UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 1 | g.94001898G>C | CA341278209 | ABCA4 | c.6242C>G (p.Thr2081Arg) n.658C>G c.2618C>G (p.Thr873Arg) | |
| 1 | g.94001898G= | CA1181398562 | ABCA4 | c.6242C= (p.Thr2081=) n.658C= c.2618C= (p.Thr873=) | |
| 1 | g.94001898G>T | CA341278210 | ABCA4 | c.6242C>A (p.Thr2081Lys) n.658C>A c.2618C>A (p.Thr873Lys) | |
| 1 | g.94001899T>A | CA341278213 | ABCA4 | c.6241A>T (p.Thr2081Ser) n.657A>T c.2617A>T (p.Thr873Ser) | |
| 1 | g.94001899T>C | CA341278212 | ABCA4 | c.6241A>G (p.Thr2081Ala) n.657A>G c.2617A>G (p.Thr873Ala) | |
| 1 | g.94001899T>G | CA341278211 | ABCA4 | c.6241A>C (p.Thr2081Pro) n.657A>C c.2617A>C (p.Thr873Pro) | |
| 1 | g.94001900G>A | CA418812015 | ABCA4 | c.6240C>T (p.Ser2080=) n.656C>T c.2616C>T (p.Ser872=) | dbSNP |
| 1 | g.94001900G>C | CA418812016 | ABCA4 | c.6240C>G (p.Ser2080=) n.656C>G c.2616C>G (p.Ser872=) | |
| 1 | g.94001900G= | CA1181398566 | ABCA4 | c.6240C= (p.Ser2080=) n.656C= c.2616C= (p.Ser872=) | |
| 1 | g.94001900G>T | CA418812017 | ABCA4 | c.6240C>A (p.Ser2080=) n.656C>A c.2616C>A (p.Ser872=) | |
| 1 | g.94001900_94001902delinsGGA | CA1181398564 | ABCA4 | c.6238_6240delinsTCC (p.Ser2080=) n.654_656delinsTCC c.2614_2616delinsTCC (p.Ser872=) | |
| 1 | g.94001901G>A | CA341278214 | ABCA4 | c.6239C>T (p.Ser2080Phe) n.655C>T c.2615C>T (p.Ser872Phe) | dbSNP COSMIC COSMIC |
| 1 | g.94001901G>C | CA341278215 | ABCA4 | c.6239C>G (p.Ser2080Cys) n.655C>G c.2615C>G (p.Ser872Cys) | dbSNP |
| 1 | g.94001901G= | CA1181398571 | ABCA4 | c.6239C= (p.Ser2080=) n.655C= c.2615C= (p.Ser872=) | |
| 1 | g.94001901G>T | CA341278216 | ABCA4 | c.6239C>A (p.Ser2080Tyr) n.655C>A c.2615C>A (p.Ser872Tyr) | |
| 1 | g.94001901_94001905delinsGAGAG | CA1143538154 | ABCA4 | c.6235_6239delinsCTCTC (p.Leu2079=) n.651_655delinsCTCTC c.2611_2615delinsCTCTC (p.Leu871=) | |
| 1 | g.94001904_94001905del | CA227381 | ABCA4 | c.6238_6239del (p.Ser2080HisfsTer16) n.654_655del c.2614_2615del (p.Ser872HisfsTer16) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001902A= | CA1181398575 | ABCA4 | c.6238T= (p.Ser2080=) n.654T= c.2614T= (p.Ser872=) | |
| 1 | g.94001902A>C | CA341278217 | ABCA4 | c.6238T>G (p.Ser2080Ala) n.654T>G c.2614T>G (p.Ser872Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001902A>G | CA341278218 | ABCA4 | c.6238T>C (p.Ser2080Pro) n.654T>C c.2614T>C (p.Ser872Pro) | |
| 1 | g.94001902A>T | CA341278219 | ABCA4 | c.6238T>A (p.Ser2080Thr) n.654T>A c.2614T>A (p.Ser872Thr) | |
| 1 | g.94001903G>A | CA418812030 | ABCA4 | c.6237C>T (p.Leu2079=) n.653C>T c.2613C>T (p.Leu871=) | gnomAD v4 |
| 1 | g.94001903G>C | CA418812032 | ABCA4 | c.6237C>G (p.Leu2079=) n.653C>G c.2613C>G (p.Leu871=) | |
| 1 | g.94001903G>T | CA418812040 | ABCA4 | c.6237C>A (p.Leu2079=) n.653C>A c.2613C>A (p.Leu871=) | |
| 1 | g.94001904A>C | CA341278220 | ABCA4 | c.6236T>G (p.Leu2079Arg) n.652T>G c.2612T>G (p.Leu871Arg) | |
| 1 | g.94001904A>G | CA341278221 | ABCA4 | c.6236T>C (p.Leu2079Pro) n.652T>C c.2612T>C (p.Leu871Pro) | |
| 1 | g.94001904A>T | CA341278222 | ABCA4 | c.6236T>A (p.Leu2079His) n.652T>A c.2612T>A (p.Leu871His) | ClinVar dbSNP |
| 1 | g.94001905G>A | CA956984 | ABCA4 | c.6235C>T (p.Leu2079Phe) n.651C>T c.2611C>T (p.Leu871Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001905G>C | CA341278223 | ABCA4 | c.6235C>G (p.Leu2079Val) n.651C>G c.2611C>G (p.Leu871Val) | dbSNP |
| 1 | g.94001905G= | CA1181398577 | ABCA4 | c.6235C= (p.Leu2079=) n.651C= c.2611C= (p.Leu871=) | |
| 1 | g.94001905G>T | CA341278224 | ABCA4 | c.6235C>A (p.Leu2079Ile) n.651C>A c.2611C>A (p.Leu871Ile) | |
| 1 | g.94001906T>A | CA341278226 | ABCA4 | c.6234A>T (p.Lys2078Asn) n.650A>T c.2610A>T (p.Lys870Asn) | |
| 1 | g.94001906T>C | CA418812064 | ABCA4 | c.6234A>G (p.Lys2078=) n.650A>G c.2610A>G (p.Lys870=) | |
| 1 | g.94001906T>G | CA341278225 | ABCA4 | c.6234A>C (p.Lys2078Asn) n.650A>C c.2610A>C (p.Lys870Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001906T= | CA1181398579 | ABCA4 | c.6234A= (p.Lys2078=) n.650A= c.2610A= (p.Lys870=) | |
| 1 | g.94001907T>A | CA341278227 | ABCA4 | c.6233A>T (p.Lys2078Ile) n.649A>T c.2609A>T (p.Lys870Ile) | |
| 1 | g.94001907T>C | CA341278229 | ABCA4 | c.6233A>G (p.Lys2078Arg) n.649A>G c.2609A>G (p.Lys870Arg) | |
| 1 | g.94001907T>G | CA341278228 | ABCA4 | c.6233A>C (p.Lys2078Thr) n.649A>C c.2609A>C (p.Lys870Thr) | |
| 1 | g.94001908T>A | CA341278230 | ABCA4 | c.6232A>T (p.Lys2078Ter) n.648A>T c.2608A>T (p.Lys870Ter) | |
| 1 | g.94001908T>C | CA341278231 | ABCA4 | c.6232A>G (p.Lys2078Glu) n.648A>G c.2608A>G (p.Lys870Glu) | gnomAD v4 |
| 1 | g.94001908T>G | CA26832584 | ABCA4 | c.6232A>C (p.Lys2078Gln) n.648A>C c.2608A>C (p.Lys870Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001908T= | CA1181398583 | ABCA4 | c.6232A= (p.Lys2078=) n.648A= c.2608A= (p.Lys870=) | |
| 1 | g.94001909C>A | CA418812082 | ABCA4 | c.6231G>T (p.Arg2077=) n.647G>T c.2607G>T (p.Arg869=) | |
| 1 | g.94001909C>G | CA418812085 | ABCA4 | c.6231G>C (p.Arg2077=) n.647G>C c.2607G>C (p.Arg869=) | |
