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 |
|---|---|---|---|---|---|
| 4 | g.5618551_5618553del | CA2669800459 | EVC2 | c.2634_2636del (p.Gln879del) c.2394_2396del (p.Gln799del) c.*1027_*1029del (n.*1027_*1029del) c.2643_2645del (p.Gln882del) c.2403_2405del (p.Gln802del) c.954_956del (p.Gln319del) n.2699_2701del | gnomAD v4 |
| 4 | g.5618549_5618620dup | CA2669800460 | EVC2 | c.2564_2635dup (p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln) c.2324_2395dup (p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln) c.*957_*1028dup (n.*957_*1028dup) c.2573_2644dup (p.Gln881_Gln882insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln) c.2333_2404dup (p.Gln801_Gln802insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln) c.884_955dup (p.Gln318_Gln319insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln) n.2629_2700dup | gnomAD v4 |
| 4 | g.5618552G>A | CA356143265 | EVC2 | c.2632C>T (p.Gln878Ter) c.2392C>T (p.Gln798Ter) c.*1025C>T (n.*1025C>T) c.2641C>T (p.Gln881Ter) c.2401C>T (p.Gln801Ter) c.952C>T (p.Gln318Ter) n.2697C>T | ClinVar gnomAD v4 |
| 4 | g.5618552G>C | CA356143266 | EVC2 | c.2632C>G (p.Gln878Glu) c.2392C>G (p.Gln798Glu) c.*1025C>G (n.*1025C>G) c.2641C>G (p.Gln881Glu) c.2401C>G (p.Gln801Glu) c.952C>G (p.Gln318Glu) n.2697C>G | |
| 4 | g.5618552G>T | CA356143271 | EVC2 | c.2632C>A (p.Gln878Lys) c.2392C>A (p.Gln798Lys) c.*1025C>A (n.*1025C>A) c.2641C>A (p.Gln881Lys) c.2401C>A (p.Gln801Lys) c.952C>A (p.Gln318Lys) n.2697C>A | gnomAD v4 |
| 4 | g.5618553C>A | CA438203812 | EVC2 | c.2631G>T (p.Leu877=) c.2391G>T (p.Leu797=) c.*1024G>T (n.*1024G>T) c.2640G>T (p.Leu880=) c.2400G>T (p.Leu800=) c.951G>T (p.Leu317=) n.2696G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.5618553C>G | CA438203810 | EVC2 | c.2631G>C (p.Leu877=) c.2391G>C (p.Leu797=) c.*1024G>C (n.*1024G>C) c.2640G>C (p.Leu880=) c.2400G>C (p.Leu800=) c.951G>C (p.Leu317=) n.2696G>C | |
| 4 | g.5618553C>T | CA438203811 | EVC2 | c.2631G>A (p.Leu877=) c.2391G>A (p.Leu797=) c.*1024G>A (n.*1024G>A) c.2640G>A (p.Leu880=) c.2400G>A (p.Leu800=) c.951G>A (p.Leu317=) n.2696G>A | gnomAD v4 |
| 4 | g.5618554A>C | CA356143272 | EVC2 | c.2630T>G (p.Leu877Arg) c.2390T>G (p.Leu797Arg) c.*1023T>G (n.*1023T>G) c.2639T>G (p.Leu880Arg) c.2399T>G (p.Leu800Arg) c.950T>G (p.Leu317Arg) n.2695T>G | |
| 4 | g.5618554A>G | CA356143273 | EVC2 | c.2630T>C (p.Leu877Pro) c.2390T>C (p.Leu797Pro) c.*1023T>C (n.*1023T>C) c.2639T>C (p.Leu880Pro) c.2399T>C (p.Leu800Pro) c.950T>C (p.Leu317Pro) n.2695T>C | |
| 4 | g.5618554A>T | CA356143276 | EVC2 | c.2630T>A (p.Leu877Gln) c.2390T>A (p.Leu797Gln) c.*1023T>A (n.*1023T>A) c.2639T>A (p.Leu880Gln) c.2399T>A (p.Leu800Gln) c.950T>A (p.Leu317Gln) n.2695T>A | |
| 4 | g.5618555G>A | CA438203813 | EVC2 | c.2629C>T (p.Leu877=) c.2389C>T (p.Leu797=) c.*1022C>T (n.*1022C>T) c.2638C>T (p.Leu880=) c.2398C>T (p.Leu800=) c.949C>T (p.Leu317=) n.2694C>T | |
| 4 | g.5618555G>C | CA356143277 | EVC2 | c.2629C>G (p.Leu877Val) c.2389C>G (p.Leu797Val) c.*1022C>G (n.*1022C>G) c.2638C>G (p.Leu880Val) c.2398C>G (p.Leu800Val) c.949C>G (p.Leu317Val) n.2694C>G | |
| 4 | g.5618555G>T | CA356143279 | EVC2 | c.2629C>A (p.Leu877Met) c.2389C>A (p.Leu797Met) c.*1022C>A (n.*1022C>A) c.2638C>A (p.Leu880Met) c.2398C>A (p.Leu800Met) c.949C>A (p.Leu317Met) n.2694C>A | |
| 4 | g.5618557_5618567del | CA2740091124 | EVC2 | c.2619_2629del (p.Arg874AlafsTer23) c.2379_2389del (p.Arg794AlafsTer23) c.*1012_*1022del (n.*1012_*1022del) c.2628_2638del (p.Arg877AlafsTer23) c.2388_2398del (p.Arg797AlafsTer23) c.939_949del (p.Arg314AlafsTer23) n.2684_2694del | ClinVar |
| 4 | g.5618556C>A | CA438203814 | EVC2 | c.2628G>T (p.Leu876=) c.2388G>T (p.Leu796=) c.*1021G>T (n.*1021G>T) c.2637G>T (p.Leu879=) c.2397G>T (p.Leu799=) c.948G>T (p.Leu316=) n.2693G>T | |
| 4 | g.5618556C= | CA1435421604 | EVC2 | c.2628G= (p.Leu876=) c.2388G= (p.Leu796=) c.*1021G= (n.*1021G=) c.2637G= (p.Leu879=) c.2397G= (p.Leu799=) c.948G= (p.Leu316=) n.2693G= | |
| 4 | g.5618556C>G | CA438203815 | EVC2 | c.2628G>C (p.Leu876=) c.2388G>C (p.Leu796=) c.*1021G>C (n.*1021G>C) c.2637G>C (p.Leu879=) c.2397G>C (p.Leu799=) c.948G>C (p.Leu316=) n.2693G>C | |
| 4 | g.5618556C>T | CA438203816 | EVC2 | c.2628G>A (p.Leu876=) c.2388G>A (p.Leu796=) c.*1021G>A (n.*1021G>A) c.2637G>A (p.Leu879=) c.2397G>A (p.Leu799=) c.948G>A (p.Leu316=) n.2693G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618557A>C | CA356143287 | EVC2 | c.2627T>G (p.Leu876Arg) c.2387T>G (p.Leu796Arg) c.*1020T>G (n.*1020T>G) c.2636T>G (p.Leu879Arg) c.2396T>G (p.Leu799Arg) c.947T>G (p.Leu316Arg) n.2692T>G | |
| 4 | g.5618557A>G | CA356143285 | EVC2 | c.2627T>C (p.Leu876Pro) c.2387T>C (p.Leu796Pro) c.*1020T>C (n.*1020T>C) c.2636T>C (p.Leu879Pro) c.2396T>C (p.Leu799Pro) c.947T>C (p.Leu316Pro) n.2692T>C | |
| 4 | g.5618557A>T | CA356143282 | EVC2 | c.2627T>A (p.Leu876Gln) c.2387T>A (p.Leu796Gln) c.*1020T>A (n.*1020T>A) c.2636T>A (p.Leu879Gln) c.2396T>A (p.Leu799Gln) c.947T>A (p.Leu316Gln) n.2692T>A | |
| 4 | g.5618558G>A | CA438203817 | EVC2 | c.2626C>T (p.Leu876=) c.2386C>T (p.Leu796=) c.*1019C>T (n.*1019C>T) c.2635C>T (p.Leu879=) c.2395C>T (p.Leu799=) c.946C>T (p.Leu316=) n.2691C>T | gnomAD v4 |
| 4 | g.5618558G>C | CA356143290 | EVC2 | c.2626C>G (p.Leu876Val) c.2386C>G (p.Leu796Val) c.*1019C>G (n.*1019C>G) c.2635C>G (p.Leu879Val) c.2395C>G (p.Leu799Val) c.946C>G (p.Leu316Val) n.2691C>G | gnomAD v3 gnomAD v4 |
| 4 | g.5618558G>T | CA356143293 | EVC2 | c.2626C>A (p.Leu876Met) c.2386C>A (p.Leu796Met) c.*1019C>A (n.*1019C>A) c.2635C>A (p.Leu879Met) c.2395C>A (p.Leu799Met) c.946C>A (p.Leu316Met) n.2691C>A | |
| 4 | g.5618559A>C | CA438203818 | EVC2 | c.2625T>G (p.Val875=) c.2385T>G (p.Val795=) c.*1018T>G (n.*1018T>G) c.2634T>G (p.Val878=) c.2394T>G (p.Val798=) c.945T>G (p.Val315=) n.2690T>G | gnomAD v4 |
| 4 | g.5618559A>G | CA438203819 | EVC2 | c.2625T>C (p.Val875=) c.2385T>C (p.Val795=) c.*1018T>C (n.*1018T>C) c.2634T>C (p.Val878=) c.2394T>C (p.Val798=) c.945T>C (p.Val315=) n.2690T>C | |
| 4 | g.5618559A>T | CA438203820 | EVC2 | c.2625T>A (p.Val875=) c.2385T>A (p.Val795=) c.*1018T>A (n.*1018T>A) c.2634T>A (p.Val878=) c.2394T>A (p.Val798=) c.945T>A (p.Val315=) n.2690T>A | |
| 4 | g.5618560A>C | CA356143295 | EVC2 | c.2624T>G (p.Val875Gly) c.2384T>G (p.Val795Gly) c.*1017T>G (n.*1017T>G) c.2633T>G (p.Val878Gly) c.2393T>G (p.Val798Gly) c.944T>G (p.Val315Gly) n.2689T>G | |
| 4 | g.5618560A>G | CA356143296 | EVC2 | c.2624T>C (p.Val875Ala) c.2384T>C (p.Val795Ala) c.*1017T>C (n.*1017T>C) c.2633T>C (p.Val878Ala) c.2393T>C (p.Val798Ala) c.944T>C (p.Val315Ala) n.2689T>C | |
| 4 | g.5618560A>T | CA356143298 | EVC2 | c.2624T>A (p.Val875Asp) c.2384T>A (p.Val795Asp) c.*1017T>A (n.*1017T>A) c.2633T>A (p.Val878Asp) c.2393T>A (p.Val798Asp) c.944T>A (p.Val315Asp) n.2689T>A | gnomAD v4 |
| 4 | g.5618561C>A | CA356143301 | EVC2 | c.2623G>T (p.Val875Phe) c.2383G>T (p.Val795Phe) c.*1016G>T (n.*1016G>T) c.2632G>T (p.Val878Phe) c.2392G>T (p.Val798Phe) c.943G>T (p.Val315Phe) n.2688G>T | |
| 4 | g.5618561C= | CA1435421608 | EVC2 | c.2623G= (p.Val875=) c.2383G= (p.Val795=) c.*1016G= (n.*1016G=) c.2632G= (p.Val878=) c.2392G= (p.Val798=) c.943G= (p.Val315=) n.2688G= | |
| 4 | g.5618561C>G | CA356143302 | EVC2 | c.2623G>C (p.Val875Leu) c.2383G>C (p.Val795Leu) c.*1016G>C (n.*1016G>C) c.2632G>C (p.Val878Leu) c.2392G>C (p.Val798Leu) c.943G>C (p.Val315Leu) n.2688G>C | |
| 4 | g.5618561C>T | CA2834645 | EVC2 | c.2623G>A (p.Val875Ile) c.2383G>A (p.Val795Ile) c.*1016G>A (n.*1016G>A) c.2632G>A (p.Val878Ile) c.2392G>A (p.Val798Ile) c.943G>A (p.Val315Ile) n.2688G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618562T>A | CA438203821 | EVC2 | c.2622A>T (p.Arg874=) c.2382A>T (p.Arg794=) c.*1015A>T (n.*1015A>T) c.2631A>T (p.Arg877=) c.2391A>T (p.Arg797=) c.942A>T (p.Arg314=) n.2687A>T | |
| 4 | g.5618562T>C | CA438203822 | EVC2 | c.2622A>G (p.Arg874=) c.2382A>G (p.Arg794=) c.*1015A>G (n.*1015A>G) c.2631A>G (p.Arg877=) c.2391A>G (p.Arg797=) c.942A>G (p.Arg314=) n.2687A>G | |
| 4 | g.5618562T>G | CA438203823 | EVC2 | c.2622A>C (p.Arg874=) c.2382A>C (p.Arg794=) c.*1015A>C (n.*1015A>C) c.2631A>C (p.Arg877=) c.2391A>C (p.Arg797=) c.942A>C (p.Arg314=) n.2687A>C | |
| 4 | g.5618563C>A | CA356143303 | EVC2 | c.2621G>T (p.Arg874Leu) c.2381G>T (p.Arg794Leu) c.*1014G>T (n.*1014G>T) c.2630G>T (p.Arg877Leu) c.2390G>T (p.Arg797Leu) c.941G>T (p.Arg314Leu) n.2686G>T | |
| 4 | g.5618563C= | CA1435421616 | EVC2 | c.2621G= (p.Arg874=) c.2381G= (p.Arg794=) c.*1014G= (n.*1014G=) c.2630G= (p.Arg877=) c.2390G= (p.Arg797=) c.941G= (p.Arg314=) n.2686G= | |
| 4 | g.5618563C>G | CA356143308 | EVC2 | c.2621G>C (p.Arg874Pro) c.2381G>C (p.Arg794Pro) c.*1014G>C (n.*1014G>C) c.2630G>C (p.Arg877Pro) c.2390G>C (p.Arg797Pro) c.941G>C (p.Arg314Pro) n.2686G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618563C>T | CA2834646 | EVC2 | c.2621G>A (p.Arg874Gln) c.2381G>A (p.Arg794Gln) c.*1014G>A (n.*1014G>A) c.2630G>A (p.Arg877Gln) c.2390G>A (p.Arg797Gln) c.941G>A (p.Arg314Gln) n.2686G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618564G>A | CA2834648 | EVC2 | c.2620C>T (p.Arg874Ter) c.2380C>T (p.Arg794Ter) c.*1013C>T (n.*1013C>T) c.2629C>T (p.Arg877Ter) c.2389C>T (p.Arg797Ter) c.940C>T (p.Arg314Ter) n.2685C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618564G>C | CA356143314 | EVC2 | c.2620C>G (p.Arg874Gly) c.2380C>G (p.Arg794Gly) c.*1013C>G (n.*1013C>G) c.2629C>G (p.Arg877Gly) c.2389C>G (p.Arg797Gly) c.940C>G (p.Arg314Gly) n.2685C>G | |
