Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137800894G>ACA16605814EHMT1c.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
9g.137800894G>CCA375788743EHMT1c.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)
9g.137800894G=CA1884679266EHMT1c.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=)
9g.137800894G>TCA375788744EHMT1c.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)
9g.137800895A>CCA375788745EHMT1c.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)
9g.137800895A>GCA375788746EHMT1c.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)
9g.137800895A>TCA375788748EHMT1c.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)
9g.137800896C>ACA375788750EHMT1c.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)
9g.137800896C=CA1884679267EHMT1c.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=)
9g.137800896C>GCA375788752EHMT1c.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
9g.137800896C>TCA375788753EHMT1c.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)
9g.137800897delCA2573144345EHMT1c.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
9g.137800897A>CCA467877592EHMT1c.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=)
9g.137800897A>GCA467877593EHMT1c.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=)
9g.137800897A>TCA467877594EHMT1c.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=)
9g.137800898C>ACA375788755EHMT1c.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)
9g.137800898C=CA1884679268EHMT1c.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=)
9g.137800898C>GCA375788758EHMT1c.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)
9g.137800898C>TCA5375017EHMT1c.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
9g.137800899C>ACA375788759EHMT1c.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)
9g.137800899C>GCA375788760EHMT1c.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)
9g.137800899C>TCA375788761EHMT1c.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)
9g.137800900C>ACA467877599EHMT1c.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
9g.137800900C=CA1884679269EHMT1c.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=)
9g.137800900C>GCA467877601EHMT1c.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=)
9g.137800900C>TCA5375018EHMT1c.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
9g.137800901A=CA1884679270EHMT1c.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=)
9g.137800901A>CCA375788763EHMT1c.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)
9g.137800901A>GCA375788764EHMT1c.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
9g.137800901A>TCA375788765EHMT1c.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)
9g.137800902T>ACA375788767EHMT1c.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)
9g.137800902T>CCA375788768EHMT1c.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)
9g.137800902T>GCA375788770EHMT1c.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)
9g.137800903G>ACA375788771EHMT1c.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
9g.137800903G>CCA375788773EHMT1c.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)
9g.137800903G>TCA375788774EHMT1c.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)
9g.137800904A>CCA375788776EHMT1c.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)
9g.137800904A>GCA375788780EHMT1c.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)
9g.137800904A>TCA375788778EHMT1c.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)
9g.137800905T>ACA375788782EHMT1c.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)
9g.137800905T>CCA375788784EHMT1c.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
9g.137800905T>GCA375788786EHMT1c.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)
9g.137800906C>ACA467877607EHMT1c.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=)
9g.137800906C=CA1884679271EHMT1c.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=)
9g.137800906C>GCA375788788EHMT1c.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)
9g.137800906C>TCA5375019EHMT1c.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
9g.137800907T>ACA375788790EHMT1c.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)
9g.137800907T>CCA375788791EHMT1c.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)
9g.137800907T>GCA375788793EHMT1c.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)
9g.137800908G>ACA375788795EHMT1c.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)
9g.137800908G>CCA375788796EHMT1c.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)
9g.137800908G>TCA375788798EHMT1c.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)
9g.137800909G>ACA375788803EHMT1c.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)
9g.137800909G>CCA375788804EHMT1c.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)
9g.137800909G>TCA375788802EHMT1c.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)
9g.137800910G>ACA375788807EHMT1c.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)
9g.137800910G>CCA375788806EHMT1c.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)
9g.137800910G>TCA375788808EHMT1c.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)
9g.137800911C>ACA375788810EHMT1c.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)
9g.137800911C>GCA375788813EHMT1c.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)
9g.137800911C>TCA375788811EHMT1c.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)
9g.137800912C>ACA467877609EHMT1c.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=)
9g.137800912C>GCA467877611EHMT1c.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=)
9g.137800912C>TCA467877610EHMT1c.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=)
9g.137800913A=CA1884679272EHMT1c.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=)
9g.137800913A>CCA375788815EHMT1c.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)
9g.137800913A>GCA375788819EHMT1c.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
