WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.5618535C>A | CA2834638 | EVC2 | c.2649G>T (p.Ala883=) c.2409G>T (p.Ala803=) c.*1042G>T (n.*1042G>T) c.2658G>T (p.Ala886=) c.2418G>T (p.Ala806=) c.969G>T (p.Ala323=) n.2714G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618535C= | CA1435421558 | EVC2 | c.2649G= (p.Ala883=) c.2409G= (p.Ala803=) c.*1042G= (n.*1042G=) c.2658G= (p.Ala886=) c.2418G= (p.Ala806=) c.969G= (p.Ala323=) n.2714G= | |
| 4 | g.5618535C>G | CA438203803 | EVC2 | c.2649G>C (p.Ala883=) c.2409G>C (p.Ala803=) c.*1042G>C (n.*1042G>C) c.2658G>C (p.Ala886=) c.2418G>C (p.Ala806=) c.969G>C (p.Ala323=) n.2714G>C | |
| 4 | g.5618535C>T | CA2834639 | EVC2 | c.2649G>A (p.Ala883=) c.2409G>A (p.Ala803=) c.*1042G>A (n.*1042G>A) c.2658G>A (p.Ala886=) c.2418G>A (p.Ala806=) c.969G>A (p.Ala323=) n.2714G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618536G>A | CA2834640 | EVC2 | c.2648C>T (p.Ala883Val) c.2408C>T (p.Ala803Val) c.*1041C>T (n.*1041C>T) c.2657C>T (p.Ala886Val) c.2417C>T (p.Ala806Val) c.968C>T (p.Ala323Val) n.2713C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618536G>C | CA356143162 | EVC2 | c.2648C>G (p.Ala883Gly) c.2408C>G (p.Ala803Gly) c.*1041C>G (n.*1041C>G) c.2657C>G (p.Ala886Gly) c.2417C>G (p.Ala806Gly) c.968C>G (p.Ala323Gly) n.2713C>G | |
| 4 | g.5618536G= | CA1435421564 | EVC2 | c.2648C= (p.Ala883=) c.2408C= (p.Ala803=) c.*1041C= (n.*1041C=) c.2657C= (p.Ala886=) c.2417C= (p.Ala806=) c.968C= (p.Ala323=) n.2713C= | |
| 4 | g.5618536G>T | CA356143163 | EVC2 | c.2648C>A (p.Ala883Glu) c.2408C>A (p.Ala803Glu) c.*1041C>A (n.*1041C>A) c.2657C>A (p.Ala886Glu) c.2417C>A (p.Ala806Glu) c.968C>A (p.Ala323Glu) n.2713C>A | |
| 4 | g.5618537C>A | CA356143170 | EVC2 | c.2647G>T (p.Ala883Ser) c.2407G>T (p.Ala803Ser) c.*1040G>T (n.*1040G>T) c.2656G>T (p.Ala886Ser) c.2416G>T (p.Ala806Ser) c.967G>T (p.Ala323Ser) n.2712G>T | |
| 4 | g.5618537C>G | CA356143173 | EVC2 | c.2647G>C (p.Ala883Pro) c.2407G>C (p.Ala803Pro) c.*1040G>C (n.*1040G>C) c.2656G>C (p.Ala886Pro) c.2416G>C (p.Ala806Pro) c.967G>C (p.Ala323Pro) n.2712G>C | |
| 4 | g.5618537C>T | CA356143167 | EVC2 | c.2647G>A (p.Ala883Thr) c.2407G>A (p.Ala803Thr) c.*1040G>A (n.*1040G>A) c.2656G>A (p.Ala886Thr) c.2416G>A (p.Ala806Thr) c.967G>A (p.Ala323Thr) n.2712G>A | gnomAD v4 |
| 4 | g.5618538A>C | CA438203804 | EVC2 | c.2646T>G (p.Thr882=) c.2406T>G (p.Thr802=) c.*1039T>G (n.*1039T>G) c.2655T>G (p.Thr885=) c.2415T>G (p.Thr805=) c.966T>G (p.Thr322=) n.2711T>G | |
| 4 | g.5618538A>G | CA438203805 | EVC2 | c.2646T>C (p.Thr882=) c.2406T>C (p.Thr802=) c.*1039T>C (n.*1039T>C) c.2655T>C (p.Thr885=) c.2415T>C (p.Thr805=) c.966T>C (p.Thr322=) n.2711T>C | |