| 1 | g.94001909C>T | CA418812083 | ABCA4 | c.6231G>A (p.Arg2077=) n.647G>A c.2607G>A (p.Arg869=) | |
| 1 | g.94001910C>A | CA341278232 | ABCA4 | c.6230G>T (p.Arg2077Leu) n.646G>T c.2606G>T (p.Arg869Leu) | ClinVar |
| 1 | g.94001910C= | CA1181398586 | ABCA4 | c.6230G= (p.Arg2077=) n.646G= c.2606G= (p.Arg869=) | |
| 1 | g.94001910C>G | CA341278233 | ABCA4 | c.6230G>C (p.Arg2077Pro) n.646G>C c.2606G>C (p.Arg869Pro) | |
| 1 | g.94001910C>T | CA10602409 | ABCA4 | c.6230G>A (p.Arg2077Gln) n.646G>A c.2606G>A (p.Arg869Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001911G>A | CA227380 | ABCA4 | c.6229C>T (p.Arg2077Trp) n.645C>T c.2605C>T (p.Arg869Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001911G>C | CA227379 | ABCA4 | c.6229C>G (p.Arg2077Gly) n.645C>G c.2605C>G (p.Arg869Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001911G= | CA1140725999 | ABCA4 | c.6229C= (p.Arg2077=) n.645C= c.2605C= (p.Arg869=) | |
| 1 | g.94001911G>T | CA418812094 | ABCA4 | c.6229C>A (p.Arg2077=) n.645C>A c.2605C>A (p.Arg869=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001912del | CA2586966862 | ABCA4 | c.6228del (p.Lys2076AsnfsTer?) n.644del c.2604del (p.Lys868AsnfsTer?) | |
| 1 | g.94001912C>A | CA341278234 | ABCA4 | c.6228G>T (p.Lys2076Asn) n.644G>T c.2604G>T (p.Lys868Asn) | |
| 1 | g.94001912C= | CA1146514378 | ABCA4 | c.6228G= (p.Lys2076=) n.644G= c.2604G= (p.Lys868=) | |
| 1 | g.94001912C>G | CA341278235 | ABCA4 | c.6228G>C (p.Lys2076Asn) n.644G>C c.2604G>C (p.Lys868Asn) | |
| 1 | g.94001912C>T | CA26832600 | ABCA4 | c.6228G>A (p.Lys2076=) n.644G>A c.2604G>A (p.Lys868=) | dbSNP gnomAD v4 |
| 1 | g.94001913T>A | CA341278236 | ABCA4 | c.6227A>T (p.Lys2076Met) n.643A>T c.2603A>T (p.Lys868Met) | |
| 1 | g.94001913T>C | CA341278237 | ABCA4 | c.6227A>G (p.Lys2076Arg) n.643A>G c.2603A>G (p.Lys868Arg) | |
| 1 | g.94001913T>G | CA341278238 | ABCA4 | c.6227A>C (p.Lys2076Thr) n.643A>C c.2603A>C (p.Lys868Thr) | dbSNP gnomAD v4 |
| 1 | g.94001913T= | CA1181398597 | ABCA4 | c.6227A= (p.Lys2076=) n.643A= c.2603A= (p.Lys868=) | |
| 1 | g.94001914T>A | CA341278239 | ABCA4 | c.6226A>T (p.Lys2076Ter) n.642A>T c.2602A>T (p.Lys868Ter) | |
| 1 | g.94001914T>C | CA341278240 | ABCA4 | c.6226A>G (p.Lys2076Glu) n.642A>G c.2602A>G (p.Lys868Glu) | ClinVar dbSNP |
| 1 | g.94001914T>G | CA341278241 | ABCA4 | c.6226A>C (p.Lys2076Gln) n.642A>C c.2602A>C (p.Lys868Gln) | |
| 1 | g.94001914T= | CA1181398599 | ABCA4 | c.6226A= (p.Lys2076=) n.642A= c.2602A= (p.Lys868=) | |
| 1 | g.94001915G>A | CA418812114 | ABCA4 | c.6225C>T (p.Asn2075=) n.641C>T c.2601C>T (p.Asn867=) | |
| 1 | g.94001915G>C | CA341278242 | ABCA4 | c.6225C>G (p.Asn2075Lys) n.641C>G c.2601C>G (p.Asn867Lys) | gnomAD v4 |
| 1 | g.94001915G>T | CA341278243 | ABCA4 | c.6225C>A (p.Asn2075Lys) n.641C>A c.2601C>A (p.Asn867Lys) | |
| 1 | g.94001916T>A | CA341278244 | ABCA4 | c.6224A>T (p.Asn2075Ile) n.640A>T c.2600A>T (p.Asn867Ile) | gnomAD v4 |
| 1 | g.94001916T>C | CA341278246 | ABCA4 | c.6224A>G (p.Asn2075Ser) n.640A>G c.2600A>G (p.Asn867Ser) | |
| 1 | g.94001916T>G | CA341278245 | ABCA4 | c.6224A>C (p.Asn2075Thr) n.640A>C c.2600A>C (p.Asn867Thr) | |
| 1 | g.94001917T>A | CA341278247 | ABCA4 | c.6223A>T (p.Asn2075Tyr) n.639A>T c.2599A>T (p.Asn867Tyr) | |
| 1 | g.94001917T>C | CA341278248 | ABCA4 | c.6223A>G (p.Asn2075Asp) n.639A>G c.2599A>G (p.Asn867Asp) | |
| 1 | g.94001917T>G | CA341278249 | ABCA4 | c.6223A>C (p.Asn2075His) n.639A>C c.2599A>C (p.Asn867His) | |
| 1 | g.94001918G>A | CA418812127 | ABCA4 | c.6222C>T (p.Gly2074=) n.638C>T c.2598C>T (p.Gly866=) | |
| 1 | g.94001918G>C | CA418812128 | ABCA4 | c.6222C>G (p.Gly2074=) n.638C>G c.2598C>G (p.Gly866=) | |
| 1 | g.94001918G>T | CA418812129 | ABCA4 | c.6222C>A (p.Gly2074=) n.638C>A c.2598C>A (p.Gly866=) | gnomAD v4 |
| 1 | g.94001918_94001919delinsGC | CA1181398601 | ABCA4 | c.6221_6222delinsGC (p.Gly2074=) n.637_638delinsGC c.2597_2598delinsGC (p.Gly866=) | |
| 1 | g.94001919C>A | CA956985 | ABCA4 | c.6221G>T (p.Gly2074Val) n.637G>T c.2597G>T (p.Gly866Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001919C= | CA1143557841 | ABCA4 | c.6221G= (p.Gly2074=) n.637G= c.2597G= (p.Gly866=) | |
| 1 | g.94001919C>G | CA341278250 | ABCA4 | c.6221G>C (p.Gly2074Ala) n.637G>C c.2597G>C (p.Gly866Ala) | |
| 1 | g.94001919C>T | CA956986 | ABCA4 | c.6221G>A (p.Gly2074Asp) n.637G>A c.2597G>A (p.Gly866Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001923dup | CA2586966864 | ABCA4 | c.6221dup (p.Asn2075GlnfsTer22) n.637dup c.2597dup (p.Asn867GlnfsTer22) | |
| 1 | g.94001923del | CA915941321 | ABCA4 | c.6221del (p.Gly2074AlafsTer?) n.637del c.2597del (p.Gly866AlafsTer?) | ClinVar dbSNP |
| 1 | g.94001920C>A | CA341278251 | ABCA4 | c.6220G>T (p.Gly2074Cys) n.636G>T c.2596G>T (p.Gly866Cys) | |
| 1 | g.94001920C= | CA1181398608 | ABCA4 | c.6220G= (p.Gly2074=) n.636G= c.2596G= (p.Gly866=) | |
| 1 | g.94001920C>G | CA341278252 | ABCA4 | c.6220G>C (p.Gly2074Arg) n.636G>C c.2596G>C (p.Gly866Arg) | |