9g.137800913A>TCA375788816EHMT1c.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)
9g.137800914C>ACA375788821EHMT1c.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)
9g.137800914C=CA1884679273EHMT1c.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=)
9g.137800914C>GCA375788823EHMT1c.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)
9g.137800914C>TCA207397EHMT1c.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
9g.137800915A>CCA467877614EHMT1c.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=)
9g.137800915A>GCA467877615EHMT1c.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
9g.137800915A>TCA467877617EHMT1c.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=)
9g.137800916G>ACA375788826EHMT1c.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)
9g.137800916G>CCA375788827EHMT1c.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)
9g.137800916G>TCA375788828EHMT1c.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)
9g.137800917A>CCA375788830EHMT1c.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)
9g.137800917A>GCA375788832EHMT1c.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)
9g.137800917A>TCA375788833EHMT1c.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)
9g.137800918G>ACA467877618EHMT1c.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
9g.137800918G>CCA375788835EHMT1c.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)
9g.137800918G>TCA375788840EHMT1c.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)
9g.137800919T>ACA375788846EHMT1c.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)
9g.137800919T>CCA375788842EHMT1c.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)
9g.137800919T>GCA375788844EHMT1c.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)
9g.137800920A>CCA375788848EHMT1c.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)
9g.137800920A>GCA375788850EHMT1c.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)
9g.137800920A>TCA375788852EHMT1c.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)
9g.137800921C>ACA375788853EHMT1c.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
9g.137800921C=CA1884679274EHMT1c.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=)
9g.137800921C>GCA375788854EHMT1c.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)
9g.137800921C>TCA467877622EHMT1c.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
9g.137800922A>CCA375788855EHMT1c.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)
9g.137800922A>GCA375788856EHMT1c.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)
9g.137800922A>TCA375788857EHMT1c.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)
9g.137800923A>CCA375788859EHMT1c.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)
9g.137800923A>GCA375788861EHMT1c.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
9g.137800923A>TCA375788863EHMT1c.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)
9g.137800924G>ACA467877623EHMT1c.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
9g.137800924G>CCA375788865EHMT1c.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)
9g.137800924G=CA1884679275EHMT1c.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=)
9g.137800924G>TCA375788867EHMT1c.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)
9g.137800925C>ACA375788868EHMT1c.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)
9g.137800925C>GCA375788869EHMT1c.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)
9g.137800925C>TCA375788870EHMT1c.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)
9g.137800926A>CCA375788872EHMT1c.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)
9g.137800926A>GCA375788874EHMT1c.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)
9g.137800926A>TCA375788876EHMT1c.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)
9g.137800927C>ACA375788877EHMT1c.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)
9g.137800927C=CA1884679276EHMT1c.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=)
9g.137800927C>GCA375788879EHMT1c.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)
9g.137800927C>TCA201832995EHMT1c.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
9g.137800928G>ACA5375020EHMT1c.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
9g.137800928G>CCA375788881EHMT1c.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)
9g.137800928G=CA1884679277EHMT1c.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=)
9g.137800928G>TCA375788882EHMT1c.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
9g.137800929T>ACA375788889EHMT1c.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)
9g.137800929T>CCA375788887EHMT1c.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
9g.137800929T>GCA375788884EHMT1c.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)
9g.137800930G>ACA467877627EHMT1c.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=)
9g.137800930G>CCA467877628EHMT1c.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=)
9g.137800930G>TCA467877630EHMT1c.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=)
9g.137800931G>ACA375788891EHMT1c.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)
9g.137800931G>CCA375788892EHMT1c.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)
9g.137800931G>TCA375788895EHMT1c.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)
9g.137800932A=CA1884679278EHMT1c.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=)
9g.137800932A>CCA375788897EHMT1c.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
9g.137800932A>GCA375788898EHMT1c.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)
9g.137800932A>TCA375788900EHMT1c.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)
9g.137800933C>ACA375788901EHMT1c.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
9g.137800933C=CA1884679279EHMT1c.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=)
9g.137800933C>GCA375788903EHMT1c.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)