| 4 | g.5618564G= | CA1435421627 | EVC2 | c.2620C= (p.Arg874=) c.2380C= (p.Arg794=) c.*1013C= (n.*1013C=) c.2629C= (p.Arg877=) c.2389C= (p.Arg797=) c.940C= (p.Arg314=) n.2685C= | |
| 4 | g.5618564G>T | CA438203824 | EVC2 | c.2620C>A (p.Arg874=) c.2380C>A (p.Arg794=) c.*1013C>A (n.*1013C>A) c.2629C>A (p.Arg877=) c.2389C>A (p.Arg797=) c.940C>A (p.Arg314=) n.2685C>A | ClinVar dbSNP |
| 4 | g.5618566dup | CA2834647 | EVC2 | c.2620dup (p.Arg874ProfsTer27) c.2380dup (p.Arg794ProfsTer27) c.*1013dup (n.*1013dup) c.2629dup (p.Arg877ProfsTer27) c.2389dup (p.Arg797ProfsTer27) c.940dup (p.Arg314ProfsTer27) n.2685dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618565G>A | CA438203825 | EVC2 | c.2619C>T (p.Ala873=) c.2379C>T (p.Ala793=) c.*1012C>T (n.*1012C>T) c.2628C>T (p.Ala876=) c.2388C>T (p.Ala796=) c.939C>T (p.Ala313=) n.2684C>T | ClinVar |
| 4 | g.5618565G>C | CA438203826 | EVC2 | c.2619C>G (p.Ala873=) c.2379C>G (p.Ala793=) c.*1012C>G (n.*1012C>G) c.2628C>G (p.Ala876=) c.2388C>G (p.Ala796=) c.939C>G (p.Ala313=) n.2684C>G | ClinVar |
| 4 | g.5618565G>T | CA438203827 | EVC2 | c.2619C>A (p.Ala873=) c.2379C>A (p.Ala793=) c.*1012C>A (n.*1012C>A) c.2628C>A (p.Ala876=) c.2388C>A (p.Ala796=) c.939C>A (p.Ala313=) n.2684C>A | |
| 4 | g.5618566G>A | CA356143321 | EVC2 | c.2618C>T (p.Ala873Val) c.2378C>T (p.Ala793Val) c.*1011C>T (n.*1011C>T) c.2627C>T (p.Ala876Val) c.2387C>T (p.Ala796Val) c.938C>T (p.Ala313Val) n.2683C>T | |
| 4 | g.5618566G>C | CA356143319 | EVC2 | c.2618C>G (p.Ala873Gly) c.2378C>G (p.Ala793Gly) c.*1011C>G (n.*1011C>G) c.2627C>G (p.Ala876Gly) c.2387C>G (p.Ala796Gly) c.938C>G (p.Ala313Gly) n.2683C>G | |
| 4 | g.5618566G>T | CA356143316 | EVC2 | c.2618C>A (p.Ala873Asp) c.2378C>A (p.Ala793Asp) c.*1011C>A (n.*1011C>A) c.2627C>A (p.Ala876Asp) c.2387C>A (p.Ala796Asp) c.938C>A (p.Ala313Asp) n.2683C>A | |
| 4 | g.5618567C>A | CA356143323 | EVC2 | c.2617G>T (p.Ala873Ser) c.2377G>T (p.Ala793Ser) c.*1010G>T (n.*1010G>T) c.2626G>T (p.Ala876Ser) c.2386G>T (p.Ala796Ser) c.937G>T (p.Ala313Ser) n.2682G>T | dbSNP |
| 4 | g.5618567C= | CA1435421637 | EVC2 | c.2617G= (p.Ala873=) c.2377G= (p.Ala793=) c.*1010G= (n.*1010G=) c.2626G= (p.Ala876=) c.2386G= (p.Ala796=) c.937G= (p.Ala313=) n.2682G= | |
| 4 | g.5618567C>G | CA356143325 | EVC2 | c.2617G>C (p.Ala873Pro) c.2377G>C (p.Ala793Pro) c.*1010G>C (n.*1010G>C) c.2626G>C (p.Ala876Pro) c.2386G>C (p.Ala796Pro) c.937G>C (p.Ala313Pro) n.2682G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618567C>T | CA356143326 | EVC2 | c.2617G>A (p.Ala873Thr) c.2377G>A (p.Ala793Thr) c.*1010G>A (n.*1010G>A) c.2626G>A (p.Ala876Thr) c.2386G>A (p.Ala796Thr) c.937G>A (p.Ala313Thr) n.2682G>A | |
| 4 | g.5618568C>A | CA438203828 | EVC2 | c.2616G>T (p.Arg872=) c.2376G>T (p.Arg792=) c.*1009G>T (n.*1009G>T) c.2625G>T (p.Arg875=) c.2385G>T (p.Arg795=) c.936G>T (p.Arg312=) n.2681G>T | COSMIC COSMIC |
| 4 | g.5618568C= | CA1435421641 | EVC2 | c.2616G= (p.Arg872=) c.2376G= (p.Arg792=) c.*1009G= (n.*1009G=) c.2625G= (p.Arg875=) c.2385G= (p.Arg795=) c.936G= (p.Arg312=) n.2681G= | |
| 4 | g.5618568C>G | CA438203829 | EVC2 | c.2616G>C (p.Arg872=) c.2376G>C (p.Arg792=) c.*1009G>C (n.*1009G>C) c.2625G>C (p.Arg875=) c.2385G>C (p.Arg795=) c.936G>C (p.Arg312=) n.2681G>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.5618568C>T | CA438203830 | EVC2 | c.2616G>A (p.Arg872=) c.2376G>A (p.Arg792=) c.*1009G>A (n.*1009G>A) c.2625G>A (p.Arg875=) c.2385G>A (p.Arg795=) c.936G>A (p.Arg312=) n.2681G>A | |
| 4 | g.5618569C>A | CA356143329 | EVC2 | c.2615G>T (p.Arg872Leu) c.2375G>T (p.Arg792Leu) c.*1008G>T (n.*1008G>T) c.2624G>T (p.Arg875Leu) c.2384G>T (p.Arg795Leu) c.935G>T (p.Arg312Leu) n.2680G>T | gnomAD v4 |
| 4 | g.5618569C= | CA1435421647 | EVC2 | c.2615G= (p.Arg872=) c.2375G= (p.Arg792=) c.*1008G= (n.*1008G=) c.2624G= (p.Arg875=) c.2384G= (p.Arg795=) c.935G= (p.Arg312=) n.2680G= | |
| 4 | g.5618569C>G | CA356143331 | EVC2 | c.2615G>C (p.Arg872Pro) c.2375G>C (p.Arg792Pro) c.*1008G>C (n.*1008G>C) c.2624G>C (p.Arg875Pro) c.2384G>C (p.Arg795Pro) c.935G>C (p.Arg312Pro) n.2680G>C | |
| 4 | g.5618569C>T | CA2834649 | EVC2 | c.2615G>A (p.Arg872Gln) c.2375G>A (p.Arg792Gln) c.*1008G>A (n.*1008G>A) c.2624G>A (p.Arg875Gln) c.2384G>A (p.Arg795Gln) c.935G>A (p.Arg312Gln) n.2680G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618570G>A | CA2834650 | EVC2 | c.2614C>T (p.Arg872Trp) c.2374C>T (p.Arg792Trp) c.*1007C>T (n.*1007C>T) c.2623C>T (p.Arg875Trp) c.2383C>T (p.Arg795Trp) c.934C>T (p.Arg312Trp) n.2679C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618570G>C | CA356143337 | EVC2 | c.2614C>G (p.Arg872Gly) c.2374C>G (p.Arg792Gly) c.*1007C>G (n.*1007C>G) c.2623C>G (p.Arg875Gly) c.2383C>G (p.Arg795Gly) c.934C>G (p.Arg312Gly) n.2679C>G | |
| 4 | g.5618570G= | CA1435421649 | EVC2 | c.2614C= (p.Arg872=) c.2374C= (p.Arg792=) c.*1007C= (n.*1007C=) c.2623C= (p.Arg875=) c.2383C= (p.Arg795=) c.934C= (p.Arg312=) n.2679C= | |
| 4 | g.5618570G>T | CA438203831 | EVC2 | c.2614C>A (p.Arg872=) c.2374C>A (p.Arg792=) c.*1007C>A (n.*1007C>A) c.2623C>A (p.Arg875=) c.2383C>A (p.Arg795=) c.934C>A (p.Arg312=) n.2679C>A | ClinVar |
| 4 | g.5618571G>A | CA2834651 | EVC2 | c.2613C>T (p.Ile871=) c.2373C>T (p.Ile791=) c.*1006C>T (n.*1006C>T) c.2622C>T (p.Ile874=) c.2382C>T (p.Ile794=) c.933C>T (p.Ile311=) n.2678C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.5618571G>C | CA356143341 | EVC2 | c.2613C>G (p.Ile871Met) c.2373C>G (p.Ile791Met) c.*1006C>G (n.*1006C>G) c.2622C>G (p.Ile874Met) c.2382C>G (p.Ile794Met) c.933C>G (p.Ile311Met) n.2678C>G | |
| 4 | g.5618571G= | CA1435421653 | EVC2 | c.2613C= (p.Ile871=) c.2373C= (p.Ile791=) c.*1006C= (n.*1006C=) c.2622C= (p.Ile874=) c.2382C= (p.Ile794=) c.933C= (p.Ile311=) n.2678C= | |
| 4 | g.5618571G>T | CA438203832 | EVC2 | c.2613C>A (p.Ile871=) c.2373C>A (p.Ile791=) c.*1006C>A (n.*1006C>A) c.2622C>A (p.Ile874=) c.2382C>A (p.Ile794=) c.933C>A (p.Ile311=) n.2678C>A | |
| 4 | g.5618572A>C | CA356143344 | EVC2 | c.2612T>G (p.Ile871Ser) c.2372T>G (p.Ile791Ser) c.*1005T>G (n.*1005T>G) c.2621T>G (p.Ile874Ser) c.2381T>G (p.Ile794Ser) c.932T>G (p.Ile311Ser) n.2677T>G | |
| 4 | g.5618572A>G | CA356143345 | EVC2 | c.2612T>C (p.Ile871Thr) c.2372T>C (p.Ile791Thr) c.*1005T>C (n.*1005T>C) c.2621T>C (p.Ile874Thr) c.2381T>C (p.Ile794Thr) c.932T>C (p.Ile311Thr) n.2677T>C | |
| 4 | g.5618572A>T | CA356143347 | EVC2 | c.2612T>A (p.Ile871Asn) c.2372T>A (p.Ile791Asn) c.*1005T>A (n.*1005T>A) c.2621T>A (p.Ile874Asn) c.2381T>A (p.Ile794Asn) c.932T>A (p.Ile311Asn) n.2677T>A | |
| 4 | g.5618573T>A | CA356143354 | EVC2 | c.2611A>T (p.Ile871Phe) c.2371A>T (p.Ile791Phe) c.*1004A>T (n.*1004A>T) c.2620A>T (p.Ile874Phe) c.2380A>T (p.Ile794Phe) c.931A>T (p.Ile311Phe) n.2676A>T | |
| 4 | g.5618573T>C | CA2834652 | EVC2 | c.2611A>G (p.Ile871Val) c.2371A>G (p.Ile791Val) c.*1004A>G (n.*1004A>G) c.2620A>G (p.Ile874Val) c.2380A>G (p.Ile794Val) c.931A>G (p.Ile311Val) n.2676A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618573T>G | CA356143351 | EVC2 | c.2611A>C (p.Ile871Leu) c.2371A>C (p.Ile791Leu) c.*1004A>C (n.*1004A>C) c.2620A>C (p.Ile874Leu) c.2380A>C (p.Ile794Leu) c.931A>C (p.Ile311Leu) n.2676A>C | |
| 4 | g.5618573T= | CA1435421657 | EVC2 | c.2611A= (p.Ile871=) c.2371A= (p.Ile791=) c.*1004A= (n.*1004A=) c.2620A= (p.Ile874=) c.2380A= (p.Ile794=) c.931A= (p.Ile311=) n.2676A= | |
| 4 | g.5618574C>A | CA356143355 | EVC2 | c.2610G>T (p.Lys870Asn) c.2370G>T (p.Lys790Asn) c.*1003G>T (n.*1003G>T) c.2619G>T (p.Lys873Asn) c.2379G>T (p.Lys793Asn) c.930G>T (p.Lys310Asn) n.2675G>T | |
| 4 | g.5618574C>G | CA356143356 | EVC2 | c.2610G>C (p.Lys870Asn) c.2370G>C (p.Lys790Asn) c.*1003G>C (n.*1003G>C) c.2619G>C (p.Lys873Asn) c.2379G>C (p.Lys793Asn) c.930G>C (p.Lys310Asn) n.2675G>C | |
| 4 | g.5618574C>T | CA438203833 | EVC2 | c.2610G>A (p.Lys870=) c.2370G>A (p.Lys790=) c.*1003G>A (n.*1003G>A) c.2619G>A (p.Lys873=) c.2379G>A (p.Lys793=) c.930G>A (p.Lys310=) n.2675G>A | |
| 4 | g.5618575T>A | CA356143359 | EVC2 | c.2609A>T (p.Lys870Met) c.2369A>T (p.Lys790Met) c.*1002A>T (n.*1002A>T) c.2618A>T (p.Lys873Met) c.2378A>T (p.Lys793Met) c.929A>T (p.Lys310Met) n.2674A>T | |
| 4 | g.5618575T>C | CA91697047 | EVC2 | c.2609A>G (p.Lys870Arg) c.2369A>G (p.Lys790Arg) c.*1002A>G (n.*1002A>G) c.2618A>G (p.Lys873Arg) c.2378A>G (p.Lys793Arg) c.929A>G (p.Lys310Arg) n.2674A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618575T>G | CA356143361 | EVC2 | c.2609A>C (p.Lys870Thr) c.2369A>C (p.Lys790Thr) c.*1002A>C (n.*1002A>C) c.2618A>C (p.Lys873Thr) c.2378A>C (p.Lys793Thr) c.929A>C (p.Lys310Thr) n.2674A>C | |
| 4 | g.5618575T= | CA1435421662 | EVC2 | c.2609A= (p.Lys870=) c.2369A= (p.Lys790=) c.*1002A= (n.*1002A=) c.2618A= (p.Lys873=) c.2378A= (p.Lys793=) c.929A= (p.Lys310=) n.2674A= | |
| 4 | g.5618576T>A | CA356143363 | EVC2 | c.2608A>T (p.Lys870Ter) c.2368A>T (p.Lys790Ter) c.*1001A>T (n.*1001A>T) c.2617A>T (p.Lys873Ter) c.2377A>T (p.Lys793Ter) c.928A>T (p.Lys310Ter) n.2673A>T | |
| 4 | g.5618576T>C | CA356143365 | EVC2 | c.2608A>G (p.Lys870Glu) c.2368A>G (p.Lys790Glu) c.*1001A>G (n.*1001A>G) c.2617A>G (p.Lys873Glu) c.2377A>G (p.Lys793Glu) c.928A>G (p.Lys310Glu) n.2673A>G | |
