Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137800937G>A | CA5375023 | EHMT1 | c.2665G>A (p.Val889Met) c.2551G>A (p.Val851Met) c.2572G>A (p.Val858Met) c.2705G>A (n.2705G>A) c.559G>A (p.Val187Met) c.343G>A (p.Val115Met) c.1522G>A (p.Val508Met) c.235G>A (p.Val79Met) c.243G>A n.191G>A c.2656G>A (p.Val886Met) c.2647G>A (p.Val883Met) c.2674G>A (p.Val892Met) c.2671G>A (p.Val891Met) c.2653G>A (p.Val885Met) c.2596G>A (p.Val866Met) c.2530G>A (p.Val844Met) c.1096G>A (p.Val366Met) c.448G>A (p.Val150Met) c.2509G>A (p.Val837Met) c.2644G>A (p.Val882Met) c.2650G>A (p.Val884Met) c.2566G>A (p.Val856Met) c.2494G>A (p.Val832Met) c.2428G>A (p.Val810Met) c.1789G>A (p.Val597Met) c.2407G>A (p.Val803Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800937G>C | CA375788917 | EHMT1 | c.2665G>C (p.Val889Leu) c.2551G>C (p.Val851Leu) c.2572G>C (p.Val858Leu) c.2705G>C (n.2705G>C) c.559G>C (p.Val187Leu) c.343G>C (p.Val115Leu) c.1522G>C (p.Val508Leu) c.235G>C (p.Val79Leu) c.243G>C n.191G>C c.2656G>C (p.Val886Leu) c.2647G>C (p.Val883Leu) c.2674G>C (p.Val892Leu) c.2671G>C (p.Val891Leu) c.2653G>C (p.Val885Leu) c.2596G>C (p.Val866Leu) c.2530G>C (p.Val844Leu) c.1096G>C (p.Val366Leu) c.448G>C (p.Val150Leu) c.2509G>C (p.Val837Leu) c.2644G>C (p.Val882Leu) c.2650G>C (p.Val884Leu) c.2566G>C (p.Val856Leu) c.2494G>C (p.Val832Leu) c.2428G>C (p.Val810Leu) c.1789G>C (p.Val597Leu) c.2407G>C (p.Val803Leu) | |
9 | g.137800937G= | CA1884679281 | EHMT1 | c.2665G= (p.Val889=) c.2551G= (p.Val851=) c.2572G= (p.Val858=) c.2705G= (n.2705G=) c.559G= (p.Val187=) c.343G= (p.Val115=) c.1522G= (p.Val508=) c.235G= (p.Val79=) c.243G= n.191G= c.2656G= (p.Val886=) c.2647G= (p.Val883=) c.2674G= (p.Val892=) c.2671G= (p.Val891=) c.2653G= (p.Val885=) c.2596G= (p.Val866=) c.2530G= (p.Val844=) c.1096G= (p.Val366=) c.448G= (p.Val150=) c.2509G= (p.Val837=) c.2644G= (p.Val882=) c.2650G= (p.Val884=) c.2566G= (p.Val856=) c.2494G= (p.Val832=) c.2428G= (p.Val810=) c.1789G= (p.Val597=) c.2407G= (p.Val803=) | |
9 | g.137800937G>T | CA375788918 | EHMT1 | c.2665G>T (p.Val889Leu) c.2551G>T (p.Val851Leu) c.2572G>T (p.Val858Leu) c.2705G>T (n.2705G>T) c.559G>T (p.Val187Leu) c.343G>T (p.Val115Leu) c.1522G>T (p.Val508Leu) c.235G>T (p.Val79Leu) c.243G>T n.191G>T c.2656G>T (p.Val886Leu) c.2647G>T (p.Val883Leu) c.2674G>T (p.Val892Leu) c.2671G>T (p.Val891Leu) c.2653G>T (p.Val885Leu) c.2596G>T (p.Val866Leu) c.2530G>T (p.Val844Leu) c.1096G>T (p.Val366Leu) c.448G>T (p.Val150Leu) c.2509G>T (p.Val837Leu) c.2644G>T (p.Val882Leu) c.2650G>T (p.Val884Leu) c.2566G>T (p.Val856Leu) c.2494G>T (p.Val832Leu) c.2428G>T (p.Val810Leu) c.1789G>T (p.Val597Leu) c.2407G>T (p.Val803Leu) | |
9 | g.137800938T>A | CA375788920 | EHMT1 | c.2666T>A (p.Val889Glu) c.2552T>A (p.Val851Glu) c.2573T>A (p.Val858Glu) c.2706T>A (n.2706T>A) c.560T>A (p.Val187Glu) c.344T>A (p.Val115Glu) c.1523T>A (p.Val508Glu) c.236T>A (p.Val79Glu) c.244T>A n.192T>A c.2657T>A (p.Val886Glu) c.2648T>A (p.Val883Glu) c.2675T>A (p.Val892Glu) c.2672T>A (p.Val891Glu) c.2654T>A (p.Val885Glu) c.2597T>A (p.Val866Glu) c.2531T>A (p.Val844Glu) c.1097T>A (p.Val366Glu) c.449T>A (p.Val150Glu) c.2510T>A (p.Val837Glu) c.2645T>A (p.Val882Glu) c.2651T>A (p.Val884Glu) c.2567T>A (p.Val856Glu) c.2495T>A (p.Val832Glu) c.2429T>A (p.Val810Glu) c.1790T>A (p.Val597Glu) c.2408T>A (p.Val803Glu) | |
9 | g.137800938T>C | CA375788922 | EHMT1 | c.2666T>C (p.Val889Ala) c.2552T>C (p.Val851Ala) c.2573T>C (p.Val858Ala) c.2706T>C (n.2706T>C) c.560T>C (p.Val187Ala) c.344T>C (p.Val115Ala) c.1523T>C (p.Val508Ala) c.236T>C (p.Val79Ala) c.244T>C n.192T>C c.2657T>C (p.Val886Ala) c.2648T>C (p.Val883Ala) c.2675T>C (p.Val892Ala) c.2672T>C (p.Val891Ala) c.2654T>C (p.Val885Ala) c.2597T>C (p.Val866Ala) c.2531T>C (p.Val844Ala) c.1097T>C (p.Val366Ala) c.449T>C (p.Val150Ala) c.2510T>C (p.Val837Ala) c.2645T>C (p.Val882Ala) c.2651T>C (p.Val884Ala) c.2567T>C (p.Val856Ala) c.2495T>C (p.Val832Ala) c.2429T>C (p.Val810Ala) c.1790T>C (p.Val597Ala) c.2408T>C (p.Val803Ala) | |
9 | g.137800938T>G | CA375788924 | EHMT1 | c.2666T>G (p.Val889Gly) c.2552T>G (p.Val851Gly) c.2573T>G (p.Val858Gly) c.2706T>G (n.2706T>G) c.560T>G (p.Val187Gly) c.344T>G (p.Val115Gly) c.1523T>G (p.Val508Gly) c.236T>G (p.Val79Gly) c.244T>G n.192T>G c.2657T>G (p.Val886Gly) c.2648T>G (p.Val883Gly) c.2675T>G (p.Val892Gly) c.2672T>G (p.Val891Gly) c.2654T>G (p.Val885Gly) c.2597T>G (p.Val866Gly) c.2531T>G (p.Val844Gly) c.1097T>G (p.Val366Gly) c.449T>G (p.Val150Gly) c.2510T>G (p.Val837Gly) c.2645T>G (p.Val882Gly) c.2651T>G (p.Val884Gly) c.2567T>G (p.Val856Gly) c.2495T>G (p.Val832Gly) c.2429T>G (p.Val810Gly) c.1790T>G (p.Val597Gly) c.2408T>G (p.Val803Gly) | gnomAD v4 |
9 | g.137800939G>A | CA467877638 | EHMT1 | c.2667G>A (p.Val889=) c.2553G>A (p.Val851=) c.2574G>A (p.Val858=) c.2707G>A (n.2707G>A) c.561G>A (p.Val187=) c.345G>A (p.Val115=) c.1524G>A (p.Val508=) c.237G>A (p.Val79=) c.245G>A n.193G>A c.2658G>A (p.Val886=) c.2649G>A (p.Val883=) c.2676G>A (p.Val892=) c.2673G>A (p.Val891=) c.2655G>A (p.Val885=) c.2598G>A (p.Val866=) c.2532G>A (p.Val844=) c.1098G>A (p.Val366=) c.450G>A (p.Val150=) c.2511G>A (p.Val837=) c.2646G>A (p.Val882=) c.2652G>A (p.Val884=) c.2568G>A (p.Val856=) c.2496G>A (p.Val832=) c.2430G>A (p.Val810=) c.1791G>A (p.Val597=) c.2409G>A (p.Val803=) | gnomAD v4 |
9 | g.137800939G>C | CA467877640 | EHMT1 | c.2667G>C (p.Val889=) c.2553G>C (p.Val851=) c.2574G>C (p.Val858=) c.2707G>C (n.2707G>C) c.561G>C (p.Val187=) c.345G>C (p.Val115=) c.1524G>C (p.Val508=) c.237G>C (p.Val79=) c.245G>C n.193G>C c.2658G>C (p.Val886=) c.2649G>C (p.Val883=) c.2676G>C (p.Val892=) c.2673G>C (p.Val891=) c.2655G>C (p.Val885=) c.2598G>C (p.Val866=) c.2532G>C (p.Val844=) c.1098G>C (p.Val366=) c.450G>C (p.Val150=) c.2511G>C (p.Val837=) c.2646G>C (p.Val882=) c.2652G>C (p.Val884=) c.2568G>C (p.Val856=) c.2496G>C (p.Val832=) c.2430G>C (p.Val810=) c.1791G>C (p.Val597=) c.2409G>C (p.Val803=) | gnomAD v4 |
9 | g.137800939G>T | CA467877639 | EHMT1 | c.2667G>T (p.Val889=) c.2553G>T (p.Val851=) c.2574G>T (p.Val858=) c.2707G>T (n.2707G>T) c.561G>T (p.Val187=) c.345G>T (p.Val115=) c.1524G>T (p.Val508=) c.237G>T (p.Val79=) c.245G>T n.193G>T c.2658G>T (p.Val886=) c.2649G>T (p.Val883=) c.2676G>T (p.Val892=) c.2673G>T (p.Val891=) c.2655G>T (p.Val885=) c.2598G>T (p.Val866=) c.2532G>T (p.Val844=) c.1098G>T (p.Val366=) c.450G>T (p.Val150=) c.2511G>T (p.Val837=) c.2646G>T (p.Val882=) c.2652G>T (p.Val884=) c.2568G>T (p.Val856=) c.2496G>T (p.Val832=) c.2430G>T (p.Val810=) c.1791G>T (p.Val597=) c.2409G>T (p.Val803=) | |
