Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137800893G>A | CA375788737 | EHMT1 | c.2621G>A (p.Trp874Ter) c.2507G>A (p.Trp836Ter) c.2528G>A (p.Trp843Ter) c.2661G>A (n.2661G>A) c.515G>A (p.Trp172Ter) c.299G>A (p.Trp100Ter) c.1478G>A (p.Trp493Ter) c.191G>A (p.Trp64Ter) c.199G>A n.147G>A c.2612G>A (p.Trp871Ter) c.2603G>A (p.Trp868Ter) c.2630G>A (p.Trp877Ter) c.2627G>A (p.Trp876Ter) c.2609G>A (p.Trp870Ter) c.2552G>A (p.Trp851Ter) c.2486G>A (p.Trp829Ter) c.1052G>A (p.Trp351Ter) c.404G>A (p.Trp135Ter) c.2465G>A (p.Trp822Ter) c.2600G>A (p.Trp867Ter) c.2606G>A (p.Trp869Ter) c.2522G>A (p.Trp841Ter) c.2450G>A (p.Trp817Ter) c.2384G>A (p.Trp795Ter) c.1745G>A (p.Trp582Ter) c.2363G>A (p.Trp788Ter) | |
9 | g.137800893G>C | CA375788738 | EHMT1 | c.2621G>C (p.Trp874Ser) c.2507G>C (p.Trp836Ser) c.2528G>C (p.Trp843Ser) c.2661G>C (n.2661G>C) c.515G>C (p.Trp172Ser) c.299G>C (p.Trp100Ser) c.1478G>C (p.Trp493Ser) c.191G>C (p.Trp64Ser) c.199G>C n.147G>C c.2612G>C (p.Trp871Ser) c.2603G>C (p.Trp868Ser) c.2630G>C (p.Trp877Ser) c.2627G>C (p.Trp876Ser) c.2609G>C (p.Trp870Ser) c.2552G>C (p.Trp851Ser) c.2486G>C (p.Trp829Ser) c.1052G>C (p.Trp351Ser) c.404G>C (p.Trp135Ser) c.2465G>C (p.Trp822Ser) c.2600G>C (p.Trp867Ser) c.2606G>C (p.Trp869Ser) c.2522G>C (p.Trp841Ser) c.2450G>C (p.Trp817Ser) c.2384G>C (p.Trp795Ser) c.1745G>C (p.Trp582Ser) c.2363G>C (p.Trp788Ser) | |
9 | g.137800893G>T | CA375788740 | EHMT1 | c.2621G>T (p.Trp874Leu) c.2507G>T (p.Trp836Leu) c.2528G>T (p.Trp843Leu) c.2661G>T (n.2661G>T) c.515G>T (p.Trp172Leu) c.299G>T (p.Trp100Leu) c.1478G>T (p.Trp493Leu) c.191G>T (p.Trp64Leu) c.199G>T n.147G>T c.2612G>T (p.Trp871Leu) c.2603G>T (p.Trp868Leu) c.2630G>T (p.Trp877Leu) c.2627G>T (p.Trp876Leu) c.2609G>T (p.Trp870Leu) c.2552G>T (p.Trp851Leu) c.2486G>T (p.Trp829Leu) c.1052G>T (p.Trp351Leu) c.404G>T (p.Trp135Leu) c.2465G>T (p.Trp822Leu) c.2600G>T (p.Trp867Leu) c.2606G>T (p.Trp869Leu) c.2522G>T (p.Trp841Leu) c.2450G>T (p.Trp817Leu) c.2384G>T (p.Trp795Leu) c.1745G>T (p.Trp582Leu) c.2363G>T (p.Trp788Leu) | gnomAD v4 |
9 | g.137800894G>A | CA16605814 | EHMT1 | c.2622G>A (p.Trp874Ter) c.2508G>A (p.Trp836Ter) c.2529G>A (p.Trp843Ter) c.2662G>A (n.2662G>A) c.516G>A (p.Trp172Ter) c.300G>A (p.Trp100Ter) c.1479G>A (p.Trp493Ter) c.192G>A (p.Trp64Ter) c.200G>A n.148G>A c.2613G>A (p.Trp871Ter) c.2604G>A (p.Trp868Ter) c.2631G>A (p.Trp877Ter) c.2628G>A (p.Trp876Ter) c.2610G>A (p.Trp870Ter) c.2553G>A (p.Trp851Ter) c.2487G>A (p.Trp829Ter) c.1053G>A (p.Trp351Ter) c.405G>A (p.Trp135Ter) c.2466G>A (p.Trp822Ter) c.2601G>A (p.Trp867Ter) c.2607G>A (p.Trp869Ter) c.2523G>A (p.Trp841Ter) c.2451G>A (p.Trp817Ter) c.2385G>A (p.Trp795Ter) c.1746G>A (p.Trp582Ter) c.2364G>A (p.Trp788Ter) | ClinVar dbSNP |
9 | g.137800894G>C | CA375788743 | EHMT1 | c.2622G>C (p.Trp874Cys) c.2508G>C (p.Trp836Cys) c.2529G>C (p.Trp843Cys) c.2662G>C (n.2662G>C) c.516G>C (p.Trp172Cys) c.300G>C (p.Trp100Cys) c.1479G>C (p.Trp493Cys) c.192G>C (p.Trp64Cys) c.200G>C n.148G>C c.2613G>C (p.Trp871Cys) c.2604G>C (p.Trp868Cys) c.2631G>C (p.Trp877Cys) c.2628G>C (p.Trp876Cys) c.2610G>C (p.Trp870Cys) c.2553G>C (p.Trp851Cys) c.2487G>C (p.Trp829Cys) c.1053G>C (p.Trp351Cys) c.405G>C (p.Trp135Cys) c.2466G>C (p.Trp822Cys) c.2601G>C (p.Trp867Cys) c.2607G>C (p.Trp869Cys) c.2523G>C (p.Trp841Cys) c.2451G>C (p.Trp817Cys) c.2385G>C (p.Trp795Cys) c.1746G>C (p.Trp582Cys) c.2364G>C (p.Trp788Cys) | |
9 | g.137800894G= | CA1884679266 | EHMT1 | c.2622G= (p.Trp874=) c.2508G= (p.Trp836=) c.2529G= (p.Trp843=) c.2662G= (n.2662G=) c.516G= (p.Trp172=) c.300G= (p.Trp100=) c.1479G= (p.Trp493=) c.192G= (p.Trp64=) c.200G= n.148G= c.2613G= (p.Trp871=) c.2604G= (p.Trp868=) c.2631G= (p.Trp877=) c.2628G= (p.Trp876=) c.2610G= (p.Trp870=) c.2553G= (p.Trp851=) c.2487G= (p.Trp829=) c.1053G= (p.Trp351=) c.405G= (p.Trp135=) c.2466G= (p.Trp822=) c.2601G= (p.Trp867=) c.2607G= (p.Trp869=) c.2523G= (p.Trp841=) c.2451G= (p.Trp817=) c.2385G= (p.Trp795=) c.1746G= (p.Trp582=) c.2364G= (p.Trp788=) | |
9 | g.137800894G>T | CA375788744 | EHMT1 | c.2622G>T (p.Trp874Cys) c.2508G>T (p.Trp836Cys) c.2529G>T (p.Trp843Cys) c.2662G>T (n.2662G>T) c.516G>T (p.Trp172Cys) c.300G>T (p.Trp100Cys) c.1479G>T (p.Trp493Cys) c.192G>T (p.Trp64Cys) c.200G>T n.148G>T c.2613G>T (p.Trp871Cys) c.2604G>T (p.Trp868Cys) c.2631G>T (p.Trp877Cys) c.2628G>T (p.Trp876Cys) c.2610G>T (p.Trp870Cys) c.2553G>T (p.Trp851Cys) c.2487G>T (p.Trp829Cys) c.1053G>T (p.Trp351Cys) c.405G>T (p.Trp135Cys) c.2466G>T (p.Trp822Cys) c.2601G>T (p.Trp867Cys) c.2607G>T (p.Trp869Cys) c.2523G>T (p.Trp841Cys) c.2451G>T (p.Trp817Cys) c.2385G>T (p.Trp795Cys) c.1746G>T (p.Trp582Cys) c.2364G>T (p.Trp788Cys) | |
9 | g.137800895A>C | CA375788745 | EHMT1 | c.2623A>C (p.Thr875Pro) c.2509A>C (p.Thr837Pro) c.2530A>C (p.Thr844Pro) c.2663A>C (n.2663A>C) c.517A>C (p.Thr173Pro) c.301A>C (p.Thr101Pro) c.1480A>C (p.Thr494Pro) c.193A>C (p.Thr65Pro) c.201A>C n.149A>C c.2614A>C (p.Thr872Pro) c.2605A>C (p.Thr869Pro) c.2632A>C (p.Thr878Pro) c.2629A>C (p.Thr877Pro) c.2611A>C (p.Thr871Pro) c.2554A>C (p.Thr852Pro) c.2488A>C (p.Thr830Pro) c.1054A>C (p.Thr352Pro) c.406A>C (p.Thr136Pro) c.2467A>C (p.Thr823Pro) c.2602A>C (p.Thr868Pro) c.2608A>C (p.Thr870Pro) c.2524A>C (p.Thr842Pro) c.2452A>C (p.Thr818Pro) c.2386A>C (p.Thr796Pro) c.1747A>C (p.Thr583Pro) c.2365A>C (p.Thr789Pro) | |
9 | g.137800895A>G | CA375788746 | EHMT1 | c.2623A>G (p.Thr875Ala) c.2509A>G (p.Thr837Ala) c.2530A>G (p.Thr844Ala) c.2663A>G (n.2663A>G) c.517A>G (p.Thr173Ala) c.301A>G (p.Thr101Ala) c.1480A>G (p.Thr494Ala) c.193A>G (p.Thr65Ala) c.201A>G n.149A>G c.2614A>G (p.Thr872Ala) c.2605A>G (p.Thr869Ala) c.2632A>G (p.Thr878Ala) c.2629A>G (p.Thr877Ala) c.2611A>G (p.Thr871Ala) c.2554A>G (p.Thr852Ala) c.2488A>G (p.Thr830Ala) c.1054A>G (p.Thr352Ala) c.406A>G (p.Thr136Ala) c.2467A>G (p.Thr823Ala) c.2602A>G (p.Thr868Ala) c.2608A>G (p.Thr870Ala) c.2524A>G (p.Thr842Ala) c.2452A>G (p.Thr818Ala) c.2386A>G (p.Thr796Ala) c.1747A>G (p.Thr583Ala) c.2365A>G (p.Thr789Ala) | |
9 | g.137800895A>T | CA375788748 | EHMT1 | c.2623A>T (p.Thr875Ser) c.2509A>T (p.Thr837Ser) c.2530A>T (p.Thr844Ser) c.2663A>T (n.2663A>T) c.517A>T (p.Thr173Ser) c.301A>T (p.Thr101Ser) c.1480A>T (p.Thr494Ser) c.193A>T (p.Thr65Ser) c.201A>T n.149A>T c.2614A>T (p.Thr872Ser) c.2605A>T (p.Thr869Ser) c.2632A>T (p.Thr878Ser) c.2629A>T (p.Thr877Ser) c.2611A>T (p.Thr871Ser) c.2554A>T (p.Thr852Ser) c.2488A>T (p.Thr830Ser) c.1054A>T (p.Thr352Ser) c.406A>T (p.Thr136Ser) c.2467A>T (p.Thr823Ser) c.2602A>T (p.Thr868Ser) c.2608A>T (p.Thr870Ser) c.2524A>T (p.Thr842Ser) c.2452A>T (p.Thr818Ser) c.2386A>T (p.Thr796Ser) c.1747A>T (p.Thr583Ser) c.2365A>T (p.Thr789Ser) | |
9 | g.137800896C>A | CA375788750 | EHMT1 | c.2624C>A (p.Thr875Lys) c.2510C>A (p.Thr837Lys) c.2531C>A (p.Thr844Lys) c.2664C>A (n.2664C>A) c.518C>A (p.Thr173Lys) c.302C>A (p.Thr101Lys) c.1481C>A (p.Thr494Lys) c.194C>A (p.Thr65Lys) c.202C>A n.150C>A c.2615C>A (p.Thr872Lys) c.2606C>A (p.Thr869Lys) c.2633C>A (p.Thr878Lys) c.2630C>A (p.Thr877Lys) c.2612C>A (p.Thr871Lys) c.2555C>A (p.Thr852Lys) c.2489C>A (p.Thr830Lys) c.1055C>A (p.Thr352Lys) c.407C>A (p.Thr136Lys) c.2468C>A (p.Thr823Lys) c.2603C>A (p.Thr868Lys) c.2609C>A (p.Thr870Lys) c.2525C>A (p.Thr842Lys) c.2453C>A (p.Thr818Lys) c.2387C>A (p.Thr796Lys) c.1748C>A (p.Thr583Lys) c.2366C>A (p.Thr789Lys) | |
9 | g.137800896C= | CA1884679267 | EHMT1 | c.2624C= (p.Thr875=) c.2510C= (p.Thr837=) c.2531C= (p.Thr844=) c.2664C= (n.2664C=) c.518C= (p.Thr173=) c.302C= (p.Thr101=) c.1481C= (p.Thr494=) c.194C= (p.Thr65=) c.202C= n.150C= c.2615C= (p.Thr872=) c.2606C= (p.Thr869=) c.2633C= (p.Thr878=) c.2630C= (p.Thr877=) c.2612C= (p.Thr871=) c.2555C= (p.Thr852=) c.2489C= (p.Thr830=) c.1055C= (p.Thr352=) c.407C= (p.Thr136=) c.2468C= (p.Thr823=) c.2603C= (p.Thr868=) c.2609C= (p.Thr870=) c.2525C= (p.Thr842=) c.2453C= (p.Thr818=) c.2387C= (p.Thr796=) c.1748C= (p.Thr583=) c.2366C= (p.Thr789=) | |
9 | g.137800896C>G | CA375788752 | EHMT1 | c.2624C>G (p.Thr875Arg) c.2510C>G (p.Thr837Arg) c.2531C>G (p.Thr844Arg) c.2664C>G (n.2664C>G) c.518C>G (p.Thr173Arg) c.302C>G (p.Thr101Arg) c.1481C>G (p.Thr494Arg) c.194C>G (p.Thr65Arg) c.202C>G n.150C>G c.2615C>G (p.Thr872Arg) c.2606C>G (p.Thr869Arg) c.2633C>G (p.Thr878Arg) c.2630C>G (p.Thr877Arg) c.2612C>G (p.Thr871Arg) c.2555C>G (p.Thr852Arg) c.2489C>G (p.Thr830Arg) c.1055C>G (p.Thr352Arg) c.407C>G (p.Thr136Arg) c.2468C>G (p.Thr823Arg) c.2603C>G (p.Thr868Arg) c.2609C>G (p.Thr870Arg) c.2525C>G (p.Thr842Arg) c.2453C>G (p.Thr818Arg) c.2387C>G (p.Thr796Arg) c.1748C>G (p.Thr583Arg) c.2366C>G (p.Thr789Arg) | ClinVar dbSNP |
9 | g.137800896C>T | CA375788753 | EHMT1 | c.2624C>T (p.Thr875Ile) c.2510C>T (p.Thr837Ile) c.2531C>T (p.Thr844Ile) c.2664C>T (n.2664C>T) c.518C>T (p.Thr173Ile) c.302C>T (p.Thr101Ile) c.1481C>T (p.Thr494Ile) c.194C>T (p.Thr65Ile) c.202C>T n.150C>T c.2615C>T (p.Thr872Ile) c.2606C>T (p.Thr869Ile) c.2633C>T (p.Thr878Ile) c.2630C>T (p.Thr877Ile) c.2612C>T (p.Thr871Ile) c.2555C>T (p.Thr852Ile) c.2489C>T (p.Thr830Ile) c.1055C>T (p.Thr352Ile) c.407C>T (p.Thr136Ile) c.2468C>T (p.Thr823Ile) c.2603C>T (p.Thr868Ile) c.2609C>T (p.Thr870Ile) c.2525C>T (p.Thr842Ile) c.2453C>T (p.Thr818Ile) c.2387C>T (p.Thr796Ile) c.1748C>T (p.Thr583Ile) c.2366C>T (p.Thr789Ile) | |
9 | g.137800897del | CA2573144345 | EHMT1 | c.2625del (p.Met877Ter) c.2511del (p.Met839Ter) c.2532del (p.Met846Ter) c.2665del (n.2665del) c.519del (p.Met175Ter) c.303del (p.Met103Ter) c.1482del (p.Met496Ter) c.195del (p.Met67Ter) c.203del n.151del c.2616del (p.Met874Ter) c.2607del (p.Met871Ter) c.2634del (p.Met880Ter) c.2631del (p.Met879Ter) c.2613del (p.Met873Ter) c.2556del (p.Met854Ter) c.2490del (p.Met832Ter) c.1056del (p.Met354Ter) c.408del (p.Met138Ter) c.2469del (p.Met825Ter) c.2604del (p.Met870Ter) c.2610del (p.Met872Ter) c.2526del (p.Met844Ter) c.2454del (p.Met820Ter) c.2388del (p.Met798Ter) c.1749del (p.Met585Ter) c.2367del (p.Met791Ter) | ClinVar dbSNP |
9 | g.137800897A>C | CA467877592 | EHMT1 | c.2625A>C (p.Thr875=) c.2511A>C (p.Thr837=) c.2532A>C (p.Thr844=) c.2665A>C (n.2665A>C) c.519A>C (p.Thr173=) c.303A>C (p.Thr101=) c.1482A>C (p.Thr494=) c.195A>C (p.Thr65=) c.203A>C n.151A>C c.2616A>C (p.Thr872=) c.2607A>C (p.Thr869=) c.2634A>C (p.Thr878=) c.2631A>C (p.Thr877=) c.2613A>C (p.Thr871=) c.2556A>C (p.Thr852=) c.2490A>C (p.Thr830=) c.1056A>C (p.Thr352=) c.408A>C (p.Thr136=) c.2469A>C (p.Thr823=) c.2604A>C (p.Thr868=) c.2610A>C (p.Thr870=) c.2526A>C (p.Thr842=) c.2454A>C (p.Thr818=) c.2388A>C (p.Thr796=) c.1749A>C (p.Thr583=) c.2367A>C (p.Thr789=) | |
9 | g.137800897A>G | CA467877593 | EHMT1 | c.2625A>G (p.Thr875=) c.2511A>G (p.Thr837=) c.2532A>G (p.Thr844=) c.2665A>G (n.2665A>G) c.519A>G (p.Thr173=) c.303A>G (p.Thr101=) c.1482A>G (p.Thr494=) c.195A>G (p.Thr65=) c.203A>G n.151A>G c.2616A>G (p.Thr872=) c.2607A>G (p.Thr869=) c.2634A>G (p.Thr878=) c.2631A>G (p.Thr877=) c.2613A>G (p.Thr871=) c.2556A>G (p.Thr852=) c.2490A>G (p.Thr830=) c.1056A>G (p.Thr352=) c.408A>G (p.Thr136=) c.2469A>G (p.Thr823=) c.2604A>G (p.Thr868=) c.2610A>G (p.Thr870=) c.2526A>G (p.Thr842=) c.2454A>G (p.Thr818=) c.2388A>G (p.Thr796=) c.1749A>G (p.Thr583=) c.2367A>G (p.Thr789=) | |
9 | g.137800897A>T | CA467877594 | EHMT1 | c.2625A>T (p.Thr875=) c.2511A>T (p.Thr837=) c.2532A>T (p.Thr844=) c.2665A>T (n.2665A>T) c.519A>T (p.Thr173=) c.303A>T (p.Thr101=) c.1482A>T (p.Thr494=) c.195A>T (p.Thr65=) c.203A>T n.151A>T c.2616A>T (p.Thr872=) c.2607A>T (p.Thr869=) c.2634A>T (p.Thr878=) c.2631A>T (p.Thr877=) c.2613A>T (p.Thr871=) c.2556A>T (p.Thr852=) c.2490A>T (p.Thr830=) c.1056A>T (p.Thr352=) c.408A>T (p.Thr136=) c.2469A>T (p.Thr823=) c.2604A>T (p.Thr868=) c.2610A>T (p.Thr870=) c.2526A>T (p.Thr842=) c.2454A>T (p.Thr818=) c.2388A>T (p.Thr796=) c.1749A>T (p.Thr583=) c.2367A>T (p.Thr789=) | |
9 | g.137800898C>A | CA375788755 | EHMT1 | c.2626C>A (p.Pro876Thr) c.2512C>A (p.Pro838Thr) c.2533C>A (p.Pro845Thr) c.2666C>A (n.2666C>A) c.520C>A (p.Pro174Thr) c.304C>A (p.Pro102Thr) c.1483C>A (p.Pro495Thr) c.196C>A (p.Pro66Thr) c.204C>A n.152C>A c.2617C>A (p.Pro873Thr) c.2608C>A (p.Pro870Thr) c.2635C>A (p.Pro879Thr) c.2632C>A (p.Pro878Thr) c.2614C>A (p.Pro872Thr) c.2557C>A (p.Pro853Thr) c.2491C>A (p.Pro831Thr) c.1057C>A (p.Pro353Thr) c.409C>A (p.Pro137Thr) c.2470C>A (p.Pro824Thr) c.2605C>A (p.Pro869Thr) c.2611C>A (p.Pro871Thr) c.2527C>A (p.Pro843Thr) c.2455C>A (p.Pro819Thr) c.2389C>A (p.Pro797Thr) c.1750C>A (p.Pro584Thr) c.2368C>A (p.Pro790Thr) | |
9 | g.137800898C= | CA1884679268 | EHMT1 | c.2626C= (p.Pro876=) c.2512C= (p.Pro838=) c.2533C= (p.Pro845=) c.2666C= (n.2666C=) c.520C= (p.Pro174=) c.304C= (p.Pro102=) c.1483C= (p.Pro495=) c.196C= (p.Pro66=) c.204C= n.152C= c.2617C= (p.Pro873=) c.2608C= (p.Pro870=) c.2635C= (p.Pro879=) c.2632C= (p.Pro878=) c.2614C= (p.Pro872=) c.2557C= (p.Pro853=) c.2491C= (p.Pro831=) c.1057C= (p.Pro353=) c.409C= (p.Pro137=) c.2470C= (p.Pro824=) c.2605C= (p.Pro869=) c.2611C= (p.Pro871=) c.2527C= (p.Pro843=) c.2455C= (p.Pro819=) c.2389C= (p.Pro797=) c.1750C= (p.Pro584=) c.2368C= (p.Pro790=) | |
9 | g.137800898C>G | CA375788758 | EHMT1 | c.2626C>G (p.Pro876Ala) c.2512C>G (p.Pro838Ala) c.2533C>G (p.Pro845Ala) c.2666C>G (n.2666C>G) c.520C>G (p.Pro174Ala) c.304C>G (p.Pro102Ala) c.1483C>G (p.Pro495Ala) c.196C>G (p.Pro66Ala) c.204C>G n.152C>G c.2617C>G (p.Pro873Ala) c.2608C>G (p.Pro870Ala) c.2635C>G (p.Pro879Ala) c.2632C>G (p.Pro878Ala) c.2614C>G (p.Pro872Ala) c.2557C>G (p.Pro853Ala) c.2491C>G (p.Pro831Ala) c.1057C>G (p.Pro353Ala) c.409C>G (p.Pro137Ala) c.2470C>G (p.Pro824Ala) c.2605C>G (p.Pro869Ala) c.2611C>G (p.Pro871Ala) c.2527C>G (p.Pro843Ala) c.2455C>G (p.Pro819Ala) c.2389C>G (p.Pro797Ala) c.1750C>G (p.Pro584Ala) c.2368C>G (p.Pro790Ala) | |
9 | g.137800898C>T | CA5375017 | EHMT1 | c.2626C>T (p.Pro876Ser) c.2512C>T (p.Pro838Ser) c.2533C>T (p.Pro845Ser) c.2666C>T (n.2666C>T) c.520C>T (p.Pro174Ser) c.304C>T (p.Pro102Ser) c.1483C>T (p.Pro495Ser) c.196C>T (p.Pro66Ser) c.204C>T n.152C>T c.2617C>T (p.Pro873Ser) c.2608C>T (p.Pro870Ser) c.2635C>T (p.Pro879Ser) c.2632C>T (p.Pro878Ser) c.2614C>T (p.Pro872Ser) c.2557C>T (p.Pro853Ser) c.2491C>T (p.Pro831Ser) c.1057C>T (p.Pro353Ser) c.409C>T (p.Pro137Ser) c.2470C>T (p.Pro824Ser) c.2605C>T (p.Pro869Ser) c.2611C>T (p.Pro871Ser) c.2527C>T (p.Pro843Ser) c.2455C>T (p.Pro819Ser) c.2389C>T (p.Pro797Ser) c.1750C>T (p.Pro584Ser) c.2368C>T (p.Pro790Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800899C>A | CA375788759 | EHMT1 | c.2627C>A (p.Pro876His) c.2513C>A (p.Pro838His) c.2534C>A (p.Pro845His) c.2667C>A (n.2667C>A) c.521C>A (p.Pro174His) c.305C>A (p.Pro102His) c.1484C>A (p.Pro495His) c.197C>A (p.Pro66His) c.205C>A n.153C>A c.2618C>A (p.Pro873His) c.2609C>A (p.Pro870His) c.2636C>A (p.Pro879His) c.2633C>A (p.Pro878His) c.2615C>A (p.Pro872His) c.2558C>A (p.Pro853His) c.2492C>A (p.Pro831His) c.1058C>A (p.Pro353His) c.410C>A (p.Pro137His) c.2471C>A (p.Pro824His) c.2606C>A (p.Pro869His) c.2612C>A (p.Pro871His) c.2528C>A (p.Pro843His) c.2456C>A (p.Pro819His) c.2390C>A (p.Pro797His) c.1751C>A (p.Pro584His) c.2369C>A (p.Pro790His) | |
9 | g.137800899C>G | CA375788760 | EHMT1 | c.2627C>G (p.Pro876Arg) c.2513C>G (p.Pro838Arg) c.2534C>G (p.Pro845Arg) c.2667C>G (n.2667C>G) c.521C>G (p.Pro174Arg) c.305C>G (p.Pro102Arg) c.1484C>G (p.Pro495Arg) c.197C>G (p.Pro66Arg) c.205C>G n.153C>G c.2618C>G (p.Pro873Arg) c.2609C>G (p.Pro870Arg) c.2636C>G (p.Pro879Arg) c.2633C>G (p.Pro878Arg) c.2615C>G (p.Pro872Arg) c.2558C>G (p.Pro853Arg) c.2492C>G (p.Pro831Arg) c.1058C>G (p.Pro353Arg) c.410C>G (p.Pro137Arg) c.2471C>G (p.Pro824Arg) c.2606C>G (p.Pro869Arg) c.2612C>G (p.Pro871Arg) c.2528C>G (p.Pro843Arg) c.2456C>G (p.Pro819Arg) c.2390C>G (p.Pro797Arg) c.1751C>G (p.Pro584Arg) c.2369C>G (p.Pro790Arg) | |
9 | g.137800899C>T | CA375788761 | EHMT1 | c.2627C>T (p.Pro876Leu) c.2513C>T (p.Pro838Leu) c.2534C>T (p.Pro845Leu) c.2667C>T (n.2667C>T) c.521C>T (p.Pro174Leu) c.305C>T (p.Pro102Leu) c.1484C>T (p.Pro495Leu) c.197C>T (p.Pro66Leu) c.205C>T n.153C>T c.2618C>T (p.Pro873Leu) c.2609C>T (p.Pro870Leu) c.2636C>T (p.Pro879Leu) c.2633C>T (p.Pro878Leu) c.2615C>T (p.Pro872Leu) c.2558C>T (p.Pro853Leu) c.2492C>T (p.Pro831Leu) c.1058C>T (p.Pro353Leu) c.410C>T (p.Pro137Leu) c.2471C>T (p.Pro824Leu) c.2606C>T (p.Pro869Leu) c.2612C>T (p.Pro871Leu) c.2528C>T (p.Pro843Leu) c.2456C>T (p.Pro819Leu) c.2390C>T (p.Pro797Leu) c.1751C>T (p.Pro584Leu) c.2369C>T (p.Pro790Leu) | |
9 | g.137800900C>A | CA467877599 | EHMT1 | c.2628C>A (p.Pro876=) c.2514C>A (p.Pro838=) c.2535C>A (p.Pro845=) c.2668C>A (n.2668C>A) c.522C>A (p.Pro174=) c.306C>A (p.Pro102=) c.1485C>A (p.Pro495=) c.198C>A (p.Pro66=) c.206C>A n.154C>A c.2619C>A (p.Pro873=) c.2610C>A (p.Pro870=) c.2637C>A (p.Pro879=) c.2634C>A (p.Pro878=) c.2616C>A (p.Pro872=) c.2559C>A (p.Pro853=) c.2493C>A (p.Pro831=) c.1059C>A (p.Pro353=) c.411C>A (p.Pro137=) c.2472C>A (p.Pro824=) c.2607C>A (p.Pro869=) c.2613C>A (p.Pro871=) c.2529C>A (p.Pro843=) c.2457C>A (p.Pro819=) c.2391C>A (p.Pro797=) c.1752C>A (p.Pro584=) c.2370C>A (p.Pro790=) | gnomAD v4 |
9 | g.137800900C= | CA1884679269 | EHMT1 | c.2628C= (p.Pro876=) c.2514C= (p.Pro838=) c.2535C= (p.Pro845=) c.2668C= (n.2668C=) c.522C= (p.Pro174=) c.306C= (p.Pro102=) c.1485C= (p.Pro495=) c.198C= (p.Pro66=) c.206C= n.154C= c.2619C= (p.Pro873=) c.2610C= (p.Pro870=) c.2637C= (p.Pro879=) c.2634C= (p.Pro878=) c.2616C= (p.Pro872=) c.2559C= (p.Pro853=) c.2493C= (p.Pro831=) c.1059C= (p.Pro353=) c.411C= (p.Pro137=) c.2472C= (p.Pro824=) c.2607C= (p.Pro869=) c.2613C= (p.Pro871=) c.2529C= (p.Pro843=) c.2457C= (p.Pro819=) c.2391C= (p.Pro797=) c.1752C= (p.Pro584=) c.2370C= (p.Pro790=) | |
9 | g.137800900C>G | CA467877601 | EHMT1 | c.2628C>G (p.Pro876=) c.2514C>G (p.Pro838=) c.2535C>G (p.Pro845=) c.2668C>G (n.2668C>G) c.522C>G (p.Pro174=) c.306C>G (p.Pro102=) c.1485C>G (p.Pro495=) c.198C>G (p.Pro66=) c.206C>G n.154C>G c.2619C>G (p.Pro873=) c.2610C>G (p.Pro870=) c.2637C>G (p.Pro879=) c.2634C>G (p.Pro878=) c.2616C>G (p.Pro872=) c.2559C>G (p.Pro853=) c.2493C>G (p.Pro831=) c.1059C>G (p.Pro353=) c.411C>G (p.Pro137=) c.2472C>G (p.Pro824=) c.2607C>G (p.Pro869=) c.2613C>G (p.Pro871=) c.2529C>G (p.Pro843=) c.2457C>G (p.Pro819=) c.2391C>G (p.Pro797=) c.1752C>G (p.Pro584=) c.2370C>G (p.Pro790=) | |
9 | g.137800900C>T | CA5375018 | EHMT1 | c.2628C>T (p.Pro876=) c.2514C>T (p.Pro838=) c.2535C>T (p.Pro845=) c.2668C>T (n.2668C>T) c.522C>T (p.Pro174=) c.306C>T (p.Pro102=) c.1485C>T (p.Pro495=) c.198C>T (p.Pro66=) c.206C>T n.154C>T c.2619C>T (p.Pro873=) c.2610C>T (p.Pro870=) c.2637C>T (p.Pro879=) c.2634C>T (p.Pro878=) c.2616C>T (p.Pro872=) c.2559C>T (p.Pro853=) c.2493C>T (p.Pro831=) c.1059C>T (p.Pro353=) c.411C>T (p.Pro137=) c.2472C>T (p.Pro824=) c.2607C>T (p.Pro869=) c.2613C>T (p.Pro871=) c.2529C>T (p.Pro843=) c.2457C>T (p.Pro819=) c.2391C>T (p.Pro797=) c.1752C>T (p.Pro584=) c.2370C>T (p.Pro790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137800901A= | CA1884679270 | EHMT1 | c.2629A= (p.Met877=) c.2515A= (p.Met839=) c.2536A= (p.Met846=) c.2669A= (n.2669A=) c.523A= (p.Met175=) c.307A= (p.Met103=) c.1486A= (p.Met496=) c.199A= (p.Met67=) c.207A= n.155A= c.2620A= (p.Met874=) c.2611A= (p.Met871=) c.2638A= (p.Met880=) c.2635A= (p.Met879=) c.2617A= (p.Met873=) c.2560A= (p.Met854=) c.2494A= (p.Met832=) c.1060A= (p.Met354=) c.412A= (p.Met138=) c.2473A= (p.Met825=) c.2608A= (p.Met870=) c.2614A= (p.Met872=) c.2530A= (p.Met844=) c.2458A= (p.Met820=) c.2392A= (p.Met798=) c.1753A= (p.Met585=) c.2371A= (p.Met791=) | |
9 | g.137800901A>C | CA375788763 | EHMT1 | c.2629A>C (p.Met877Leu) c.2515A>C (p.Met839Leu) c.2536A>C (p.Met846Leu) c.2669A>C (n.2669A>C) c.523A>C (p.Met175Leu) c.307A>C (p.Met103Leu) c.1486A>C (p.Met496Leu) c.199A>C (p.Met67Leu) c.207A>C n.155A>C c.2620A>C (p.Met874Leu) c.2611A>C (p.Met871Leu) c.2638A>C (p.Met880Leu) c.2635A>C (p.Met879Leu) c.2617A>C (p.Met873Leu) c.2560A>C (p.Met854Leu) c.2494A>C (p.Met832Leu) c.1060A>C (p.Met354Leu) c.412A>C (p.Met138Leu) c.2473A>C (p.Met825Leu) c.2608A>C (p.Met870Leu) c.2614A>C (p.Met872Leu) c.2530A>C (p.Met844Leu) c.2458A>C (p.Met820Leu) c.2392A>C (p.Met798Leu) c.1753A>C (p.Met585Leu) c.2371A>C (p.Met791Leu) | |
9 | g.137800901A>G | CA375788764 | EHMT1 | c.2629A>G (p.Met877Val) c.2515A>G (p.Met839Val) c.2536A>G (p.Met846Val) c.2669A>G (n.2669A>G) c.523A>G (p.Met175Val) c.307A>G (p.Met103Val) c.1486A>G (p.Met496Val) c.199A>G (p.Met67Val) c.207A>G n.155A>G c.2620A>G (p.Met874Val) c.2611A>G (p.Met871Val) c.2638A>G (p.Met880Val) c.2635A>G (p.Met879Val) c.2617A>G (p.Met873Val) c.2560A>G (p.Met854Val) c.2494A>G (p.Met832Val) c.1060A>G (p.Met354Val) c.412A>G (p.Met138Val) c.2473A>G (p.Met825Val) c.2608A>G (p.Met870Val) c.2614A>G (p.Met872Val) c.2530A>G (p.Met844Val) c.2458A>G (p.Met820Val) c.2392A>G (p.Met798Val) c.1753A>G (p.Met585Val) c.2371A>G (p.Met791Val) | ClinVar dbSNP gnomAD v4 |
9 | g.137800901A>T | CA375788765 | EHMT1 | c.2629A>T (p.Met877Leu) c.2515A>T (p.Met839Leu) c.2536A>T (p.Met846Leu) c.2669A>T (n.2669A>T) c.523A>T (p.Met175Leu) c.307A>T (p.Met103Leu) c.1486A>T (p.Met496Leu) c.199A>T (p.Met67Leu) c.207A>T n.155A>T c.2620A>T (p.Met874Leu) c.2611A>T (p.Met871Leu) c.2638A>T (p.Met880Leu) c.2635A>T (p.Met879Leu) c.2617A>T (p.Met873Leu) c.2560A>T (p.Met854Leu) c.2494A>T (p.Met832Leu) c.1060A>T (p.Met354Leu) c.412A>T (p.Met138Leu) c.2473A>T (p.Met825Leu) c.2608A>T (p.Met870Leu) c.2614A>T (p.Met872Leu) c.2530A>T (p.Met844Leu) c.2458A>T (p.Met820Leu) c.2392A>T (p.Met798Leu) c.1753A>T (p.Met585Leu) c.2371A>T (p.Met791Leu) | |
9 | g.137800902T>A | CA375788767 | EHMT1 | c.2630T>A (p.Met877Lys) c.2516T>A (p.Met839Lys) c.2537T>A (p.Met846Lys) c.2670T>A (n.2670T>A) c.524T>A (p.Met175Lys) c.308T>A (p.Met103Lys) c.1487T>A (p.Met496Lys) c.200T>A (p.Met67Lys) c.208T>A n.156T>A c.2621T>A (p.Met874Lys) c.2612T>A (p.Met871Lys) c.2639T>A (p.Met880Lys) c.2636T>A (p.Met879Lys) c.2618T>A (p.Met873Lys) c.2561T>A (p.Met854Lys) c.2495T>A (p.Met832Lys) c.1061T>A (p.Met354Lys) c.413T>A (p.Met138Lys) c.2474T>A (p.Met825Lys) c.2609T>A (p.Met870Lys) c.2615T>A (p.Met872Lys) c.2531T>A (p.Met844Lys) c.2459T>A (p.Met820Lys) c.2393T>A (p.Met798Lys) c.1754T>A (p.Met585Lys) c.2372T>A (p.Met791Lys) | |
9 | g.137800902T>C | CA375788768 | EHMT1 | c.2630T>C (p.Met877Thr) c.2516T>C (p.Met839Thr) c.2537T>C (p.Met846Thr) c.2670T>C (n.2670T>C) c.524T>C (p.Met175Thr) c.308T>C (p.Met103Thr) c.1487T>C (p.Met496Thr) c.200T>C (p.Met67Thr) c.208T>C n.156T>C c.2621T>C (p.Met874Thr) c.2612T>C (p.Met871Thr) c.2639T>C (p.Met880Thr) c.2636T>C (p.Met879Thr) c.2618T>C (p.Met873Thr) c.2561T>C (p.Met854Thr) c.2495T>C (p.Met832Thr) c.1061T>C (p.Met354Thr) c.413T>C (p.Met138Thr) c.2474T>C (p.Met825Thr) c.2609T>C (p.Met870Thr) c.2615T>C (p.Met872Thr) c.2531T>C (p.Met844Thr) c.2459T>C (p.Met820Thr) c.2393T>C (p.Met798Thr) c.1754T>C (p.Met585Thr) c.2372T>C (p.Met791Thr) | |
9 | g.137800902T>G | CA375788770 | EHMT1 | c.2630T>G (p.Met877Arg) c.2516T>G (p.Met839Arg) c.2537T>G (p.Met846Arg) c.2670T>G (n.2670T>G) c.524T>G (p.Met175Arg) c.308T>G (p.Met103Arg) c.1487T>G (p.Met496Arg) c.200T>G (p.Met67Arg) c.208T>G n.156T>G c.2621T>G (p.Met874Arg) c.2612T>G (p.Met871Arg) c.2639T>G (p.Met880Arg) c.2636T>G (p.Met879Arg) c.2618T>G (p.Met873Arg) c.2561T>G (p.Met854Arg) c.2495T>G (p.Met832Arg) c.1061T>G (p.Met354Arg) c.413T>G (p.Met138Arg) c.2474T>G (p.Met825Arg) c.2609T>G (p.Met870Arg) c.2615T>G (p.Met872Arg) c.2531T>G (p.Met844Arg) c.2459T>G (p.Met820Arg) c.2393T>G (p.Met798Arg) c.1754T>G (p.Met585Arg) c.2372T>G (p.Met791Arg) | |
9 | g.137800903G>A | CA375788771 | EHMT1 | c.2631G>A (p.Met877Ile) c.2517G>A (p.Met839Ile) c.2538G>A (p.Met846Ile) c.2671G>A (n.2671G>A) c.525G>A (p.Met175Ile) c.309G>A (p.Met103Ile) c.1488G>A (p.Met496Ile) c.201G>A (p.Met67Ile) c.209G>A n.157G>A c.2622G>A (p.Met874Ile) c.2613G>A (p.Met871Ile) c.2640G>A (p.Met880Ile) c.2637G>A (p.Met879Ile) c.2619G>A (p.Met873Ile) c.2562G>A (p.Met854Ile) c.2496G>A (p.Met832Ile) c.1062G>A (p.Met354Ile) c.414G>A (p.Met138Ile) c.2475G>A (p.Met825Ile) c.2610G>A (p.Met870Ile) c.2616G>A (p.Met872Ile) c.2532G>A (p.Met844Ile) c.2460G>A (p.Met820Ile) c.2394G>A (p.Met798Ile) c.1755G>A (p.Met585Ile) c.2373G>A (p.Met791Ile) | gnomAD v4 |
9 | g.137800903G>C | CA375788773 | EHMT1 | c.2631G>C (p.Met877Ile) c.2517G>C (p.Met839Ile) c.2538G>C (p.Met846Ile) c.2671G>C (n.2671G>C) c.525G>C (p.Met175Ile) c.309G>C (p.Met103Ile) c.1488G>C (p.Met496Ile) c.201G>C (p.Met67Ile) c.209G>C n.157G>C c.2622G>C (p.Met874Ile) c.2613G>C (p.Met871Ile) c.2640G>C (p.Met880Ile) c.2637G>C (p.Met879Ile) c.2619G>C (p.Met873Ile) c.2562G>C (p.Met854Ile) c.2496G>C (p.Met832Ile) c.1062G>C (p.Met354Ile) c.414G>C (p.Met138Ile) c.2475G>C (p.Met825Ile) c.2610G>C (p.Met870Ile) c.2616G>C (p.Met872Ile) c.2532G>C (p.Met844Ile) c.2460G>C (p.Met820Ile) c.2394G>C (p.Met798Ile) c.1755G>C (p.Met585Ile) c.2373G>C (p.Met791Ile) | |
9 | g.137800903G>T | CA375788774 | EHMT1 | c.2631G>T (p.Met877Ile) c.2517G>T (p.Met839Ile) c.2538G>T (p.Met846Ile) c.2671G>T (n.2671G>T) c.525G>T (p.Met175Ile) c.309G>T (p.Met103Ile) c.1488G>T (p.Met496Ile) c.201G>T (p.Met67Ile) c.209G>T n.157G>T c.2622G>T (p.Met874Ile) c.2613G>T (p.Met871Ile) c.2640G>T (p.Met880Ile) c.2637G>T (p.Met879Ile) c.2619G>T (p.Met873Ile) c.2562G>T (p.Met854Ile) c.2496G>T (p.Met832Ile) c.1062G>T (p.Met354Ile) c.414G>T (p.Met138Ile) c.2475G>T (p.Met825Ile) c.2610G>T (p.Met870Ile) c.2616G>T (p.Met872Ile) c.2532G>T (p.Met844Ile) c.2460G>T (p.Met820Ile) c.2394G>T (p.Met798Ile) c.1755G>T (p.Met585Ile) c.2373G>T (p.Met791Ile) | |
9 | g.137800904A>C | CA375788776 | EHMT1 | c.2632A>C (p.Ile878Leu) c.2518A>C (p.Ile840Leu) c.2539A>C (p.Ile847Leu) c.2672A>C (n.2672A>C) c.526A>C (p.Ile176Leu) c.310A>C (p.Ile104Leu) c.1489A>C (p.Ile497Leu) c.202A>C (p.Ile68Leu) c.210A>C n.158A>C c.2623A>C (p.Ile875Leu) c.2614A>C (p.Ile872Leu) c.2641A>C (p.Ile881Leu) c.2638A>C (p.Ile880Leu) c.2620A>C (p.Ile874Leu) c.2563A>C (p.Ile855Leu) c.2497A>C (p.Ile833Leu) c.1063A>C (p.Ile355Leu) c.415A>C (p.Ile139Leu) c.2476A>C (p.Ile826Leu) c.2611A>C (p.Ile871Leu) c.2617A>C (p.Ile873Leu) c.2533A>C (p.Ile845Leu) c.2461A>C (p.Ile821Leu) c.2395A>C (p.Ile799Leu) c.1756A>C (p.Ile586Leu) c.2374A>C (p.Ile792Leu) | |
