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.235806722_235806723delinsTC | CA2486650286 | LYST | c.2413_2414delinsGA (p.Glu805=) c.1816_1817delinsGA (p.Glu606=) n.2964_2965delinsGA c.76_77delinsGA (p.Glu26=) n.2595_2596delinsGA | |
| 1 | g.235806723del | CA344844 | LYST | c.2413del (p.Glu805AsnfsTer2) c.1816del (p.Glu606AsnfsTer2) n.2964del c.76del (p.Glu26AsnfsTer2) n.2595del | ClinVar dbSNP gnomAD v4 |
| 1 | g.235806723C>A | CA344957843 | LYST | c.2413G>T (p.Glu805Ter) c.1816G>T (p.Glu606Ter) n.2964G>T c.76G>T (p.Glu26Ter) n.2595G>T | ClinVar |
| 1 | g.235806723C= | CA1141188444 | LYST | c.2413G= (p.Glu805=) c.1816G= (p.Glu606=) n.2964G= c.76G= (p.Glu26=) n.2595G= | |
| 1 | g.235806723C>G | CA344957846 | LYST | c.2413G>C (p.Glu805Gln) c.1816G>C (p.Glu606Gln) n.2964G>C c.76G>C (p.Glu26Gln) n.2595G>C | |
| 1 | g.235806723C>T | CA1467284 | LYST | c.2413G>A (p.Glu805Lys) c.1816G>A (p.Glu606Lys) n.2964G>A c.76G>A (p.Glu26Lys) n.2595G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.235806724G>A | CA39617473 | LYST | c.2412C>T (p.Ile804=) c.1815C>T (p.Ile605=) n.2963C>T c.75C>T (p.Ile25=) n.2594C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.235806724G>C | CA344957849 | LYST | c.2412C>G (p.Ile804Met) c.1815C>G (p.Ile605Met) n.2963C>G c.75C>G (p.Ile25Met) n.2594C>G | |
| 1 | g.235806724G= | CA2486650287 | LYST | c.2412C= (p.Ile804=) c.1815C= (p.Ile605=) n.2963C= c.75C= (p.Ile25=) n.2594C= | |
| 1 | g.235806724G>T | CA423775459 | LYST | c.2412C>A (p.Ile804=) c.1815C>A (p.Ile605=) n.2963C>A c.75C>A (p.Ile25=) n.2594C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235806725A>C | CA344957851 | LYST | c.2411T>G (p.Ile804Ser) c.1814T>G (p.Ile605Ser) n.2962T>G c.74T>G (p.Ile25Ser) n.2593T>G | |
| 1 | g.235806725A>G | CA344957853 | LYST | c.2411T>C (p.Ile804Thr) c.1814T>C (p.Ile605Thr) n.2962T>C c.74T>C (p.Ile25Thr) n.2593T>C | |
| 1 | g.235806725A>T | CA344957855 | LYST | c.2411T>A (p.Ile804Asn) c.1814T>A (p.Ile605Asn) n.2962T>A c.74T>A (p.Ile25Asn) n.2593T>A | |
| 1 | g.235806726T>A | CA344957859 | LYST | c.2410A>T (p.Ile804Phe) c.1813A>T (p.Ile605Phe) n.2961A>T c.73A>T (p.Ile25Phe) n.2592A>T | |
| 1 | g.235806726T>C | CA344957858 | LYST | c.2410A>G (p.Ile804Val) c.1813A>G (p.Ile605Val) n.2961A>G c.73A>G (p.Ile25Val) n.2592A>G | |
| 1 | g.235806726T>G | CA344957857 | LYST | c.2410A>C (p.Ile804Leu) c.1813A>C (p.Ile605Leu) n.2961A>C c.73A>C (p.Ile25Leu) n.2592A>C | |