9 | g.137800940A>C | CA375788925 | EHMT1 | c.2668A>C (p.Lys890Gln) c.2554A>C (p.Lys852Gln) c.2575A>C (p.Lys859Gln) c.2708A>C (n.2708A>C) c.562A>C (p.Lys188Gln) c.346A>C (p.Lys116Gln) c.1525A>C (p.Lys509Gln) c.238A>C (p.Lys80Gln) c.246A>C n.194A>C c.2659A>C (p.Lys887Gln) c.2650A>C (p.Lys884Gln) c.2677A>C (p.Lys893Gln) c.2674A>C (p.Lys892Gln) c.2656A>C (p.Lys886Gln) c.2599A>C (p.Lys867Gln) c.2533A>C (p.Lys845Gln) c.1099A>C (p.Lys367Gln) c.451A>C (p.Lys151Gln) c.2512A>C (p.Lys838Gln) c.2647A>C (p.Lys883Gln) c.2653A>C (p.Lys885Gln) c.2569A>C (p.Lys857Gln) c.2497A>C (p.Lys833Gln) c.2431A>C (p.Lys811Gln) c.1792A>C (p.Lys598Gln) c.2410A>C (p.Lys804Gln) | |
9 | g.137800940A>G | CA375788927 | EHMT1 | c.2668A>G (p.Lys890Glu) c.2554A>G (p.Lys852Glu) c.2575A>G (p.Lys859Glu) c.2708A>G (n.2708A>G) c.562A>G (p.Lys188Glu) c.346A>G (p.Lys116Glu) c.1525A>G (p.Lys509Glu) c.238A>G (p.Lys80Glu) c.246A>G n.194A>G c.2659A>G (p.Lys887Glu) c.2650A>G (p.Lys884Glu) c.2677A>G (p.Lys893Glu) c.2674A>G (p.Lys892Glu) c.2656A>G (p.Lys886Glu) c.2599A>G (p.Lys867Glu) c.2533A>G (p.Lys845Glu) c.1099A>G (p.Lys367Glu) c.451A>G (p.Lys151Glu) c.2512A>G (p.Lys838Glu) c.2647A>G (p.Lys883Glu) c.2653A>G (p.Lys885Glu) c.2569A>G (p.Lys857Glu) c.2497A>G (p.Lys833Glu) c.2431A>G (p.Lys811Glu) c.1792A>G (p.Lys598Glu) c.2410A>G (p.Lys804Glu) | gnomAD v4 |
9 | g.137800940A>T | CA375788929 | EHMT1 | c.2668A>T (p.Lys890Ter) c.2554A>T (p.Lys852Ter) c.2575A>T (p.Lys859Ter) c.2708A>T (n.2708A>T) c.562A>T (p.Lys188Ter) c.346A>T (p.Lys116Ter) c.1525A>T (p.Lys509Ter) c.238A>T (p.Lys80Ter) c.246A>T n.194A>T c.2659A>T (p.Lys887Ter) c.2650A>T (p.Lys884Ter) c.2677A>T (p.Lys893Ter) c.2674A>T (p.Lys892Ter) c.2656A>T (p.Lys886Ter) c.2599A>T (p.Lys867Ter) c.2533A>T (p.Lys845Ter) c.1099A>T (p.Lys367Ter) c.451A>T (p.Lys151Ter) c.2512A>T (p.Lys838Ter) c.2647A>T (p.Lys883Ter) c.2653A>T (p.Lys885Ter) c.2569A>T (p.Lys857Ter) c.2497A>T (p.Lys833Ter) c.2431A>T (p.Lys811Ter) c.1792A>T (p.Lys598Ter) c.2410A>T (p.Lys804Ter) | |
9 | g.137800941A>C | CA375788931 | EHMT1 | c.2669A>C (p.Lys890Thr) c.2555A>C (p.Lys852Thr) c.2576A>C (p.Lys859Thr) c.2709A>C (n.2709A>C) c.563A>C (p.Lys188Thr) c.347A>C (p.Lys116Thr) c.1526A>C (p.Lys509Thr) c.239A>C (p.Lys80Thr) c.247A>C n.195A>C c.2660A>C (p.Lys887Thr) c.2651A>C (p.Lys884Thr) c.2678A>C (p.Lys893Thr) c.2675A>C (p.Lys892Thr) c.2657A>C (p.Lys886Thr) c.2600A>C (p.Lys867Thr) c.2534A>C (p.Lys845Thr) c.1100A>C (p.Lys367Thr) c.452A>C (p.Lys151Thr) c.2513A>C (p.Lys838Thr) c.2648A>C (p.Lys883Thr) c.2654A>C (p.Lys885Thr) c.2570A>C (p.Lys857Thr) c.2498A>C (p.Lys833Thr) c.2432A>C (p.Lys811Thr) c.1793A>C (p.Lys598Thr) c.2411A>C (p.Lys804Thr) | |
9 | g.137800941A>G | CA375788932 | EHMT1 | c.2669A>G (p.Lys890Arg) c.2555A>G (p.Lys852Arg) c.2576A>G (p.Lys859Arg) c.2709A>G (n.2709A>G) c.563A>G (p.Lys188Arg) c.347A>G (p.Lys116Arg) c.1526A>G (p.Lys509Arg) c.239A>G (p.Lys80Arg) c.247A>G n.195A>G c.2660A>G (p.Lys887Arg) c.2651A>G (p.Lys884Arg) c.2678A>G (p.Lys893Arg) c.2675A>G (p.Lys892Arg) c.2657A>G (p.Lys886Arg) c.2600A>G (p.Lys867Arg) c.2534A>G (p.Lys845Arg) c.1100A>G (p.Lys367Arg) c.452A>G (p.Lys151Arg) c.2513A>G (p.Lys838Arg) c.2648A>G (p.Lys883Arg) c.2654A>G (p.Lys885Arg) c.2570A>G (p.Lys857Arg) c.2498A>G (p.Lys833Arg) c.2432A>G (p.Lys811Arg) c.1793A>G (p.Lys598Arg) c.2411A>G (p.Lys804Arg) | |
9 | g.137800941A>T | CA375788934 | EHMT1 | c.2669A>T (p.Lys890Met) c.2555A>T (p.Lys852Met) c.2576A>T (p.Lys859Met) c.2709A>T (n.2709A>T) c.563A>T (p.Lys188Met) c.347A>T (p.Lys116Met) c.1526A>T (p.Lys509Met) c.239A>T (p.Lys80Met) c.247A>T n.195A>T c.2660A>T (p.Lys887Met) c.2651A>T (p.Lys884Met) c.2678A>T (p.Lys893Met) c.2675A>T (p.Lys892Met) c.2657A>T (p.Lys886Met) c.2600A>T (p.Lys867Met) c.2534A>T (p.Lys845Met) c.1100A>T (p.Lys367Met) c.452A>T (p.Lys151Met) c.2513A>T (p.Lys838Met) c.2648A>T (p.Lys883Met) c.2654A>T (p.Lys885Met) c.2570A>T (p.Lys857Met) c.2498A>T (p.Lys833Met) c.2432A>T (p.Lys811Met) c.1793A>T (p.Lys598Met) c.2411A>T (p.Lys804Met) | |
9 | g.137800942G>A | CA467877642 | EHMT1 | c.2670G>A (p.Lys890=) c.2556G>A (p.Lys852=) c.2577G>A (p.Lys859=) c.2710G>A (n.2710G>A) c.564G>A (p.Lys188=) c.348G>A (p.Lys116=) c.1527G>A (p.Lys509=) c.240G>A (p.Lys80=) c.248G>A n.196G>A c.2661G>A (p.Lys887=) c.2652G>A (p.Lys884=) c.2679G>A (p.Lys893=) c.2676G>A (p.Lys892=) c.2658G>A (p.Lys886=) c.2601G>A (p.Lys867=) c.2535G>A (p.Lys845=) c.1101G>A (p.Lys367=) c.453G>A (p.Lys151=) c.2514G>A (p.Lys838=) c.2649G>A (p.Lys883=) c.2655G>A (p.Lys885=) c.2571G>A (p.Lys857=) c.2499G>A (p.Lys833=) c.2433G>A (p.Lys811=) c.1794G>A (p.Lys598=) c.2412G>A (p.Lys804=) | |
9 | g.137800942G>C | CA375788938 | EHMT1 | c.2670G>C (p.Lys890Asn) c.2556G>C (p.Lys852Asn) c.2577G>C (p.Lys859Asn) c.2710G>C (n.2710G>C) c.564G>C (p.Lys188Asn) c.348G>C (p.Lys116Asn) c.1527G>C (p.Lys509Asn) c.240G>C (p.Lys80Asn) c.248G>C n.196G>C c.2661G>C (p.Lys887Asn) c.2652G>C (p.Lys884Asn) c.2679G>C (p.Lys893Asn) c.2676G>C (p.Lys892Asn) c.2658G>C (p.Lys886Asn) c.2601G>C (p.Lys867Asn) c.2535G>C (p.Lys845Asn) c.1101G>C (p.Lys367Asn) c.453G>C (p.Lys151Asn) c.2514G>C (p.Lys838Asn) c.2649G>C (p.Lys883Asn) c.2655G>C (p.Lys885Asn) c.2571G>C (p.Lys857Asn) c.2499G>C (p.Lys833Asn) c.2433G>C (p.Lys811Asn) c.1794G>C (p.Lys598Asn) c.2412G>C (p.Lys804Asn) | |
9 | g.137800942G= | CA1884679282 | EHMT1 | c.2670G= (p.Lys890=) c.2556G= (p.Lys852=) c.2577G= (p.Lys859=) c.2710G= (n.2710G=) c.564G= (p.Lys188=) c.348G= (p.Lys116=) c.1527G= (p.Lys509=) c.240G= (p.Lys80=) c.248G= n.196G= c.2661G= (p.Lys887=) c.2652G= (p.Lys884=) c.2679G= (p.Lys893=) c.2676G= (p.Lys892=) c.2658G= (p.Lys886=) c.2601G= (p.Lys867=) c.2535G= (p.Lys845=) c.1101G= (p.Lys367=) c.453G= (p.Lys151=) c.2514G= (p.Lys838=) c.2649G= (p.Lys883=) c.2655G= (p.Lys885=) c.2571G= (p.Lys857=) c.2499G= (p.Lys833=) c.2433G= (p.Lys811=) c.1794G= (p.Lys598=) c.2412G= (p.Lys804=) | |
9 | g.137800942G>T | CA375788936 | EHMT1 | c.2670G>T (p.Lys890Asn) c.2556G>T (p.Lys852Asn) c.2577G>T (p.Lys859Asn) c.2710G>T (n.2710G>T) c.564G>T (p.Lys188Asn) c.348G>T (p.Lys116Asn) c.1527G>T (p.Lys509Asn) c.240G>T (p.Lys80Asn) c.248G>T n.196G>T c.2661G>T (p.Lys887Asn) c.2652G>T (p.Lys884Asn) c.2679G>T (p.Lys893Asn) c.2676G>T (p.Lys892Asn) c.2658G>T (p.Lys886Asn) c.2601G>T (p.Lys867Asn) c.2535G>T (p.Lys845Asn) c.1101G>T (p.Lys367Asn) c.453G>T (p.Lys151Asn) c.2514G>T (p.Lys838Asn) c.2649G>T (p.Lys883Asn) c.2655G>T (p.Lys885Asn) c.2571G>T (p.Lys857Asn) c.2499G>T (p.Lys833Asn) c.2433G>T (p.Lys811Asn) c.1794G>T (p.Lys598Asn) c.2412G>T (p.Lys804Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800943C>A | CA375788940 | EHMT1 | c.2671C>A (p.Leu891Met) c.2557C>A (p.Leu853Met) c.2578C>A (p.Leu860Met) c.2711C>A (n.2711C>A) c.565C>A (p.Leu189Met) c.349C>A (p.Leu117Met) c.1528C>A (p.Leu510Met) c.241C>A (p.Leu81Met) c.249C>A n.197C>A c.2662C>A (p.Leu888Met) c.2653C>A (p.Leu885Met) c.2680C>A (p.Leu894Met) c.2677C>A (p.Leu893Met) c.2659C>A (p.Leu887Met) c.2602C>A (p.Leu868Met) c.2536C>A (p.Leu846Met) c.1102C>A (p.Leu368Met) c.454C>A (p.Leu152Met) c.2515C>A (p.Leu839Met) c.2650C>A (p.Leu884Met) c.2656C>A (p.Leu886Met) c.2572C>A (p.Leu858Met) c.2500C>A (p.Leu834Met) c.2434C>A (p.Leu812Met) c.1795C>A (p.Leu599Met) c.2413C>A (p.Leu805Met) | |