| 4 | g.5618576T>G | CA356143367 | EVC2 | c.2608A>C (p.Lys870Gln) c.2368A>C (p.Lys790Gln) c.*1001A>C (n.*1001A>C) c.2617A>C (p.Lys873Gln) c.2377A>C (p.Lys793Gln) c.928A>C (p.Lys310Gln) n.2673A>C | |
| 4 | g.5618577G>A | CA438203834 | EVC2 | c.2607C>T (p.Pro869=) c.2367C>T (p.Pro789=) c.*1000C>T (n.*1000C>T) c.2616C>T (p.Pro872=) c.2376C>T (p.Pro792=) c.927C>T (p.Pro309=) n.2672C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618577G>C | CA2834653 | EVC2 | c.2607C>G (p.Pro869=) c.2367C>G (p.Pro789=) c.*1000C>G (n.*1000C>G) c.2616C>G (p.Pro872=) c.2376C>G (p.Pro792=) c.927C>G (p.Pro309=) n.2672C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618577G= | CA1435421666 | EVC2 | c.2607C= (p.Pro869=) c.2367C= (p.Pro789=) c.*1000C= (n.*1000C=) c.2616C= (p.Pro872=) c.2376C= (p.Pro792=) c.927C= (p.Pro309=) n.2672C= | |
| 4 | g.5618577G>T | CA438203835 | EVC2 | c.2607C>A (p.Pro869=) c.2367C>A (p.Pro789=) c.*1000C>A (n.*1000C>A) c.2616C>A (p.Pro872=) c.2376C>A (p.Pro792=) c.927C>A (p.Pro309=) n.2672C>A | |
| 4 | g.5618580dup | CA645523433 | EVC2 | c.2607dup (p.Lys870GlnfsTer?) c.2367dup (p.Lys790GlnfsTer?) c.*1000dup (n.*1000dup) c.2616dup (p.Lys873GlnfsTer?) c.2376dup (p.Lys793GlnfsTer?) c.927dup (p.Lys310GlnfsTer?) n.2672dup | COSMIC |
| 4 | g.5618577_5618578insC | CA438203836 | EVC2 | c.2606_2607insG (p.Lys870GlnfsTer?) c.2366_2367insG (p.Lys790GlnfsTer?) c.*999_*1000insG (n.*999_*1000insG) c.2615_2616insG (p.Lys873GlnfsTer?) c.2375_2376insG (p.Lys793GlnfsTer?) c.926_927insG (p.Lys310GlnfsTer?) n.2671_2672insG | |
| 4 | g.5618578G>A | CA2834654 | EVC2 | c.2606C>T (p.Pro869Leu) c.2366C>T (p.Pro789Leu) c.*999C>T (n.*999C>T) c.2615C>T (p.Pro872Leu) c.2375C>T (p.Pro792Leu) c.926C>T (p.Pro309Leu) n.2671C>T | dbSNP ExAC gnomAD v2 |
| 4 | g.5618578G>C | CA91697083 | EVC2 | c.2606C>G (p.Pro869Arg) c.2366C>G (p.Pro789Arg) c.*999C>G (n.*999C>G) c.2615C>G (p.Pro872Arg) c.2375C>G (p.Pro792Arg) c.926C>G (p.Pro309Arg) n.2671C>G | dbSNP gnomAD v4 |
| 4 | g.5618578G= | CA1435421670 | EVC2 | c.2606C= (p.Pro869=) c.2366C= (p.Pro789=) c.*999C= (n.*999C=) c.2615C= (p.Pro872=) c.2375C= (p.Pro792=) c.926C= (p.Pro309=) n.2671C= | |
| 4 | g.5618578G>T | CA356143374 | EVC2 | c.2606C>A (p.Pro869His) c.2366C>A (p.Pro789His) c.*999C>A (n.*999C>A) c.2615C>A (p.Pro872His) c.2375C>A (p.Pro792His) c.926C>A (p.Pro309His) n.2671C>A | |
| 4 | g.5618579G>A | CA356143377 | EVC2 | c.2605C>T (p.Pro869Ser) c.2365C>T (p.Pro789Ser) c.*998C>T (n.*998C>T) c.2614C>T (p.Pro872Ser) c.2374C>T (p.Pro792Ser) c.925C>T (p.Pro309Ser) n.2670C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618579G>C | CA356143382 | EVC2 | c.2605C>G (p.Pro869Ala) c.2365C>G (p.Pro789Ala) c.*998C>G (n.*998C>G) c.2614C>G (p.Pro872Ala) c.2374C>G (p.Pro792Ala) c.925C>G (p.Pro309Ala) n.2670C>G | |
| 4 | g.5618579G= | CA1435421675 | EVC2 | c.2605C= (p.Pro869=) c.2365C= (p.Pro789=) c.*998C= (n.*998C=) c.2614C= (p.Pro872=) c.2374C= (p.Pro792=) c.925C= (p.Pro309=) n.2670C= | |
| 4 | g.5618579G>T | CA356143379 | EVC2 | c.2605C>A (p.Pro869Thr) c.2365C>A (p.Pro789Thr) c.*998C>A (n.*998C>A) c.2614C>A (p.Pro872Thr) c.2374C>A (p.Pro792Thr) c.925C>A (p.Pro309Thr) n.2670C>A | |
| 4 | g.5618580G>A | CA2834655 | EVC2 | c.2604C>T (p.Leu868=) c.2364C>T (p.Leu788=) c.*997C>T (n.*997C>T) c.2613C>T (p.Leu871=) c.2373C>T (p.Leu791=) c.924C>T (p.Leu308=) n.2669C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618580G>C | CA438203837 | EVC2 | c.2604C>G (p.Leu868=) c.2364C>G (p.Leu788=) c.*997C>G (n.*997C>G) c.2613C>G (p.Leu871=) c.2373C>G (p.Leu791=) c.924C>G (p.Leu308=) n.2669C>G | ClinVar gnomAD v4 |
| 4 | g.5618580G= | CA1435421678 | EVC2 | c.2604C= (p.Leu868=) c.2364C= (p.Leu788=) c.*997C= (n.*997C=) c.2613C= (p.Leu871=) c.2373C= (p.Leu791=) c.924C= (p.Leu308=) n.2669C= | |
| 4 | g.5618580G>T | CA438203838 | EVC2 | c.2604C>A (p.Leu868=) c.2364C>A (p.Leu788=) c.*997C>A (n.*997C>A) c.2613C>A (p.Leu871=) c.2373C>A (p.Leu791=) c.924C>A (p.Leu308=) n.2669C>A | |
| 4 | g.5618581A= | CA1435421681 | EVC2 | c.2603T= (p.Leu868=) c.2363T= (p.Leu788=) c.*996T= (n.*996T=) c.2612T= (p.Leu871=) c.2372T= (p.Leu791=) c.923T= (p.Leu308=) n.2668T= | |
| 4 | g.5618581A>C | CA356143385 | EVC2 | c.2603T>G (p.Leu868Arg) c.2363T>G (p.Leu788Arg) c.*996T>G (n.*996T>G) c.2612T>G (p.Leu871Arg) c.2372T>G (p.Leu791Arg) c.923T>G (p.Leu308Arg) n.2668T>G | |
| 4 | g.5618581A>G | CA356143383 | EVC2 | c.2603T>C (p.Leu868Pro) c.2363T>C (p.Leu788Pro) c.*996T>C (n.*996T>C) c.2612T>C (p.Leu871Pro) c.2372T>C (p.Leu791Pro) c.923T>C (p.Leu308Pro) n.2668T>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618581A>T | CA356143384 | EVC2 | c.2603T>A (p.Leu868His) c.2363T>A (p.Leu788His) c.*996T>A (n.*996T>A) c.2612T>A (p.Leu871His) c.2372T>A (p.Leu791His) c.923T>A (p.Leu308His) n.2668T>A | |
| 4 | g.5618582G>A | CA2834656 | EVC2 | c.2602C>T (p.Leu868Phe) c.2362C>T (p.Leu788Phe) c.*995C>T (n.*995C>T) c.2611C>T (p.Leu871Phe) c.2371C>T (p.Leu791Phe) c.922C>T (p.Leu308Phe) n.2667C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618582G>C | CA356143387 | EVC2 | c.2602C>G (p.Leu868Val) c.2362C>G (p.Leu788Val) c.*995C>G (n.*995C>G) c.2611C>G (p.Leu871Val) c.2371C>G (p.Leu791Val) c.922C>G (p.Leu308Val) n.2667C>G | |
| 4 | g.5618582G= | CA1435421683 | EVC2 | c.2602C= (p.Leu868=) c.2362C= (p.Leu788=) c.*995C= (n.*995C=) c.2611C= (p.Leu871=) c.2371C= (p.Leu791=) c.922C= (p.Leu308=) n.2667C= | |
| 4 | g.5618582G>T | CA356143389 | EVC2 | c.2602C>A (p.Leu868Ile) c.2362C>A (p.Leu788Ile) c.*995C>A (n.*995C>A) c.2611C>A (p.Leu871Ile) c.2371C>A (p.Leu791Ile) c.922C>A (p.Leu308Ile) n.2667C>A | |
| 4 | g.5618583G>A | CA2834657 | EVC2 | c.2601C>T (p.Ala867=) c.2361C>T (p.Ala787=) c.*994C>T (n.*994C>T) c.2610C>T (p.Ala870=) c.2370C>T (p.Ala790=) c.921C>T (p.Ala307=) n.2666C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618583G>C | CA438203839 | EVC2 | c.2601C>G (p.Ala867=) c.2361C>G (p.Ala787=) c.*994C>G (n.*994C>G) c.2610C>G (p.Ala870=) c.2370C>G (p.Ala790=) c.921C>G (p.Ala307=) n.2666C>G | |
| 4 | g.5618583G= | CA1435421688 | EVC2 | c.2601C= (p.Ala867=) c.2361C= (p.Ala787=) c.*994C= (n.*994C=) c.2610C= (p.Ala870=) c.2370C= (p.Ala790=) c.921C= (p.Ala307=) n.2666C= | |
| 4 | g.5618583G>T | CA438203840 | EVC2 | c.2601C>A (p.Ala867=) c.2361C>A (p.Ala787=) c.*994C>A (n.*994C>A) c.2610C>A (p.Ala870=) c.2370C>A (p.Ala790=) c.921C>A (p.Ala307=) n.2666C>A | |
| 4 | g.5618584G>A | CA356143393 | EVC2 | c.2600C>T (p.Ala867Val) c.2360C>T (p.Ala787Val) c.*993C>T (n.*993C>T) c.2609C>T (p.Ala870Val) c.2369C>T (p.Ala790Val) c.920C>T (p.Ala307Val) n.2665C>T | |
| 4 | g.5618584G>C | CA356143395 | EVC2 | c.2600C>G (p.Ala867Gly) c.2360C>G (p.Ala787Gly) c.*993C>G (n.*993C>G) c.2609C>G (p.Ala870Gly) c.2369C>G (p.Ala790Gly) c.920C>G (p.Ala307Gly) n.2665C>G | |
| 4 | g.5618584G>T | CA356143396 | EVC2 | c.2600C>A (p.Ala867Asp) c.2360C>A (p.Ala787Asp) c.*993C>A (n.*993C>A) c.2609C>A (p.Ala870Asp) c.2369C>A (p.Ala790Asp) c.920C>A (p.Ala307Asp) n.2665C>A | gnomAD v4 |
| 4 | g.5618585C>A | CA2834658 | EVC2 | c.2599G>T (p.Ala867Ser) c.2359G>T (p.Ala787Ser) c.*992G>T (n.*992G>T) c.2608G>T (p.Ala870Ser) c.2368G>T (p.Ala790Ser) c.919G>T (p.Ala307Ser) n.2664G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618585C= | CA1435421693 | EVC2 | c.2599G= (p.Ala867=) c.2359G= (p.Ala787=) c.*992G= (n.*992G=) c.2608G= (p.Ala870=) c.2368G= (p.Ala790=) c.919G= (p.Ala307=) n.2664G= | |
| 4 | g.5618585C>G | CA356143403 | EVC2 | c.2599G>C (p.Ala867Pro) c.2359G>C (p.Ala787Pro) c.*992G>C (n.*992G>C) c.2608G>C (p.Ala870Pro) c.2368G>C (p.Ala790Pro) c.919G>C (p.Ala307Pro) n.2664G>C | |
| 4 | g.5618585C>T | CA356143404 | EVC2 | c.2599G>A (p.Ala867Thr) c.2359G>A (p.Ala787Thr) c.*992G>A (n.*992G>A) c.2608G>A (p.Ala870Thr) c.2368G>A (p.Ala790Thr) c.919G>A (p.Ala307Thr) n.2664G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618586dup | CA2669800461 | EVC2 | c.2599dup (p.Ala867GlyfsTer?) c.2359dup (p.Ala787GlyfsTer?) c.*992dup (n.*992dup) c.2608dup (p.Ala870GlyfsTer?) c.2368dup (p.Ala790GlyfsTer?) c.919dup (p.Ala307GlyfsTer?) n.2664dup | gnomAD v4 |
| 4 | g.5618586C>A | CA356143411 | EVC2 | c.2598G>T (p.Leu866Phe) c.2358G>T (p.Leu786Phe) c.*991G>T (n.*991G>T) c.2607G>T (p.Leu869Phe) c.2367G>T (p.Leu789Phe) c.918G>T (p.Leu306Phe) n.2663G>T | |
| 4 | g.5618586C>G | CA356143408 | EVC2 | c.2598G>C (p.Leu866Phe) c.2358G>C (p.Leu786Phe) c.*991G>C (n.*991G>C) c.2607G>C (p.Leu869Phe) c.2367G>C (p.Leu789Phe) c.918G>C (p.Leu306Phe) n.2663G>C | |
| 4 | g.5618586C>T | CA438203841 | EVC2 | c.2598G>A (p.Leu866=) c.2358G>A (p.Leu786=) c.*991G>A (n.*991G>A) c.2607G>A (p.Leu869=) c.2367G>A (p.Leu789=) c.918G>A (p.Leu306=) n.2663G>A | |
| 4 | g.5618587A>C | CA356143420 | EVC2 | c.2597T>G (p.Leu866Trp) c.2357T>G (p.Leu786Trp) c.*990T>G (n.*990T>G) c.2606T>G (p.Leu869Trp) c.2366T>G (p.Leu789Trp) c.917T>G (p.Leu306Trp) n.2662T>G | |
| 4 | g.5618587A>G | CA356143422 | EVC2 | c.2597T>C (p.Leu866Ser) c.2357T>C (p.Leu786Ser) c.*990T>C (n.*990T>C) c.2606T>C (p.Leu869Ser) c.2366T>C (p.Leu789Ser) c.917T>C (p.Leu306Ser) n.2662T>C | gnomAD v4 |
| 4 | g.5618587A>T | CA356143424 | EVC2 | c.2597T>A (p.Leu866Ter) c.2357T>A (p.Leu786Ter) c.*990T>A (n.*990T>A) c.2606T>A (p.Leu869Ter) c.2366T>A (p.Leu789Ter) c.917T>A (p.Leu306Ter) n.2662T>A | |
| 4 | g.5618588A>C | CA356143426 | EVC2 | c.2596T>G (p.Leu866Val) c.2356T>G (p.Leu786Val) c.*989T>G (n.*989T>G) c.2605T>G (p.Leu869Val) c.2365T>G (p.Leu789Val) c.916T>G (p.Leu306Val) n.2661T>G | |