| 1 | g.235806727T>A | CA423775461 | LYST | c.2409A>T (p.Ile803=) c.1812A>T (p.Ile604=) n.2960A>T c.72A>T (p.Ile24=) n.2591A>T | |
| 1 | g.235806727T>C | CA344957862 | LYST | c.2409A>G (p.Ile803Met) c.1812A>G (p.Ile604Met) n.2960A>G c.72A>G (p.Ile24Met) n.2591A>G | |
| 1 | g.235806727T>G | CA39617475 | LYST | c.2409A>C (p.Ile803=) c.1812A>C (p.Ile604=) n.2960A>C c.72A>C (p.Ile24=) n.2591A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235806727T= | CA2486650288 | LYST | c.2409A= (p.Ile803=) c.1812A= (p.Ile604=) n.2960A= c.72A= (p.Ile24=) n.2591A= | |
| 1 | g.235806728A>C | CA344957864 | LYST | c.2408T>G (p.Ile803Arg) c.1811T>G (p.Ile604Arg) n.2959T>G c.71T>G (p.Ile24Arg) n.2590T>G | |
| 1 | g.235806728A>G | CA344957866 | LYST | c.2408T>C (p.Ile803Thr) c.1811T>C (p.Ile604Thr) n.2959T>C c.71T>C (p.Ile24Thr) n.2590T>C | |
| 1 | g.235806728A>T | CA344957868 | LYST | c.2408T>A (p.Ile803Lys) c.1811T>A (p.Ile604Lys) n.2959T>A c.71T>A (p.Ile24Lys) n.2590T>A | |
| 1 | g.235806729T>A | CA344957870 | LYST | c.2407A>T (p.Ile803Leu) c.1810A>T (p.Ile604Leu) n.2958A>T c.70A>T (p.Ile24Leu) n.2589A>T | |
| 1 | g.235806729T>C | CA344957872 | LYST | c.2407A>G (p.Ile803Val) c.1810A>G (p.Ile604Val) n.2958A>G c.70A>G (p.Ile24Val) n.2589A>G | |
| 1 | g.235806729T>G | CA344957873 | LYST | c.2407A>C (p.Ile803Leu) c.1810A>C (p.Ile604Leu) n.2958A>C c.70A>C (p.Ile24Leu) n.2589A>C | |
| 1 | g.235806730T>A | CA344957875 | LYST | c.2406A>T (p.Gln802His) c.1809A>T (p.Gln603His) n.2957A>T c.69A>T (p.Gln23His) n.2588A>T | |
| 1 | g.235806730T>C | CA423775463 | LYST | c.2406A>G (p.Gln802=) c.1809A>G (p.Gln603=) n.2957A>G c.69A>G (p.Gln23=) n.2588A>G | |
| 1 | g.235806730T>G | CA344957876 | LYST | c.2406A>C (p.Gln802His) c.1809A>C (p.Gln603His) n.2957A>C c.69A>C (p.Gln23His) n.2588A>C | |
| 1 | g.235806731T>A | CA344957878 | LYST | c.2405A>T (p.Gln802Leu) c.1808A>T (p.Gln603Leu) n.2956A>T c.68A>T (p.Gln23Leu) n.2587A>T | |
| 1 | g.235806731T>C | CA344957880 | LYST | c.2405A>G (p.Gln802Arg) c.1808A>G (p.Gln603Arg) n.2956A>G c.68A>G (p.Gln23Arg) n.2587A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235806731T>G | CA344957882 | LYST | c.2405A>C (p.Gln802Pro) c.1808A>C (p.Gln603Pro) n.2956A>C c.68A>C (p.Gln23Pro) n.2587A>C | |
| 1 | g.235806731T= | CA2486650289 | LYST | c.2405A= (p.Gln802=) c.1808A= (p.Gln603=) n.2956A= c.68A= (p.Gln23=) n.2587A= | |