9 | g.137800943C>G | CA375788941 | EHMT1 | c.2671C>G (p.Leu891Val) c.2557C>G (p.Leu853Val) c.2578C>G (p.Leu860Val) c.2711C>G (n.2711C>G) c.565C>G (p.Leu189Val) c.349C>G (p.Leu117Val) c.1528C>G (p.Leu510Val) c.241C>G (p.Leu81Val) c.249C>G n.197C>G c.2662C>G (p.Leu888Val) c.2653C>G (p.Leu885Val) c.2680C>G (p.Leu894Val) c.2677C>G (p.Leu893Val) c.2659C>G (p.Leu887Val) c.2602C>G (p.Leu868Val) c.2536C>G (p.Leu846Val) c.1102C>G (p.Leu368Val) c.454C>G (p.Leu152Val) c.2515C>G (p.Leu839Val) c.2650C>G (p.Leu884Val) c.2656C>G (p.Leu886Val) c.2572C>G (p.Leu858Val) c.2500C>G (p.Leu834Val) c.2434C>G (p.Leu812Val) c.1795C>G (p.Leu599Val) c.2413C>G (p.Leu805Val) | |
9 | g.137800943C>T | CA467877643 | EHMT1 | c.2671C>T (p.Leu891=) c.2557C>T (p.Leu853=) c.2578C>T (p.Leu860=) c.2711C>T (n.2711C>T) c.565C>T (p.Leu189=) c.349C>T (p.Leu117=) c.1528C>T (p.Leu510=) c.241C>T (p.Leu81=) c.249C>T n.197C>T c.2662C>T (p.Leu888=) c.2653C>T (p.Leu885=) c.2680C>T (p.Leu894=) c.2677C>T (p.Leu893=) c.2659C>T (p.Leu887=) c.2602C>T (p.Leu868=) c.2536C>T (p.Leu846=) c.1102C>T (p.Leu368=) c.454C>T (p.Leu152=) c.2515C>T (p.Leu839=) c.2650C>T (p.Leu884=) c.2656C>T (p.Leu886=) c.2572C>T (p.Leu858=) c.2500C>T (p.Leu834=) c.2434C>T (p.Leu812=) c.1795C>T (p.Leu599=) c.2413C>T (p.Leu805=) | |
9 | g.137800944T>A | CA375788943 | EHMT1 | c.2672T>A (p.Leu891Gln) c.2558T>A (p.Leu853Gln) c.2579T>A (p.Leu860Gln) c.2712T>A (n.2712T>A) c.566T>A (p.Leu189Gln) c.350T>A (p.Leu117Gln) c.1529T>A (p.Leu510Gln) c.242T>A (p.Leu81Gln) c.250T>A n.198T>A c.2663T>A (p.Leu888Gln) c.2654T>A (p.Leu885Gln) c.2681T>A (p.Leu894Gln) c.2678T>A (p.Leu893Gln) c.2660T>A (p.Leu887Gln) c.2603T>A (p.Leu868Gln) c.2537T>A (p.Leu846Gln) c.1103T>A (p.Leu368Gln) c.455T>A (p.Leu152Gln) c.2516T>A (p.Leu839Gln) c.2651T>A (p.Leu884Gln) c.2657T>A (p.Leu886Gln) c.2573T>A (p.Leu858Gln) c.2501T>A (p.Leu834Gln) c.2435T>A (p.Leu812Gln) c.1796T>A (p.Leu599Gln) c.2414T>A (p.Leu805Gln) | |
9 | g.137800944T>C | CA375788944 | EHMT1 | c.2672T>C (p.Leu891Pro) c.2558T>C (p.Leu853Pro) c.2579T>C (p.Leu860Pro) c.2712T>C (n.2712T>C) c.566T>C (p.Leu189Pro) c.350T>C (p.Leu117Pro) c.1529T>C (p.Leu510Pro) c.242T>C (p.Leu81Pro) c.250T>C n.198T>C c.2663T>C (p.Leu888Pro) c.2654T>C (p.Leu885Pro) c.2681T>C (p.Leu894Pro) c.2678T>C (p.Leu893Pro) c.2660T>C (p.Leu887Pro) c.2603T>C (p.Leu868Pro) c.2537T>C (p.Leu846Pro) c.1103T>C (p.Leu368Pro) c.455T>C (p.Leu152Pro) c.2516T>C (p.Leu839Pro) c.2651T>C (p.Leu884Pro) c.2657T>C (p.Leu886Pro) c.2573T>C (p.Leu858Pro) c.2501T>C (p.Leu834Pro) c.2435T>C (p.Leu812Pro) c.1796T>C (p.Leu599Pro) c.2414T>C (p.Leu805Pro) | ClinVar dbSNP |
9 | g.137800944T>G | CA375788946 | EHMT1 | c.2672T>G (p.Leu891Arg) c.2558T>G (p.Leu853Arg) c.2579T>G (p.Leu860Arg) c.2712T>G (n.2712T>G) c.566T>G (p.Leu189Arg) c.350T>G (p.Leu117Arg) c.1529T>G (p.Leu510Arg) c.242T>G (p.Leu81Arg) c.250T>G n.198T>G c.2663T>G (p.Leu888Arg) c.2654T>G (p.Leu885Arg) c.2681T>G (p.Leu894Arg) c.2678T>G (p.Leu893Arg) c.2660T>G (p.Leu887Arg) c.2603T>G (p.Leu868Arg) c.2537T>G (p.Leu846Arg) c.1103T>G (p.Leu368Arg) c.455T>G (p.Leu152Arg) c.2516T>G (p.Leu839Arg) c.2651T>G (p.Leu884Arg) c.2657T>G (p.Leu886Arg) c.2573T>G (p.Leu858Arg) c.2501T>G (p.Leu834Arg) c.2435T>G (p.Leu812Arg) c.1796T>G (p.Leu599Arg) c.2414T>G (p.Leu805Arg) | |
9 | g.137800945G>A | CA467877644 | EHMT1 | c.2673G>A (p.Leu891=) c.2559G>A (p.Leu853=) c.2580G>A (p.Leu860=) c.2713G>A (n.2713G>A) c.567G>A (p.Leu189=) c.351G>A (p.Leu117=) c.1530G>A (p.Leu510=) c.243G>A (p.Leu81=) c.251G>A n.199G>A c.2664G>A (p.Leu888=) c.2655G>A (p.Leu885=) c.2682G>A (p.Leu894=) c.2679G>A (p.Leu893=) c.2661G>A (p.Leu887=) c.2604G>A (p.Leu868=) c.2538G>A (p.Leu846=) c.1104G>A (p.Leu368=) c.456G>A (p.Leu152=) c.2517G>A (p.Leu839=) c.2652G>A (p.Leu884=) c.2658G>A (p.Leu886=) c.2574G>A (p.Leu858=) c.2502G>A (p.Leu834=) c.2436G>A (p.Leu812=) c.1797G>A (p.Leu599=) c.2415G>A (p.Leu805=) | |
9 | g.137800945G>C | CA467877646 | EHMT1 | c.2673G>C (p.Leu891=) c.2559G>C (p.Leu853=) c.2580G>C (p.Leu860=) c.2713G>C (n.2713G>C) c.567G>C (p.Leu189=) c.351G>C (p.Leu117=) c.1530G>C (p.Leu510=) c.243G>C (p.Leu81=) c.251G>C n.199G>C c.2664G>C (p.Leu888=) c.2655G>C (p.Leu885=) c.2682G>C (p.Leu894=) c.2679G>C (p.Leu893=) c.2661G>C (p.Leu887=) c.2604G>C (p.Leu868=) c.2538G>C (p.Leu846=) c.1104G>C (p.Leu368=) c.456G>C (p.Leu152=) c.2517G>C (p.Leu839=) c.2652G>C (p.Leu884=) c.2658G>C (p.Leu886=) c.2574G>C (p.Leu858=) c.2502G>C (p.Leu834=) c.2436G>C (p.Leu812=) c.1797G>C (p.Leu599=) c.2415G>C (p.Leu805=) | |
9 | g.137800945G>T | CA467877645 | EHMT1 | c.2673G>T (p.Leu891=) c.2559G>T (p.Leu853=) c.2580G>T (p.Leu860=) c.2713G>T (n.2713G>T) c.567G>T (p.Leu189=) c.351G>T (p.Leu117=) c.1530G>T (p.Leu510=) c.243G>T (p.Leu81=) c.251G>T n.199G>T c.2664G>T (p.Leu888=) c.2655G>T (p.Leu885=) c.2682G>T (p.Leu894=) c.2679G>T (p.Leu893=) c.2661G>T (p.Leu887=) c.2604G>T (p.Leu868=) c.2538G>T (p.Leu846=) c.1104G>T (p.Leu368=) c.456G>T (p.Leu152=) c.2517G>T (p.Leu839=) c.2652G>T (p.Leu884=) c.2658G>T (p.Leu886=) c.2574G>T (p.Leu858=) c.2502G>T (p.Leu834=) c.2436G>T (p.Leu812=) c.1797G>T (p.Leu599=) c.2415G>T (p.Leu805=) | |
9 | g.137800946C>A | CA375788947 | EHMT1 | c.2674C>A (p.Leu892Met) c.2560C>A (p.Leu854Met) c.2581C>A (p.Leu861Met) c.2714C>A (n.2714C>A) c.568C>A (p.Leu190Met) c.352C>A (p.Leu118Met) c.1531C>A (p.Leu511Met) c.244C>A (p.Leu82Met) c.252C>A n.200C>A c.2665C>A (p.Leu889Met) c.2656C>A (p.Leu886Met) c.2683C>A (p.Leu895Met) c.2680C>A (p.Leu894Met) c.2662C>A (p.Leu888Met) c.2605C>A (p.Leu869Met) c.2539C>A (p.Leu847Met) c.1105C>A (p.Leu369Met) c.457C>A (p.Leu153Met) c.2518C>A (p.Leu840Met) c.2653C>A (p.Leu885Met) c.2659C>A (p.Leu887Met) c.2575C>A (p.Leu859Met) c.2503C>A (p.Leu835Met) c.2437C>A (p.Leu813Met) c.1798C>A (p.Leu600Met) c.2416C>A (p.Leu806Met) | |
9 | g.137800946C>G | CA375788948 | EHMT1 | c.2674C>G (p.Leu892Val) c.2560C>G (p.Leu854Val) c.2581C>G (p.Leu861Val) c.2714C>G (n.2714C>G) c.568C>G (p.Leu190Val) c.352C>G (p.Leu118Val) c.1531C>G (p.Leu511Val) c.244C>G (p.Leu82Val) c.252C>G n.200C>G c.2665C>G (p.Leu889Val) c.2656C>G (p.Leu886Val) c.2683C>G (p.Leu895Val) c.2680C>G (p.Leu894Val) c.2662C>G (p.Leu888Val) c.2605C>G (p.Leu869Val) c.2539C>G (p.Leu847Val) c.1105C>G (p.Leu369Val) c.457C>G (p.Leu153Val) c.2518C>G (p.Leu840Val) c.2653C>G (p.Leu885Val) c.2659C>G (p.Leu887Val) c.2575C>G (p.Leu859Val) c.2503C>G (p.Leu835Val) c.2437C>G (p.Leu813Val) c.1798C>G (p.Leu600Val) c.2416C>G (p.Leu806Val) | |