| 4 | g.5618588A>G | CA438203842 | EVC2 | c.2596T>C (p.Leu866=) c.2356T>C (p.Leu786=) c.*989T>C (n.*989T>C) c.2605T>C (p.Leu869=) c.2365T>C (p.Leu789=) c.916T>C (p.Leu306=) n.2661T>C | |
| 4 | g.5618588A>T | CA356143427 | EVC2 | c.2596T>A (p.Leu866Met) c.2356T>A (p.Leu786Met) c.*989T>A (n.*989T>A) c.2605T>A (p.Leu869Met) c.2365T>A (p.Leu789Met) c.916T>A (p.Leu306Met) n.2661T>A | |
| 4 | g.5618589G>A | CA438203843 | EVC2 | c.2595C>T (p.Ser865=) c.2355C>T (p.Ser785=) c.*988C>T (n.*988C>T) c.2604C>T (p.Ser868=) c.2364C>T (p.Ser788=) c.915C>T (p.Ser305=) n.2660C>T | |
| 4 | g.5618589G>C | CA356143430 | EVC2 | c.2595C>G (p.Ser865Arg) c.2355C>G (p.Ser785Arg) c.*988C>G (n.*988C>G) c.2604C>G (p.Ser868Arg) c.2364C>G (p.Ser788Arg) c.915C>G (p.Ser305Arg) n.2660C>G | dbSNP |
| 4 | g.5618589G= | CA1435421695 | EVC2 | c.2595C= (p.Ser865=) c.2355C= (p.Ser785=) c.*988C= (n.*988C=) c.2604C= (p.Ser868=) c.2364C= (p.Ser788=) c.915C= (p.Ser305=) n.2660C= | |
| 4 | g.5618589G>T | CA356143433 | EVC2 | c.2595C>A (p.Ser865Arg) c.2355C>A (p.Ser785Arg) c.*988C>A (n.*988C>A) c.2604C>A (p.Ser868Arg) c.2364C>A (p.Ser788Arg) c.915C>A (p.Ser305Arg) n.2660C>A | |
| 4 | g.5618590C>A | CA356143436 | EVC2 | c.2594G>T (p.Ser865Ile) c.2354G>T (p.Ser785Ile) c.*987G>T (n.*987G>T) c.2603G>T (p.Ser868Ile) c.2363G>T (p.Ser788Ile) c.914G>T (p.Ser305Ile) n.2659G>T | |
| 4 | g.5618590C>G | CA356143438 | EVC2 | c.2594G>C (p.Ser865Thr) c.2354G>C (p.Ser785Thr) c.*987G>C (n.*987G>C) c.2603G>C (p.Ser868Thr) c.2363G>C (p.Ser788Thr) c.914G>C (p.Ser305Thr) n.2659G>C | |
| 4 | g.5618590C>T | CA356143441 | EVC2 | c.2594G>A (p.Ser865Asn) c.2354G>A (p.Ser785Asn) c.*987G>A (n.*987G>A) c.2603G>A (p.Ser868Asn) c.2363G>A (p.Ser788Asn) c.914G>A (p.Ser305Asn) n.2659G>A | |
| 4 | g.5618591T>A | CA356143444 | EVC2 | c.2593A>T (p.Ser865Cys) c.2353A>T (p.Ser785Cys) c.*986A>T (n.*986A>T) c.2602A>T (p.Ser868Cys) c.2362A>T (p.Ser788Cys) c.913A>T (p.Ser305Cys) n.2658A>T | |
| 4 | g.5618591T>C | CA356143446 | EVC2 | c.2593A>G (p.Ser865Gly) c.2353A>G (p.Ser785Gly) c.*986A>G (n.*986A>G) c.2602A>G (p.Ser868Gly) c.2362A>G (p.Ser788Gly) c.913A>G (p.Ser305Gly) n.2658A>G | |
| 4 | g.5618591T>G | CA356143449 | EVC2 | c.2593A>C (p.Ser865Arg) c.2353A>C (p.Ser785Arg) c.*986A>C (n.*986A>C) c.2602A>C (p.Ser868Arg) c.2362A>C (p.Ser788Arg) c.913A>C (p.Ser305Arg) n.2658A>C | |
| 4 | g.5618592C>A | CA356143451 | EVC2 | c.2592G>T (p.Arg864Ser) c.2352G>T (p.Arg784Ser) c.*985G>T (n.*985G>T) c.2601G>T (p.Arg867Ser) c.2361G>T (p.Arg787Ser) c.912G>T (p.Arg304Ser) n.2657G>T | gnomAD v4 |
| 4 | g.5618592C>G | CA356143454 | EVC2 | c.2592G>C (p.Arg864Ser) c.2352G>C (p.Arg784Ser) c.*985G>C (n.*985G>C) c.2601G>C (p.Arg867Ser) c.2361G>C (p.Arg787Ser) c.912G>C (p.Arg304Ser) n.2657G>C | |
| 4 | g.5618592C>T | CA438203844 | EVC2 | c.2592G>A (p.Arg864=) c.2352G>A (p.Arg784=) c.*985G>A (n.*985G>A) c.2601G>A (p.Arg867=) c.2361G>A (p.Arg787=) c.912G>A (p.Arg304=) n.2657G>A | |
| 4 | g.5618593C>A | CA356143457 | EVC2 | c.2591G>T (p.Arg864Met) c.2351G>T (p.Arg784Met) c.*984G>T (n.*984G>T) c.2600G>T (p.Arg867Met) c.2360G>T (p.Arg787Met) c.911G>T (p.Arg304Met) n.2656G>T | |
| 4 | g.5618593C= | CA1435421700 | EVC2 | c.2591G= (p.Arg864=) c.2351G= (p.Arg784=) c.*984G= (n.*984G=) c.2600G= (p.Arg867=) c.2360G= (p.Arg787=) c.911G= (p.Arg304=) n.2656G= | |
| 4 | g.5618593C>G | CA356143459 | EVC2 | c.2591G>C (p.Arg864Thr) c.2351G>C (p.Arg784Thr) c.*984G>C (n.*984G>C) c.2600G>C (p.Arg867Thr) c.2360G>C (p.Arg787Thr) c.911G>C (p.Arg304Thr) n.2656G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618593C>T | CA2834659 | EVC2 | c.2591G>A (p.Arg864Lys) c.2351G>A (p.Arg784Lys) c.*984G>A (n.*984G>A) c.2600G>A (p.Arg867Lys) c.2360G>A (p.Arg787Lys) c.911G>A (p.Arg304Lys) n.2656G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618594T>A | CA356143461 | EVC2 | c.2590A>T (p.Arg864Trp) c.2350A>T (p.Arg784Trp) c.*983A>T (n.*983A>T) c.2599A>T (p.Arg867Trp) c.2359A>T (p.Arg787Trp) c.910A>T (p.Arg304Trp) n.2655A>T | |
| 4 | g.5618594T>C | CA2834660 | EVC2 | c.2590A>G (p.Arg864Gly) c.2350A>G (p.Arg784Gly) c.*983A>G (n.*983A>G) c.2599A>G (p.Arg867Gly) c.2359A>G (p.Arg787Gly) c.910A>G (p.Arg304Gly) n.2655A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618594T>G | CA438203845 | EVC2 | c.2590A>C (p.Arg864=) c.2350A>C (p.Arg784=) c.*983A>C (n.*983A>C) c.2599A>C (p.Arg867=) c.2359A>C (p.Arg787=) c.910A>C (p.Arg304=) n.2655A>C | |
| 4 | g.5618594T= | CA1435421706 | EVC2 | c.2590A= (p.Arg864=) c.2350A= (p.Arg784=) c.*983A= (n.*983A=) c.2599A= (p.Arg867=) c.2359A= (p.Arg787=) c.910A= (p.Arg304=) n.2655A= | |
| 4 | g.5618595G>A | CA438203846 | EVC2 | c.2589C>T (p.Asp863=) c.2349C>T (p.Asp783=) c.*982C>T (n.*982C>T) c.2598C>T (p.Asp866=) c.2358C>T (p.Asp786=) c.909C>T (p.Asp303=) n.2654C>T | |
| 4 | g.5618595G>C | CA356143466 | EVC2 | c.2589C>G (p.Asp863Glu) c.2349C>G (p.Asp783Glu) c.*982C>G (n.*982C>G) c.2598C>G (p.Asp866Glu) c.2358C>G (p.Asp786Glu) c.909C>G (p.Asp303Glu) n.2654C>G | |
| 4 | g.5618595G>T | CA356143468 | EVC2 | c.2589C>A (p.Asp863Glu) c.2349C>A (p.Asp783Glu) c.*982C>A (n.*982C>A) c.2598C>A (p.Asp866Glu) c.2358C>A (p.Asp786Glu) c.909C>A (p.Asp303Glu) n.2654C>A | |
| 4 | g.5618596T>A | CA356143470 | EVC2 | c.2588A>T (p.Asp863Val) c.2348A>T (p.Asp783Val) c.*981A>T (n.*981A>T) c.2597A>T (p.Asp866Val) c.2357A>T (p.Asp786Val) c.908A>T (p.Asp303Val) n.2653A>T | dbSNP |
| 4 | g.5618596T>C | CA2834661 | EVC2 | c.2588A>G (p.Asp863Gly) c.2348A>G (p.Asp783Gly) c.*981A>G (n.*981A>G) c.2597A>G (p.Asp866Gly) c.2357A>G (p.Asp786Gly) c.908A>G (p.Asp303Gly) n.2653A>G | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 4 | g.5618596T>G | CA356143474 | EVC2 | c.2588A>C (p.Asp863Ala) c.2348A>C (p.Asp783Ala) c.*981A>C (n.*981A>C) c.2597A>C (p.Asp866Ala) c.2357A>C (p.Asp786Ala) c.908A>C (p.Asp303Ala) n.2653A>C | |
| 4 | g.5618596T= | CA1435421711 | EVC2 | c.2588A= (p.Asp863=) c.2348A= (p.Asp783=) c.*981A= (n.*981A=) c.2597A= (p.Asp866=) c.2357A= (p.Asp786=) c.908A= (p.Asp303=) n.2653A= | |
| 4 | g.5618597C>A | CA356143476 | EVC2 | c.2587G>T (p.Asp863Tyr) c.2347G>T (p.Asp783Tyr) c.*980G>T (n.*980G>T) c.2596G>T (p.Asp866Tyr) c.2356G>T (p.Asp786Tyr) c.907G>T (p.Asp303Tyr) n.2652G>T | |
| 4 | g.5618597C>G | CA356143478 | EVC2 | c.2587G>C (p.Asp863His) c.2347G>C (p.Asp783His) c.*980G>C (n.*980G>C) c.2596G>C (p.Asp866His) c.2356G>C (p.Asp786His) c.907G>C (p.Asp303His) n.2652G>C | |
| 4 | g.5618597C>T | CA356143479 | EVC2 | c.2587G>A (p.Asp863Asn) c.2347G>A (p.Asp783Asn) c.*980G>A (n.*980G>A) c.2596G>A (p.Asp866Asn) c.2356G>A (p.Asp786Asn) c.907G>A (p.Asp303Asn) n.2652G>A | ClinVar |
| 4 | g.5618598C>A | CA356143481 | EVC2 | c.2586G>T (p.Met862Ile) c.2346G>T (p.Met782Ile) c.*979G>T (n.*979G>T) c.2595G>T (p.Met865Ile) c.2355G>T (p.Met785Ile) c.906G>T (p.Met302Ile) n.2651G>T | |
| 4 | g.5618598C>G | CA356143484 | EVC2 | c.2586G>C (p.Met862Ile) c.2346G>C (p.Met782Ile) c.*979G>C (n.*979G>C) c.2595G>C (p.Met865Ile) c.2355G>C (p.Met785Ile) c.906G>C (p.Met302Ile) n.2651G>C | gnomAD v4 COSMIC COSMIC |
| 4 | g.5618598C>T | CA356143483 | EVC2 | c.2586G>A (p.Met862Ile) c.2346G>A (p.Met782Ile) c.*979G>A (n.*979G>A) c.2595G>A (p.Met865Ile) c.2355G>A (p.Met785Ile) c.906G>A (p.Met302Ile) n.2651G>A | |
| 4 | g.5618599A>C | CA356143486 | EVC2 | c.2585T>G (p.Met862Arg) c.2345T>G (p.Met782Arg) c.*978T>G (n.*978T>G) c.2594T>G (p.Met865Arg) c.2354T>G (p.Met785Arg) c.905T>G (p.Met302Arg) n.2650T>G | |
| 4 | g.5618599A>G | CA356143488 | EVC2 | c.2585T>C (p.Met862Thr) c.2345T>C (p.Met782Thr) c.*978T>C (n.*978T>C) c.2594T>C (p.Met865Thr) c.2354T>C (p.Met785Thr) c.905T>C (p.Met302Thr) n.2650T>C | |
| 4 | g.5618599A>T | CA356143490 | EVC2 | c.2585T>A (p.Met862Lys) c.2345T>A (p.Met782Lys) c.*978T>A (n.*978T>A) c.2594T>A (p.Met865Lys) c.2354T>A (p.Met785Lys) c.905T>A (p.Met302Lys) n.2650T>A | ClinVar |
| 4 | g.5618600T>A | CA356143491 | EVC2 | c.2584A>T (p.Met862Leu) c.2344A>T (p.Met782Leu) c.*977A>T (n.*977A>T) c.2593A>T (p.Met865Leu) c.2353A>T (p.Met785Leu) c.904A>T (p.Met302Leu) n.2649A>T | |
| 4 | g.5618600T>C | CA356143492 | EVC2 | c.2584A>G (p.Met862Val) c.2344A>G (p.Met782Val) c.*977A>G (n.*977A>G) c.2593A>G (p.Met865Val) c.2353A>G (p.Met785Val) c.904A>G (p.Met302Val) n.2649A>G | dbSNP |
| 4 | g.5618600T>G | CA356143494 | EVC2 | c.2584A>C (p.Met862Leu) c.2344A>C (p.Met782Leu) c.*977A>C (n.*977A>C) c.2593A>C (p.Met865Leu) c.2353A>C (p.Met785Leu) c.904A>C (p.Met302Leu) n.2649A>C | |
| 4 | g.5618600T= | CA1435421714 | EVC2 | c.2584A= (p.Met862=) c.2344A= (p.Met782=) c.*977A= (n.*977A=) c.2593A= (p.Met865=) c.2353A= (p.Met785=) c.904A= (p.Met302=) n.2649A= | |
| 4 | g.5618601C>A | CA356143496 | EVC2 | c.2583G>T (p.Gln861His) c.2343G>T (p.Gln781His) c.*976G>T (n.*976G>T) c.2592G>T (p.Gln864His) c.2352G>T (p.Gln784His) c.903G>T (p.Gln301His) n.2648G>T | |
| 4 | g.5618601C>G | CA356143497 | EVC2 | c.2583G>C (p.Gln861His) c.2343G>C (p.Gln781His) c.*976G>C (n.*976G>C) c.2592G>C (p.Gln864His) c.2352G>C (p.Gln784His) c.903G>C (p.Gln301His) n.2648G>C | |
| 4 | g.5618601C>T | CA438203847 | EVC2 | c.2583G>A (p.Gln861=) c.2343G>A (p.Gln781=) c.*976G>A (n.*976G>A) c.2592G>A (p.Gln864=) c.2352G>A (p.Gln784=) c.903G>A (p.Gln301=) n.2648G>A | ClinVar |
| 4 | g.5618602T>A | CA356143498 | EVC2 | c.2582A>T (p.Gln861Leu) c.2342A>T (p.Gln781Leu) c.*975A>T (n.*975A>T) c.2591A>T (p.Gln864Leu) c.2351A>T (p.Gln784Leu) c.902A>T (p.Gln301Leu) n.2647A>T | |