9 | g.137800904A>G | CA375788780 | EHMT1 | c.2632A>G (p.Ile878Val) c.2518A>G (p.Ile840Val) c.2539A>G (p.Ile847Val) c.2672A>G (n.2672A>G) c.526A>G (p.Ile176Val) c.310A>G (p.Ile104Val) c.1489A>G (p.Ile497Val) c.202A>G (p.Ile68Val) c.210A>G n.158A>G c.2623A>G (p.Ile875Val) c.2614A>G (p.Ile872Val) c.2641A>G (p.Ile881Val) c.2638A>G (p.Ile880Val) c.2620A>G (p.Ile874Val) c.2563A>G (p.Ile855Val) c.2497A>G (p.Ile833Val) c.1063A>G (p.Ile355Val) c.415A>G (p.Ile139Val) c.2476A>G (p.Ile826Val) c.2611A>G (p.Ile871Val) c.2617A>G (p.Ile873Val) c.2533A>G (p.Ile845Val) c.2461A>G (p.Ile821Val) c.2395A>G (p.Ile799Val) c.1756A>G (p.Ile586Val) c.2374A>G (p.Ile792Val) | |
9 | g.137800904A>T | CA375788778 | EHMT1 | c.2632A>T (p.Ile878Phe) c.2518A>T (p.Ile840Phe) c.2539A>T (p.Ile847Phe) c.2672A>T (n.2672A>T) c.526A>T (p.Ile176Phe) c.310A>T (p.Ile104Phe) c.1489A>T (p.Ile497Phe) c.202A>T (p.Ile68Phe) c.210A>T n.158A>T c.2623A>T (p.Ile875Phe) c.2614A>T (p.Ile872Phe) c.2641A>T (p.Ile881Phe) c.2638A>T (p.Ile880Phe) c.2620A>T (p.Ile874Phe) c.2563A>T (p.Ile855Phe) c.2497A>T (p.Ile833Phe) c.1063A>T (p.Ile355Phe) c.415A>T (p.Ile139Phe) c.2476A>T (p.Ile826Phe) c.2611A>T (p.Ile871Phe) c.2617A>T (p.Ile873Phe) c.2533A>T (p.Ile845Phe) c.2461A>T (p.Ile821Phe) c.2395A>T (p.Ile799Phe) c.1756A>T (p.Ile586Phe) c.2374A>T (p.Ile792Phe) | |
9 | g.137800905T>A | CA375788782 | EHMT1 | c.2633T>A (p.Ile878Asn) c.2519T>A (p.Ile840Asn) c.2540T>A (p.Ile847Asn) c.2673T>A (n.2673T>A) c.527T>A (p.Ile176Asn) c.311T>A (p.Ile104Asn) c.1490T>A (p.Ile497Asn) c.203T>A (p.Ile68Asn) c.211T>A n.159T>A c.2624T>A (p.Ile875Asn) c.2615T>A (p.Ile872Asn) c.2642T>A (p.Ile881Asn) c.2639T>A (p.Ile880Asn) c.2621T>A (p.Ile874Asn) c.2564T>A (p.Ile855Asn) c.2498T>A (p.Ile833Asn) c.1064T>A (p.Ile355Asn) c.416T>A (p.Ile139Asn) c.2477T>A (p.Ile826Asn) c.2612T>A (p.Ile871Asn) c.2618T>A (p.Ile873Asn) c.2534T>A (p.Ile845Asn) c.2462T>A (p.Ile821Asn) c.2396T>A (p.Ile799Asn) c.1757T>A (p.Ile586Asn) c.2375T>A (p.Ile792Asn) | |
9 | g.137800905T>C | CA375788784 | EHMT1 | c.2633T>C (p.Ile878Thr) c.2519T>C (p.Ile840Thr) c.2540T>C (p.Ile847Thr) c.2673T>C (n.2673T>C) c.527T>C (p.Ile176Thr) c.311T>C (p.Ile104Thr) c.1490T>C (p.Ile497Thr) c.203T>C (p.Ile68Thr) c.211T>C n.159T>C c.2624T>C (p.Ile875Thr) c.2615T>C (p.Ile872Thr) c.2642T>C (p.Ile881Thr) c.2639T>C (p.Ile880Thr) c.2621T>C (p.Ile874Thr) c.2564T>C (p.Ile855Thr) c.2498T>C (p.Ile833Thr) c.1064T>C (p.Ile355Thr) c.416T>C (p.Ile139Thr) c.2477T>C (p.Ile826Thr) c.2612T>C (p.Ile871Thr) c.2618T>C (p.Ile873Thr) c.2534T>C (p.Ile845Thr) c.2462T>C (p.Ile821Thr) c.2396T>C (p.Ile799Thr) c.1757T>C (p.Ile586Thr) c.2375T>C (p.Ile792Thr) | gnomAD v4 |
9 | g.137800905T>G | CA375788786 | EHMT1 | c.2633T>G (p.Ile878Ser) c.2519T>G (p.Ile840Ser) c.2540T>G (p.Ile847Ser) c.2673T>G (n.2673T>G) c.527T>G (p.Ile176Ser) c.311T>G (p.Ile104Ser) c.1490T>G (p.Ile497Ser) c.203T>G (p.Ile68Ser) c.211T>G n.159T>G c.2624T>G (p.Ile875Ser) c.2615T>G (p.Ile872Ser) c.2642T>G (p.Ile881Ser) c.2639T>G (p.Ile880Ser) c.2621T>G (p.Ile874Ser) c.2564T>G (p.Ile855Ser) c.2498T>G (p.Ile833Ser) c.1064T>G (p.Ile355Ser) c.416T>G (p.Ile139Ser) c.2477T>G (p.Ile826Ser) c.2612T>G (p.Ile871Ser) c.2618T>G (p.Ile873Ser) c.2534T>G (p.Ile845Ser) c.2462T>G (p.Ile821Ser) c.2396T>G (p.Ile799Ser) c.1757T>G (p.Ile586Ser) c.2375T>G (p.Ile792Ser) | |
9 | g.137800906C>A | CA467877607 | EHMT1 | c.2634C>A (p.Ile878=) c.2520C>A (p.Ile840=) c.2541C>A (p.Ile847=) c.2674C>A (n.2674C>A) c.528C>A (p.Ile176=) c.312C>A (p.Ile104=) c.1491C>A (p.Ile497=) c.204C>A (p.Ile68=) c.212C>A n.160C>A c.2625C>A (p.Ile875=) c.2616C>A (p.Ile872=) c.2643C>A (p.Ile881=) c.2640C>A (p.Ile880=) c.2622C>A (p.Ile874=) c.2565C>A (p.Ile855=) c.2499C>A (p.Ile833=) c.1065C>A (p.Ile355=) c.417C>A (p.Ile139=) c.2478C>A (p.Ile826=) c.2613C>A (p.Ile871=) c.2619C>A (p.Ile873=) c.2535C>A (p.Ile845=) c.2463C>A (p.Ile821=) c.2397C>A (p.Ile799=) c.1758C>A (p.Ile586=) c.2376C>A (p.Ile792=) | |
9 | g.137800906C= | CA1884679271 | EHMT1 | c.2634C= (p.Ile878=) c.2520C= (p.Ile840=) c.2541C= (p.Ile847=) c.2674C= (n.2674C=) c.528C= (p.Ile176=) c.312C= (p.Ile104=) c.1491C= (p.Ile497=) c.204C= (p.Ile68=) c.212C= n.160C= c.2625C= (p.Ile875=) c.2616C= (p.Ile872=) c.2643C= (p.Ile881=) c.2640C= (p.Ile880=) c.2622C= (p.Ile874=) c.2565C= (p.Ile855=) c.2499C= (p.Ile833=) c.1065C= (p.Ile355=) c.417C= (p.Ile139=) c.2478C= (p.Ile826=) c.2613C= (p.Ile871=) c.2619C= (p.Ile873=) c.2535C= (p.Ile845=) c.2463C= (p.Ile821=) c.2397C= (p.Ile799=) c.1758C= (p.Ile586=) c.2376C= (p.Ile792=) | |
9 | g.137800906C>G | CA375788788 | EHMT1 | c.2634C>G (p.Ile878Met) c.2520C>G (p.Ile840Met) c.2541C>G (p.Ile847Met) c.2674C>G (n.2674C>G) c.528C>G (p.Ile176Met) c.312C>G (p.Ile104Met) c.1491C>G (p.Ile497Met) c.204C>G (p.Ile68Met) c.212C>G n.160C>G c.2625C>G (p.Ile875Met) c.2616C>G (p.Ile872Met) c.2643C>G (p.Ile881Met) c.2640C>G (p.Ile880Met) c.2622C>G (p.Ile874Met) c.2565C>G (p.Ile855Met) c.2499C>G (p.Ile833Met) c.1065C>G (p.Ile355Met) c.417C>G (p.Ile139Met) c.2478C>G (p.Ile826Met) c.2613C>G (p.Ile871Met) c.2619C>G (p.Ile873Met) c.2535C>G (p.Ile845Met) c.2463C>G (p.Ile821Met) c.2397C>G (p.Ile799Met) c.1758C>G (p.Ile586Met) c.2376C>G (p.Ile792Met) | |
9 | g.137800906C>T | CA5375019 | EHMT1 | c.2634C>T (p.Ile878=) c.2520C>T (p.Ile840=) c.2541C>T (p.Ile847=) c.2674C>T (n.2674C>T) c.528C>T (p.Ile176=) c.312C>T (p.Ile104=) c.1491C>T (p.Ile497=) c.204C>T (p.Ile68=) c.212C>T n.160C>T c.2625C>T (p.Ile875=) c.2616C>T (p.Ile872=) c.2643C>T (p.Ile881=) c.2640C>T (p.Ile880=) c.2622C>T (p.Ile874=) c.2565C>T (p.Ile855=) c.2499C>T (p.Ile833=) c.1065C>T (p.Ile355=) c.417C>T (p.Ile139=) c.2478C>T (p.Ile826=) c.2613C>T (p.Ile871=) c.2619C>T (p.Ile873=) c.2535C>T (p.Ile845=) c.2463C>T (p.Ile821=) c.2397C>T (p.Ile799=) c.1758C>T (p.Ile586=) c.2376C>T (p.Ile792=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.137800907T>A | CA375788790 | EHMT1 | c.2635T>A (p.Trp879Arg) c.2521T>A (p.Trp841Arg) c.2542T>A (p.Trp848Arg) c.2675T>A (n.2675T>A) c.529T>A (p.Trp177Arg) c.313T>A (p.Trp105Arg) c.1492T>A (p.Trp498Arg) c.205T>A (p.Trp69Arg) c.213T>A n.161T>A c.2626T>A (p.Trp876Arg) c.2617T>A (p.Trp873Arg) c.2644T>A (p.Trp882Arg) c.2641T>A (p.Trp881Arg) c.2623T>A (p.Trp875Arg) c.2566T>A (p.Trp856Arg) c.2500T>A (p.Trp834Arg) c.1066T>A (p.Trp356Arg) c.418T>A (p.Trp140Arg) c.2479T>A (p.Trp827Arg) c.2614T>A (p.Trp872Arg) c.2620T>A (p.Trp874Arg) c.2536T>A (p.Trp846Arg) c.2464T>A (p.Trp822Arg) c.2398T>A (p.Trp800Arg) c.1759T>A (p.Trp587Arg) c.2377T>A (p.Trp793Arg) | |
9 | g.137800907T>C | CA375788791 | EHMT1 | c.2635T>C (p.Trp879Arg) c.2521T>C (p.Trp841Arg) c.2542T>C (p.Trp848Arg) c.2675T>C (n.2675T>C) c.529T>C (p.Trp177Arg) c.313T>C (p.Trp105Arg) c.1492T>C (p.Trp498Arg) c.205T>C (p.Trp69Arg) c.213T>C n.161T>C c.2626T>C (p.Trp876Arg) c.2617T>C (p.Trp873Arg) c.2644T>C (p.Trp882Arg) c.2641T>C (p.Trp881Arg) c.2623T>C (p.Trp875Arg) c.2566T>C (p.Trp856Arg) c.2500T>C (p.Trp834Arg) c.1066T>C (p.Trp356Arg) c.418T>C (p.Trp140Arg) c.2479T>C (p.Trp827Arg) c.2614T>C (p.Trp872Arg) c.2620T>C (p.Trp874Arg) c.2536T>C (p.Trp846Arg) c.2464T>C (p.Trp822Arg) c.2398T>C (p.Trp800Arg) c.1759T>C (p.Trp587Arg) c.2377T>C (p.Trp793Arg) | |
9 | g.137800907T>G | CA375788793 | EHMT1 | c.2635T>G (p.Trp879Gly) c.2521T>G (p.Trp841Gly) c.2542T>G (p.Trp848Gly) c.2675T>G (n.2675T>G) c.529T>G (p.Trp177Gly) c.313T>G (p.Trp105Gly) c.1492T>G (p.Trp498Gly) c.205T>G (p.Trp69Gly) c.213T>G n.161T>G c.2626T>G (p.Trp876Gly) c.2617T>G (p.Trp873Gly) c.2644T>G (p.Trp882Gly) c.2641T>G (p.Trp881Gly) c.2623T>G (p.Trp875Gly) c.2566T>G (p.Trp856Gly) c.2500T>G (p.Trp834Gly) c.1066T>G (p.Trp356Gly) c.418T>G (p.Trp140Gly) c.2479T>G (p.Trp827Gly) c.2614T>G (p.Trp872Gly) c.2620T>G (p.Trp874Gly) c.2536T>G (p.Trp846Gly) c.2464T>G (p.Trp822Gly) c.2398T>G (p.Trp800Gly) c.1759T>G (p.Trp587Gly) c.2377T>G (p.Trp793Gly) | |
9 | g.137800908G>A | CA375788795 | EHMT1 | c.2636G>A (p.Trp879Ter) c.2522G>A (p.Trp841Ter) c.2543G>A (p.Trp848Ter) c.2676G>A (n.2676G>A) c.530G>A (p.Trp177Ter) c.314G>A (p.Trp105Ter) c.1493G>A (p.Trp498Ter) c.206G>A (p.Trp69Ter) c.214G>A n.162G>A c.2627G>A (p.Trp876Ter) c.2618G>A (p.Trp873Ter) c.2645G>A (p.Trp882Ter) c.2642G>A (p.Trp881Ter) c.2624G>A (p.Trp875Ter) c.2567G>A (p.Trp856Ter) c.2501G>A (p.Trp834Ter) c.1067G>A (p.Trp356Ter) c.419G>A (p.Trp140Ter) c.2480G>A (p.Trp827Ter) c.2615G>A (p.Trp872Ter) c.2621G>A (p.Trp874Ter) c.2537G>A (p.Trp846Ter) c.2465G>A (p.Trp822Ter) c.2399G>A (p.Trp800Ter) c.1760G>A (p.Trp587Ter) c.2378G>A (p.Trp793Ter) | |
9 | g.137800908G>C | CA375788796 | EHMT1 | c.2636G>C (p.Trp879Ser) c.2522G>C (p.Trp841Ser) c.2543G>C (p.Trp848Ser) c.2676G>C (n.2676G>C) c.530G>C (p.Trp177Ser) c.314G>C (p.Trp105Ser) c.1493G>C (p.Trp498Ser) c.206G>C (p.Trp69Ser) c.214G>C n.162G>C c.2627G>C (p.Trp876Ser) c.2618G>C (p.Trp873Ser) c.2645G>C (p.Trp882Ser) c.2642G>C (p.Trp881Ser) c.2624G>C (p.Trp875Ser) c.2567G>C (p.Trp856Ser) c.2501G>C (p.Trp834Ser) c.1067G>C (p.Trp356Ser) c.419G>C (p.Trp140Ser) c.2480G>C (p.Trp827Ser) c.2615G>C (p.Trp872Ser) c.2621G>C (p.Trp874Ser) c.2537G>C (p.Trp846Ser) c.2465G>C (p.Trp822Ser) c.2399G>C (p.Trp800Ser) c.1760G>C (p.Trp587Ser) c.2378G>C (p.Trp793Ser) | |
9 | g.137800908G>T | CA375788798 | EHMT1 | c.2636G>T (p.Trp879Leu) c.2522G>T (p.Trp841Leu) c.2543G>T (p.Trp848Leu) c.2676G>T (n.2676G>T) c.530G>T (p.Trp177Leu) c.314G>T (p.Trp105Leu) c.1493G>T (p.Trp498Leu) c.206G>T (p.Trp69Leu) c.214G>T n.162G>T c.2627G>T (p.Trp876Leu) c.2618G>T (p.Trp873Leu) c.2645G>T (p.Trp882Leu) c.2642G>T (p.Trp881Leu) c.2624G>T (p.Trp875Leu) c.2567G>T (p.Trp856Leu) c.2501G>T (p.Trp834Leu) c.1067G>T (p.Trp356Leu) c.419G>T (p.Trp140Leu) c.2480G>T (p.Trp827Leu) c.2615G>T (p.Trp872Leu) c.2621G>T (p.Trp874Leu) c.2537G>T (p.Trp846Leu) c.2465G>T (p.Trp822Leu) c.2399G>T (p.Trp800Leu) c.1760G>T (p.Trp587Leu) c.2378G>T (p.Trp793Leu) | |
9 | g.137800909G>A | CA375788803 | EHMT1 | c.2637G>A (p.Trp879Ter) c.2523G>A (p.Trp841Ter) c.2544G>A (p.Trp848Ter) c.2677G>A (n.2677G>A) c.531G>A (p.Trp177Ter) c.315G>A (p.Trp105Ter) c.1494G>A (p.Trp498Ter) c.207G>A (p.Trp69Ter) c.215G>A n.163G>A c.2628G>A (p.Trp876Ter) c.2619G>A (p.Trp873Ter) c.2646G>A (p.Trp882Ter) c.2643G>A (p.Trp881Ter) c.2625G>A (p.Trp875Ter) c.2568G>A (p.Trp856Ter) c.2502G>A (p.Trp834Ter) c.1068G>A (p.Trp356Ter) c.420G>A (p.Trp140Ter) c.2481G>A (p.Trp827Ter) c.2616G>A (p.Trp872Ter) c.2622G>A (p.Trp874Ter) c.2538G>A (p.Trp846Ter) c.2466G>A (p.Trp822Ter) c.2400G>A (p.Trp800Ter) c.1761G>A (p.Trp587Ter) c.2379G>A (p.Trp793Ter) | |
9 | g.137800909G>C | CA375788804 | EHMT1 | c.2637G>C (p.Trp879Cys) c.2523G>C (p.Trp841Cys) c.2544G>C (p.Trp848Cys) c.2677G>C (n.2677G>C) c.531G>C (p.Trp177Cys) c.315G>C (p.Trp105Cys) c.1494G>C (p.Trp498Cys) c.207G>C (p.Trp69Cys) c.215G>C n.163G>C c.2628G>C (p.Trp876Cys) c.2619G>C (p.Trp873Cys) c.2646G>C (p.Trp882Cys) c.2643G>C (p.Trp881Cys) c.2625G>C (p.Trp875Cys) c.2568G>C (p.Trp856Cys) c.2502G>C (p.Trp834Cys) c.1068G>C (p.Trp356Cys) c.420G>C (p.Trp140Cys) c.2481G>C (p.Trp827Cys) c.2616G>C (p.Trp872Cys) c.2622G>C (p.Trp874Cys) c.2538G>C (p.Trp846Cys) c.2466G>C (p.Trp822Cys) c.2400G>C (p.Trp800Cys) c.1761G>C (p.Trp587Cys) c.2379G>C (p.Trp793Cys) | |
9 | g.137800909G>T | CA375788802 | EHMT1 | c.2637G>T (p.Trp879Cys) c.2523G>T (p.Trp841Cys) c.2544G>T (p.Trp848Cys) c.2677G>T (n.2677G>T) c.531G>T (p.Trp177Cys) c.315G>T (p.Trp105Cys) c.1494G>T (p.Trp498Cys) c.207G>T (p.Trp69Cys) c.215G>T n.163G>T c.2628G>T (p.Trp876Cys) c.2619G>T (p.Trp873Cys) c.2646G>T (p.Trp882Cys) c.2643G>T (p.Trp881Cys) c.2625G>T (p.Trp875Cys) c.2568G>T (p.Trp856Cys) c.2502G>T (p.Trp834Cys) c.1068G>T (p.Trp356Cys) c.420G>T (p.Trp140Cys) c.2481G>T (p.Trp827Cys) c.2616G>T (p.Trp872Cys) c.2622G>T (p.Trp874Cys) c.2538G>T (p.Trp846Cys) c.2466G>T (p.Trp822Cys) c.2400G>T (p.Trp800Cys) c.1761G>T (p.Trp587Cys) c.2379G>T (p.Trp793Cys) | |
9 | g.137800910G>A | CA375788807 | EHMT1 | c.2638G>A (p.Ala880Thr) c.2524G>A (p.Ala842Thr) c.2545G>A (p.Ala849Thr) c.2678G>A (n.2678G>A) c.532G>A (p.Ala178Thr) c.316G>A (p.Ala106Thr) c.1495G>A (p.Ala499Thr) c.208G>A (p.Ala70Thr) c.216G>A n.164G>A c.2629G>A (p.Ala877Thr) c.2620G>A (p.Ala874Thr) c.2647G>A (p.Ala883Thr) c.2644G>A (p.Ala882Thr) c.2626G>A (p.Ala876Thr) c.2569G>A (p.Ala857Thr) c.2503G>A (p.Ala835Thr) c.1069G>A (p.Ala357Thr) c.421G>A (p.Ala141Thr) c.2482G>A (p.Ala828Thr) c.2617G>A (p.Ala873Thr) c.2623G>A (p.Ala875Thr) c.2539G>A (p.Ala847Thr) c.2467G>A (p.Ala823Thr) c.2401G>A (p.Ala801Thr) c.1762G>A (p.Ala588Thr) c.2380G>A (p.Ala794Thr) | |
9 | g.137800910G>C | CA375788806 | EHMT1 | c.2638G>C (p.Ala880Pro) c.2524G>C (p.Ala842Pro) c.2545G>C (p.Ala849Pro) c.2678G>C (n.2678G>C) c.532G>C (p.Ala178Pro) c.316G>C (p.Ala106Pro) c.1495G>C (p.Ala499Pro) c.208G>C (p.Ala70Pro) c.216G>C n.164G>C c.2629G>C (p.Ala877Pro) c.2620G>C (p.Ala874Pro) c.2647G>C (p.Ala883Pro) c.2644G>C (p.Ala882Pro) c.2626G>C (p.Ala876Pro) c.2569G>C (p.Ala857Pro) c.2503G>C (p.Ala835Pro) c.1069G>C (p.Ala357Pro) c.421G>C (p.Ala141Pro) c.2482G>C (p.Ala828Pro) c.2617G>C (p.Ala873Pro) c.2623G>C (p.Ala875Pro) c.2539G>C (p.Ala847Pro) c.2467G>C (p.Ala823Pro) c.2401G>C (p.Ala801Pro) c.1762G>C (p.Ala588Pro) c.2380G>C (p.Ala794Pro) | |
9 | g.137800910G>T | CA375788808 | EHMT1 | c.2638G>T (p.Ala880Ser) c.2524G>T (p.Ala842Ser) c.2545G>T (p.Ala849Ser) c.2678G>T (n.2678G>T) c.532G>T (p.Ala178Ser) c.316G>T (p.Ala106Ser) c.1495G>T (p.Ala499Ser) c.208G>T (p.Ala70Ser) c.216G>T n.164G>T c.2629G>T (p.Ala877Ser) c.2620G>T (p.Ala874Ser) c.2647G>T (p.Ala883Ser) c.2644G>T (p.Ala882Ser) c.2626G>T (p.Ala876Ser) c.2569G>T (p.Ala857Ser) c.2503G>T (p.Ala835Ser) c.1069G>T (p.Ala357Ser) c.421G>T (p.Ala141Ser) c.2482G>T (p.Ala828Ser) c.2617G>T (p.Ala873Ser) c.2623G>T (p.Ala875Ser) c.2539G>T (p.Ala847Ser) c.2467G>T (p.Ala823Ser) c.2401G>T (p.Ala801Ser) c.1762G>T (p.Ala588Ser) c.2380G>T (p.Ala794Ser) | |
9 | g.137800911C>A | CA375788810 | EHMT1 | c.2639C>A (p.Ala880Asp) c.2525C>A (p.Ala842Asp) c.2546C>A (p.Ala849Asp) c.2679C>A (n.2679C>A) c.533C>A (p.Ala178Asp) c.317C>A (p.Ala106Asp) c.1496C>A (p.Ala499Asp) c.209C>A (p.Ala70Asp) c.217C>A n.165C>A c.2630C>A (p.Ala877Asp) c.2621C>A (p.Ala874Asp) c.2648C>A (p.Ala883Asp) c.2645C>A (p.Ala882Asp) c.2627C>A (p.Ala876Asp) c.2570C>A (p.Ala857Asp) c.2504C>A (p.Ala835Asp) c.1070C>A (p.Ala357Asp) c.422C>A (p.Ala141Asp) c.2483C>A (p.Ala828Asp) c.2618C>A (p.Ala873Asp) c.2624C>A (p.Ala875Asp) c.2540C>A (p.Ala847Asp) c.2468C>A (p.Ala823Asp) c.2402C>A (p.Ala801Asp) c.1763C>A (p.Ala588Asp) c.2381C>A (p.Ala794Asp) | |
9 | g.137800911C>G | CA375788813 | EHMT1 | c.2639C>G (p.Ala880Gly) c.2525C>G (p.Ala842Gly) c.2546C>G (p.Ala849Gly) c.2679C>G (n.2679C>G) c.533C>G (p.Ala178Gly) c.317C>G (p.Ala106Gly) c.1496C>G (p.Ala499Gly) c.209C>G (p.Ala70Gly) c.217C>G n.165C>G c.2630C>G (p.Ala877Gly) c.2621C>G (p.Ala874Gly) c.2648C>G (p.Ala883Gly) c.2645C>G (p.Ala882Gly) c.2627C>G (p.Ala876Gly) c.2570C>G (p.Ala857Gly) c.2504C>G (p.Ala835Gly) c.1070C>G (p.Ala357Gly) c.422C>G (p.Ala141Gly) c.2483C>G (p.Ala828Gly) c.2618C>G (p.Ala873Gly) c.2624C>G (p.Ala875Gly) c.2540C>G (p.Ala847Gly) c.2468C>G (p.Ala823Gly) c.2402C>G (p.Ala801Gly) c.1763C>G (p.Ala588Gly) c.2381C>G (p.Ala794Gly) | |
9 | g.137800911C>T | CA375788811 | EHMT1 | c.2639C>T (p.Ala880Val) c.2525C>T (p.Ala842Val) c.2546C>T (p.Ala849Val) c.2679C>T (n.2679C>T) c.533C>T (p.Ala178Val) c.317C>T (p.Ala106Val) c.1496C>T (p.Ala499Val) c.209C>T (p.Ala70Val) c.217C>T n.165C>T c.2630C>T (p.Ala877Val) c.2621C>T (p.Ala874Val) c.2648C>T (p.Ala883Val) c.2645C>T (p.Ala882Val) c.2627C>T (p.Ala876Val) c.2570C>T (p.Ala857Val) c.2504C>T (p.Ala835Val) c.1070C>T (p.Ala357Val) c.422C>T (p.Ala141Val) c.2483C>T (p.Ala828Val) c.2618C>T (p.Ala873Val) c.2624C>T (p.Ala875Val) c.2540C>T (p.Ala847Val) c.2468C>T (p.Ala823Val) c.2402C>T (p.Ala801Val) c.1763C>T (p.Ala588Val) c.2381C>T (p.Ala794Val) | |
9 | g.137800912C>A | CA467877609 | EHMT1 | c.2640C>A (p.Ala880=) c.2526C>A (p.Ala842=) c.2547C>A (p.Ala849=) c.2680C>A (n.2680C>A) c.534C>A (p.Ala178=) c.318C>A (p.Ala106=) c.1497C>A (p.Ala499=) c.210C>A (p.Ala70=) c.218C>A n.166C>A c.2631C>A (p.Ala877=) c.2622C>A (p.Ala874=) c.2649C>A (p.Ala883=) c.2646C>A (p.Ala882=) c.2628C>A (p.Ala876=) c.2571C>A (p.Ala857=) c.2505C>A (p.Ala835=) c.1071C>A (p.Ala357=) c.423C>A (p.Ala141=) c.2484C>A (p.Ala828=) c.2619C>A (p.Ala873=) c.2625C>A (p.Ala875=) c.2541C>A (p.Ala847=) c.2469C>A (p.Ala823=) c.2403C>A (p.Ala801=) c.1764C>A (p.Ala588=) c.2382C>A (p.Ala794=) | |
9 | g.137800912C>G | CA467877611 | EHMT1 | c.2640C>G (p.Ala880=) c.2526C>G (p.Ala842=) c.2547C>G (p.Ala849=) c.2680C>G (n.2680C>G) c.534C>G (p.Ala178=) c.318C>G (p.Ala106=) c.1497C>G (p.Ala499=) c.210C>G (p.Ala70=) c.218C>G n.166C>G c.2631C>G (p.Ala877=) c.2622C>G (p.Ala874=) c.2649C>G (p.Ala883=) c.2646C>G (p.Ala882=) c.2628C>G (p.Ala876=) c.2571C>G (p.Ala857=) c.2505C>G (p.Ala835=) c.1071C>G (p.Ala357=) c.423C>G (p.Ala141=) c.2484C>G (p.Ala828=) c.2619C>G (p.Ala873=) c.2625C>G (p.Ala875=) c.2541C>G (p.Ala847=) c.2469C>G (p.Ala823=) c.2403C>G (p.Ala801=) c.1764C>G (p.Ala588=) c.2382C>G (p.Ala794=) | |
9 | g.137800912C>T | CA467877610 | EHMT1 | c.2640C>T (p.Ala880=) c.2526C>T (p.Ala842=) c.2547C>T (p.Ala849=) c.2680C>T (n.2680C>T) c.534C>T (p.Ala178=) c.318C>T (p.Ala106=) c.1497C>T (p.Ala499=) c.210C>T (p.Ala70=) c.218C>T n.166C>T c.2631C>T (p.Ala877=) c.2622C>T (p.Ala874=) c.2649C>T (p.Ala883=) c.2646C>T (p.Ala882=) c.2628C>T (p.Ala876=) c.2571C>T (p.Ala857=) c.2505C>T (p.Ala835=) c.1071C>T (p.Ala357=) c.423C>T (p.Ala141=) c.2484C>T (p.Ala828=) c.2619C>T (p.Ala873=) c.2625C>T (p.Ala875=) c.2541C>T (p.Ala847=) c.2469C>T (p.Ala823=) c.2403C>T (p.Ala801=) c.1764C>T (p.Ala588=) c.2382C>T (p.Ala794=) | |
9 | g.137800913A= | CA1884679272 | EHMT1 | c.2641A= (p.Thr881=) c.2527A= (p.Thr843=) c.2548A= (p.Thr850=) c.2681A= (n.2681A=) c.535A= (p.Thr179=) c.319A= (p.Thr107=) c.1498A= (p.Thr500=) c.211A= (p.Thr71=) c.219A= n.167A= c.2632A= (p.Thr878=) c.2623A= (p.Thr875=) c.2650A= (p.Thr884=) c.2647A= (p.Thr883=) c.2629A= (p.Thr877=) c.2572A= (p.Thr858=) c.2506A= (p.Thr836=) c.1072A= (p.Thr358=) c.424A= (p.Thr142=) c.2485A= (p.Thr829=) c.2620A= (p.Thr874=) c.2626A= (p.Thr876=) c.2542A= (p.Thr848=) c.2470A= (p.Thr824=) c.2404A= (p.Thr802=) c.1765A= (p.Thr589=) c.2383A= (p.Thr795=) | |
9 | g.137800913A>C | CA375788815 | EHMT1 | c.2641A>C (p.Thr881Pro) c.2527A>C (p.Thr843Pro) c.2548A>C (p.Thr850Pro) c.2681A>C (n.2681A>C) c.535A>C (p.Thr179Pro) c.319A>C (p.Thr107Pro) c.1498A>C (p.Thr500Pro) c.211A>C (p.Thr71Pro) c.219A>C n.167A>C c.2632A>C (p.Thr878Pro) c.2623A>C (p.Thr875Pro) c.2650A>C (p.Thr884Pro) c.2647A>C (p.Thr883Pro) c.2629A>C (p.Thr877Pro) c.2572A>C (p.Thr858Pro) c.2506A>C (p.Thr836Pro) c.1072A>C (p.Thr358Pro) c.424A>C (p.Thr142Pro) c.2485A>C (p.Thr829Pro) c.2620A>C (p.Thr874Pro) c.2626A>C (p.Thr876Pro) c.2542A>C (p.Thr848Pro) c.2470A>C (p.Thr824Pro) c.2404A>C (p.Thr802Pro) c.1765A>C (p.Thr589Pro) c.2383A>C (p.Thr795Pro) | |
9 | g.137800913A>G | CA375788819 | EHMT1 | c.2641A>G (p.Thr881Ala) c.2527A>G (p.Thr843Ala) c.2548A>G (p.Thr850Ala) c.2681A>G (n.2681A>G) c.535A>G (p.Thr179Ala) c.319A>G (p.Thr107Ala) c.1498A>G (p.Thr500Ala) c.211A>G (p.Thr71Ala) c.219A>G n.167A>G c.2632A>G (p.Thr878Ala) c.2623A>G (p.Thr875Ala) c.2650A>G (p.Thr884Ala) c.2647A>G (p.Thr883Ala) c.2629A>G (p.Thr877Ala) c.2572A>G (p.Thr858Ala) c.2506A>G (p.Thr836Ala) c.1072A>G (p.Thr358Ala) c.424A>G (p.Thr142Ala) c.2485A>G (p.Thr829Ala) c.2620A>G (p.Thr874Ala) c.2626A>G (p.Thr876Ala) c.2542A>G (p.Thr848Ala) c.2470A>G (p.Thr824Ala) c.2404A>G (p.Thr802Ala) c.1765A>G (p.Thr589Ala) c.2383A>G (p.Thr795Ala) | ClinVar dbSNP |
9 | g.137800913A>T | CA375788816 | EHMT1 | c.2641A>T (p.Thr881Ser) c.2527A>T (p.Thr843Ser) c.2548A>T (p.Thr850Ser) c.2681A>T (n.2681A>T) c.535A>T (p.Thr179Ser) c.319A>T (p.Thr107Ser) c.1498A>T (p.Thr500Ser) c.211A>T (p.Thr71Ser) c.219A>T n.167A>T c.2632A>T (p.Thr878Ser) c.2623A>T (p.Thr875Ser) c.2650A>T (p.Thr884Ser) c.2647A>T (p.Thr883Ser) c.2629A>T (p.Thr877Ser) c.2572A>T (p.Thr858Ser) c.2506A>T (p.Thr836Ser) c.1072A>T (p.Thr358Ser) c.424A>T (p.Thr142Ser) c.2485A>T (p.Thr829Ser) c.2620A>T (p.Thr874Ser) c.2626A>T (p.Thr876Ser) c.2542A>T (p.Thr848Ser) c.2470A>T (p.Thr824Ser) c.2404A>T (p.Thr802Ser) c.1765A>T (p.Thr589Ser) c.2383A>T (p.Thr795Ser) | |
9 | g.137800914C>A | CA375788821 | EHMT1 | c.2642C>A (p.Thr881Lys) c.2528C>A (p.Thr843Lys) c.2549C>A (p.Thr850Lys) c.2682C>A (n.2682C>A) c.536C>A (p.Thr179Lys) c.320C>A (p.Thr107Lys) c.1499C>A (p.Thr500Lys) c.212C>A (p.Thr71Lys) c.220C>A n.168C>A c.2633C>A (p.Thr878Lys) c.2624C>A (p.Thr875Lys) c.2651C>A (p.Thr884Lys) c.2648C>A (p.Thr883Lys) c.2630C>A (p.Thr877Lys) c.2573C>A (p.Thr858Lys) c.2507C>A (p.Thr836Lys) c.1073C>A (p.Thr358Lys) c.425C>A (p.Thr142Lys) c.2486C>A (p.Thr829Lys) c.2621C>A (p.Thr874Lys) c.2627C>A (p.Thr876Lys) c.2543C>A (p.Thr848Lys) c.2471C>A (p.Thr824Lys) c.2405C>A (p.Thr802Lys) c.1766C>A (p.Thr589Lys) c.2384C>A (p.Thr795Lys) | |
9 | g.137800914C= | CA1884679273 | EHMT1 | c.2642C= (p.Thr881=) c.2528C= (p.Thr843=) c.2549C= (p.Thr850=) c.2682C= (n.2682C=) c.536C= (p.Thr179=) c.320C= (p.Thr107=) c.1499C= (p.Thr500=) c.212C= (p.Thr71=) c.220C= n.168C= c.2633C= (p.Thr878=) c.2624C= (p.Thr875=) c.2651C= (p.Thr884=) c.2648C= (p.Thr883=) c.2630C= (p.Thr877=) c.2573C= (p.Thr858=) c.2507C= (p.Thr836=) c.1073C= (p.Thr358=) c.425C= (p.Thr142=) c.2486C= (p.Thr829=) c.2621C= (p.Thr874=) c.2627C= (p.Thr876=) c.2543C= (p.Thr848=) c.2471C= (p.Thr824=) c.2405C= (p.Thr802=) c.1766C= (p.Thr589=) c.2384C= (p.Thr795=) | |
9 | g.137800914C>G | CA375788823 | EHMT1 | c.2642C>G (p.Thr881Arg) c.2528C>G (p.Thr843Arg) c.2549C>G (p.Thr850Arg) c.2682C>G (n.2682C>G) c.536C>G (p.Thr179Arg) c.320C>G (p.Thr107Arg) c.1499C>G (p.Thr500Arg) c.212C>G (p.Thr71Arg) c.220C>G n.168C>G c.2633C>G (p.Thr878Arg) c.2624C>G (p.Thr875Arg) c.2651C>G (p.Thr884Arg) c.2648C>G (p.Thr883Arg) c.2630C>G (p.Thr877Arg) c.2573C>G (p.Thr858Arg) c.2507C>G (p.Thr836Arg) c.1073C>G (p.Thr358Arg) c.425C>G (p.Thr142Arg) c.2486C>G (p.Thr829Arg) c.2621C>G (p.Thr874Arg) c.2627C>G (p.Thr876Arg) c.2543C>G (p.Thr848Arg) c.2471C>G (p.Thr824Arg) c.2405C>G (p.Thr802Arg) c.1766C>G (p.Thr589Arg) c.2384C>G (p.Thr795Arg) | |
9 | g.137800914C>T | CA207397 | EHMT1 | c.2642C>T (p.Thr881Ile) c.2528C>T (p.Thr843Ile) c.2549C>T (p.Thr850Ile) c.2682C>T (n.2682C>T) c.536C>T (p.Thr179Ile) c.320C>T (p.Thr107Ile) c.1499C>T (p.Thr500Ile) c.212C>T (p.Thr71Ile) c.220C>T n.168C>T c.2633C>T (p.Thr878Ile) c.2624C>T (p.Thr875Ile) c.2651C>T (p.Thr884Ile) c.2648C>T (p.Thr883Ile) c.2630C>T (p.Thr877Ile) c.2573C>T (p.Thr858Ile) c.2507C>T (p.Thr836Ile) c.1073C>T (p.Thr358Ile) c.425C>T (p.Thr142Ile) c.2486C>T (p.Thr829Ile) c.2621C>T (p.Thr874Ile) c.2627C>T (p.Thr876Ile) c.2543C>T (p.Thr848Ile) c.2471C>T (p.Thr824Ile) c.2405C>T (p.Thr802Ile) c.1766C>T (p.Thr589Ile) c.2384C>T (p.Thr795Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.137800915A>C | CA467877614 | EHMT1 | c.2643A>C (p.Thr881=) c.2529A>C (p.Thr843=) c.2550A>C (p.Thr850=) c.2683A>C (n.2683A>C) c.537A>C (p.Thr179=) c.321A>C (p.Thr107=) c.1500A>C (p.Thr500=) c.213A>C (p.Thr71=) c.221A>C n.169A>C c.2634A>C (p.Thr878=) c.2625A>C (p.Thr875=) c.2652A>C (p.Thr884=) c.2649A>C (p.Thr883=) c.2631A>C (p.Thr877=) c.2574A>C (p.Thr858=) c.2508A>C (p.Thr836=) c.1074A>C (p.Thr358=) c.426A>C (p.Thr142=) c.2487A>C (p.Thr829=) c.2622A>C (p.Thr874=) c.2628A>C (p.Thr876=) c.2544A>C (p.Thr848=) c.2472A>C (p.Thr824=) c.2406A>C (p.Thr802=) c.1767A>C (p.Thr589=) c.2385A>C (p.Thr795=) | |
9 | g.137800915A>G | CA467877615 | EHMT1 | c.2643A>G (p.Thr881=) c.2529A>G (p.Thr843=) c.2550A>G (p.Thr850=) c.2683A>G (n.2683A>G) c.537A>G (p.Thr179=) c.321A>G (p.Thr107=) c.1500A>G (p.Thr500=) c.213A>G (p.Thr71=) c.221A>G n.169A>G c.2634A>G (p.Thr878=) c.2625A>G (p.Thr875=) c.2652A>G (p.Thr884=) c.2649A>G (p.Thr883=) c.2631A>G (p.Thr877=) c.2574A>G (p.Thr858=) c.2508A>G (p.Thr836=) c.1074A>G (p.Thr358=) c.426A>G (p.Thr142=) c.2487A>G (p.Thr829=) c.2622A>G (p.Thr874=) c.2628A>G (p.Thr876=) c.2544A>G (p.Thr848=) c.2472A>G (p.Thr824=) c.2406A>G (p.Thr802=) c.1767A>G (p.Thr589=) c.2385A>G (p.Thr795=) | dbSNP |
9 | g.137800915A>T | CA467877617 | EHMT1 | c.2643A>T (p.Thr881=) c.2529A>T (p.Thr843=) c.2550A>T (p.Thr850=) c.2683A>T (n.2683A>T) c.537A>T (p.Thr179=) c.321A>T (p.Thr107=) c.1500A>T (p.Thr500=) c.213A>T (p.Thr71=) c.221A>T n.169A>T c.2634A>T (p.Thr878=) c.2625A>T (p.Thr875=) c.2652A>T (p.Thr884=) c.2649A>T (p.Thr883=) c.2631A>T (p.Thr877=) c.2574A>T (p.Thr858=) c.2508A>T (p.Thr836=) c.1074A>T (p.Thr358=) c.426A>T (p.Thr142=) c.2487A>T (p.Thr829=) c.2622A>T (p.Thr874=) c.2628A>T (p.Thr876=) c.2544A>T (p.Thr848=) c.2472A>T (p.Thr824=) c.2406A>T (p.Thr802=) c.1767A>T (p.Thr589=) c.2385A>T (p.Thr795=) | |
9 | g.137800916G>A | CA375788826 | EHMT1 | c.2644G>A (p.Glu882Lys) c.2530G>A (p.Glu844Lys) c.2551G>A (p.Glu851Lys) c.2684G>A (n.2684G>A) c.538G>A (p.Glu180Lys) c.322G>A (p.Glu108Lys) c.1501G>A (p.Glu501Lys) c.214G>A (p.Glu72Lys) c.222G>A n.170G>A c.2635G>A (p.Glu879Lys) c.2626G>A (p.Glu876Lys) c.2653G>A (p.Glu885Lys) c.2650G>A (p.Glu884Lys) c.2632G>A (p.Glu878Lys) c.2575G>A (p.Glu859Lys) c.2509G>A (p.Glu837Lys) c.1075G>A (p.Glu359Lys) c.427G>A (p.Glu143Lys) c.2488G>A (p.Glu830Lys) c.2623G>A (p.Glu875Lys) c.2629G>A (p.Glu877Lys) c.2545G>A (p.Glu849Lys) c.2473G>A (p.Glu825Lys) c.2407G>A (p.Glu803Lys) c.1768G>A (p.Glu590Lys) c.2386G>A (p.Glu796Lys) | |
9 | g.137800916G>C | CA375788827 | EHMT1 | c.2644G>C (p.Glu882Gln) c.2530G>C (p.Glu844Gln) c.2551G>C (p.Glu851Gln) c.2684G>C (n.2684G>C) c.538G>C (p.Glu180Gln) c.322G>C (p.Glu108Gln) c.1501G>C (p.Glu501Gln) c.214G>C (p.Glu72Gln) c.222G>C n.170G>C c.2635G>C (p.Glu879Gln) c.2626G>C (p.Glu876Gln) c.2653G>C (p.Glu885Gln) c.2650G>C (p.Glu884Gln) c.2632G>C (p.Glu878Gln) c.2575G>C (p.Glu859Gln) c.2509G>C (p.Glu837Gln) c.1075G>C (p.Glu359Gln) c.427G>C (p.Glu143Gln) c.2488G>C (p.Glu830Gln) c.2623G>C (p.Glu875Gln) c.2629G>C (p.Glu877Gln) c.2545G>C (p.Glu849Gln) c.2473G>C (p.Glu825Gln) c.2407G>C (p.Glu803Gln) c.1768G>C (p.Glu590Gln) c.2386G>C (p.Glu796Gln) | |
9 | g.137800916G>T | CA375788828 | EHMT1 | c.2644G>T (p.Glu882Ter) c.2530G>T (p.Glu844Ter) c.2551G>T (p.Glu851Ter) c.2684G>T (n.2684G>T) c.538G>T (p.Glu180Ter) c.322G>T (p.Glu108Ter) c.1501G>T (p.Glu501Ter) c.214G>T (p.Glu72Ter) c.222G>T n.170G>T c.2635G>T (p.Glu879Ter) c.2626G>T (p.Glu876Ter) c.2653G>T (p.Glu885Ter) c.2650G>T (p.Glu884Ter) c.2632G>T (p.Glu878Ter) c.2575G>T (p.Glu859Ter) c.2509G>T (p.Glu837Ter) c.1075G>T (p.Glu359Ter) c.427G>T (p.Glu143Ter) c.2488G>T (p.Glu830Ter) c.2623G>T (p.Glu875Ter) c.2629G>T (p.Glu877Ter) c.2545G>T (p.Glu849Ter) c.2473G>T (p.Glu825Ter) c.2407G>T (p.Glu803Ter) c.1768G>T (p.Glu590Ter) c.2386G>T (p.Glu796Ter) | |