9g.137800933C>TCA5375021EHMT1c.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
9g.137800934C>ACA375788906EHMT1c.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)
9g.137800934C>GCA375788908EHMT1c.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)
9g.137800934C>TCA375788909EHMT1c.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)
9g.137800935T>ACA375788911EHMT1c.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)
9g.137800935T>CCA375788913EHMT1c.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)
9g.137800935T>GCA375788910EHMT1c.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)
9g.137800936C>ACA467877634EHMT1c.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=)
9g.137800936C=CA1884679280EHMT1c.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=)
9g.137800936C>GCA467877635EHMT1c.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
9g.137800936C>TCA5375022EHMT1c.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
9g.137800937G>ACA5375023EHMT1c.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
9g.137800937G>CCA375788917EHMT1c.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)
9g.137800937G=CA1884679281EHMT1c.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=)
9g.137800937G>TCA375788918EHMT1c.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)
9g.137800938T>ACA375788920EHMT1c.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)
9g.137800938T>CCA375788922EHMT1c.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)
9g.137800938T>GCA375788924EHMT1c.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
9g.137800939G>ACA467877638EHMT1c.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
9g.137800939G>CCA467877640EHMT1c.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
9g.137800939G>TCA467877639EHMT1c.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=)
9g.137800940A>CCA375788925EHMT1c.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)
9g.137800940A>GCA375788927EHMT1c.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
9g.137800940A>TCA375788929EHMT1c.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)
9g.137800941A>CCA375788931EHMT1c.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)
9g.137800941A>GCA375788932EHMT1c.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)
9g.137800941A>TCA375788934EHMT1c.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)
9g.137800942G>ACA467877642EHMT1c.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=)
9g.137800942G>CCA375788938EHMT1c.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)
9g.137800942G=CA1884679282EHMT1c.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=)
9g.137800942G>TCA375788936EHMT1c.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
9g.137800943C>ACA375788940EHMT1c.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)
9g.137800943C>GCA375788941EHMT1c.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)
9g.137800943C>TCA467877643EHMT1c.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=)
9g.137800944T>ACA375788943EHMT1c.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)
9g.137800944T>CCA375788944EHMT1c.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
9g.137800944T>GCA375788946EHMT1c.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)
9g.137800945G>ACA467877644EHMT1c.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=)
9g.137800945G>CCA467877646EHMT1c.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=)
9g.137800945G>TCA467877645EHMT1c.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=)
9g.137800946C>ACA375788947EHMT1c.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)
9g.137800946C>GCA375788948EHMT1c.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)
9g.137800946C>TCA467877647EHMT1c.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=)
9g.137800947T>ACA375788950EHMT1c.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)
9g.137800947T>CCA375788951EHMT1c.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)
9g.137800947T>GCA375788953EHMT1c.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)
9g.137800948G>ACA467877648EHMT1c.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=)
9g.137800948G>CCA467877649EHMT1c.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=)
9g.137800948G>TCA467877650EHMT1c.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=)
9g.137800949C>ACA375788955EHMT1c.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)
9g.137800949C>GCA375788957EHMT1c.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)
9g.137800949C>TCA467877651EHMT1c.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
9g.137800950T>ACA375788959EHMT1c.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)
9g.137800950T>CCA375788961EHMT1c.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)
9g.137800950T>GCA375788958EHMT1c.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)
9g.137800951G>ACA467877654EHMT1c.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=)
9g.137800951G>CCA467877656EHMT1c.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=)
9g.137800951G>TCA467877657EHMT1c.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=)
9g.137800952T>ACA375788962EHMT1c.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)
9g.137800952T>CCA375788964EHMT1c.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)
9g.137800952T>GCA375788965EHMT1c.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)
9g.137800953C>ACA375788967EHMT1c.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)
9g.137800953C>GCA375788969EHMT1c.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)
9g.137800953C>TCA375788970EHMT1c.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)
9g.137800954C>ACA467877660EHMT1c.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=)
9g.137800954C=CA1884679283EHMT1c.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=)
9g.137800954C>GCA467877658EHMT1c.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=)