| 4 | g.5618602T>C | CA356143500 | EVC2 | c.2582A>G (p.Gln861Arg) c.2342A>G (p.Gln781Arg) c.*975A>G (n.*975A>G) c.2591A>G (p.Gln864Arg) c.2351A>G (p.Gln784Arg) c.902A>G (p.Gln301Arg) n.2647A>G | gnomAD v4 |
| 4 | g.5618602T>G | CA356143502 | EVC2 | c.2582A>C (p.Gln861Pro) c.2342A>C (p.Gln781Pro) c.*975A>C (n.*975A>C) c.2591A>C (p.Gln864Pro) c.2351A>C (p.Gln784Pro) c.902A>C (p.Gln301Pro) n.2647A>C | |
| 4 | g.5618603G>A | CA356143505 | EVC2 | c.2581C>T (p.Gln861Ter) c.2341C>T (p.Gln781Ter) c.*974C>T (n.*974C>T) c.2590C>T (p.Gln864Ter) c.2350C>T (p.Gln784Ter) c.901C>T (p.Gln301Ter) n.2646C>T | gnomAD v4 COSMIC COSMIC |
| 4 | g.5618603G>C | CA356143506 | EVC2 | c.2581C>G (p.Gln861Glu) c.2341C>G (p.Gln781Glu) c.*974C>G (n.*974C>G) c.2590C>G (p.Gln864Glu) c.2350C>G (p.Gln784Glu) c.901C>G (p.Gln301Glu) n.2646C>G | |
| 4 | g.5618603G>T | CA356143503 | EVC2 | c.2581C>A (p.Gln861Lys) c.2341C>A (p.Gln781Lys) c.*974C>A (n.*974C>A) c.2590C>A (p.Gln864Lys) c.2350C>A (p.Gln784Lys) c.901C>A (p.Gln301Lys) n.2646C>A | |
| 4 | g.5618604A>C | CA438203848 | EVC2 | c.2580T>G (p.Ala860=) c.2340T>G (p.Ala780=) c.*973T>G (n.*973T>G) c.2589T>G (p.Ala863=) c.2349T>G (p.Ala783=) c.900T>G (p.Ala300=) n.2645T>G | |
| 4 | g.5618604A>G | CA438203849 | EVC2 | c.2580T>C (p.Ala860=) c.2340T>C (p.Ala780=) c.*973T>C (n.*973T>C) c.2589T>C (p.Ala863=) c.2349T>C (p.Ala783=) c.900T>C (p.Ala300=) n.2645T>C | gnomAD v4 |
| 4 | g.5618604A>T | CA438203850 | EVC2 | c.2580T>A (p.Ala860=) c.2340T>A (p.Ala780=) c.*973T>A (n.*973T>A) c.2589T>A (p.Ala863=) c.2349T>A (p.Ala783=) c.900T>A (p.Ala300=) n.2645T>A | |
| 4 | g.5618605G>A | CA2834662 | EVC2 | c.2579C>T (p.Ala860Val) c.2339C>T (p.Ala780Val) c.*972C>T (n.*972C>T) c.2588C>T (p.Ala863Val) c.2348C>T (p.Ala783Val) c.899C>T (p.Ala300Val) n.2644C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.5618605G>C | CA356143508 | EVC2 | c.2579C>G (p.Ala860Gly) c.2339C>G (p.Ala780Gly) c.*972C>G (n.*972C>G) c.2588C>G (p.Ala863Gly) c.2348C>G (p.Ala783Gly) c.899C>G (p.Ala300Gly) n.2644C>G | |
| 4 | g.5618605G= | CA1435421718 | EVC2 | c.2579C= (p.Ala860=) c.2339C= (p.Ala780=) c.*972C= (n.*972C=) c.2588C= (p.Ala863=) c.2348C= (p.Ala783=) c.899C= (p.Ala300=) n.2644C= | |
| 4 | g.5618605G>T | CA356143510 | EVC2 | c.2579C>A (p.Ala860Asp) c.2339C>A (p.Ala780Asp) c.*972C>A (n.*972C>A) c.2588C>A (p.Ala863Asp) c.2348C>A (p.Ala783Asp) c.899C>A (p.Ala300Asp) n.2644C>A | |
| 4 | g.5618606C>A | CA356143511 | EVC2 | c.2578G>T (p.Ala860Ser) c.2338G>T (p.Ala780Ser) c.*971G>T (n.*971G>T) c.2587G>T (p.Ala863Ser) c.2347G>T (p.Ala783Ser) c.898G>T (p.Ala300Ser) n.2643G>T | dbSNP |
| 4 | g.5618606C>G | CA356143512 | EVC2 | c.2578G>C (p.Ala860Pro) c.2338G>C (p.Ala780Pro) c.*971G>C (n.*971G>C) c.2587G>C (p.Ala863Pro) c.2347G>C (p.Ala783Pro) c.898G>C (p.Ala300Pro) n.2643G>C | |
| 4 | g.5618606C>T | CA356143513 | EVC2 | c.2578G>A (p.Ala860Thr) c.2338G>A (p.Ala780Thr) c.*971G>A (n.*971G>A) c.2587G>A (p.Ala863Thr) c.2347G>A (p.Ala783Thr) c.898G>A (p.Ala300Thr) n.2643G>A | gnomAD v4 |
| 4 | g.5618607A>C | CA356143515 | EVC2 | c.2577T>G (p.Phe859Leu) c.2337T>G (p.Phe779Leu) c.*970T>G (n.*970T>G) c.2586T>G (p.Phe862Leu) c.2346T>G (p.Phe782Leu) c.897T>G (p.Phe299Leu) n.2642T>G | |
| 4 | g.5618607A>G | CA438203851 | EVC2 | c.2577T>C (p.Phe859=) c.2337T>C (p.Phe779=) c.*970T>C (n.*970T>C) c.2586T>C (p.Phe862=) c.2346T>C (p.Phe782=) c.897T>C (p.Phe299=) n.2642T>C | |
| 4 | g.5618607A>T | CA356143516 | EVC2 | c.2577T>A (p.Phe859Leu) c.2337T>A (p.Phe779Leu) c.*970T>A (n.*970T>A) c.2586T>A (p.Phe862Leu) c.2346T>A (p.Phe782Leu) c.897T>A (p.Phe299Leu) n.2642T>A | |
| 4 | g.5618608A>C | CA356143517 | EVC2 | c.2576T>G (p.Phe859Cys) c.2336T>G (p.Phe779Cys) c.*969T>G (n.*969T>G) c.2585T>G (p.Phe862Cys) c.2345T>G (p.Phe782Cys) c.896T>G (p.Phe299Cys) n.2641T>G | |
| 4 | g.5618608A>G | CA356143518 | EVC2 | c.2576T>C (p.Phe859Ser) c.2336T>C (p.Phe779Ser) c.*969T>C (n.*969T>C) c.2585T>C (p.Phe862Ser) c.2345T>C (p.Phe782Ser) c.896T>C (p.Phe299Ser) n.2641T>C | |
| 4 | g.5618608A>T | CA356143519 | EVC2 | c.2576T>A (p.Phe859Tyr) c.2336T>A (p.Phe779Tyr) c.*969T>A (n.*969T>A) c.2585T>A (p.Phe862Tyr) c.2345T>A (p.Phe782Tyr) c.896T>A (p.Phe299Tyr) n.2641T>A | |
| 4 | g.5618609A= | CA1435421722 | EVC2 | c.2575T= (p.Phe859=) c.2335T= (p.Phe779=) c.*968T= (n.*968T=) c.2584T= (p.Phe862=) c.2344T= (p.Phe782=) c.895T= (p.Phe299=) n.2640T= | |
| 4 | g.5618609A>C | CA356143520 | EVC2 | c.2575T>G (p.Phe859Val) c.2335T>G (p.Phe779Val) c.*968T>G (n.*968T>G) c.2584T>G (p.Phe862Val) c.2344T>G (p.Phe782Val) c.895T>G (p.Phe299Val) n.2640T>G | |
| 4 | g.5618609A>G | CA2834663 | EVC2 | c.2575T>C (p.Phe859Leu) c.2335T>C (p.Phe779Leu) c.*968T>C (n.*968T>C) c.2584T>C (p.Phe862Leu) c.2344T>C (p.Phe782Leu) c.895T>C (p.Phe299Leu) n.2640T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.5618609A>T | CA356143521 | EVC2 | c.2575T>A (p.Phe859Ile) c.2335T>A (p.Phe779Ile) c.*968T>A (n.*968T>A) c.2584T>A (p.Phe862Ile) c.2344T>A (p.Phe782Ile) c.895T>A (p.Phe299Ile) n.2640T>A | |
| 4 | g.5618610G>A | CA438203852 | EVC2 | c.2574C>T (p.Cys858=) c.2334C>T (p.Cys778=) c.*967C>T (n.*967C>T) c.2583C>T (p.Cys861=) c.2343C>T (p.Cys781=) c.894C>T (p.Cys298=) n.2639C>T | dbSNP gnomAD v2 |
| 4 | g.5618610G>C | CA356143522 | EVC2 | c.2574C>G (p.Cys858Trp) c.2334C>G (p.Cys778Trp) c.*967C>G (n.*967C>G) c.2583C>G (p.Cys861Trp) c.2343C>G (p.Cys781Trp) c.894C>G (p.Cys298Trp) n.2639C>G | gnomAD v4 |
| 4 | g.5618610G= | CA1435421728 | EVC2 | c.2574C= (p.Cys858=) c.2334C= (p.Cys778=) c.*967C= (n.*967C=) c.2583C= (p.Cys861=) c.2343C= (p.Cys781=) c.894C= (p.Cys298=) n.2639C= | |
| 4 | g.5618610G>T | CA356143523 | EVC2 | c.2574C>A (p.Cys858Ter) c.2334C>A (p.Cys778Ter) c.*967C>A (n.*967C>A) c.2583C>A (p.Cys861Ter) c.2343C>A (p.Cys781Ter) c.894C>A (p.Cys298Ter) n.2639C>A | |
| 4 | g.5618611C>A | CA356143525 | EVC2 | c.2573G>T (p.Cys858Phe) c.2333G>T (p.Cys778Phe) c.*966G>T (n.*966G>T) c.2582G>T (p.Cys861Phe) c.2342G>T (p.Cys781Phe) c.893G>T (p.Cys298Phe) n.2638G>T | |
| 4 | g.5618611C= | CA1435421732 | EVC2 | c.2573G= (p.Cys858=) c.2333G= (p.Cys778=) c.*966G= (n.*966G=) c.2582G= (p.Cys861=) c.2342G= (p.Cys781=) c.893G= (p.Cys298=) n.2638G= | |
| 4 | g.5618611C>G | CA2834664 | EVC2 | c.2573G>C (p.Cys858Ser) c.2333G>C (p.Cys778Ser) c.*966G>C (n.*966G>C) c.2582G>C (p.Cys861Ser) c.2342G>C (p.Cys781Ser) c.893G>C (p.Cys298Ser) n.2638G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618611C>T | CA356143524 | EVC2 | c.2573G>A (p.Cys858Tyr) c.2333G>A (p.Cys778Tyr) c.*966G>A (n.*966G>A) c.2582G>A (p.Cys861Tyr) c.2342G>A (p.Cys781Tyr) c.893G>A (p.Cys298Tyr) n.2638G>A | |
| 4 | g.5618612A= | CA1435421735 | EVC2 | c.2572T= (p.Cys858=) c.2332T= (p.Cys778=) c.*965T= (n.*965T=) c.2581T= (p.Cys861=) c.2341T= (p.Cys781=) c.892T= (p.Cys298=) n.2637T= | |
| 4 | g.5618612A>C | CA356143526 | EVC2 | c.2572T>G (p.Cys858Gly) c.2332T>G (p.Cys778Gly) c.*965T>G (n.*965T>G) c.2581T>G (p.Cys861Gly) c.2341T>G (p.Cys781Gly) c.892T>G (p.Cys298Gly) n.2637T>G | |
| 4 | g.5618612A>G | CA356143527 | EVC2 | c.2572T>C (p.Cys858Arg) c.2332T>C (p.Cys778Arg) c.*965T>C (n.*965T>C) c.2581T>C (p.Cys861Arg) c.2341T>C (p.Cys781Arg) c.892T>C (p.Cys298Arg) n.2637T>C | |
| 4 | g.5618612A>T | CA2834665 | EVC2 | c.2572T>A (p.Cys858Ser) c.2332T>A (p.Cys778Ser) c.*965T>A (n.*965T>A) c.2581T>A (p.Cys861Ser) c.2341T>A (p.Cys781Ser) c.892T>A (p.Cys298Ser) n.2637T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618613G>A | CA2834666 | EVC2 | c.2571C>T (p.Gly857=) c.2331C>T (p.Gly777=) c.*964C>T (n.*964C>T) c.2580C>T (p.Gly860=) c.2340C>T (p.Gly780=) c.891C>T (p.Gly297=) n.2636C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618613G>C | CA438203853 | EVC2 | c.2571C>G (p.Gly857=) c.2331C>G (p.Gly777=) c.*964C>G (n.*964C>G) c.2580C>G (p.Gly860=) c.2340C>G (p.Gly780=) c.891C>G (p.Gly297=) n.2636C>G | |
| 4 | g.5618613G= | CA1435421740 | EVC2 | c.2571C= (p.Gly857=) c.2331C= (p.Gly777=) c.*964C= (n.*964C=) c.2580C= (p.Gly860=) c.2340C= (p.Gly780=) c.891C= (p.Gly297=) n.2636C= | |
| 4 | g.5618613G>T | CA2834667 | EVC2 | c.2571C>A (p.Gly857=) c.2331C>A (p.Gly777=) c.*964C>A (n.*964C>A) c.2580C>A (p.Gly860=) c.2340C>A (p.Gly780=) c.891C>A (p.Gly297=) n.2636C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618614C>A | CA356143528 | EVC2 | c.2570G>T (p.Gly857Val) c.2330G>T (p.Gly777Val) c.*963G>T (n.*963G>T) c.2579G>T (p.Gly860Val) c.2339G>T (p.Gly780Val) c.890G>T (p.Gly297Val) n.2635G>T | |
| 4 | g.5618614C>G | CA356143529 | EVC2 | c.2570G>C (p.Gly857Ala) c.2330G>C (p.Gly777Ala) c.*963G>C (n.*963G>C) c.2579G>C (p.Gly860Ala) c.2339G>C (p.Gly780Ala) c.890G>C (p.Gly297Ala) n.2635G>C | |
| 4 | g.5618614C>T | CA356143530 | EVC2 | c.2570G>A (p.Gly857Asp) c.2330G>A (p.Gly777Asp) c.*963G>A (n.*963G>A) c.2579G>A (p.Gly860Asp) c.2339G>A (p.Gly780Asp) c.890G>A (p.Gly297Asp) n.2635G>A | |
| 4 | g.5618615C>A | CA356143531 | EVC2 | c.2569G>T (p.Gly857Cys) c.2329G>T (p.Gly777Cys) c.*962G>T (n.*962G>T) c.2578G>T (p.Gly860Cys) c.2338G>T (p.Gly780Cys) c.889G>T (p.Gly297Cys) n.2634G>T | |
| 4 | g.5618615C>G | CA356143532 | EVC2 | c.2569G>C (p.Gly857Arg) c.2329G>C (p.Gly777Arg) c.*962G>C (n.*962G>C) c.2578G>C (p.Gly860Arg) c.2338G>C (p.Gly780Arg) c.889G>C (p.Gly297Arg) n.2634G>C | |