| 1 | g.94001920C>T | CA341278253 | ABCA4 | c.6220G>A (p.Gly2074Ser) n.636G>A c.2596G>A (p.Gly866Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001921C>A | CA418812136 | ABCA4 | c.6219G>T (p.Gly2073=) n.635G>T c.2595G>T (p.Gly865=) | |
| 1 | g.94001921C>G | CA418812138 | ABCA4 | c.6219G>C (p.Gly2073=) n.635G>C c.2595G>C (p.Gly865=) | |
| 1 | g.94001921C>T | CA418812140 | ABCA4 | c.6219G>A (p.Gly2073=) n.635G>A c.2595G>A (p.Gly865=) | |
| 1 | g.94001922C>A | CA341278255 | ABCA4 | c.6218G>T (p.Gly2073Val) n.634G>T c.2594G>T (p.Gly865Val) | |
| 1 | g.94001922C= | CA1181398610 | ABCA4 | c.6218G= (p.Gly2073=) n.634G= c.2594G= (p.Gly865=) | |
| 1 | g.94001922C>G | CA956987 | ABCA4 | c.6218G>C (p.Gly2073Ala) n.634G>C c.2594G>C (p.Gly865Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001922C>T | CA341278254 | ABCA4 | c.6218G>A (p.Gly2073Glu) n.634G>A c.2594G>A (p.Gly865Glu) | gnomAD v4 |
| 1 | g.94001923C>A | CA341278256 | ABCA4 | c.6217G>T (p.Gly2073Trp) n.633G>T c.2593G>T (p.Gly865Trp) | |
| 1 | g.94001923C>G | CA341278257 | ABCA4 | c.6217G>C (p.Gly2073Arg) n.633G>C c.2593G>C (p.Gly865Arg) | |
| 1 | g.94001923C>T | CA341278258 | ABCA4 | c.6217G>A (p.Gly2073Arg) n.633G>A c.2593G>A (p.Gly865Arg) | COSMIC |
| 1 | g.94001924A= | CA1181398613 | ABCA4 | c.6216T= (p.Ser2072=) n.632T= c.2592T= (p.Ser864=) | |
| 1 | g.94001924A>C | CA341278259 | ABCA4 | c.6216T>G (p.Ser2072Arg) n.632T>G c.2592T>G (p.Ser864Arg) | ClinVar dbSNP |
| 1 | g.94001924A>G | CA956988 | ABCA4 | c.6216T>C (p.Ser2072=) n.632T>C c.2592T>C (p.Ser864=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001924A>T | CA341278260 | ABCA4 | c.6216T>A (p.Ser2072Arg) n.632T>A c.2592T>A (p.Ser864Arg) | |
| 1 | g.94001925C>A | CA341278261 | ABCA4 | c.6215G>T (p.Ser2072Ile) n.631G>T c.2591G>T (p.Ser864Ile) | |
| 1 | g.94001925C= | CA1181398617 | ABCA4 | c.6215G= (p.Ser2072=) n.631G= c.2591G= (p.Ser864=) | |
| 1 | g.94001925C>G | CA341278262 | ABCA4 | c.6215G>C (p.Ser2072Thr) n.631G>C c.2591G>C (p.Ser864Thr) | |
| 1 | g.94001925C>T | CA341278263 | ABCA4 | c.6215G>A (p.Ser2072Asn) n.631G>A c.2591G>A (p.Ser864Asn) | ClinVar dbSNP |
| 1 | g.94001926T>A | CA341278264 | ABCA4 | c.6214A>T (p.Ser2072Cys) n.630A>T c.2590A>T (p.Ser864Cys) | |
| 1 | g.94001926T>C | CA341278265 | ABCA4 | c.6214A>G (p.Ser2072Gly) n.630A>G c.2590A>G (p.Ser864Gly) | ClinVar gnomAD v4 |
| 1 | g.94001926T>G | CA341278266 | ABCA4 | c.6214A>C (p.Ser2072Arg) n.630A>C c.2590A>C (p.Ser864Arg) | |
| 1 | g.94001927G>A | CA227377 | ABCA4 | c.6213C>T (p.Tyr2071=) n.629C>T c.2589C>T (p.Tyr863=) | ClinVar dbSNP |
| 1 | g.94001927G>C | CA341278268 | ABCA4 | c.6213C>G (p.Tyr2071Ter) n.629C>G c.2589C>G (p.Tyr863Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001927G= | CA1140762681 | ABCA4 | c.6213C= (p.Tyr2071=) n.629C= c.2589C= (p.Tyr863=) | |
| 1 | g.94001927G>T | CA341278267 | ABCA4 | c.6213C>A (p.Tyr2071Ter) n.629C>A c.2589C>A (p.Tyr863Ter) | |
| 1 | g.94001928T>A | CA341278269 | ABCA4 | c.6212A>T (p.Tyr2071Phe) n.628A>T c.2588A>T (p.Tyr863Phe) | dbSNP |
| 1 | g.94001928T>C | CA341278270 | ABCA4 | c.6212A>G (p.Tyr2071Cys) n.628A>G c.2588A>G (p.Tyr863Cys) | |
| 1 | g.94001928T>G | CA341278271 | ABCA4 | c.6212A>C (p.Tyr2071Ser) n.628A>C c.2588A>C (p.Tyr863Ser) | |
| 1 | g.94001928T= | CA1181398625 | ABCA4 | c.6212A= (p.Tyr2071=) n.628A= c.2588A= (p.Tyr863=) | |
| 1 | g.94001929A= | CA1181398628 | ABCA4 | c.6211T= (p.Tyr2071=) n.627T= c.2587T= (p.Tyr863=) | |
| 1 | g.94001929A>C | CA341278272 | ABCA4 | c.6211T>G (p.Tyr2071Asp) n.627T>G c.2587T>G (p.Tyr863Asp) | ClinVar dbSNP |
| 1 | g.94001929A>G | CA341278273 | ABCA4 | c.6211T>C (p.Tyr2071His) n.627T>C c.2587T>C (p.Tyr863His) | |
| 1 | g.94001929A>T | CA341278274 | ABCA4 | c.6211T>A (p.Tyr2071Asn) n.627T>A c.2587T>A (p.Tyr863Asn) | ClinVar dbSNP |
| 1 | g.94001930C>A | CA418812172 | ABCA4 | c.6210G>T (p.Thr2070=) n.626G>T c.2586G>T (p.Thr862=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94001930C= | CA1181398631 | ABCA4 | c.6210G= (p.Thr2070=) n.626G= c.2586G= (p.Thr862=) | |
| 1 | g.94001930C>G | CA418812174 | ABCA4 | c.6210G>C (p.Thr2070=) n.626G>C c.2586G>C (p.Thr862=) | |
| 1 | g.94001930C>T | CA418812170 | ABCA4 | c.6210G>A (p.Thr2070=) n.626G>A c.2586G>A (p.Thr862=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001931G>A | CA956989 | ABCA4 | c.6209C>T (p.Thr2070Met) n.625C>T c.2585C>T (p.Thr862Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001931G>C | CA341278275 | ABCA4 | c.6209C>G (p.Thr2070Arg) n.625C>G c.2585C>G (p.Thr862Arg) | gnomAD v4 |
| 1 | g.94001931G= | CA1181398638 | ABCA4 | c.6209C= (p.Thr2070=) n.625C= c.2585C= (p.Thr862=) | |
| 1 | g.94001931G>T | CA341278276 | ABCA4 | c.6209C>A (p.Thr2070Lys) n.625C>A c.2585C>A (p.Thr862Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001931_94001932delinsGT | CA1181398636 | ABCA4 | c.6208_6209delinsAC (p.Thr2070=) n.624_625delinsAC c.2584_2585delinsAC (p.Thr862=) | |
| 1 | g.94001931_94001932delinsTG | CA916082046 | ABCA4 | c.6208_6209delinsCA (p.Thr2070Gln) n.624_625delinsCA c.2584_2585delinsCA (p.Thr862Gln) | ClinVar dbSNP |