9 | g.137800946C>T | CA467877647 | EHMT1 | c.2674C>T (p.Leu892=) c.2560C>T (p.Leu854=) c.2581C>T (p.Leu861=) c.2714C>T (n.2714C>T) c.568C>T (p.Leu190=) c.352C>T (p.Leu118=) c.1531C>T (p.Leu511=) c.244C>T (p.Leu82=) c.252C>T n.200C>T c.2665C>T (p.Leu889=) c.2656C>T (p.Leu886=) c.2683C>T (p.Leu895=) c.2680C>T (p.Leu894=) c.2662C>T (p.Leu888=) c.2605C>T (p.Leu869=) c.2539C>T (p.Leu847=) c.1105C>T (p.Leu369=) c.457C>T (p.Leu153=) c.2518C>T (p.Leu840=) c.2653C>T (p.Leu885=) c.2659C>T (p.Leu887=) c.2575C>T (p.Leu859=) c.2503C>T (p.Leu835=) c.2437C>T (p.Leu813=) c.1798C>T (p.Leu600=) c.2416C>T (p.Leu806=) | |
9 | g.137800947T>A | CA375788950 | EHMT1 | c.2675T>A (p.Leu892Gln) c.2561T>A (p.Leu854Gln) c.2582T>A (p.Leu861Gln) c.2715T>A (n.2715T>A) c.569T>A (p.Leu190Gln) c.353T>A (p.Leu118Gln) c.1532T>A (p.Leu511Gln) c.245T>A (p.Leu82Gln) c.253T>A n.201T>A c.2666T>A (p.Leu889Gln) c.2657T>A (p.Leu886Gln) c.2684T>A (p.Leu895Gln) c.2681T>A (p.Leu894Gln) c.2663T>A (p.Leu888Gln) c.2606T>A (p.Leu869Gln) c.2540T>A (p.Leu847Gln) c.1106T>A (p.Leu369Gln) c.458T>A (p.Leu153Gln) c.2519T>A (p.Leu840Gln) c.2654T>A (p.Leu885Gln) c.2660T>A (p.Leu887Gln) c.2576T>A (p.Leu859Gln) c.2504T>A (p.Leu835Gln) c.2438T>A (p.Leu813Gln) c.1799T>A (p.Leu600Gln) c.2417T>A (p.Leu806Gln) | |
9 | g.137800947T>C | CA375788951 | EHMT1 | c.2675T>C (p.Leu892Pro) c.2561T>C (p.Leu854Pro) c.2582T>C (p.Leu861Pro) c.2715T>C (n.2715T>C) c.569T>C (p.Leu190Pro) c.353T>C (p.Leu118Pro) c.1532T>C (p.Leu511Pro) c.245T>C (p.Leu82Pro) c.253T>C n.201T>C c.2666T>C (p.Leu889Pro) c.2657T>C (p.Leu886Pro) c.2684T>C (p.Leu895Pro) c.2681T>C (p.Leu894Pro) c.2663T>C (p.Leu888Pro) c.2606T>C (p.Leu869Pro) c.2540T>C (p.Leu847Pro) c.1106T>C (p.Leu369Pro) c.458T>C (p.Leu153Pro) c.2519T>C (p.Leu840Pro) c.2654T>C (p.Leu885Pro) c.2660T>C (p.Leu887Pro) c.2576T>C (p.Leu859Pro) c.2504T>C (p.Leu835Pro) c.2438T>C (p.Leu813Pro) c.1799T>C (p.Leu600Pro) c.2417T>C (p.Leu806Pro) | |
9 | g.137800947T>G | CA375788953 | EHMT1 | c.2675T>G (p.Leu892Arg) c.2561T>G (p.Leu854Arg) c.2582T>G (p.Leu861Arg) c.2715T>G (n.2715T>G) c.569T>G (p.Leu190Arg) c.353T>G (p.Leu118Arg) c.1532T>G (p.Leu511Arg) c.245T>G (p.Leu82Arg) c.253T>G n.201T>G c.2666T>G (p.Leu889Arg) c.2657T>G (p.Leu886Arg) c.2684T>G (p.Leu895Arg) c.2681T>G (p.Leu894Arg) c.2663T>G (p.Leu888Arg) c.2606T>G (p.Leu869Arg) c.2540T>G (p.Leu847Arg) c.1106T>G (p.Leu369Arg) c.458T>G (p.Leu153Arg) c.2519T>G (p.Leu840Arg) c.2654T>G (p.Leu885Arg) c.2660T>G (p.Leu887Arg) c.2576T>G (p.Leu859Arg) c.2504T>G (p.Leu835Arg) c.2438T>G (p.Leu813Arg) c.1799T>G (p.Leu600Arg) c.2417T>G (p.Leu806Arg) | |
9 | g.137800948G>A | CA467877648 | EHMT1 | c.2676G>A (p.Leu892=) c.2562G>A (p.Leu854=) c.2583G>A (p.Leu861=) c.2716G>A (n.2716G>A) c.570G>A (p.Leu190=) c.354G>A (p.Leu118=) c.1533G>A (p.Leu511=) c.246G>A (p.Leu82=) c.254G>A n.202G>A c.2667G>A (p.Leu889=) c.2658G>A (p.Leu886=) c.2685G>A (p.Leu895=) c.2682G>A (p.Leu894=) c.2664G>A (p.Leu888=) c.2607G>A (p.Leu869=) c.2541G>A (p.Leu847=) c.1107G>A (p.Leu369=) c.459G>A (p.Leu153=) c.2520G>A (p.Leu840=) c.2655G>A (p.Leu885=) c.2661G>A (p.Leu887=) c.2577G>A (p.Leu859=) c.2505G>A (p.Leu835=) c.2439G>A (p.Leu813=) c.1800G>A (p.Leu600=) c.2418G>A (p.Leu806=) | |
9 | g.137800948G>C | CA467877649 | EHMT1 | c.2676G>C (p.Leu892=) c.2562G>C (p.Leu854=) c.2583G>C (p.Leu861=) c.2716G>C (n.2716G>C) c.570G>C (p.Leu190=) c.354G>C (p.Leu118=) c.1533G>C (p.Leu511=) c.246G>C (p.Leu82=) c.254G>C n.202G>C c.2667G>C (p.Leu889=) c.2658G>C (p.Leu886=) c.2685G>C (p.Leu895=) c.2682G>C (p.Leu894=) c.2664G>C (p.Leu888=) c.2607G>C (p.Leu869=) c.2541G>C (p.Leu847=) c.1107G>C (p.Leu369=) c.459G>C (p.Leu153=) c.2520G>C (p.Leu840=) c.2655G>C (p.Leu885=) c.2661G>C (p.Leu887=) c.2577G>C (p.Leu859=) c.2505G>C (p.Leu835=) c.2439G>C (p.Leu813=) c.1800G>C (p.Leu600=) c.2418G>C (p.Leu806=) | |
9 | g.137800948G>T | CA467877650 | EHMT1 | c.2676G>T (p.Leu892=) c.2562G>T (p.Leu854=) c.2583G>T (p.Leu861=) c.2716G>T (n.2716G>T) c.570G>T (p.Leu190=) c.354G>T (p.Leu118=) c.1533G>T (p.Leu511=) c.246G>T (p.Leu82=) c.254G>T n.202G>T c.2667G>T (p.Leu889=) c.2658G>T (p.Leu886=) c.2685G>T (p.Leu895=) c.2682G>T (p.Leu894=) c.2664G>T (p.Leu888=) c.2607G>T (p.Leu869=) c.2541G>T (p.Leu847=) c.1107G>T (p.Leu369=) c.459G>T (p.Leu153=) c.2520G>T (p.Leu840=) c.2655G>T (p.Leu885=) c.2661G>T (p.Leu887=) c.2577G>T (p.Leu859=) c.2505G>T (p.Leu835=) c.2439G>T (p.Leu813=) c.1800G>T (p.Leu600=) c.2418G>T (p.Leu806=) | |
9 | g.137800949C>A | CA375788955 | EHMT1 | c.2677C>A (p.Leu893Met) c.2563C>A (p.Leu855Met) c.2584C>A (p.Leu862Met) c.2717C>A (n.2717C>A) c.571C>A (p.Leu191Met) c.355C>A (p.Leu119Met) c.1534C>A (p.Leu512Met) c.247C>A (p.Leu83Met) c.255C>A n.203C>A c.2668C>A (p.Leu890Met) c.2659C>A (p.Leu887Met) c.2686C>A (p.Leu896Met) c.2683C>A (p.Leu895Met) c.2665C>A (p.Leu889Met) c.2608C>A (p.Leu870Met) c.2542C>A (p.Leu848Met) c.1108C>A (p.Leu370Met) c.460C>A (p.Leu154Met) c.2521C>A (p.Leu841Met) c.2656C>A (p.Leu886Met) c.2662C>A (p.Leu888Met) c.2578C>A (p.Leu860Met) c.2506C>A (p.Leu836Met) c.2440C>A (p.Leu814Met) c.1801C>A (p.Leu601Met) c.2419C>A (p.Leu807Met) | |
9 | g.137800949C>G | CA375788957 | EHMT1 | c.2677C>G (p.Leu893Val) c.2563C>G (p.Leu855Val) c.2584C>G (p.Leu862Val) c.2717C>G (n.2717C>G) c.571C>G (p.Leu191Val) c.355C>G (p.Leu119Val) c.1534C>G (p.Leu512Val) c.247C>G (p.Leu83Val) c.255C>G n.203C>G c.2668C>G (p.Leu890Val) c.2659C>G (p.Leu887Val) c.2686C>G (p.Leu896Val) c.2683C>G (p.Leu895Val) c.2665C>G (p.Leu889Val) c.2608C>G (p.Leu870Val) c.2542C>G (p.Leu848Val) c.1108C>G (p.Leu370Val) c.460C>G (p.Leu154Val) c.2521C>G (p.Leu841Val) c.2656C>G (p.Leu886Val) c.2662C>G (p.Leu888Val) c.2578C>G (p.Leu860Val) c.2506C>G (p.Leu836Val) c.2440C>G (p.Leu814Val) c.1801C>G (p.Leu601Val) c.2419C>G (p.Leu807Val) | |
9 | g.137800949C>T | CA467877651 | EHMT1 | c.2677C>T (p.Leu893=) c.2563C>T (p.Leu855=) c.2584C>T (p.Leu862=) c.2717C>T (n.2717C>T) c.571C>T (p.Leu191=) c.355C>T (p.Leu119=) c.1534C>T (p.Leu512=) c.247C>T (p.Leu83=) c.255C>T n.203C>T c.2668C>T (p.Leu890=) c.2659C>T (p.Leu887=) c.2686C>T (p.Leu896=) c.2683C>T (p.Leu895=) c.2665C>T (p.Leu889=) c.2608C>T (p.Leu870=) c.2542C>T (p.Leu848=) c.1108C>T (p.Leu370=) c.460C>T (p.Leu154=) c.2521C>T (p.Leu841=) c.2656C>T (p.Leu886=) c.2662C>T (p.Leu888=) c.2578C>T (p.Leu860=) c.2506C>T (p.Leu836=) c.2440C>T (p.Leu814=) c.1801C>T (p.Leu601=) c.2419C>T (p.Leu807=) | gnomAD v4 |
