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.241881973C>A | CA345461310 | EXO1 | c.2167C>A (p.Arg723Ser) c.304+2630C>A c.2164C>A (p.Arg722Ser) c.2047C>A (p.Arg683Ser) c.1204C>A (p.Arg402Ser) n.2752C>A | dbSNP gnomAD v4 |
| 1 | g.241881973C= | CA1139885460 | EXO1 | c.2167C= (p.Arg723=) c.304+2630C= c.2164C= (p.Arg722=) c.2047C= (p.Arg683=) c.1204C= (p.Arg402=) n.2752C= | |
| 1 | g.241881973C>G | CA345461313 | EXO1 | c.2167C>G (p.Arg723Gly) c.304+2630C>G c.2164C>G (p.Arg722Gly) c.2047C>G (p.Arg683Gly) c.1204C>G (p.Arg402Gly) n.2752C>G | dbSNP |
| 1 | g.241881973C>T | CA1481543 | EXO1 | c.2167C>T (p.Arg723Cys) c.304+2630C>T c.2164C>T (p.Arg722Cys) c.2047C>T (p.Arg683Cys) c.1204C>T (p.Arg402Cys) n.2752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241881974G>A | CA345461320 | EXO1 | c.2168G>A (p.Arg723His) c.304+2631G>A c.2165G>A (p.Arg722His) c.2048G>A (p.Arg683His) c.1205G>A (p.Arg402His) n.2753G>A | dbSNP gnomAD v4 |
| 1 | g.241881974G>C | CA345461322 | EXO1 | c.2168G>C (p.Arg723Pro) c.304+2631G>C c.2165G>C (p.Arg722Pro) c.2048G>C (p.Arg683Pro) c.1205G>C (p.Arg402Pro) n.2753G>C | |
| 1 | g.241881974G= | CA1229734158 | EXO1 | c.2168G= (p.Arg723=) c.304+2631G= c.2165G= (p.Arg722=) c.2048G= (p.Arg683=) c.1205G= (p.Arg402=) n.2753G= | |
| 1 | g.241881974G>T | CA345461317 | EXO1 | c.2168G>T (p.Arg723Leu) c.304+2631G>T c.2165G>T (p.Arg722Leu) c.2048G>T (p.Arg683Leu) c.1205G>T (p.Arg402Leu) n.2753G>T | |
| 1 | g.241881974_241881981del | CA2651275892 | EXO1 | c.2168_2175del (p.Arg723ProfsTer18) c.304+2631_304+2638del c.2165_2172del (p.Arg722ProfsTer18) c.2048_2055del (p.Arg683ProfsTer18) c.1205_1212del (p.Arg402ProfsTer18) n.2753_2760del | gnomAD v4 |
| 1 | g.241881975T>A | CA424089739 | EXO1 | c.2169T>A (p.Arg723=) c.304+2632T>A c.2166T>A (p.Arg722=) c.2049T>A (p.Arg683=) c.1206T>A (p.Arg402=) n.2754T>A | |
| 1 | g.241881975T>C | CA424089740 | EXO1 | c.2169T>C (p.Arg723=) c.304+2632T>C c.2166T>C (p.Arg722=) c.2049T>C (p.Arg683=) c.1206T>C (p.Arg402=) n.2754T>C | gnomAD v4 |
| 1 | g.241881975T>G | CA40380591 | EXO1 | c.2169T>G (p.Arg723=) c.304+2632T>G c.2166T>G (p.Arg722=) c.2049T>G (p.Arg683=) c.1206T>G (p.Arg402=) n.2754T>G | dbSNP |
| 1 | g.241881975T= | CA1229734159 | EXO1 | c.2169T= (p.Arg723=) c.304+2632T= c.2166T= (p.Arg722=) c.2049T= (p.Arg683=) c.1206T= (p.Arg402=) n.2754T= | |
| 1 | g.241881977dup | CA2748377646 | EXO1 | c.2171dup (p.Leu724PhefsTer20) c.304+2634dup c.2168dup (p.Leu723PhefsTer20) c.2051dup (p.Leu684PhefsTer20) c.1208dup (p.Leu403PhefsTer20) n.2756dup | |
| 1 | g.241881977del | CA2651275893 | EXO1 | c.2171del (p.Leu724TyrfsTer11) c.304+2634del c.2168del (p.Leu723TyrfsTer11) c.2051del (p.Leu684TyrfsTer11) c.1208del (p.Leu403TyrfsTer11) n.2756del | gnomAD v4 |
| 1 | g.241881976T>A | CA345461323 | EXO1 | c.2170T>A (p.Leu724Ile) c.304+2633T>A c.2167T>A (p.Leu723Ile) c.2050T>A (p.Leu684Ile) c.1207T>A (p.Leu403Ile) n.2755T>A | |