| 1 | g.235806732G>A | CA344957887 | LYST | c.2404C>T (p.Gln802Ter) c.1807C>T (p.Gln603Ter) n.2955C>T c.67C>T (p.Gln23Ter) n.2586C>T | |
| 1 | g.235806732G>C | CA344957886 | LYST | c.2404C>G (p.Gln802Glu) c.1807C>G (p.Gln603Glu) n.2955C>G c.67C>G (p.Gln23Glu) n.2586C>G | |
| 1 | g.235806732G>T | CA344957884 | LYST | c.2404C>A (p.Gln802Lys) c.1807C>A (p.Gln603Lys) n.2955C>A c.67C>A (p.Gln23Lys) n.2586C>A | ClinVar gnomAD v4 |
| 1 | g.235806733A>C | CA344957888 | LYST | c.2403T>G (p.Ser801Arg) c.1806T>G (p.Ser602Arg) n.2954T>G c.66T>G (p.Ser22Arg) n.2585T>G | gnomAD v4 |
| 1 | g.235806733A>G | CA423775467 | LYST | c.2403T>C (p.Ser801=) c.1806T>C (p.Ser602=) n.2954T>C c.66T>C (p.Ser22=) n.2585T>C | gnomAD v4 |
| 1 | g.235806733A>T | CA344957890 | LYST | c.2403T>A (p.Ser801Arg) c.1806T>A (p.Ser602Arg) n.2954T>A c.66T>A (p.Ser22Arg) n.2585T>A | |
| 1 | g.235806734C>A | CA344957892 | LYST | c.2402G>T (p.Ser801Ile) c.1805G>T (p.Ser602Ile) n.2953G>T c.65G>T (p.Ser22Ile) n.2584G>T | |
| 1 | g.235806734C>G | CA344957894 | LYST | c.2402G>C (p.Ser801Thr) c.1805G>C (p.Ser602Thr) n.2953G>C c.65G>C (p.Ser22Thr) n.2584G>C | |
| 1 | g.235806734C>T | CA344957895 | LYST | c.2402G>A (p.Ser801Asn) c.1805G>A (p.Ser602Asn) n.2953G>A c.65G>A (p.Ser22Asn) n.2584G>A | |
| 1 | g.235806735T>A | CA344957897 | LYST | c.2401A>T (p.Ser801Cys) c.1804A>T (p.Ser602Cys) n.2952A>T c.64A>T (p.Ser22Cys) n.2583A>T | |
| 1 | g.235806735T>C | CA344957898 | LYST | c.2401A>G (p.Ser801Gly) c.1804A>G (p.Ser602Gly) n.2952A>G c.64A>G (p.Ser22Gly) n.2583A>G | dbSNP |
| 1 | g.235806735T>G | CA344957900 | LYST | c.2401A>C (p.Ser801Arg) c.1804A>C (p.Ser602Arg) n.2952A>C c.64A>C (p.Ser22Arg) n.2583A>C | |
| 1 | g.235806735T= | CA2486650290 | LYST | c.2401A= (p.Ser801=) c.1804A= (p.Ser602=) n.2952A= c.64A= (p.Ser22=) n.2583A= | |
| 1 | g.235806736T>A | CA423775469 | LYST | c.2400A>T (p.Val800=) c.1803A>T (p.Val601=) n.2951A>T c.63A>T (p.Val21=) n.2582A>T | |
| 1 | g.235806736T>C | CA423775472 | LYST | c.2400A>G (p.Val800=) c.1803A>G (p.Val601=) n.2951A>G c.63A>G (p.Val21=) n.2582A>G | |
| 1 | g.235806736T>G | CA423775471 | LYST | c.2400A>C (p.Val800=) c.1803A>C (p.Val601=) n.2951A>C c.63A>C (p.Val21=) n.2582A>C | |
| 1 | g.235806737A= | CA2486650291 | LYST | c.2399T= (p.Val800=) c.1802T= (p.Val601=) n.2950T= c.62T= (p.Val21=) n.2581T= |