| 4 | g.5618538A>T | CA438203806 | EVC2 | c.2646T>A (p.Thr882=) c.2406T>A (p.Thr802=) c.*1039T>A (n.*1039T>A) c.2655T>A (p.Thr885=) c.2415T>A (p.Thr805=) c.966T>A (p.Thr322=) n.2711T>A | gnomAD v4 |
| 4 | g.5618539G>A | CA356143192 | EVC2 | c.2645C>T (p.Thr882Ile) c.2405C>T (p.Thr802Ile) c.*1038C>T (n.*1038C>T) c.2654C>T (p.Thr885Ile) c.2414C>T (p.Thr805Ile) c.965C>T (p.Thr322Ile) n.2710C>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618539G>C | CA356143196 | EVC2 | c.2645C>G (p.Thr882Ser) c.2405C>G (p.Thr802Ser) c.*1038C>G (n.*1038C>G) c.2654C>G (p.Thr885Ser) c.2414C>G (p.Thr805Ser) c.965C>G (p.Thr322Ser) n.2710C>G | |
| 4 | g.5618539G= | CA1435421573 | EVC2 | c.2645C= (p.Thr882=) c.2405C= (p.Thr802=) c.*1038C= (n.*1038C=) c.2654C= (p.Thr885=) c.2414C= (p.Thr805=) c.965C= (p.Thr322=) n.2710C= | |
| 4 | g.5618539G>T | CA356143198 | EVC2 | c.2645C>A (p.Thr882Asn) c.2405C>A (p.Thr802Asn) c.*1038C>A (n.*1038C>A) c.2654C>A (p.Thr885Asn) c.2414C>A (p.Thr805Asn) c.965C>A (p.Thr322Asn) n.2710C>A | |
| 4 | g.5618540T>A | CA356143201 | EVC2 | c.2644A>T (p.Thr882Ser) c.2404A>T (p.Thr802Ser) c.*1037A>T (n.*1037A>T) c.2653A>T (p.Thr885Ser) c.2413A>T (p.Thr805Ser) c.964A>T (p.Thr322Ser) n.2709A>T | |
| 4 | g.5618540T>C | CA2834641 | EVC2 | c.2644A>G (p.Thr882Ala) c.2404A>G (p.Thr802Ala) c.*1037A>G (n.*1037A>G) c.2653A>G (p.Thr885Ala) c.2413A>G (p.Thr805Ala) c.964A>G (p.Thr322Ala) n.2709A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618540T>G | CA356143205 | EVC2 | c.2644A>C (p.Thr882Pro) c.2404A>C (p.Thr802Pro) c.*1037A>C (n.*1037A>C) c.2653A>C (p.Thr885Pro) c.2413A>C (p.Thr805Pro) c.964A>C (p.Thr322Pro) n.2709A>C | |
| 4 | g.5618540T= | CA1435421577 | EVC2 | c.2644A= (p.Thr882=) c.2404A= (p.Thr802=) c.*1037A= (n.*1037A=) c.2653A= (p.Thr885=) c.2413A= (p.Thr805=) c.964A= (p.Thr322=) n.2709A= | |
| 4 | g.5618541C>A | CA2834643 | EVC2 | c.2643G>T (p.Gln881His) c.2403G>T (p.Gln801His) c.*1036G>T (n.*1036G>T) c.2652G>T (p.Gln884His) c.2412G>T (p.Gln804His) c.963G>T (p.Gln321His) n.2708G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618541C= | CA1435421586 | EVC2 | c.2643G= (p.Gln881=) c.2403G= (p.Gln801=) c.*1036G= (n.*1036G=) c.2652G= (p.Gln884=) c.2412G= (p.Gln804=) c.963G= (p.Gln321=) n.2708G= | |
| 4 | g.5618541C>G | CA2834642 | EVC2 | c.2643G>C (p.Gln881His) c.2403G>C (p.Gln801His) c.*1036G>C (n.*1036G>C) c.2652G>C (p.Gln884His) c.2412G>C (p.Gln804His) c.963G>C (p.Gln321His) n.2708G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618541C>T | CA438203807 | EVC2 | c.2643G>A (p.Gln881=) c.2403G>A (p.Gln801=) c.*1036G>A (n.*1036G>A) c.2652G>A (p.Gln884=) c.2412G>A (p.Gln804=) c.963G>A (p.Gln321=) n.2708G>A | gnomAD v4 |