9 | g.137800917A>C | CA375788830 | EHMT1 | c.2645A>C (p.Glu882Ala) c.2531A>C (p.Glu844Ala) c.2552A>C (p.Glu851Ala) c.2685A>C (n.2685A>C) c.539A>C (p.Glu180Ala) c.323A>C (p.Glu108Ala) c.1502A>C (p.Glu501Ala) c.215A>C (p.Glu72Ala) c.223A>C n.171A>C c.2636A>C (p.Glu879Ala) c.2627A>C (p.Glu876Ala) c.2654A>C (p.Glu885Ala) c.2651A>C (p.Glu884Ala) c.2633A>C (p.Glu878Ala) c.2576A>C (p.Glu859Ala) c.2510A>C (p.Glu837Ala) c.1076A>C (p.Glu359Ala) c.428A>C (p.Glu143Ala) c.2489A>C (p.Glu830Ala) c.2624A>C (p.Glu875Ala) c.2630A>C (p.Glu877Ala) c.2546A>C (p.Glu849Ala) c.2474A>C (p.Glu825Ala) c.2408A>C (p.Glu803Ala) c.1769A>C (p.Glu590Ala) c.2387A>C (p.Glu796Ala) | |
9 | g.137800917A>G | CA375788832 | EHMT1 | c.2645A>G (p.Glu882Gly) c.2531A>G (p.Glu844Gly) c.2552A>G (p.Glu851Gly) c.2685A>G (n.2685A>G) c.539A>G (p.Glu180Gly) c.323A>G (p.Glu108Gly) c.1502A>G (p.Glu501Gly) c.215A>G (p.Glu72Gly) c.223A>G n.171A>G c.2636A>G (p.Glu879Gly) c.2627A>G (p.Glu876Gly) c.2654A>G (p.Glu885Gly) c.2651A>G (p.Glu884Gly) c.2633A>G (p.Glu878Gly) c.2576A>G (p.Glu859Gly) c.2510A>G (p.Glu837Gly) c.1076A>G (p.Glu359Gly) c.428A>G (p.Glu143Gly) c.2489A>G (p.Glu830Gly) c.2624A>G (p.Glu875Gly) c.2630A>G (p.Glu877Gly) c.2546A>G (p.Glu849Gly) c.2474A>G (p.Glu825Gly) c.2408A>G (p.Glu803Gly) c.1769A>G (p.Glu590Gly) c.2387A>G (p.Glu796Gly) | |
9 | g.137800917A>T | CA375788833 | EHMT1 | c.2645A>T (p.Glu882Val) c.2531A>T (p.Glu844Val) c.2552A>T (p.Glu851Val) c.2685A>T (n.2685A>T) c.539A>T (p.Glu180Val) c.323A>T (p.Glu108Val) c.1502A>T (p.Glu501Val) c.215A>T (p.Glu72Val) c.223A>T n.171A>T c.2636A>T (p.Glu879Val) c.2627A>T (p.Glu876Val) c.2654A>T (p.Glu885Val) c.2651A>T (p.Glu884Val) c.2633A>T (p.Glu878Val) c.2576A>T (p.Glu859Val) c.2510A>T (p.Glu837Val) c.1076A>T (p.Glu359Val) c.428A>T (p.Glu143Val) c.2489A>T (p.Glu830Val) c.2624A>T (p.Glu875Val) c.2630A>T (p.Glu877Val) c.2546A>T (p.Glu849Val) c.2474A>T (p.Glu825Val) c.2408A>T (p.Glu803Val) c.1769A>T (p.Glu590Val) c.2387A>T (p.Glu796Val) | |
9 | g.137800918G>A | CA467877618 | EHMT1 | c.2646G>A (p.Glu882=) c.2532G>A (p.Glu844=) c.2553G>A (p.Glu851=) c.2686G>A (n.2686G>A) c.540G>A (p.Glu180=) c.324G>A (p.Glu108=) c.1503G>A (p.Glu501=) c.216G>A (p.Glu72=) c.224G>A n.172G>A c.2637G>A (p.Glu879=) c.2628G>A (p.Glu876=) c.2655G>A (p.Glu885=) c.2652G>A (p.Glu884=) c.2634G>A (p.Glu878=) c.2577G>A (p.Glu859=) c.2511G>A (p.Glu837=) c.1077G>A (p.Glu359=) c.429G>A (p.Glu143=) c.2490G>A (p.Glu830=) c.2625G>A (p.Glu875=) c.2631G>A (p.Glu877=) c.2547G>A (p.Glu849=) c.2475G>A (p.Glu825=) c.2409G>A (p.Glu803=) c.1770G>A (p.Glu590=) c.2388G>A (p.Glu796=) | ClinVar dbSNP |
9 | g.137800918G>C | CA375788835 | EHMT1 | c.2646G>C (p.Glu882Asp) c.2532G>C (p.Glu844Asp) c.2553G>C (p.Glu851Asp) c.2686G>C (n.2686G>C) c.540G>C (p.Glu180Asp) c.324G>C (p.Glu108Asp) c.1503G>C (p.Glu501Asp) c.216G>C (p.Glu72Asp) c.224G>C n.172G>C c.2637G>C (p.Glu879Asp) c.2628G>C (p.Glu876Asp) c.2655G>C (p.Glu885Asp) c.2652G>C (p.Glu884Asp) c.2634G>C (p.Glu878Asp) c.2577G>C (p.Glu859Asp) c.2511G>C (p.Glu837Asp) c.1077G>C (p.Glu359Asp) c.429G>C (p.Glu143Asp) c.2490G>C (p.Glu830Asp) c.2625G>C (p.Glu875Asp) c.2631G>C (p.Glu877Asp) c.2547G>C (p.Glu849Asp) c.2475G>C (p.Glu825Asp) c.2409G>C (p.Glu803Asp) c.1770G>C (p.Glu590Asp) c.2388G>C (p.Glu796Asp) | |
9 | g.137800918G>T | CA375788840 | EHMT1 | c.2646G>T (p.Glu882Asp) c.2532G>T (p.Glu844Asp) c.2553G>T (p.Glu851Asp) c.2686G>T (n.2686G>T) c.540G>T (p.Glu180Asp) c.324G>T (p.Glu108Asp) c.1503G>T (p.Glu501Asp) c.216G>T (p.Glu72Asp) c.224G>T n.172G>T c.2637G>T (p.Glu879Asp) c.2628G>T (p.Glu876Asp) c.2655G>T (p.Glu885Asp) c.2652G>T (p.Glu884Asp) c.2634G>T (p.Glu878Asp) c.2577G>T (p.Glu859Asp) c.2511G>T (p.Glu837Asp) c.1077G>T (p.Glu359Asp) c.429G>T (p.Glu143Asp) c.2490G>T (p.Glu830Asp) c.2625G>T (p.Glu875Asp) c.2631G>T (p.Glu877Asp) c.2547G>T (p.Glu849Asp) c.2475G>T (p.Glu825Asp) c.2409G>T (p.Glu803Asp) c.1770G>T (p.Glu590Asp) c.2388G>T (p.Glu796Asp) | |
9 | g.137800919T>A | CA375788846 | EHMT1 | c.2647T>A (p.Tyr883Asn) c.2533T>A (p.Tyr845Asn) c.2554T>A (p.Tyr852Asn) c.2687T>A (n.2687T>A) c.541T>A (p.Tyr181Asn) c.325T>A (p.Tyr109Asn) c.1504T>A (p.Tyr502Asn) c.217T>A (p.Tyr73Asn) c.225T>A n.173T>A c.2638T>A (p.Tyr880Asn) c.2629T>A (p.Tyr877Asn) c.2656T>A (p.Tyr886Asn) c.2653T>A (p.Tyr885Asn) c.2635T>A (p.Tyr879Asn) c.2578T>A (p.Tyr860Asn) c.2512T>A (p.Tyr838Asn) c.1078T>A (p.Tyr360Asn) c.430T>A (p.Tyr144Asn) c.2491T>A (p.Tyr831Asn) c.2626T>A (p.Tyr876Asn) c.2632T>A (p.Tyr878Asn) c.2548T>A (p.Tyr850Asn) c.2476T>A (p.Tyr826Asn) c.2410T>A (p.Tyr804Asn) c.1771T>A (p.Tyr591Asn) c.2389T>A (p.Tyr797Asn) | |
9 | g.137800919T>C | CA375788842 | EHMT1 | c.2647T>C (p.Tyr883His) c.2533T>C (p.Tyr845His) c.2554T>C (p.Tyr852His) c.2687T>C (n.2687T>C) c.541T>C (p.Tyr181His) c.325T>C (p.Tyr109His) c.1504T>C (p.Tyr502His) c.217T>C (p.Tyr73His) c.225T>C n.173T>C c.2638T>C (p.Tyr880His) c.2629T>C (p.Tyr877His) c.2656T>C (p.Tyr886His) c.2653T>C (p.Tyr885His) c.2635T>C (p.Tyr879His) c.2578T>C (p.Tyr860His) c.2512T>C (p.Tyr838His) c.1078T>C (p.Tyr360His) c.430T>C (p.Tyr144His) c.2491T>C (p.Tyr831His) c.2626T>C (p.Tyr876His) c.2632T>C (p.Tyr878His) c.2548T>C (p.Tyr850His) c.2476T>C (p.Tyr826His) c.2410T>C (p.Tyr804His) c.1771T>C (p.Tyr591His) c.2389T>C (p.Tyr797His) | |
9 | g.137800919T>G | CA375788844 | EHMT1 | c.2647T>G (p.Tyr883Asp) c.2533T>G (p.Tyr845Asp) c.2554T>G (p.Tyr852Asp) c.2687T>G (n.2687T>G) c.541T>G (p.Tyr181Asp) c.325T>G (p.Tyr109Asp) c.1504T>G (p.Tyr502Asp) c.217T>G (p.Tyr73Asp) c.225T>G n.173T>G c.2638T>G (p.Tyr880Asp) c.2629T>G (p.Tyr877Asp) c.2656T>G (p.Tyr886Asp) c.2653T>G (p.Tyr885Asp) c.2635T>G (p.Tyr879Asp) c.2578T>G (p.Tyr860Asp) c.2512T>G (p.Tyr838Asp) c.1078T>G (p.Tyr360Asp) c.430T>G (p.Tyr144Asp) c.2491T>G (p.Tyr831Asp) c.2626T>G (p.Tyr876Asp) c.2632T>G (p.Tyr878Asp) c.2548T>G (p.Tyr850Asp) c.2476T>G (p.Tyr826Asp) c.2410T>G (p.Tyr804Asp) c.1771T>G (p.Tyr591Asp) c.2389T>G (p.Tyr797Asp) | |
9 | g.137800920A>C | CA375788848 | EHMT1 | c.2648A>C (p.Tyr883Ser) c.2534A>C (p.Tyr845Ser) c.2555A>C (p.Tyr852Ser) c.2688A>C (n.2688A>C) c.542A>C (p.Tyr181Ser) c.326A>C (p.Tyr109Ser) c.1505A>C (p.Tyr502Ser) c.218A>C (p.Tyr73Ser) c.226A>C n.174A>C c.2639A>C (p.Tyr880Ser) c.2630A>C (p.Tyr877Ser) c.2657A>C (p.Tyr886Ser) c.2654A>C (p.Tyr885Ser) c.2636A>C (p.Tyr879Ser) c.2579A>C (p.Tyr860Ser) c.2513A>C (p.Tyr838Ser) c.1079A>C (p.Tyr360Ser) c.431A>C (p.Tyr144Ser) c.2492A>C (p.Tyr831Ser) c.2627A>C (p.Tyr876Ser) c.2633A>C (p.Tyr878Ser) c.2549A>C (p.Tyr850Ser) c.2477A>C (p.Tyr826Ser) c.2411A>C (p.Tyr804Ser) c.1772A>C (p.Tyr591Ser) c.2390A>C (p.Tyr797Ser) | |
9 | g.137800920A>G | CA375788850 | EHMT1 | c.2648A>G (p.Tyr883Cys) c.2534A>G (p.Tyr845Cys) c.2555A>G (p.Tyr852Cys) c.2688A>G (n.2688A>G) c.542A>G (p.Tyr181Cys) c.326A>G (p.Tyr109Cys) c.1505A>G (p.Tyr502Cys) c.218A>G (p.Tyr73Cys) c.226A>G n.174A>G c.2639A>G (p.Tyr880Cys) c.2630A>G (p.Tyr877Cys) c.2657A>G (p.Tyr886Cys) c.2654A>G (p.Tyr885Cys) c.2636A>G (p.Tyr879Cys) c.2579A>G (p.Tyr860Cys) c.2513A>G (p.Tyr838Cys) c.1079A>G (p.Tyr360Cys) c.431A>G (p.Tyr144Cys) c.2492A>G (p.Tyr831Cys) c.2627A>G (p.Tyr876Cys) c.2633A>G (p.Tyr878Cys) c.2549A>G (p.Tyr850Cys) c.2477A>G (p.Tyr826Cys) c.2411A>G (p.Tyr804Cys) c.1772A>G (p.Tyr591Cys) c.2390A>G (p.Tyr797Cys) | |
9 | g.137800920A>T | CA375788852 | EHMT1 | c.2648A>T (p.Tyr883Phe) c.2534A>T (p.Tyr845Phe) c.2555A>T (p.Tyr852Phe) c.2688A>T (n.2688A>T) c.542A>T (p.Tyr181Phe) c.326A>T (p.Tyr109Phe) c.1505A>T (p.Tyr502Phe) c.218A>T (p.Tyr73Phe) c.226A>T n.174A>T c.2639A>T (p.Tyr880Phe) c.2630A>T (p.Tyr877Phe) c.2657A>T (p.Tyr886Phe) c.2654A>T (p.Tyr885Phe) c.2636A>T (p.Tyr879Phe) c.2579A>T (p.Tyr860Phe) c.2513A>T (p.Tyr838Phe) c.1079A>T (p.Tyr360Phe) c.431A>T (p.Tyr144Phe) c.2492A>T (p.Tyr831Phe) c.2627A>T (p.Tyr876Phe) c.2633A>T (p.Tyr878Phe) c.2549A>T (p.Tyr850Phe) c.2477A>T (p.Tyr826Phe) c.2411A>T (p.Tyr804Phe) c.1772A>T (p.Tyr591Phe) c.2390A>T (p.Tyr797Phe) | |
9 | g.137800921C>A | CA375788853 | EHMT1 | c.2649C>A (p.Tyr883Ter) c.2535C>A (p.Tyr845Ter) c.2556C>A (p.Tyr852Ter) c.2689C>A (n.2689C>A) c.543C>A (p.Tyr181Ter) c.327C>A (p.Tyr109Ter) c.1506C>A (p.Tyr502Ter) c.219C>A (p.Tyr73Ter) c.227C>A n.175C>A c.2640C>A (p.Tyr880Ter) c.2631C>A (p.Tyr877Ter) c.2658C>A (p.Tyr886Ter) c.2655C>A (p.Tyr885Ter) c.2637C>A (p.Tyr879Ter) c.2580C>A (p.Tyr860Ter) c.2514C>A (p.Tyr838Ter) c.1080C>A (p.Tyr360Ter) c.432C>A (p.Tyr144Ter) c.2493C>A (p.Tyr831Ter) c.2628C>A (p.Tyr876Ter) c.2634C>A (p.Tyr878Ter) c.2550C>A (p.Tyr850Ter) c.2478C>A (p.Tyr826Ter) c.2412C>A (p.Tyr804Ter) c.1773C>A (p.Tyr591Ter) c.2391C>A (p.Tyr797Ter) | ClinVar dbSNP |
9 | g.137800921C= | CA1884679274 | EHMT1 | c.2649C= (p.Tyr883=) c.2535C= (p.Tyr845=) c.2556C= (p.Tyr852=) c.2689C= (n.2689C=) c.543C= (p.Tyr181=) c.327C= (p.Tyr109=) c.1506C= (p.Tyr502=) c.219C= (p.Tyr73=) c.227C= n.175C= c.2640C= (p.Tyr880=) c.2631C= (p.Tyr877=) c.2658C= (p.Tyr886=) c.2655C= (p.Tyr885=) c.2637C= (p.Tyr879=) c.2580C= (p.Tyr860=) c.2514C= (p.Tyr838=) c.1080C= (p.Tyr360=) c.432C= (p.Tyr144=) c.2493C= (p.Tyr831=) c.2628C= (p.Tyr876=) c.2634C= (p.Tyr878=) c.2550C= (p.Tyr850=) c.2478C= (p.Tyr826=) c.2412C= (p.Tyr804=) c.1773C= (p.Tyr591=) c.2391C= (p.Tyr797=) | |
9 | g.137800921C>G | CA375788854 | EHMT1 | c.2649C>G (p.Tyr883Ter) c.2535C>G (p.Tyr845Ter) c.2556C>G (p.Tyr852Ter) c.2689C>G (n.2689C>G) c.543C>G (p.Tyr181Ter) c.327C>G (p.Tyr109Ter) c.1506C>G (p.Tyr502Ter) c.219C>G (p.Tyr73Ter) c.227C>G n.175C>G c.2640C>G (p.Tyr880Ter) c.2631C>G (p.Tyr877Ter) c.2658C>G (p.Tyr886Ter) c.2655C>G (p.Tyr885Ter) c.2637C>G (p.Tyr879Ter) c.2580C>G (p.Tyr860Ter) c.2514C>G (p.Tyr838Ter) c.1080C>G (p.Tyr360Ter) c.432C>G (p.Tyr144Ter) c.2493C>G (p.Tyr831Ter) c.2628C>G (p.Tyr876Ter) c.2634C>G (p.Tyr878Ter) c.2550C>G (p.Tyr850Ter) c.2478C>G (p.Tyr826Ter) c.2412C>G (p.Tyr804Ter) c.1773C>G (p.Tyr591Ter) c.2391C>G (p.Tyr797Ter) | |
9 | g.137800921C>T | CA467877622 | EHMT1 | c.2649C>T (p.Tyr883=) c.2535C>T (p.Tyr845=) c.2556C>T (p.Tyr852=) c.2689C>T (n.2689C>T) c.543C>T (p.Tyr181=) c.327C>T (p.Tyr109=) c.1506C>T (p.Tyr502=) c.219C>T (p.Tyr73=) c.227C>T n.175C>T c.2640C>T (p.Tyr880=) c.2631C>T (p.Tyr877=) c.2658C>T (p.Tyr886=) c.2655C>T (p.Tyr885=) c.2637C>T (p.Tyr879=) c.2580C>T (p.Tyr860=) c.2514C>T (p.Tyr838=) c.1080C>T (p.Tyr360=) c.432C>T (p.Tyr144=) c.2493C>T (p.Tyr831=) c.2628C>T (p.Tyr876=) c.2634C>T (p.Tyr878=) c.2550C>T (p.Tyr850=) c.2478C>T (p.Tyr826=) c.2412C>T (p.Tyr804=) c.1773C>T (p.Tyr591=) c.2391C>T (p.Tyr797=) | gnomAD v4 |
9 | g.137800922A>C | CA375788855 | EHMT1 | c.2650A>C (p.Lys884Gln) c.2536A>C (p.Lys846Gln) c.2557A>C (p.Lys853Gln) c.2690A>C (n.2690A>C) c.544A>C (p.Lys182Gln) c.328A>C (p.Lys110Gln) c.1507A>C (p.Lys503Gln) c.220A>C (p.Lys74Gln) c.228A>C n.176A>C c.2641A>C (p.Lys881Gln) c.2632A>C (p.Lys878Gln) c.2659A>C (p.Lys887Gln) c.2656A>C (p.Lys886Gln) c.2638A>C (p.Lys880Gln) c.2581A>C (p.Lys861Gln) c.2515A>C (p.Lys839Gln) c.1081A>C (p.Lys361Gln) c.433A>C (p.Lys145Gln) c.2494A>C (p.Lys832Gln) c.2629A>C (p.Lys877Gln) c.2635A>C (p.Lys879Gln) c.2551A>C (p.Lys851Gln) c.2479A>C (p.Lys827Gln) c.2413A>C (p.Lys805Gln) c.1774A>C (p.Lys592Gln) c.2392A>C (p.Lys798Gln) | |
9 | g.137800922A>G | CA375788856 | EHMT1 | c.2650A>G (p.Lys884Glu) c.2536A>G (p.Lys846Glu) c.2557A>G (p.Lys853Glu) c.2690A>G (n.2690A>G) c.544A>G (p.Lys182Glu) c.328A>G (p.Lys110Glu) c.1507A>G (p.Lys503Glu) c.220A>G (p.Lys74Glu) c.228A>G n.176A>G c.2641A>G (p.Lys881Glu) c.2632A>G (p.Lys878Glu) c.2659A>G (p.Lys887Glu) c.2656A>G (p.Lys886Glu) c.2638A>G (p.Lys880Glu) c.2581A>G (p.Lys861Glu) c.2515A>G (p.Lys839Glu) c.1081A>G (p.Lys361Glu) c.433A>G (p.Lys145Glu) c.2494A>G (p.Lys832Glu) c.2629A>G (p.Lys877Glu) c.2635A>G (p.Lys879Glu) c.2551A>G (p.Lys851Glu) c.2479A>G (p.Lys827Glu) c.2413A>G (p.Lys805Glu) c.1774A>G (p.Lys592Glu) c.2392A>G (p.Lys798Glu) | |
9 | g.137800922A>T | CA375788857 | EHMT1 | c.2650A>T (p.Lys884Ter) c.2536A>T (p.Lys846Ter) c.2557A>T (p.Lys853Ter) c.2690A>T (n.2690A>T) c.544A>T (p.Lys182Ter) c.328A>T (p.Lys110Ter) c.1507A>T (p.Lys503Ter) c.220A>T (p.Lys74Ter) c.228A>T n.176A>T c.2641A>T (p.Lys881Ter) c.2632A>T (p.Lys878Ter) c.2659A>T (p.Lys887Ter) c.2656A>T (p.Lys886Ter) c.2638A>T (p.Lys880Ter) c.2581A>T (p.Lys861Ter) c.2515A>T (p.Lys839Ter) c.1081A>T (p.Lys361Ter) c.433A>T (p.Lys145Ter) c.2494A>T (p.Lys832Ter) c.2629A>T (p.Lys877Ter) c.2635A>T (p.Lys879Ter) c.2551A>T (p.Lys851Ter) c.2479A>T (p.Lys827Ter) c.2413A>T (p.Lys805Ter) c.1774A>T (p.Lys592Ter) c.2392A>T (p.Lys798Ter) | |
9 | g.137800923A>C | CA375788859 | EHMT1 | c.2651A>C (p.Lys884Thr) c.2537A>C (p.Lys846Thr) c.2558A>C (p.Lys853Thr) c.2691A>C (n.2691A>C) c.545A>C (p.Lys182Thr) c.329A>C (p.Lys110Thr) c.1508A>C (p.Lys503Thr) c.221A>C (p.Lys74Thr) c.229A>C n.177A>C c.2642A>C (p.Lys881Thr) c.2633A>C (p.Lys878Thr) c.2660A>C (p.Lys887Thr) c.2657A>C (p.Lys886Thr) c.2639A>C (p.Lys880Thr) c.2582A>C (p.Lys861Thr) c.2516A>C (p.Lys839Thr) c.1082A>C (p.Lys361Thr) c.434A>C (p.Lys145Thr) c.2495A>C (p.Lys832Thr) c.2630A>C (p.Lys877Thr) c.2636A>C (p.Lys879Thr) c.2552A>C (p.Lys851Thr) c.2480A>C (p.Lys827Thr) c.2414A>C (p.Lys805Thr) c.1775A>C (p.Lys592Thr) c.2393A>C (p.Lys798Thr) | |
9 | g.137800923A>G | CA375788861 | EHMT1 | c.2651A>G (p.Lys884Arg) c.2537A>G (p.Lys846Arg) c.2558A>G (p.Lys853Arg) c.2691A>G (n.2691A>G) c.545A>G (p.Lys182Arg) c.329A>G (p.Lys110Arg) c.1508A>G (p.Lys503Arg) c.221A>G (p.Lys74Arg) c.229A>G n.177A>G c.2642A>G (p.Lys881Arg) c.2633A>G (p.Lys878Arg) c.2660A>G (p.Lys887Arg) c.2657A>G (p.Lys886Arg) c.2639A>G (p.Lys880Arg) c.2582A>G (p.Lys861Arg) c.2516A>G (p.Lys839Arg) c.1082A>G (p.Lys361Arg) c.434A>G (p.Lys145Arg) c.2495A>G (p.Lys832Arg) c.2630A>G (p.Lys877Arg) c.2636A>G (p.Lys879Arg) c.2552A>G (p.Lys851Arg) c.2480A>G (p.Lys827Arg) c.2414A>G (p.Lys805Arg) c.1775A>G (p.Lys592Arg) c.2393A>G (p.Lys798Arg) | ClinVar dbSNP |
9 | g.137800923A>T | CA375788863 | EHMT1 | c.2651A>T (p.Lys884Met) c.2537A>T (p.Lys846Met) c.2558A>T (p.Lys853Met) c.2691A>T (n.2691A>T) c.545A>T (p.Lys182Met) c.329A>T (p.Lys110Met) c.1508A>T (p.Lys503Met) c.221A>T (p.Lys74Met) c.229A>T n.177A>T c.2642A>T (p.Lys881Met) c.2633A>T (p.Lys878Met) c.2660A>T (p.Lys887Met) c.2657A>T (p.Lys886Met) c.2639A>T (p.Lys880Met) c.2582A>T (p.Lys861Met) c.2516A>T (p.Lys839Met) c.1082A>T (p.Lys361Met) c.434A>T (p.Lys145Met) c.2495A>T (p.Lys832Met) c.2630A>T (p.Lys877Met) c.2636A>T (p.Lys879Met) c.2552A>T (p.Lys851Met) c.2480A>T (p.Lys827Met) c.2414A>T (p.Lys805Met) c.1775A>T (p.Lys592Met) c.2393A>T (p.Lys798Met) | |
9 | g.137800924G>A | CA467877623 | EHMT1 | c.2652G>A (p.Lys884=) c.2538G>A (p.Lys846=) c.2559G>A (p.Lys853=) c.2692G>A (n.2692G>A) c.546G>A (p.Lys182=) c.330G>A (p.Lys110=) c.1509G>A (p.Lys503=) c.222G>A (p.Lys74=) c.230G>A n.178G>A c.2643G>A (p.Lys881=) c.2634G>A (p.Lys878=) c.2661G>A (p.Lys887=) c.2658G>A (p.Lys886=) c.2640G>A (p.Lys880=) c.2583G>A (p.Lys861=) c.2517G>A (p.Lys839=) c.1083G>A (p.Lys361=) c.435G>A (p.Lys145=) c.2496G>A (p.Lys832=) c.2631G>A (p.Lys877=) c.2637G>A (p.Lys879=) c.2553G>A (p.Lys851=) c.2481G>A (p.Lys827=) c.2415G>A (p.Lys805=) c.1776G>A (p.Lys592=) c.2394G>A (p.Lys798=) | ClinVar dbSNP gnomAD v2 |
9 | g.137800924G>C | CA375788865 | EHMT1 | c.2652G>C (p.Lys884Asn) c.2538G>C (p.Lys846Asn) c.2559G>C (p.Lys853Asn) c.2692G>C (n.2692G>C) c.546G>C (p.Lys182Asn) c.330G>C (p.Lys110Asn) c.1509G>C (p.Lys503Asn) c.222G>C (p.Lys74Asn) c.230G>C n.178G>C c.2643G>C (p.Lys881Asn) c.2634G>C (p.Lys878Asn) c.2661G>C (p.Lys887Asn) c.2658G>C (p.Lys886Asn) c.2640G>C (p.Lys880Asn) c.2583G>C (p.Lys861Asn) c.2517G>C (p.Lys839Asn) c.1083G>C (p.Lys361Asn) c.435G>C (p.Lys145Asn) c.2496G>C (p.Lys832Asn) c.2631G>C (p.Lys877Asn) c.2637G>C (p.Lys879Asn) c.2553G>C (p.Lys851Asn) c.2481G>C (p.Lys827Asn) c.2415G>C (p.Lys805Asn) c.1776G>C (p.Lys592Asn) c.2394G>C (p.Lys798Asn) | |
9 | g.137800924G= | CA1884679275 | EHMT1 | c.2652G= (p.Lys884=) c.2538G= (p.Lys846=) c.2559G= (p.Lys853=) c.2692G= (n.2692G=) c.546G= (p.Lys182=) c.330G= (p.Lys110=) c.1509G= (p.Lys503=) c.222G= (p.Lys74=) c.230G= n.178G= c.2643G= (p.Lys881=) c.2634G= (p.Lys878=) c.2661G= (p.Lys887=) c.2658G= (p.Lys886=) c.2640G= (p.Lys880=) c.2583G= (p.Lys861=) c.2517G= (p.Lys839=) c.1083G= (p.Lys361=) c.435G= (p.Lys145=) c.2496G= (p.Lys832=) c.2631G= (p.Lys877=) c.2637G= (p.Lys879=) c.2553G= (p.Lys851=) c.2481G= (p.Lys827=) c.2415G= (p.Lys805=) c.1776G= (p.Lys592=) c.2394G= (p.Lys798=) | |
9 | g.137800924G>T | CA375788867 | EHMT1 | c.2652G>T (p.Lys884Asn) c.2538G>T (p.Lys846Asn) c.2559G>T (p.Lys853Asn) c.2692G>T (n.2692G>T) c.546G>T (p.Lys182Asn) c.330G>T (p.Lys110Asn) c.1509G>T (p.Lys503Asn) c.222G>T (p.Lys74Asn) c.230G>T n.178G>T c.2643G>T (p.Lys881Asn) c.2634G>T (p.Lys878Asn) c.2661G>T (p.Lys887Asn) c.2658G>T (p.Lys886Asn) c.2640G>T (p.Lys880Asn) c.2583G>T (p.Lys861Asn) c.2517G>T (p.Lys839Asn) c.1083G>T (p.Lys361Asn) c.435G>T (p.Lys145Asn) c.2496G>T (p.Lys832Asn) c.2631G>T (p.Lys877Asn) c.2637G>T (p.Lys879Asn) c.2553G>T (p.Lys851Asn) c.2481G>T (p.Lys827Asn) c.2415G>T (p.Lys805Asn) c.1776G>T (p.Lys592Asn) c.2394G>T (p.Lys798Asn) | |
9 | g.137800925C>A | CA375788868 | EHMT1 | c.2653C>A (p.His885Asn) c.2539C>A (p.His847Asn) c.2560C>A (p.His854Asn) c.2693C>A (n.2693C>A) c.547C>A (p.His183Asn) c.331C>A (p.His111Asn) c.1510C>A (p.His504Asn) c.223C>A (p.His75Asn) c.231C>A n.179C>A c.2644C>A (p.His882Asn) c.2635C>A (p.His879Asn) c.2662C>A (p.His888Asn) c.2659C>A (p.His887Asn) c.2641C>A (p.His881Asn) c.2584C>A (p.His862Asn) c.2518C>A (p.His840Asn) c.1084C>A (p.His362Asn) c.436C>A (p.His146Asn) c.2497C>A (p.His833Asn) c.2632C>A (p.His878Asn) c.2638C>A (p.His880Asn) c.2554C>A (p.His852Asn) c.2482C>A (p.His828Asn) c.2416C>A (p.His806Asn) c.1777C>A (p.His593Asn) c.2395C>A (p.His799Asn) | |
9 | g.137800925C>G | CA375788869 | EHMT1 | c.2653C>G (p.His885Asp) c.2539C>G (p.His847Asp) c.2560C>G (p.His854Asp) c.2693C>G (n.2693C>G) c.547C>G (p.His183Asp) c.331C>G (p.His111Asp) c.1510C>G (p.His504Asp) c.223C>G (p.His75Asp) c.231C>G n.179C>G c.2644C>G (p.His882Asp) c.2635C>G (p.His879Asp) c.2662C>G (p.His888Asp) c.2659C>G (p.His887Asp) c.2641C>G (p.His881Asp) c.2584C>G (p.His862Asp) c.2518C>G (p.His840Asp) c.1084C>G (p.His362Asp) c.436C>G (p.His146Asp) c.2497C>G (p.His833Asp) c.2632C>G (p.His878Asp) c.2638C>G (p.His880Asp) c.2554C>G (p.His852Asp) c.2482C>G (p.His828Asp) c.2416C>G (p.His806Asp) c.1777C>G (p.His593Asp) c.2395C>G (p.His799Asp) | |
9 | g.137800925C>T | CA375788870 | EHMT1 | c.2653C>T (p.His885Tyr) c.2539C>T (p.His847Tyr) c.2560C>T (p.His854Tyr) c.2693C>T (n.2693C>T) c.547C>T (p.His183Tyr) c.331C>T (p.His111Tyr) c.1510C>T (p.His504Tyr) c.223C>T (p.His75Tyr) c.231C>T n.179C>T c.2644C>T (p.His882Tyr) c.2635C>T (p.His879Tyr) c.2662C>T (p.His888Tyr) c.2659C>T (p.His887Tyr) c.2641C>T (p.His881Tyr) c.2584C>T (p.His862Tyr) c.2518C>T (p.His840Tyr) c.1084C>T (p.His362Tyr) c.436C>T (p.His146Tyr) c.2497C>T (p.His833Tyr) c.2632C>T (p.His878Tyr) c.2638C>T (p.His880Tyr) c.2554C>T (p.His852Tyr) c.2482C>T (p.His828Tyr) c.2416C>T (p.His806Tyr) c.1777C>T (p.His593Tyr) c.2395C>T (p.His799Tyr) | |
9 | g.137800926A>C | CA375788872 | EHMT1 | c.2654A>C (p.His885Pro) c.2540A>C (p.His847Pro) c.2561A>C (p.His854Pro) c.2694A>C (n.2694A>C) c.548A>C (p.His183Pro) c.332A>C (p.His111Pro) c.1511A>C (p.His504Pro) c.224A>C (p.His75Pro) c.232A>C n.180A>C c.2645A>C (p.His882Pro) c.2636A>C (p.His879Pro) c.2663A>C (p.His888Pro) c.2660A>C (p.His887Pro) c.2642A>C (p.His881Pro) c.2585A>C (p.His862Pro) c.2519A>C (p.His840Pro) c.1085A>C (p.His362Pro) c.437A>C (p.His146Pro) c.2498A>C (p.His833Pro) c.2633A>C (p.His878Pro) c.2639A>C (p.His880Pro) c.2555A>C (p.His852Pro) c.2483A>C (p.His828Pro) c.2417A>C (p.His806Pro) c.1778A>C (p.His593Pro) c.2396A>C (p.His799Pro) | |
9 | g.137800926A>G | CA375788874 | EHMT1 | c.2654A>G (p.His885Arg) c.2540A>G (p.His847Arg) c.2561A>G (p.His854Arg) c.2694A>G (n.2694A>G) c.548A>G (p.His183Arg) c.332A>G (p.His111Arg) c.1511A>G (p.His504Arg) c.224A>G (p.His75Arg) c.232A>G n.180A>G c.2645A>G (p.His882Arg) c.2636A>G (p.His879Arg) c.2663A>G (p.His888Arg) c.2660A>G (p.His887Arg) c.2642A>G (p.His881Arg) c.2585A>G (p.His862Arg) c.2519A>G (p.His840Arg) c.1085A>G (p.His362Arg) c.437A>G (p.His146Arg) c.2498A>G (p.His833Arg) c.2633A>G (p.His878Arg) c.2639A>G (p.His880Arg) c.2555A>G (p.His852Arg) c.2483A>G (p.His828Arg) c.2417A>G (p.His806Arg) c.1778A>G (p.His593Arg) c.2396A>G (p.His799Arg) | |
9 | g.137800926A>T | CA375788876 | EHMT1 | c.2654A>T (p.His885Leu) c.2540A>T (p.His847Leu) c.2561A>T (p.His854Leu) c.2694A>T (n.2694A>T) c.548A>T (p.His183Leu) c.332A>T (p.His111Leu) c.1511A>T (p.His504Leu) c.224A>T (p.His75Leu) c.232A>T n.180A>T c.2645A>T (p.His882Leu) c.2636A>T (p.His879Leu) c.2663A>T (p.His888Leu) c.2660A>T (p.His887Leu) c.2642A>T (p.His881Leu) c.2585A>T (p.His862Leu) c.2519A>T (p.His840Leu) c.1085A>T (p.His362Leu) c.437A>T (p.His146Leu) c.2498A>T (p.His833Leu) c.2633A>T (p.His878Leu) c.2639A>T (p.His880Leu) c.2555A>T (p.His852Leu) c.2483A>T (p.His828Leu) c.2417A>T (p.His806Leu) c.1778A>T (p.His593Leu) c.2396A>T (p.His799Leu) | |
9 | g.137800927C>A | CA375788877 | EHMT1 | c.2655C>A (p.His885Gln) c.2541C>A (p.His847Gln) c.2562C>A (p.His854Gln) c.2695C>A (n.2695C>A) c.549C>A (p.His183Gln) c.333C>A (p.His111Gln) c.1512C>A (p.His504Gln) c.225C>A (p.His75Gln) c.233C>A n.181C>A c.2646C>A (p.His882Gln) c.2637C>A (p.His879Gln) c.2664C>A (p.His888Gln) c.2661C>A (p.His887Gln) c.2643C>A (p.His881Gln) c.2586C>A (p.His862Gln) c.2520C>A (p.His840Gln) c.1086C>A (p.His362Gln) c.438C>A (p.His146Gln) c.2499C>A (p.His833Gln) c.2634C>A (p.His878Gln) c.2640C>A (p.His880Gln) c.2556C>A (p.His852Gln) c.2484C>A (p.His828Gln) c.2418C>A (p.His806Gln) c.1779C>A (p.His593Gln) c.2397C>A (p.His799Gln) | |
9 | g.137800927C= | CA1884679276 | EHMT1 | c.2655C= (p.His885=) c.2541C= (p.His847=) c.2562C= (p.His854=) c.2695C= (n.2695C=) c.549C= (p.His183=) c.333C= (p.His111=) c.1512C= (p.His504=) c.225C= (p.His75=) c.233C= n.181C= c.2646C= (p.His882=) c.2637C= (p.His879=) c.2664C= (p.His888=) c.2661C= (p.His887=) c.2643C= (p.His881=) c.2586C= (p.His862=) c.2520C= (p.His840=) c.1086C= (p.His362=) c.438C= (p.His146=) c.2499C= (p.His833=) c.2634C= (p.His878=) c.2640C= (p.His880=) c.2556C= (p.His852=) c.2484C= (p.His828=) c.2418C= (p.His806=) c.1779C= (p.His593=) c.2397C= (p.His799=) | |
9 | g.137800927C>G | CA375788879 | EHMT1 | c.2655C>G (p.His885Gln) c.2541C>G (p.His847Gln) c.2562C>G (p.His854Gln) c.2695C>G (n.2695C>G) c.549C>G (p.His183Gln) c.333C>G (p.His111Gln) c.1512C>G (p.His504Gln) c.225C>G (p.His75Gln) c.233C>G n.181C>G c.2646C>G (p.His882Gln) c.2637C>G (p.His879Gln) c.2664C>G (p.His888Gln) c.2661C>G (p.His887Gln) c.2643C>G (p.His881Gln) c.2586C>G (p.His862Gln) c.2520C>G (p.His840Gln) c.1086C>G (p.His362Gln) c.438C>G (p.His146Gln) c.2499C>G (p.His833Gln) c.2634C>G (p.His878Gln) c.2640C>G (p.His880Gln) c.2556C>G (p.His852Gln) c.2484C>G (p.His828Gln) c.2418C>G (p.His806Gln) c.1779C>G (p.His593Gln) c.2397C>G (p.His799Gln) | |
9 | g.137800927C>T | CA201832995 | EHMT1 | c.2655C>T (p.His885=) c.2541C>T (p.His847=) c.2562C>T (p.His854=) c.2695C>T (n.2695C>T) c.549C>T (p.His183=) c.333C>T (p.His111=) c.1512C>T (p.His504=) c.225C>T (p.His75=) c.233C>T n.181C>T c.2646C>T (p.His882=) c.2637C>T (p.His879=) c.2664C>T (p.His888=) c.2661C>T (p.His887=) c.2643C>T (p.His881=) c.2586C>T (p.His862=) c.2520C>T (p.His840=) c.1086C>T (p.His362=) c.438C>T (p.His146=) c.2499C>T (p.His833=) c.2634C>T (p.His878=) c.2640C>T (p.His880=) c.2556C>T (p.His852=) c.2484C>T (p.His828=) c.2418C>T (p.His806=) c.1779C>T (p.His593=) c.2397C>T (p.His799=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.137800928G>A | CA5375020 | EHMT1 | c.2656G>A (p.Val886Met) c.2542G>A (p.Val848Met) c.2563G>A (p.Val855Met) c.2696G>A (n.2696G>A) c.550G>A (p.Val184Met) c.334G>A (p.Val112Met) c.1513G>A (p.Val505Met) c.226G>A (p.Val76Met) c.234G>A n.182G>A c.2647G>A (p.Val883Met) c.2638G>A (p.Val880Met) c.2665G>A (p.Val889Met) c.2662G>A (p.Val888Met) c.2644G>A (p.Val882Met) c.2587G>A (p.Val863Met) c.2521G>A (p.Val841Met) c.1087G>A (p.Val363Met) c.439G>A (p.Val147Met) c.2500G>A (p.Val834Met) c.2635G>A (p.Val879Met) c.2641G>A (p.Val881Met) c.2557G>A (p.Val853Met) c.2485G>A (p.Val829Met) c.2419G>A (p.Val807Met) c.1780G>A (p.Val594Met) c.2398G>A (p.Val800Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800928G>C | CA375788881 | EHMT1 | c.2656G>C (p.Val886Leu) c.2542G>C (p.Val848Leu) c.2563G>C (p.Val855Leu) c.2696G>C (n.2696G>C) c.550G>C (p.Val184Leu) c.334G>C (p.Val112Leu) c.1513G>C (p.Val505Leu) c.226G>C (p.Val76Leu) c.234G>C n.182G>C c.2647G>C (p.Val883Leu) c.2638G>C (p.Val880Leu) c.2665G>C (p.Val889Leu) c.2662G>C (p.Val888Leu) c.2644G>C (p.Val882Leu) c.2587G>C (p.Val863Leu) c.2521G>C (p.Val841Leu) c.1087G>C (p.Val363Leu) c.439G>C (p.Val147Leu) c.2500G>C (p.Val834Leu) c.2635G>C (p.Val879Leu) c.2641G>C (p.Val881Leu) c.2557G>C (p.Val853Leu) c.2485G>C (p.Val829Leu) c.2419G>C (p.Val807Leu) c.1780G>C (p.Val594Leu) c.2398G>C (p.Val800Leu) | |
9 | g.137800928G= | CA1884679277 | EHMT1 | c.2656G= (p.Val886=) c.2542G= (p.Val848=) c.2563G= (p.Val855=) c.2696G= (n.2696G=) c.550G= (p.Val184=) c.334G= (p.Val112=) c.1513G= (p.Val505=) c.226G= (p.Val76=) c.234G= n.182G= c.2647G= (p.Val883=) c.2638G= (p.Val880=) c.2665G= (p.Val889=) c.2662G= (p.Val888=) c.2644G= (p.Val882=) c.2587G= (p.Val863=) c.2521G= (p.Val841=) c.1087G= (p.Val363=) c.439G= (p.Val147=) c.2500G= (p.Val834=) c.2635G= (p.Val879=) c.2641G= (p.Val881=) c.2557G= (p.Val853=) c.2485G= (p.Val829=) c.2419G= (p.Val807=) c.1780G= (p.Val594=) c.2398G= (p.Val800=) | |
9 | g.137800928G>T | CA375788882 | EHMT1 | c.2656G>T (p.Val886Leu) c.2542G>T (p.Val848Leu) c.2563G>T (p.Val855Leu) c.2696G>T (n.2696G>T) c.550G>T (p.Val184Leu) c.334G>T (p.Val112Leu) c.1513G>T (p.Val505Leu) c.226G>T (p.Val76Leu) c.234G>T n.182G>T c.2647G>T (p.Val883Leu) c.2638G>T (p.Val880Leu) c.2665G>T (p.Val889Leu) c.2662G>T (p.Val888Leu) c.2644G>T (p.Val882Leu) c.2587G>T (p.Val863Leu) c.2521G>T (p.Val841Leu) c.1087G>T (p.Val363Leu) c.439G>T (p.Val147Leu) c.2500G>T (p.Val834Leu) c.2635G>T (p.Val879Leu) c.2641G>T (p.Val881Leu) c.2557G>T (p.Val853Leu) c.2485G>T (p.Val829Leu) c.2419G>T (p.Val807Leu) c.1780G>T (p.Val594Leu) c.2398G>T (p.Val800Leu) | ClinVar dbSNP gnomAD v4 |
