p.Ile2083Phe) n.663A>T c.2623A>T (p.Ile875Phe) | |
1 | g.94001893T>C | CA341278200 | ABCA4 | c.6247A>G (p.Ile2083Val) n.663A>G c.2623A>G (p.Ile875Val) | gnomAD v4 |
1 | g.94001893T>G | CA341278201 | ABCA4 | c.6247A>C (p.Ile2083Leu) n.663A>C c.2623A>C (p.Ile875Leu) | |
1 | g.94001894G>A | CA418811989 | ABCA4 | c.6246C>T (p.Ala2082=) n.662C>T c.2622C>T (p.Ala874=) | |
1 | g.94001894G>C | CA418811992 | ABCA4 | c.6246C>G (p.Ala2082=) n.662C>G c.2622C>G (p.Ala874=) | gnomAD v4 |
1 | g.94001894G>T | CA418811990 | ABCA4 | c.6246C>A (p.Ala2082=) n.662C>A c.2622C>A (p.Ala874=) | |
1 | g.94001895G>A | CA341278202 | ABCA4 | c.6245C>T (p.Ala2082Val) n.661C>T c.2621C>T (p.Ala874Val) | ClinVar dbSNP |
1 | g.94001895G>C | CA341278203 | ABCA4 | c.6245C>G (p.Ala2082Gly) n.661C>G c.2621C>G (p.Ala874Gly) | gnomAD v4 |
1 | g.94001895G= | CA1181398558 | ABCA4 | c.6245C= (p.Ala2082=) n.661C= c.2621C= (p.Ala874=) | |
1 | g.94001895G>T | CA341278204 | ABCA4 | c.6245C>A (p.Ala2082Asp) n.661C>A c.2621C>A (p.Ala874Asp) | |
1 | g.94001896C>A | CA341278205 | ABCA4 | c.6244G>T (p.Ala2082Ser) n.660G>T c.2620G>T (p.Ala874Ser) | |
1 | g.94001896C>G | CA341278206 | ABCA4 | c.6244G>C (p.Ala2082Pro) n.660G>C c.2620G>C (p.Ala874Pro) | |
1 | g.94001896C>T | CA341278207 | ABCA4 | c.6244G>A (p.Ala2082Thr) n.660G>A c.2620G>A (p.Ala874Thr) | |
1 | g.94001897T>A | CA418812001 | ABCA4 | c.6243A>T (p.Thr2081=) n.659A>T c.2619A>T (p.Thr873=) | |
1 | g.94001897T>C | CA418812002 | ABCA4 | c.6243A>G (p.Thr2081=) n.659A>G c.2619A>G (p.Thr873=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001897T>G | CA418812004 | ABCA4 | c.6243A>C (p.Thr2081=) n.659A>C c.2619A>C (p.Thr873=) | |
1 | g.94001897T= | CA1181398560 | ABCA4 | c.6243A= (p.Thr2081=) n.659A= c.2619A= (p.Thr873=) | |
1 | g.94001898G>A | CA341278208 | ABCA4 | c.6242C>T (p.Thr2081Ile) n.658C>T c.2618C>T (p.Thr873Ile) | dbSNP gnomAD v4 |