| 4 | g.5618615C>T | CA356143533 | EVC2 | c.2569G>A (p.Gly857Ser) c.2329G>A (p.Gly777Ser) c.*962G>A (n.*962G>A) c.2578G>A (p.Gly860Ser) c.2338G>A (p.Gly780Ser) c.889G>A (p.Gly297Ser) n.2634G>A | |
| 4 | g.5618616A= | CA1435421746 | EVC2 | c.2568T= (p.His856=) c.2328T= (p.His776=) c.*961T= (n.*961T=) c.2577T= (p.His859=) c.2337T= (p.His779=) c.888T= (p.His296=) n.2633T= | |
| 4 | g.5618616A>C | CA356143534 | EVC2 | c.2568T>G (p.His856Gln) c.2328T>G (p.His776Gln) c.*961T>G (n.*961T>G) c.2577T>G (p.His859Gln) c.2337T>G (p.His779Gln) c.888T>G (p.His296Gln) n.2633T>G | |
| 4 | g.5618616A>G | CA2834668 | EVC2 | c.2568T>C (p.His856=) c.2328T>C (p.His776=) c.*961T>C (n.*961T>C) c.2577T>C (p.His859=) c.2337T>C (p.His779=) c.888T>C (p.His296=) n.2633T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618616A>T | CA356143535 | EVC2 | c.2568T>A (p.His856Gln) c.2328T>A (p.His776Gln) c.*961T>A (n.*961T>A) c.2577T>A (p.His859Gln) c.2337T>A (p.His779Gln) c.888T>A (p.His296Gln) n.2633T>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618617T>A | CA356143537 | EVC2 | c.2567A>T (p.His856Leu) c.2327A>T (p.His776Leu) c.*960A>T (n.*960A>T) c.2576A>T (p.His859Leu) c.2336A>T (p.His779Leu) c.887A>T (p.His296Leu) n.2632A>T | |
| 4 | g.5618617T>C | CA2834669 | EVC2 | c.2567A>G (p.His856Arg) c.2327A>G (p.His776Arg) c.*960A>G (n.*960A>G) c.2576A>G (p.His859Arg) c.2336A>G (p.His779Arg) c.887A>G (p.His296Arg) n.2632A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618617T>G | CA356143536 | EVC2 | c.2567A>C (p.His856Pro) c.2327A>C (p.His776Pro) c.*960A>C (n.*960A>C) c.2576A>C (p.His859Pro) c.2336A>C (p.His779Pro) c.887A>C (p.His296Pro) n.2632A>C | |
| 4 | g.5618617T= | CA1435421749 | EVC2 | c.2567A= (p.His856=) c.2327A= (p.His776=) c.*960A= (n.*960A=) c.2576A= (p.His859=) c.2336A= (p.His779=) c.887A= (p.His296=) n.2632A= | |
| 4 | g.5618618G>A | CA356143538 | EVC2 | c.2566C>T (p.His856Tyr) c.2326C>T (p.His776Tyr) c.*959C>T (n.*959C>T) c.2575C>T (p.His859Tyr) c.2335C>T (p.His779Tyr) c.886C>T (p.His296Tyr) n.2631C>T | |
| 4 | g.5618618G>C | CA356143539 | EVC2 | c.2566C>G (p.His856Asp) c.2326C>G (p.His776Asp) c.*959C>G (n.*959C>G) c.2575C>G (p.His859Asp) c.2335C>G (p.His779Asp) c.886C>G (p.His296Asp) n.2631C>G | |
| 4 | g.5618618G>T | CA356143540 | EVC2 | c.2566C>A (p.His856Asn) c.2326C>A (p.His776Asn) c.*959C>A (n.*959C>A) c.2575C>A (p.His859Asn) c.2335C>A (p.His779Asn) c.886C>A (p.His296Asn) n.2631C>A | |
| 4 | g.5618619G>A | CA438203854 | EVC2 | c.2565C>T (p.Val855=) c.2325C>T (p.Val775=) c.*958C>T (n.*958C>T) c.2574C>T (p.Val858=) c.2334C>T (p.Val778=) c.885C>T (p.Val295=) n.2630C>T | |
| 4 | g.5618619G>C | CA438203855 | EVC2 | c.2565C>G (p.Val855=) c.2325C>G (p.Val775=) c.*958C>G (n.*958C>G) c.2574C>G (p.Val858=) c.2334C>G (p.Val778=) c.885C>G (p.Val295=) n.2630C>G | |
| 4 | g.5618619G>T | CA438203856 | EVC2 | c.2565C>A (p.Val855=) c.2325C>A (p.Val775=) c.*958C>A (n.*958C>A) c.2574C>A (p.Val858=) c.2334C>A (p.Val778=) c.885C>A (p.Val295=) n.2630C>A | |
| 4 | g.5618620A= | CA1435421752 | EVC2 | c.2564T= (p.Val855=) c.2324T= (p.Val775=) c.*957T= (n.*957T=) c.2573T= (p.Val858=) c.2333T= (p.Val778=) c.884T= (p.Val295=) n.2629T= | |
| 4 | g.5618620A>C | CA356143541 | EVC2 | c.2564T>G (p.Val855Gly) c.2324T>G (p.Val775Gly) c.*957T>G (n.*957T>G) c.2573T>G (p.Val858Gly) c.2333T>G (p.Val778Gly) c.884T>G (p.Val295Gly) n.2629T>G | |
| 4 | g.5618620A>G | CA356143542 | EVC2 | c.2564T>C (p.Val855Ala) c.2324T>C (p.Val775Ala) c.*957T>C (n.*957T>C) c.2573T>C (p.Val858Ala) c.2333T>C (p.Val778Ala) c.884T>C (p.Val295Ala) n.2629T>C | dbSNP |
| 4 | g.5618620A>T | CA356143543 | EVC2 | c.2564T>A (p.Val855Asp) c.2324T>A (p.Val775Asp) c.*957T>A (n.*957T>A) c.2573T>A (p.Val858Asp) c.2333T>A (p.Val778Asp) c.884T>A (p.Val295Asp) n.2629T>A | |
| 4 | g.5618621C>A | CA356143544 | EVC2 | c.2563G>T (p.Val855Phe) c.2323G>T (p.Val775Phe) c.*956G>T (n.*956G>T) c.2572G>T (p.Val858Phe) c.2332G>T (p.Val778Phe) c.883G>T (p.Val295Phe) n.2628G>T | gnomAD v4 |
| 4 | g.5618621C>G | CA356143545 | EVC2 | c.2563G>C (p.Val855Leu) c.2323G>C (p.Val775Leu) c.*956G>C (n.*956G>C) c.2572G>C (p.Val858Leu) c.2332G>C (p.Val778Leu) c.883G>C (p.Val295Leu) n.2628G>C | |
| 4 | g.5618621C>T | CA356143546 | EVC2 | c.2563G>A (p.Val855Ile) c.2323G>A (p.Val775Ile) c.*956G>A (n.*956G>A) c.2572G>A (p.Val858Ile) c.2332G>A (p.Val778Ile) c.883G>A (p.Val295Ile) n.2628G>A | |
| 4 | g.5618622C>A | CA356143547 | EVC2 | c.2562G>T (p.Glu854Asp) c.2322G>T (p.Glu774Asp) c.*955G>T (n.*955G>T) c.2571G>T (p.Glu857Asp) c.2331G>T (p.Glu777Asp) c.882G>T (p.Glu294Asp) n.2627G>T | |
| 4 | g.5618622C= | CA1435421754 | EVC2 | c.2562G= (p.Glu854=) c.2322G= (p.Glu774=) c.*955G= (n.*955G=) c.2571G= (p.Glu857=) c.2331G= (p.Glu777=) c.882G= (p.Glu294=) n.2627G= | |
| 4 | g.5618622C>G | CA356143548 | EVC2 | c.2562G>C (p.Glu854Asp) c.2322G>C (p.Glu774Asp) c.*955G>C (n.*955G>C) c.2571G>C (p.Glu857Asp) c.2331G>C (p.Glu777Asp) c.882G>C (p.Glu294Asp) n.2627G>C | |
| 4 | g.5618622C>T | CA2834670 | EVC2 | c.2562G>A (p.Glu854=) c.2322G>A (p.Glu774=) c.*955G>A (n.*955G>A) c.2571G>A (p.Glu857=) c.2331G>A (p.Glu777=) c.882G>A (p.Glu294=) n.2627G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.5618623T>A | CA356143551 | EVC2 | c.2561A>T (p.Glu854Val) c.2321A>T (p.Glu774Val) c.*954A>T (n.*954A>T) c.2570A>T (p.Glu857Val) c.2330A>T (p.Glu777Val) c.881A>T (p.Glu294Val) n.2626A>T | |
| 4 | g.5618623T>C | CA356143549 | EVC2 | c.2561A>G (p.Glu854Gly) c.2321A>G (p.Glu774Gly) c.*954A>G (n.*954A>G) c.2570A>G (p.Glu857Gly) c.2330A>G (p.Glu777Gly) c.881A>G (p.Glu294Gly) n.2626A>G | |
| 4 | g.5618623T>G | CA356143550 | EVC2 | c.2561A>C (p.Glu854Ala) c.2321A>C (p.Glu774Ala) c.*954A>C (n.*954A>C) c.2570A>C (p.Glu857Ala) c.2330A>C (p.Glu777Ala) c.881A>C (p.Glu294Ala) n.2626A>C | |
| 4 | g.5618624C>A | CA356143552 | EVC2 | c.2560G>T (p.Glu854Ter) c.2320G>T (p.Glu774Ter) c.*953G>T (n.*953G>T) c.2569G>T (p.Glu857Ter) c.2329G>T (p.Glu777Ter) c.880G>T (p.Glu294Ter) n.2625G>T | gnomAD v4 |
| 4 | g.5618624C>G | CA356143553 | EVC2 | c.2560G>C (p.Glu854Gln) c.2320G>C (p.Glu774Gln) c.*953G>C (n.*953G>C) c.2569G>C (p.Glu857Gln) c.2329G>C (p.Glu777Gln) c.880G>C (p.Glu294Gln) n.2625G>C | |
| 4 | g.5618624C>T | CA356143554 | EVC2 | c.2560G>A (p.Glu854Lys) c.2320G>A (p.Glu774Lys) c.*953G>A (n.*953G>A) c.2569G>A (p.Glu857Lys) c.2329G>A (p.Glu777Lys) c.880G>A (p.Glu294Lys) n.2625G>A | |
| 4 | g.5618625C>A | CA356143555 | EVC2 | c.2559G>T (p.Gln853His) c.2319G>T (p.Gln773His) c.*952G>T (n.*952G>T) c.2568G>T (p.Gln856His) c.2328G>T (p.Gln776His) c.879G>T (p.Gln293His) n.2624G>T | |
| 4 | g.5618625C>G | CA356143556 | EVC2 | c.2559G>C (p.Gln853His) c.2319G>C (p.Gln773His) c.*952G>C (n.*952G>C) c.2568G>C (p.Gln856His) c.2328G>C (p.Gln776His) c.879G>C (p.Gln293His) n.2624G>C | |
| 4 | g.5618625C>T | CA438203857 | EVC2 | c.2559G>A (p.Gln853=) c.2319G>A (p.Gln773=) c.*952G>A (n.*952G>A) c.2568G>A (p.Gln856=) c.2328G>A (p.Gln776=) c.879G>A (p.Gln293=) n.2624G>A | |
| 4 | g.5618626T>A | CA356143557 | EVC2 | c.2558A>T (p.Gln853Leu) c.2318A>T (p.Gln773Leu) c.*951A>T (n.*951A>T) c.2567A>T (p.Gln856Leu) c.2327A>T (p.Gln776Leu) c.878A>T (p.Gln293Leu) n.2623A>T | |
| 4 | g.5618626T>C | CA356143558 | EVC2 | c.2558A>G (p.Gln853Arg) c.2318A>G (p.Gln773Arg) c.*951A>G (n.*951A>G) c.2567A>G (p.Gln856Arg) c.2327A>G (p.Gln776Arg) c.878A>G (p.Gln293Arg) n.2623A>G | |
| 4 | g.5618626T>G | CA356143559 | EVC2 | c.2558A>C (p.Gln853Pro) c.2318A>C (p.Gln773Pro) c.*951A>C (n.*951A>C) c.2567A>C (p.Gln856Pro) c.2327A>C (p.Gln776Pro) c.878A>C (p.Gln293Pro) n.2623A>C | |
| 4 | g.5618627G>A | CA356143560 | EVC2 | c.2557C>T (p.Gln853Ter) c.2317C>T (p.Gln773Ter) c.*950C>T (n.*950C>T) c.2566C>T (p.Gln856Ter) c.2326C>T (p.Gln776Ter) c.877C>T (p.Gln293Ter) n.2622C>T | |
| 4 | g.5618627G>C | CA356143561 | EVC2 | c.2557C>G (p.Gln853Glu) c.2317C>G (p.Gln773Glu) c.*950C>G (n.*950C>G) c.2566C>G (p.Gln856Glu) c.2326C>G (p.Gln776Glu) c.877C>G (p.Gln293Glu) n.2622C>G | |
| 4 | g.5618627G>T | CA356143562 | EVC2 | c.2557C>A (p.Gln853Lys) c.2317C>A (p.Gln773Lys) c.*950C>A (n.*950C>A) c.2566C>A (p.Gln856Lys) c.2326C>A (p.Gln776Lys) c.877C>A (p.Gln293Lys) n.2622C>A | |
| 4 | g.5618628C>A | CA356143564 | EVC2 | c.2556G>T (p.Arg852Ser) c.2316G>T (p.Arg772Ser) c.*949G>T (n.*949G>T) c.2565G>T (p.Arg855Ser) c.2325G>T (p.Arg775Ser) c.876G>T (p.Arg292Ser) n.2621G>T | |
| 4 | g.5618628C= | CA1435421755 | EVC2 | c.2556G= (p.Arg852=) c.2316G= (p.Arg772=) c.*949G= (n.*949G=) c.2565G= (p.Arg855=) c.2325G= (p.Arg775=) c.876G= (p.Arg292=) n.2621G= | |
| 4 | g.5618628C>G | CA356143563 | EVC2 | c.2556G>C (p.Arg852Ser) c.2316G>C (p.Arg772Ser) c.*949G>C (n.*949G>C) c.2565G>C (p.Arg855Ser) c.2325G>C (p.Arg775Ser) c.876G>C (p.Arg292Ser) n.2621G>C | gnomAD v4 |
| 4 | g.5618628C>T | CA2834671 | EVC2 | c.2556G>A (p.Arg852=) c.2316G>A (p.Arg772=) c.*949G>A (n.*949G>A) c.2565G>A (p.Arg855=) c.2325G>A (p.Arg775=) c.876G>A (p.Arg292=) n.2621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618629C>A | CA356143565 | EVC2 | c.2555G>T (p.Arg852Met) c.2315G>T (p.Arg772Met) c.*948G>T (n.*948G>T) c.2564G>T (p.Arg855Met) c.2324G>T (p.Arg775Met) c.875G>T (p.Arg292Met) n.2620G>T | |
| 4 | g.5618629C>G | CA356143567 | EVC2 | c.2555G>C (p.Arg852Thr) c.2315G>C (p.Arg772Thr) c.*948G>C (n.*948G>C) c.2564G>C (p.Arg855Thr) c.2324G>C (p.Arg775Thr) c.875G>C (p.Arg292Thr) n.2620G>C | |