9 | g.137800929T>A | CA375788889 | EHMT1 | c.2657T>A (p.Val886Glu) c.2543T>A (p.Val848Glu) c.2564T>A (p.Val855Glu) c.2697T>A (n.2697T>A) c.551T>A (p.Val184Glu) c.335T>A (p.Val112Glu) c.1514T>A (p.Val505Glu) c.227T>A (p.Val76Glu) c.235T>A n.183T>A c.2648T>A (p.Val883Glu) c.2639T>A (p.Val880Glu) c.2666T>A (p.Val889Glu) c.2663T>A (p.Val888Glu) c.2645T>A (p.Val882Glu) c.2588T>A (p.Val863Glu) c.2522T>A (p.Val841Glu) c.1088T>A (p.Val363Glu) c.440T>A (p.Val147Glu) c.2501T>A (p.Val834Glu) c.2636T>A (p.Val879Glu) c.2642T>A (p.Val881Glu) c.2558T>A (p.Val853Glu) c.2486T>A (p.Val829Glu) c.2420T>A (p.Val807Glu) c.1781T>A (p.Val594Glu) c.2399T>A (p.Val800Glu) | |
9 | g.137800929T>C | CA375788887 | EHMT1 | c.2657T>C (p.Val886Ala) c.2543T>C (p.Val848Ala) c.2564T>C (p.Val855Ala) c.2697T>C (n.2697T>C) c.551T>C (p.Val184Ala) c.335T>C (p.Val112Ala) c.1514T>C (p.Val505Ala) c.227T>C (p.Val76Ala) c.235T>C n.183T>C c.2648T>C (p.Val883Ala) c.2639T>C (p.Val880Ala) c.2666T>C (p.Val889Ala) c.2663T>C (p.Val888Ala) c.2645T>C (p.Val882Ala) c.2588T>C (p.Val863Ala) c.2522T>C (p.Val841Ala) c.1088T>C (p.Val363Ala) c.440T>C (p.Val147Ala) c.2501T>C (p.Val834Ala) c.2636T>C (p.Val879Ala) c.2642T>C (p.Val881Ala) c.2558T>C (p.Val853Ala) c.2486T>C (p.Val829Ala) c.2420T>C (p.Val807Ala) c.1781T>C (p.Val594Ala) c.2399T>C (p.Val800Ala) | gnomAD v4 |
9 | g.137800929T>G | CA375788884 | EHMT1 | c.2657T>G (p.Val886Gly) c.2543T>G (p.Val848Gly) c.2564T>G (p.Val855Gly) c.2697T>G (n.2697T>G) c.551T>G (p.Val184Gly) c.335T>G (p.Val112Gly) c.1514T>G (p.Val505Gly) c.227T>G (p.Val76Gly) c.235T>G n.183T>G c.2648T>G (p.Val883Gly) c.2639T>G (p.Val880Gly) c.2666T>G (p.Val889Gly) c.2663T>G (p.Val888Gly) c.2645T>G (p.Val882Gly) c.2588T>G (p.Val863Gly) c.2522T>G (p.Val841Gly) c.1088T>G (p.Val363Gly) c.440T>G (p.Val147Gly) c.2501T>G (p.Val834Gly) c.2636T>G (p.Val879Gly) c.2642T>G (p.Val881Gly) c.2558T>G (p.Val853Gly) c.2486T>G (p.Val829Gly) c.2420T>G (p.Val807Gly) c.1781T>G (p.Val594Gly) c.2399T>G (p.Val800Gly) | |
9 | g.137800930G>A | CA467877627 | EHMT1 | c.2658G>A (p.Val886=) c.2544G>A (p.Val848=) c.2565G>A (p.Val855=) c.2698G>A (n.2698G>A) c.552G>A (p.Val184=) c.336G>A (p.Val112=) c.1515G>A (p.Val505=) c.228G>A (p.Val76=) c.236G>A n.184G>A c.2649G>A (p.Val883=) c.2640G>A (p.Val880=) c.2667G>A (p.Val889=) c.2664G>A (p.Val888=) c.2646G>A (p.Val882=) c.2589G>A (p.Val863=) c.2523G>A (p.Val841=) c.1089G>A (p.Val363=) c.441G>A (p.Val147=) c.2502G>A (p.Val834=) c.2637G>A (p.Val879=) c.2643G>A (p.Val881=) c.2559G>A (p.Val853=) c.2487G>A (p.Val829=) c.2421G>A (p.Val807=) c.1782G>A (p.Val594=) c.2400G>A (p.Val800=) | |
9 | g.137800930G>C | CA467877628 | EHMT1 | c.2658G>C (p.Val886=) c.2544G>C (p.Val848=) c.2565G>C (p.Val855=) c.2698G>C (n.2698G>C) c.552G>C (p.Val184=) c.336G>C (p.Val112=) c.1515G>C (p.Val505=) c.228G>C (p.Val76=) c.236G>C n.184G>C c.2649G>C (p.Val883=) c.2640G>C (p.Val880=) c.2667G>C (p.Val889=) c.2664G>C (p.Val888=) c.2646G>C (p.Val882=) c.2589G>C (p.Val863=) c.2523G>C (p.Val841=) c.1089G>C (p.Val363=) c.441G>C (p.Val147=) c.2502G>C (p.Val834=) c.2637G>C (p.Val879=) c.2643G>C (p.Val881=) c.2559G>C (p.Val853=) c.2487G>C (p.Val829=) c.2421G>C (p.Val807=) c.1782G>C (p.Val594=) c.2400G>C (p.Val800=) | |
9 | g.137800930G>T | CA467877630 | EHMT1 | c.2658G>T (p.Val886=) c.2544G>T (p.Val848=) c.2565G>T (p.Val855=) c.2698G>T (n.2698G>T) c.552G>T (p.Val184=) c.336G>T (p.Val112=) c.1515G>T (p.Val505=) c.228G>T (p.Val76=) c.236G>T n.184G>T c.2649G>T (p.Val883=) c.2640G>T (p.Val880=) c.2667G>T (p.Val889=) c.2664G>T (p.Val888=) c.2646G>T (p.Val882=) c.2589G>T (p.Val863=) c.2523G>T (p.Val841=) c.1089G>T (p.Val363=) c.441G>T (p.Val147=) c.2502G>T (p.Val834=) c.2637G>T (p.Val879=) c.2643G>T (p.Val881=) c.2559G>T (p.Val853=) c.2487G>T (p.Val829=) c.2421G>T (p.Val807=) c.1782G>T (p.Val594=) c.2400G>T (p.Val800=) | |
9 | g.137800931G>A | CA375788891 | EHMT1 | c.2659G>A (p.Asp887Asn) c.2545G>A (p.Asp849Asn) c.2566G>A (p.Asp856Asn) c.2699G>A (n.2699G>A) c.553G>A (p.Asp185Asn) c.337G>A (p.Asp113Asn) c.1516G>A (p.Asp506Asn) c.229G>A (p.Asp77Asn) c.237G>A n.185G>A c.2650G>A (p.Asp884Asn) c.2641G>A (p.Asp881Asn) c.2668G>A (p.Asp890Asn) c.2665G>A (p.Asp889Asn) c.2647G>A (p.Asp883Asn) c.2590G>A (p.Asp864Asn) c.2524G>A (p.Asp842Asn) c.1090G>A (p.Asp364Asn) c.442G>A (p.Asp148Asn) c.2503G>A (p.Asp835Asn) c.2638G>A (p.Asp880Asn) c.2644G>A (p.Asp882Asn) c.2560G>A (p.Asp854Asn) c.2488G>A (p.Asp830Asn) c.2422G>A (p.Asp808Asn) c.1783G>A (p.Asp595Asn) c.2401G>A (p.Asp801Asn) | |
9 | g.137800931G>C | CA375788892 | EHMT1 | c.2659G>C (p.Asp887His) c.2545G>C (p.Asp849His) c.2566G>C (p.Asp856His) c.2699G>C (n.2699G>C) c.553G>C (p.Asp185His) c.337G>C (p.Asp113His) c.1516G>C (p.Asp506His) c.229G>C (p.Asp77His) c.237G>C n.185G>C c.2650G>C (p.Asp884His) c.2641G>C (p.Asp881His) c.2668G>C (p.Asp890His) c.2665G>C (p.Asp889His) c.2647G>C (p.Asp883His) c.2590G>C (p.Asp864His) c.2524G>C (p.Asp842His) c.1090G>C (p.Asp364His) c.442G>C (p.Asp148His) c.2503G>C (p.Asp835His) c.2638G>C (p.Asp880His) c.2644G>C (p.Asp882His) c.2560G>C (p.Asp854His) c.2488G>C (p.Asp830His) c.2422G>C (p.Asp808His) c.1783G>C (p.Asp595His) c.2401G>C (p.Asp801His) | |
9 | g.137800931G>T | CA375788895 | EHMT1 | c.2659G>T (p.Asp887Tyr) c.2545G>T (p.Asp849Tyr) c.2566G>T (p.Asp856Tyr) c.2699G>T (n.2699G>T) c.553G>T (p.Asp185Tyr) c.337G>T (p.Asp113Tyr) c.1516G>T (p.Asp506Tyr) c.229G>T (p.Asp77Tyr) c.237G>T n.185G>T c.2650G>T (p.Asp884Tyr) c.2641G>T (p.Asp881Tyr) c.2668G>T (p.Asp890Tyr) c.2665G>T (p.Asp889Tyr) c.2647G>T (p.Asp883Tyr) c.2590G>T (p.Asp864Tyr) c.2524G>T (p.Asp842Tyr) c.1090G>T (p.Asp364Tyr) c.442G>T (p.Asp148Tyr) c.2503G>T (p.Asp835Tyr) c.2638G>T (p.Asp880Tyr) c.2644G>T (p.Asp882Tyr) c.2560G>T (p.Asp854Tyr) c.2488G>T (p.Asp830Tyr) c.2422G>T (p.Asp808Tyr) c.1783G>T (p.Asp595Tyr) c.2401G>T (p.Asp801Tyr) | |
9 | g.137800932A= | CA1884679278 | EHMT1 | c.2660A= (p.Asp887=) c.2546A= (p.Asp849=) c.2567A= (p.Asp856=) c.2700A= (n.2700A=) c.554A= (p.Asp185=) c.338A= (p.Asp113=) c.1517A= (p.Asp506=) c.230A= (p.Asp77=) c.238A= n.186A= c.2651A= (p.Asp884=) c.2642A= (p.Asp881=) c.2669A= (p.Asp890=) c.2666A= (p.Asp889=) c.2648A= (p.Asp883=) c.2591A= (p.Asp864=) c.2525A= (p.Asp842=) c.1091A= (p.Asp364=) c.443A= (p.Asp148=) c.2504A= (p.Asp835=) c.2639A= (p.Asp880=) c.2645A= (p.Asp882=) c.2561A= (p.Asp854=) c.2489A= (p.Asp830=) c.2423A= (p.Asp808=) c.1784A= (p.Asp595=) c.2402A= (p.Asp801=) | |
9 | g.137800932A>C | CA375788897 | EHMT1 | c.2660A>C (p.Asp887Ala) c.2546A>C (p.Asp849Ala) c.2567A>C (p.Asp856Ala) c.2700A>C (n.2700A>C) c.554A>C (p.Asp185Ala) c.338A>C (p.Asp113Ala) c.1517A>C (p.Asp506Ala) c.230A>C (p.Asp77Ala) c.238A>C n.186A>C c.2651A>C (p.Asp884Ala) c.2642A>C (p.Asp881Ala) c.2669A>C (p.Asp890Ala) c.2666A>C (p.Asp889Ala) c.2648A>C (p.Asp883Ala) c.2591A>C (p.Asp864Ala) c.2525A>C (p.Asp842Ala) c.1091A>C (p.Asp364Ala) c.443A>C (p.Asp148Ala) c.2504A>C (p.Asp835Ala) c.2639A>C (p.Asp880Ala) c.2645A>C (p.Asp882Ala) c.2561A>C (p.Asp854Ala) c.2489A>C (p.Asp830Ala) c.2423A>C (p.Asp808Ala) c.1784A>C (p.Asp595Ala) c.2402A>C (p.Asp801Ala) | dbSNP gnomAD v4 |
9 | g.137800932A>G | CA375788898 | EHMT1 | c.2660A>G (p.Asp887Gly) c.2546A>G (p.Asp849Gly) c.2567A>G (p.Asp856Gly) c.2700A>G (n.2700A>G) c.554A>G (p.Asp185Gly) c.338A>G (p.Asp113Gly) c.1517A>G (p.Asp506Gly) c.230A>G (p.Asp77Gly) c.238A>G n.186A>G c.2651A>G (p.Asp884Gly) c.2642A>G (p.Asp881Gly) c.2669A>G (p.Asp890Gly) c.2666A>G (p.Asp889Gly) c.2648A>G (p.Asp883Gly) c.2591A>G (p.Asp864Gly) c.2525A>G (p.Asp842Gly) c.1091A>G (p.Asp364Gly) c.443A>G (p.Asp148Gly) c.2504A>G (p.Asp835Gly) c.2639A>G (p.Asp880Gly) c.2645A>G (p.Asp882Gly) c.2561A>G (p.Asp854Gly) c.2489A>G (p.Asp830Gly) c.2423A>G (p.Asp808Gly) c.1784A>G (p.Asp595Gly) c.2402A>G (p.Asp801Gly) | |
9 | g.137800932A>T | CA375788900 | EHMT1 | c.2660A>T (p.Asp887Val) c.2546A>T (p.Asp849Val) c.2567A>T (p.Asp856Val) c.2700A>T (n.2700A>T) c.554A>T (p.Asp185Val) c.338A>T (p.Asp113Val) c.1517A>T (p.Asp506Val) c.230A>T (p.Asp77Val) c.238A>T n.186A>T c.2651A>T (p.Asp884Val) c.2642A>T (p.Asp881Val) c.2669A>T (p.Asp890Val) c.2666A>T (p.Asp889Val) c.2648A>T (p.Asp883Val) c.2591A>T (p.Asp864Val) c.2525A>T (p.Asp842Val) c.1091A>T (p.Asp364Val) c.443A>T (p.Asp148Val) c.2504A>T (p.Asp835Val) c.2639A>T (p.Asp880Val) c.2645A>T (p.Asp882Val) c.2561A>T (p.Asp854Val) c.2489A>T (p.Asp830Val) c.2423A>T (p.Asp808Val) c.1784A>T (p.Asp595Val) c.2402A>T (p.Asp801Val) | |
9 | g.137800933C>A | CA375788901 | EHMT1 | c.2661C>A (p.Asp887Glu) c.2547C>A (p.Asp849Glu) c.2568C>A (p.Asp856Glu) c.2701C>A (n.2701C>A) c.555C>A (p.Asp185Glu) c.339C>A (p.Asp113Glu) c.1518C>A (p.Asp506Glu) c.231C>A (p.Asp77Glu) c.239C>A n.187C>A c.2652C>A (p.Asp884Glu) c.2643C>A (p.Asp881Glu) c.2670C>A (p.Asp890Glu) c.2667C>A (p.Asp889Glu) c.2649C>A (p.Asp883Glu) c.2592C>A (p.Asp864Glu) c.2526C>A (p.Asp842Glu) c.1092C>A (p.Asp364Glu) c.444C>A (p.Asp148Glu) c.2505C>A (p.Asp835Glu) c.2640C>A (p.Asp880Glu) c.2646C>A (p.Asp882Glu) c.2562C>A (p.Asp854Glu) c.2490C>A (p.Asp830Glu) c.2424C>A (p.Asp808Glu) c.1785C>A (p.Asp595Glu) c.2403C>A (p.Asp801Glu) | dbSNP gnomAD v4 |
9 | g.137800933C= | CA1884679279 | EHMT1 | c.2661C= (p.Asp887=) c.2547C= (p.Asp849=) c.2568C= (p.Asp856=) c.2701C= (n.2701C=) c.555C= (p.Asp185=) c.339C= (p.Asp113=) c.1518C= (p.Asp506=) c.231C= (p.Asp77=) c.239C= n.187C= c.2652C= (p.Asp884=) c.2643C= (p.Asp881=) c.2670C= (p.Asp890=) c.2667C= (p.Asp889=) c.2649C= (p.Asp883=) c.2592C= (p.Asp864=) c.2526C= (p.Asp842=) c.1092C= (p.Asp364=) c.444C= (p.Asp148=) c.2505C= (p.Asp835=) c.2640C= (p.Asp880=) c.2646C= (p.Asp882=) c.2562C= (p.Asp854=) c.2490C= (p.Asp830=) c.2424C= (p.Asp808=) c.1785C= (p.Asp595=) c.2403C= (p.Asp801=) | |
9 | g.137800933C>G | CA375788903 | EHMT1 | c.2661C>G (p.Asp887Glu) c.2547C>G (p.Asp849Glu) c.2568C>G (p.Asp856Glu) c.2701C>G (n.2701C>G) c.555C>G (p.Asp185Glu) c.339C>G (p.Asp113Glu) c.1518C>G (p.Asp506Glu) c.231C>G (p.Asp77Glu) c.239C>G n.187C>G c.2652C>G (p.Asp884Glu) c.2643C>G (p.Asp881Glu) c.2670C>G (p.Asp890Glu) c.2667C>G (p.Asp889Glu) c.2649C>G (p.Asp883Glu) c.2592C>G (p.Asp864Glu) c.2526C>G (p.Asp842Glu) c.1092C>G (p.Asp364Glu) c.444C>G (p.Asp148Glu) c.2505C>G (p.Asp835Glu) c.2640C>G (p.Asp880Glu) c.2646C>G (p.Asp882Glu) c.2562C>G (p.Asp854Glu) c.2490C>G (p.Asp830Glu) c.2424C>G (p.Asp808Glu) c.1785C>G (p.Asp595Glu) c.2403C>G (p.Asp801Glu) | |
9 | g.137800933C>T | CA5375021 | EHMT1 | c.2661C>T (p.Asp887=) c.2547C>T (p.Asp849=) c.2568C>T (p.Asp856=) c.2701C>T (n.2701C>T) c.555C>T (p.Asp185=) c.339C>T (p.Asp113=) c.1518C>T (p.Asp506=) c.231C>T (p.Asp77=) c.239C>T n.187C>T c.2652C>T (p.Asp884=) c.2643C>T (p.Asp881=) c.2670C>T (p.Asp890=) c.2667C>T (p.Asp889=) c.2649C>T (p.Asp883=) c.2592C>T (p.Asp864=) c.2526C>T (p.Asp842=) c.1092C>T (p.Asp364=) c.444C>T (p.Asp148=) c.2505C>T (p.Asp835=) c.2640C>T (p.Asp880=) c.2646C>T (p.Asp882=) c.2562C>T (p.Asp854=) c.2490C>T (p.Asp830=) c.2424C>T (p.Asp808=) c.1785C>T (p.Asp595=) c.2403C>T (p.Asp801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800934C>A | CA375788906 | EHMT1 | c.2662C>A (p.Leu888Ile) c.2548C>A (p.Leu850Ile) c.2569C>A (p.Leu857Ile) c.2702C>A (n.2702C>A) c.556C>A (p.Leu186Ile) c.340C>A (p.Leu114Ile) c.1519C>A (p.Leu507Ile) c.232C>A (p.Leu78Ile) c.240C>A n.188C>A c.2653C>A (p.Leu885Ile) c.2644C>A (p.Leu882Ile) c.2671C>A (p.Leu891Ile) c.2668C>A (p.Leu890Ile) c.2650C>A (p.Leu884Ile) c.2593C>A (p.Leu865Ile) c.2527C>A (p.Leu843Ile) c.1093C>A (p.Leu365Ile) c.445C>A (p.Leu149Ile) c.2506C>A (p.Leu836Ile) c.2641C>A (p.Leu881Ile) c.2647C>A (p.Leu883Ile) c.2563C>A (p.Leu855Ile) c.2491C>A (p.Leu831Ile) c.2425C>A (p.Leu809Ile) c.1786C>A (p.Leu596Ile) c.2404C>A (p.Leu802Ile) | |
9 | g.137800934C>G | CA375788908 | EHMT1 | c.2662C>G (p.Leu888Val) c.2548C>G (p.Leu850Val) c.2569C>G (p.Leu857Val) c.2702C>G (n.2702C>G) c.556C>G (p.Leu186Val) c.340C>G (p.Leu114Val) c.1519C>G (p.Leu507Val) c.232C>G (p.Leu78Val) c.240C>G n.188C>G c.2653C>G (p.Leu885Val) c.2644C>G (p.Leu882Val) c.2671C>G (p.Leu891Val) c.2668C>G (p.Leu890Val) c.2650C>G (p.Leu884Val) c.2593C>G (p.Leu865Val) c.2527C>G (p.Leu843Val) c.1093C>G (p.Leu365Val) c.445C>G (p.Leu149Val) c.2506C>G (p.Leu836Val) c.2641C>G (p.Leu881Val) c.2647C>G (p.Leu883Val) c.2563C>G (p.Leu855Val) c.2491C>G (p.Leu831Val) c.2425C>G (p.Leu809Val) c.1786C>G (p.Leu596Val) c.2404C>G (p.Leu802Val) | |
9 | g.137800934C>T | CA375788909 | EHMT1 | c.2662C>T (p.Leu888Phe) c.2548C>T (p.Leu850Phe) c.2569C>T (p.Leu857Phe) c.2702C>T (n.2702C>T) c.556C>T (p.Leu186Phe) c.340C>T (p.Leu114Phe) c.1519C>T (p.Leu507Phe) c.232C>T (p.Leu78Phe) c.240C>T n.188C>T c.2653C>T (p.Leu885Phe) c.2644C>T (p.Leu882Phe) c.2671C>T (p.Leu891Phe) c.2668C>T (p.Leu890Phe) c.2650C>T (p.Leu884Phe) c.2593C>T (p.Leu865Phe) c.2527C>T (p.Leu843Phe) c.1093C>T (p.Leu365Phe) c.445C>T (p.Leu149Phe) c.2506C>T (p.Leu836Phe) c.2641C>T (p.Leu881Phe) c.2647C>T (p.Leu883Phe) c.2563C>T (p.Leu855Phe) c.2491C>T (p.Leu831Phe) c.2425C>T (p.Leu809Phe) c.1786C>T (p.Leu596Phe) c.2404C>T (p.Leu802Phe) | |
9 | g.137800935T>A | CA375788911 | EHMT1 | c.2663T>A (p.Leu888His) c.2549T>A (p.Leu850His) c.2570T>A (p.Leu857His) c.2703T>A (n.2703T>A) c.557T>A (p.Leu186His) c.341T>A (p.Leu114His) c.1520T>A (p.Leu507His) c.233T>A (p.Leu78His) c.241T>A n.189T>A c.2654T>A (p.Leu885His) c.2645T>A (p.Leu882His) c.2672T>A (p.Leu891His) c.2669T>A (p.Leu890His) c.2651T>A (p.Leu884His) c.2594T>A (p.Leu865His) c.2528T>A (p.Leu843His) c.1094T>A (p.Leu365His) c.446T>A (p.Leu149His) c.2507T>A (p.Leu836His) c.2642T>A (p.Leu881His) c.2648T>A (p.Leu883His) c.2564T>A (p.Leu855His) c.2492T>A (p.Leu831His) c.2426T>A (p.Leu809His) c.1787T>A (p.Leu596His) c.2405T>A (p.Leu802His) | |
9 | g.137800935T>C | CA375788913 | EHMT1 | c.2663T>C (p.Leu888Pro) c.2549T>C (p.Leu850Pro) c.2570T>C (p.Leu857Pro) c.2703T>C (n.2703T>C) c.557T>C (p.Leu186Pro) c.341T>C (p.Leu114Pro) c.1520T>C (p.Leu507Pro) c.233T>C (p.Leu78Pro) c.241T>C n.189T>C c.2654T>C (p.Leu885Pro) c.2645T>C (p.Leu882Pro) c.2672T>C (p.Leu891Pro) c.2669T>C (p.Leu890Pro) c.2651T>C (p.Leu884Pro) c.2594T>C (p.Leu865Pro) c.2528T>C (p.Leu843Pro) c.1094T>C (p.Leu365Pro) c.446T>C (p.Leu149Pro) c.2507T>C (p.Leu836Pro) c.2642T>C (p.Leu881Pro) c.2648T>C (p.Leu883Pro) c.2564T>C (p.Leu855Pro) c.2492T>C (p.Leu831Pro) c.2426T>C (p.Leu809Pro) c.1787T>C (p.Leu596Pro) c.2405T>C (p.Leu802Pro) | |
9 | g.137800935T>G | CA375788910 | EHMT1 | c.2663T>G (p.Leu888Arg) c.2549T>G (p.Leu850Arg) c.2570T>G (p.Leu857Arg) c.2703T>G (n.2703T>G) c.557T>G (p.Leu186Arg) c.341T>G (p.Leu114Arg) c.1520T>G (p.Leu507Arg) c.233T>G (p.Leu78Arg) c.241T>G n.189T>G c.2654T>G (p.Leu885Arg) c.2645T>G (p.Leu882Arg) c.2672T>G (p.Leu891Arg) c.2669T>G (p.Leu890Arg) c.2651T>G (p.Leu884Arg) c.2594T>G (p.Leu865Arg) c.2528T>G (p.Leu843Arg) c.1094T>G (p.Leu365Arg) c.446T>G (p.Leu149Arg) c.2507T>G (p.Leu836Arg) c.2642T>G (p.Leu881Arg) c.2648T>G (p.Leu883Arg) c.2564T>G (p.Leu855Arg) c.2492T>G (p.Leu831Arg) c.2426T>G (p.Leu809Arg) c.1787T>G (p.Leu596Arg) c.2405T>G (p.Leu802Arg) | |
9 | g.137800936C>A | CA467877634 | EHMT1 | c.2664C>A (p.Leu888=) c.2550C>A (p.Leu850=) c.2571C>A (p.Leu857=) c.2704C>A (n.2704C>A) c.558C>A (p.Leu186=) c.342C>A (p.Leu114=) c.1521C>A (p.Leu507=) c.234C>A (p.Leu78=) c.242C>A n.190C>A c.2655C>A (p.Leu885=) c.2646C>A (p.Leu882=) c.2673C>A (p.Leu891=) c.2670C>A (p.Leu890=) c.2652C>A (p.Leu884=) c.2595C>A (p.Leu865=) c.2529C>A (p.Leu843=) c.1095C>A (p.Leu365=) c.447C>A (p.Leu149=) c.2508C>A (p.Leu836=) c.2643C>A (p.Leu881=) c.2649C>A (p.Leu883=) c.2565C>A (p.Leu855=) c.2493C>A (p.Leu831=) c.2427C>A (p.Leu809=) c.1788C>A (p.Leu596=) c.2406C>A (p.Leu802=) | |
9 | g.137800936C= | CA1884679280 | EHMT1 | c.2664C= (p.Leu888=) c.2550C= (p.Leu850=) c.2571C= (p.Leu857=) c.2704C= (n.2704C=) c.558C= (p.Leu186=) c.342C= (p.Leu114=) c.1521C= (p.Leu507=) c.234C= (p.Leu78=) c.242C= n.190C= c.2655C= (p.Leu885=) c.2646C= (p.Leu882=) c.2673C= (p.Leu891=) c.2670C= (p.Leu890=) c.2652C= (p.Leu884=) c.2595C= (p.Leu865=) c.2529C= (p.Leu843=) c.1095C= (p.Leu365=) c.447C= (p.Leu149=) c.2508C= (p.Leu836=) c.2643C= (p.Leu881=) c.2649C= (p.Leu883=) c.2565C= (p.Leu855=) c.2493C= (p.Leu831=) c.2427C= (p.Leu809=) c.1788C= (p.Leu596=) c.2406C= (p.Leu802=) | |
9 | g.137800936C>G | CA467877635 | EHMT1 | c.2664C>G (p.Leu888=) c.2550C>G (p.Leu850=) c.2571C>G (p.Leu857=) c.2704C>G (n.2704C>G) c.558C>G (p.Leu186=) c.342C>G (p.Leu114=) c.1521C>G (p.Leu507=) c.234C>G (p.Leu78=) c.242C>G n.190C>G c.2655C>G (p.Leu885=) c.2646C>G (p.Leu882=) c.2673C>G (p.Leu891=) c.2670C>G (p.Leu890=) c.2652C>G (p.Leu884=) c.2595C>G (p.Leu865=) c.2529C>G (p.Leu843=) c.1095C>G (p.Leu365=) c.447C>G (p.Leu149=) c.2508C>G (p.Leu836=) c.2643C>G (p.Leu881=) c.2649C>G (p.Leu883=) c.2565C>G (p.Leu855=) c.2493C>G (p.Leu831=) c.2427C>G (p.Leu809=) c.1788C>G (p.Leu596=) c.2406C>G (p.Leu802=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800936C>T | CA5375022 | EHMT1 | c.2664C>T (p.Leu888=) c.2550C>T (p.Leu850=) c.2571C>T (p.Leu857=) c.2704C>T (n.2704C>T) c.558C>T (p.Leu186=) c.342C>T (p.Leu114=) c.1521C>T (p.Leu507=) c.234C>T (p.Leu78=) c.242C>T n.190C>T c.2655C>T (p.Leu885=) c.2646C>T (p.Leu882=) c.2673C>T (p.Leu891=) c.2670C>T (p.Leu890=) c.2652C>T (p.Leu884=) c.2595C>T (p.Leu865=) c.2529C>T (p.Leu843=) c.1095C>T (p.Leu365=) c.447C>T (p.Leu149=) c.2508C>T (p.Leu836=) c.2643C>T (p.Leu881=) c.2649C>T (p.Leu883=) c.2565C>T (p.Leu855=) c.2493C>T (p.Leu831=) c.2427C>T (p.Leu809=) c.1788C>T (p.Leu596=) c.2406C>T (p.Leu802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137800937G>A | CA5375023 | EHMT1 | c.2665G>A (p.Val889Met) c.2551G>A (p.Val851Met) c.2572G>A (p.Val858Met) c.2705G>A (n.2705G>A) c.559G>A (p.Val187Met) c.343G>A (p.Val115Met) c.1522G>A (p.Val508Met) c.235G>A (p.Val79Met) c.243G>A n.191G>A c.2656G>A (p.Val886Met) c.2647G>A (p.Val883Met) c.2674G>A (p.Val892Met) c.2671G>A (p.Val891Met) c.2653G>A (p.Val885Met) c.2596G>A (p.Val866Met) c.2530G>A (p.Val844Met) c.1096G>A (p.Val366Met) c.448G>A (p.Val150Met) c.2509G>A (p.Val837Met) c.2644G>A (p.Val882Met) c.2650G>A (p.Val884Met) c.2566G>A (p.Val856Met) c.2494G>A (p.Val832Met) c.2428G>A (p.Val810Met) c.1789G>A (p.Val597Met) c.2407G>A (p.Val803Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800937G>C | CA375788917 | EHMT1 | c.2665G>C (p.Val889Leu) c.2551G>C (p.Val851Leu) c.2572G>C (p.Val858Leu) c.2705G>C (n.2705G>C) c.559G>C (p.Val187Leu) c.343G>C (p.Val115Leu) c.1522G>C (p.Val508Leu) c.235G>C (p.Val79Leu) c.243G>C n.191G>C c.2656G>C (p.Val886Leu) c.2647G>C (p.Val883Leu) c.2674G>C (p.Val892Leu) c.2671G>C (p.Val891Leu) c.2653G>C (p.Val885Leu) c.2596G>C (p.Val866Leu) c.2530G>C (p.Val844Leu) c.1096G>C (p.Val366Leu) c.448G>C (p.Val150Leu) c.2509G>C (p.Val837Leu) c.2644G>C (p.Val882Leu) c.2650G>C (p.Val884Leu) c.2566G>C (p.Val856Leu) c.2494G>C (p.Val832Leu) c.2428G>C (p.Val810Leu) c.1789G>C (p.Val597Leu) c.2407G>C (p.Val803Leu) | |
9 | g.137800937G= | CA1884679281 | EHMT1 | c.2665G= (p.Val889=) c.2551G= (p.Val851=) c.2572G= (p.Val858=) c.2705G= (n.2705G=) c.559G= (p.Val187=) c.343G= (p.Val115=) c.1522G= (p.Val508=) c.235G= (p.Val79=) c.243G= n.191G= c.2656G= (p.Val886=) c.2647G= (p.Val883=) c.2674G= (p.Val892=) c.2671G= (p.Val891=) c.2653G= (p.Val885=) c.2596G= (p.Val866=) c.2530G= (p.Val844=) c.1096G= (p.Val366=) c.448G= (p.Val150=) c.2509G= (p.Val837=) c.2644G= (p.Val882=) c.2650G= (p.Val884=) c.2566G= (p.Val856=) c.2494G= (p.Val832=) c.2428G= (p.Val810=) c.1789G= (p.Val597=) c.2407G= (p.Val803=) | |
9 | g.137800937G>T | CA375788918 | EHMT1 | c.2665G>T (p.Val889Leu) c.2551G>T (p.Val851Leu) c.2572G>T (p.Val858Leu) c.2705G>T (n.2705G>T) c.559G>T (p.Val187Leu) c.343G>T (p.Val115Leu) c.1522G>T (p.Val508Leu) c.235G>T (p.Val79Leu) c.243G>T n.191G>T c.2656G>T (p.Val886Leu) c.2647G>T (p.Val883Leu) c.2674G>T (p.Val892Leu) c.2671G>T (p.Val891Leu) c.2653G>T (p.Val885Leu) c.2596G>T (p.Val866Leu) c.2530G>T (p.Val844Leu) c.1096G>T (p.Val366Leu) c.448G>T (p.Val150Leu) c.2509G>T (p.Val837Leu) c.2644G>T (p.Val882Leu) c.2650G>T (p.Val884Leu) c.2566G>T (p.Val856Leu) c.2494G>T (p.Val832Leu) c.2428G>T (p.Val810Leu) c.1789G>T (p.Val597Leu) c.2407G>T (p.Val803Leu) | |
9 | g.137800938T>A | CA375788920 | EHMT1 | c.2666T>A (p.Val889Glu) c.2552T>A (p.Val851Glu) c.2573T>A (p.Val858Glu) c.2706T>A (n.2706T>A) c.560T>A (p.Val187Glu) c.344T>A (p.Val115Glu) c.1523T>A (p.Val508Glu) c.236T>A (p.Val79Glu) c.244T>A n.192T>A c.2657T>A (p.Val886Glu) c.2648T>A (p.Val883Glu) c.2675T>A (p.Val892Glu) c.2672T>A (p.Val891Glu) c.2654T>A (p.Val885Glu) c.2597T>A (p.Val866Glu) c.2531T>A (p.Val844Glu) c.1097T>A (p.Val366Glu) c.449T>A (p.Val150Glu) c.2510T>A (p.Val837Glu) c.2645T>A (p.Val882Glu) c.2651T>A (p.Val884Glu) c.2567T>A (p.Val856Glu) c.2495T>A (p.Val832Glu) c.2429T>A (p.Val810Glu) c.1790T>A (p.Val597Glu) c.2408T>A (p.Val803Glu) | |
9 | g.137800938T>C | CA375788922 | EHMT1 | c.2666T>C (p.Val889Ala) c.2552T>C (p.Val851Ala) c.2573T>C (p.Val858Ala) c.2706T>C (n.2706T>C) c.560T>C (p.Val187Ala) c.344T>C (p.Val115Ala) c.1523T>C (p.Val508Ala) c.236T>C (p.Val79Ala) c.244T>C n.192T>C c.2657T>C (p.Val886Ala) c.2648T>C (p.Val883Ala) c.2675T>C (p.Val892Ala) c.2672T>C (p.Val891Ala) c.2654T>C (p.Val885Ala) c.2597T>C (p.Val866Ala) c.2531T>C (p.Val844Ala) c.1097T>C (p.Val366Ala) c.449T>C (p.Val150Ala) c.2510T>C (p.Val837Ala) c.2645T>C (p.Val882Ala) c.2651T>C (p.Val884Ala) c.2567T>C (p.Val856Ala) c.2495T>C (p.Val832Ala) c.2429T>C (p.Val810Ala) c.1790T>C (p.Val597Ala) c.2408T>C (p.Val803Ala) | |
9 | g.137800938T>G | CA375788924 | EHMT1 | c.2666T>G (p.Val889Gly) c.2552T>G (p.Val851Gly) c.2573T>G (p.Val858Gly) c.2706T>G (n.2706T>G) c.560T>G (p.Val187Gly) c.344T>G (p.Val115Gly) c.1523T>G (p.Val508Gly) c.236T>G (p.Val79Gly) c.244T>G n.192T>G c.2657T>G (p.Val886Gly) c.2648T>G (p.Val883Gly) c.2675T>G (p.Val892Gly) c.2672T>G (p.Val891Gly) c.2654T>G (p.Val885Gly) c.2597T>G (p.Val866Gly) c.2531T>G (p.Val844Gly) c.1097T>G (p.Val366Gly) c.449T>G (p.Val150Gly) c.2510T>G (p.Val837Gly) c.2645T>G (p.Val882Gly) c.2651T>G (p.Val884Gly) c.2567T>G (p.Val856Gly) c.2495T>G (p.Val832Gly) c.2429T>G (p.Val810Gly) c.1790T>G (p.Val597Gly) c.2408T>G (p.Val803Gly) | gnomAD v4 |
9 | g.137800939G>A | CA467877638 | EHMT1 | c.2667G>A (p.Val889=) c.2553G>A (p.Val851=) c.2574G>A (p.Val858=) c.2707G>A (n.2707G>A) c.561G>A (p.Val187=) c.345G>A (p.Val115=) c.1524G>A (p.Val508=) c.237G>A (p.Val79=) c.245G>A n.193G>A c.2658G>A (p.Val886=) c.2649G>A (p.Val883=) c.2676G>A (p.Val892=) c.2673G>A (p.Val891=) c.2655G>A (p.Val885=) c.2598G>A (p.Val866=) c.2532G>A (p.Val844=) c.1098G>A (p.Val366=) c.450G>A (p.Val150=) c.2511G>A (p.Val837=) c.2646G>A (p.Val882=) c.2652G>A (p.Val884=) c.2568G>A (p.Val856=) c.2496G>A (p.Val832=) c.2430G>A (p.Val810=) c.1791G>A (p.Val597=) c.2409G>A (p.Val803=) | gnomAD v4 |
9 | g.137800939G>C | CA467877640 | EHMT1 | c.2667G>C (p.Val889=) c.2553G>C (p.Val851=) c.2574G>C (p.Val858=) c.2707G>C (n.2707G>C) c.561G>C (p.Val187=) c.345G>C (p.Val115=) c.1524G>C (p.Val508=) c.237G>C (p.Val79=) c.245G>C n.193G>C c.2658G>C (p.Val886=) c.2649G>C (p.Val883=) c.2676G>C (p.Val892=) c.2673G>C (p.Val891=) c.2655G>C (p.Val885=) c.2598G>C (p.Val866=) c.2532G>C (p.Val844=) c.1098G>C (p.Val366=) c.450G>C (p.Val150=) c.2511G>C (p.Val837=) c.2646G>C (p.Val882=) c.2652G>C (p.Val884=) c.2568G>C (p.Val856=) c.2496G>C (p.Val832=) c.2430G>C (p.Val810=) c.1791G>C (p.Val597=) c.2409G>C (p.Val803=) | gnomAD v4 |
9 | g.137800939G>T | CA467877639 | EHMT1 | c.2667G>T (p.Val889=) c.2553G>T (p.Val851=) c.2574G>T (p.Val858=) c.2707G>T (n.2707G>T) c.561G>T (p.Val187=) c.345G>T (p.Val115=) c.1524G>T (p.Val508=) c.237G>T (p.Val79=) c.245G>T n.193G>T c.2658G>T (p.Val886=) c.2649G>T (p.Val883=) c.2676G>T (p.Val892=) c.2673G>T (p.Val891=) c.2655G>T (p.Val885=) c.2598G>T (p.Val866=) c.2532G>T (p.Val844=) c.1098G>T (p.Val366=) c.450G>T (p.Val150=) c.2511G>T (p.Val837=) c.2646G>T (p.Val882=) c.2652G>T (p.Val884=) c.2568G>T (p.Val856=) c.2496G>T (p.Val832=) c.2430G>T (p.Val810=) c.1791G>T (p.Val597=) c.2409G>T (p.Val803=) | |
9 | g.137800940A>C | CA375788925 | EHMT1 | c.2668A>C (p.Lys890Gln) c.2554A>C (p.Lys852Gln) c.2575A>C (p.Lys859Gln) c.2708A>C (n.2708A>C) c.562A>C (p.Lys188Gln) c.346A>C (p.Lys116Gln) c.1525A>C (p.Lys509Gln) c.238A>C (p.Lys80Gln) c.246A>C n.194A>C c.2659A>C (p.Lys887Gln) c.2650A>C (p.Lys884Gln) c.2677A>C (p.Lys893Gln) c.2674A>C (p.Lys892Gln) c.2656A>C (p.Lys886Gln) c.2599A>C (p.Lys867Gln) c.2533A>C (p.Lys845Gln) c.1099A>C (p.Lys367Gln) c.451A>C (p.Lys151Gln) c.2512A>C (p.Lys838Gln) c.2647A>C (p.Lys883Gln) c.2653A>C (p.Lys885Gln) c.2569A>C (p.Lys857Gln) c.2497A>C (p.Lys833Gln) c.2431A>C (p.Lys811Gln) c.1792A>C (p.Lys598Gln) c.2410A>C (p.Lys804Gln) | |
9 | g.137800940A>G | CA375788927 | EHMT1 | c.2668A>G (p.Lys890Glu) c.2554A>G (p.Lys852Glu) c.2575A>G (p.Lys859Glu) c.2708A>G (n.2708A>G) c.562A>G (p.Lys188Glu) c.346A>G (p.Lys116Glu) c.1525A>G (p.Lys509Glu) c.238A>G (p.Lys80Glu) c.246A>G n.194A>G c.2659A>G (p.Lys887Glu) c.2650A>G (p.Lys884Glu) c.2677A>G (p.Lys893Glu) c.2674A>G (p.Lys892Glu) c.2656A>G (p.Lys886Glu) c.2599A>G (p.Lys867Glu) c.2533A>G (p.Lys845Glu) c.1099A>G (p.Lys367Glu) c.451A>G (p.Lys151Glu) c.2512A>G (p.Lys838Glu) c.2647A>G (p.Lys883Glu) c.2653A>G (p.Lys885Glu) c.2569A>G (p.Lys857Glu) c.2497A>G (p.Lys833Glu) c.2431A>G (p.Lys811Glu) c.1792A>G (p.Lys598Glu) c.2410A>G (p.Lys804Glu) | gnomAD v4 |
9 | g.137800940A>T | CA375788929 | EHMT1 | c.2668A>T (p.Lys890Ter) c.2554A>T (p.Lys852Ter) c.2575A>T (p.Lys859Ter) c.2708A>T (n.2708A>T) c.562A>T (p.Lys188Ter) c.346A>T (p.Lys116Ter) c.1525A>T (p.Lys509Ter) c.238A>T (p.Lys80Ter) c.246A>T n.194A>T c.2659A>T (p.Lys887Ter) c.2650A>T (p.Lys884Ter) c.2677A>T (p.Lys893Ter) c.2674A>T (p.Lys892Ter) c.2656A>T (p.Lys886Ter) c.2599A>T (p.Lys867Ter) c.2533A>T (p.Lys845Ter) c.1099A>T (p.Lys367Ter) c.451A>T (p.Lys151Ter) c.2512A>T (p.Lys838Ter) c.2647A>T (p.Lys883Ter) c.2653A>T (p.Lys885Ter) c.2569A>T (p.Lys857Ter) c.2497A>T (p.Lys833Ter) c.2431A>T (p.Lys811Ter) c.1792A>T (p.Lys598Ter) c.2410A>T (p.Lys804Ter) | |