| 4 | g.5618542T>A | CA356143217 | EVC2 | c.2642A>T (p.Gln881Leu) c.2402A>T (p.Gln801Leu) c.*1035A>T (n.*1035A>T) c.2651A>T (p.Gln884Leu) c.2411A>T (p.Gln804Leu) c.962A>T (p.Gln321Leu) n.2707A>T | |
| 4 | g.5618542T>C | CA356143218 | EVC2 | c.2642A>G (p.Gln881Arg) c.2402A>G (p.Gln801Arg) c.*1035A>G (n.*1035A>G) c.2651A>G (p.Gln884Arg) c.2411A>G (p.Gln804Arg) c.962A>G (p.Gln321Arg) n.2707A>G | |
| 4 | g.5618542T>G | CA356143222 | EVC2 | c.2642A>C (p.Gln881Pro) c.2402A>C (p.Gln801Pro) c.*1035A>C (n.*1035A>C) c.2651A>C (p.Gln884Pro) c.2411A>C (p.Gln804Pro) c.962A>C (p.Gln321Pro) n.2707A>C | |
| 4 | g.5618543G>A | CA356143225 | EVC2 | c.2641C>T (p.Gln881Ter) c.2401C>T (p.Gln801Ter) c.*1034C>T (n.*1034C>T) c.2650C>T (p.Gln884Ter) c.2410C>T (p.Gln804Ter) c.961C>T (p.Gln321Ter) n.2706C>T | gnomAD v4 |
| 4 | g.5618543G>C | CA356143227 | EVC2 | c.2641C>G (p.Gln881Glu) c.2401C>G (p.Gln801Glu) c.*1034C>G (n.*1034C>G) c.2650C>G (p.Gln884Glu) c.2410C>G (p.Gln804Glu) c.961C>G (p.Gln321Glu) n.2706C>G | |
| 4 | g.5618543G>T | CA356143228 | EVC2 | c.2641C>A (p.Gln881Lys) c.2401C>A (p.Gln801Lys) c.*1034C>A (n.*1034C>A) c.2650C>A (p.Gln884Lys) c.2410C>A (p.Gln804Lys) c.961C>A (p.Gln321Lys) n.2706C>A | |
| 4 | g.5618544A= | CA1435421589 | EVC2 | c.2640T= (p.Phe880=) c.2400T= (p.Phe800=) c.*1033T= (n.*1033T=) c.2649T= (p.Phe883=) c.2409T= (p.Phe803=) c.960T= (p.Phe320=) n.2705T= | |
| 4 | g.5618544A>C | CA356143231 | EVC2 | c.2640T>G (p.Phe880Leu) c.2400T>G (p.Phe800Leu) c.*1033T>G (n.*1033T>G) c.2649T>G (p.Phe883Leu) c.2409T>G (p.Phe803Leu) c.960T>G (p.Phe320Leu) n.2705T>G | gnomAD v4 |
| 4 | g.5618544A>G | CA438203808 | EVC2 | c.2640T>C (p.Phe880=) c.2400T>C (p.Phe800=) c.*1033T>C (n.*1033T>C) c.2649T>C (p.Phe883=) c.2409T>C (p.Phe803=) c.960T>C (p.Phe320=) n.2705T>C | |
| 4 | g.5618544A>T | CA356143234 | EVC2 | c.2640T>A (p.Phe880Leu) c.2400T>A (p.Phe800Leu) c.*1033T>A (n.*1033T>A) c.2649T>A (p.Phe883Leu) c.2409T>A (p.Phe803Leu) c.960T>A (p.Phe320Leu) n.2705T>A | dbSNP |
| 4 | g.5618545A>C | CA356143242 | EVC2 | c.2639T>G (p.Phe880Cys) c.2399T>G (p.Phe800Cys) c.*1032T>G (n.*1032T>G) c.2648T>G (p.Phe883Cys) c.2408T>G (p.Phe803Cys) c.959T>G (p.Phe320Cys) n.2704T>G | |
| 4 | g.5618545A>G | CA356143243 | EVC2 | c.2639T>C (p.Phe880Ser) c.2399T>C (p.Phe800Ser) c.*1032T>C (n.*1032T>C) c.2648T>C (p.Phe883Ser) c.2408T>C (p.Phe803Ser) c.959T>C (p.Phe320Ser) n.2704T>C | |