9 | g.137800950T>A | CA375788959 | EHMT1 | c.2678T>A (p.Leu893Gln) c.2564T>A (p.Leu855Gln) c.2585T>A (p.Leu862Gln) c.2718T>A (n.2718T>A) c.572T>A (p.Leu191Gln) c.356T>A (p.Leu119Gln) c.1535T>A (p.Leu512Gln) c.248T>A (p.Leu83Gln) c.256T>A n.204T>A c.2669T>A (p.Leu890Gln) c.2660T>A (p.Leu887Gln) c.2687T>A (p.Leu896Gln) c.2684T>A (p.Leu895Gln) c.2666T>A (p.Leu889Gln) c.2609T>A (p.Leu870Gln) c.2543T>A (p.Leu848Gln) c.1109T>A (p.Leu370Gln) c.461T>A (p.Leu154Gln) c.2522T>A (p.Leu841Gln) c.2657T>A (p.Leu886Gln) c.2663T>A (p.Leu888Gln) c.2579T>A (p.Leu860Gln) c.2507T>A (p.Leu836Gln) c.2441T>A (p.Leu814Gln) c.1802T>A (p.Leu601Gln) c.2420T>A (p.Leu807Gln) | |
9 | g.137800950T>C | CA375788961 | EHMT1 | c.2678T>C (p.Leu893Pro) c.2564T>C (p.Leu855Pro) c.2585T>C (p.Leu862Pro) c.2718T>C (n.2718T>C) c.572T>C (p.Leu191Pro) c.356T>C (p.Leu119Pro) c.1535T>C (p.Leu512Pro) c.248T>C (p.Leu83Pro) c.256T>C n.204T>C c.2669T>C (p.Leu890Pro) c.2660T>C (p.Leu887Pro) c.2687T>C (p.Leu896Pro) c.2684T>C (p.Leu895Pro) c.2666T>C (p.Leu889Pro) c.2609T>C (p.Leu870Pro) c.2543T>C (p.Leu848Pro) c.1109T>C (p.Leu370Pro) c.461T>C (p.Leu154Pro) c.2522T>C (p.Leu841Pro) c.2657T>C (p.Leu886Pro) c.2663T>C (p.Leu888Pro) c.2579T>C (p.Leu860Pro) c.2507T>C (p.Leu836Pro) c.2441T>C (p.Leu814Pro) c.1802T>C (p.Leu601Pro) c.2420T>C (p.Leu807Pro) | |
9 | g.137800950T>G | CA375788958 | EHMT1 | c.2678T>G (p.Leu893Arg) c.2564T>G (p.Leu855Arg) c.2585T>G (p.Leu862Arg) c.2718T>G (n.2718T>G) c.572T>G (p.Leu191Arg) c.356T>G (p.Leu119Arg) c.1535T>G (p.Leu512Arg) c.248T>G (p.Leu83Arg) c.256T>G n.204T>G c.2669T>G (p.Leu890Arg) c.2660T>G (p.Leu887Arg) c.2687T>G (p.Leu896Arg) c.2684T>G (p.Leu895Arg) c.2666T>G (p.Leu889Arg) c.2609T>G (p.Leu870Arg) c.2543T>G (p.Leu848Arg) c.1109T>G (p.Leu370Arg) c.461T>G (p.Leu154Arg) c.2522T>G (p.Leu841Arg) c.2657T>G (p.Leu886Arg) c.2663T>G (p.Leu888Arg) c.2579T>G (p.Leu860Arg) c.2507T>G (p.Leu836Arg) c.2441T>G (p.Leu814Arg) c.1802T>G (p.Leu601Arg) c.2420T>G (p.Leu807Arg) | |
9 | g.137800951G>A | CA467877654 | EHMT1 | c.2679G>A (p.Leu893=) c.2565G>A (p.Leu855=) c.2586G>A (p.Leu862=) c.2719G>A (n.2719G>A) c.573G>A (p.Leu191=) c.357G>A (p.Leu119=) c.1536G>A (p.Leu512=) c.249G>A (p.Leu83=) c.257G>A n.205G>A c.2670G>A (p.Leu890=) c.2661G>A (p.Leu887=) c.2688G>A (p.Leu896=) c.2685G>A (p.Leu895=) c.2667G>A (p.Leu889=) c.2610G>A (p.Leu870=) c.2544G>A (p.Leu848=) c.1110G>A (p.Leu370=) c.462G>A (p.Leu154=) c.2523G>A (p.Leu841=) c.2658G>A (p.Leu886=) c.2664G>A (p.Leu888=) c.2580G>A (p.Leu860=) c.2508G>A (p.Leu836=) c.2442G>A (p.Leu814=) c.1803G>A (p.Leu601=) c.2421G>A (p.Leu807=) | |
9 | g.137800951G>C | CA467877656 | EHMT1 | c.2679G>C (p.Leu893=) c.2565G>C (p.Leu855=) c.2586G>C (p.Leu862=) c.2719G>C (n.2719G>C) c.573G>C (p.Leu191=) c.357G>C (p.Leu119=) c.1536G>C (p.Leu512=) c.249G>C (p.Leu83=) c.257G>C n.205G>C c.2670G>C (p.Leu890=) c.2661G>C (p.Leu887=) c.2688G>C (p.Leu896=) c.2685G>C (p.Leu895=) c.2667G>C (p.Leu889=) c.2610G>C (p.Leu870=) c.2544G>C (p.Leu848=) c.1110G>C (p.Leu370=) c.462G>C (p.Leu154=) c.2523G>C (p.Leu841=) c.2658G>C (p.Leu886=) c.2664G>C (p.Leu888=) c.2580G>C (p.Leu860=) c.2508G>C (p.Leu836=) c.2442G>C (p.Leu814=) c.1803G>C (p.Leu601=) c.2421G>C (p.Leu807=) | |
9 | g.137800951G>T | CA467877657 | EHMT1 | c.2679G>T (p.Leu893=) c.2565G>T (p.Leu855=) c.2586G>T (p.Leu862=) c.2719G>T (n.2719G>T) c.573G>T (p.Leu191=) c.357G>T (p.Leu119=) c.1536G>T (p.Leu512=) c.249G>T (p.Leu83=) c.257G>T n.205G>T c.2670G>T (p.Leu890=) c.2661G>T (p.Leu887=) c.2688G>T (p.Leu896=) c.2685G>T (p.Leu895=) c.2667G>T (p.Leu889=) c.2610G>T (p.Leu870=) c.2544G>T (p.Leu848=) c.1110G>T (p.Leu370=) c.462G>T (p.Leu154=) c.2523G>T (p.Leu841=) c.2658G>T (p.Leu886=) c.2664G>T (p.Leu888=) c.2580G>T (p.Leu860=) c.2508G>T (p.Leu836=) c.2442G>T (p.Leu814=) c.1803G>T (p.Leu601=) c.2421G>T (p.Leu807=) | |
9 | g.137800952T>A | CA375788962 | EHMT1 | c.2680T>A (p.Ser894Thr) c.2566T>A (p.Ser856Thr) c.2587T>A (p.Ser863Thr) c.2720T>A (n.2720T>A) c.574T>A (p.Ser192Thr) c.358T>A (p.Ser120Thr) c.1537T>A (p.Ser513Thr) c.250T>A (p.Ser84Thr) c.258T>A n.206T>A c.2671T>A (p.Ser891Thr) c.2662T>A (p.Ser888Thr) c.2689T>A (p.Ser897Thr) c.2686T>A (p.Ser896Thr) c.2668T>A (p.Ser890Thr) c.2611T>A (p.Ser871Thr) c.2545T>A (p.Ser849Thr) c.1111T>A (p.Ser371Thr) c.463T>A (p.Ser155Thr) c.2524T>A (p.Ser842Thr) c.2659T>A (p.Ser887Thr) c.2665T>A (p.Ser889Thr) c.2581T>A (p.Ser861Thr) c.2509T>A (p.Ser837Thr) c.2443T>A (p.Ser815Thr) c.1804T>A (p.Ser602Thr) c.2422T>A (p.Ser808Thr) | |
9 | g.137800952T>C | CA375788964 | EHMT1 | c.2680T>C (p.Ser894Pro) c.2566T>C (p.Ser856Pro) c.2587T>C (p.Ser863Pro) c.2720T>C (n.2720T>C) c.574T>C (p.Ser192Pro) c.358T>C (p.Ser120Pro) c.1537T>C (p.Ser513Pro) c.250T>C (p.Ser84Pro) c.258T>C n.206T>C c.2671T>C (p.Ser891Pro) c.2662T>C (p.Ser888Pro) c.2689T>C (p.Ser897Pro) c.2686T>C (p.Ser896Pro) c.2668T>C (p.Ser890Pro) c.2611T>C (p.Ser871Pro) c.2545T>C (p.Ser849Pro) c.1111T>C (p.Ser371Pro) c.463T>C (p.Ser155Pro) c.2524T>C (p.Ser842Pro) c.2659T>C (p.Ser887Pro) c.2665T>C (p.Ser889Pro) c.2581T>C (p.Ser861Pro) c.2509T>C (p.Ser837Pro) c.2443T>C (p.Ser815Pro) c.1804T>C (p.Ser602Pro) c.2422T>C (p.Ser808Pro) | |
9 | g.137800952T>G | CA375788965 | EHMT1 | c.2680T>G (p.Ser894Ala) c.2566T>G (p.Ser856Ala) c.2587T>G (p.Ser863Ala) c.2720T>G (n.2720T>G) c.574T>G (p.Ser192Ala) c.358T>G (p.Ser120Ala) c.1537T>G (p.Ser513Ala) c.250T>G (p.Ser84Ala) c.258T>G n.206T>G c.2671T>G (p.Ser891Ala) c.2662T>G (p.Ser888Ala) c.2689T>G (p.Ser897Ala) c.2686T>G (p.Ser896Ala) c.2668T>G (p.Ser890Ala) c.2611T>G (p.Ser871Ala) c.2545T>G (p.Ser849Ala) c.1111T>G (p.Ser371Ala) c.463T>G (p.Ser155Ala) c.2524T>G (p.Ser842Ala) c.2659T>G (p.Ser887Ala) c.2665T>G (p.Ser889Ala) c.2581T>G (p.Ser861Ala) c.2509T>G (p.Ser837Ala) c.2443T>G (p.Ser815Ala) c.1804T>G (p.Ser602Ala) c.2422T>G (p.Ser808Ala) | |
9 | g.137800953C>A | CA375788967 | EHMT1 | c.2681C>A (p.Ser894Tyr) c.2567C>A (p.Ser856Tyr) c.2588C>A (p.Ser863Tyr) c.2721C>A (n.2721C>A) c.575C>A (p.Ser192Tyr) c.359C>A (p.Ser120Tyr) c.1538C>A (p.Ser513Tyr) c.251C>A (p.Ser84Tyr) c.259C>A n.207C>A c.2672C>A (p.Ser891Tyr) c.2663C>A (p.Ser888Tyr) c.2690C>A (p.Ser897Tyr) c.2687C>A (p.Ser896Tyr) c.2669C>A (p.Ser890Tyr) c.2612C>A (p.Ser871Tyr) c.2546C>A (p.Ser849Tyr) c.1112C>A (p.Ser371Tyr) c.464C>A (p.Ser155Tyr) c.2525C>A (p.Ser842Tyr) c.2660C>A (p.Ser887Tyr) c.2666C>A (p.Ser889Tyr) c.2582C>A (p.Ser861Tyr) c.2510C>A (p.Ser837Tyr) c.2444C>A (p.Ser815Tyr) c.1805C>A (p.Ser602Tyr) c.2423C>A (p.Ser808Tyr) | |
9 | g.137800953C>G | CA375788969 | EHMT1 | c.2681C>G (p.Ser894Cys) c.2567C>G (p.Ser856Cys) c.2588C>G (p.Ser863Cys) c.2721C>G (n.2721C>G) c.575C>G (p.Ser192Cys) c.359C>G (p.Ser120Cys) c.1538C>G (p.Ser513Cys) c.251C>G (p.Ser84Cys) c.259C>G n.207C>G c.2672C>G (p.Ser891Cys) c.2663C>G (p.Ser888Cys) c.2690C>G (p.Ser897Cys) c.2687C>G (p.Ser896Cys) c.2669C>G (p.Ser890Cys) c.2612C>G (p.Ser871Cys) c.2546C>G (p.Ser849Cys) c.1112C>G (p.Ser371Cys) c.464C>G (p.Ser155Cys) c.2525C>G (p.Ser842Cys) c.2660C>G (p.Ser887Cys) c.2666C>G (p.Ser889Cys) c.2582C>G (p.Ser861Cys) c.2510C>G (p.Ser837Cys) c.2444C>G (p.Ser815Cys) c.1805C>G (p.Ser602Cys) c.2423C>G (p.Ser808Cys) | |