9 | g.137800941A>C | CA375788931 | EHMT1 | c.2669A>C (p.Lys890Thr) c.2555A>C (p.Lys852Thr) c.2576A>C (p.Lys859Thr) c.2709A>C (n.2709A>C) c.563A>C (p.Lys188Thr) c.347A>C (p.Lys116Thr) c.1526A>C (p.Lys509Thr) c.239A>C (p.Lys80Thr) c.247A>C n.195A>C c.2660A>C (p.Lys887Thr) c.2651A>C (p.Lys884Thr) c.2678A>C (p.Lys893Thr) c.2675A>C (p.Lys892Thr) c.2657A>C (p.Lys886Thr) c.2600A>C (p.Lys867Thr) c.2534A>C (p.Lys845Thr) c.1100A>C (p.Lys367Thr) c.452A>C (p.Lys151Thr) c.2513A>C (p.Lys838Thr) c.2648A>C (p.Lys883Thr) c.2654A>C (p.Lys885Thr) c.2570A>C (p.Lys857Thr) c.2498A>C (p.Lys833Thr) c.2432A>C (p.Lys811Thr) c.1793A>C (p.Lys598Thr) c.2411A>C (p.Lys804Thr) | |
9 | g.137800941A>G | CA375788932 | EHMT1 | c.2669A>G (p.Lys890Arg) c.2555A>G (p.Lys852Arg) c.2576A>G (p.Lys859Arg) c.2709A>G (n.2709A>G) c.563A>G (p.Lys188Arg) c.347A>G (p.Lys116Arg) c.1526A>G (p.Lys509Arg) c.239A>G (p.Lys80Arg) c.247A>G n.195A>G c.2660A>G (p.Lys887Arg) c.2651A>G (p.Lys884Arg) c.2678A>G (p.Lys893Arg) c.2675A>G (p.Lys892Arg) c.2657A>G (p.Lys886Arg) c.2600A>G (p.Lys867Arg) c.2534A>G (p.Lys845Arg) c.1100A>G (p.Lys367Arg) c.452A>G (p.Lys151Arg) c.2513A>G (p.Lys838Arg) c.2648A>G (p.Lys883Arg) c.2654A>G (p.Lys885Arg) c.2570A>G (p.Lys857Arg) c.2498A>G (p.Lys833Arg) c.2432A>G (p.Lys811Arg) c.1793A>G (p.Lys598Arg) c.2411A>G (p.Lys804Arg) | |
9 | g.137800941A>T | CA375788934 | EHMT1 | c.2669A>T (p.Lys890Met) c.2555A>T (p.Lys852Met) c.2576A>T (p.Lys859Met) c.2709A>T (n.2709A>T) c.563A>T (p.Lys188Met) c.347A>T (p.Lys116Met) c.1526A>T (p.Lys509Met) c.239A>T (p.Lys80Met) c.247A>T n.195A>T c.2660A>T (p.Lys887Met) c.2651A>T (p.Lys884Met) c.2678A>T (p.Lys893Met) c.2675A>T (p.Lys892Met) c.2657A>T (p.Lys886Met) c.2600A>T (p.Lys867Met) c.2534A>T (p.Lys845Met) c.1100A>T (p.Lys367Met) c.452A>T (p.Lys151Met) c.2513A>T (p.Lys838Met) c.2648A>T (p.Lys883Met) c.2654A>T (p.Lys885Met) c.2570A>T (p.Lys857Met) c.2498A>T (p.Lys833Met) c.2432A>T (p.Lys811Met) c.1793A>T (p.Lys598Met) c.2411A>T (p.Lys804Met) | |
9 | g.137800942G>A | CA467877642 | EHMT1 | c.2670G>A (p.Lys890=) c.2556G>A (p.Lys852=) c.2577G>A (p.Lys859=) c.2710G>A (n.2710G>A) c.564G>A (p.Lys188=) c.348G>A (p.Lys116=) c.1527G>A (p.Lys509=) c.240G>A (p.Lys80=) c.248G>A n.196G>A c.2661G>A (p.Lys887=) c.2652G>A (p.Lys884=) c.2679G>A (p.Lys893=) c.2676G>A (p.Lys892=) c.2658G>A (p.Lys886=) c.2601G>A (p.Lys867=) c.2535G>A (p.Lys845=) c.1101G>A (p.Lys367=) c.453G>A (p.Lys151=) c.2514G>A (p.Lys838=) c.2649G>A (p.Lys883=) c.2655G>A (p.Lys885=) c.2571G>A (p.Lys857=) c.2499G>A (p.Lys833=) c.2433G>A (p.Lys811=) c.1794G>A (p.Lys598=) c.2412G>A (p.Lys804=) | |
9 | g.137800942G>C | CA375788938 | EHMT1 | c.2670G>C (p.Lys890Asn) c.2556G>C (p.Lys852Asn) c.2577G>C (p.Lys859Asn) c.2710G>C (n.2710G>C) c.564G>C (p.Lys188Asn) c.348G>C (p.Lys116Asn) c.1527G>C (p.Lys509Asn) c.240G>C (p.Lys80Asn) c.248G>C n.196G>C c.2661G>C (p.Lys887Asn) c.2652G>C (p.Lys884Asn) c.2679G>C (p.Lys893Asn) c.2676G>C (p.Lys892Asn) c.2658G>C (p.Lys886Asn) c.2601G>C (p.Lys867Asn) c.2535G>C (p.Lys845Asn) c.1101G>C (p.Lys367Asn) c.453G>C (p.Lys151Asn) c.2514G>C (p.Lys838Asn) c.2649G>C (p.Lys883Asn) c.2655G>C (p.Lys885Asn) c.2571G>C (p.Lys857Asn) c.2499G>C (p.Lys833Asn) c.2433G>C (p.Lys811Asn) c.1794G>C (p.Lys598Asn) c.2412G>C (p.Lys804Asn) | |
9 | g.137800942G= | CA1884679282 | EHMT1 | c.2670G= (p.Lys890=) c.2556G= (p.Lys852=) c.2577G= (p.Lys859=) c.2710G= (n.2710G=) c.564G= (p.Lys188=) c.348G= (p.Lys116=) c.1527G= (p.Lys509=) c.240G= (p.Lys80=) c.248G= n.196G= c.2661G= (p.Lys887=) c.2652G= (p.Lys884=) c.2679G= (p.Lys893=) c.2676G= (p.Lys892=) c.2658G= (p.Lys886=) c.2601G= (p.Lys867=) c.2535G= (p.Lys845=) c.1101G= (p.Lys367=) c.453G= (p.Lys151=) c.2514G= (p.Lys838=) c.2649G= (p.Lys883=) c.2655G= (p.Lys885=) c.2571G= (p.Lys857=) c.2499G= (p.Lys833=) c.2433G= (p.Lys811=) c.1794G= (p.Lys598=) c.2412G= (p.Lys804=) | |
9 | g.137800942G>T | CA375788936 | EHMT1 | c.2670G>T (p.Lys890Asn) c.2556G>T (p.Lys852Asn) c.2577G>T (p.Lys859Asn) c.2710G>T (n.2710G>T) c.564G>T (p.Lys188Asn) c.348G>T (p.Lys116Asn) c.1527G>T (p.Lys509Asn) c.240G>T (p.Lys80Asn) c.248G>T n.196G>T c.2661G>T (p.Lys887Asn) c.2652G>T (p.Lys884Asn) c.2679G>T (p.Lys893Asn) c.2676G>T (p.Lys892Asn) c.2658G>T (p.Lys886Asn) c.2601G>T (p.Lys867Asn) c.2535G>T (p.Lys845Asn) c.1101G>T (p.Lys367Asn) c.453G>T (p.Lys151Asn) c.2514G>T (p.Lys838Asn) c.2649G>T (p.Lys883Asn) c.2655G>T (p.Lys885Asn) c.2571G>T (p.Lys857Asn) c.2499G>T (p.Lys833Asn) c.2433G>T (p.Lys811Asn) c.1794G>T (p.Lys598Asn) c.2412G>T (p.Lys804Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800943C>A | CA375788940 | EHMT1 | c.2671C>A (p.Leu891Met) c.2557C>A (p.Leu853Met) c.2578C>A (p.Leu860Met) c.2711C>A (n.2711C>A) c.565C>A (p.Leu189Met) c.349C>A (p.Leu117Met) c.1528C>A (p.Leu510Met) c.241C>A (p.Leu81Met) c.249C>A n.197C>A c.2662C>A (p.Leu888Met) c.2653C>A (p.Leu885Met) c.2680C>A (p.Leu894Met) c.2677C>A (p.Leu893Met) c.2659C>A (p.Leu887Met) c.2602C>A (p.Leu868Met) c.2536C>A (p.Leu846Met) c.1102C>A (p.Leu368Met) c.454C>A (p.Leu152Met) c.2515C>A (p.Leu839Met) c.2650C>A (p.Leu884Met) c.2656C>A (p.Leu886Met) c.2572C>A (p.Leu858Met) c.2500C>A (p.Leu834Met) c.2434C>A (p.Leu812Met) c.1795C>A (p.Leu599Met) c.2413C>A (p.Leu805Met) | |
9 | g.137800943C>G | CA375788941 | EHMT1 | c.2671C>G (p.Leu891Val) c.2557C>G (p.Leu853Val) c.2578C>G (p.Leu860Val) c.2711C>G (n.2711C>G) c.565C>G (p.Leu189Val) c.349C>G (p.Leu117Val) c.1528C>G (p.Leu510Val) c.241C>G (p.Leu81Val) c.249C>G n.197C>G c.2662C>G (p.Leu888Val) c.2653C>G (p.Leu885Val) c.2680C>G (p.Leu894Val) c.2677C>G (p.Leu893Val) c.2659C>G (p.Leu887Val) c.2602C>G (p.Leu868Val) c.2536C>G (p.Leu846Val) c.1102C>G (p.Leu368Val) c.454C>G (p.Leu152Val) c.2515C>G (p.Leu839Val) c.2650C>G (p.Leu884Val) c.2656C>G (p.Leu886Val) c.2572C>G (p.Leu858Val) c.2500C>G (p.Leu834Val) c.2434C>G (p.Leu812Val) c.1795C>G (p.Leu599Val) c.2413C>G (p.Leu805Val) | |
9 | g.137800943C>T | CA467877643 | EHMT1 | c.2671C>T (p.Leu891=) c.2557C>T (p.Leu853=) c.2578C>T (p.Leu860=) c.2711C>T (n.2711C>T) c.565C>T (p.Leu189=) c.349C>T (p.Leu117=) c.1528C>T (p.Leu510=) c.241C>T (p.Leu81=) c.249C>T n.197C>T c.2662C>T (p.Leu888=) c.2653C>T (p.Leu885=) c.2680C>T (p.Leu894=) c.2677C>T (p.Leu893=) c.2659C>T (p.Leu887=) c.2602C>T (p.Leu868=) c.2536C>T (p.Leu846=) c.1102C>T (p.Leu368=) c.454C>T (p.Leu152=) c.2515C>T (p.Leu839=) c.2650C>T (p.Leu884=) c.2656C>T (p.Leu886=) c.2572C>T (p.Leu858=) c.2500C>T (p.Leu834=) c.2434C>T (p.Leu812=) c.1795C>T (p.Leu599=) c.2413C>T (p.Leu805=) | |
9 | g.137800944T>A | CA375788943 | EHMT1 | c.2672T>A (p.Leu891Gln) c.2558T>A (p.Leu853Gln) c.2579T>A (p.Leu860Gln) c.2712T>A (n.2712T>A) c.566T>A (p.Leu189Gln) c.350T>A (p.Leu117Gln) c.1529T>A (p.Leu510Gln) c.242T>A (p.Leu81Gln) c.250T>A n.198T>A c.2663T>A (p.Leu888Gln) c.2654T>A (p.Leu885Gln) c.2681T>A (p.Leu894Gln) c.2678T>A (p.Leu893Gln) c.2660T>A (p.Leu887Gln) c.2603T>A (p.Leu868Gln) c.2537T>A (p.Leu846Gln) c.1103T>A (p.Leu368Gln) c.455T>A (p.Leu152Gln) c.2516T>A (p.Leu839Gln) c.2651T>A (p.Leu884Gln) c.2657T>A (p.Leu886Gln) c.2573T>A (p.Leu858Gln) c.2501T>A (p.Leu834Gln) c.2435T>A (p.Leu812Gln) c.1796T>A (p.Leu599Gln) c.2414T>A (p.Leu805Gln) | |
9 | g.137800944T>C | CA375788944 | EHMT1 | c.2672T>C (p.Leu891Pro) c.2558T>C (p.Leu853Pro) c.2579T>C (p.Leu860Pro) c.2712T>C (n.2712T>C) c.566T>C (p.Leu189Pro) c.350T>C (p.Leu117Pro) c.1529T>C (p.Leu510Pro) c.242T>C (p.Leu81Pro) c.250T>C n.198T>C c.2663T>C (p.Leu888Pro) c.2654T>C (p.Leu885Pro) c.2681T>C (p.Leu894Pro) c.2678T>C (p.Leu893Pro) c.2660T>C (p.Leu887Pro) c.2603T>C (p.Leu868Pro) c.2537T>C (p.Leu846Pro) c.1103T>C (p.Leu368Pro) c.455T>C (p.Leu152Pro) c.2516T>C (p.Leu839Pro) c.2651T>C (p.Leu884Pro) c.2657T>C (p.Leu886Pro) c.2573T>C (p.Leu858Pro) c.2501T>C (p.Leu834Pro) c.2435T>C (p.Leu812Pro) c.1796T>C (p.Leu599Pro) c.2414T>C (p.Leu805Pro) | ClinVar dbSNP |
9 | g.137800944T>G | CA375788946 | EHMT1 | c.2672T>G (p.Leu891Arg) c.2558T>G (p.Leu853Arg) c.2579T>G (p.Leu860Arg) c.2712T>G (n.2712T>G) c.566T>G (p.Leu189Arg) c.350T>G (p.Leu117Arg) c.1529T>G (p.Leu510Arg) c.242T>G (p.Leu81Arg) c.250T>G n.198T>G c.2663T>G (p.Leu888Arg) c.2654T>G (p.Leu885Arg) c.2681T>G (p.Leu894Arg) c.2678T>G (p.Leu893Arg) c.2660T>G (p.Leu887Arg) c.2603T>G (p.Leu868Arg) c.2537T>G (p.Leu846Arg) c.1103T>G (p.Leu368Arg) c.455T>G (p.Leu152Arg) c.2516T>G (p.Leu839Arg) c.2651T>G (p.Leu884Arg) c.2657T>G (p.Leu886Arg) c.2573T>G (p.Leu858Arg) c.2501T>G (p.Leu834Arg) c.2435T>G (p.Leu812Arg) c.1796T>G (p.Leu599Arg) c.2414T>G (p.Leu805Arg) | |
9 | g.137800945G>A | CA467877644 | EHMT1 | c.2673G>A (p.Leu891=) c.2559G>A (p.Leu853=) c.2580G>A (p.Leu860=) c.2713G>A (n.2713G>A) c.567G>A (p.Leu189=) c.351G>A (p.Leu117=) c.1530G>A (p.Leu510=) c.243G>A (p.Leu81=) c.251G>A n.199G>A c.2664G>A (p.Leu888=) c.2655G>A (p.Leu885=) c.2682G>A (p.Leu894=) c.2679G>A (p.Leu893=) c.2661G>A (p.Leu887=) c.2604G>A (p.Leu868=) c.2538G>A (p.Leu846=) c.1104G>A (p.Leu368=) c.456G>A (p.Leu152=) c.2517G>A (p.Leu839=) c.2652G>A (p.Leu884=) c.2658G>A (p.Leu886=) c.2574G>A (p.Leu858=) c.2502G>A (p.Leu834=) c.2436G>A (p.Leu812=) c.1797G>A (p.Leu599=) c.2415G>A (p.Leu805=) | |
9 | g.137800945G>C | CA467877646 | EHMT1 | c.2673G>C (p.Leu891=) c.2559G>C (p.Leu853=) c.2580G>C (p.Leu860=) c.2713G>C (n.2713G>C) c.567G>C (p.Leu189=) c.351G>C (p.Leu117=) c.1530G>C (p.Leu510=) c.243G>C (p.Leu81=) c.251G>C n.199G>C c.2664G>C (p.Leu888=) c.2655G>C (p.Leu885=) c.2682G>C (p.Leu894=) c.2679G>C (p.Leu893=) c.2661G>C (p.Leu887=) c.2604G>C (p.Leu868=) c.2538G>C (p.Leu846=) c.1104G>C (p.Leu368=) c.456G>C (p.Leu152=) c.2517G>C (p.Leu839=) c.2652G>C (p.Leu884=) c.2658G>C (p.Leu886=) c.2574G>C (p.Leu858=) c.2502G>C (p.Leu834=) c.2436G>C (p.Leu812=) c.1797G>C (p.Leu599=) c.2415G>C (p.Leu805=) | |
9 | g.137800945G>T | CA467877645 | EHMT1 | c.2673G>T (p.Leu891=) c.2559G>T (p.Leu853=) c.2580G>T (p.Leu860=) c.2713G>T (n.2713G>T) c.567G>T (p.Leu189=) c.351G>T (p.Leu117=) c.1530G>T (p.Leu510=) c.243G>T (p.Leu81=) c.251G>T n.199G>T c.2664G>T (p.Leu888=) c.2655G>T (p.Leu885=) c.2682G>T (p.Leu894=) c.2679G>T (p.Leu893=) c.2661G>T (p.Leu887=) c.2604G>T (p.Leu868=) c.2538G>T (p.Leu846=) c.1104G>T (p.Leu368=) c.456G>T (p.Leu152=) c.2517G>T (p.Leu839=) c.2652G>T (p.Leu884=) c.2658G>T (p.Leu886=) c.2574G>T (p.Leu858=) c.2502G>T (p.Leu834=) c.2436G>T (p.Leu812=) c.1797G>T (p.Leu599=) c.2415G>T (p.Leu805=) | |
9 | g.137800946C>A | CA375788947 | EHMT1 | c.2674C>A (p.Leu892Met) c.2560C>A (p.Leu854Met) c.2581C>A (p.Leu861Met) c.2714C>A (n.2714C>A) c.568C>A (p.Leu190Met) c.352C>A (p.Leu118Met) c.1531C>A (p.Leu511Met) c.244C>A (p.Leu82Met) c.252C>A n.200C>A c.2665C>A (p.Leu889Met) c.2656C>A (p.Leu886Met) c.2683C>A (p.Leu895Met) c.2680C>A (p.Leu894Met) c.2662C>A (p.Leu888Met) c.2605C>A (p.Leu869Met) c.2539C>A (p.Leu847Met) c.1105C>A (p.Leu369Met) c.457C>A (p.Leu153Met) c.2518C>A (p.Leu840Met) c.2653C>A (p.Leu885Met) c.2659C>A (p.Leu887Met) c.2575C>A (p.Leu859Met) c.2503C>A (p.Leu835Met) c.2437C>A (p.Leu813Met) c.1798C>A (p.Leu600Met) c.2416C>A (p.Leu806Met) | |
9 | g.137800946C>G | CA375788948 | EHMT1 | c.2674C>G (p.Leu892Val) c.2560C>G (p.Leu854Val) c.2581C>G (p.Leu861Val) c.2714C>G (n.2714C>G) c.568C>G (p.Leu190Val) c.352C>G (p.Leu118Val) c.1531C>G (p.Leu511Val) c.244C>G (p.Leu82Val) c.252C>G n.200C>G c.2665C>G (p.Leu889Val) c.2656C>G (p.Leu886Val) c.2683C>G (p.Leu895Val) c.2680C>G (p.Leu894Val) c.2662C>G (p.Leu888Val) c.2605C>G (p.Leu869Val) c.2539C>G (p.Leu847Val) c.1105C>G (p.Leu369Val) c.457C>G (p.Leu153Val) c.2518C>G (p.Leu840Val) c.2653C>G (p.Leu885Val) c.2659C>G (p.Leu887Val) c.2575C>G (p.Leu859Val) c.2503C>G (p.Leu835Val) c.2437C>G (p.Leu813Val) c.1798C>G (p.Leu600Val) c.2416C>G (p.Leu806Val) | |
9 | g.137800946C>T | CA467877647 | EHMT1 | c.2674C>T (p.Leu892=) c.2560C>T (p.Leu854=) c.2581C>T (p.Leu861=) c.2714C>T (n.2714C>T) c.568C>T (p.Leu190=) c.352C>T (p.Leu118=) c.1531C>T (p.Leu511=) c.244C>T (p.Leu82=) c.252C>T n.200C>T c.2665C>T (p.Leu889=) c.2656C>T (p.Leu886=) c.2683C>T (p.Leu895=) c.2680C>T (p.Leu894=) c.2662C>T (p.Leu888=) c.2605C>T (p.Leu869=) c.2539C>T (p.Leu847=) c.1105C>T (p.Leu369=) c.457C>T (p.Leu153=) c.2518C>T (p.Leu840=) c.2653C>T (p.Leu885=) c.2659C>T (p.Leu887=) c.2575C>T (p.Leu859=) c.2503C>T (p.Leu835=) c.2437C>T (p.Leu813=) c.1798C>T (p.Leu600=) c.2416C>T (p.Leu806=) | |
9 | g.137800947T>A | CA375788950 | EHMT1 | c.2675T>A (p.Leu892Gln) c.2561T>A (p.Leu854Gln) c.2582T>A (p.Leu861Gln) c.2715T>A (n.2715T>A) c.569T>A (p.Leu190Gln) c.353T>A (p.Leu118Gln) c.1532T>A (p.Leu511Gln) c.245T>A (p.Leu82Gln) c.253T>A n.201T>A c.2666T>A (p.Leu889Gln) c.2657T>A (p.Leu886Gln) c.2684T>A (p.Leu895Gln) c.2681T>A (p.Leu894Gln) c.2663T>A (p.Leu888Gln) c.2606T>A (p.Leu869Gln) c.2540T>A (p.Leu847Gln) c.1106T>A (p.Leu369Gln) c.458T>A (p.Leu153Gln) c.2519T>A (p.Leu840Gln) c.2654T>A (p.Leu885Gln) c.2660T>A (p.Leu887Gln) c.2576T>A (p.Leu859Gln) c.2504T>A (p.Leu835Gln) c.2438T>A (p.Leu813Gln) c.1799T>A (p.Leu600Gln) c.2417T>A (p.Leu806Gln) | |
9 | g.137800947T>C | CA375788951 | EHMT1 | c.2675T>C (p.Leu892Pro) c.2561T>C (p.Leu854Pro) c.2582T>C (p.Leu861Pro) c.2715T>C (n.2715T>C) c.569T>C (p.Leu190Pro) c.353T>C (p.Leu118Pro) c.1532T>C (p.Leu511Pro) c.245T>C (p.Leu82Pro) c.253T>C n.201T>C c.2666T>C (p.Leu889Pro) c.2657T>C (p.Leu886Pro) c.2684T>C (p.Leu895Pro) c.2681T>C (p.Leu894Pro) c.2663T>C (p.Leu888Pro) c.2606T>C (p.Leu869Pro) c.2540T>C (p.Leu847Pro) c.1106T>C (p.Leu369Pro) c.458T>C (p.Leu153Pro) c.2519T>C (p.Leu840Pro) c.2654T>C (p.Leu885Pro) c.2660T>C (p.Leu887Pro) c.2576T>C (p.Leu859Pro) c.2504T>C (p.Leu835Pro) c.2438T>C (p.Leu813Pro) c.1799T>C (p.Leu600Pro) c.2417T>C (p.Leu806Pro) | |
9 | g.137800947T>G | CA375788953 | EHMT1 | c.2675T>G (p.Leu892Arg) c.2561T>G (p.Leu854Arg) c.2582T>G (p.Leu861Arg) c.2715T>G (n.2715T>G) c.569T>G (p.Leu190Arg) c.353T>G (p.Leu118Arg) c.1532T>G (p.Leu511Arg) c.245T>G (p.Leu82Arg) c.253T>G n.201T>G c.2666T>G (p.Leu889Arg) c.2657T>G (p.Leu886Arg) c.2684T>G (p.Leu895Arg) c.2681T>G (p.Leu894Arg) c.2663T>G (p.Leu888Arg) c.2606T>G (p.Leu869Arg) c.2540T>G (p.Leu847Arg) c.1106T>G (p.Leu369Arg) c.458T>G (p.Leu153Arg) c.2519T>G (p.Leu840Arg) c.2654T>G (p.Leu885Arg) c.2660T>G (p.Leu887Arg) c.2576T>G (p.Leu859Arg) c.2504T>G (p.Leu835Arg) c.2438T>G (p.Leu813Arg) c.1799T>G (p.Leu600Arg) c.2417T>G (p.Leu806Arg) | |
9 | g.137800948G>A | CA467877648 | EHMT1 | c.2676G>A (p.Leu892=) c.2562G>A (p.Leu854=) c.2583G>A (p.Leu861=) c.2716G>A (n.2716G>A) c.570G>A (p.Leu190=) c.354G>A (p.Leu118=) c.1533G>A (p.Leu511=) c.246G>A (p.Leu82=) c.254G>A n.202G>A c.2667G>A (p.Leu889=) c.2658G>A (p.Leu886=) c.2685G>A (p.Leu895=) c.2682G>A (p.Leu894=) c.2664G>A (p.Leu888=) c.2607G>A (p.Leu869=) c.2541G>A (p.Leu847=) c.1107G>A (p.Leu369=) c.459G>A (p.Leu153=) c.2520G>A (p.Leu840=) c.2655G>A (p.Leu885=) c.2661G>A (p.Leu887=) c.2577G>A (p.Leu859=) c.2505G>A (p.Leu835=) c.2439G>A (p.Leu813=) c.1800G>A (p.Leu600=) c.2418G>A (p.Leu806=) | |
9 | g.137800948G>C | CA467877649 | EHMT1 | c.2676G>C (p.Leu892=) c.2562G>C (p.Leu854=) c.2583G>C (p.Leu861=) c.2716G>C (n.2716G>C) c.570G>C (p.Leu190=) c.354G>C (p.Leu118=) c.1533G>C (p.Leu511=) c.246G>C (p.Leu82=) c.254G>C n.202G>C c.2667G>C (p.Leu889=) c.2658G>C (p.Leu886=) c.2685G>C (p.Leu895=) c.2682G>C (p.Leu894=) c.2664G>C (p.Leu888=) c.2607G>C (p.Leu869=) c.2541G>C (p.Leu847=) c.1107G>C (p.Leu369=) c.459G>C (p.Leu153=) c.2520G>C (p.Leu840=) c.2655G>C (p.Leu885=) c.2661G>C (p.Leu887=) c.2577G>C (p.Leu859=) c.2505G>C (p.Leu835=) c.2439G>C (p.Leu813=) c.1800G>C (p.Leu600=) c.2418G>C (p.Leu806=) | |
9 | g.137800948G>T | CA467877650 | EHMT1 | c.2676G>T (p.Leu892=) c.2562G>T (p.Leu854=) c.2583G>T (p.Leu861=) c.2716G>T (n.2716G>T) c.570G>T (p.Leu190=) c.354G>T (p.Leu118=) c.1533G>T (p.Leu511=) c.246G>T (p.Leu82=) c.254G>T n.202G>T c.2667G>T (p.Leu889=) c.2658G>T (p.Leu886=) c.2685G>T (p.Leu895=) c.2682G>T (p.Leu894=) c.2664G>T (p.Leu888=) c.2607G>T (p.Leu869=) c.2541G>T (p.Leu847=) c.1107G>T (p.Leu369=) c.459G>T (p.Leu153=) c.2520G>T (p.Leu840=) c.2655G>T (p.Leu885=) c.2661G>T (p.Leu887=) c.2577G>T (p.Leu859=) c.2505G>T (p.Leu835=) c.2439G>T (p.Leu813=) c.1800G>T (p.Leu600=) c.2418G>T (p.Leu806=) | |
9 | g.137800949C>A | CA375788955 | EHMT1 | c.2677C>A (p.Leu893Met) c.2563C>A (p.Leu855Met) c.2584C>A (p.Leu862Met) c.2717C>A (n.2717C>A) c.571C>A (p.Leu191Met) c.355C>A (p.Leu119Met) c.1534C>A (p.Leu512Met) c.247C>A (p.Leu83Met) c.255C>A n.203C>A c.2668C>A (p.Leu890Met) c.2659C>A (p.Leu887Met) c.2686C>A (p.Leu896Met) c.2683C>A (p.Leu895Met) c.2665C>A (p.Leu889Met) c.2608C>A (p.Leu870Met) c.2542C>A (p.Leu848Met) c.1108C>A (p.Leu370Met) c.460C>A (p.Leu154Met) c.2521C>A (p.Leu841Met) c.2656C>A (p.Leu886Met) c.2662C>A (p.Leu888Met) c.2578C>A (p.Leu860Met) c.2506C>A (p.Leu836Met) c.2440C>A (p.Leu814Met) c.1801C>A (p.Leu601Met) c.2419C>A (p.Leu807Met) | |
9 | g.137800949C>G | CA375788957 | EHMT1 | c.2677C>G (p.Leu893Val) c.2563C>G (p.Leu855Val) c.2584C>G (p.Leu862Val) c.2717C>G (n.2717C>G) c.571C>G (p.Leu191Val) c.355C>G (p.Leu119Val) c.1534C>G (p.Leu512Val) c.247C>G (p.Leu83Val) c.255C>G n.203C>G c.2668C>G (p.Leu890Val) c.2659C>G (p.Leu887Val) c.2686C>G (p.Leu896Val) c.2683C>G (p.Leu895Val) c.2665C>G (p.Leu889Val) c.2608C>G (p.Leu870Val) c.2542C>G (p.Leu848Val) c.1108C>G (p.Leu370Val) c.460C>G (p.Leu154Val) c.2521C>G (p.Leu841Val) c.2656C>G (p.Leu886Val) c.2662C>G (p.Leu888Val) c.2578C>G (p.Leu860Val) c.2506C>G (p.Leu836Val) c.2440C>G (p.Leu814Val) c.1801C>G (p.Leu601Val) c.2419C>G (p.Leu807Val) | |
9 | g.137800949C>T | CA467877651 | EHMT1 | c.2677C>T (p.Leu893=) c.2563C>T (p.Leu855=) c.2584C>T (p.Leu862=) c.2717C>T (n.2717C>T) c.571C>T (p.Leu191=) c.355C>T (p.Leu119=) c.1534C>T (p.Leu512=) c.247C>T (p.Leu83=) c.255C>T n.203C>T c.2668C>T (p.Leu890=) c.2659C>T (p.Leu887=) c.2686C>T (p.Leu896=) c.2683C>T (p.Leu895=) c.2665C>T (p.Leu889=) c.2608C>T (p.Leu870=) c.2542C>T (p.Leu848=) c.1108C>T (p.Leu370=) c.460C>T (p.Leu154=) c.2521C>T (p.Leu841=) c.2656C>T (p.Leu886=) c.2662C>T (p.Leu888=) c.2578C>T (p.Leu860=) c.2506C>T (p.Leu836=) c.2440C>T (p.Leu814=) c.1801C>T (p.Leu601=) c.2419C>T (p.Leu807=) | gnomAD v4 |
9 | g.137800950T>A | CA375788959 | EHMT1 | c.2678T>A (p.Leu893Gln) c.2564T>A (p.Leu855Gln) c.2585T>A (p.Leu862Gln) c.2718T>A (n.2718T>A) c.572T>A (p.Leu191Gln) c.356T>A (p.Leu119Gln) c.1535T>A (p.Leu512Gln) c.248T>A (p.Leu83Gln) c.256T>A n.204T>A c.2669T>A (p.Leu890Gln) c.2660T>A (p.Leu887Gln) c.2687T>A (p.Leu896Gln) c.2684T>A (p.Leu895Gln) c.2666T>A (p.Leu889Gln) c.2609T>A (p.Leu870Gln) c.2543T>A (p.Leu848Gln) c.1109T>A (p.Leu370Gln) c.461T>A (p.Leu154Gln) c.2522T>A (p.Leu841Gln) c.2657T>A (p.Leu886Gln) c.2663T>A (p.Leu888Gln) c.2579T>A (p.Leu860Gln) c.2507T>A (p.Leu836Gln) c.2441T>A (p.Leu814Gln) c.1802T>A (p.Leu601Gln) c.2420T>A (p.Leu807Gln) | |
9 | g.137800950T>C | CA375788961 | EHMT1 | c.2678T>C (p.Leu893Pro) c.2564T>C (p.Leu855Pro) c.2585T>C (p.Leu862Pro) c.2718T>C (n.2718T>C) c.572T>C (p.Leu191Pro) c.356T>C (p.Leu119Pro) c.1535T>C (p.Leu512Pro) c.248T>C (p.Leu83Pro) c.256T>C n.204T>C c.2669T>C (p.Leu890Pro) c.2660T>C (p.Leu887Pro) c.2687T>C (p.Leu896Pro) c.2684T>C (p.Leu895Pro) c.2666T>C (p.Leu889Pro) c.2609T>C (p.Leu870Pro) c.2543T>C (p.Leu848Pro) c.1109T>C (p.Leu370Pro) c.461T>C (p.Leu154Pro) c.2522T>C (p.Leu841Pro) c.2657T>C (p.Leu886Pro) c.2663T>C (p.Leu888Pro) c.2579T>C (p.Leu860Pro) c.2507T>C (p.Leu836Pro) c.2441T>C (p.Leu814Pro) c.1802T>C (p.Leu601Pro) c.2420T>C (p.Leu807Pro) | |
9 | g.137800950T>G | CA375788958 | EHMT1 | c.2678T>G (p.Leu893Arg) c.2564T>G (p.Leu855Arg) c.2585T>G (p.Leu862Arg) c.2718T>G (n.2718T>G) c.572T>G (p.Leu191Arg) c.356T>G (p.Leu119Arg) c.1535T>G (p.Leu512Arg) c.248T>G (p.Leu83Arg) c.256T>G n.204T>G c.2669T>G (p.Leu890Arg) c.2660T>G (p.Leu887Arg) c.2687T>G (p.Leu896Arg) c.2684T>G (p.Leu895Arg) c.2666T>G (p.Leu889Arg) c.2609T>G (p.Leu870Arg) c.2543T>G (p.Leu848Arg) c.1109T>G (p.Leu370Arg) c.461T>G (p.Leu154Arg) c.2522T>G (p.Leu841Arg) c.2657T>G (p.Leu886Arg) c.2663T>G (p.Leu888Arg) c.2579T>G (p.Leu860Arg) c.2507T>G (p.Leu836Arg) c.2441T>G (p.Leu814Arg) c.1802T>G (p.Leu601Arg) c.2420T>G (p.Leu807Arg) | |
9 | g.137800951G>A | CA467877654 | EHMT1 | c.2679G>A (p.Leu893=) c.2565G>A (p.Leu855=) c.2586G>A (p.Leu862=) c.2719G>A (n.2719G>A) c.573G>A (p.Leu191=) c.357G>A (p.Leu119=) c.1536G>A (p.Leu512=) c.249G>A (p.Leu83=) c.257G>A n.205G>A c.2670G>A (p.Leu890=) c.2661G>A (p.Leu887=) c.2688G>A (p.Leu896=) c.2685G>A (p.Leu895=) c.2667G>A (p.Leu889=) c.2610G>A (p.Leu870=) c.2544G>A (p.Leu848=) c.1110G>A (p.Leu370=) c.462G>A (p.Leu154=) c.2523G>A (p.Leu841=) c.2658G>A (p.Leu886=) c.2664G>A (p.Leu888=) c.2580G>A (p.Leu860=) c.2508G>A (p.Leu836=) c.2442G>A (p.Leu814=) c.1803G>A (p.Leu601=) c.2421G>A (p.Leu807=) | |
9 | g.137800951G>C | CA467877656 | EHMT1 | c.2679G>C (p.Leu893=) c.2565G>C (p.Leu855=) c.2586G>C (p.Leu862=) c.2719G>C (n.2719G>C) c.573G>C (p.Leu191=) c.357G>C (p.Leu119=) c.1536G>C (p.Leu512=) c.249G>C (p.Leu83=) c.257G>C n.205G>C c.2670G>C (p.Leu890=) c.2661G>C (p.Leu887=) c.2688G>C (p.Leu896=) c.2685G>C (p.Leu895=) c.2667G>C (p.Leu889=) c.2610G>C (p.Leu870=) c.2544G>C (p.Leu848=) c.1110G>C (p.Leu370=) c.462G>C (p.Leu154=) c.2523G>C (p.Leu841=) c.2658G>C (p.Leu886=) c.2664G>C (p.Leu888=) c.2580G>C (p.Leu860=) c.2508G>C (p.Leu836=) c.2442G>C (p.Leu814=) c.1803G>C (p.Leu601=) c.2421G>C (p.Leu807=) | |
9 | g.137800951G>T | CA467877657 | EHMT1 | c.2679G>T (p.Leu893=) c.2565G>T (p.Leu855=) c.2586G>T (p.Leu862=) c.2719G>T (n.2719G>T) c.573G>T (p.Leu191=) c.357G>T (p.Leu119=) c.1536G>T (p.Leu512=) c.249G>T (p.Leu83=) c.257G>T n.205G>T c.2670G>T (p.Leu890=) c.2661G>T (p.Leu887=) c.2688G>T (p.Leu896=) c.2685G>T (p.Leu895=) c.2667G>T (p.Leu889=) c.2610G>T (p.Leu870=) c.2544G>T (p.Leu848=) c.1110G>T (p.Leu370=) c.462G>T (p.Leu154=) c.2523G>T (p.Leu841=) c.2658G>T (p.Leu886=) c.2664G>T (p.Leu888=) c.2580G>T (p.Leu860=) c.2508G>T (p.Leu836=) c.2442G>T (p.Leu814=) c.1803G>T (p.Leu601=) c.2421G>T (p.Leu807=) | |
9 | g.137800952T>A | CA375788962 | EHMT1 | c.2680T>A (p.Ser894Thr) c.2566T>A (p.Ser856Thr) c.2587T>A (p.Ser863Thr) c.2720T>A (n.2720T>A) c.574T>A (p.Ser192Thr) c.358T>A (p.Ser120Thr) c.1537T>A (p.Ser513Thr) c.250T>A (p.Ser84Thr) c.258T>A n.206T>A c.2671T>A (p.Ser891Thr) c.2662T>A (p.Ser888Thr) c.2689T>A (p.Ser897Thr) c.2686T>A (p.Ser896Thr) c.2668T>A (p.Ser890Thr) c.2611T>A (p.Ser871Thr) c.2545T>A (p.Ser849Thr) c.1111T>A (p.Ser371Thr) c.463T>A (p.Ser155Thr) c.2524T>A (p.Ser842Thr) c.2659T>A (p.Ser887Thr) c.2665T>A (p.Ser889Thr) c.2581T>A (p.Ser861Thr) c.2509T>A (p.Ser837Thr) c.2443T>A (p.Ser815Thr) c.1804T>A (p.Ser602Thr) c.2422T>A (p.Ser808Thr) | |
9 | g.137800952T>C | CA375788964 | EHMT1 | c.2680T>C (p.Ser894Pro) c.2566T>C (p.Ser856Pro) c.2587T>C (p.Ser863Pro) c.2720T>C (n.2720T>C) c.574T>C (p.Ser192Pro) c.358T>C (p.Ser120Pro) c.1537T>C (p.Ser513Pro) c.250T>C (p.Ser84Pro) c.258T>C n.206T>C c.2671T>C (p.Ser891Pro) c.2662T>C (p.Ser888Pro) c.2689T>C (p.Ser897Pro) c.2686T>C (p.Ser896Pro) c.2668T>C (p.Ser890Pro) c.2611T>C (p.Ser871Pro) c.2545T>C (p.Ser849Pro) c.1111T>C (p.Ser371Pro) c.463T>C (p.Ser155Pro) c.2524T>C (p.Ser842Pro) c.2659T>C (p.Ser887Pro) c.2665T>C (p.Ser889Pro) c.2581T>C (p.Ser861Pro) c.2509T>C (p.Ser837Pro) c.2443T>C (p.Ser815Pro) c.1804T>C (p.Ser602Pro) c.2422T>C (p.Ser808Pro) | |
9 | g.137800952T>G | CA375788965 | EHMT1 | c.2680T>G (p.Ser894Ala) c.2566T>G (p.Ser856Ala) c.2587T>G (p.Ser863Ala) c.2720T>G (n.2720T>G) c.574T>G (p.Ser192Ala) c.358T>G (p.Ser120Ala) c.1537T>G (p.Ser513Ala) c.250T>G (p.Ser84Ala) c.258T>G n.206T>G c.2671T>G (p.Ser891Ala) c.2662T>G (p.Ser888Ala) c.2689T>G (p.Ser897Ala) c.2686T>G (p.Ser896Ala) c.2668T>G (p.Ser890Ala) c.2611T>G (p.Ser871Ala) c.2545T>G (p.Ser849Ala) c.1111T>G (p.Ser371Ala) c.463T>G (p.Ser155Ala) c.2524T>G (p.Ser842Ala) c.2659T>G (p.Ser887Ala) c.2665T>G (p.Ser889Ala) c.2581T>G (p.Ser861Ala) c.2509T>G (p.Ser837Ala) c.2443T>G (p.Ser815Ala) c.1804T>G (p.Ser602Ala) c.2422T>G (p.Ser808Ala) | |
9 | g.137800953C>A | CA375788967 | EHMT1 | c.2681C>A (p.Ser894Tyr) c.2567C>A (p.Ser856Tyr) c.2588C>A (p.Ser863Tyr) c.2721C>A (n.2721C>A) c.575C>A (p.Ser192Tyr) c.359C>A (p.Ser120Tyr) c.1538C>A (p.Ser513Tyr) c.251C>A (p.Ser84Tyr) c.259C>A n.207C>A c.2672C>A (p.Ser891Tyr) c.2663C>A (p.Ser888Tyr) c.2690C>A (p.Ser897Tyr) c.2687C>A (p.Ser896Tyr) c.2669C>A (p.Ser890Tyr) c.2612C>A (p.Ser871Tyr) c.2546C>A (p.Ser849Tyr) c.1112C>A (p.Ser371Tyr) c.464C>A (p.Ser155Tyr) c.2525C>A (p.Ser842Tyr) c.2660C>A (p.Ser887Tyr) c.2666C>A (p.Ser889Tyr) c.2582C>A (p.Ser861Tyr) c.2510C>A (p.Ser837Tyr) c.2444C>A (p.Ser815Tyr) c.1805C>A (p.Ser602Tyr) c.2423C>A (p.Ser808Tyr) | |
9 | g.137800953C>G | CA375788969 | EHMT1 | c.2681C>G (p.Ser894Cys) c.2567C>G (p.Ser856Cys) c.2588C>G (p.Ser863Cys) c.2721C>G (n.2721C>G) c.575C>G (p.Ser192Cys) c.359C>G (p.Ser120Cys) c.1538C>G (p.Ser513Cys) c.251C>G (p.Ser84Cys) c.259C>G n.207C>G c.2672C>G (p.Ser891Cys) c.2663C>G (p.Ser888Cys) c.2690C>G (p.Ser897Cys) c.2687C>G (p.Ser896Cys) c.2669C>G (p.Ser890Cys) c.2612C>G (p.Ser871Cys) c.2546C>G (p.Ser849Cys) c.1112C>G (p.Ser371Cys) c.464C>G (p.Ser155Cys) c.2525C>G (p.Ser842Cys) c.2660C>G (p.Ser887Cys) c.2666C>G (p.Ser889Cys) c.2582C>G (p.Ser861Cys) c.2510C>G (p.Ser837Cys) c.2444C>G (p.Ser815Cys) c.1805C>G (p.Ser602Cys) c.2423C>G (p.Ser808Cys) | |
9 | g.137800953C>T | CA375788970 | EHMT1 | c.2681C>T (p.Ser894Phe) c.2567C>T (p.Ser856Phe) c.2588C>T (p.Ser863Phe) c.2721C>T (n.2721C>T) c.575C>T (p.Ser192Phe) c.359C>T (p.Ser120Phe) c.1538C>T (p.Ser513Phe) c.251C>T (p.Ser84Phe) c.259C>T n.207C>T c.2672C>T (p.Ser891Phe) c.2663C>T (p.Ser888Phe) c.2690C>T (p.Ser897Phe) c.2687C>T (p.Ser896Phe) c.2669C>T (p.Ser890Phe) c.2612C>T (p.Ser871Phe) c.2546C>T (p.Ser849Phe) c.1112C>T (p.Ser371Phe) c.464C>T (p.Ser155Phe) c.2525C>T (p.Ser842Phe) c.2660C>T (p.Ser887Phe) c.2666C>T (p.Ser889Phe) c.2582C>T (p.Ser861Phe) c.2510C>T (p.Ser837Phe) c.2444C>T (p.Ser815Phe) c.1805C>T (p.Ser602Phe) c.2423C>T (p.Ser808Phe) | |
9 | g.137800954C>A | CA467877660 | EHMT1 | c.2682C>A (p.Ser894=) c.2568C>A (p.Ser856=) c.2589C>A (p.Ser863=) c.2722C>A (n.2722C>A) c.576C>A (p.Ser192=) c.360C>A (p.Ser120=) c.1539C>A (p.Ser513=) c.252C>A (p.Ser84=) c.260C>A n.208C>A c.2673C>A (p.Ser891=) c.2664C>A (p.Ser888=) c.2691C>A (p.Ser897=) c.2688C>A (p.Ser896=) c.2670C>A (p.Ser890=) c.2613C>A (p.Ser871=) c.2547C>A (p.Ser849=) c.1113C>A (p.Ser371=) c.465C>A (p.Ser155=) c.2526C>A (p.Ser842=) c.2661C>A (p.Ser887=) c.2667C>A (p.Ser889=) c.2583C>A (p.Ser861=) c.2511C>A (p.Ser837=) c.2445C>A (p.Ser815=) c.1806C>A (p.Ser602=) c.2424C>A (p.Ser808=) | |