9g.137800954C>TCA467877659EHMT1c.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
9g.137800955A=CA1884679284EHMT1c.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=)
9g.137800955A>CCA375788974EHMT1c.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)
9g.137800955A>GCA375788972EHMT1c.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
9g.137800955A>TCA375788973EHMT1c.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)
9g.137800956A>CCA375788976EHMT1c.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)
9g.137800956A>GCA375788977EHMT1c.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
9g.137800956A>TCA375788978EHMT1c.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)
9g.137800957G>ACA467877661EHMT1c.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
9g.137800957G>CCA375788980EHMT1c.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
9g.137800957G=CA1884679285EHMT1c.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=)
9g.137800957G>TCA375788982EHMT1c.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)
9g.137800958G>ACA375788983EHMT1c.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
9g.137800958G>CCA375788987EHMT1c.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)
9g.137800958G=CA1884679286EHMT1c.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=)
9g.137800958G>TCA375788985EHMT1c.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)
9g.137800959G>ACA375788988EHMT1c.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
9g.137800959G>CCA375788990EHMT1c.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)
9g.137800959G=CA1884679287EHMT1c.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=)
9g.137800959G>TCA375788991EHMT1c.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)
9g.137800960C>ACA467877662EHMT1c.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=)
9g.137800960C=CA1884679288EHMT1c.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=)
9g.137800960C>GCA467877663EHMT1c.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=)
9g.137800960C>TCA467877664EHMT1c.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
9g.137800961T>ACA375788993EHMT1c.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)
9g.137800961T>CCA375788994EHMT1c.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)
9g.137800961T>GCA375788995EHMT1c.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)
9g.137800962C>ACA375788998EHMT1c.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)
9g.137800962C>GCA375789000EHMT1c.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
9g.137800962C>TCA375789001EHMT1c.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)
9g.137800963T>ACA467877666EHMT1c.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=)
9g.137800963T>CCA467877667EHMT1c.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=)
9g.137800963T>GCA241100EHMT1c.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
9g.137800963T=CA1884679289EHMT1c.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=)
9g.137800964G>ACA375789004EHMT1c.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
9g.137800964G>CCA375789006EHMT1c.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)
9g.137800964G>TCA375789007EHMT1c.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)
9g.137800965A>CCA375789011EHMT1c.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)
9g.137800965A>GCA375789012EHMT1c.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)
9g.137800965A>TCA375789009EHMT1c.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)
9g.137800966C>ACA375789016EHMT1c.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)
9g.137800966C>GCA375789014EHMT1c.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)
9g.137800966C>TCA467877668EHMT1c.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=)
9g.137800967A=CA1884679290EHMT1c.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=)
9g.137800967A>CCA375789020EHMT1c.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)
9g.137800967A>GCA241102EHMT1c.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
9g.137800967A>TCA375789018EHMT1c.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)
9g.137800968T>ACA375789021EHMT1c.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)
9g.137800968T>CCA375789023EHMT1c.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)
9g.137800968T>GCA375789024EHMT1c.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)
9g.137800969C>ACA467877672EHMT1c.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
9g.137800969C>GCA375789026EHMT1c.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)
9g.137800969C>TCA467877673EHMT1c.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=)
9g.137800970A>CCA375789028EHMT1c.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)
9g.137800970A>GCA375789030EHMT1c.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)
9g.137800970A>TCA375789031EHMT1c.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)
9g.137800971A>CCA375789033EHMT1c.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)
9g.137800971A>GCA375789034EHMT1c.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
9g.137800971A>TCA375789036EHMT1c.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)
9g.137800972C>ACA375789039EHMT1c.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)
9g.137800972C>GCA375789038EHMT1c.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)
9g.137800972C>TCA467877674EHMT1c.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=)
9g.137800973A>CCA375789041EHMT1c.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)
9g.137800973A>GCA375789043EHMT1c.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)
9g.137800973A>TCA375789044EHMT1c.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)
9g.137800974T>ACA375789046EHMT1c.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)
9g.137800974T>CCA375789048EHMT1c.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)
9g.137800974T>GCA375789050EHMT1c.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)