9 | g.137800953C>T | CA375788970 | EHMT1 | c.2681C>T (p.Ser894Phe) c.2567C>T (p.Ser856Phe) c.2588C>T (p.Ser863Phe) c.2721C>T (n.2721C>T) c.575C>T (p.Ser192Phe) c.359C>T (p.Ser120Phe) c.1538C>T (p.Ser513Phe) c.251C>T (p.Ser84Phe) c.259C>T n.207C>T c.2672C>T (p.Ser891Phe) c.2663C>T (p.Ser888Phe) c.2690C>T (p.Ser897Phe) c.2687C>T (p.Ser896Phe) c.2669C>T (p.Ser890Phe) c.2612C>T (p.Ser871Phe) c.2546C>T (p.Ser849Phe) c.1112C>T (p.Ser371Phe) c.464C>T (p.Ser155Phe) c.2525C>T (p.Ser842Phe) c.2660C>T (p.Ser887Phe) c.2666C>T (p.Ser889Phe) c.2582C>T (p.Ser861Phe) c.2510C>T (p.Ser837Phe) c.2444C>T (p.Ser815Phe) c.1805C>T (p.Ser602Phe) c.2423C>T (p.Ser808Phe) | |
9 | g.137800954C>A | CA467877660 | EHMT1 | c.2682C>A (p.Ser894=) c.2568C>A (p.Ser856=) c.2589C>A (p.Ser863=) c.2722C>A (n.2722C>A) c.576C>A (p.Ser192=) c.360C>A (p.Ser120=) c.1539C>A (p.Ser513=) c.252C>A (p.Ser84=) c.260C>A n.208C>A c.2673C>A (p.Ser891=) c.2664C>A (p.Ser888=) c.2691C>A (p.Ser897=) c.2688C>A (p.Ser896=) c.2670C>A (p.Ser890=) c.2613C>A (p.Ser871=) c.2547C>A (p.Ser849=) c.1113C>A (p.Ser371=) c.465C>A (p.Ser155=) c.2526C>A (p.Ser842=) c.2661C>A (p.Ser887=) c.2667C>A (p.Ser889=) c.2583C>A (p.Ser861=) c.2511C>A (p.Ser837=) c.2445C>A (p.Ser815=) c.1806C>A (p.Ser602=) c.2424C>A (p.Ser808=) | |
9 | g.137800954C= | CA1884679283 | EHMT1 | c.2682C= (p.Ser894=) c.2568C= (p.Ser856=) c.2589C= (p.Ser863=) c.2722C= (n.2722C=) c.576C= (p.Ser192=) c.360C= (p.Ser120=) c.1539C= (p.Ser513=) c.252C= (p.Ser84=) c.260C= n.208C= c.2673C= (p.Ser891=) c.2664C= (p.Ser888=) c.2691C= (p.Ser897=) c.2688C= (p.Ser896=) c.2670C= (p.Ser890=) c.2613C= (p.Ser871=) c.2547C= (p.Ser849=) c.1113C= (p.Ser371=) c.465C= (p.Ser155=) c.2526C= (p.Ser842=) c.2661C= (p.Ser887=) c.2667C= (p.Ser889=) c.2583C= (p.Ser861=) c.2511C= (p.Ser837=) c.2445C= (p.Ser815=) c.1806C= (p.Ser602=) c.2424C= (p.Ser808=) | |
9 | g.137800954C>G | CA467877658 | EHMT1 | c.2682C>G (p.Ser894=) c.2568C>G (p.Ser856=) c.2589C>G (p.Ser863=) c.2722C>G (n.2722C>G) c.576C>G (p.Ser192=) c.360C>G (p.Ser120=) c.1539C>G (p.Ser513=) c.252C>G (p.Ser84=) c.260C>G n.208C>G c.2673C>G (p.Ser891=) c.2664C>G (p.Ser888=) c.2691C>G (p.Ser897=) c.2688C>G (p.Ser896=) c.2670C>G (p.Ser890=) c.2613C>G (p.Ser871=) c.2547C>G (p.Ser849=) c.1113C>G (p.Ser371=) c.465C>G (p.Ser155=) c.2526C>G (p.Ser842=) c.2661C>G (p.Ser887=) c.2667C>G (p.Ser889=) c.2583C>G (p.Ser861=) c.2511C>G (p.Ser837=) c.2445C>G (p.Ser815=) c.1806C>G (p.Ser602=) c.2424C>G (p.Ser808=) | |
9 | g.137800954C>T | CA467877659 | EHMT1 | c.2682C>T (p.Ser894=) c.2568C>T (p.Ser856=) c.2589C>T (p.Ser863=) c.2722C>T (n.2722C>T) c.576C>T (p.Ser192=) c.360C>T (p.Ser120=) c.1539C>T (p.Ser513=) c.252C>T (p.Ser84=) c.260C>T n.208C>T c.2673C>T (p.Ser891=) c.2664C>T (p.Ser888=) c.2691C>T (p.Ser897=) c.2688C>T (p.Ser896=) c.2670C>T (p.Ser890=) c.2613C>T (p.Ser871=) c.2547C>T (p.Ser849=) c.1113C>T (p.Ser371=) c.465C>T (p.Ser155=) c.2526C>T (p.Ser842=) c.2661C>T (p.Ser887=) c.2667C>T (p.Ser889=) c.2583C>T (p.Ser861=) c.2511C>T (p.Ser837=) c.2445C>T (p.Ser815=) c.1806C>T (p.Ser602=) c.2424C>T (p.Ser808=) | dbSNP |
9 | g.137800955A= | CA1884679284 | EHMT1 | c.2683A= (p.Lys895=) c.2569A= (p.Lys857=) c.2590A= (p.Lys864=) c.2723A= (n.2723A=) c.577A= (p.Lys193=) c.361A= (p.Lys121=) c.1540A= (p.Lys514=) c.253A= (p.Lys85=) c.261A= n.209A= c.2674A= (p.Lys892=) c.2665A= (p.Lys889=) c.2692A= (p.Lys898=) c.2689A= (p.Lys897=) c.2671A= (p.Lys891=) c.2614A= (p.Lys872=) c.2548A= (p.Lys850=) c.1114A= (p.Lys372=) c.466A= (p.Lys156=) c.2527A= (p.Lys843=) c.2662A= (p.Lys888=) c.2668A= (p.Lys890=) c.2584A= (p.Lys862=) c.2512A= (p.Lys838=) c.2446A= (p.Lys816=) c.1807A= (p.Lys603=) c.2425A= (p.Lys809=) | |
9 | g.137800955A>C | CA375788974 | EHMT1 | c.2683A>C (p.Lys895Gln) c.2569A>C (p.Lys857Gln) c.2590A>C (p.Lys864Gln) c.2723A>C (n.2723A>C) c.577A>C (p.Lys193Gln) c.361A>C (p.Lys121Gln) c.1540A>C (p.Lys514Gln) c.253A>C (p.Lys85Gln) c.261A>C n.209A>C c.2674A>C (p.Lys892Gln) c.2665A>C (p.Lys889Gln) c.2692A>C (p.Lys898Gln) c.2689A>C (p.Lys897Gln) c.2671A>C (p.Lys891Gln) c.2614A>C (p.Lys872Gln) c.2548A>C (p.Lys850Gln) c.1114A>C (p.Lys372Gln) c.466A>C (p.Lys156Gln) c.2527A>C (p.Lys843Gln) c.2662A>C (p.Lys888Gln) c.2668A>C (p.Lys890Gln) c.2584A>C (p.Lys862Gln) c.2512A>C (p.Lys838Gln) c.2446A>C (p.Lys816Gln) c.1807A>C (p.Lys603Gln) c.2425A>C (p.Lys809Gln) | |
9 | g.137800955A>G | CA375788972 | EHMT1 | c.2683A>G (p.Lys895Glu) c.2569A>G (p.Lys857Glu) c.2590A>G (p.Lys864Glu) c.2723A>G (n.2723A>G) c.577A>G (p.Lys193Glu) c.361A>G (p.Lys121Glu) c.1540A>G (p.Lys514Glu) c.253A>G (p.Lys85Glu) c.261A>G n.209A>G c.2674A>G (p.Lys892Glu) c.2665A>G (p.Lys889Glu) c.2692A>G (p.Lys898Glu) c.2689A>G (p.Lys897Glu) c.2671A>G (p.Lys891Glu) c.2614A>G (p.Lys872Glu) c.2548A>G (p.Lys850Glu) c.1114A>G (p.Lys372Glu) c.466A>G (p.Lys156Glu) c.2527A>G (p.Lys843Glu) c.2662A>G (p.Lys888Glu) c.2668A>G (p.Lys890Glu) c.2584A>G (p.Lys862Glu) c.2512A>G (p.Lys838Glu) c.2446A>G (p.Lys816Glu) c.1807A>G (p.Lys603Glu) c.2425A>G (p.Lys809Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.137800955A>T | CA375788973 | EHMT1 | c.2683A>T (p.Lys895Ter) c.2569A>T (p.Lys857Ter) c.2590A>T (p.Lys864Ter) c.2723A>T (n.2723A>T) c.577A>T (p.Lys193Ter) c.361A>T (p.Lys121Ter) c.1540A>T (p.Lys514Ter) c.253A>T (p.Lys85Ter) c.261A>T n.209A>T c.2674A>T (p.Lys892Ter) c.2665A>T (p.Lys889Ter) c.2692A>T (p.Lys898Ter) c.2689A>T (p.Lys897Ter) c.2671A>T (p.Lys891Ter) c.2614A>T (p.Lys872Ter) c.2548A>T (p.Lys850Ter) c.1114A>T (p.Lys372Ter) c.466A>T (p.Lys156Ter) c.2527A>T (p.Lys843Ter) c.2662A>T (p.Lys888Ter) c.2668A>T (p.Lys890Ter) c.2584A>T (p.Lys862Ter) c.2512A>T (p.Lys838Ter) c.2446A>T (p.Lys816Ter) c.1807A>T (p.Lys603Ter) c.2425A>T (p.Lys809Ter) | |
9 | g.137800956A>C | CA375788976 | EHMT1 | c.2684A>C (p.Lys895Thr) c.2570A>C (p.Lys857Thr) c.2591A>C (p.Lys864Thr) c.2724A>C (n.2724A>C) c.578A>C (p.Lys193Thr) c.362A>C (p.Lys121Thr) c.1541A>C (p.Lys514Thr) c.254A>C (p.Lys85Thr) c.262A>C n.210A>C c.2675A>C (p.Lys892Thr) c.2666A>C (p.Lys889Thr) c.2693A>C (p.Lys898Thr) c.2690A>C (p.Lys897Thr) c.2672A>C (p.Lys891Thr) c.2615A>C (p.Lys872Thr) c.2549A>C (p.Lys850Thr) c.1115A>C (p.Lys372Thr) c.467A>C (p.Lys156Thr) c.2528A>C (p.Lys843Thr) c.2663A>C (p.Lys888Thr) c.2669A>C (p.Lys890Thr) c.2585A>C (p.Lys862Thr) c.2513A>C (p.Lys838Thr) c.2447A>C (p.Lys816Thr) c.1808A>C (p.Lys603Thr) c.2426A>C (p.Lys809Thr) | |