9 | g.137800954C= | CA1884679283 | EHMT1 | c.2682C= (p.Ser894=) c.2568C= (p.Ser856=) c.2589C= (p.Ser863=) c.2722C= (n.2722C=) c.576C= (p.Ser192=) c.360C= (p.Ser120=) c.1539C= (p.Ser513=) c.252C= (p.Ser84=) c.260C= n.208C= c.2673C= (p.Ser891=) c.2664C= (p.Ser888=) c.2691C= (p.Ser897=) c.2688C= (p.Ser896=) c.2670C= (p.Ser890=) c.2613C= (p.Ser871=) c.2547C= (p.Ser849=) c.1113C= (p.Ser371=) c.465C= (p.Ser155=) c.2526C= (p.Ser842=) c.2661C= (p.Ser887=) c.2667C= (p.Ser889=) c.2583C= (p.Ser861=) c.2511C= (p.Ser837=) c.2445C= (p.Ser815=) c.1806C= (p.Ser602=) c.2424C= (p.Ser808=) | |
9 | g.137800954C>G | CA467877658 | EHMT1 | c.2682C>G (p.Ser894=) c.2568C>G (p.Ser856=) c.2589C>G (p.Ser863=) c.2722C>G (n.2722C>G) c.576C>G (p.Ser192=) c.360C>G (p.Ser120=) c.1539C>G (p.Ser513=) c.252C>G (p.Ser84=) c.260C>G n.208C>G c.2673C>G (p.Ser891=) c.2664C>G (p.Ser888=) c.2691C>G (p.Ser897=) c.2688C>G (p.Ser896=) c.2670C>G (p.Ser890=) c.2613C>G (p.Ser871=) c.2547C>G (p.Ser849=) c.1113C>G (p.Ser371=) c.465C>G (p.Ser155=) c.2526C>G (p.Ser842=) c.2661C>G (p.Ser887=) c.2667C>G (p.Ser889=) c.2583C>G (p.Ser861=) c.2511C>G (p.Ser837=) c.2445C>G (p.Ser815=) c.1806C>G (p.Ser602=) c.2424C>G (p.Ser808=) | |
9 | g.137800954C>T | CA467877659 | EHMT1 | c.2682C>T (p.Ser894=) c.2568C>T (p.Ser856=) c.2589C>T (p.Ser863=) c.2722C>T (n.2722C>T) c.576C>T (p.Ser192=) c.360C>T (p.Ser120=) c.1539C>T (p.Ser513=) c.252C>T (p.Ser84=) c.260C>T n.208C>T c.2673C>T (p.Ser891=) c.2664C>T (p.Ser888=) c.2691C>T (p.Ser897=) c.2688C>T (p.Ser896=) c.2670C>T (p.Ser890=) c.2613C>T (p.Ser871=) c.2547C>T (p.Ser849=) c.1113C>T (p.Ser371=) c.465C>T (p.Ser155=) c.2526C>T (p.Ser842=) c.2661C>T (p.Ser887=) c.2667C>T (p.Ser889=) c.2583C>T (p.Ser861=) c.2511C>T (p.Ser837=) c.2445C>T (p.Ser815=) c.1806C>T (p.Ser602=) c.2424C>T (p.Ser808=) | dbSNP |
9 | g.137800955A= | CA1884679284 | EHMT1 | c.2683A= (p.Lys895=) c.2569A= (p.Lys857=) c.2590A= (p.Lys864=) c.2723A= (n.2723A=) c.577A= (p.Lys193=) c.361A= (p.Lys121=) c.1540A= (p.Lys514=) c.253A= (p.Lys85=) c.261A= n.209A= c.2674A= (p.Lys892=) c.2665A= (p.Lys889=) c.2692A= (p.Lys898=) c.2689A= (p.Lys897=) c.2671A= (p.Lys891=) c.2614A= (p.Lys872=) c.2548A= (p.Lys850=) c.1114A= (p.Lys372=) c.466A= (p.Lys156=) c.2527A= (p.Lys843=) c.2662A= (p.Lys888=) c.2668A= (p.Lys890=) c.2584A= (p.Lys862=) c.2512A= (p.Lys838=) c.2446A= (p.Lys816=) c.1807A= (p.Lys603=) c.2425A= (p.Lys809=) | |
9 | g.137800955A>C | CA375788974 | EHMT1 | c.2683A>C (p.Lys895Gln) c.2569A>C (p.Lys857Gln) c.2590A>C (p.Lys864Gln) c.2723A>C (n.2723A>C) c.577A>C (p.Lys193Gln) c.361A>C (p.Lys121Gln) c.1540A>C (p.Lys514Gln) c.253A>C (p.Lys85Gln) c.261A>C n.209A>C c.2674A>C (p.Lys892Gln) c.2665A>C (p.Lys889Gln) c.2692A>C (p.Lys898Gln) c.2689A>C (p.Lys897Gln) c.2671A>C (p.Lys891Gln) c.2614A>C (p.Lys872Gln) c.2548A>C (p.Lys850Gln) c.1114A>C (p.Lys372Gln) c.466A>C (p.Lys156Gln) c.2527A>C (p.Lys843Gln) c.2662A>C (p.Lys888Gln) c.2668A>C (p.Lys890Gln) c.2584A>C (p.Lys862Gln) c.2512A>C (p.Lys838Gln) c.2446A>C (p.Lys816Gln) c.1807A>C (p.Lys603Gln) c.2425A>C (p.Lys809Gln) | |
9 | g.137800955A>G | CA375788972 | EHMT1 | c.2683A>G (p.Lys895Glu) c.2569A>G (p.Lys857Glu) c.2590A>G (p.Lys864Glu) c.2723A>G (n.2723A>G) c.577A>G (p.Lys193Glu) c.361A>G (p.Lys121Glu) c.1540A>G (p.Lys514Glu) c.253A>G (p.Lys85Glu) c.261A>G n.209A>G c.2674A>G (p.Lys892Glu) c.2665A>G (p.Lys889Glu) c.2692A>G (p.Lys898Glu) c.2689A>G (p.Lys897Glu) c.2671A>G (p.Lys891Glu) c.2614A>G (p.Lys872Glu) c.2548A>G (p.Lys850Glu) c.1114A>G (p.Lys372Glu) c.466A>G (p.Lys156Glu) c.2527A>G (p.Lys843Glu) c.2662A>G (p.Lys888Glu) c.2668A>G (p.Lys890Glu) c.2584A>G (p.Lys862Glu) c.2512A>G (p.Lys838Glu) c.2446A>G (p.Lys816Glu) c.1807A>G (p.Lys603Glu) c.2425A>G (p.Lys809Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.137800955A>T | CA375788973 | EHMT1 | c.2683A>T (p.Lys895Ter) c.2569A>T (p.Lys857Ter) c.2590A>T (p.Lys864Ter) c.2723A>T (n.2723A>T) c.577A>T (p.Lys193Ter) c.361A>T (p.Lys121Ter) c.1540A>T (p.Lys514Ter) c.253A>T (p.Lys85Ter) c.261A>T n.209A>T c.2674A>T (p.Lys892Ter) c.2665A>T (p.Lys889Ter) c.2692A>T (p.Lys898Ter) c.2689A>T (p.Lys897Ter) c.2671A>T (p.Lys891Ter) c.2614A>T (p.Lys872Ter) c.2548A>T (p.Lys850Ter) c.1114A>T (p.Lys372Ter) c.466A>T (p.Lys156Ter) c.2527A>T (p.Lys843Ter) c.2662A>T (p.Lys888Ter) c.2668A>T (p.Lys890Ter) c.2584A>T (p.Lys862Ter) c.2512A>T (p.Lys838Ter) c.2446A>T (p.Lys816Ter) c.1807A>T (p.Lys603Ter) c.2425A>T (p.Lys809Ter) | |
9 | g.137800956A>C | CA375788976 | EHMT1 | c.2684A>C (p.Lys895Thr) c.2570A>C (p.Lys857Thr) c.2591A>C (p.Lys864Thr) c.2724A>C (n.2724A>C) c.578A>C (p.Lys193Thr) c.362A>C (p.Lys121Thr) c.1541A>C (p.Lys514Thr) c.254A>C (p.Lys85Thr) c.262A>C n.210A>C c.2675A>C (p.Lys892Thr) c.2666A>C (p.Lys889Thr) c.2693A>C (p.Lys898Thr) c.2690A>C (p.Lys897Thr) c.2672A>C (p.Lys891Thr) c.2615A>C (p.Lys872Thr) c.2549A>C (p.Lys850Thr) c.1115A>C (p.Lys372Thr) c.467A>C (p.Lys156Thr) c.2528A>C (p.Lys843Thr) c.2663A>C (p.Lys888Thr) c.2669A>C (p.Lys890Thr) c.2585A>C (p.Lys862Thr) c.2513A>C (p.Lys838Thr) c.2447A>C (p.Lys816Thr) c.1808A>C (p.Lys603Thr) c.2426A>C (p.Lys809Thr) | |
9 | g.137800956A>G | CA375788977 | EHMT1 | c.2684A>G (p.Lys895Arg) c.2570A>G (p.Lys857Arg) c.2591A>G (p.Lys864Arg) c.2724A>G (n.2724A>G) c.578A>G (p.Lys193Arg) c.362A>G (p.Lys121Arg) c.1541A>G (p.Lys514Arg) c.254A>G (p.Lys85Arg) c.262A>G n.210A>G c.2675A>G (p.Lys892Arg) c.2666A>G (p.Lys889Arg) c.2693A>G (p.Lys898Arg) c.2690A>G (p.Lys897Arg) c.2672A>G (p.Lys891Arg) c.2615A>G (p.Lys872Arg) c.2549A>G (p.Lys850Arg) c.1115A>G (p.Lys372Arg) c.467A>G (p.Lys156Arg) c.2528A>G (p.Lys843Arg) c.2663A>G (p.Lys888Arg) c.2669A>G (p.Lys890Arg) c.2585A>G (p.Lys862Arg) c.2513A>G (p.Lys838Arg) c.2447A>G (p.Lys816Arg) c.1808A>G (p.Lys603Arg) c.2426A>G (p.Lys809Arg) | gnomAD v4 |
9 | g.137800956A>T | CA375788978 | EHMT1 | c.2684A>T (p.Lys895Met) c.2570A>T (p.Lys857Met) c.2591A>T (p.Lys864Met) c.2724A>T (n.2724A>T) c.578A>T (p.Lys193Met) c.362A>T (p.Lys121Met) c.1541A>T (p.Lys514Met) c.254A>T (p.Lys85Met) c.262A>T n.210A>T c.2675A>T (p.Lys892Met) c.2666A>T (p.Lys889Met) c.2693A>T (p.Lys898Met) c.2690A>T (p.Lys897Met) c.2672A>T (p.Lys891Met) c.2615A>T (p.Lys872Met) c.2549A>T (p.Lys850Met) c.1115A>T (p.Lys372Met) c.467A>T (p.Lys156Met) c.2528A>T (p.Lys843Met) c.2663A>T (p.Lys888Met) c.2669A>T (p.Lys890Met) c.2585A>T (p.Lys862Met) c.2513A>T (p.Lys838Met) c.2447A>T (p.Lys816Met) c.1808A>T (p.Lys603Met) c.2426A>T (p.Lys809Met) | |
9 | g.137800957G>A | CA467877661 | EHMT1 | c.2685G>A (p.Lys895=) c.2571G>A (p.Lys857=) c.2592G>A (p.Lys864=) c.2725G>A (n.2725G>A) c.579G>A (p.Lys193=) c.363G>A (p.Lys121=) c.1542G>A (p.Lys514=) c.255G>A (p.Lys85=) c.263G>A n.211G>A c.2676G>A (p.Lys892=) c.2667G>A (p.Lys889=) c.2694G>A (p.Lys898=) c.2691G>A (p.Lys897=) c.2673G>A (p.Lys891=) c.2616G>A (p.Lys872=) c.2550G>A (p.Lys850=) c.1116G>A (p.Lys372=) c.468G>A (p.Lys156=) c.2529G>A (p.Lys843=) c.2664G>A (p.Lys888=) c.2670G>A (p.Lys890=) c.2586G>A (p.Lys862=) c.2514G>A (p.Lys838=) c.2448G>A (p.Lys816=) c.1809G>A (p.Lys603=) c.2427G>A (p.Lys809=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.137800957G>C | CA375788980 | EHMT1 | c.2685G>C (p.Lys895Asn) c.2571G>C (p.Lys857Asn) c.2592G>C (p.Lys864Asn) c.2725G>C (n.2725G>C) c.579G>C (p.Lys193Asn) c.363G>C (p.Lys121Asn) c.1542G>C (p.Lys514Asn) c.255G>C (p.Lys85Asn) c.263G>C n.211G>C c.2676G>C (p.Lys892Asn) c.2667G>C (p.Lys889Asn) c.2694G>C (p.Lys898Asn) c.2691G>C (p.Lys897Asn) c.2673G>C (p.Lys891Asn) c.2616G>C (p.Lys872Asn) c.2550G>C (p.Lys850Asn) c.1116G>C (p.Lys372Asn) c.468G>C (p.Lys156Asn) c.2529G>C (p.Lys843Asn) c.2664G>C (p.Lys888Asn) c.2670G>C (p.Lys890Asn) c.2586G>C (p.Lys862Asn) c.2514G>C (p.Lys838Asn) c.2448G>C (p.Lys816Asn) c.1809G>C (p.Lys603Asn) c.2427G>C (p.Lys809Asn) | dbSNP |
9 | g.137800957G= | CA1884679285 | EHMT1 | c.2685G= (p.Lys895=) c.2571G= (p.Lys857=) c.2592G= (p.Lys864=) c.2725G= (n.2725G=) c.579G= (p.Lys193=) c.363G= (p.Lys121=) c.1542G= (p.Lys514=) c.255G= (p.Lys85=) c.263G= n.211G= c.2676G= (p.Lys892=) c.2667G= (p.Lys889=) c.2694G= (p.Lys898=) c.2691G= (p.Lys897=) c.2673G= (p.Lys891=) c.2616G= (p.Lys872=) c.2550G= (p.Lys850=) c.1116G= (p.Lys372=) c.468G= (p.Lys156=) c.2529G= (p.Lys843=) c.2664G= (p.Lys888=) c.2670G= (p.Lys890=) c.2586G= (p.Lys862=) c.2514G= (p.Lys838=) c.2448G= (p.Lys816=) c.1809G= (p.Lys603=) c.2427G= (p.Lys809=) | |
9 | g.137800957G>T | CA375788982 | EHMT1 | c.2685G>T (p.Lys895Asn) c.2571G>T (p.Lys857Asn) c.2592G>T (p.Lys864Asn) c.2725G>T (n.2725G>T) c.579G>T (p.Lys193Asn) c.363G>T (p.Lys121Asn) c.1542G>T (p.Lys514Asn) c.255G>T (p.Lys85Asn) c.263G>T n.211G>T c.2676G>T (p.Lys892Asn) c.2667G>T (p.Lys889Asn) c.2694G>T (p.Lys898Asn) c.2691G>T (p.Lys897Asn) c.2673G>T (p.Lys891Asn) c.2616G>T (p.Lys872Asn) c.2550G>T (p.Lys850Asn) c.1116G>T (p.Lys372Asn) c.468G>T (p.Lys156Asn) c.2529G>T (p.Lys843Asn) c.2664G>T (p.Lys888Asn) c.2670G>T (p.Lys890Asn) c.2586G>T (p.Lys862Asn) c.2514G>T (p.Lys838Asn) c.2448G>T (p.Lys816Asn) c.1809G>T (p.Lys603Asn) c.2427G>T (p.Lys809Asn) | |
9 | g.137800958G>A | CA375788983 | EHMT1 | c.2686G>A (p.Gly896Ser) c.2572G>A (p.Gly858Ser) c.2593G>A (p.Gly865Ser) c.2726G>A (n.2726G>A) c.580G>A (p.Gly194Ser) c.364G>A (p.Gly122Ser) c.1543G>A (p.Gly515Ser) c.256G>A (p.Gly86Ser) c.264G>A n.212G>A c.2677G>A (p.Gly893Ser) c.2668G>A (p.Gly890Ser) c.2695G>A (p.Gly899Ser) c.2692G>A (p.Gly898Ser) c.2674G>A (p.Gly892Ser) c.2617G>A (p.Gly873Ser) c.2551G>A (p.Gly851Ser) c.1117G>A (p.Gly373Ser) c.469G>A (p.Gly157Ser) c.2530G>A (p.Gly844Ser) c.2665G>A (p.Gly889Ser) c.2671G>A (p.Gly891Ser) c.2587G>A (p.Gly863Ser) c.2515G>A (p.Gly839Ser) c.2449G>A (p.Gly817Ser) c.1810G>A (p.Gly604Ser) c.2428G>A (p.Gly810Ser) | dbSNP |
9 | g.137800958G>C | CA375788987 | EHMT1 | c.2686G>C (p.Gly896Arg) c.2572G>C (p.Gly858Arg) c.2593G>C (p.Gly865Arg) c.2726G>C (n.2726G>C) c.580G>C (p.Gly194Arg) c.364G>C (p.Gly122Arg) c.1543G>C (p.Gly515Arg) c.256G>C (p.Gly86Arg) c.264G>C n.212G>C c.2677G>C (p.Gly893Arg) c.2668G>C (p.Gly890Arg) c.2695G>C (p.Gly899Arg) c.2692G>C (p.Gly898Arg) c.2674G>C (p.Gly892Arg) c.2617G>C (p.Gly873Arg) c.2551G>C (p.Gly851Arg) c.1117G>C (p.Gly373Arg) c.469G>C (p.Gly157Arg) c.2530G>C (p.Gly844Arg) c.2665G>C (p.Gly889Arg) c.2671G>C (p.Gly891Arg) c.2587G>C (p.Gly863Arg) c.2515G>C (p.Gly839Arg) c.2449G>C (p.Gly817Arg) c.1810G>C (p.Gly604Arg) c.2428G>C (p.Gly810Arg) | |
9 | g.137800958G= | CA1884679286 | EHMT1 | c.2686G= (p.Gly896=) c.2572G= (p.Gly858=) c.2593G= (p.Gly865=) c.2726G= (n.2726G=) c.580G= (p.Gly194=) c.364G= (p.Gly122=) c.1543G= (p.Gly515=) c.256G= (p.Gly86=) c.264G= n.212G= c.2677G= (p.Gly893=) c.2668G= (p.Gly890=) c.2695G= (p.Gly899=) c.2692G= (p.Gly898=) c.2674G= (p.Gly892=) c.2617G= (p.Gly873=) c.2551G= (p.Gly851=) c.1117G= (p.Gly373=) c.469G= (p.Gly157=) c.2530G= (p.Gly844=) c.2665G= (p.Gly889=) c.2671G= (p.Gly891=) c.2587G= (p.Gly863=) c.2515G= (p.Gly839=) c.2449G= (p.Gly817=) c.1810G= (p.Gly604=) c.2428G= (p.Gly810=) | |
9 | g.137800958G>T | CA375788985 | EHMT1 | c.2686G>T (p.Gly896Cys) c.2572G>T (p.Gly858Cys) c.2593G>T (p.Gly865Cys) c.2726G>T (n.2726G>T) c.580G>T (p.Gly194Cys) c.364G>T (p.Gly122Cys) c.1543G>T (p.Gly515Cys) c.256G>T (p.Gly86Cys) c.264G>T n.212G>T c.2677G>T (p.Gly893Cys) c.2668G>T (p.Gly890Cys) c.2695G>T (p.Gly899Cys) c.2692G>T (p.Gly898Cys) c.2674G>T (p.Gly892Cys) c.2617G>T (p.Gly873Cys) c.2551G>T (p.Gly851Cys) c.1117G>T (p.Gly373Cys) c.469G>T (p.Gly157Cys) c.2530G>T (p.Gly844Cys) c.2665G>T (p.Gly889Cys) c.2671G>T (p.Gly891Cys) c.2587G>T (p.Gly863Cys) c.2515G>T (p.Gly839Cys) c.2449G>T (p.Gly817Cys) c.1810G>T (p.Gly604Cys) c.2428G>T (p.Gly810Cys) | |
9 | g.137800959G>A | CA375788988 | EHMT1 | c.2687G>A (p.Gly896Asp) c.2573G>A (p.Gly858Asp) c.2594G>A (p.Gly865Asp) c.2727G>A (n.2727G>A) c.581G>A (p.Gly194Asp) c.365G>A (p.Gly122Asp) c.1544G>A (p.Gly515Asp) c.257G>A (p.Gly86Asp) c.265G>A n.213G>A c.2678G>A (p.Gly893Asp) c.2669G>A (p.Gly890Asp) c.2696G>A (p.Gly899Asp) c.2693G>A (p.Gly898Asp) c.2675G>A (p.Gly892Asp) c.2618G>A (p.Gly873Asp) c.2552G>A (p.Gly851Asp) c.1118G>A (p.Gly373Asp) c.470G>A (p.Gly157Asp) c.2531G>A (p.Gly844Asp) c.2666G>A (p.Gly889Asp) c.2672G>A (p.Gly891Asp) c.2588G>A (p.Gly863Asp) c.2516G>A (p.Gly839Asp) c.2450G>A (p.Gly817Asp) c.1811G>A (p.Gly604Asp) c.2429G>A (p.Gly810Asp) | ClinVar dbSNP gnomAD v4 |
9 | g.137800959G>C | CA375788990 | EHMT1 | c.2687G>C (p.Gly896Ala) c.2573G>C (p.Gly858Ala) c.2594G>C (p.Gly865Ala) c.2727G>C (n.2727G>C) c.581G>C (p.Gly194Ala) c.365G>C (p.Gly122Ala) c.1544G>C (p.Gly515Ala) c.257G>C (p.Gly86Ala) c.265G>C n.213G>C c.2678G>C (p.Gly893Ala) c.2669G>C (p.Gly890Ala) c.2696G>C (p.Gly899Ala) c.2693G>C (p.Gly898Ala) c.2675G>C (p.Gly892Ala) c.2618G>C (p.Gly873Ala) c.2552G>C (p.Gly851Ala) c.1118G>C (p.Gly373Ala) c.470G>C (p.Gly157Ala) c.2531G>C (p.Gly844Ala) c.2666G>C (p.Gly889Ala) c.2672G>C (p.Gly891Ala) c.2588G>C (p.Gly863Ala) c.2516G>C (p.Gly839Ala) c.2450G>C (p.Gly817Ala) c.1811G>C (p.Gly604Ala) c.2429G>C (p.Gly810Ala) | |
9 | g.137800959G= | CA1884679287 | EHMT1 | c.2687G= (p.Gly896=) c.2573G= (p.Gly858=) c.2594G= (p.Gly865=) c.2727G= (n.2727G=) c.581G= (p.Gly194=) c.365G= (p.Gly122=) c.1544G= (p.Gly515=) c.257G= (p.Gly86=) c.265G= n.213G= c.2678G= (p.Gly893=) c.2669G= (p.Gly890=) c.2696G= (p.Gly899=) c.2693G= (p.Gly898=) c.2675G= (p.Gly892=) c.2618G= (p.Gly873=) c.2552G= (p.Gly851=) c.1118G= (p.Gly373=) c.470G= (p.Gly157=) c.2531G= (p.Gly844=) c.2666G= (p.Gly889=) c.2672G= (p.Gly891=) c.2588G= (p.Gly863=) c.2516G= (p.Gly839=) c.2450G= (p.Gly817=) c.1811G= (p.Gly604=) c.2429G= (p.Gly810=) | |
9 | g.137800959G>T | CA375788991 | EHMT1 | c.2687G>T (p.Gly896Val) c.2573G>T (p.Gly858Val) c.2594G>T (p.Gly865Val) c.2727G>T (n.2727G>T) c.581G>T (p.Gly194Val) c.365G>T (p.Gly122Val) c.1544G>T (p.Gly515Val) c.257G>T (p.Gly86Val) c.265G>T n.213G>T c.2678G>T (p.Gly893Val) c.2669G>T (p.Gly890Val) c.2696G>T (p.Gly899Val) c.2693G>T (p.Gly898Val) c.2675G>T (p.Gly892Val) c.2618G>T (p.Gly873Val) c.2552G>T (p.Gly851Val) c.1118G>T (p.Gly373Val) c.470G>T (p.Gly157Val) c.2531G>T (p.Gly844Val) c.2666G>T (p.Gly889Val) c.2672G>T (p.Gly891Val) c.2588G>T (p.Gly863Val) c.2516G>T (p.Gly839Val) c.2450G>T (p.Gly817Val) c.1811G>T (p.Gly604Val) c.2429G>T (p.Gly810Val) | |
9 | g.137800960C>A | CA467877662 | EHMT1 | c.2688C>A (p.Gly896=) c.2574C>A (p.Gly858=) c.2595C>A (p.Gly865=) c.2728C>A (n.2728C>A) c.582C>A (p.Gly194=) c.366C>A (p.Gly122=) c.1545C>A (p.Gly515=) c.258C>A (p.Gly86=) c.266C>A n.214C>A c.2679C>A (p.Gly893=) c.2670C>A (p.Gly890=) c.2697C>A (p.Gly899=) c.2694C>A (p.Gly898=) c.2676C>A (p.Gly892=) c.2619C>A (p.Gly873=) c.2553C>A (p.Gly851=) c.1119C>A (p.Gly373=) c.471C>A (p.Gly157=) c.2532C>A (p.Gly844=) c.2667C>A (p.Gly889=) c.2673C>A (p.Gly891=) c.2589C>A (p.Gly863=) c.2517C>A (p.Gly839=) c.2451C>A (p.Gly817=) c.1812C>A (p.Gly604=) c.2430C>A (p.Gly810=) | |
9 | g.137800960C= | CA1884679288 | EHMT1 | c.2688C= (p.Gly896=) c.2574C= (p.Gly858=) c.2595C= (p.Gly865=) c.2728C= (n.2728C=) c.582C= (p.Gly194=) c.366C= (p.Gly122=) c.1545C= (p.Gly515=) c.258C= (p.Gly86=) c.266C= n.214C= c.2679C= (p.Gly893=) c.2670C= (p.Gly890=) c.2697C= (p.Gly899=) c.2694C= (p.Gly898=) c.2676C= (p.Gly892=) c.2619C= (p.Gly873=) c.2553C= (p.Gly851=) c.1119C= (p.Gly373=) c.471C= (p.Gly157=) c.2532C= (p.Gly844=) c.2667C= (p.Gly889=) c.2673C= (p.Gly891=) c.2589C= (p.Gly863=) c.2517C= (p.Gly839=) c.2451C= (p.Gly817=) c.1812C= (p.Gly604=) c.2430C= (p.Gly810=) | |
9 | g.137800960C>G | CA467877663 | EHMT1 | c.2688C>G (p.Gly896=) c.2574C>G (p.Gly858=) c.2595C>G (p.Gly865=) c.2728C>G (n.2728C>G) c.582C>G (p.Gly194=) c.366C>G (p.Gly122=) c.1545C>G (p.Gly515=) c.258C>G (p.Gly86=) c.266C>G n.214C>G c.2679C>G (p.Gly893=) c.2670C>G (p.Gly890=) c.2697C>G (p.Gly899=) c.2694C>G (p.Gly898=) c.2676C>G (p.Gly892=) c.2619C>G (p.Gly873=) c.2553C>G (p.Gly851=) c.1119C>G (p.Gly373=) c.471C>G (p.Gly157=) c.2532C>G (p.Gly844=) c.2667C>G (p.Gly889=) c.2673C>G (p.Gly891=) c.2589C>G (p.Gly863=) c.2517C>G (p.Gly839=) c.2451C>G (p.Gly817=) c.1812C>G (p.Gly604=) c.2430C>G (p.Gly810=) | |
9 | g.137800960C>T | CA467877664 | EHMT1 | c.2688C>T (p.Gly896=) c.2574C>T (p.Gly858=) c.2595C>T (p.Gly865=) c.2728C>T (n.2728C>T) c.582C>T (p.Gly194=) c.366C>T (p.Gly122=) c.1545C>T (p.Gly515=) c.258C>T (p.Gly86=) c.266C>T n.214C>T c.2679C>T (p.Gly893=) c.2670C>T (p.Gly890=) c.2697C>T (p.Gly899=) c.2694C>T (p.Gly898=) c.2676C>T (p.Gly892=) c.2619C>T (p.Gly873=) c.2553C>T (p.Gly851=) c.1119C>T (p.Gly373=) c.471C>T (p.Gly157=) c.2532C>T (p.Gly844=) c.2667C>T (p.Gly889=) c.2673C>T (p.Gly891=) c.2589C>T (p.Gly863=) c.2517C>T (p.Gly839=) c.2451C>T (p.Gly817=) c.1812C>T (p.Gly604=) c.2430C>T (p.Gly810=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137800961T>A | CA375788993 | EHMT1 | c.2689T>A (p.Ser897Thr) c.2575T>A (p.Ser859Thr) c.2596T>A (p.Ser866Thr) c.2729T>A (n.2729T>A) c.583T>A (p.Ser195Thr) c.367T>A (p.Ser123Thr) c.1546T>A (p.Ser516Thr) c.259T>A (p.Ser87Thr) c.267T>A n.215T>A c.2680T>A (p.Ser894Thr) c.2671T>A (p.Ser891Thr) c.2698T>A (p.Ser900Thr) c.2695T>A (p.Ser899Thr) c.2677T>A (p.Ser893Thr) c.2620T>A (p.Ser874Thr) c.2554T>A (p.Ser852Thr) c.1120T>A (p.Ser374Thr) c.472T>A (p.Ser158Thr) c.2533T>A (p.Ser845Thr) c.2668T>A (p.Ser890Thr) c.2674T>A (p.Ser892Thr) c.2590T>A (p.Ser864Thr) c.2518T>A (p.Ser840Thr) c.2452T>A (p.Ser818Thr) c.1813T>A (p.Ser605Thr) c.2431T>A (p.Ser811Thr) | |
9 | g.137800961T>C | CA375788994 | EHMT1 | c.2689T>C (p.Ser897Pro) c.2575T>C (p.Ser859Pro) c.2596T>C (p.Ser866Pro) c.2729T>C (n.2729T>C) c.583T>C (p.Ser195Pro) c.367T>C (p.Ser123Pro) c.1546T>C (p.Ser516Pro) c.259T>C (p.Ser87Pro) c.267T>C n.215T>C c.2680T>C (p.Ser894Pro) c.2671T>C (p.Ser891Pro) c.2698T>C (p.Ser900Pro) c.2695T>C (p.Ser899Pro) c.2677T>C (p.Ser893Pro) c.2620T>C (p.Ser874Pro) c.2554T>C (p.Ser852Pro) c.1120T>C (p.Ser374Pro) c.472T>C (p.Ser158Pro) c.2533T>C (p.Ser845Pro) c.2668T>C (p.Ser890Pro) c.2674T>C (p.Ser892Pro) c.2590T>C (p.Ser864Pro) c.2518T>C (p.Ser840Pro) c.2452T>C (p.Ser818Pro) c.1813T>C (p.Ser605Pro) c.2431T>C (p.Ser811Pro) | |
9 | g.137800961T>G | CA375788995 | EHMT1 | c.2689T>G (p.Ser897Ala) c.2575T>G (p.Ser859Ala) c.2596T>G (p.Ser866Ala) c.2729T>G (n.2729T>G) c.583T>G (p.Ser195Ala) c.367T>G (p.Ser123Ala) c.1546T>G (p.Ser516Ala) c.259T>G (p.Ser87Ala) c.267T>G n.215T>G c.2680T>G (p.Ser894Ala) c.2671T>G (p.Ser891Ala) c.2698T>G (p.Ser900Ala) c.2695T>G (p.Ser899Ala) c.2677T>G (p.Ser893Ala) c.2620T>G (p.Ser874Ala) c.2554T>G (p.Ser852Ala) c.1120T>G (p.Ser374Ala) c.472T>G (p.Ser158Ala) c.2533T>G (p.Ser845Ala) c.2668T>G (p.Ser890Ala) c.2674T>G (p.Ser892Ala) c.2590T>G (p.Ser864Ala) c.2518T>G (p.Ser840Ala) c.2452T>G (p.Ser818Ala) c.1813T>G (p.Ser605Ala) c.2431T>G (p.Ser811Ala) | |
9 | g.137800962C>A | CA375788998 | EHMT1 | c.2690C>A (p.Ser897Tyr) c.2576C>A (p.Ser859Tyr) c.2597C>A (p.Ser866Tyr) c.2730C>A (n.2730C>A) c.584C>A (p.Ser195Tyr) c.368C>A (p.Ser123Tyr) c.1547C>A (p.Ser516Tyr) c.260C>A (p.Ser87Tyr) c.268C>A n.216C>A c.2681C>A (p.Ser894Tyr) c.2672C>A (p.Ser891Tyr) c.2699C>A (p.Ser900Tyr) c.2696C>A (p.Ser899Tyr) c.2678C>A (p.Ser893Tyr) c.2621C>A (p.Ser874Tyr) c.2555C>A (p.Ser852Tyr) c.1121C>A (p.Ser374Tyr) c.473C>A (p.Ser158Tyr) c.2534C>A (p.Ser845Tyr) c.2669C>A (p.Ser890Tyr) c.2675C>A (p.Ser892Tyr) c.2591C>A (p.Ser864Tyr) c.2519C>A (p.Ser840Tyr) c.2453C>A (p.Ser818Tyr) c.1814C>A (p.Ser605Tyr) c.2432C>A (p.Ser811Tyr) | |
9 | g.137800962C>G | CA375789000 | EHMT1 | c.2690C>G (p.Ser897Cys) c.2576C>G (p.Ser859Cys) c.2597C>G (p.Ser866Cys) c.2730C>G (n.2730C>G) c.584C>G (p.Ser195Cys) c.368C>G (p.Ser123Cys) c.1547C>G (p.Ser516Cys) c.260C>G (p.Ser87Cys) c.268C>G n.216C>G c.2681C>G (p.Ser894Cys) c.2672C>G (p.Ser891Cys) c.2699C>G (p.Ser900Cys) c.2696C>G (p.Ser899Cys) c.2678C>G (p.Ser893Cys) c.2621C>G (p.Ser874Cys) c.2555C>G (p.Ser852Cys) c.1121C>G (p.Ser374Cys) c.473C>G (p.Ser158Cys) c.2534C>G (p.Ser845Cys) c.2669C>G (p.Ser890Cys) c.2675C>G (p.Ser892Cys) c.2591C>G (p.Ser864Cys) c.2519C>G (p.Ser840Cys) c.2453C>G (p.Ser818Cys) c.1814C>G (p.Ser605Cys) c.2432C>G (p.Ser811Cys) | ClinVar gnomAD v4 |
9 | g.137800962C>T | CA375789001 | EHMT1 | c.2690C>T (p.Ser897Phe) c.2576C>T (p.Ser859Phe) c.2597C>T (p.Ser866Phe) c.2730C>T (n.2730C>T) c.584C>T (p.Ser195Phe) c.368C>T (p.Ser123Phe) c.1547C>T (p.Ser516Phe) c.260C>T (p.Ser87Phe) c.268C>T n.216C>T c.2681C>T (p.Ser894Phe) c.2672C>T (p.Ser891Phe) c.2699C>T (p.Ser900Phe) c.2696C>T (p.Ser899Phe) c.2678C>T (p.Ser893Phe) c.2621C>T (p.Ser874Phe) c.2555C>T (p.Ser852Phe) c.1121C>T (p.Ser374Phe) c.473C>T (p.Ser158Phe) c.2534C>T (p.Ser845Phe) c.2669C>T (p.Ser890Phe) c.2675C>T (p.Ser892Phe) c.2591C>T (p.Ser864Phe) c.2519C>T (p.Ser840Phe) c.2453C>T (p.Ser818Phe) c.1814C>T (p.Ser605Phe) c.2432C>T (p.Ser811Phe) | |
9 | g.137800963T>A | CA467877666 | EHMT1 | c.2691T>A (p.Ser897=) c.2577T>A (p.Ser859=) c.2598T>A (p.Ser866=) c.2731T>A (n.2731T>A) c.585T>A (p.Ser195=) c.369T>A (p.Ser123=) c.1548T>A (p.Ser516=) c.261T>A (p.Ser87=) c.269T>A n.217T>A c.2682T>A (p.Ser894=) c.2673T>A (p.Ser891=) c.2700T>A (p.Ser900=) c.2697T>A (p.Ser899=) c.2679T>A (p.Ser893=) c.2622T>A (p.Ser874=) c.2556T>A (p.Ser852=) c.1122T>A (p.Ser374=) c.474T>A (p.Ser158=) c.2535T>A (p.Ser845=) c.2670T>A (p.Ser890=) c.2676T>A (p.Ser892=) c.2592T>A (p.Ser864=) c.2520T>A (p.Ser840=) c.2454T>A (p.Ser818=) c.1815T>A (p.Ser605=) c.2433T>A (p.Ser811=) | |
9 | g.137800963T>C | CA467877667 | EHMT1 | c.2691T>C (p.Ser897=) c.2577T>C (p.Ser859=) c.2598T>C (p.Ser866=) c.2731T>C (n.2731T>C) c.585T>C (p.Ser195=) c.369T>C (p.Ser123=) c.1548T>C (p.Ser516=) c.261T>C (p.Ser87=) c.269T>C n.217T>C c.2682T>C (p.Ser894=) c.2673T>C (p.Ser891=) c.2700T>C (p.Ser900=) c.2697T>C (p.Ser899=) c.2679T>C (p.Ser893=) c.2622T>C (p.Ser874=) c.2556T>C (p.Ser852=) c.1122T>C (p.Ser374=) c.474T>C (p.Ser158=) c.2535T>C (p.Ser845=) c.2670T>C (p.Ser890=) c.2676T>C (p.Ser892=) c.2592T>C (p.Ser864=) c.2520T>C (p.Ser840=) c.2454T>C (p.Ser818=) c.1815T>C (p.Ser605=) c.2433T>C (p.Ser811=) | |
9 | g.137800963T>G | CA241100 | EHMT1 | c.2691T>G (p.Ser897=) c.2577T>G (p.Ser859=) c.2598T>G (p.Ser866=) c.2731T>G (n.2731T>G) c.585T>G (p.Ser195=) c.369T>G (p.Ser123=) c.1548T>G (p.Ser516=) c.261T>G (p.Ser87=) c.269T>G n.217T>G c.2682T>G (p.Ser894=) c.2673T>G (p.Ser891=) c.2700T>G (p.Ser900=) c.2697T>G (p.Ser899=) c.2679T>G (p.Ser893=) c.2622T>G (p.Ser874=) c.2556T>G (p.Ser852=) c.1122T>G (p.Ser374=) c.474T>G (p.Ser158=) c.2535T>G (p.Ser845=) c.2670T>G (p.Ser890=) c.2676T>G (p.Ser892=) c.2592T>G (p.Ser864=) c.2520T>G (p.Ser840=) c.2454T>G (p.Ser818=) c.1815T>G (p.Ser605=) c.2433T>G (p.Ser811=) | ClinVar dbSNP |
9 | g.137800963T= | CA1884679289 | EHMT1 | c.2691T= (p.Ser897=) c.2577T= (p.Ser859=) c.2598T= (p.Ser866=) c.2731T= (n.2731T=) c.585T= (p.Ser195=) c.369T= (p.Ser123=) c.1548T= (p.Ser516=) c.261T= (p.Ser87=) c.269T= n.217T= c.2682T= (p.Ser894=) c.2673T= (p.Ser891=) c.2700T= (p.Ser900=) c.2697T= (p.Ser899=) c.2679T= (p.Ser893=) c.2622T= (p.Ser874=) c.2556T= (p.Ser852=) c.1122T= (p.Ser374=) c.474T= (p.Ser158=) c.2535T= (p.Ser845=) c.2670T= (p.Ser890=) c.2676T= (p.Ser892=) c.2592T= (p.Ser864=) c.2520T= (p.Ser840=) c.2454T= (p.Ser818=) c.1815T= (p.Ser605=) c.2433T= (p.Ser811=) | |
9 | g.137800964G>A | CA375789004 | EHMT1 | c.2692G>A (p.Asp898Asn) c.2578G>A (p.Asp860Asn) c.2599G>A (p.Asp867Asn) c.2732G>A (n.2732G>A) c.586G>A (p.Asp196Asn) c.370G>A (p.Asp124Asn) c.1549G>A (p.Asp517Asn) c.262G>A (p.Asp88Asn) c.270G>A n.218G>A c.2683G>A (p.Asp895Asn) c.2674G>A (p.Asp892Asn) c.2701G>A (p.Asp901Asn) c.2698G>A (p.Asp900Asn) c.2680G>A (p.Asp894Asn) c.2623G>A (p.Asp875Asn) c.2557G>A (p.Asp853Asn) c.1123G>A (p.Asp375Asn) c.475G>A (p.Asp159Asn) c.2536G>A (p.Asp846Asn) c.2671G>A (p.Asp891Asn) c.2677G>A (p.Asp893Asn) c.2593G>A (p.Asp865Asn) c.2521G>A (p.Asp841Asn) c.2455G>A (p.Asp819Asn) c.1816G>A (p.Asp606Asn) c.2434G>A (p.Asp812Asn) | gnomAD v4 |
9 | g.137800964G>C | CA375789006 | EHMT1 | c.2692G>C (p.Asp898His) c.2578G>C (p.Asp860His) c.2599G>C (p.Asp867His) c.2732G>C (n.2732G>C) c.586G>C (p.Asp196His) c.370G>C (p.Asp124His) c.1549G>C (p.Asp517His) c.262G>C (p.Asp88His) c.270G>C n.218G>C c.2683G>C (p.Asp895His) c.2674G>C (p.Asp892His) c.2701G>C (p.Asp901His) c.2698G>C (p.Asp900His) c.2680G>C (p.Asp894His) c.2623G>C (p.Asp875His) c.2557G>C (p.Asp853His) c.1123G>C (p.Asp375His) c.475G>C (p.Asp159His) c.2536G>C (p.Asp846His) c.2671G>C (p.Asp891His) c.2677G>C (p.Asp893His) c.2593G>C (p.Asp865His) c.2521G>C (p.Asp841His) c.2455G>C (p.Asp819His) c.1816G>C (p.Asp606His) c.2434G>C (p.Asp812His) | |
9 | g.137800964G>T | CA375789007 | EHMT1 | c.2692G>T (p.Asp898Tyr) c.2578G>T (p.Asp860Tyr) c.2599G>T (p.Asp867Tyr) c.2732G>T (n.2732G>T) c.586G>T (p.Asp196Tyr) c.370G>T (p.Asp124Tyr) c.1549G>T (p.Asp517Tyr) c.262G>T (p.Asp88Tyr) c.270G>T n.218G>T c.2683G>T (p.Asp895Tyr) c.2674G>T (p.Asp892Tyr) c.2701G>T (p.Asp901Tyr) c.2698G>T (p.Asp900Tyr) c.2680G>T (p.Asp894Tyr) c.2623G>T (p.Asp875Tyr) c.2557G>T (p.Asp853Tyr) c.1123G>T (p.Asp375Tyr) c.475G>T (p.Asp159Tyr) c.2536G>T (p.Asp846Tyr) c.2671G>T (p.Asp891Tyr) c.2677G>T (p.Asp893Tyr) c.2593G>T (p.Asp865Tyr) c.2521G>T (p.Asp841Tyr) c.2455G>T (p.Asp819Tyr) c.1816G>T (p.Asp606Tyr) c.2434G>T (p.Asp812Tyr) | |
9 | g.137800965A>C | CA375789011 | EHMT1 | c.2693A>C (p.Asp898Ala) c.2579A>C (p.Asp860Ala) c.2600A>C (p.Asp867Ala) c.2733A>C (n.2733A>C) c.587A>C (p.Asp196Ala) c.371A>C (p.Asp124Ala) c.1550A>C (p.Asp517Ala) c.263A>C (p.Asp88Ala) c.271A>C n.219A>C c.2684A>C (p.Asp895Ala) c.2675A>C (p.Asp892Ala) c.2702A>C (p.Asp901Ala) c.2699A>C (p.Asp900Ala) c.2681A>C (p.Asp894Ala) c.2624A>C (p.Asp875Ala) c.2558A>C (p.Asp853Ala) c.1124A>C (p.Asp375Ala) c.476A>C (p.Asp159Ala) c.2537A>C (p.Asp846Ala) c.2672A>C (p.Asp891Ala) c.2678A>C (p.Asp893Ala) c.2594A>C (p.Asp865Ala) c.2522A>C (p.Asp841Ala) c.2456A>C (p.Asp819Ala) c.1817A>C (p.Asp606Ala) c.2435A>C (p.Asp812Ala) | |
9 | g.137800965A>G | CA375789012 | EHMT1 | c.2693A>G (p.Asp898Gly) c.2579A>G (p.Asp860Gly) c.2600A>G (p.Asp867Gly) c.2733A>G (n.2733A>G) c.587A>G (p.Asp196Gly) c.371A>G (p.Asp124Gly) c.1550A>G (p.Asp517Gly) c.263A>G (p.Asp88Gly) c.271A>G n.219A>G c.2684A>G (p.Asp895Gly) c.2675A>G (p.Asp892Gly) c.2702A>G (p.Asp901Gly) c.2699A>G (p.Asp900Gly) c.2681A>G (p.Asp894Gly) c.2624A>G (p.Asp875Gly) c.2558A>G (p.Asp853Gly) c.1124A>G (p.Asp375Gly) c.476A>G (p.Asp159Gly) c.2537A>G (p.Asp846Gly) c.2672A>G (p.Asp891Gly) c.2678A>G (p.Asp893Gly) c.2594A>G (p.Asp865Gly) c.2522A>G (p.Asp841Gly) c.2456A>G (p.Asp819Gly) c.1817A>G (p.Asp606Gly) c.2435A>G (p.Asp812Gly) | |