| 4 | g.5618629C>T | CA356143566 | EVC2 | c.2555G>A (p.Arg852Lys) c.2315G>A (p.Arg772Lys) c.*948G>A (n.*948G>A) c.2564G>A (p.Arg855Lys) c.2324G>A (p.Arg775Lys) c.875G>A (p.Arg292Lys) n.2620G>A | |
| 4 | g.5618630T>A | CA91697182 | EVC2 | c.2554A>T (p.Arg852Trp) c.2314A>T (p.Arg772Trp) c.*947A>T (n.*947A>T) c.2563A>T (p.Arg855Trp) c.2323A>T (p.Arg775Trp) c.874A>T (p.Arg292Trp) n.2619A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618630T>C | CA356143568 | EVC2 | c.2554A>G (p.Arg852Gly) c.2314A>G (p.Arg772Gly) c.*947A>G (n.*947A>G) c.2563A>G (p.Arg855Gly) c.2323A>G (p.Arg775Gly) c.874A>G (p.Arg292Gly) n.2619A>G | |
| 4 | g.5618630T>G | CA438203858 | EVC2 | c.2554A>C (p.Arg852=) c.2314A>C (p.Arg772=) c.*947A>C (n.*947A>C) c.2563A>C (p.Arg855=) c.2323A>C (p.Arg775=) c.874A>C (p.Arg292=) n.2619A>C | |
| 4 | g.5618630T= | CA1435421757 | EVC2 | c.2554A= (p.Arg852=) c.2314A= (p.Arg772=) c.*947A= (n.*947A=) c.2563A= (p.Arg855=) c.2323A= (p.Arg775=) c.874A= (p.Arg292=) n.2619A= | |
| 4 | g.5618631C>A | CA356143569 | EVC2 | c.2553G>T (p.Met851Ile) c.2313G>T (p.Met771Ile) c.*946G>T (n.*946G>T) c.2562G>T (p.Met854Ile) c.2322G>T (p.Met774Ile) c.873G>T (p.Met291Ile) n.2618G>T | gnomAD v4 |
| 4 | g.5618631C= | CA1435421758 | EVC2 | c.2553G= (p.Met851=) c.2313G= (p.Met771=) c.*946G= (n.*946G=) c.2562G= (p.Met854=) c.2322G= (p.Met774=) c.873G= (p.Met291=) n.2618G= | |
| 4 | g.5618631C>G | CA356143570 | EVC2 | c.2553G>C (p.Met851Ile) c.2313G>C (p.Met771Ile) c.*946G>C (n.*946G>C) c.2562G>C (p.Met854Ile) c.2322G>C (p.Met774Ile) c.873G>C (p.Met291Ile) n.2618G>C | COSMIC COSMIC |
| 4 | g.5618631C>T | CA91697187 | EVC2 | c.2553G>A (p.Met851Ile) c.2313G>A (p.Met771Ile) c.*946G>A (n.*946G>A) c.2562G>A (p.Met854Ile) c.2322G>A (p.Met774Ile) c.873G>A (p.Met291Ile) n.2618G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618632A>C | CA356143571 | EVC2 | c.2552T>G (p.Met851Arg) c.2312T>G (p.Met771Arg) c.*945T>G (n.*945T>G) c.2561T>G (p.Met854Arg) c.2321T>G (p.Met774Arg) c.872T>G (p.Met291Arg) n.2617T>G | |
| 4 | g.5618632A>G | CA356143572 | EVC2 | c.2552T>C (p.Met851Thr) c.2312T>C (p.Met771Thr) c.*945T>C (n.*945T>C) c.2561T>C (p.Met854Thr) c.2321T>C (p.Met774Thr) c.872T>C (p.Met291Thr) n.2617T>C | |
| 4 | g.5618632A>T | CA356143573 | EVC2 | c.2552T>A (p.Met851Lys) c.2312T>A (p.Met771Lys) c.*945T>A (n.*945T>A) c.2561T>A (p.Met854Lys) c.2321T>A (p.Met774Lys) c.872T>A (p.Met291Lys) n.2617T>A | |
| 4 | g.5618633T>A | CA356143574 | EVC2 | c.2551A>T (p.Met851Leu) c.2311A>T (p.Met771Leu) c.*944A>T (n.*944A>T) c.2560A>T (p.Met854Leu) c.2320A>T (p.Met774Leu) c.871A>T (p.Met291Leu) n.2616A>T | |
| 4 | g.5618633T>C | CA2834672 | EVC2 | c.2551A>G (p.Met851Val) c.2311A>G (p.Met771Val) c.*944A>G (n.*944A>G) c.2560A>G (p.Met854Val) c.2320A>G (p.Met774Val) c.871A>G (p.Met291Val) n.2616A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618633T>G | CA356143575 | EVC2 | c.2551A>C (p.Met851Leu) c.2311A>C (p.Met771Leu) c.*944A>C (n.*944A>C) c.2560A>C (p.Met854Leu) c.2320A>C (p.Met774Leu) c.871A>C (p.Met291Leu) n.2616A>C | |
| 4 | g.5618633T= | CA1435421763 | EVC2 | c.2551A= (p.Met851=) c.2311A= (p.Met771=) c.*944A= (n.*944A=) c.2560A= (p.Met854=) c.2320A= (p.Met774=) c.871A= (p.Met291=) n.2616A= | |
| 4 | g.5618634C>A | CA356143577 | EVC2 | c.2550G>T (p.Arg850Ser) c.2310G>T (p.Arg770Ser) c.*943G>T (n.*943G>T) c.2559G>T (p.Arg853Ser) c.2319G>T (p.Arg773Ser) c.870G>T (p.Arg290Ser) n.2615G>T | |
| 4 | g.5618634C>G | CA356143576 | EVC2 | c.2550G>C (p.Arg850Ser) c.2310G>C (p.Arg770Ser) c.*943G>C (n.*943G>C) c.2559G>C (p.Arg853Ser) c.2319G>C (p.Arg773Ser) c.870G>C (p.Arg290Ser) n.2615G>C | |
| 4 | g.5618634C>T | CA438203859 | EVC2 | c.2550G>A (p.Arg850=) c.2310G>A (p.Arg770=) c.*943G>A (n.*943G>A) c.2559G>A (p.Arg853=) c.2319G>A (p.Arg773=) c.870G>A (p.Arg290=) n.2615G>A | |
| 4 | g.5618635C>A | CA356143578 | EVC2 | c.2549G>T (p.Arg850Met) c.2309G>T (p.Arg770Met) c.*942G>T (n.*942G>T) c.2558G>T (p.Arg853Met) c.2318G>T (p.Arg773Met) c.869G>T (p.Arg290Met) n.2614G>T | |
| 4 | g.5618635C= | CA1435421767 | EVC2 | c.2549G= (p.Arg850=) c.2309G= (p.Arg770=) c.*942G= (n.*942G=) c.2558G= (p.Arg853=) c.2318G= (p.Arg773=) c.869G= (p.Arg290=) n.2614G= | |
| 4 | g.5618635C>G | CA356143579 | EVC2 | c.2549G>C (p.Arg850Thr) c.2309G>C (p.Arg770Thr) c.*942G>C (n.*942G>C) c.2558G>C (p.Arg853Thr) c.2318G>C (p.Arg773Thr) c.869G>C (p.Arg290Thr) n.2614G>C | |
| 4 | g.5618635C>T | CA356143580 | EVC2 | c.2549G>A (p.Arg850Lys) c.2309G>A (p.Arg770Lys) c.*942G>A (n.*942G>A) c.2558G>A (p.Arg853Lys) c.2318G>A (p.Arg773Lys) c.869G>A (p.Arg290Lys) n.2614G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.5618636_5618645del | CA2740091126 | EVC2 | c.2540_2549del (p.Glu847GlyfsTer2) c.2300_2309del (p.Glu767GlyfsTer2) c.*933_*942del (n.*933_*942del) c.2549_2558del (p.Glu850GlyfsTer2) c.2309_2318del (p.Glu770GlyfsTer2) c.860_869del (p.Glu287GlyfsTer2) n.2605_2614del | ClinVar |
| 4 | g.5618636T>A | CA356143581 | EVC2 | c.2548A>T (p.Arg850Trp) c.2308A>T (p.Arg770Trp) c.*941A>T (n.*941A>T) c.2557A>T (p.Arg853Trp) c.2317A>T (p.Arg773Trp) c.868A>T (p.Arg290Trp) n.2613A>T | |
| 4 | g.5618636T>C | CA356143582 | EVC2 | c.2548A>G (p.Arg850Gly) c.2308A>G (p.Arg770Gly) c.*941A>G (n.*941A>G) c.2557A>G (p.Arg853Gly) c.2317A>G (p.Arg773Gly) c.868A>G (p.Arg290Gly) n.2613A>G | |
| 4 | g.5618636T>G | CA438203860 | EVC2 | c.2548A>C (p.Arg850=) c.2308A>C (p.Arg770=) c.*941A>C (n.*941A>C) c.2557A>C (p.Arg853=) c.2317A>C (p.Arg773=) c.868A>C (p.Arg290=) n.2613A>C | |
| 4 | g.5618637G>A | CA438203863 | EVC2 | c.2547C>T (p.Leu849=) c.2307C>T (p.Leu769=) c.*940C>T (n.*940C>T) c.2556C>T (p.Leu852=) c.2316C>T (p.Leu772=) c.867C>T (p.Leu289=) n.2612C>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618637G>C | CA438203861 | EVC2 | c.2547C>G (p.Leu849=) c.2307C>G (p.Leu769=) c.*940C>G (n.*940C>G) c.2556C>G (p.Leu852=) c.2316C>G (p.Leu772=) c.867C>G (p.Leu289=) n.2612C>G | |
| 4 | g.5618637G= | CA1435421769 | EVC2 | c.2547C= (p.Leu849=) c.2307C= (p.Leu769=) c.*940C= (n.*940C=) c.2556C= (p.Leu852=) c.2316C= (p.Leu772=) c.867C= (p.Leu289=) n.2612C= | |
| 4 | g.5618637G>T | CA438203862 | EVC2 | c.2547C>A (p.Leu849=) c.2307C>A (p.Leu769=) c.*940C>A (n.*940C>A) c.2556C>A (p.Leu852=) c.2316C>A (p.Leu772=) c.867C>A (p.Leu289=) n.2612C>A | gnomAD v4 |
| 4 | g.5618638A>C | CA356143583 | EVC2 | c.2546T>G (p.Leu849Arg) c.2306T>G (p.Leu769Arg) c.*939T>G (n.*939T>G) c.2555T>G (p.Leu852Arg) c.2315T>G (p.Leu772Arg) c.866T>G (p.Leu289Arg) n.2611T>G | |
| 4 | g.5618638A>G | CA356143584 | EVC2 | c.2546T>C (p.Leu849Pro) c.2306T>C (p.Leu769Pro) c.*939T>C (n.*939T>C) c.2555T>C (p.Leu852Pro) c.2315T>C (p.Leu772Pro) c.866T>C (p.Leu289Pro) n.2611T>C | |
| 4 | g.5618638A>T | CA356143585 | EVC2 | c.2546T>A (p.Leu849His) c.2306T>A (p.Leu769His) c.*939T>A (n.*939T>A) c.2555T>A (p.Leu852His) c.2315T>A (p.Leu772His) c.866T>A (p.Leu289His) n.2611T>A | |
| 4 | g.5618639G>A | CA2834673 | EVC2 | c.2545C>T (p.Leu849Phe) c.2305C>T (p.Leu769Phe) c.*938C>T (n.*938C>T) c.2554C>T (p.Leu852Phe) c.2314C>T (p.Leu772Phe) c.865C>T (p.Leu289Phe) n.2610C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618639G>C | CA356143586 | EVC2 | c.2545C>G (p.Leu849Val) c.2305C>G (p.Leu769Val) c.*938C>G (n.*938C>G) c.2554C>G (p.Leu852Val) c.2314C>G (p.Leu772Val) c.865C>G (p.Leu289Val) n.2610C>G | |
| 4 | g.5618639G= | CA1435421771 | EVC2 | c.2545C= (p.Leu849=) c.2305C= (p.Leu769=) c.*938C= (n.*938C=) c.2554C= (p.Leu852=) c.2314C= (p.Leu772=) c.865C= (p.Leu289=) n.2610C= | |
| 4 | g.5618639G>T | CA356143587 | EVC2 | c.2545C>A (p.Leu849Ile) c.2305C>A (p.Leu769Ile) c.*938C>A (n.*938C>A) c.2554C>A (p.Leu852Ile) c.2314C>A (p.Leu772Ile) c.865C>A (p.Leu289Ile) n.2610C>A | |
| 4 | g.5618640C>A | CA438203864 | EVC2 | c.2544G>T (p.Leu848=) c.2304G>T (p.Leu768=) c.*937G>T (n.*937G>T) c.2553G>T (p.Leu851=) c.2313G>T (p.Leu771=) c.864G>T (p.Leu288=) n.2609G>T | dbSNP |
| 4 | g.5618640C= | CA1435421772 | EVC2 | c.2544G= (p.Leu848=) c.2304G= (p.Leu768=) c.*937G= (n.*937G=) c.2553G= (p.Leu851=) c.2313G= (p.Leu771=) c.864G= (p.Leu288=) n.2609G= | |
| 4 | g.5618640C>G | CA438203865 | EVC2 | c.2544G>C (p.Leu848=) c.2304G>C (p.Leu768=) c.*937G>C (n.*937G>C) c.2553G>C (p.Leu851=) c.2313G>C (p.Leu771=) c.864G>C (p.Leu288=) n.2609G>C | ClinVar dbSNP |
| 4 | g.5618640C>T | CA2834674 | EVC2 | c.2544G>A (p.Leu848=) c.2304G>A (p.Leu768=) c.*937G>A (n.*937G>A) c.2553G>A (p.Leu851=) c.2313G>A (p.Leu771=) c.864G>A (p.Leu288=) n.2609G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618641A>C | CA356143589 | EVC2 | c.2543T>G (p.Leu848Arg) c.2303T>G (p.Leu768Arg) c.*936T>G (n.*936T>G) c.2552T>G (p.Leu851Arg) c.2312T>G (p.Leu771Arg) c.863T>G (p.Leu288Arg) n.2608T>G | |
| 4 | g.5618641A>G | CA356143590 | EVC2 | c.2543T>C (p.Leu848Pro) c.2303T>C (p.Leu768Pro) c.*936T>C (n.*936T>C) c.2552T>C (p.Leu851Pro) c.2312T>C (p.Leu771Pro) c.863T>C (p.Leu288Pro) n.2608T>C | |
| 4 | g.5618641A>T | CA356143588 | EVC2 | c.2543T>A (p.Leu848Gln) c.2303T>A (p.Leu768Gln) c.*936T>A (n.*936T>A) c.2552T>A (p.Leu851Gln) c.2312T>A (p.Leu771Gln) c.863T>A (p.Leu288Gln) n.2608T>A | |
| 4 | g.5618642G>A | CA438203866 | EVC2 | c.2542C>T (p.Leu848=) c.2302C>T (p.Leu768=) c.*935C>T (n.*935C>T) c.2551C>T (p.Leu851=) c.2311C>T (p.Leu771=) c.862C>T (p.Leu288=) n.2607C>T | ClinVar gnomAD v4 |