9 | g.137800956A>G | CA375788977 | EHMT1 | c.2684A>G (p.Lys895Arg) c.2570A>G (p.Lys857Arg) c.2591A>G (p.Lys864Arg) c.2724A>G (n.2724A>G) c.578A>G (p.Lys193Arg) c.362A>G (p.Lys121Arg) c.1541A>G (p.Lys514Arg) c.254A>G (p.Lys85Arg) c.262A>G n.210A>G c.2675A>G (p.Lys892Arg) c.2666A>G (p.Lys889Arg) c.2693A>G (p.Lys898Arg) c.2690A>G (p.Lys897Arg) c.2672A>G (p.Lys891Arg) c.2615A>G (p.Lys872Arg) c.2549A>G (p.Lys850Arg) c.1115A>G (p.Lys372Arg) c.467A>G (p.Lys156Arg) c.2528A>G (p.Lys843Arg) c.2663A>G (p.Lys888Arg) c.2669A>G (p.Lys890Arg) c.2585A>G (p.Lys862Arg) c.2513A>G (p.Lys838Arg) c.2447A>G (p.Lys816Arg) c.1808A>G (p.Lys603Arg) c.2426A>G (p.Lys809Arg) | gnomAD v4 |
9 | g.137800956A>T | CA375788978 | EHMT1 | c.2684A>T (p.Lys895Met) c.2570A>T (p.Lys857Met) c.2591A>T (p.Lys864Met) c.2724A>T (n.2724A>T) c.578A>T (p.Lys193Met) c.362A>T (p.Lys121Met) c.1541A>T (p.Lys514Met) c.254A>T (p.Lys85Met) c.262A>T n.210A>T c.2675A>T (p.Lys892Met) c.2666A>T (p.Lys889Met) c.2693A>T (p.Lys898Met) c.2690A>T (p.Lys897Met) c.2672A>T (p.Lys891Met) c.2615A>T (p.Lys872Met) c.2549A>T (p.Lys850Met) c.1115A>T (p.Lys372Met) c.467A>T (p.Lys156Met) c.2528A>T (p.Lys843Met) c.2663A>T (p.Lys888Met) c.2669A>T (p.Lys890Met) c.2585A>T (p.Lys862Met) c.2513A>T (p.Lys838Met) c.2447A>T (p.Lys816Met) c.1808A>T (p.Lys603Met) c.2426A>T (p.Lys809Met) | |
9 | g.137800957G>A | CA467877661 | EHMT1 | c.2685G>A (p.Lys895=) c.2571G>A (p.Lys857=) c.2592G>A (p.Lys864=) c.2725G>A (n.2725G>A) c.579G>A (p.Lys193=) c.363G>A (p.Lys121=) c.1542G>A (p.Lys514=) c.255G>A (p.Lys85=) c.263G>A n.211G>A c.2676G>A (p.Lys892=) c.2667G>A (p.Lys889=) c.2694G>A (p.Lys898=) c.2691G>A (p.Lys897=) c.2673G>A (p.Lys891=) c.2616G>A (p.Lys872=) c.2550G>A (p.Lys850=) c.1116G>A (p.Lys372=) c.468G>A (p.Lys156=) c.2529G>A (p.Lys843=) c.2664G>A (p.Lys888=) c.2670G>A (p.Lys890=) c.2586G>A (p.Lys862=) c.2514G>A (p.Lys838=) c.2448G>A (p.Lys816=) c.1809G>A (p.Lys603=) c.2427G>A (p.Lys809=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.137800957G>C | CA375788980 | EHMT1 | c.2685G>C (p.Lys895Asn) c.2571G>C (p.Lys857Asn) c.2592G>C (p.Lys864Asn) c.2725G>C (n.2725G>C) c.579G>C (p.Lys193Asn) c.363G>C (p.Lys121Asn) c.1542G>C (p.Lys514Asn) c.255G>C (p.Lys85Asn) c.263G>C n.211G>C c.2676G>C (p.Lys892Asn) c.2667G>C (p.Lys889Asn) c.2694G>C (p.Lys898Asn) c.2691G>C (p.Lys897Asn) c.2673G>C (p.Lys891Asn) c.2616G>C (p.Lys872Asn) c.2550G>C (p.Lys850Asn) c.1116G>C (p.Lys372Asn) c.468G>C (p.Lys156Asn) c.2529G>C (p.Lys843Asn) c.2664G>C (p.Lys888Asn) c.2670G>C (p.Lys890Asn) c.2586G>C (p.Lys862Asn) c.2514G>C (p.Lys838Asn) c.2448G>C (p.Lys816Asn) c.1809G>C (p.Lys603Asn) c.2427G>C (p.Lys809Asn) | dbSNP |
9 | g.137800957G= | CA1884679285 | EHMT1 | c.2685G= (p.Lys895=) c.2571G= (p.Lys857=) c.2592G= (p.Lys864=) c.2725G= (n.2725G=) c.579G= (p.Lys193=) c.363G= (p.Lys121=) c.1542G= (p.Lys514=) c.255G= (p.Lys85=) c.263G= n.211G= c.2676G= (p.Lys892=) c.2667G= (p.Lys889=) c.2694G= (p.Lys898=) c.2691G= (p.Lys897=) c.2673G= (p.Lys891=) c.2616G= (p.Lys872=) c.2550G= (p.Lys850=) c.1116G= (p.Lys372=) c.468G= (p.Lys156=) c.2529G= (p.Lys843=) c.2664G= (p.Lys888=) c.2670G= (p.Lys890=) c.2586G= (p.Lys862=) c.2514G= (p.Lys838=) c.2448G= (p.Lys816=) c.1809G= (p.Lys603=) c.2427G= (p.Lys809=) | |
9 | g.137800957G>T | CA375788982 | EHMT1 | c.2685G>T (p.Lys895Asn) c.2571G>T (p.Lys857Asn) c.2592G>T (p.Lys864Asn) c.2725G>T (n.2725G>T) c.579G>T (p.Lys193Asn) c.363G>T (p.Lys121Asn) c.1542G>T (p.Lys514Asn) c.255G>T (p.Lys85Asn) c.263G>T n.211G>T c.2676G>T (p.Lys892Asn) c.2667G>T (p.Lys889Asn) c.2694G>T (p.Lys898Asn) c.2691G>T (p.Lys897Asn) c.2673G>T (p.Lys891Asn) c.2616G>T (p.Lys872Asn) c.2550G>T (p.Lys850Asn) c.1116G>T (p.Lys372Asn) c.468G>T (p.Lys156Asn) c.2529G>T (p.Lys843Asn) c.2664G>T (p.Lys888Asn) c.2670G>T (p.Lys890Asn) c.2586G>T (p.Lys862Asn) c.2514G>T (p.Lys838Asn) c.2448G>T (p.Lys816Asn) c.1809G>T (p.Lys603Asn) c.2427G>T (p.Lys809Asn) | |
9 | g.137800958G>A | CA375788983 | EHMT1 | c.2686G>A (p.Gly896Ser) c.2572G>A (p.Gly858Ser) c.2593G>A (p.Gly865Ser) c.2726G>A (n.2726G>A) c.580G>A (p.Gly194Ser) c.364G>A (p.Gly122Ser) c.1543G>A (p.Gly515Ser) c.256G>A (p.Gly86Ser) c.264G>A n.212G>A c.2677G>A (p.Gly893Ser) c.2668G>A (p.Gly890Ser) c.2695G>A (p.Gly899Ser) c.2692G>A (p.Gly898Ser) c.2674G>A (p.Gly892Ser) c.2617G>A (p.Gly873Ser) c.2551G>A (p.Gly851Ser) c.1117G>A (p.Gly373Ser) c.469G>A (p.Gly157Ser) c.2530G>A (p.Gly844Ser) c.2665G>A (p.Gly889Ser) c.2671G>A (p.Gly891Ser) c.2587G>A (p.Gly863Ser) c.2515G>A (p.Gly839Ser) c.2449G>A (p.Gly817Ser) c.1810G>A (p.Gly604Ser) c.2428G>A (p.Gly810Ser) | dbSNP |
9 | g.137800958G>C | CA375788987 | EHMT1 | c.2686G>C (p.Gly896Arg) c.2572G>C (p.Gly858Arg) c.2593G>C (p.Gly865Arg) c.2726G>C (n.2726G>C) c.580G>C (p.Gly194Arg) c.364G>C (p.Gly122Arg) c.1543G>C (p.Gly515Arg) c.256G>C (p.Gly86Arg) c.264G>C n.212G>C c.2677G>C (p.Gly893Arg) c.2668G>C (p.Gly890Arg) c.2695G>C (p.Gly899Arg) c.2692G>C (p.Gly898Arg) c.2674G>C (p.Gly892Arg) c.2617G>C (p.Gly873Arg) c.2551G>C (p.Gly851Arg) c.1117G>C (p.Gly373Arg) c.469G>C (p.Gly157Arg) c.2530G>C (p.Gly844Arg) c.2665G>C (p.Gly889Arg) c.2671G>C (p.Gly891Arg) c.2587G>C (p.Gly863Arg) c.2515G>C (p.Gly839Arg) c.2449G>C (p.Gly817Arg) c.1810G>C (p.Gly604Arg) c.2428G>C (p.Gly810Arg) | |
9 | g.137800958G= | CA1884679286 | EHMT1 | c.2686G= (p.Gly896=) c.2572G= (p.Gly858=) c.2593G= (p.Gly865=) c.2726G= (n.2726G=) c.580G= (p.Gly194=) c.364G= (p.Gly122=) c.1543G= (p.Gly515=) c.256G= (p.Gly86=) c.264G= n.212G= c.2677G= (p.Gly893=) c.2668G= (p.Gly890=) c.2695G= (p.Gly899=) c.2692G= (p.Gly898=) c.2674G= (p.Gly892=) c.2617G= (p.Gly873=) c.2551G= (p.Gly851=) c.1117G= (p.Gly373=) c.469G= (p.Gly157=) c.2530G= (p.Gly844=) c.2665G= (p.Gly889=) c.2671G= (p.Gly891=) c.2587G= (p.Gly863=) c.2515G= (p.Gly839=) c.2449G= (p.Gly817=) c.1810G= (p.Gly604=) c.2428G= (p.Gly810=) | |
9 | g.137800958G>T | CA375788985 | EHMT1 | c.2686G>T (p.Gly896Cys) c.2572G>T (p.Gly858Cys) c.2593G>T (p.Gly865Cys) c.2726G>T (n.2726G>T) c.580G>T (p.Gly194Cys) c.364G>T (p.Gly122Cys) c.1543G>T (p.Gly515Cys) c.256G>T (p.Gly86Cys) c.264G>T n.212G>T c.2677G>T (p.Gly893Cys) c.2668G>T (p.Gly890Cys) c.2695G>T (p.Gly899Cys) c.2692G>T (p.Gly898Cys) c.2674G>T (p.Gly892Cys) c.2617G>T (p.Gly873Cys) c.2551G>T (p.Gly851Cys) c.1117G>T (p.Gly373Cys) c.469G>T (p.Gly157Cys) c.2530G>T (p.Gly844Cys) c.2665G>T (p.Gly889Cys) c.2671G>T (p.Gly891Cys) c.2587G>T (p.Gly863Cys) c.2515G>T (p.Gly839Cys) c.2449G>T (p.Gly817Cys) c.1810G>T (p.Gly604Cys) c.2428G>T (p.Gly810Cys) | |
