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.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=) |