9 | g.137800965A>T | CA375789009 | EHMT1 | c.2693A>T (p.Asp898Val) c.2579A>T (p.Asp860Val) c.2600A>T (p.Asp867Val) c.2733A>T (n.2733A>T) c.587A>T (p.Asp196Val) c.371A>T (p.Asp124Val) c.1550A>T (p.Asp517Val) c.263A>T (p.Asp88Val) c.271A>T n.219A>T c.2684A>T (p.Asp895Val) c.2675A>T (p.Asp892Val) c.2702A>T (p.Asp901Val) c.2699A>T (p.Asp900Val) c.2681A>T (p.Asp894Val) c.2624A>T (p.Asp875Val) c.2558A>T (p.Asp853Val) c.1124A>T (p.Asp375Val) c.476A>T (p.Asp159Val) c.2537A>T (p.Asp846Val) c.2672A>T (p.Asp891Val) c.2678A>T (p.Asp893Val) c.2594A>T (p.Asp865Val) c.2522A>T (p.Asp841Val) c.2456A>T (p.Asp819Val) c.1817A>T (p.Asp606Val) c.2435A>T (p.Asp812Val) | |
9 | g.137800966C>A | CA375789016 | EHMT1 | c.2694C>A (p.Asp898Glu) c.2580C>A (p.Asp860Glu) c.2601C>A (p.Asp867Glu) c.2734C>A (n.2734C>A) c.588C>A (p.Asp196Glu) c.372C>A (p.Asp124Glu) c.1551C>A (p.Asp517Glu) c.264C>A (p.Asp88Glu) c.272C>A n.220C>A c.2685C>A (p.Asp895Glu) c.2676C>A (p.Asp892Glu) c.2703C>A (p.Asp901Glu) c.2700C>A (p.Asp900Glu) c.2682C>A (p.Asp894Glu) c.2625C>A (p.Asp875Glu) c.2559C>A (p.Asp853Glu) c.1125C>A (p.Asp375Glu) c.477C>A (p.Asp159Glu) c.2538C>A (p.Asp846Glu) c.2673C>A (p.Asp891Glu) c.2679C>A (p.Asp893Glu) c.2595C>A (p.Asp865Glu) c.2523C>A (p.Asp841Glu) c.2457C>A (p.Asp819Glu) c.1818C>A (p.Asp606Glu) c.2436C>A (p.Asp812Glu) | |
9 | g.137800966C>G | CA375789014 | EHMT1 | c.2694C>G (p.Asp898Glu) c.2580C>G (p.Asp860Glu) c.2601C>G (p.Asp867Glu) c.2734C>G (n.2734C>G) c.588C>G (p.Asp196Glu) c.372C>G (p.Asp124Glu) c.1551C>G (p.Asp517Glu) c.264C>G (p.Asp88Glu) c.272C>G n.220C>G c.2685C>G (p.Asp895Glu) c.2676C>G (p.Asp892Glu) c.2703C>G (p.Asp901Glu) c.2700C>G (p.Asp900Glu) c.2682C>G (p.Asp894Glu) c.2625C>G (p.Asp875Glu) c.2559C>G (p.Asp853Glu) c.1125C>G (p.Asp375Glu) c.477C>G (p.Asp159Glu) c.2538C>G (p.Asp846Glu) c.2673C>G (p.Asp891Glu) c.2679C>G (p.Asp893Glu) c.2595C>G (p.Asp865Glu) c.2523C>G (p.Asp841Glu) c.2457C>G (p.Asp819Glu) c.1818C>G (p.Asp606Glu) c.2436C>G (p.Asp812Glu) | |
9 | g.137800966C>T | CA467877668 | EHMT1 | c.2694C>T (p.Asp898=) c.2580C>T (p.Asp860=) c.2601C>T (p.Asp867=) c.2734C>T (n.2734C>T) c.588C>T (p.Asp196=) c.372C>T (p.Asp124=) c.1551C>T (p.Asp517=) c.264C>T (p.Asp88=) c.272C>T n.220C>T c.2685C>T (p.Asp895=) c.2676C>T (p.Asp892=) c.2703C>T (p.Asp901=) c.2700C>T (p.Asp900=) c.2682C>T (p.Asp894=) c.2625C>T (p.Asp875=) c.2559C>T (p.Asp853=) c.1125C>T (p.Asp375=) c.477C>T (p.Asp159=) c.2538C>T (p.Asp846=) c.2673C>T (p.Asp891=) c.2679C>T (p.Asp893=) c.2595C>T (p.Asp865=) c.2523C>T (p.Asp841=) c.2457C>T (p.Asp819=) c.1818C>T (p.Asp606=) c.2436C>T (p.Asp812=) | |
9 | g.137800967A= | CA1884679290 | EHMT1 | c.2695A= (p.Ile899=) c.2581A= (p.Ile861=) c.2602A= (p.Ile868=) c.2735A= (n.2735A=) c.589A= (p.Ile197=) c.373A= (p.Ile125=) c.1552A= (p.Ile518=) c.265A= (p.Ile89=) c.273A= n.221A= c.2686A= (p.Ile896=) c.2677A= (p.Ile893=) c.2704A= (p.Ile902=) c.2701A= (p.Ile901=) c.2683A= (p.Ile895=) c.2626A= (p.Ile876=) c.2560A= (p.Ile854=) c.1126A= (p.Ile376=) c.478A= (p.Ile160=) c.2539A= (p.Ile847=) c.2674A= (p.Ile892=) c.2680A= (p.Ile894=) c.2596A= (p.Ile866=) c.2524A= (p.Ile842=) c.2458A= (p.Ile820=) c.1819A= (p.Ile607=) c.2437A= (p.Ile813=) | |
9 | g.137800967A>C | CA375789020 | EHMT1 | c.2695A>C (p.Ile899Leu) c.2581A>C (p.Ile861Leu) c.2602A>C (p.Ile868Leu) c.2735A>C (n.2735A>C) c.589A>C (p.Ile197Leu) c.373A>C (p.Ile125Leu) c.1552A>C (p.Ile518Leu) c.265A>C (p.Ile89Leu) c.273A>C n.221A>C c.2686A>C (p.Ile896Leu) c.2677A>C (p.Ile893Leu) c.2704A>C (p.Ile902Leu) c.2701A>C (p.Ile901Leu) c.2683A>C (p.Ile895Leu) c.2626A>C (p.Ile876Leu) c.2560A>C (p.Ile854Leu) c.1126A>C (p.Ile376Leu) c.478A>C (p.Ile160Leu) c.2539A>C (p.Ile847Leu) c.2674A>C (p.Ile892Leu) c.2680A>C (p.Ile894Leu) c.2596A>C (p.Ile866Leu) c.2524A>C (p.Ile842Leu) c.2458A>C (p.Ile820Leu) c.1819A>C (p.Ile607Leu) c.2437A>C (p.Ile813Leu) | |
9 | g.137800967A>G | CA241102 | EHMT1 | c.2695A>G (p.Ile899Val) c.2581A>G (p.Ile861Val) c.2602A>G (p.Ile868Val) c.2735A>G (n.2735A>G) c.589A>G (p.Ile197Val) c.373A>G (p.Ile125Val) c.1552A>G (p.Ile518Val) c.265A>G (p.Ile89Val) c.273A>G n.221A>G c.2686A>G (p.Ile896Val) c.2677A>G (p.Ile893Val) c.2704A>G (p.Ile902Val) c.2701A>G (p.Ile901Val) c.2683A>G (p.Ile895Val) c.2626A>G (p.Ile876Val) c.2560A>G (p.Ile854Val) c.1126A>G (p.Ile376Val) c.478A>G (p.Ile160Val) c.2539A>G (p.Ile847Val) c.2674A>G (p.Ile892Val) c.2680A>G (p.Ile894Val) c.2596A>G (p.Ile866Val) c.2524A>G (p.Ile842Val) c.2458A>G (p.Ile820Val) c.1819A>G (p.Ile607Val) c.2437A>G (p.Ile813Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800967A>T | CA375789018 | EHMT1 | c.2695A>T (p.Ile899Phe) c.2581A>T (p.Ile861Phe) c.2602A>T (p.Ile868Phe) c.2735A>T (n.2735A>T) c.589A>T (p.Ile197Phe) c.373A>T (p.Ile125Phe) c.1552A>T (p.Ile518Phe) c.265A>T (p.Ile89Phe) c.273A>T n.221A>T c.2686A>T (p.Ile896Phe) c.2677A>T (p.Ile893Phe) c.2704A>T (p.Ile902Phe) c.2701A>T (p.Ile901Phe) c.2683A>T (p.Ile895Phe) c.2626A>T (p.Ile876Phe) c.2560A>T (p.Ile854Phe) c.1126A>T (p.Ile376Phe) c.478A>T (p.Ile160Phe) c.2539A>T (p.Ile847Phe) c.2674A>T (p.Ile892Phe) c.2680A>T (p.Ile894Phe) c.2596A>T (p.Ile866Phe) c.2524A>T (p.Ile842Phe) c.2458A>T (p.Ile820Phe) c.1819A>T (p.Ile607Phe) c.2437A>T (p.Ile813Phe) | |
9 | g.137800968T>A | CA375789021 | EHMT1 | c.2696T>A (p.Ile899Asn) c.2582T>A (p.Ile861Asn) c.2603T>A (p.Ile868Asn) c.2736T>A (n.2736T>A) c.590T>A (p.Ile197Asn) c.374T>A (p.Ile125Asn) c.1553T>A (p.Ile518Asn) c.266T>A (p.Ile89Asn) c.274T>A n.222T>A c.2687T>A (p.Ile896Asn) c.2678T>A (p.Ile893Asn) c.2705T>A (p.Ile902Asn) c.2702T>A (p.Ile901Asn) c.2684T>A (p.Ile895Asn) c.2627T>A (p.Ile876Asn) c.2561T>A (p.Ile854Asn) c.1127T>A (p.Ile376Asn) c.479T>A (p.Ile160Asn) c.2540T>A (p.Ile847Asn) c.2675T>A (p.Ile892Asn) c.2681T>A (p.Ile894Asn) c.2597T>A (p.Ile866Asn) c.2525T>A (p.Ile842Asn) c.2459T>A (p.Ile820Asn) c.1820T>A (p.Ile607Asn) c.2438T>A (p.Ile813Asn) | |
9 | g.137800968T>C | CA375789023 | EHMT1 | c.2696T>C (p.Ile899Thr) c.2582T>C (p.Ile861Thr) c.2603T>C (p.Ile868Thr) c.2736T>C (n.2736T>C) c.590T>C (p.Ile197Thr) c.374T>C (p.Ile125Thr) c.1553T>C (p.Ile518Thr) c.266T>C (p.Ile89Thr) c.274T>C n.222T>C c.2687T>C (p.Ile896Thr) c.2678T>C (p.Ile893Thr) c.2705T>C (p.Ile902Thr) c.2702T>C (p.Ile901Thr) c.2684T>C (p.Ile895Thr) c.2627T>C (p.Ile876Thr) c.2561T>C (p.Ile854Thr) c.1127T>C (p.Ile376Thr) c.479T>C (p.Ile160Thr) c.2540T>C (p.Ile847Thr) c.2675T>C (p.Ile892Thr) c.2681T>C (p.Ile894Thr) c.2597T>C (p.Ile866Thr) c.2525T>C (p.Ile842Thr) c.2459T>C (p.Ile820Thr) c.1820T>C (p.Ile607Thr) c.2438T>C (p.Ile813Thr) | |
9 | g.137800968T>G | CA375789024 | EHMT1 | c.2696T>G (p.Ile899Ser) c.2582T>G (p.Ile861Ser) c.2603T>G (p.Ile868Ser) c.2736T>G (n.2736T>G) c.590T>G (p.Ile197Ser) c.374T>G (p.Ile125Ser) c.1553T>G (p.Ile518Ser) c.266T>G (p.Ile89Ser) c.274T>G n.222T>G c.2687T>G (p.Ile896Ser) c.2678T>G (p.Ile893Ser) c.2705T>G (p.Ile902Ser) c.2702T>G (p.Ile901Ser) c.2684T>G (p.Ile895Ser) c.2627T>G (p.Ile876Ser) c.2561T>G (p.Ile854Ser) c.1127T>G (p.Ile376Ser) c.479T>G (p.Ile160Ser) c.2540T>G (p.Ile847Ser) c.2675T>G (p.Ile892Ser) c.2681T>G (p.Ile894Ser) c.2597T>G (p.Ile866Ser) c.2525T>G (p.Ile842Ser) c.2459T>G (p.Ile820Ser) c.1820T>G (p.Ile607Ser) c.2438T>G (p.Ile813Ser) | |
9 | g.137800969C>A | CA467877672 | EHMT1 | c.2697C>A (p.Ile899=) c.2583C>A (p.Ile861=) c.2604C>A (p.Ile868=) c.2737C>A (n.2737C>A) c.591C>A (p.Ile197=) c.375C>A (p.Ile125=) c.1554C>A (p.Ile518=) c.267C>A (p.Ile89=) c.275C>A n.223C>A c.2688C>A (p.Ile896=) c.2679C>A (p.Ile893=) c.2706C>A (p.Ile902=) c.2703C>A (p.Ile901=) c.2685C>A (p.Ile895=) c.2628C>A (p.Ile876=) c.2562C>A (p.Ile854=) c.1128C>A (p.Ile376=) c.480C>A (p.Ile160=) c.2541C>A (p.Ile847=) c.2676C>A (p.Ile892=) c.2682C>A (p.Ile894=) c.2598C>A (p.Ile866=) c.2526C>A (p.Ile842=) c.2460C>A (p.Ile820=) c.1821C>A (p.Ile607=) c.2439C>A (p.Ile813=) | gnomAD v4 |
9 | g.137800969C>G | CA375789026 | EHMT1 | c.2697C>G (p.Ile899Met) c.2583C>G (p.Ile861Met) c.2604C>G (p.Ile868Met) c.2737C>G (n.2737C>G) c.591C>G (p.Ile197Met) c.375C>G (p.Ile125Met) c.1554C>G (p.Ile518Met) c.267C>G (p.Ile89Met) c.275C>G n.223C>G c.2688C>G (p.Ile896Met) c.2679C>G (p.Ile893Met) c.2706C>G (p.Ile902Met) c.2703C>G (p.Ile901Met) c.2685C>G (p.Ile895Met) c.2628C>G (p.Ile876Met) c.2562C>G (p.Ile854Met) c.1128C>G (p.Ile376Met) c.480C>G (p.Ile160Met) c.2541C>G (p.Ile847Met) c.2676C>G (p.Ile892Met) c.2682C>G (p.Ile894Met) c.2598C>G (p.Ile866Met) c.2526C>G (p.Ile842Met) c.2460C>G (p.Ile820Met) c.1821C>G (p.Ile607Met) c.2439C>G (p.Ile813Met) | |
9 | g.137800969C>T | CA467877673 | EHMT1 | c.2697C>T (p.Ile899=) c.2583C>T (p.Ile861=) c.2604C>T (p.Ile868=) c.2737C>T (n.2737C>T) c.591C>T (p.Ile197=) c.375C>T (p.Ile125=) c.1554C>T (p.Ile518=) c.267C>T (p.Ile89=) c.275C>T n.223C>T c.2688C>T (p.Ile896=) c.2679C>T (p.Ile893=) c.2706C>T (p.Ile902=) c.2703C>T (p.Ile901=) c.2685C>T (p.Ile895=) c.2628C>T (p.Ile876=) c.2562C>T (p.Ile854=) c.1128C>T (p.Ile376=) c.480C>T (p.Ile160=) c.2541C>T (p.Ile847=) c.2676C>T (p.Ile892=) c.2682C>T (p.Ile894=) c.2598C>T (p.Ile866=) c.2526C>T (p.Ile842=) c.2460C>T (p.Ile820=) c.1821C>T (p.Ile607=) c.2439C>T (p.Ile813=) | |
9 | g.137800970A>C | CA375789028 | EHMT1 | c.2698A>C (p.Asn900His) c.2584A>C (p.Asn862His) c.2605A>C (p.Asn869His) c.2738A>C (n.2738A>C) c.592A>C (p.Asn198His) c.376A>C (p.Asn126His) c.1555A>C (p.Asn519His) c.268A>C (p.Asn90His) c.276A>C n.224A>C c.2689A>C (p.Asn897His) c.2680A>C (p.Asn894His) c.2707A>C (p.Asn903His) c.2704A>C (p.Asn902His) c.2686A>C (p.Asn896His) c.2629A>C (p.Asn877His) c.2563A>C (p.Asn855His) c.1129A>C (p.Asn377His) c.481A>C (p.Asn161His) c.2542A>C (p.Asn848His) c.2677A>C (p.Asn893His) c.2683A>C (p.Asn895His) c.2599A>C (p.Asn867His) c.2527A>C (p.Asn843His) c.2461A>C (p.Asn821His) c.1822A>C (p.Asn608His) c.2440A>C (p.Asn814His) | |
9 | g.137800970A>G | CA375789030 | EHMT1 | c.2698A>G (p.Asn900Asp) c.2584A>G (p.Asn862Asp) c.2605A>G (p.Asn869Asp) c.2738A>G (n.2738A>G) c.592A>G (p.Asn198Asp) c.376A>G (p.Asn126Asp) c.1555A>G (p.Asn519Asp) c.268A>G (p.Asn90Asp) c.276A>G n.224A>G c.2689A>G (p.Asn897Asp) c.2680A>G (p.Asn894Asp) c.2707A>G (p.Asn903Asp) c.2704A>G (p.Asn902Asp) c.2686A>G (p.Asn896Asp) c.2629A>G (p.Asn877Asp) c.2563A>G (p.Asn855Asp) c.1129A>G (p.Asn377Asp) c.481A>G (p.Asn161Asp) c.2542A>G (p.Asn848Asp) c.2677A>G (p.Asn893Asp) c.2683A>G (p.Asn895Asp) c.2599A>G (p.Asn867Asp) c.2527A>G (p.Asn843Asp) c.2461A>G (p.Asn821Asp) c.1822A>G (p.Asn608Asp) c.2440A>G (p.Asn814Asp) | |
9 | g.137800970A>T | CA375789031 | EHMT1 | c.2698A>T (p.Asn900Tyr) c.2584A>T (p.Asn862Tyr) c.2605A>T (p.Asn869Tyr) c.2738A>T (n.2738A>T) c.592A>T (p.Asn198Tyr) c.376A>T (p.Asn126Tyr) c.1555A>T (p.Asn519Tyr) c.268A>T (p.Asn90Tyr) c.276A>T n.224A>T c.2689A>T (p.Asn897Tyr) c.2680A>T (p.Asn894Tyr) c.2707A>T (p.Asn903Tyr) c.2704A>T (p.Asn902Tyr) c.2686A>T (p.Asn896Tyr) c.2629A>T (p.Asn877Tyr) c.2563A>T (p.Asn855Tyr) c.1129A>T (p.Asn377Tyr) c.481A>T (p.Asn161Tyr) c.2542A>T (p.Asn848Tyr) c.2677A>T (p.Asn893Tyr) c.2683A>T (p.Asn895Tyr) c.2599A>T (p.Asn867Tyr) c.2527A>T (p.Asn843Tyr) c.2461A>T (p.Asn821Tyr) c.1822A>T (p.Asn608Tyr) c.2440A>T (p.Asn814Tyr) | |
9 | g.137800971A>C | CA375789033 | EHMT1 | c.2699A>C (p.Asn900Thr) c.2585A>C (p.Asn862Thr) c.2606A>C (p.Asn869Thr) c.2739A>C (n.2739A>C) c.593A>C (p.Asn198Thr) c.377A>C (p.Asn126Thr) c.1556A>C (p.Asn519Thr) c.269A>C (p.Asn90Thr) c.277A>C n.225A>C c.2690A>C (p.Asn897Thr) c.2681A>C (p.Asn894Thr) c.2708A>C (p.Asn903Thr) c.2705A>C (p.Asn902Thr) c.2687A>C (p.Asn896Thr) c.2630A>C (p.Asn877Thr) c.2564A>C (p.Asn855Thr) c.1130A>C (p.Asn377Thr) c.482A>C (p.Asn161Thr) c.2543A>C (p.Asn848Thr) c.2678A>C (p.Asn893Thr) c.2684A>C (p.Asn895Thr) c.2600A>C (p.Asn867Thr) c.2528A>C (p.Asn843Thr) c.2462A>C (p.Asn821Thr) c.1823A>C (p.Asn608Thr) c.2441A>C (p.Asn814Thr) | |
9 | g.137800971A>G | CA375789034 | EHMT1 | c.2699A>G (p.Asn900Ser) c.2585A>G (p.Asn862Ser) c.2606A>G (p.Asn869Ser) c.2739A>G (n.2739A>G) c.593A>G (p.Asn198Ser) c.377A>G (p.Asn126Ser) c.1556A>G (p.Asn519Ser) c.269A>G (p.Asn90Ser) c.277A>G n.225A>G c.2690A>G (p.Asn897Ser) c.2681A>G (p.Asn894Ser) c.2708A>G (p.Asn903Ser) c.2705A>G (p.Asn902Ser) c.2687A>G (p.Asn896Ser) c.2630A>G (p.Asn877Ser) c.2564A>G (p.Asn855Ser) c.1130A>G (p.Asn377Ser) c.482A>G (p.Asn161Ser) c.2543A>G (p.Asn848Ser) c.2678A>G (p.Asn893Ser) c.2684A>G (p.Asn895Ser) c.2600A>G (p.Asn867Ser) c.2528A>G (p.Asn843Ser) c.2462A>G (p.Asn821Ser) c.1823A>G (p.Asn608Ser) c.2441A>G (p.Asn814Ser) | gnomAD v4 |
9 | g.137800971A>T | CA375789036 | EHMT1 | c.2699A>T (p.Asn900Ile) c.2585A>T (p.Asn862Ile) c.2606A>T (p.Asn869Ile) c.2739A>T (n.2739A>T) c.593A>T (p.Asn198Ile) c.377A>T (p.Asn126Ile) c.1556A>T (p.Asn519Ile) c.269A>T (p.Asn90Ile) c.277A>T n.225A>T c.2690A>T (p.Asn897Ile) c.2681A>T (p.Asn894Ile) c.2708A>T (p.Asn903Ile) c.2705A>T (p.Asn902Ile) c.2687A>T (p.Asn896Ile) c.2630A>T (p.Asn877Ile) c.2564A>T (p.Asn855Ile) c.1130A>T (p.Asn377Ile) c.482A>T (p.Asn161Ile) c.2543A>T (p.Asn848Ile) c.2678A>T (p.Asn893Ile) c.2684A>T (p.Asn895Ile) c.2600A>T (p.Asn867Ile) c.2528A>T (p.Asn843Ile) c.2462A>T (p.Asn821Ile) c.1823A>T (p.Asn608Ile) c.2441A>T (p.Asn814Ile) | |
9 | g.137800972C>A | CA375789039 | EHMT1 | c.2700C>A (p.Asn900Lys) c.2586C>A (p.Asn862Lys) c.2607C>A (p.Asn869Lys) c.2740C>A (n.2740C>A) c.594C>A (p.Asn198Lys) c.378C>A (p.Asn126Lys) c.1557C>A (p.Asn519Lys) c.270C>A (p.Asn90Lys) c.278C>A n.226C>A c.2691C>A (p.Asn897Lys) c.2682C>A (p.Asn894Lys) c.2709C>A (p.Asn903Lys) c.2706C>A (p.Asn902Lys) c.2688C>A (p.Asn896Lys) c.2631C>A (p.Asn877Lys) c.2565C>A (p.Asn855Lys) c.1131C>A (p.Asn377Lys) c.483C>A (p.Asn161Lys) c.2544C>A (p.Asn848Lys) c.2679C>A (p.Asn893Lys) c.2685C>A (p.Asn895Lys) c.2601C>A (p.Asn867Lys) c.2529C>A (p.Asn843Lys) c.2463C>A (p.Asn821Lys) c.1824C>A (p.Asn608Lys) c.2442C>A (p.Asn814Lys) | |
9 | g.137800972C>G | CA375789038 | EHMT1 | c.2700C>G (p.Asn900Lys) c.2586C>G (p.Asn862Lys) c.2607C>G (p.Asn869Lys) c.2740C>G (n.2740C>G) c.594C>G (p.Asn198Lys) c.378C>G (p.Asn126Lys) c.1557C>G (p.Asn519Lys) c.270C>G (p.Asn90Lys) c.278C>G n.226C>G c.2691C>G (p.Asn897Lys) c.2682C>G (p.Asn894Lys) c.2709C>G (p.Asn903Lys) c.2706C>G (p.Asn902Lys) c.2688C>G (p.Asn896Lys) c.2631C>G (p.Asn877Lys) c.2565C>G (p.Asn855Lys) c.1131C>G (p.Asn377Lys) c.483C>G (p.Asn161Lys) c.2544C>G (p.Asn848Lys) c.2679C>G (p.Asn893Lys) c.2685C>G (p.Asn895Lys) c.2601C>G (p.Asn867Lys) c.2529C>G (p.Asn843Lys) c.2463C>G (p.Asn821Lys) c.1824C>G (p.Asn608Lys) c.2442C>G (p.Asn814Lys) | |
9 | g.137800972C>T | CA467877674 | EHMT1 | c.2700C>T (p.Asn900=) c.2586C>T (p.Asn862=) c.2607C>T (p.Asn869=) c.2740C>T (n.2740C>T) c.594C>T (p.Asn198=) c.378C>T (p.Asn126=) c.1557C>T (p.Asn519=) c.270C>T (p.Asn90=) c.278C>T n.226C>T c.2691C>T (p.Asn897=) c.2682C>T (p.Asn894=) c.2709C>T (p.Asn903=) c.2706C>T (p.Asn902=) c.2688C>T (p.Asn896=) c.2631C>T (p.Asn877=) c.2565C>T (p.Asn855=) c.1131C>T (p.Asn377=) c.483C>T (p.Asn161=) c.2544C>T (p.Asn848=) c.2679C>T (p.Asn893=) c.2685C>T (p.Asn895=) c.2601C>T (p.Asn867=) c.2529C>T (p.Asn843=) c.2463C>T (p.Asn821=) c.1824C>T (p.Asn608=) c.2442C>T (p.Asn814=) | |
9 | g.137800973A>C | CA375789041 | EHMT1 | c.2701A>C (p.Ile901Leu) c.2587A>C (p.Ile863Leu) c.2608A>C (p.Ile870Leu) c.2741A>C (n.2741A>C) c.595A>C (p.Ile199Leu) c.379A>C (p.Ile127Leu) c.1558A>C (p.Ile520Leu) c.271A>C (p.Ile91Leu) c.279A>C n.227A>C c.2692A>C (p.Ile898Leu) c.2683A>C (p.Ile895Leu) c.2710A>C (p.Ile904Leu) c.2707A>C (p.Ile903Leu) c.2689A>C (p.Ile897Leu) c.2632A>C (p.Ile878Leu) c.2566A>C (p.Ile856Leu) c.1132A>C (p.Ile378Leu) c.484A>C (p.Ile162Leu) c.2545A>C (p.Ile849Leu) c.2680A>C (p.Ile894Leu) c.2686A>C (p.Ile896Leu) c.2602A>C (p.Ile868Leu) c.2530A>C (p.Ile844Leu) c.2464A>C (p.Ile822Leu) c.1825A>C (p.Ile609Leu) c.2443A>C (p.Ile815Leu) | |
9 | g.137800973A>G | CA375789043 | EHMT1 | c.2701A>G (p.Ile901Val) c.2587A>G (p.Ile863Val) c.2608A>G (p.Ile870Val) c.2741A>G (n.2741A>G) c.595A>G (p.Ile199Val) c.379A>G (p.Ile127Val) c.1558A>G (p.Ile520Val) c.271A>G (p.Ile91Val) c.279A>G n.227A>G c.2692A>G (p.Ile898Val) c.2683A>G (p.Ile895Val) c.2710A>G (p.Ile904Val) c.2707A>G (p.Ile903Val) c.2689A>G (p.Ile897Val) c.2632A>G (p.Ile878Val) c.2566A>G (p.Ile856Val) c.1132A>G (p.Ile378Val) c.484A>G (p.Ile162Val) c.2545A>G (p.Ile849Val) c.2680A>G (p.Ile894Val) c.2686A>G (p.Ile896Val) c.2602A>G (p.Ile868Val) c.2530A>G (p.Ile844Val) c.2464A>G (p.Ile822Val) c.1825A>G (p.Ile609Val) c.2443A>G (p.Ile815Val) | |
9 | g.137800973A>T | CA375789044 | EHMT1 | c.2701A>T (p.Ile901Phe) c.2587A>T (p.Ile863Phe) c.2608A>T (p.Ile870Phe) c.2741A>T (n.2741A>T) c.595A>T (p.Ile199Phe) c.379A>T (p.Ile127Phe) c.1558A>T (p.Ile520Phe) c.271A>T (p.Ile91Phe) c.279A>T n.227A>T c.2692A>T (p.Ile898Phe) c.2683A>T (p.Ile895Phe) c.2710A>T (p.Ile904Phe) c.2707A>T (p.Ile903Phe) c.2689A>T (p.Ile897Phe) c.2632A>T (p.Ile878Phe) c.2566A>T (p.Ile856Phe) c.1132A>T (p.Ile378Phe) c.484A>T (p.Ile162Phe) c.2545A>T (p.Ile849Phe) c.2680A>T (p.Ile894Phe) c.2686A>T (p.Ile896Phe) c.2602A>T (p.Ile868Phe) c.2530A>T (p.Ile844Phe) c.2464A>T (p.Ile822Phe) c.1825A>T (p.Ile609Phe) c.2443A>T (p.Ile815Phe) | |
9 | g.137800974T>A | CA375789046 | EHMT1 | c.2702T>A (p.Ile901Asn) c.2588T>A (p.Ile863Asn) c.2609T>A (p.Ile870Asn) c.2742T>A (n.2742T>A) c.596T>A (p.Ile199Asn) c.380T>A (p.Ile127Asn) c.1559T>A (p.Ile520Asn) c.272T>A (p.Ile91Asn) c.280T>A n.228T>A c.2693T>A (p.Ile898Asn) c.2684T>A (p.Ile895Asn) c.2711T>A (p.Ile904Asn) c.2708T>A (p.Ile903Asn) c.2690T>A (p.Ile897Asn) c.2633T>A (p.Ile878Asn) c.2567T>A (p.Ile856Asn) c.1133T>A (p.Ile378Asn) c.485T>A (p.Ile162Asn) c.2546T>A (p.Ile849Asn) c.2681T>A (p.Ile894Asn) c.2687T>A (p.Ile896Asn) c.2603T>A (p.Ile868Asn) c.2531T>A (p.Ile844Asn) c.2465T>A (p.Ile822Asn) c.1826T>A (p.Ile609Asn) c.2444T>A (p.Ile815Asn) | |
9 | g.137800974T>C | CA375789048 | EHMT1 | c.2702T>C (p.Ile901Thr) c.2588T>C (p.Ile863Thr) c.2609T>C (p.Ile870Thr) c.2742T>C (n.2742T>C) c.596T>C (p.Ile199Thr) c.380T>C (p.Ile127Thr) c.1559T>C (p.Ile520Thr) c.272T>C (p.Ile91Thr) c.280T>C n.228T>C c.2693T>C (p.Ile898Thr) c.2684T>C (p.Ile895Thr) c.2711T>C (p.Ile904Thr) c.2708T>C (p.Ile903Thr) c.2690T>C (p.Ile897Thr) c.2633T>C (p.Ile878Thr) c.2567T>C (p.Ile856Thr) c.1133T>C (p.Ile378Thr) c.485T>C (p.Ile162Thr) c.2546T>C (p.Ile849Thr) c.2681T>C (p.Ile894Thr) c.2687T>C (p.Ile896Thr) c.2603T>C (p.Ile868Thr) c.2531T>C (p.Ile844Thr) c.2465T>C (p.Ile822Thr) c.1826T>C (p.Ile609Thr) c.2444T>C (p.Ile815Thr) | |
9 | g.137800974T>G | CA375789050 | EHMT1 | c.2702T>G (p.Ile901Ser) c.2588T>G (p.Ile863Ser) c.2609T>G (p.Ile870Ser) c.2742T>G (n.2742T>G) c.596T>G (p.Ile199Ser) c.380T>G (p.Ile127Ser) c.1559T>G (p.Ile520Ser) c.272T>G (p.Ile91Ser) c.280T>G n.228T>G c.2693T>G (p.Ile898Ser) c.2684T>G (p.Ile895Ser) c.2711T>G (p.Ile904Ser) c.2708T>G (p.Ile903Ser) c.2690T>G (p.Ile897Ser) c.2633T>G (p.Ile878Ser) c.2567T>G (p.Ile856Ser) c.1133T>G (p.Ile378Ser) c.485T>G (p.Ile162Ser) c.2546T>G (p.Ile849Ser) c.2681T>G (p.Ile894Ser) c.2687T>G (p.Ile896Ser) c.2603T>G (p.Ile868Ser) c.2531T>G (p.Ile844Ser) c.2465T>G (p.Ile822Ser) c.1826T>G (p.Ile609Ser) c.2444T>G (p.Ile815Ser) | |
9 | g.137800975C>A | CA467877676 | EHMT1 | c.2703C>A (p.Ile901=) c.2589C>A (p.Ile863=) c.2610C>A (p.Ile870=) c.2743C>A (n.2743C>A) c.597C>A (p.Ile199=) c.381C>A (p.Ile127=) c.1560C>A (p.Ile520=) c.273C>A (p.Ile91=) c.281C>A n.229C>A c.2694C>A (p.Ile898=) c.2685C>A (p.Ile895=) c.2712C>A (p.Ile904=) c.2709C>A (p.Ile903=) c.2691C>A (p.Ile897=) c.2634C>A (p.Ile878=) c.2568C>A (p.Ile856=) c.1134C>A (p.Ile378=) c.486C>A (p.Ile162=) c.2547C>A (p.Ile849=) c.2682C>A (p.Ile894=) c.2688C>A (p.Ile896=) c.2604C>A (p.Ile868=) c.2532C>A (p.Ile844=) c.2466C>A (p.Ile822=) c.1827C>A (p.Ile609=) c.2445C>A (p.Ile815=) | |
9 | g.137800975C>G | CA375789051 | EHMT1 | c.2703C>G (p.Ile901Met) c.2589C>G (p.Ile863Met) c.2610C>G (p.Ile870Met) c.2743C>G (n.2743C>G) c.597C>G (p.Ile199Met) c.381C>G (p.Ile127Met) c.1560C>G (p.Ile520Met) c.273C>G (p.Ile91Met) c.281C>G n.229C>G c.2694C>G (p.Ile898Met) c.2685C>G (p.Ile895Met) c.2712C>G (p.Ile904Met) c.2709C>G (p.Ile903Met) c.2691C>G (p.Ile897Met) c.2634C>G (p.Ile878Met) c.2568C>G (p.Ile856Met) c.1134C>G (p.Ile378Met) c.486C>G (p.Ile162Met) c.2547C>G (p.Ile849Met) c.2682C>G (p.Ile894Met) c.2688C>G (p.Ile896Met) c.2604C>G (p.Ile868Met) c.2532C>G (p.Ile844Met) c.2466C>G (p.Ile822Met) c.1827C>G (p.Ile609Met) c.2445C>G (p.Ile815Met) | gnomAD v4 |
9 | g.137800975C>T | CA467877675 | EHMT1 | c.2703C>T (p.Ile901=) c.2589C>T (p.Ile863=) c.2610C>T (p.Ile870=) c.2743C>T (n.2743C>T) c.597C>T (p.Ile199=) c.381C>T (p.Ile127=) c.1560C>T (p.Ile520=) c.273C>T (p.Ile91=) c.281C>T n.229C>T c.2694C>T (p.Ile898=) c.2685C>T (p.Ile895=) c.2712C>T (p.Ile904=) c.2709C>T (p.Ile903=) c.2691C>T (p.Ile897=) c.2634C>T (p.Ile878=) c.2568C>T (p.Ile856=) c.1134C>T (p.Ile378=) c.486C>T (p.Ile162=) c.2547C>T (p.Ile849=) c.2682C>T (p.Ile894=) c.2688C>T (p.Ile896=) c.2604C>T (p.Ile868=) c.2532C>T (p.Ile844=) c.2466C>T (p.Ile822=) c.1827C>T (p.Ile609=) c.2445C>T (p.Ile815=) | ClinVar dbSNP gnomAD v4 |
9 | g.137800976C>A | CA467877677 | EHMT1 | c.2704C>A (p.Arg902=) c.2590C>A (p.Arg864=) c.2611C>A (p.Arg871=) c.2744C>A (n.2744C>A) c.598C>A (p.Arg200=) c.382C>A (p.Arg128=) c.1561C>A (p.Arg521=) c.274C>A (p.Arg92=) c.282C>A n.230C>A c.2695C>A (p.Arg899=) c.2686C>A (p.Arg896=) c.2713C>A (p.Arg905=) c.2710C>A (p.Arg904=) c.2692C>A (p.Arg898=) c.2635C>A (p.Arg879=) c.2569C>A (p.Arg857=) c.1135C>A (p.Arg379=) c.487C>A (p.Arg163=) c.2548C>A (p.Arg850=) c.2683C>A (p.Arg895=) c.2689C>A (p.Arg897=) c.2605C>A (p.Arg869=) c.2533C>A (p.Arg845=) c.2467C>A (p.Arg823=) c.1828C>A (p.Arg610=) c.2446C>A (p.Arg816=) | dbSNP |
9 | g.137800976C= | CA1884679291 | EHMT1 | c.2704C= (p.Arg902=) c.2590C= (p.Arg864=) c.2611C= (p.Arg871=) c.2744C= (n.2744C=) c.598C= (p.Arg200=) c.382C= (p.Arg128=) c.1561C= (p.Arg521=) c.274C= (p.Arg92=) c.282C= n.230C= c.2695C= (p.Arg899=) c.2686C= (p.Arg896=) c.2713C= (p.Arg905=) c.2710C= (p.Arg904=) c.2692C= (p.Arg898=) c.2635C= (p.Arg879=) c.2569C= (p.Arg857=) c.1135C= (p.Arg379=) c.487C= (p.Arg163=) c.2548C= (p.Arg850=) c.2683C= (p.Arg895=) c.2689C= (p.Arg897=) c.2605C= (p.Arg869=) c.2533C= (p.Arg845=) c.2467C= (p.Arg823=) c.1828C= (p.Arg610=) c.2446C= (p.Arg816=) | |
9 | g.137800976C>G | CA375789053 | EHMT1 | c.2704C>G (p.Arg902Gly) c.2590C>G (p.Arg864Gly) c.2611C>G (p.Arg871Gly) c.2744C>G (n.2744C>G) c.598C>G (p.Arg200Gly) c.382C>G (p.Arg128Gly) c.1561C>G (p.Arg521Gly) c.274C>G (p.Arg92Gly) c.282C>G n.230C>G c.2695C>G (p.Arg899Gly) c.2686C>G (p.Arg896Gly) c.2713C>G (p.Arg905Gly) c.2710C>G (p.Arg904Gly) c.2692C>G (p.Arg898Gly) c.2635C>G (p.Arg879Gly) c.2569C>G (p.Arg857Gly) c.1135C>G (p.Arg379Gly) c.487C>G (p.Arg163Gly) c.2548C>G (p.Arg850Gly) c.2683C>G (p.Arg895Gly) c.2689C>G (p.Arg897Gly) c.2605C>G (p.Arg869Gly) c.2533C>G (p.Arg845Gly) c.2467C>G (p.Arg823Gly) c.1828C>G (p.Arg610Gly) c.2446C>G (p.Arg816Gly) | |
9 | g.137800976C>T | CA10603028 | EHMT1 | c.2704C>T (p.Arg902Ter) c.2590C>T (p.Arg864Ter) c.2611C>T (p.Arg871Ter) c.2744C>T (n.2744C>T) c.598C>T (p.Arg200Ter) c.382C>T (p.Arg128Ter) c.1561C>T (p.Arg521Ter) c.274C>T (p.Arg92Ter) c.282C>T n.230C>T c.2695C>T (p.Arg899Ter) c.2686C>T (p.Arg896Ter) c.2713C>T (p.Arg905Ter) c.2710C>T (p.Arg904Ter) c.2692C>T (p.Arg898Ter) c.2635C>T (p.Arg879Ter) c.2569C>T (p.Arg857Ter) c.1135C>T (p.Arg379Ter) c.487C>T (p.Arg163Ter) c.2548C>T (p.Arg850Ter) c.2683C>T (p.Arg895Ter) c.2689C>T (p.Arg897Ter) c.2605C>T (p.Arg869Ter) c.2533C>T (p.Arg845Ter) c.2467C>T (p.Arg823Ter) c.1828C>T (p.Arg610Ter) c.2446C>T (p.Arg816Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.137800977G>A | CA223772 | EHMT1 | c.2705G>A (p.Arg902Gln) c.2591G>A (p.Arg864Gln) c.2612G>A (p.Arg871Gln) c.2745G>A (n.2745G>A) c.599G>A (p.Arg200Gln) c.383G>A (p.Arg128Gln) c.1562G>A (p.Arg521Gln) c.275G>A (p.Arg92Gln) c.283G>A n.231G>A c.2696G>A (p.Arg899Gln) c.2687G>A (p.Arg896Gln) c.2714G>A (p.Arg905Gln) c.2711G>A (p.Arg904Gln) c.2693G>A (p.Arg898Gln) c.2636G>A (p.Arg879Gln) c.2570G>A (p.Arg857Gln) c.1136G>A (p.Arg379Gln) c.488G>A (p.Arg163Gln) c.2549G>A (p.Arg850Gln) c.2684G>A (p.Arg895Gln) c.2690G>A (p.Arg897Gln) c.2606G>A (p.Arg869Gln) c.2534G>A (p.Arg845Gln) c.2468G>A (p.Arg823Gln) c.1829G>A (p.Arg610Gln) c.2447G>A (p.Arg816Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800977G>C | CA375789056 | EHMT1 | c.2705G>C (p.Arg902Pro) c.2591G>C (p.Arg864Pro) c.2612G>C (p.Arg871Pro) c.2745G>C (n.2745G>C) c.599G>C (p.Arg200Pro) c.383G>C (p.Arg128Pro) c.1562G>C (p.Arg521Pro) c.275G>C (p.Arg92Pro) c.283G>C n.231G>C c.2696G>C (p.Arg899Pro) c.2687G>C (p.Arg896Pro) c.2714G>C (p.Arg905Pro) c.2711G>C (p.Arg904Pro) c.2693G>C (p.Arg898Pro) c.2636G>C (p.Arg879Pro) c.2570G>C (p.Arg857Pro) c.1136G>C (p.Arg379Pro) c.488G>C (p.Arg163Pro) c.2549G>C (p.Arg850Pro) c.2684G>C (p.Arg895Pro) c.2690G>C (p.Arg897Pro) c.2606G>C (p.Arg869Pro) c.2534G>C (p.Arg845Pro) c.2468G>C (p.Arg823Pro) c.1829G>C (p.Arg610Pro) c.2447G>C (p.Arg816Pro) | |
9 | g.137800977G= | CA1884679292 | EHMT1 | c.2705G= (p.Arg902=) c.2591G= (p.Arg864=) c.2612G= (p.Arg871=) c.2745G= (n.2745G=) c.599G= (p.Arg200=) c.383G= (p.Arg128=) c.1562G= (p.Arg521=) c.275G= (p.Arg92=) c.283G= n.231G= c.2696G= (p.Arg899=) c.2687G= (p.Arg896=) c.2714G= (p.Arg905=) c.2711G= (p.Arg904=) c.2693G= (p.Arg898=) c.2636G= (p.Arg879=) c.2570G= (p.Arg857=) c.1136G= (p.Arg379=) c.488G= (p.Arg163=) c.2549G= (p.Arg850=) c.2684G= (p.Arg895=) c.2690G= (p.Arg897=) c.2606G= (p.Arg869=) c.2534G= (p.Arg845=) c.2468G= (p.Arg823=) c.1829G= (p.Arg610=) c.2447G= (p.Arg816=) | |
9 | g.137800977G>T | CA375789057 | EHMT1 | c.2705G>T (p.Arg902Leu) c.2591G>T (p.Arg864Leu) c.2612G>T (p.Arg871Leu) c.2745G>T (n.2745G>T) c.599G>T (p.Arg200Leu) c.383G>T (p.Arg128Leu) c.1562G>T (p.Arg521Leu) c.275G>T (p.Arg92Leu) c.283G>T n.231G>T c.2696G>T (p.Arg899Leu) c.2687G>T (p.Arg896Leu) c.2714G>T (p.Arg905Leu) c.2711G>T (p.Arg904Leu) c.2693G>T (p.Arg898Leu) c.2636G>T (p.Arg879Leu) c.2570G>T (p.Arg857Leu) c.1136G>T (p.Arg379Leu) c.488G>T (p.Arg163Leu) c.2549G>T (p.Arg850Leu) c.2684G>T (p.Arg895Leu) c.2690G>T (p.Arg897Leu) c.2606G>T (p.Arg869Leu) c.2534G>T (p.Arg845Leu) c.2468G>T (p.Arg823Leu) c.1829G>T (p.Arg610Leu) c.2447G>T (p.Arg816Leu) | |