| 1 | g.94001931_94001936delinsT | CA2586966865 | ABCA4 | c.6204_6209delinsA (p.Gly2069ValfsTer26) n.620_625delinsA c.2580_2585delinsA (p.Gly861ValfsTer26) | |
| 1 | g.94001932T>A | CA341278277 | ABCA4 | c.6208A>T (p.Thr2070Ser) n.624A>T c.2584A>T (p.Thr862Ser) | |
| 1 | g.94001932T>C | CA26832622 | ABCA4 | c.6208A>G (p.Thr2070Ala) n.624A>G c.2584A>G (p.Thr862Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001932T>G | CA341278278 | ABCA4 | c.6208A>C (p.Thr2070Pro) n.624A>C c.2584A>C (p.Thr862Pro) | gnomAD v4 |
| 1 | g.94001932T= | CA1142412922 | ABCA4 | c.6208A= (p.Thr2070=) n.624A= c.2584A= (p.Thr862=) | |
| 1 | g.94001933G>A | CA418812188 | ABCA4 | c.6207C>T (p.Gly2069=) n.623C>T c.2583C>T (p.Gly861=) | gnomAD v4 |
| 1 | g.94001933G>C | CA418812190 | ABCA4 | c.6207C>G (p.Gly2069=) n.623C>G c.2583C>G (p.Gly861=) | |
| 1 | g.94001933G>T | CA418812192 | ABCA4 | c.6207C>A (p.Gly2069=) n.623C>A c.2583C>A (p.Gly861=) | |
| 1 | g.94001934C>A | CA341278281 | ABCA4 | c.6206G>T (p.Gly2069Val) n.622G>T c.2582G>T (p.Gly861Val) | gnomAD v4 |
| 1 | g.94001934C>G | CA341278280 | ABCA4 | c.6206G>C (p.Gly2069Ala) n.622G>C c.2582G>C (p.Gly861Ala) | |
| 1 | g.94001934C>T | CA341278279 | ABCA4 | c.6206G>A (p.Gly2069Asp) n.622G>A c.2582G>A (p.Gly861Asp) | ClinVar dbSNP |
| 1 | g.94001935C>A | CA341278282 | ABCA4 | c.6205G>T (p.Gly2069Cys) n.621G>T c.2581G>T (p.Gly861Cys) | |
| 1 | g.94001935C>G | CA341278283 | ABCA4 | c.6205G>C (p.Gly2069Arg) n.621G>C c.2581G>C (p.Gly861Arg) | |
| 1 | g.94001935C>T | CA341278284 | ABCA4 | c.6205G>A (p.Gly2069Ser) n.621G>A c.2581G>A (p.Gly861Ser) | |
| 1 | g.94001936A>C | CA418812203 | ABCA4 | c.6204T>G (p.Ala2068=) n.620T>G c.2580T>G (p.Ala860=) | |
| 1 | g.94001936A>G | CA418812199 | ABCA4 | c.6204T>C (p.Ala2068=) n.620T>C c.2580T>C (p.Ala860=) | |
| 1 | g.94001936A>T | CA418812201 | ABCA4 | c.6204T>A (p.Ala2068=) n.620T>A c.2580T>A (p.Ala860=) | |
| 1 | g.94001937G>A | CA341278285 | ABCA4 | c.6203C>T (p.Ala2068Val) n.619C>T c.2579C>T (p.Ala860Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001937G>C | CA341278286 | ABCA4 | c.6203C>G (p.Ala2068Gly) n.619C>G c.2579C>G (p.Ala860Gly) | dbSNP |
| 1 | g.94001937G= | CA1181398643 | ABCA4 | c.6203C= (p.Ala2068=) n.619C= c.2579C= (p.Ala860=) | |
| 1 | g.94001937G>T | CA341278287 | ABCA4 | c.6203C>A (p.Ala2068Asp) n.619C>A c.2579C>A (p.Ala860Asp) | |
| 1 | g.94001938C>A | CA341278288 | ABCA4 | c.6202G>T (p.Ala2068Ser) n.618G>T c.2578G>T (p.Ala860Ser) | |
| 1 | g.94001938C>G | CA341278289 | ABCA4 | c.6202G>C (p.Ala2068Pro) n.618G>C c.2578G>C (p.Ala860Pro) | |
| 1 | g.94001938C>T | CA341278290 | ABCA4 | c.6202G>A (p.Ala2068Thr) n.618G>A c.2578G>A (p.Ala860Thr) | |
| 1 | g.94001939C>A | CA418812223 | ABCA4 | c.6201G>T (p.Leu2067=) n.617G>T c.2577G>T (p.Leu859=) | |
| 1 | g.94001939C>G | CA418812225 | ABCA4 | c.6201G>C (p.Leu2067=) n.617G>C c.2577G>C (p.Leu859=) | |
| 1 | g.94001939C>T | CA418812226 | ABCA4 | c.6201G>A (p.Leu2067=) n.617G>A c.2577G>A (p.Leu859=) | |
| 1 | g.94001940A>C | CA341278291 | ABCA4 | c.6200T>G (p.Leu2067Arg) n.616T>G c.2576T>G (p.Leu859Arg) | |
| 1 | g.94001940A>G | CA341278292 | ABCA4 | c.6200T>C (p.Leu2067Pro) n.616T>C c.2576T>C (p.Leu859Pro) | |
| 1 | g.94001940A>T | CA341278293 | ABCA4 | c.6200T>A (p.Leu2067Gln) n.616T>A c.2576T>A (p.Leu859Gln) | |
| 1 | g.94001941G>A | CA418812234 | ABCA4 | c.6199C>T (p.Leu2067=) n.615C>T c.2575C>T (p.Leu859=) | ClinVar |
| 1 | g.94001941G>C | CA341278294 | ABCA4 | c.6199C>G (p.Leu2067Val) n.615C>G c.2575C>G (p.Leu859Val) | |
| 1 | g.94001941G>T | CA341278295 | ABCA4 | c.6199C>A (p.Leu2067Met) n.615C>A c.2575C>A (p.Leu859Met) | |
| 1 | g.94001942G>A | CA418812237 | ABCA4 | c.6198C>T (p.Cys2066=) n.614C>T c.2574C>T (p.Cys858=) | dbSNP |
| 1 | g.94001942G>C | CA341278297 | ABCA4 | c.6198C>G (p.Cys2066Trp) n.614C>G c.2574C>G (p.Cys858Trp) | dbSNP |
| 1 | g.94001942G= | CA1181398648 | ABCA4 | c.6198C= (p.Cys2066=) n.614C= c.2574C= (p.Cys858=) | |
| 1 | g.94001942G>T | CA341278296 | ABCA4 | c.6198C>A (p.Cys2066Ter) n.614C>A c.2574C>A (p.Cys858Ter) | ClinVar gnomAD v4 |
| 1 | g.94001943C>A | CA341278298 | ABCA4 | c.6197G>T (p.Cys2066Phe) n.613G>T c.2573G>T (p.Cys858Phe) | |
| 1 | g.94001943C= | CA1142150725 | ABCA4 | c.6197G= (p.Cys2066=) n.613G= c.2573G= (p.Cys858=) | |
| 1 | g.94001943C>G | CA341278299 | ABCA4 | c.6197G>C (p.Cys2066Ser) n.613G>C c.2573G>C (p.Cys858Ser) | |
| 1 | g.94001943C>T | CA956990 | ABCA4 | c.6197G>A (p.Cys2066Tyr) n.613G>A c.2573G>A (p.Cys858Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001944del | CA645372221 | ABCA4 | c.6196del (p.Cys2066AlafsTer?) n.612del c.2572del (p.Cys858AlafsTer?) | |
| 1 | g.94001944A>C | CA341278300 | ABCA4 | c.6196T>G (p.Cys2066Gly) n.612T>G c.2572T>G (p.Cys858Gly) | |
| 1 | g.94001944A>G | CA341278301 | ABCA4 | c.6196T>C (p.Cys2066Arg) n.612T>C c.2572T>C (p.Cys858Arg) | |
| 1 | g.94001944A>T | CA341278302 | ABCA4 | c.6196T>A (p.Cys2066Ser) n.612T>A c.2572T>A (p.Cys858Ser) | |