| 4 | g.5618642G>C | CA356143591 | EVC2 | c.2542C>G (p.Leu848Val) c.2302C>G (p.Leu768Val) c.*935C>G (n.*935C>G) c.2551C>G (p.Leu851Val) c.2311C>G (p.Leu771Val) c.862C>G (p.Leu288Val) n.2607C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.5618642G= | CA1435421775 | EVC2 | c.2542C= (p.Leu848=) c.2302C= (p.Leu768=) c.*935C= (n.*935C=) c.2551C= (p.Leu851=) c.2311C= (p.Leu771=) c.862C= (p.Leu288=) n.2607C= | |
| 4 | g.5618642G>T | CA356143592 | EVC2 | c.2542C>A (p.Leu848Met) c.2302C>A (p.Leu768Met) c.*935C>A (n.*935C>A) c.2551C>A (p.Leu851Met) c.2311C>A (p.Leu771Met) c.862C>A (p.Leu288Met) n.2607C>A | |
| 4 | g.5618643C>A | CA356143593 | EVC2 | c.2541G>T (p.Glu847Asp) c.2301G>T (p.Glu767Asp) c.*934G>T (n.*934G>T) c.2550G>T (p.Glu850Asp) c.2310G>T (p.Glu770Asp) c.861G>T (p.Glu287Asp) n.2606G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618643C= | CA1435421776 | EVC2 | c.2541G= (p.Glu847=) c.2301G= (p.Glu767=) c.*934G= (n.*934G=) c.2550G= (p.Glu850=) c.2310G= (p.Glu770=) c.861G= (p.Glu287=) n.2606G= | |
| 4 | g.5618643C>G | CA356143594 | EVC2 | c.2541G>C (p.Glu847Asp) c.2301G>C (p.Glu767Asp) c.*934G>C (n.*934G>C) c.2550G>C (p.Glu850Asp) c.2310G>C (p.Glu770Asp) c.861G>C (p.Glu287Asp) n.2606G>C | |
| 4 | g.5618643C>T | CA438203867 | EVC2 | c.2541G>A (p.Glu847=) c.2301G>A (p.Glu767=) c.*934G>A (n.*934G>A) c.2550G>A (p.Glu850=) c.2310G>A (p.Glu770=) c.861G>A (p.Glu287=) n.2606G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618644T>A | CA356143595 | EVC2 | c.2540A>T (p.Glu847Val) c.2300A>T (p.Glu767Val) c.*933A>T (n.*933A>T) c.2549A>T (p.Glu850Val) c.2309A>T (p.Glu770Val) c.860A>T (p.Glu287Val) n.2605A>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618644T>C | CA356143596 | EVC2 | c.2540A>G (p.Glu847Gly) c.2300A>G (p.Glu767Gly) c.*933A>G (n.*933A>G) c.2549A>G (p.Glu850Gly) c.2309A>G (p.Glu770Gly) c.860A>G (p.Glu287Gly) n.2605A>G | |
| 4 | g.5618644T>G | CA356143597 | EVC2 | c.2540A>C (p.Glu847Ala) c.2300A>C (p.Glu767Ala) c.*933A>C (n.*933A>C) c.2549A>C (p.Glu850Ala) c.2309A>C (p.Glu770Ala) c.860A>C (p.Glu287Ala) n.2605A>C | |
| 4 | g.5618644T= | CA1435421778 | EVC2 | c.2540A= (p.Glu847=) c.2300A= (p.Glu767=) c.*933A= (n.*933A=) c.2549A= (p.Glu850=) c.2309A= (p.Glu770=) c.860A= (p.Glu287=) n.2605A= | |
| 4 | g.5618645C>A | CA356143598 | EVC2 | c.2539G>T (p.Glu847Ter) c.2299G>T (p.Glu767Ter) c.*932G>T (n.*932G>T) c.2548G>T (p.Glu850Ter) c.2308G>T (p.Glu770Ter) c.859G>T (p.Glu287Ter) n.2604G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.5618645C= | CA1435421779 | EVC2 | c.2539G= (p.Glu847=) c.2299G= (p.Glu767=) c.*932G= (n.*932G=) c.2548G= (p.Glu850=) c.2308G= (p.Glu770=) c.859G= (p.Glu287=) n.2604G= | |
| 4 | g.5618645C>G | CA356143599 | EVC2 | c.2539G>C (p.Glu847Gln) c.2299G>C (p.Glu767Gln) c.*932G>C (n.*932G>C) c.2548G>C (p.Glu850Gln) c.2308G>C (p.Glu770Gln) c.859G>C (p.Glu287Gln) n.2604G>C | |
| 4 | g.5618645C>T | CA356143600 | EVC2 | c.2539G>A (p.Glu847Lys) c.2299G>A (p.Glu767Lys) c.*932G>A (n.*932G>A) c.2548G>A (p.Glu850Lys) c.2308G>A (p.Glu770Lys) c.859G>A (p.Glu287Lys) n.2604G>A | dbSNP gnomAD v4 |
| 4 | g.5618646C>A | CA356143601 | EVC2 | c.2538G>T (p.Glu846Asp) c.2298G>T (p.Glu766Asp) c.*931G>T (n.*931G>T) c.2547G>T (p.Glu849Asp) c.2307G>T (p.Glu769Asp) c.858G>T (p.Glu286Asp) n.2603G>T | |
| 4 | g.5618646C= | CA1435421781 | EVC2 | c.2538G= (p.Glu846=) c.2298G= (p.Glu766=) c.*931G= (n.*931G=) c.2547G= (p.Glu849=) c.2307G= (p.Glu769=) c.858G= (p.Glu286=) n.2603G= | |
| 4 | g.5618646C>G | CA356143602 | EVC2 | c.2538G>C (p.Glu846Asp) c.2298G>C (p.Glu766Asp) c.*931G>C (n.*931G>C) c.2547G>C (p.Glu849Asp) c.2307G>C (p.Glu769Asp) c.858G>C (p.Glu286Asp) n.2603G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.5618646C>T | CA438203868 | EVC2 | c.2538G>A (p.Glu846=) c.2298G>A (p.Glu766=) c.*931G>A (n.*931G>A) c.2547G>A (p.Glu849=) c.2307G>A (p.Glu769=) c.858G>A (p.Glu286=) n.2603G>A | gnomAD v4 |
| 4 | g.5618647T>A | CA356143604 | EVC2 | c.2537A>T (p.Glu846Val) c.2297A>T (p.Glu766Val) c.*930A>T (n.*930A>T) c.2546A>T (p.Glu849Val) c.2306A>T (p.Glu769Val) c.857A>T (p.Glu286Val) n.2602A>T | |
| 4 | g.5618647T>C | CA356143605 | EVC2 | c.2537A>G (p.Glu846Gly) c.2297A>G (p.Glu766Gly) c.*930A>G (n.*930A>G) c.2546A>G (p.Glu849Gly) c.2306A>G (p.Glu769Gly) c.857A>G (p.Glu286Gly) n.2602A>G | |
| 4 | g.5618647T>G | CA356143603 | EVC2 | c.2537A>C (p.Glu846Ala) c.2297A>C (p.Glu766Ala) c.*930A>C (n.*930A>C) c.2546A>C (p.Glu849Ala) c.2306A>C (p.Glu769Ala) c.857A>C (p.Glu286Ala) n.2602A>C | |
| 4 | g.5618647_5618648delinsTC | CA1435421783 | EVC2 | c.2536_2537delinsGA (p.Glu846=) c.2296_2297delinsGA (p.Glu766=) c.*929_*930delinsGA (n.*929_*930delinsGA) c.2545_2546delinsGA (p.Glu849=) c.2305_2306delinsGA (p.Glu769=) c.856_857delinsGA (p.Glu286=) n.2601_2602delinsGA | |
| 4 | g.5618648del | CA1435421784 | EVC2 | c.2536del (p.Glu846ArgfsTer6) c.2296del (p.Glu766ArgfsTer6) c.*929del (n.*929del) c.2545del (p.Glu849ArgfsTer6) c.2305del (p.Glu769ArgfsTer6) c.856del (p.Glu286ArgfsTer6) n.2601del | dbSNP gnomAD v4 |
| 4 | g.5618648C>A | CA356143606 | EVC2 | c.2536G>T (p.Glu846Ter) c.2296G>T (p.Glu766Ter) c.*929G>T (n.*929G>T) c.2545G>T (p.Glu849Ter) c.2305G>T (p.Glu769Ter) c.856G>T (p.Glu286Ter) n.2601G>T | |
| 4 | g.5618648C>G | CA356143607 | EVC2 | c.2536G>C (p.Glu846Gln) c.2296G>C (p.Glu766Gln) c.*929G>C (n.*929G>C) c.2545G>C (p.Glu849Gln) c.2305G>C (p.Glu769Gln) c.856G>C (p.Glu286Gln) n.2601G>C | |
| 4 | g.5618648C>T | CA356143608 | EVC2 | c.2536G>A (p.Glu846Lys) c.2296G>A (p.Glu766Lys) c.*929G>A (n.*929G>A) c.2545G>A (p.Glu849Lys) c.2305G>A (p.Glu769Lys) c.856G>A (p.Glu286Lys) n.2601G>A | |
| 4 | g.5618648_5618660del | CA2573138250 | EVC2 | c.2524_2536del (p.Ser842ArgfsTer6) c.2284_2296del (p.Ser762ArgfsTer6) c.*917_*929del (n.*917_*929del) c.2533_2545del (p.Ser845ArgfsTer6) c.2293_2305del (p.Ser765ArgfsTer6) c.844_856del (p.Ser282ArgfsTer6) n.2589_2601del | ClinVar dbSNP |
| 4 | g.5618649T>A | CA356143609 | EVC2 | c.2535A>T (p.Glu845Asp) c.2295A>T (p.Glu765Asp) c.*928A>T (n.*928A>T) c.2544A>T (p.Glu848Asp) c.2304A>T (p.Glu768Asp) c.855A>T (p.Glu285Asp) n.2600A>T | |
| 4 | g.5618649T>C | CA438203869 | EVC2 | c.2535A>G (p.Glu845=) c.2295A>G (p.Glu765=) c.*928A>G (n.*928A>G) c.2544A>G (p.Glu848=) c.2304A>G (p.Glu768=) c.855A>G (p.Glu285=) n.2600A>G | ClinVar dbSNP |
| 4 | g.5618649T>G | CA356143610 | EVC2 | c.2535A>C (p.Glu845Asp) c.2295A>C (p.Glu765Asp) c.*928A>C (n.*928A>C) c.2544A>C (p.Glu848Asp) c.2304A>C (p.Glu768Asp) c.855A>C (p.Glu285Asp) n.2600A>C | gnomAD v4 |
| 4 | g.5618649T= | CA1435421786 | EVC2 | c.2535A= (p.Glu845=) c.2295A= (p.Glu765=) c.*928A= (n.*928A=) c.2544A= (p.Glu848=) c.2304A= (p.Glu768=) c.855A= (p.Glu285=) n.2600A= | |
| 4 | g.5618649_5618661delinsTTCAGACAGGGAG | CA1435421787 | EVC2 | c.2523_2535delinsCTCCCTGTCTGAA (p.Phe841=) c.2283_2295delinsCTCCCTGTCTGAA (p.Phe761=) c.*916_*928delinsCTCCCTGTCTGAA (n.*916_*928delinsCTCCCTGTCTGAA) c.2532_2544delinsCTCCCTGTCTGAA (p.Phe844=) c.2292_2304delinsCTCCCTGTCTGAA (p.Phe764=) c.843_855delinsCTCCCTGTCTGAA (p.Phe281=) n.2588_2600delinsCTCCCTGTCTGAA | |
| 4 | g.5618650T>A | CA356143613 | EVC2 | c.2534A>T (p.Glu845Val) c.2294A>T (p.Glu765Val) c.*927A>T (n.*927A>T) c.2543A>T (p.Glu848Val) c.2303A>T (p.Glu768Val) c.854A>T (p.Glu285Val) n.2599A>T | |
| 4 | g.5618650T>C | CA356143612 | EVC2 | c.2534A>G (p.Glu845Gly) c.2294A>G (p.Glu765Gly) c.*927A>G (n.*927A>G) c.2543A>G (p.Glu848Gly) c.2303A>G (p.Glu768Gly) c.854A>G (p.Glu285Gly) n.2599A>G | |
| 4 | g.5618650T>G | CA356143611 | EVC2 | c.2534A>C (p.Glu845Ala) c.2294A>C (p.Glu765Ala) c.*927A>C (n.*927A>C) c.2543A>C (p.Glu848Ala) c.2303A>C (p.Glu768Ala) c.854A>C (p.Glu285Ala) n.2599A>C | |
| 4 | g.5618650_5618661del | CA1435421789 | EVC2 | c.2523_2534del (p.Phe841_Glu845delinsLeu) c.2283_2294del (p.Phe761_Glu765delinsLeu) c.*916_*927del (n.*916_*927del) c.2532_2543del (p.Phe844_Glu848delinsLeu) c.2292_2303del (p.Phe764_Glu768delinsLeu) c.843_854del (p.Phe281_Glu285delinsLeu) n.2588_2599del | dbSNP gnomAD v4 |
| 4 | g.5618651C>A | CA2834675 | EVC2 | c.2533G>T (p.Glu845Ter) c.2293G>T (p.Glu765Ter) c.*926G>T (n.*926G>T) c.2542G>T (p.Glu848Ter) c.2302G>T (p.Glu768Ter) c.853G>T (p.Glu285Ter) n.2598G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.5618651C= | CA1435421790 | EVC2 | c.2533G= (p.Glu845=) c.2293G= (p.Glu765=) c.*926G= (n.*926G=) c.2542G= (p.Glu848=) c.2302G= (p.Glu768=) c.853G= (p.Glu285=) n.2598G= | |
| 4 | g.5618651C>G | CA91697258 | EVC2 | c.2533G>C (p.Glu845Gln) c.2293G>C (p.Glu765Gln) c.*926G>C (n.*926G>C) c.2542G>C (p.Glu848Gln) c.2302G>C (p.Glu768Gln) c.853G>C (p.Glu285Gln) n.2598G>C | dbSNP |
| 4 | g.5618651C>T | CA356143614 | EVC2 | c.2533G>A (p.Glu845Lys) c.2293G>A (p.Glu765Lys) c.*926G>A (n.*926G>A) c.2542G>A (p.Glu848Lys) c.2302G>A (p.Glu768Lys) c.853G>A (p.Glu285Lys) n.2598G>A | COSMIC COSMIC |
| 4 | g.5618652A>C | CA438203870 | EVC2 | c.2532T>G (p.Ser844=) c.2292T>G (p.Ser764=) c.*925T>G (n.*925T>G) c.2541T>G (p.Ser847=) c.2301T>G (p.Ser767=) c.852T>G (p.Ser284=) n.2597T>G | |
| 4 | g.5618652A>G | CA438203871 | EVC2 | c.2532T>C (p.Ser844=) c.2292T>C (p.Ser764=) c.*925T>C (n.*925T>C) c.2541T>C (p.Ser847=) c.2301T>C (p.Ser767=) c.852T>C (p.Ser284=) n.2597T>C | |
| 4 | g.5618652A>T | CA438203872 | EVC2 | c.2532T>A (p.Ser844=) c.2292T>A (p.Ser764=) c.*925T>A (n.*925T>A) c.2541T>A (p.Ser847=) c.2301T>A (p.Ser767=) c.852T>A (p.Ser284=) n.2597T>A |