9 | g.137800978A>C | CA467877678 | EHMT1 | c.2706A>C (p.Arg902=) c.2592A>C (p.Arg864=) c.2613A>C (p.Arg871=) c.2746A>C (n.2746A>C) c.600A>C (p.Arg200=) c.384A>C (p.Arg128=) c.1563A>C (p.Arg521=) c.276A>C (p.Arg92=) c.284A>C n.232A>C c.2697A>C (p.Arg899=) c.2688A>C (p.Arg896=) c.2715A>C (p.Arg905=) c.2712A>C (p.Arg904=) c.2694A>C (p.Arg898=) c.2637A>C (p.Arg879=) c.2571A>C (p.Arg857=) c.1137A>C (p.Arg379=) c.489A>C (p.Arg163=) c.2550A>C (p.Arg850=) c.2685A>C (p.Arg895=) c.2691A>C (p.Arg897=) c.2607A>C (p.Arg869=) c.2535A>C (p.Arg845=) c.2469A>C (p.Arg823=) c.1830A>C (p.Arg610=) c.2448A>C (p.Arg816=) | |
9 | g.137800978A>G | CA467877679 | EHMT1 | c.2706A>G (p.Arg902=) c.2592A>G (p.Arg864=) c.2613A>G (p.Arg871=) c.2746A>G (n.2746A>G) c.600A>G (p.Arg200=) c.384A>G (p.Arg128=) c.1563A>G (p.Arg521=) c.276A>G (p.Arg92=) c.284A>G n.232A>G c.2697A>G (p.Arg899=) c.2688A>G (p.Arg896=) c.2715A>G (p.Arg905=) c.2712A>G (p.Arg904=) c.2694A>G (p.Arg898=) c.2637A>G (p.Arg879=) c.2571A>G (p.Arg857=) c.1137A>G (p.Arg379=) c.489A>G (p.Arg163=) c.2550A>G (p.Arg850=) c.2685A>G (p.Arg895=) c.2691A>G (p.Arg897=) c.2607A>G (p.Arg869=) c.2535A>G (p.Arg845=) c.2469A>G (p.Arg823=) c.1830A>G (p.Arg610=) c.2448A>G (p.Arg816=) | dbSNP |
9 | g.137800978A>T | CA467877680 | EHMT1 | c.2706A>T (p.Arg902=) c.2592A>T (p.Arg864=) c.2613A>T (p.Arg871=) c.2746A>T (n.2746A>T) c.600A>T (p.Arg200=) c.384A>T (p.Arg128=) c.1563A>T (p.Arg521=) c.276A>T (p.Arg92=) c.284A>T n.232A>T c.2697A>T (p.Arg899=) c.2688A>T (p.Arg896=) c.2715A>T (p.Arg905=) c.2712A>T (p.Arg904=) c.2694A>T (p.Arg898=) c.2637A>T (p.Arg879=) c.2571A>T (p.Arg857=) c.1137A>T (p.Arg379=) c.489A>T (p.Arg163=) c.2550A>T (p.Arg850=) c.2685A>T (p.Arg895=) c.2691A>T (p.Arg897=) c.2607A>T (p.Arg869=) c.2535A>T (p.Arg845=) c.2469A>T (p.Arg823=) c.1830A>T (p.Arg610=) c.2448A>T (p.Arg816=) | COSMIC COSMIC |
9 | g.137800979G>A | CA375789061 | EHMT1 | c.2707G>A (p.Asp903Asn) c.2593G>A (p.Asp865Asn) c.2614G>A (p.Asp872Asn) c.2747G>A (n.2747G>A) c.601G>A (p.Asp201Asn) c.385G>A (p.Asp129Asn) c.1564G>A (p.Asp522Asn) c.277G>A (p.Asp93Asn) c.285G>A n.233G>A c.2698G>A (p.Asp900Asn) c.2689G>A (p.Asp897Asn) c.2716G>A (p.Asp906Asn) c.2713G>A (p.Asp905Asn) c.2695G>A (p.Asp899Asn) c.2638G>A (p.Asp880Asn) c.2572G>A (p.Asp858Asn) c.1138G>A (p.Asp380Asn) c.490G>A (p.Asp164Asn) c.2551G>A (p.Asp851Asn) c.2686G>A (p.Asp896Asn) c.2692G>A (p.Asp898Asn) c.2608G>A (p.Asp870Asn) c.2536G>A (p.Asp846Asn) c.2470G>A (p.Asp824Asn) c.1831G>A (p.Asp611Asn) c.2449G>A (p.Asp817Asn) | |
9 | g.137800979G>C | CA375789062 | EHMT1 | c.2707G>C (p.Asp903His) c.2593G>C (p.Asp865His) c.2614G>C (p.Asp872His) c.2747G>C (n.2747G>C) c.601G>C (p.Asp201His) c.385G>C (p.Asp129His) c.1564G>C (p.Asp522His) c.277G>C (p.Asp93His) c.285G>C n.233G>C c.2698G>C (p.Asp900His) c.2689G>C (p.Asp897His) c.2716G>C (p.Asp906His) c.2713G>C (p.Asp905His) c.2695G>C (p.Asp899His) c.2638G>C (p.Asp880His) c.2572G>C (p.Asp858His) c.1138G>C (p.Asp380His) c.490G>C (p.Asp164His) c.2551G>C (p.Asp851His) c.2686G>C (p.Asp896His) c.2692G>C (p.Asp898His) c.2608G>C (p.Asp870His) c.2536G>C (p.Asp846His) c.2470G>C (p.Asp824His) c.1831G>C (p.Asp611His) c.2449G>C (p.Asp817His) | |
9 | g.137800979G>T | CA375789059 | EHMT1 | c.2707G>T (p.Asp903Tyr) c.2593G>T (p.Asp865Tyr) c.2614G>T (p.Asp872Tyr) c.2747G>T (n.2747G>T) c.601G>T (p.Asp201Tyr) c.385G>T (p.Asp129Tyr) c.1564G>T (p.Asp522Tyr) c.277G>T (p.Asp93Tyr) c.285G>T n.233G>T c.2698G>T (p.Asp900Tyr) c.2689G>T (p.Asp897Tyr) c.2716G>T (p.Asp906Tyr) c.2713G>T (p.Asp905Tyr) c.2695G>T (p.Asp899Tyr) c.2638G>T (p.Asp880Tyr) c.2572G>T (p.Asp858Tyr) c.1138G>T (p.Asp380Tyr) c.490G>T (p.Asp164Tyr) c.2551G>T (p.Asp851Tyr) c.2686G>T (p.Asp896Tyr) c.2692G>T (p.Asp898Tyr) c.2608G>T (p.Asp870Tyr) c.2536G>T (p.Asp846Tyr) c.2470G>T (p.Asp824Tyr) c.1831G>T (p.Asp611Tyr) c.2449G>T (p.Asp817Tyr) | |
9 | g.137800980A>C | CA375789064 | EHMT1 | c.2708A>C (p.Asp903Ala) c.2594A>C (p.Asp865Ala) c.2615A>C (p.Asp872Ala) c.2748A>C (n.2748A>C) c.602A>C (p.Asp201Ala) c.386A>C (p.Asp129Ala) c.1565A>C (p.Asp522Ala) c.278A>C (p.Asp93Ala) c.286A>C n.234A>C c.2699A>C (p.Asp900Ala) c.2690A>C (p.Asp897Ala) c.2717A>C (p.Asp906Ala) c.2714A>C (p.Asp905Ala) c.2696A>C (p.Asp899Ala) c.2639A>C (p.Asp880Ala) c.2573A>C (p.Asp858Ala) c.1139A>C (p.Asp380Ala) c.491A>C (p.Asp164Ala) c.2552A>C (p.Asp851Ala) c.2687A>C (p.Asp896Ala) c.2693A>C (p.Asp898Ala) c.2609A>C (p.Asp870Ala) c.2537A>C (p.Asp846Ala) c.2471A>C (p.Asp824Ala) c.1832A>C (p.Asp611Ala) c.2450A>C (p.Asp817Ala) | |
9 | g.137800980A>G | CA375789065 | EHMT1 | c.2708A>G (p.Asp903Gly) c.2594A>G (p.Asp865Gly) c.2615A>G (p.Asp872Gly) c.2748A>G (n.2748A>G) c.602A>G (p.Asp201Gly) c.386A>G (p.Asp129Gly) c.1565A>G (p.Asp522Gly) c.278A>G (p.Asp93Gly) c.286A>G n.234A>G c.2699A>G (p.Asp900Gly) c.2690A>G (p.Asp897Gly) c.2717A>G (p.Asp906Gly) c.2714A>G (p.Asp905Gly) c.2696A>G (p.Asp899Gly) c.2639A>G (p.Asp880Gly) c.2573A>G (p.Asp858Gly) c.1139A>G (p.Asp380Gly) c.491A>G (p.Asp164Gly) c.2552A>G (p.Asp851Gly) c.2687A>G (p.Asp896Gly) c.2693A>G (p.Asp898Gly) c.2609A>G (p.Asp870Gly) c.2537A>G (p.Asp846Gly) c.2471A>G (p.Asp824Gly) c.1832A>G (p.Asp611Gly) c.2450A>G (p.Asp817Gly) | |
9 | g.137800980A>T | CA375789067 | EHMT1 | c.2708A>T (p.Asp903Val) c.2594A>T (p.Asp865Val) c.2615A>T (p.Asp872Val) c.2748A>T (n.2748A>T) c.602A>T (p.Asp201Val) c.386A>T (p.Asp129Val) c.1565A>T (p.Asp522Val) c.278A>T (p.Asp93Val) c.286A>T n.234A>T c.2699A>T (p.Asp900Val) c.2690A>T (p.Asp897Val) c.2717A>T (p.Asp906Val) c.2714A>T (p.Asp905Val) c.2696A>T (p.Asp899Val) c.2639A>T (p.Asp880Val) c.2573A>T (p.Asp858Val) c.1139A>T (p.Asp380Val) c.491A>T (p.Asp164Val) c.2552A>T (p.Asp851Val) c.2687A>T (p.Asp896Val) c.2693A>T (p.Asp898Val) c.2609A>T (p.Asp870Val) c.2537A>T (p.Asp846Val) c.2471A>T (p.Asp824Val) c.1832A>T (p.Asp611Val) c.2450A>T (p.Asp817Val) | |
9 | g.137800981C>A | CA375789068 | EHMT1 | c.2709C>A (p.Asp903Glu) c.2595C>A (p.Asp865Glu) c.2616C>A (p.Asp872Glu) c.2749C>A (n.2749C>A) c.603C>A (p.Asp201Glu) c.387C>A (p.Asp129Glu) c.1566C>A (p.Asp522Glu) c.279C>A (p.Asp93Glu) c.287C>A n.235C>A c.2700C>A (p.Asp900Glu) c.2691C>A (p.Asp897Glu) c.2718C>A (p.Asp906Glu) c.2715C>A (p.Asp905Glu) c.2697C>A (p.Asp899Glu) c.2640C>A (p.Asp880Glu) c.2574C>A (p.Asp858Glu) c.1140C>A (p.Asp380Glu) c.492C>A (p.Asp164Glu) c.2553C>A (p.Asp851Glu) c.2688C>A (p.Asp896Glu) c.2694C>A (p.Asp898Glu) c.2610C>A (p.Asp870Glu) c.2538C>A (p.Asp846Glu) c.2472C>A (p.Asp824Glu) c.1833C>A (p.Asp611Glu) c.2451C>A (p.Asp817Glu) | |
9 | g.137800981C>G | CA375789069 | EHMT1 | c.2709C>G (p.Asp903Glu) c.2595C>G (p.Asp865Glu) c.2616C>G (p.Asp872Glu) c.2749C>G (n.2749C>G) c.603C>G (p.Asp201Glu) c.387C>G (p.Asp129Glu) c.1566C>G (p.Asp522Glu) c.279C>G (p.Asp93Glu) c.287C>G n.235C>G c.2700C>G (p.Asp900Glu) c.2691C>G (p.Asp897Glu) c.2718C>G (p.Asp906Glu) c.2715C>G (p.Asp905Glu) c.2697C>G (p.Asp899Glu) c.2640C>G (p.Asp880Glu) c.2574C>G (p.Asp858Glu) c.1140C>G (p.Asp380Glu) c.492C>G (p.Asp164Glu) c.2553C>G (p.Asp851Glu) c.2688C>G (p.Asp896Glu) c.2694C>G (p.Asp898Glu) c.2610C>G (p.Asp870Glu) c.2538C>G (p.Asp846Glu) c.2472C>G (p.Asp824Glu) c.1833C>G (p.Asp611Glu) c.2451C>G (p.Asp817Glu) | |
9 | g.137800981C>T | CA467877681 | EHMT1 | c.2709C>T (p.Asp903=) c.2595C>T (p.Asp865=) c.2616C>T (p.Asp872=) c.2749C>T (n.2749C>T) c.603C>T (p.Asp201=) c.387C>T (p.Asp129=) c.1566C>T (p.Asp522=) c.279C>T (p.Asp93=) c.287C>T n.235C>T c.2700C>T (p.Asp900=) c.2691C>T (p.Asp897=) c.2718C>T (p.Asp906=) c.2715C>T (p.Asp905=) c.2697C>T (p.Asp899=) c.2640C>T (p.Asp880=) c.2574C>T (p.Asp858=) c.1140C>T (p.Asp380=) c.492C>T (p.Asp164=) c.2553C>T (p.Asp851=) c.2688C>T (p.Asp896=) c.2694C>T (p.Asp898=) c.2610C>T (p.Asp870=) c.2538C>T (p.Asp846=) c.2472C>T (p.Asp824=) c.1833C>T (p.Asp611=) c.2451C>T (p.Asp817=) | |
9 | g.137800982A>C | CA375789074 | EHMT1 | c.2710A>C (p.Asn904His) c.2596A>C (p.Asn866His) c.2617A>C (p.Asn873His) c.2750A>C (n.2750A>C) c.604A>C (p.Asn202His) c.388A>C (p.Asn130His) c.1567A>C (p.Asn523His) c.280A>C (p.Asn94His) c.288A>C n.236A>C c.2701A>C (p.Asn901His) c.2692A>C (p.Asn898His) c.2719A>C (p.Asn907His) c.2716A>C (p.Asn906His) c.2698A>C (p.Asn900His) c.2641A>C (p.Asn881His) c.2575A>C (p.Asn859His) c.1141A>C (p.Asn381His) c.493A>C (p.Asn165His) c.2554A>C (p.Asn852His) c.2689A>C (p.Asn897His) c.2695A>C (p.Asn899His) c.2611A>C (p.Asn871His) c.2539A>C (p.Asn847His) c.2473A>C (p.Asn825His) c.1834A>C (p.Asn612His) c.2452A>C (p.Asn818His) | |
9 | g.137800982A>G | CA375789072 | EHMT1 | c.2710A>G (p.Asn904Asp) c.2596A>G (p.Asn866Asp) c.2617A>G (p.Asn873Asp) c.2750A>G (n.2750A>G) c.604A>G (p.Asn202Asp) c.388A>G (p.Asn130Asp) c.1567A>G (p.Asn523Asp) c.280A>G (p.Asn94Asp) c.288A>G n.236A>G c.2701A>G (p.Asn901Asp) c.2692A>G (p.Asn898Asp) c.2719A>G (p.Asn907Asp) c.2716A>G (p.Asn906Asp) c.2698A>G (p.Asn900Asp) c.2641A>G (p.Asn881Asp) c.2575A>G (p.Asn859Asp) c.1141A>G (p.Asn381Asp) c.493A>G (p.Asn165Asp) c.2554A>G (p.Asn852Asp) c.2689A>G (p.Asn897Asp) c.2695A>G (p.Asn899Asp) c.2611A>G (p.Asn871Asp) c.2539A>G (p.Asn847Asp) c.2473A>G (p.Asn825Asp) c.1834A>G (p.Asn612Asp) c.2452A>G (p.Asn818Asp) | |
9 | g.137800982A>T | CA375789071 | EHMT1 | c.2710A>T (p.Asn904Tyr) c.2596A>T (p.Asn866Tyr) c.2617A>T (p.Asn873Tyr) c.2750A>T (n.2750A>T) c.604A>T (p.Asn202Tyr) c.388A>T (p.Asn130Tyr) c.1567A>T (p.Asn523Tyr) c.280A>T (p.Asn94Tyr) c.288A>T n.236A>T c.2701A>T (p.Asn901Tyr) c.2692A>T (p.Asn898Tyr) c.2719A>T (p.Asn907Tyr) c.2716A>T (p.Asn906Tyr) c.2698A>T (p.Asn900Tyr) c.2641A>T (p.Asn881Tyr) c.2575A>T (p.Asn859Tyr) c.1141A>T (p.Asn381Tyr) c.493A>T (p.Asn165Tyr) c.2554A>T (p.Asn852Tyr) c.2689A>T (p.Asn897Tyr) c.2695A>T (p.Asn899Tyr) c.2611A>T (p.Asn871Tyr) c.2539A>T (p.Asn847Tyr) c.2473A>T (p.Asn825Tyr) c.1834A>T (p.Asn612Tyr) c.2452A>T (p.Asn818Tyr) | |
9 | g.137800983A>C | CA375789076 | EHMT1 | c.2711A>C (p.Asn904Thr) c.2597A>C (p.Asn866Thr) c.2618A>C (p.Asn873Thr) c.2751A>C (n.2751A>C) c.605A>C (p.Asn202Thr) c.389A>C (p.Asn130Thr) c.1568A>C (p.Asn523Thr) c.281A>C (p.Asn94Thr) c.289A>C n.237A>C c.2702A>C (p.Asn901Thr) c.2693A>C (p.Asn898Thr) c.2720A>C (p.Asn907Thr) c.2717A>C (p.Asn906Thr) c.2699A>C (p.Asn900Thr) c.2642A>C (p.Asn881Thr) c.2576A>C (p.Asn859Thr) c.1142A>C (p.Asn381Thr) c.494A>C (p.Asn165Thr) c.2555A>C (p.Asn852Thr) c.2690A>C (p.Asn897Thr) c.2696A>C (p.Asn899Thr) c.2612A>C (p.Asn871Thr) c.2540A>C (p.Asn847Thr) c.2474A>C (p.Asn825Thr) c.1835A>C (p.Asn612Thr) c.2453A>C (p.Asn818Thr) | |
9 | g.137800983A>G | CA375789078 | EHMT1 | c.2711A>G (p.Asn904Ser) c.2597A>G (p.Asn866Ser) c.2618A>G (p.Asn873Ser) c.2751A>G (n.2751A>G) c.605A>G (p.Asn202Ser) c.389A>G (p.Asn130Ser) c.1568A>G (p.Asn523Ser) c.281A>G (p.Asn94Ser) c.289A>G n.237A>G c.2702A>G (p.Asn901Ser) c.2693A>G (p.Asn898Ser) c.2720A>G (p.Asn907Ser) c.2717A>G (p.Asn906Ser) c.2699A>G (p.Asn900Ser) c.2642A>G (p.Asn881Ser) c.2576A>G (p.Asn859Ser) c.1142A>G (p.Asn381Ser) c.494A>G (p.Asn165Ser) c.2555A>G (p.Asn852Ser) c.2690A>G (p.Asn897Ser) c.2696A>G (p.Asn899Ser) c.2612A>G (p.Asn871Ser) c.2540A>G (p.Asn847Ser) c.2474A>G (p.Asn825Ser) c.1835A>G (p.Asn612Ser) c.2453A>G (p.Asn818Ser) | |
9 | g.137800983A>T | CA375789079 | EHMT1 | c.2711A>T (p.Asn904Ile) c.2597A>T (p.Asn866Ile) c.2618A>T (p.Asn873Ile) c.2751A>T (n.2751A>T) c.605A>T (p.Asn202Ile) c.389A>T (p.Asn130Ile) c.1568A>T (p.Asn523Ile) c.281A>T (p.Asn94Ile) c.289A>T n.237A>T c.2702A>T (p.Asn901Ile) c.2693A>T (p.Asn898Ile) c.2720A>T (p.Asn907Ile) c.2717A>T (p.Asn906Ile) c.2699A>T (p.Asn900Ile) c.2642A>T (p.Asn881Ile) c.2576A>T (p.Asn859Ile) c.1142A>T (p.Asn381Ile) c.494A>T (p.Asn165Ile) c.2555A>T (p.Asn852Ile) c.2690A>T (p.Asn897Ile) c.2696A>T (p.Asn899Ile) c.2612A>T (p.Asn871Ile) c.2540A>T (p.Asn847Ile) c.2474A>T (p.Asn825Ile) c.1835A>T (p.Asn612Ile) c.2453A>T (p.Asn818Ile) | |
9 | g.137800984C>A | CA375789081 | EHMT1 | c.2712C>A (p.Asn904Lys) c.2598C>A (p.Asn866Lys) c.2619C>A (p.Asn873Lys) c.2752C>A (n.2752C>A) c.606C>A (p.Asn202Lys) c.390C>A (p.Asn130Lys) c.1569C>A (p.Asn523Lys) c.282C>A (p.Asn94Lys) c.290C>A n.238C>A c.2703C>A (p.Asn901Lys) c.2694C>A (p.Asn898Lys) c.2721C>A (p.Asn907Lys) c.2718C>A (p.Asn906Lys) c.2700C>A (p.Asn900Lys) c.2643C>A (p.Asn881Lys) c.2577C>A (p.Asn859Lys) c.1143C>A (p.Asn381Lys) c.495C>A (p.Asn165Lys) c.2556C>A (p.Asn852Lys) c.2691C>A (p.Asn897Lys) c.2697C>A (p.Asn899Lys) c.2613C>A (p.Asn871Lys) c.2541C>A (p.Asn847Lys) c.2475C>A (p.Asn825Lys) c.1836C>A (p.Asn612Lys) c.2454C>A (p.Asn818Lys) | |
9 | g.137800984C= | CA1884679293 | EHMT1 | c.2712C= (p.Asn904=) c.2598C= (p.Asn866=) c.2619C= (p.Asn873=) c.2752C= (n.2752C=) c.606C= (p.Asn202=) c.390C= (p.Asn130=) c.1569C= (p.Asn523=) c.282C= (p.Asn94=) c.290C= n.238C= c.2703C= (p.Asn901=) c.2694C= (p.Asn898=) c.2721C= (p.Asn907=) c.2718C= (p.Asn906=) c.2700C= (p.Asn900=) c.2643C= (p.Asn881=) c.2577C= (p.Asn859=) c.1143C= (p.Asn381=) c.495C= (p.Asn165=) c.2556C= (p.Asn852=) c.2691C= (p.Asn897=) c.2697C= (p.Asn899=) c.2613C= (p.Asn871=) c.2541C= (p.Asn847=) c.2475C= (p.Asn825=) c.1836C= (p.Asn612=) c.2454C= (p.Asn818=) | |
9 | g.137800984C>G | CA375789083 | EHMT1 | c.2712C>G (p.Asn904Lys) c.2598C>G (p.Asn866Lys) c.2619C>G (p.Asn873Lys) c.2752C>G (n.2752C>G) c.606C>G (p.Asn202Lys) c.390C>G (p.Asn130Lys) c.1569C>G (p.Asn523Lys) c.282C>G (p.Asn94Lys) c.290C>G n.238C>G c.2703C>G (p.Asn901Lys) c.2694C>G (p.Asn898Lys) c.2721C>G (p.Asn907Lys) c.2718C>G (p.Asn906Lys) c.2700C>G (p.Asn900Lys) c.2643C>G (p.Asn881Lys) c.2577C>G (p.Asn859Lys) c.1143C>G (p.Asn381Lys) c.495C>G (p.Asn165Lys) c.2556C>G (p.Asn852Lys) c.2691C>G (p.Asn897Lys) c.2697C>G (p.Asn899Lys) c.2613C>G (p.Asn871Lys) c.2541C>G (p.Asn847Lys) c.2475C>G (p.Asn825Lys) c.1836C>G (p.Asn612Lys) c.2454C>G (p.Asn818Lys) | |
9 | g.137800984C>T | CA5375024 | EHMT1 | c.2712C>T (p.Asn904=) c.2598C>T (p.Asn866=) c.2619C>T (p.Asn873=) c.2752C>T (n.2752C>T) c.606C>T (p.Asn202=) c.390C>T (p.Asn130=) c.1569C>T (p.Asn523=) c.282C>T (p.Asn94=) c.290C>T n.238C>T c.2703C>T (p.Asn901=) c.2694C>T (p.Asn898=) c.2721C>T (p.Asn907=) c.2718C>T (p.Asn906=) c.2700C>T (p.Asn900=) c.2643C>T (p.Asn881=) c.2577C>T (p.Asn859=) c.1143C>T (p.Asn381=) c.495C>T (p.Asn165=) c.2556C>T (p.Asn852=) c.2691C>T (p.Asn897=) c.2697C>T (p.Asn899=) c.2613C>T (p.Asn871=) c.2541C>T (p.Asn847=) c.2475C>T (p.Asn825=) c.1836C>T (p.Asn612=) c.2454C>T (p.Asn818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800987_137801015del | CA2573320291 | EHMT1 | c.2712+3_2712+31del c.2598+3_2598+31del c.2619+3_2619+31del c.2752+3_2752+31del c.606+3_606+31del c.390+3_390+31del c.1569+3_1569+31del c.282+3_282+31del c.290+3_290+31del n.238+3_238+31del c.2703+3_2703+31del c.2694+3_2694+31del c.2721+3_2721+31del c.2718+3_2718+31del c.2700+3_2700+31del c.2643+3_2643+31del c.2577+3_2577+31del c.1143+3_1143+31del c.495+3_495+31del c.2556+3_2556+31del c.2691+3_2691+31del c.2697+3_2697+31del c.2613+3_2613+31del c.2541+3_2541+31del c.2475+3_2475+31del c.1836+3_1836+31del c.2454+3_2454+31del | |
9 | g.137800985G>A | CA16043442 | EHMT1 | c.2712+1G>A (n.2712+1G>A) c.2598+1G>A (n.2598+1G>A) c.2619+1G>A (n.2619+1G>A) c.2752+1G>A (n.2752+1G>A) c.606+1G>A (n.606+1G>A) c.390+1G>A (n.390+1G>A) c.1569+1G>A (n.1569+1G>A) c.282+1G>A (n.282+1G>A) c.290+1G>A n.238+1G>A c.2703+1G>A (n.2703+1G>A) c.2694+1G>A (n.2694+1G>A) c.2721+1G>A (n.2721+1G>A) c.2718+1G>A (n.2718+1G>A) c.2700+1G>A (n.2700+1G>A) c.2643+1G>A (n.2643+1G>A) c.2577+1G>A (n.2577+1G>A) c.1143+1G>A (n.1143+1G>A) c.495+1G>A (n.495+1G>A) c.2556+1G>A (n.2556+1G>A) c.2691+1G>A (n.2691+1G>A) c.2697+1G>A (n.2697+1G>A) c.2613+1G>A (n.2613+1G>A) c.2541+1G>A (n.2541+1G>A) c.2475+1G>A (n.2475+1G>A) c.1836+1G>A (n.1836+1G>A) c.2454+1G>A (n.2454+1G>A) | ClinVar dbSNP COSMIC COSMIC |
9 | g.137800985G>C | CA16618819 | EHMT1 | c.2712+1G>C (n.2712+1G>C) c.2598+1G>C (n.2598+1G>C) c.2619+1G>C (n.2619+1G>C) c.2752+1G>C (n.2752+1G>C) c.606+1G>C (n.606+1G>C) c.390+1G>C (n.390+1G>C) c.1569+1G>C (n.1569+1G>C) c.282+1G>C (n.282+1G>C) c.290+1G>C n.238+1G>C c.2703+1G>C (n.2703+1G>C) c.2694+1G>C (n.2694+1G>C) c.2721+1G>C (n.2721+1G>C) c.2718+1G>C (n.2718+1G>C) c.2700+1G>C (n.2700+1G>C) c.2643+1G>C (n.2643+1G>C) c.2577+1G>C (n.2577+1G>C) c.1143+1G>C (n.1143+1G>C) c.495+1G>C (n.495+1G>C) c.2556+1G>C (n.2556+1G>C) c.2691+1G>C (n.2691+1G>C) c.2697+1G>C (n.2697+1G>C) c.2613+1G>C (n.2613+1G>C) c.2541+1G>C (n.2541+1G>C) c.2475+1G>C (n.2475+1G>C) c.1836+1G>C (n.1836+1G>C) c.2454+1G>C (n.2454+1G>C) | ClinVar dbSNP |
9 | g.137800985G= | CA1884679294 | EHMT1 | c.2712+1G= (n.2712+1G=) c.2598+1G= (n.2598+1G=) c.2619+1G= (n.2619+1G=) c.2752+1G= (n.2752+1G=) c.606+1G= (n.606+1G=) c.390+1G= (n.390+1G=) c.1569+1G= (n.1569+1G=) c.282+1G= (n.282+1G=) c.290+1G= n.238+1G= c.2703+1G= (n.2703+1G=) c.2694+1G= (n.2694+1G=) c.2721+1G= (n.2721+1G=) c.2718+1G= (n.2718+1G=) c.2700+1G= (n.2700+1G=) c.2643+1G= (n.2643+1G=) c.2577+1G= (n.2577+1G=) c.1143+1G= (n.1143+1G=) c.495+1G= (n.495+1G=) c.2556+1G= (n.2556+1G=) c.2691+1G= (n.2691+1G=) c.2697+1G= (n.2697+1G=) c.2613+1G= (n.2613+1G=) c.2541+1G= (n.2541+1G=) c.2475+1G= (n.2475+1G=) c.1836+1G= (n.1836+1G=) c.2454+1G= (n.2454+1G=) | |
9 | g.137800985G>T | CA375789085 | EHMT1 | c.2712+1G>T (n.2712+1G>T) c.2598+1G>T (n.2598+1G>T) c.2619+1G>T (n.2619+1G>T) c.2752+1G>T (n.2752+1G>T) c.606+1G>T (n.606+1G>T) c.390+1G>T (n.390+1G>T) c.1569+1G>T (n.1569+1G>T) c.282+1G>T (n.282+1G>T) c.290+1G>T n.238+1G>T c.2703+1G>T (n.2703+1G>T) c.2694+1G>T (n.2694+1G>T) c.2721+1G>T (n.2721+1G>T) c.2718+1G>T (n.2718+1G>T) c.2700+1G>T (n.2700+1G>T) c.2643+1G>T (n.2643+1G>T) c.2577+1G>T (n.2577+1G>T) c.1143+1G>T (n.1143+1G>T) c.495+1G>T (n.495+1G>T) c.2556+1G>T (n.2556+1G>T) c.2691+1G>T (n.2691+1G>T) c.2697+1G>T (n.2697+1G>T) c.2613+1G>T (n.2613+1G>T) c.2541+1G>T (n.2541+1G>T) c.2475+1G>T (n.2475+1G>T) c.1836+1G>T (n.1836+1G>T) c.2454+1G>T (n.2454+1G>T) | |
9 | g.137800986T>A | CA375789087 | EHMT1 | c.2712+2T>A (n.2712+2T>A) c.2598+2T>A (n.2598+2T>A) c.2619+2T>A (n.2619+2T>A) c.2752+2T>A (n.2752+2T>A) c.606+2T>A (n.606+2T>A) c.390+2T>A (n.390+2T>A) c.1569+2T>A (n.1569+2T>A) c.282+2T>A (n.282+2T>A) c.290+2T>A n.238+2T>A c.2703+2T>A (n.2703+2T>A) c.2694+2T>A (n.2694+2T>A) c.2721+2T>A (n.2721+2T>A) c.2718+2T>A (n.2718+2T>A) c.2700+2T>A (n.2700+2T>A) c.2643+2T>A (n.2643+2T>A) c.2577+2T>A (n.2577+2T>A) c.1143+2T>A (n.1143+2T>A) c.495+2T>A (n.495+2T>A) c.2556+2T>A (n.2556+2T>A) c.2691+2T>A (n.2691+2T>A) c.2697+2T>A (n.2697+2T>A) c.2613+2T>A (n.2613+2T>A) c.2541+2T>A (n.2541+2T>A) c.2475+2T>A (n.2475+2T>A) c.1836+2T>A (n.1836+2T>A) c.2454+2T>A (n.2454+2T>A) | |
9 | g.137800986T>C | CA375789088 | EHMT1 | c.2712+2T>C (n.2712+2T>C) c.2598+2T>C (n.2598+2T>C) c.2619+2T>C (n.2619+2T>C) c.2752+2T>C (n.2752+2T>C) c.606+2T>C (n.606+2T>C) c.390+2T>C (n.390+2T>C) c.1569+2T>C (n.1569+2T>C) c.282+2T>C (n.282+2T>C) c.290+2T>C n.238+2T>C c.2703+2T>C (n.2703+2T>C) c.2694+2T>C (n.2694+2T>C) c.2721+2T>C (n.2721+2T>C) c.2718+2T>C (n.2718+2T>C) c.2700+2T>C (n.2700+2T>C) c.2643+2T>C (n.2643+2T>C) c.2577+2T>C (n.2577+2T>C) c.1143+2T>C (n.1143+2T>C) c.495+2T>C (n.495+2T>C) c.2556+2T>C (n.2556+2T>C) c.2691+2T>C (n.2691+2T>C) c.2697+2T>C (n.2697+2T>C) c.2613+2T>C (n.2613+2T>C) c.2541+2T>C (n.2541+2T>C) c.2475+2T>C (n.2475+2T>C) c.1836+2T>C (n.1836+2T>C) c.2454+2T>C (n.2454+2T>C) | |
9 | g.137800986T>G | CA375789089 | EHMT1 | c.2712+2T>G (n.2712+2T>G) c.2598+2T>G (n.2598+2T>G) c.2619+2T>G (n.2619+2T>G) c.2752+2T>G (n.2752+2T>G) c.606+2T>G (n.606+2T>G) c.390+2T>G (n.390+2T>G) c.1569+2T>G (n.1569+2T>G) c.282+2T>G (n.282+2T>G) c.290+2T>G n.238+2T>G c.2703+2T>G (n.2703+2T>G) c.2694+2T>G (n.2694+2T>G) c.2721+2T>G (n.2721+2T>G) c.2718+2T>G (n.2718+2T>G) c.2700+2T>G (n.2700+2T>G) c.2643+2T>G (n.2643+2T>G) c.2577+2T>G (n.2577+2T>G) c.1143+2T>G (n.1143+2T>G) c.495+2T>G (n.495+2T>G) c.2556+2T>G (n.2556+2T>G) c.2691+2T>G (n.2691+2T>G) c.2697+2T>G (n.2697+2T>G) c.2613+2T>G (n.2613+2T>G) c.2541+2T>G (n.2541+2T>G) c.2475+2T>G (n.2475+2T>G) c.1836+2T>G (n.1836+2T>G) c.2454+2T>G (n.2454+2T>G) | |
9 | g.137800986dup | CA918580785 | EHMT1 | c.2712+2dup (n.2712+2dup) c.2598+2dup (n.2598+2dup) c.2619+2dup (n.2619+2dup) c.2752+2dup (n.2752+2dup) c.606+2dup (n.606+2dup) c.390+2dup (n.390+2dup) c.1569+2dup (n.1569+2dup) c.282+2dup (n.282+2dup) c.290+2dup n.238+2dup c.2703+2dup (n.2703+2dup) c.2694+2dup (n.2694+2dup) c.2721+2dup (n.2721+2dup) c.2718+2dup (n.2718+2dup) c.2700+2dup (n.2700+2dup) c.2643+2dup (n.2643+2dup) c.2577+2dup (n.2577+2dup) c.1143+2dup (n.1143+2dup) c.495+2dup (n.495+2dup) c.2556+2dup (n.2556+2dup) c.2691+2dup (n.2691+2dup) c.2697+2dup (n.2697+2dup) c.2613+2dup (n.2613+2dup) c.2541+2dup (n.2541+2dup) c.2475+2dup (n.2475+2dup) c.1836+2dup (n.1836+2dup) c.2454+2dup (n.2454+2dup) | ClinVar dbSNP gnomAD v4 |
9 | g.137800987A>G | CA2692889260 | EHMT1 | c.2712+3A>G (n.2712+3A>G) c.2598+3A>G (n.2598+3A>G) c.2619+3A>G (n.2619+3A>G) c.2752+3A>G (n.2752+3A>G) c.606+3A>G (n.606+3A>G) c.390+3A>G (n.390+3A>G) c.1569+3A>G (n.1569+3A>G) c.282+3A>G (n.282+3A>G) c.290+3A>G n.238+3A>G c.2703+3A>G (n.2703+3A>G) c.2694+3A>G (n.2694+3A>G) c.2721+3A>G (n.2721+3A>G) c.2718+3A>G (n.2718+3A>G) c.2700+3A>G (n.2700+3A>G) c.2643+3A>G (n.2643+3A>G) c.2577+3A>G (n.2577+3A>G) c.1143+3A>G (n.1143+3A>G) c.495+3A>G (n.495+3A>G) c.2556+3A>G (n.2556+3A>G) c.2691+3A>G (n.2691+3A>G) c.2697+3A>G (n.2697+3A>G) c.2613+3A>G (n.2613+3A>G) c.2541+3A>G (n.2541+3A>G) c.2475+3A>G (n.2475+3A>G) c.1836+3A>G (n.1836+3A>G) c.2454+3A>G (n.2454+3A>G) | gnomAD v4 |
9 | g.137800989G>C | CA2573144342 | EHMT1 | c.2712+5G>C (n.2712+5G>C) c.2598+5G>C (n.2598+5G>C) c.2619+5G>C (n.2619+5G>C) c.2752+5G>C (n.2752+5G>C) c.606+5G>C (n.606+5G>C) c.390+5G>C (n.390+5G>C) c.1569+5G>C (n.1569+5G>C) c.282+5G>C (n.282+5G>C) c.290+5G>C n.238+5G>C c.2703+5G>C (n.2703+5G>C) c.2694+5G>C (n.2694+5G>C) c.2721+5G>C (n.2721+5G>C) c.2718+5G>C (n.2718+5G>C) c.2700+5G>C (n.2700+5G>C) c.2643+5G>C (n.2643+5G>C) c.2577+5G>C (n.2577+5G>C) c.1143+5G>C (n.1143+5G>C) c.495+5G>C (n.495+5G>C) c.2556+5G>C (n.2556+5G>C) c.2691+5G>C (n.2691+5G>C) c.2697+5G>C (n.2697+5G>C) c.2613+5G>C (n.2613+5G>C) c.2541+5G>C (n.2541+5G>C) c.2475+5G>C (n.2475+5G>C) c.1836+5G>C (n.1836+5G>C) c.2454+5G>C (n.2454+5G>C) | ClinVar dbSNP |
9 | g.137800991T>G | CA2573144343 | EHMT1 | c.2712+7T>G (n.2712+7T>G) c.2598+7T>G (n.2598+7T>G) c.2619+7T>G (n.2619+7T>G) c.2752+7T>G (n.2752+7T>G) c.606+7T>G (n.606+7T>G) c.390+7T>G (n.390+7T>G) c.1569+7T>G (n.1569+7T>G) c.282+7T>G (n.282+7T>G) c.290+7T>G n.238+7T>G c.2703+7T>G (n.2703+7T>G) c.2694+7T>G (n.2694+7T>G) c.2721+7T>G (n.2721+7T>G) c.2718+7T>G (n.2718+7T>G) c.2700+7T>G (n.2700+7T>G) c.2643+7T>G (n.2643+7T>G) c.2577+7T>G (n.2577+7T>G) c.1143+7T>G (n.1143+7T>G) c.495+7T>G (n.495+7T>G) c.2556+7T>G (n.2556+7T>G) c.2691+7T>G (n.2691+7T>G) c.2697+7T>G (n.2697+7T>G) c.2613+7T>G (n.2613+7T>G) c.2541+7T>G (n.2541+7T>G) c.2475+7T>G (n.2475+7T>G) c.1836+7T>G (n.1836+7T>G) c.2454+7T>G (n.2454+7T>G) | ClinVar dbSNP |
9 | g.137800992C= | CA1884679295 | EHMT1 | c.2712+8C= (n.2712+8C=) c.2598+8C= (n.2598+8C=) c.2619+8C= (n.2619+8C=) c.2752+8C= (n.2752+8C=) c.606+8C= (n.606+8C=) c.390+8C= (n.390+8C=) c.1569+8C= (n.1569+8C=) c.282+8C= (n.282+8C=) c.290+8C= n.238+8C= c.2703+8C= (n.2703+8C=) c.2694+8C= (n.2694+8C=) c.2721+8C= (n.2721+8C=) c.2718+8C= (n.2718+8C=) c.2700+8C= (n.2700+8C=) c.2643+8C= (n.2643+8C=) c.2577+8C= (n.2577+8C=) c.1143+8C= (n.1143+8C=) c.495+8C= (n.495+8C=) c.2556+8C= (n.2556+8C=) c.2691+8C= (n.2691+8C=) c.2697+8C= (n.2697+8C=) c.2613+8C= (n.2613+8C=) c.2541+8C= (n.2541+8C=) c.2475+8C= (n.2475+8C=) c.1836+8C= (n.1836+8C=) c.2454+8C= (n.2454+8C=) | |
9 | g.137800992C>G | CA2692889261 | EHMT1 | c.2712+8C>G (n.2712+8C>G) c.2598+8C>G (n.2598+8C>G) c.2619+8C>G (n.2619+8C>G) c.2752+8C>G (n.2752+8C>G) c.606+8C>G (n.606+8C>G) c.390+8C>G (n.390+8C>G) c.1569+8C>G (n.1569+8C>G) c.282+8C>G (n.282+8C>G) c.290+8C>G n.238+8C>G c.2703+8C>G (n.2703+8C>G) c.2694+8C>G (n.2694+8C>G) c.2721+8C>G (n.2721+8C>G) c.2718+8C>G (n.2718+8C>G) c.2700+8C>G (n.2700+8C>G) c.2643+8C>G (n.2643+8C>G) c.2577+8C>G (n.2577+8C>G) c.1143+8C>G (n.1143+8C>G) c.495+8C>G (n.495+8C>G) c.2556+8C>G (n.2556+8C>G) c.2691+8C>G (n.2691+8C>G) c.2697+8C>G (n.2697+8C>G) c.2613+8C>G (n.2613+8C>G) c.2541+8C>G (n.2541+8C>G) c.2475+8C>G (n.2475+8C>G) c.1836+8C>G (n.1836+8C>G) c.2454+8C>G (n.2454+8C>G) | gnomAD v4 |
9 | g.137800992C>T | CA5375025 | EHMT1 | c.2712+8C>T (n.2712+8C>T) c.2598+8C>T (n.2598+8C>T) c.2619+8C>T (n.2619+8C>T) c.2752+8C>T (n.2752+8C>T) c.606+8C>T (n.606+8C>T) c.390+8C>T (n.390+8C>T) c.1569+8C>T (n.1569+8C>T) c.282+8C>T (n.282+8C>T) c.290+8C>T n.238+8C>T c.2703+8C>T (n.2703+8C>T) c.2694+8C>T (n.2694+8C>T) c.2721+8C>T (n.2721+8C>T) c.2718+8C>T (n.2718+8C>T) c.2700+8C>T (n.2700+8C>T) c.2643+8C>T (n.2643+8C>T) c.2577+8C>T (n.2577+8C>T) c.1143+8C>T (n.1143+8C>T) c.495+8C>T (n.495+8C>T) c.2556+8C>T (n.2556+8C>T) c.2691+8C>T (n.2691+8C>T) c.2697+8C>T (n.2697+8C>T) c.2613+8C>T (n.2613+8C>T) c.2541+8C>T (n.2541+8C>T) c.2475+8C>T (n.2475+8C>T) c.1836+8C>T (n.1836+8C>T) c.2454+8C>T (n.2454+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800993G>A | CA208814 | EHMT1 | c.2712+9G>A (n.2712+9G>A) c.2598+9G>A (n.2598+9G>A) c.2619+9G>A (n.2619+9G>A) c.2752+9G>A (n.2752+9G>A) c.606+9G>A (n.606+9G>A) c.390+9G>A (n.390+9G>A) c.1569+9G>A (n.1569+9G>A) c.282+9G>A (n.282+9G>A) c.290+9G>A n.238+9G>A c.2703+9G>A (n.2703+9G>A) c.2694+9G>A (n.2694+9G>A) c.2721+9G>A (n.2721+9G>A) c.2718+9G>A (n.2718+9G>A) c.2700+9G>A (n.2700+9G>A) c.2643+9G>A (n.2643+9G>A) c.2577+9G>A (n.2577+9G>A) c.1143+9G>A (n.1143+9G>A) c.495+9G>A (n.495+9G>A) c.2556+9G>A (n.2556+9G>A) c.2691+9G>A (n.2691+9G>A) c.2697+9G>A (n.2697+9G>A) c.2613+9G>A (n.2613+9G>A) c.2541+9G>A (n.2541+9G>A) c.2475+9G>A (n.2475+9G>A) c.1836+9G>A (n.1836+9G>A) c.2454+9G>A (n.2454+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800993G= | CA1884679296 | EHMT1 | c.2712+9G= (n.2712+9G=) c.2598+9G= (n.2598+9G=) c.2619+9G= (n.2619+9G=) c.2752+9G= (n.2752+9G=) c.606+9G= (n.606+9G=) c.390+9G= (n.390+9G=) c.1569+9G= (n.1569+9G=) c.282+9G= (n.282+9G=) c.290+9G= n.238+9G= c.2703+9G= (n.2703+9G=) c.2694+9G= (n.2694+9G=) c.2721+9G= (n.2721+9G=) c.2718+9G= (n.2718+9G=) c.2700+9G= (n.2700+9G=) c.2643+9G= (n.2643+9G=) c.2577+9G= (n.2577+9G=) c.1143+9G= (n.1143+9G=) c.495+9G= (n.495+9G=) c.2556+9G= (n.2556+9G=) c.2691+9G= (n.2691+9G=) c.2697+9G= (n.2697+9G=) c.2613+9G= (n.2613+9G=) c.2541+9G= (n.2541+9G=) c.2475+9G= (n.2475+9G=) c.1836+9G= (n.1836+9G=) c.2454+9G= (n.2454+9G=) |