| 1 | g.94001944_94001948delinsGACC | CA2573050649 | ABCA4 | c.6192_6196delinsGGTC (p.Asp2065ValfsTer?) n.608_612delinsGGTC c.2568_2572delinsGGTC (p.Asp857ValfsTer?) | |
| 1 | g.94001945G>A | CA418812256 | ABCA4 | c.6195C>T (p.Asp2065=) n.611C>T c.2571C>T (p.Asp857=) | |
| 1 | g.94001945G>C | CA956991 | ABCA4 | c.6195C>G (p.Asp2065Glu) n.611C>G c.2571C>G (p.Asp857Glu) | dbSNP ExAC gnomAD v2 |
| 1 | g.94001945G= | CA1181398651 | ABCA4 | c.6195C= (p.Asp2065=) n.611C= c.2571C= (p.Asp857=) | |
| 1 | g.94001945G>T | CA341278303 | ABCA4 | c.6195C>A (p.Asp2065Glu) n.611C>A c.2571C>A (p.Asp857Glu) | |
| 1 | g.94001946T>A | CA341278304 | ABCA4 | c.6194A>T (p.Asp2065Val) n.610A>T c.2570A>T (p.Asp857Val) | |
| 1 | g.94001946T>C | CA341278305 | ABCA4 | c.6194A>G (p.Asp2065Gly) n.610A>G c.2570A>G (p.Asp857Gly) | gnomAD v4 |
| 1 | g.94001946T>G | CA341278306 | ABCA4 | c.6194A>C (p.Asp2065Ala) n.610A>C c.2570A>C (p.Asp857Ala) | |
| 1 | g.94001947C>A | CA341278307 | ABCA4 | c.6193G>T (p.Asp2065Tyr) n.609G>T c.2569G>T (p.Asp857Tyr) | |
| 1 | g.94001947C= | CA1181398655 | ABCA4 | c.6193G= (p.Asp2065=) n.609G= c.2569G= (p.Asp857=) | |
| 1 | g.94001947C>G | CA10605692 | ABCA4 | c.6193G>C (p.Asp2065His) n.609G>C c.2569G>C (p.Asp857His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001947C>T | CA341278308 | ABCA4 | c.6193G>A (p.Asp2065Asn) n.609G>A c.2569G>A (p.Asp857Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001948G>A | CA418812276 | ABCA4 | c.6192C>T (p.Ala2064=) n.608C>T c.2568C>T (p.Ala856=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001948G>C | CA418812279 | ABCA4 | c.6192C>G (p.Ala2064=) n.608C>G c.2568C>G (p.Ala856=) | |
| 1 | g.94001948G= | CA1181398659 | ABCA4 | c.6192C= (p.Ala2064=) n.608C= c.2568C= (p.Ala856=) | |
| 1 | g.94001948G>T | CA418812282 | ABCA4 | c.6192C>A (p.Ala2064=) n.608C>A c.2568C>A (p.Ala856=) | |
| 1 | g.94001949G>A | CA341278309 | ABCA4 | c.6191C>T (p.Ala2064Val) n.607C>T c.2567C>T (p.Ala856Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001949G>C | CA341278311 | ABCA4 | c.6191C>G (p.Ala2064Gly) n.607C>G c.2567C>G (p.Ala856Gly) | ClinVar |
| 1 | g.94001949G= | CA1181398662 | ABCA4 | c.6191C= (p.Ala2064=) n.607C= c.2567C= (p.Ala856=) | |
| 1 | g.94001949G>T | CA341278310 | ABCA4 | c.6191C>A (p.Ala2064Asp) n.607C>A c.2567C>A (p.Ala856Asp) | gnomAD v4 |
| 1 | g.94001950C>A | CA341278312 | ABCA4 | c.6190G>T (p.Ala2064Ser) n.606G>T c.2566G>T (p.Ala856Ser) | |
| 1 | g.94001950C= | CA1140726003 | ABCA4 | c.6190G= (p.Ala2064=) n.606G= c.2566G= (p.Ala856=) | |
| 1 | g.94001950C>G | CA227375 | ABCA4 | c.6190G>C (p.Ala2064Pro) n.606G>C c.2566G>C (p.Ala856Pro) | ClinVar dbSNP |
| 1 | g.94001950C>T | CA956992 | ABCA4 | c.6190G>A (p.Ala2064Thr) n.606G>A c.2566G>A (p.Ala856Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001951G>A | CA956993 | ABCA4 | c.6189C>T (p.Tyr2063=) n.605C>T c.2565C>T (p.Tyr855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001951G>C | CA341278313 | ABCA4 | c.6189C>G (p.Tyr2063Ter) n.605C>G c.2565C>G (p.Tyr855Ter) | |
| 1 | g.94001951G= | CA1144761956 | ABCA4 | c.6189C= (p.Tyr2063=) n.605C= c.2565C= (p.Tyr855=) | |
| 1 | g.94001951G>T | CA341278314 | ABCA4 | c.6189C>A (p.Tyr2063Ter) n.605C>A c.2565C>A (p.Tyr855Ter) | |
| 1 | g.94001952T>A | CA341278315 | ABCA4 | c.6188A>T (p.Tyr2063Phe) n.604A>T c.2564A>T (p.Tyr855Phe) | |
| 1 | g.94001952T>C | CA26832669 | ABCA4 | c.6188A>G (p.Tyr2063Cys) n.604A>G c.2564A>G (p.Tyr855Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001952T>G | CA341278316 | ABCA4 | c.6188A>C (p.Tyr2063Ser) n.604A>C c.2564A>C (p.Tyr855Ser) | |
| 1 | g.94001952T= | CA1181398673 | ABCA4 | c.6188A= (p.Tyr2063=) n.604A= c.2564A= (p.Tyr855=) | |
| 1 | g.94001952_94001956del | CA2586966866 | ABCA4 | c.6184_6188del (p.Val2062ArgfsTer?) n.600_604del c.2560_2564del (p.Val854ArgfsTer?) | |
| 1 | g.94001952_94001956delinsTAGAC | CA1181398674 | ABCA4 | c.6184_6188delinsGTCTA (p.Val2062=) n.600_604delinsGTCTA c.2560_2564delinsGTCTA (p.Val854=) | |
| 1 | g.94001953A= | CA1181398681 | ABCA4 | c.6187T= (p.Tyr2063=) n.603T= c.2563T= (p.Tyr855=) | |
| 1 | g.94001953A>C | CA341278317 | ABCA4 | c.6187T>G (p.Tyr2063Asp) n.603T>G c.2563T>G (p.Tyr855Asp) | |
| 1 | g.94001953A>G | CA341278318 | ABCA4 | c.6187T>C (p.Tyr2063His) n.603T>C c.2563T>C (p.Tyr855His) | dbSNP |
| 1 | g.94001953A>T | CA341278319 | ABCA4 | c.6187T>A (p.Tyr2063Asn) n.603T>A c.2563T>A (p.Tyr855Asn) | |
| 1 | g.94001955_94001958del | CA10604078 | ABCA4 | c.6184_6187del (p.Val2062ThrfsTer?) n.600_603del c.2560_2563del (p.Val854ThrfsTer?) | ClinVar dbSNP |
| 1 | g.94001954G>A | CA418812311 | ABCA4 | c.6186C>T (p.Val2062=) n.602C>T c.2562C>T (p.Val854=) | |
| 1 | g.94001954G>C | CA418812313 | ABCA4 | c.6186C>G (p.Val2062=) n.602C>G c.2562C>G (p.Val854=) | gnomAD v4 |
| 1 | g.94001954G>T | CA418812315 | ABCA4 | c.6186C>A (p.Val2062=) n.602C>A c.2562C>A (p.Val854=) | |
| 1 | g.94001955A= | CA1181398683 | ABCA4 | c.6185T= (p.Val2062=) n.601T= c.2561T= (p.Val854=) | |