| 4 | g.5618545A>T | CA356143244 | EVC2 | c.2639T>A (p.Phe880Tyr) c.2399T>A (p.Phe800Tyr) c.*1032T>A (n.*1032T>A) c.2648T>A (p.Phe883Tyr) c.2408T>A (p.Phe803Tyr) c.959T>A (p.Phe320Tyr) n.2704T>A | |
| 4 | g.5618546A>C | CA356143245 | EVC2 | c.2638T>G (p.Phe880Val) c.2398T>G (p.Phe800Val) c.*1031T>G (n.*1031T>G) c.2647T>G (p.Phe883Val) c.2407T>G (p.Phe803Val) c.958T>G (p.Phe320Val) n.2703T>G | |
| 4 | g.5618546A>G | CA356143246 | EVC2 | c.2638T>C (p.Phe880Leu) c.2398T>C (p.Phe800Leu) c.*1031T>C (n.*1031T>C) c.2647T>C (p.Phe883Leu) c.2407T>C (p.Phe803Leu) c.958T>C (p.Phe320Leu) n.2703T>C | |
| 4 | g.5618546A>T | CA356143247 | EVC2 | c.2638T>A (p.Phe880Ile) c.2398T>A (p.Phe800Ile) c.*1031T>A (n.*1031T>A) c.2647T>A (p.Phe883Ile) c.2407T>A (p.Phe803Ile) c.958T>A (p.Phe320Ile) n.2703T>A | |
| 4 | g.5618546_5618547dup | CA2573138249 | EVC2 | c.2637_2638dup (p.Phe880TyrfsTer12) c.2397_2398dup (p.Phe800TyrfsTer12) c.*1030_*1031dup (n.*1030_*1031dup) c.2646_2647dup (p.Phe883TyrfsTer12) c.2406_2407dup (p.Phe803TyrfsTer12) c.957_958dup (p.Phe320TyrfsTer12) n.2702_2703dup | ClinVar dbSNP |
| 4 | g.5618547T>A | CA356143248 | EVC2 | c.2637A>T (p.Gln879His) c.2397A>T (p.Gln799His) c.*1030A>T (n.*1030A>T) c.2646A>T (p.Gln882His) c.2406A>T (p.Gln802His) c.957A>T (p.Gln319His) n.2702A>T | |
| 4 | g.5618547T>C | CA2834644 | EVC2 | c.2637A>G (p.Gln879=) c.2397A>G (p.Gln799=) c.*1030A>G (n.*1030A>G) c.2646A>G (p.Gln882=) c.2406A>G (p.Gln802=) c.957A>G (p.Gln319=) n.2702A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618547T>G | CA356143249 | EVC2 | c.2637A>C (p.Gln879His) c.2397A>C (p.Gln799His) c.*1030A>C (n.*1030A>C) c.2646A>C (p.Gln882His) c.2406A>C (p.Gln802His) c.957A>C (p.Gln319His) n.2702A>C | |
| 4 | g.5618547T= | CA1435421594 | EVC2 | c.2637A= (p.Gln879=) c.2397A= (p.Gln799=) c.*1030A= (n.*1030A=) c.2646A= (p.Gln882=) c.2406A= (p.Gln802=) c.957A= (p.Gln319=) n.2702A= | |
| 4 | g.5618547_5618548del | CA2544572784 | EVC2 | c.2636_2637del (p.Gln879LeufsTer21) c.2396_2397del (p.Gln799LeufsTer21) c.*1029_*1030del (n.*1029_*1030del) c.2645_2646del (p.Gln882LeufsTer21) c.2405_2406del (p.Gln802LeufsTer21) c.956_957del (p.Gln319LeufsTer21) n.2701_2702del | |
| 4 | g.5618548T>A | CA356143250 | EVC2 | c.2636A>T (p.Gln879Leu) c.2396A>T (p.Gln799Leu) c.*1029A>T (n.*1029A>T) c.2645A>T (p.Gln882Leu) c.2405A>T (p.Gln802Leu) c.956A>T (p.Gln319Leu) n.2701A>T | |
| 4 | g.5618548T>C | CA356143251 | EVC2 | c.2636A>G (p.Gln879Arg) c.2396A>G (p.Gln799Arg) c.*1029A>G (n.*1029A>G) c.2645A>G (p.Gln882Arg) c.2405A>G (p.Gln802Arg) c.956A>G (p.Gln319Arg) n.2701A>G |