9g.137800975C>ACA467877676EHMT1c.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=)
9g.137800975C>GCA375789051EHMT1c.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
9g.137800975C>TCA467877675EHMT1c.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
9g.137800976C>ACA467877677EHMT1c.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
9g.137800976C=CA1884679291EHMT1c.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=)
9g.137800976C>GCA375789053EHMT1c.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)
9g.137800976C>TCA10603028EHMT1c.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
9g.137800977G>ACA223772EHMT1c.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
9g.137800977G>CCA375789056EHMT1c.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)
9g.137800977G=CA1884679292EHMT1c.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=)
9g.137800977G>TCA375789057EHMT1c.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)
9g.137800978A>CCA467877678EHMT1c.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=)
9g.137800978A>GCA467877679EHMT1c.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
9g.137800978A>TCA467877680EHMT1c.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
9g.137800979G>ACA375789061EHMT1c.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)
9g.137800979G>CCA375789062EHMT1c.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)
9g.137800979G>TCA375789059EHMT1c.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)
9g.137800980A>CCA375789064EHMT1c.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)
9g.137800980A>GCA375789065EHMT1c.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)
9g.137800980A>TCA375789067EHMT1c.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)
9g.137800981C>ACA375789068EHMT1c.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)
9g.137800981C>GCA375789069EHMT1c.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)
9g.137800981C>TCA467877681EHMT1c.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=)
9g.137800982A>CCA375789074EHMT1c.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)
9g.137800982A>GCA375789072EHMT1c.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)
9g.137800982A>TCA375789071EHMT1c.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)
9g.137800983A>CCA375789076EHMT1c.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)
9g.137800983A>GCA375789078EHMT1c.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)
9g.137800983A>TCA375789079EHMT1c.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)
9g.137800984C>ACA375789081EHMT1c.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)
9g.137800984C=CA1884679293EHMT1c.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=)
9g.137800984C>GCA375789083EHMT1c.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)
9g.137800984C>TCA5375024EHMT1c.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
9g.137800987_137801015delCA2573320291EHMT1c.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
9g.137800985G>ACA16043442EHMT1c.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
9g.137800985G>CCA16618819EHMT1c.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
9g.137800985G=CA1884679294EHMT1c.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=)
9g.137800985G>TCA375789085EHMT1c.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)
9g.137800986T>ACA375789087EHMT1c.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)
9g.137800986T>CCA375789088EHMT1c.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)
9g.137800986T>GCA375789089EHMT1c.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)
9g.137800986dupCA918580785EHMT1c.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
9g.137800987A>GCA2692889260EHMT1c.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
9g.137800989G>CCA2573144342EHMT1c.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
9g.137800991T>GCA2573144343EHMT1c.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
9g.137800992C=CA1884679295EHMT1c.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=)
9g.137800992C>GCA2692889261EHMT1c.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
9g.137800992C>TCA5375025EHMT1c.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
9g.137800993G>ACA208814EHMT1c.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
9g.137800993G=CA1884679296EHMT1c.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=)
9g.137800994_137800996delinsTCACA1884679297EHMT1c.2712+10_2712+12delinsTCA (n.2712+10_2712+12delinsTCA)
c.2598+10_2598+12delinsTCA (n.2598+10_2598+12delinsTCA)
c.2619+10_2619+12delinsTCA (n.2619+10_2619+12delinsTCA)
c.2752+10_2752+12delinsTCA (n.2752+10_2752+12delinsTCA)
c.606+10_606+12delinsTCA (n.606+10_606+12delinsTCA)
c.390+10_390+12delinsTCA (n.390+10_390+12delinsTCA)
c.1569+10_1569+12delinsTCA (n.1569+10_1569+12delinsTCA)
c.282+10_282+12delinsTCA (n.282+10_282+12delinsTCA)
c.290+10_290+12delinsTCA
n.238+10_238+12delinsTCA
c.2703+10_2703+12delinsTCA (n.2703+10_2703+12delinsTCA)
c.2694+10_2694+12delinsTCA (n.2694+10_2694+12delinsTCA)
c.2721+10_2721+12delinsTCA (n.2721+10_2721+12delinsTCA)
c.2718+10_2718+12delinsTCA (n.2718+10_2718+12delinsTCA)
c.2700+10_2700+12delinsTCA (n.2700+10_2700+12delinsTCA)
c.2643+10_2643+12delinsTCA (n.2643+10_2643+12delinsTCA)
c.2577+10_2577+12delinsTCA (n.2577+10_2577+12delinsTCA)
c.1143+10_1143+12delinsTCA (n.1143+10_1143+12delinsTCA)
c.495+10_495+12delinsTCA (n.495+10_495+12delinsTCA)
c.2556+10_2556+12delinsTCA (n.2556+10_2556+12delinsTCA)
c.2691+10_2691+12delinsTCA (n.2691+10_2691+12delinsTCA)
c.2697+10_2697+12delinsTCA (n.2697+10_2697+12delinsTCA)
c.2613+10_2613+12delinsTCA (n.2613+10_2613+12delinsTCA)
c.2541+10_2541+12delinsTCA (n.2541+10_2541+12delinsTCA)
c.2475+10_2475+12delinsTCA (n.2475+10_2475+12delinsTCA)
c.1836+10_1836+12delinsTCA (n.1836+10_1836+12delinsTCA)
c.2454+10_2454+12delinsTCA (n.2454+10_2454+12delinsTCA)

Number of alleles fetched