| 1 | g.241881976T>C | CA424089741 | EXO1 | c.2170T>C (p.Leu724=) c.304+2633T>C c.2167T>C (p.Leu723=) c.2050T>C (p.Leu684=) c.1207T>C (p.Leu403=) n.2755T>C | gnomAD v4 |
| 1 | g.241881976T>G | CA345461325 | EXO1 | c.2170T>G (p.Leu724Val) c.304+2633T>G c.2167T>G (p.Leu723Val) c.2050T>G (p.Leu684Val) c.1207T>G (p.Leu403Val) n.2755T>G | |
| 1 | g.241881977T>A | CA345461326 | EXO1 | c.2171T>A (p.Leu724Ter) c.304+2634T>A c.2168T>A (p.Leu723Ter) c.2051T>A (p.Leu684Ter) c.1208T>A (p.Leu403Ter) n.2756T>A | dbSNP |
| 1 | g.241881977T>C | CA345461327 | EXO1 | c.2171T>C (p.Leu724Ser) c.304+2634T>C c.2168T>C (p.Leu723Ser) c.2051T>C (p.Leu684Ser) c.1208T>C (p.Leu403Ser) n.2756T>C | |
| 1 | g.241881977T>G | CA345461329 | EXO1 | c.2171T>G (p.Leu724Ter) c.304+2634T>G c.2168T>G (p.Leu723Ter) c.2051T>G (p.Leu684Ter) c.1208T>G (p.Leu403Ter) n.2756T>G | |
| 1 | g.241881977T= | CA1229734160 | EXO1 | c.2171T= (p.Leu724=) c.304+2634T= c.2168T= (p.Leu723=) c.2051T= (p.Leu684=) c.1208T= (p.Leu403=) n.2756T= | |
| 1 | g.241881978A>C | CA345461331 | EXO1 | c.2172A>C (p.Leu724Phe) c.304+2635A>C c.2169A>C (p.Leu723Phe) c.2052A>C (p.Leu684Phe) c.1209A>C (p.Leu403Phe) n.2757A>C | |
| 1 | g.241881978A>G | CA424089742 | EXO1 | c.2172A>G (p.Leu724=) c.304+2635A>G c.2169A>G (p.Leu723=) c.2052A>G (p.Leu684=) c.1209A>G (p.Leu403=) n.2757A>G | gnomAD v4 |
| 1 | g.241881978A>T | CA345461332 | EXO1 | c.2172A>T (p.Leu724Phe) c.304+2635A>T c.2169A>T (p.Leu723Phe) c.2052A>T (p.Leu684Phe) c.1209A>T (p.Leu403Phe) n.2757A>T | gnomAD v4 |
| 1 | g.241881979T>A | CA345461335 | EXO1 | c.2173T>A (p.Ser725Thr) c.304+2636T>A c.2170T>A (p.Ser724Thr) c.2053T>A (p.Ser685Thr) c.1210T>A (p.Ser404Thr) n.2758T>A | |
| 1 | g.241881979T>C | CA345461337 | EXO1 | c.2173T>C (p.Ser725Pro) c.304+2636T>C c.2170T>C (p.Ser724Pro) c.2053T>C (p.Ser685Pro) c.1210T>C (p.Ser404Pro) n.2758T>C | gnomAD v4 |
| 1 | g.241881979T>G | CA345461339 | EXO1 | c.2173T>G (p.Ser725Ala) c.304+2636T>G c.2170T>G (p.Ser724Ala) c.2053T>G (p.Ser685Ala) c.1210T>G (p.Ser404Ala) n.2758T>G | |
| 1 | g.241881980C>A | CA345461342 | EXO1 | c.2174C>A (p.Ser725Tyr) c.304+2637C>A c.2171C>A (p.Ser724Tyr) c.2054C>A (p.Ser685Tyr) c.1211C>A (p.Ser404Tyr) n.2759C>A | gnomAD v4 |
| 1 | g.241881980C>G | CA345461344 | EXO1 | c.2174C>G (p.Ser725Cys) c.304+2637C>G c.2171C>G (p.Ser724Cys) c.2054C>G (p.Ser685Cys) c.1211C>G (p.Ser404Cys) n.2759C>G | |
| 1 | g.241881980C>T | CA345461347 | EXO1 | c.2174C>T (p.Ser725Phe) c.304+2637C>T c.2171C>T (p.Ser724Phe) c.2054C>T (p.Ser685Phe) c.1211C>T (p.Ser404Phe) n.2759C>T | |
| 1 | g.241881980_241881989del | CA2748377647 | EXO1 | c.2174_2183del (p.Ser725Ter) c.304+2637_304+2646del c.2171_2180del (p.Ser724Ter) c.2054_2063del (p.Ser685Ter) c.1211_1220del (p.Ser404Ter) n.2759_2768del | |
| 1 | g.241881981T>A | CA1481544 | EXO1 | c.2175T>A (p.Ser725=) c.304+2638T>A c.2172T>A (p.Ser724=) c.2055T>A (p.Ser685=) c.1212T>A (p.Ser404=) n.2760T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.241881981T>C | CA424089743 | EXO1 | c.2175T>C (p.Ser725=) c.304+2638T>C c.2172T>C (p.Ser724=) c.2055T>C (p.Ser685=) c.1212T>C (p.Ser404=) n.2760T>C | gnomAD v4 |