| 1 | g.94001955A>C | CA341278320 | ABCA4 | c.6185T>G (p.Val2062Gly) n.601T>G c.2561T>G (p.Val854Gly) | |
| 1 | g.94001955A>G | CA26832677 | ABCA4 | c.6185T>C (p.Val2062Ala) n.601T>C c.2561T>C (p.Val854Ala) | dbSNP gnomAD v4 |
| 1 | g.94001955A>T | CA341278321 | ABCA4 | c.6185T>A (p.Val2062Asp) n.601T>A c.2561T>A (p.Val854Asp) | |
| 1 | g.94001955_94001959delinsACAGT | CA1181398684 | ABCA4 | c.6181_6185delinsACTGT (p.Thr2061=) n.597_601delinsACTGT c.2557_2561delinsACTGT (p.Thr853=) | |
| 1 | g.94001956C>A | CA341278322 | ABCA4 | c.6184G>T (p.Val2062Phe) n.600G>T c.2560G>T (p.Val854Phe) | |
| 1 | g.94001956C= | CA1181398687 | ABCA4 | c.6184G= (p.Val2062=) n.600G= c.2560G= (p.Val854=) | |
| 1 | g.94001956C>G | CA341278323 | ABCA4 | c.6184G>C (p.Val2062Leu) n.600G>C c.2560G>C (p.Val854Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001956C>T | CA341278324 | ABCA4 | c.6184G>A (p.Val2062Ile) n.600G>A c.2560G>A (p.Val854Ile) | |
| 1 | g.94001959_94001962del | CA1004544009 | ABCA4 | c.6181_6184del (p.Thr2061SerfsTer?) n.597_600del c.2557_2560del (p.Thr853SerfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001957A= | CA1181398689 | ABCA4 | c.6183T= (p.Thr2061=) n.599T= c.2559T= (p.Thr853=) | |
| 1 | g.94001957A>C | CA418812323 | ABCA4 | c.6183T>G (p.Thr2061=) n.599T>G c.2559T>G (p.Thr853=) | |
| 1 | g.94001957A>G | CA418812325 | ABCA4 | c.6183T>C (p.Thr2061=) n.599T>C c.2559T>C (p.Thr853=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001957A>T | CA418812327 | ABCA4 | c.6183T>A (p.Thr2061=) n.599T>A c.2559T>A (p.Thr853=) | |
| 1 | g.94001958G>A | CA341278325 | ABCA4 | c.6182C>T (p.Thr2061Ile) n.598C>T c.2558C>T (p.Thr853Ile) | |
| 1 | g.94001958G>C | CA956994 | ABCA4 | c.6182C>G (p.Thr2061Ser) n.598C>G c.2558C>G (p.Thr853Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001958G= | CA1181398693 | ABCA4 | c.6182C= (p.Thr2061=) n.598C= c.2558C= (p.Thr853=) | |
| 1 | g.94001958G>T | CA341278326 | ABCA4 | c.6182C>A (p.Thr2061Asn) n.598C>A c.2558C>A (p.Thr853Asn) | |
| 1 | g.94001959T>A | CA341278327 | ABCA4 | c.6181A>T (p.Thr2061Ser) n.597A>T c.2557A>T (p.Thr853Ser) | |
| 1 | g.94001959T>C | CA341278328 | ABCA4 | c.6181A>G (p.Thr2061Ala) n.597A>G c.2557A>G (p.Thr853Ala) | |
| 1 | g.94001959T>G | CA341278329 | ABCA4 | c.6181A>C (p.Thr2061Pro) n.597A>C c.2557A>C (p.Thr853Pro) | |
| 1 | g.94001960C>A | CA956995 | ABCA4 | c.6180G>T (p.Leu2060=) n.596G>T c.2556G>T (p.Leu852=) | dbSNP ExAC |
| 1 | g.94001960C= | CA1181398698 | ABCA4 | c.6180G= (p.Leu2060=) n.596G= c.2556G= (p.Leu852=) | |
| 1 | g.94001960C>G | CA418812336 | ABCA4 | c.6180G>C (p.Leu2060=) n.596G>C c.2556G>C (p.Leu852=) | |
| 1 | g.94001960C>T | CA418812339 | ABCA4 | c.6180G>A (p.Leu2060=) n.596G>A c.2556G>A (p.Leu852=) | |
| 1 | g.94001961A= | CA1140726008 | ABCA4 | c.6179T= (p.Leu2060=) n.595T= c.2555T= (p.Leu852=) | |
| 1 | g.94001961A>C | CA227373 | ABCA4 | c.6179T>G (p.Leu2060Arg) n.595T>G c.2555T>G (p.Leu852Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001961A>G | CA341278331 | ABCA4 | c.6179T>C (p.Leu2060Pro) n.595T>C c.2555T>C (p.Leu852Pro) | ClinVar |
| 1 | g.94001961A>T | CA341278330 | ABCA4 | c.6179T>A (p.Leu2060Gln) n.595T>A c.2555T>A (p.Leu852Gln) | |
| 1 | g.94001962G>A | CA418812344 | ABCA4 | c.6178C>T (p.Leu2060=) n.594C>T c.2554C>T (p.Leu852=) | |
| 1 | g.94001962G>C | CA341278332 | ABCA4 | c.6178C>G (p.Leu2060Val) n.594C>G c.2554C>G (p.Leu852Val) | ClinVar |
| 1 | g.94001962G>T | CA341278333 | ABCA4 | c.6178C>A (p.Leu2060Met) n.594C>A c.2554C>A (p.Leu852Met) | |
| 1 | g.94001963G>A | CA418812347 | ABCA4 | c.6177C>T (p.Gly2059=) n.593C>T c.2553C>T (p.Gly851=) | |
| 1 | g.94001963G>C | CA418812352 | ABCA4 | c.6177C>G (p.Gly2059=) n.593C>G c.2553C>G (p.Gly851=) | |
| 1 | g.94001963G= | CA1181398703 | ABCA4 | c.6177C= (p.Gly2059=) n.593C= c.2553C= (p.Gly851=) | |
| 1 | g.94001963G>T | CA418812349 | ABCA4 | c.6177C>A (p.Gly2059=) n.593C>A c.2553C>A (p.Gly851=) | dbSNP |
| 1 | g.94001964C>A | CA341278334 | ABCA4 | c.6176G>T (p.Gly2059Val) n.592G>T c.2552G>T (p.Gly851Val) | |
| 1 | g.94001964C= | CA1149050861 | ABCA4 | c.6176G= (p.Gly2059=) n.592G= c.2552G= (p.Gly851=) | |
| 1 | g.94001964C>G | CA341278335 | ABCA4 | c.6176G>C (p.Gly2059Ala) n.592G>C c.2552G>C (p.Gly851Ala) | |
| 1 | g.94001964C>T | CA956996 | ABCA4 | c.6176G>A (p.Gly2059Asp) n.592G>A c.2552G>A (p.Gly851Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001965C>A | CA341278336 | ABCA4 | c.6175G>T (p.Gly2059Cys) n.591G>T c.2551G>T (p.Gly851Cys) | COSMIC COSMIC |
| 1 | g.94001965C>G | CA341278337 | ABCA4 | c.6175G>C (p.Gly2059Arg) n.591G>C c.2551G>C (p.Gly851Arg) | |
| 1 | g.94001965C>T | CA341278338 | ABCA4 | c.6175G>A (p.Gly2059Ser) n.591G>A c.2551G>A (p.Gly851Ser) | |
| 1 | g.94001966C>A | CA418812361 | ABCA4 | c.6174G>T (p.Leu2058=) n.590G>T c.2550G>T (p.Leu850=) | |
| 1 | g.94001966C>G | CA418812362 | ABCA4 | c.6174G>C (p.Leu2058=) n.590G>C c.2550G>C (p.Leu850=) | |
| 1 | g.94001966C>T | CA418812363 | ABCA4 | c.6174G>A (p.Leu2058=) n.590G>A c.2550G>A (p.Leu850=) | ClinVar |
