Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.5618531G>A | CA213036 | EVC2 | c.2653C>T (p.Arg885Ter) c.2413C>T (p.Arg805Ter) c.*1046C>T (n.*1046C>T) c.2662C>T (p.Arg888Ter) c.2422C>T (p.Arg808Ter) c.973C>T (p.Arg325Ter) n.2718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.5618531G>C | CA356143139 | EVC2 | c.2653C>G (p.Arg885Gly) c.2413C>G (p.Arg805Gly) c.*1046C>G (n.*1046C>G) c.2662C>G (p.Arg888Gly) c.2422C>G (p.Arg808Gly) c.973C>G (p.Arg325Gly) n.2718C>G | |
4 | g.5618531G= | CA1435421541 | EVC2 | c.2653C= (p.Arg885=) c.2413C= (p.Arg805=) c.*1046C= (n.*1046C=) c.2662C= (p.Arg888=) c.2422C= (p.Arg808=) c.973C= (p.Arg325=) n.2718C= | |
4 | g.5618531G>T | CA438203802 | EVC2 | c.2653C>A (p.Arg885=) c.2413C>A (p.Arg805=) c.*1046C>A (n.*1046C>A) c.2662C>A (p.Arg888=) c.2422C>A (p.Arg808=) c.973C>A (p.Arg325=) n.2718C>A | |
4 | g.5618532C>A | CA356143148 | EVC2 | c.2652G>T (p.Trp884Cys) c.2412G>T (p.Trp804Cys) c.*1045G>T (n.*1045G>T) c.2661G>T (p.Trp887Cys) c.2421G>T (p.Trp807Cys) c.972G>T (p.Trp324Cys) n.2717G>T | |
4 | g.5618532C= | CA1435421552 | EVC2 | c.2652G= (p.Trp884=) c.2412G= (p.Trp804=) c.*1045G= (n.*1045G=) c.2661G= (p.Trp887=) c.2421G= (p.Trp807=) c.972G= (p.Trp324=) n.2717G= | |
4 | g.5618532C>G | CA356143141 | EVC2 | c.2652G>C (p.Trp884Cys) c.2412G>C (p.Trp804Cys) c.*1045G>C (n.*1045G>C) c.2661G>C (p.Trp887Cys) c.2421G>C (p.Trp807Cys) c.972G>C (p.Trp324Cys) n.2717G>C | |
4 | g.5618532C>T | CA91696925 | EVC2 | c.2652G>A (p.Trp884Ter) c.2412G>A (p.Trp804Ter) c.*1045G>A (n.*1045G>A) c.2661G>A (p.Trp887Ter) c.2421G>A (p.Trp807Ter) c.972G>A (p.Trp324Ter) n.2717G>A | ClinVar dbSNP gnomAD v4 |
4 | g.5618533C>A | CA356143149 | EVC2 | c.2651G>T (p.Trp884Leu) c.2411G>T (p.Trp804Leu) c.*1044G>T (n.*1044G>T) c.2660G>T (p.Trp887Leu) c.2420G>T (p.Trp807Leu) c.971G>T (p.Trp324Leu) n.2716G>T | |
4 | g.5618533C>G | CA356143150 | EVC2 | c.2651G>C (p.Trp884Ser) c.2411G>C (p.Trp804Ser) c.*1044G>C (n.*1044G>C) c.2660G>C (p.Trp887Ser) c.2420G>C (p.Trp807Ser) c.971G>C (p.Trp324Ser) n.2716G>C | |
4 | g.5618533C>T | CA356143151 | EVC2 | c.2651G>A (p.Trp884Ter) c.2411G>A (p.Trp804Ter) c.*1044G>A (n.*1044G>A) c.2660G>A (p.Trp887Ter) c.2420G>A (p.Trp807Ter) c.971G>A (p.Trp324Ter) n.2716G>A | |
4 | g.5618534A>C | CA356143152 | EVC2 | c.2650T>G (p.Trp884Gly) c.2410T>G (p.Trp804Gly) c.*1043T>G (n.*1043T>G) c.2659T>G (p.Trp887Gly) c.2419T>G (p.Trp807Gly) c.970T>G (p.Trp324Gly) n.2715T>G | |
4 | g.5618534A>G | CA356143153 | EVC2 | c.2650T>C (p.Trp884Arg) c.2410T>C (p.Trp804Arg) c.*1043T>C (n.*1043T>C) c.2659T>C (p.Trp887Arg) c.2419T>C (p.Trp807Arg) c.970T>C (p.Trp324Arg) n.2715T>C | gnomAD v4 |
4 | g.5618534A>T | CA356143155 | EVC2 | c.2650T>A (p.Trp884Arg) c.2410T>A (p.Trp804Arg) c.*1043T>A (n.*1043T>A) c.2659T>A (p.Trp887Arg) c.2419T>A (p.Trp807Arg) c.970T>A (p.Trp324Arg) n.2715T>A | gnomAD v4 |
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 |