| 1 | g.241881981T>G | CA424089744 | EXO1 | c.2175T>G (p.Ser725=) c.304+2638T>G c.2172T>G (p.Ser724=) c.2055T>G (p.Ser685=) c.1212T>G (p.Ser404=) n.2760T>G | |
| 1 | g.241881981T= | CA1140013645 | EXO1 | c.2175T= (p.Ser725=) c.304+2638T= c.2172T= (p.Ser724=) c.2055T= (p.Ser685=) c.1212T= (p.Ser404=) n.2760T= | |
| 1 | g.241881981dup | CA2748377648 | EXO1 | c.2175dup (p.His726SerfsTer18) c.304+2638dup c.2172dup (p.His725SerfsTer18) c.2055dup (p.His686SerfsTer18) c.1212dup (p.His405SerfsTer18) n.2760dup | |
| 1 | g.241881982C>A | CA345461354 | EXO1 | c.2176C>A (p.His726Asn) c.304+2639C>A c.2173C>A (p.His725Asn) c.2056C>A (p.His686Asn) c.1213C>A (p.His405Asn) n.2761C>A | gnomAD v4 |
| 1 | g.241881982C= | CA1229734161 | EXO1 | c.2176C= (p.His726=) c.304+2639C= c.2173C= (p.His725=) c.2056C= (p.His686=) c.1213C= (p.His405=) n.2761C= | |
| 1 | g.241881982C>G | CA345461350 | EXO1 | c.2176C>G (p.His726Asp) c.304+2639C>G c.2173C>G (p.His725Asp) c.2056C>G (p.His686Asp) c.1213C>G (p.His405Asp) n.2761C>G | |
| 1 | g.241881982C>T | CA1481545 | EXO1 | c.2176C>T (p.His726Tyr) c.304+2639C>T c.2173C>T (p.His725Tyr) c.2056C>T (p.His686Tyr) c.1213C>T (p.His405Tyr) n.2761C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.241881983A>C | CA345461356 | EXO1 | c.2177A>C (p.His726Pro) c.304+2640A>C c.2174A>C (p.His725Pro) c.2057A>C (p.His686Pro) c.1214A>C (p.His405Pro) n.2762A>C | gnomAD v4 |
| 1 | g.241881983A>G | CA345461357 | EXO1 | c.2177A>G (p.His726Arg) c.304+2640A>G c.2174A>G (p.His725Arg) c.2057A>G (p.His686Arg) c.1214A>G (p.His405Arg) n.2762A>G | |
| 1 | g.241881983A>T | CA345461359 | EXO1 | c.2177A>T (p.His726Leu) c.304+2640A>T c.2174A>T (p.His725Leu) c.2057A>T (p.His686Leu) c.1214A>T (p.His405Leu) n.2762A>T | |
| 1 | g.241881984T>A | CA345461362 | EXO1 | c.2178T>A (p.His726Gln) c.304+2641T>A c.2175T>A (p.His725Gln) c.2058T>A (p.His686Gln) c.1215T>A (p.His405Gln) n.2763T>A | gnomAD v4 |
| 1 | g.241881984T>C | CA424089745 | EXO1 | c.2178T>C (p.His726=) c.304+2641T>C c.2175T>C (p.His725=) c.2058T>C (p.His686=) c.1215T>C (p.His405=) n.2763T>C | gnomAD v4 |
| 1 | g.241881984T>G | CA345461363 | EXO1 | c.2178T>G (p.His726Gln) c.304+2641T>G c.2175T>G (p.His725Gln) c.2058T>G (p.His686Gln) c.1215T>G (p.His405Gln) n.2763T>G | |
| 1 | g.241881985T>A | CA345461365 | EXO1 | c.2179T>A (p.Phe727Ile) c.304+2642T>A c.2176T>A (p.Phe726Ile) c.2059T>A (p.Phe687Ile) c.1216T>A (p.Phe406Ile) n.2764T>A | |
| 1 | g.241881985T>C | CA345461368 | EXO1 | c.2179T>C (p.Phe727Leu) c.304+2642T>C c.2176T>C (p.Phe726Leu) c.2059T>C (p.Phe687Leu) c.1216T>C (p.Phe406Leu) n.2764T>C | gnomAD v4 |
| 1 | g.241881985T>G | CA345461369 | EXO1 | c.2179T>G (p.Phe727Val) c.304+2642T>G c.2176T>G (p.Phe726Val) c.2059T>G (p.Phe687Val) c.1216T>G (p.Phe406Val) n.2764T>G | dbSNP gnomAD v4 |