| 1 | g.94001967A>C | CA341278339 | ABCA4 | c.6173T>G (p.Leu2058Arg) n.589T>G c.2549T>G (p.Leu850Arg) | gnomAD v4 |
| 1 | g.94001967A>G | CA341278340 | ABCA4 | c.6173T>C (p.Leu2058Pro) n.589T>C c.2549T>C (p.Leu850Pro) | |
| 1 | g.94001967A>T | CA341278341 | ABCA4 | c.6173T>A (p.Leu2058Gln) n.589T>A c.2549T>A (p.Leu850Gln) | ClinVar |
| 1 | g.94001968G>A | CA418812374 | ABCA4 | c.6172C>T (p.Leu2058=) n.588C>T c.2548C>T (p.Leu850=) | |
| 1 | g.94001968G>C | CA341278342 | ABCA4 | c.6172C>G (p.Leu2058Val) n.588C>G c.2548C>G (p.Leu850Val) | |
| 1 | g.94001968G>T | CA341278343 | ABCA4 | c.6172C>A (p.Leu2058Met) n.588C>A c.2548C>A (p.Leu850Met) | |
| 1 | g.94001969G>A | CA418812376 | ABCA4 | c.6171C>T (p.Ser2057=) n.587C>T c.2547C>T (p.Ser849=) | |
| 1 | g.94001969G>C | CA341278344 | ABCA4 | c.6171C>G (p.Ser2057Arg) n.587C>G c.2547C>G (p.Ser849Arg) | gnomAD v4 |
| 1 | g.94001969G>T | CA341278345 | ABCA4 | c.6171C>A (p.Ser2057Arg) n.587C>A c.2547C>A (p.Ser849Arg) | |
| 1 | g.94001970C>A | CA341278346 | ABCA4 | c.6170G>T (p.Ser2057Ile) n.586G>T c.2546G>T (p.Ser849Ile) | |
| 1 | g.94001970C= | CA1181398705 | ABCA4 | c.6170G= (p.Ser2057=) n.586G= c.2546G= (p.Ser849=) | |
| 1 | g.94001970C>G | CA341278347 | ABCA4 | c.6170G>C (p.Ser2057Thr) n.586G>C c.2546G>C (p.Ser849Thr) | |
| 1 | g.94001970C>T | CA341278348 | ABCA4 | c.6170G>A (p.Ser2057Asn) n.586G>A c.2546G>A (p.Ser849Asn) | dbSNP |
| 1 | g.94001971T>A | CA341278349 | ABCA4 | c.6169A>T (p.Ser2057Cys) n.585A>T c.2545A>T (p.Ser849Cys) | |
| 1 | g.94001971T>C | CA341278351 | ABCA4 | c.6169A>G (p.Ser2057Gly) n.585A>G c.2545A>G (p.Ser849Gly) | |
| 1 | g.94001971T>G | CA341278350 | ABCA4 | c.6169A>C (p.Ser2057Arg) n.585A>C c.2545A>C (p.Ser849Arg) | |
| 1 | g.94001972C>A | CA341278352 | ABCA4 | c.6168G>T (p.Lys2056Asn) n.584G>T c.2544G>T (p.Lys848Asn) | |
| 1 | g.94001972C>G | CA341278353 | ABCA4 | c.6168G>C (p.Lys2056Asn) n.584G>C c.2544G>C (p.Lys848Asn) | |
| 1 | g.94001972C>T | CA418812387 | ABCA4 | c.6168G>A (p.Lys2056=) n.584G>A c.2544G>A (p.Lys848=) | ClinVar dbSNP COSMIC |
| 1 | g.94001973T>A | CA341278354 | ABCA4 | c.6167A>T (p.Lys2056Met) n.583A>T c.2543A>T (p.Lys848Met) | |
| 1 | g.94001973T>C | CA956997 | ABCA4 | c.6167A>G (p.Lys2056Arg) n.583A>G c.2543A>G (p.Lys848Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001973T>G | CA341278355 | ABCA4 | c.6167A>C (p.Lys2056Thr) n.583A>C c.2543A>C (p.Lys848Thr) | |
| 1 | g.94001973T= | CA1181398707 | ABCA4 | c.6167A= (p.Lys2056=) n.583A= c.2543A= (p.Lys848=) | |
| 1 | g.94001974T>A | CA227371 | ABCA4 | c.6166A>T (p.Lys2056Ter) n.582A>T c.2542A>T (p.Lys848Ter) | ClinVar dbSNP |
| 1 | g.94001974T>C | CA341278356 | ABCA4 | c.6166A>G (p.Lys2056Glu) n.582A>G c.2542A>G (p.Lys848Glu) | |
| 1 | g.94001974T>G | CA341278357 | ABCA4 | c.6166A>C (p.Lys2056Gln) n.582A>C c.2542A>C (p.Lys848Gln) | |
| 1 | g.94001974T= | CA1140726010 | ABCA4 | c.6166A= (p.Lys2056=) n.582A= c.2542A= (p.Lys848=) | |
| 1 | g.94001975A= | CA1181398711 | ABCA4 | c.6165T= (p.Ile2055=) n.581T= c.2541T= (p.Ile847=) | |
| 1 | g.94001975A>C | CA341278358 | ABCA4 | c.6165T>G (p.Ile2055Met) n.581T>G c.2541T>G (p.Ile847Met) | |
| 1 | g.94001975A>G | CA418812410 | ABCA4 | c.6165T>C (p.Ile2055=) n.581T>C c.2541T>C (p.Ile847=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001975A>T | CA418812406 | ABCA4 | c.6165T>A (p.Ile2055=) n.581T>A c.2541T>A (p.Ile847=) | |
| 1 | g.94001976A>C | CA341278361 | ABCA4 | c.6164T>G (p.Ile2055Ser) n.580T>G c.2540T>G (p.Ile847Ser) | |
| 1 | g.94001976A>G | CA341278360 | ABCA4 | c.6164T>C (p.Ile2055Thr) n.580T>C c.2540T>C (p.Ile847Thr) | |
| 1 | g.94001976A>T | CA341278359 | ABCA4 | c.6164T>A (p.Ile2055Asn) n.580T>A c.2540T>A (p.Ile847Asn) | |
| 1 | g.94001977T>A | CA341278362 | ABCA4 | c.6163A>T (p.Ile2055Phe) n.579A>T c.2539A>T (p.Ile847Phe) | dbSNP |
| 1 | g.94001977T>C | CA341278363 | ABCA4 | c.6163A>G (p.Ile2055Val) n.579A>G c.2539A>G (p.Ile847Val) | |
| 1 | g.94001977T>G | CA341278364 | ABCA4 | c.6163A>C (p.Ile2055Leu) n.579A>C c.2539A>C (p.Ile847Leu) | |
| 1 | g.94001978A= | CA1181398713 | ABCA4 | c.6162T= (p.Ser2054=) n.578T= c.2538T= (p.Ser846=) | |
| 1 | g.94001978A>C | CA341278365 | ABCA4 | c.6162T>G (p.Ser2054Arg) n.578T>G c.2538T>G (p.Ser846Arg) | |
| 1 | g.94001978A>G | CA418812415 | ABCA4 | c.6162T>C (p.Ser2054=) n.578T>C c.2538T>C (p.Ser846=) | ClinVar dbSNP |
| 1 | g.94001978A>T | CA341278366 | ABCA4 | c.6162T>A (p.Ser2054Arg) n.578T>A c.2538T>A (p.Ser846Arg) | |
| 1 | g.94001979C>A | CA341278369 | ABCA4 | c.6161G>T (p.Ser2054Ile) n.577G>T c.2537G>T (p.Ser846Ile) | ClinVar gnomAD v4 |
| 1 | g.94001979C>G | CA341278368 | ABCA4 | c.6161G>C (p.Ser2054Thr) n.577G>C c.2537G>C (p.Ser846Thr) | |
| 1 | g.94001979C>T | CA341278367 | ABCA4 | c.6161G>A (p.Ser2054Asn) n.577G>A c.2537G>A (p.Ser846Asn) | |
| 1 | g.94001980T>A | CA341278370 | ABCA4 | c.6160A>T (p.Ser2054Cys) n.576A>T c.2536A>T (p.Ser846Cys) | |
| 1 | g.94001980T>C | CA341278371 | ABCA4 | c.6160A>G (p.Ser2054Gly) n.576A>G c.2536A>G (p.Ser846Gly) | |
| 1 | g.94001980T>G | CA341278372 | ABCA4 | c.6160A>C (p.Ser2054Arg) n.576A>C c.2536A>C (p.Ser846Arg) | |
| 1 | g.94001981C>A | CA341278373 | ABCA4 | c.6159G>T (p.Trp2053Cys) n.575G>T c.2535G>T (p.Trp845Cys) | |
| 1 | g.94001981C>G | CA341278374 | ABCA4 | c.6159G>C (p.Trp2053Cys) n.575G>C c.2535G>C (p.Trp845Cys) | |
| 1 | g.94001981C>T | CA341278375 | ABCA4 | c.6159G>A (p.Trp2053Ter) n.575G>A c.2535G>A (p.Trp845Ter) | |
| 1 | g.94001982C>A | CA341278376 | ABCA4 | c.6158G>T (p.Trp2053Leu) n.574G>T c.2534G>T (p.Trp845Leu) | |
| 1 | g.94001982C>G | CA341278379 | ABCA4 | c.6158G>C (p.Trp2053Ser) n.574G>C c.2534G>C (p.Trp845Ser) | |
| 1 | g.94001982C>T | CA341278377 | ABCA4 | c.6158G>A (p.Trp2053Ter) n.574G>A c.2534G>A (p.Trp845Ter) | |
| 1 | g.94001983A= | CA1181398714 | ABCA4 | c.6157T= (p.Trp2053=) n.573T= c.2533T= (p.Trp845=) | |
| 1 | g.94001983A>C | CA341278381 | ABCA4 | c.6157T>G (p.Trp2053Gly) n.573T>G c.2533T>G (p.Trp845Gly) | |
| 1 | g.94001983A>G | CA956998 | ABCA4 | c.6157T>C (p.Trp2053Arg) n.573T>C c.2533T>C (p.Trp845Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001983A>T | CA341278383 | ABCA4 | c.6157T>A (p.Trp2053Arg) n.573T>A c.2533T>A (p.Trp845Arg) | |
| 1 | g.94001984G>A | CA418812433 | ABCA4 | c.6156C>T (p.Asn2052=) n.572C>T c.2532C>T (p.Asn844=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001984G>C | CA341278384 | ABCA4 | c.6156C>G (p.Asn2052Lys) n.572C>G c.2532C>G (p.Asn844Lys) | |
| 1 | g.94001984G= | CA1181398717 | ABCA4 | c.6156C= (p.Asn2052=) n.572C= c.2532C= (p.Asn844=) | |
| 1 | g.94001984G>T | CA956999 | ABCA4 | c.6156C>A (p.Asn2052Lys) n.572C>A c.2532C>A (p.Asn844Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001985T>A | CA341278386 | ABCA4 | c.6155A>T (p.Asn2052Ile) n.571A>T c.2531A>T (p.Asn844Ile) | |
| 1 | g.94001985T>C | CA341278387 | ABCA4 | c.6155A>G (p.Asn2052Ser) n.571A>G c.2531A>G (p.Asn844Ser) | |
| 1 | g.94001985T>G | CA341278389 | ABCA4 | c.6155A>C (p.Asn2052Thr) n.571A>C c.2531A>C (p.Asn844Thr) | |
| 1 | g.94001987del | CA2499214874 | ABCA4 | c.6155del (p.Asn2052ThrfsTer9) n.571del c.2531del (p.Asn844ThrfsTer9) | ClinVar dbSNP |
| 1 | g.94001986T>A | CA341278391 | ABCA4 | c.6154A>T (p.Asn2052Tyr) n.570A>T c.2530A>T (p.Asn844Tyr) | gnomAD v4 |
| 1 | g.94001986T>C | CA341278392 | ABCA4 | c.6154A>G (p.Asn2052Asp) n.570A>G c.2530A>G (p.Asn844Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001986T>G | CA341278393 | ABCA4 | c.6154A>C (p.Asn2052His) n.570A>C c.2530A>C (p.Asn844His) | |
| 1 | g.94001986T= | CA1181398719 | ABCA4 | c.6154A= (p.Asn2052=) n.570A= c.2530A= (p.Asn844=) | |
| 1 | g.94001987T>A | CA418812442 | ABCA4 | c.6153A>T (p.Ala2051=) n.569A>T c.2529A>T (p.Ala843=) | dbSNP |
| 1 | g.94001987T>C | CA418812452 | ABCA4 | c.6153A>G (p.Ala2051=) n.569A>G c.2529A>G (p.Ala843=) | |
| 1 | g.94001987T>G | CA418812456 | ABCA4 | c.6153A>C (p.Ala2051=) n.569A>C c.2529A>C (p.Ala843=) | |
| 1 | g.94001987T= | CA1181398721 | ABCA4 | c.6153A= (p.Ala2051=) n.569A= c.2529A= (p.Ala843=) | |
| 1 | g.94001988G>A | CA341278397 | ABCA4 | c.6152C>T (p.Ala2051Val) n.568C>T c.2528C>T (p.Ala843Val) | dbSNP gnomAD v4 |
| 1 | g.94001988G>C | CA341278399 | ABCA4 | c.6152C>G (p.Ala2051Gly) n.568C>G c.2528C>G (p.Ala843Gly) | |
| 1 | g.94001988G= | CA1181398722 | ABCA4 | c.6152C= (p.Ala2051=) n.568C= c.2528C= (p.Ala843=) | |
| 1 | g.94001988G>T | CA341278395 | ABCA4 | c.6152C>A (p.Ala2051Glu) n.568C>A c.2528C>A (p.Ala843Glu) | |
| 1 | g.94001989C>A | CA341278404 | ABCA4 | c.6151G>T (p.Ala2051Ser) n.567G>T c.2527G>T (p.Ala843Ser) | gnomAD v4 |
| 1 | g.94001989C>G | CA341278401 | ABCA4 | c.6151G>C (p.Ala2051Pro) n.567G>C c.2527G>C (p.Ala843Pro) | |
| 1 | g.94001989C>T | CA341278402 | ABCA4 | c.6151G>A (p.Ala2051Thr) n.567G>A c.2527G>A (p.Ala843Thr) | |
| 1 | g.94001990A>C | CA418812468 | ABCA4 | c.6150T>G (p.Val2050=) n.566T>G c.2526T>G (p.Val842=) | |
| 1 | g.94001990A>G | CA418812470 | ABCA4 | c.6150T>C (p.Val2050=) n.566T>C c.2526T>C (p.Val842=) | |
| 1 | g.94001990A>T | CA418812473 | ABCA4 | c.6150T>A (p.Val2050=) n.566T>A c.2526T>A (p.Val842=) | |
| 1 | g.94001991A>C | CA341278406 | ABCA4 | c.6149T>G (p.Val2050Gly) n.565T>G c.2525T>G (p.Val842Gly) | |
| 1 | g.94001991A>G | CA341278407 | ABCA4 | c.6149T>C (p.Val2050Ala) n.565T>C c.2525T>C (p.Val842Ala) | |
| 1 | g.94001991A>T | CA341278408 | ABCA4 | c.6149T>A (p.Val2050Asp) n.565T>A c.2525T>A (p.Val842Asp) | COSMIC |
| 1 | g.94001992C>A | CA341278410 | ABCA4 | c.6148G>T (p.Val2050Phe) n.564G>T c.2524G>T (p.Val842Phe) | |
| 1 | g.94001992C= | CA1140611817 | ABCA4 | c.6148G= (p.Val2050=) n.564G= c.2524G= (p.Val842=) | |
| 1 | g.94001992C>G | CA220688 | ABCA4 | c.6148G>C (p.Val2050Leu) n.564G>C c.2524G>C (p.Val842Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.[94001992C>G;94014622G>T] | CA645372399 | ABCA4 | c.[5381C>A;6148G>C] (p.[Ala1794Asp;Val2050Leu]) c.[1757C>A;2524G>C] (p.[Ala586Asp;Val842Leu]) | ClinVar |
| 1 | g.94001992C>T | CA341278413 | ABCA4 | c.6148G>A (p.Val2050Ile) n.564G>A c.2524G>A (p.Val842Ile) |