9 | g.137800959G>A | CA375788988 | EHMT1 | c.2687G>A (p.Gly896Asp) c.2573G>A (p.Gly858Asp) c.2594G>A (p.Gly865Asp) c.2727G>A (n.2727G>A) c.581G>A (p.Gly194Asp) c.365G>A (p.Gly122Asp) c.1544G>A (p.Gly515Asp) c.257G>A (p.Gly86Asp) c.265G>A n.213G>A c.2678G>A (p.Gly893Asp) c.2669G>A (p.Gly890Asp) c.2696G>A (p.Gly899Asp) c.2693G>A (p.Gly898Asp) c.2675G>A (p.Gly892Asp) c.2618G>A (p.Gly873Asp) c.2552G>A (p.Gly851Asp) c.1118G>A (p.Gly373Asp) c.470G>A (p.Gly157Asp) c.2531G>A (p.Gly844Asp) c.2666G>A (p.Gly889Asp) c.2672G>A (p.Gly891Asp) c.2588G>A (p.Gly863Asp) c.2516G>A (p.Gly839Asp) c.2450G>A (p.Gly817Asp) c.1811G>A (p.Gly604Asp) c.2429G>A (p.Gly810Asp) | ClinVar dbSNP gnomAD v4 |
9 | g.137800959G>C | CA375788990 | EHMT1 | c.2687G>C (p.Gly896Ala) c.2573G>C (p.Gly858Ala) c.2594G>C (p.Gly865Ala) c.2727G>C (n.2727G>C) c.581G>C (p.Gly194Ala) c.365G>C (p.Gly122Ala) c.1544G>C (p.Gly515Ala) c.257G>C (p.Gly86Ala) c.265G>C n.213G>C c.2678G>C (p.Gly893Ala) c.2669G>C (p.Gly890Ala) c.2696G>C (p.Gly899Ala) c.2693G>C (p.Gly898Ala) c.2675G>C (p.Gly892Ala) c.2618G>C (p.Gly873Ala) c.2552G>C (p.Gly851Ala) c.1118G>C (p.Gly373Ala) c.470G>C (p.Gly157Ala) c.2531G>C (p.Gly844Ala) c.2666G>C (p.Gly889Ala) c.2672G>C (p.Gly891Ala) c.2588G>C (p.Gly863Ala) c.2516G>C (p.Gly839Ala) c.2450G>C (p.Gly817Ala) c.1811G>C (p.Gly604Ala) c.2429G>C (p.Gly810Ala) | |
9 | g.137800959G= | CA1884679287 | EHMT1 | c.2687G= (p.Gly896=) c.2573G= (p.Gly858=) c.2594G= (p.Gly865=) c.2727G= (n.2727G=) c.581G= (p.Gly194=) c.365G= (p.Gly122=) c.1544G= (p.Gly515=) c.257G= (p.Gly86=) c.265G= n.213G= c.2678G= (p.Gly893=) c.2669G= (p.Gly890=) c.2696G= (p.Gly899=) c.2693G= (p.Gly898=) c.2675G= (p.Gly892=) c.2618G= (p.Gly873=) c.2552G= (p.Gly851=) c.1118G= (p.Gly373=) c.470G= (p.Gly157=) c.2531G= (p.Gly844=) c.2666G= (p.Gly889=) c.2672G= (p.Gly891=) c.2588G= (p.Gly863=) c.2516G= (p.Gly839=) c.2450G= (p.Gly817=) c.1811G= (p.Gly604=) c.2429G= (p.Gly810=) | |
9 | g.137800959G>T | CA375788991 | EHMT1 | c.2687G>T (p.Gly896Val) c.2573G>T (p.Gly858Val) c.2594G>T (p.Gly865Val) c.2727G>T (n.2727G>T) c.581G>T (p.Gly194Val) c.365G>T (p.Gly122Val) c.1544G>T (p.Gly515Val) c.257G>T (p.Gly86Val) c.265G>T n.213G>T c.2678G>T (p.Gly893Val) c.2669G>T (p.Gly890Val) c.2696G>T (p.Gly899Val) c.2693G>T (p.Gly898Val) c.2675G>T (p.Gly892Val) c.2618G>T (p.Gly873Val) c.2552G>T (p.Gly851Val) c.1118G>T (p.Gly373Val) c.470G>T (p.Gly157Val) c.2531G>T (p.Gly844Val) c.2666G>T (p.Gly889Val) c.2672G>T (p.Gly891Val) c.2588G>T (p.Gly863Val) c.2516G>T (p.Gly839Val) c.2450G>T (p.Gly817Val) c.1811G>T (p.Gly604Val) c.2429G>T (p.Gly810Val) | |
9 | g.137800960C>A | CA467877662 | EHMT1 | c.2688C>A (p.Gly896=) c.2574C>A (p.Gly858=) c.2595C>A (p.Gly865=) c.2728C>A (n.2728C>A) c.582C>A (p.Gly194=) c.366C>A (p.Gly122=) c.1545C>A (p.Gly515=) c.258C>A (p.Gly86=) c.266C>A n.214C>A c.2679C>A (p.Gly893=) c.2670C>A (p.Gly890=) c.2697C>A (p.Gly899=) c.2694C>A (p.Gly898=) c.2676C>A (p.Gly892=) c.2619C>A (p.Gly873=) c.2553C>A (p.Gly851=) c.1119C>A (p.Gly373=) c.471C>A (p.Gly157=) c.2532C>A (p.Gly844=) c.2667C>A (p.Gly889=) c.2673C>A (p.Gly891=) c.2589C>A (p.Gly863=) c.2517C>A (p.Gly839=) c.2451C>A (p.Gly817=) c.1812C>A (p.Gly604=) c.2430C>A (p.Gly810=) | |
9 | g.137800960C= | CA1884679288 | EHMT1 | c.2688C= (p.Gly896=) c.2574C= (p.Gly858=) c.2595C= (p.Gly865=) c.2728C= (n.2728C=) c.582C= (p.Gly194=) c.366C= (p.Gly122=) c.1545C= (p.Gly515=) c.258C= (p.Gly86=) c.266C= n.214C= c.2679C= (p.Gly893=) c.2670C= (p.Gly890=) c.2697C= (p.Gly899=) c.2694C= (p.Gly898=) c.2676C= (p.Gly892=) c.2619C= (p.Gly873=) c.2553C= (p.Gly851=) c.1119C= (p.Gly373=) c.471C= (p.Gly157=) c.2532C= (p.Gly844=) c.2667C= (p.Gly889=) c.2673C= (p.Gly891=) c.2589C= (p.Gly863=) c.2517C= (p.Gly839=) c.2451C= (p.Gly817=) c.1812C= (p.Gly604=) c.2430C= (p.Gly810=) | |
9 | g.137800960C>G | CA467877663 | EHMT1 | c.2688C>G (p.Gly896=) c.2574C>G (p.Gly858=) c.2595C>G (p.Gly865=) c.2728C>G (n.2728C>G) c.582C>G (p.Gly194=) c.366C>G (p.Gly122=) c.1545C>G (p.Gly515=) c.258C>G (p.Gly86=) c.266C>G n.214C>G c.2679C>G (p.Gly893=) c.2670C>G (p.Gly890=) c.2697C>G (p.Gly899=) c.2694C>G (p.Gly898=) c.2676C>G (p.Gly892=) c.2619C>G (p.Gly873=) c.2553C>G (p.Gly851=) c.1119C>G (p.Gly373=) c.471C>G (p.Gly157=) c.2532C>G (p.Gly844=) c.2667C>G (p.Gly889=) c.2673C>G (p.Gly891=) c.2589C>G (p.Gly863=) c.2517C>G (p.Gly839=) c.2451C>G (p.Gly817=) c.1812C>G (p.Gly604=) c.2430C>G (p.Gly810=) | |
9 | g.137800960C>T | CA467877664 | EHMT1 | c.2688C>T (p.Gly896=) c.2574C>T (p.Gly858=) c.2595C>T (p.Gly865=) c.2728C>T (n.2728C>T) c.582C>T (p.Gly194=) c.366C>T (p.Gly122=) c.1545C>T (p.Gly515=) c.258C>T (p.Gly86=) c.266C>T n.214C>T c.2679C>T (p.Gly893=) c.2670C>T (p.Gly890=) c.2697C>T (p.Gly899=) c.2694C>T (p.Gly898=) c.2676C>T (p.Gly892=) c.2619C>T (p.Gly873=) c.2553C>T (p.Gly851=) c.1119C>T (p.Gly373=) c.471C>T (p.Gly157=) c.2532C>T (p.Gly844=) c.2667C>T (p.Gly889=) c.2673C>T (p.Gly891=) c.2589C>T (p.Gly863=) c.2517C>T (p.Gly839=) c.2451C>T (p.Gly817=) c.1812C>T (p.Gly604=) c.2430C>T (p.Gly810=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137800961T>A | CA375788993 | EHMT1 | c.2689T>A (p.Ser897Thr) c.2575T>A (p.Ser859Thr) c.2596T>A (p.Ser866Thr) c.2729T>A (n.2729T>A) c.583T>A (p.Ser195Thr) c.367T>A (p.Ser123Thr) c.1546T>A (p.Ser516Thr) c.259T>A (p.Ser87Thr) c.267T>A n.215T>A c.2680T>A (p.Ser894Thr) c.2671T>A (p.Ser891Thr) c.2698T>A (p.Ser900Thr) c.2695T>A (p.Ser899Thr) c.2677T>A (p.Ser893Thr) c.2620T>A (p.Ser874Thr) c.2554T>A (p.Ser852Thr) c.1120T>A (p.Ser374Thr) c.472T>A (p.Ser158Thr) c.2533T>A (p.Ser845Thr) c.2668T>A (p.Ser890Thr) c.2674T>A (p.Ser892Thr) c.2590T>A (p.Ser864Thr) c.2518T>A (p.Ser840Thr) c.2452T>A (p.Ser818Thr) c.1813T>A (p.Ser605Thr) c.2431T>A (p.Ser811Thr) | |
9 | g.137800961T>C | CA375788994 | EHMT1 | c.2689T>C (p.Ser897Pro) c.2575T>C (p.Ser859Pro) c.2596T>C (p.Ser866Pro) c.2729T>C (n.2729T>C) c.583T>C (p.Ser195Pro) c.367T>C (p.Ser123Pro) c.1546T>C (p.Ser516Pro) c.259T>C (p.Ser87Pro) c.267T>C n.215T>C c.2680T>C (p.Ser894Pro) c.2671T>C (p.Ser891Pro) c.2698T>C (p.Ser900Pro) c.2695T>C (p.Ser899Pro) c.2677T>C (p.Ser893Pro) c.2620T>C (p.Ser874Pro) c.2554T>C (p.Ser852Pro) c.1120T>C (p.Ser374Pro) c.472T>C (p.Ser158Pro) c.2533T>C (p.Ser845Pro) c.2668T>C (p.Ser890Pro) c.2674T>C (p.Ser892Pro) c.2590T>C (p.Ser864Pro) c.2518T>C (p.Ser840Pro) c.2452T>C (p.Ser818Pro) c.1813T>C (p.Ser605Pro) c.2431T>C (p.Ser811Pro) | |
9 | g.137800961T>G | CA375788995 | EHMT1 | c.2689T>G (p.Ser897Ala) c.2575T>G (p.Ser859Ala) c.2596T>G (p.Ser866Ala) c.2729T>G (n.2729T>G) c.583T>G (p.Ser195Ala) c.367T>G (p.Ser123Ala) c.1546T>G (p.Ser516Ala) c.259T>G (p.Ser87Ala) c.267T>G n.215T>G c.2680T>G (p.Ser894Ala) c.2671T>G (p.Ser891Ala) c.2698T>G (p.Ser900Ala) c.2695T>G (p.Ser899Ala) c.2677T>G (p.Ser893Ala) c.2620T>G (p.Ser874Ala) c.2554T>G (p.Ser852Ala) c.1120T>G (p.Ser374Ala) c.472T>G (p.Ser158Ala) c.2533T>G (p.Ser845Ala) c.2668T>G (p.Ser890Ala) c.2674T>G (p.Ser892Ala) c.2590T>G (p.Ser864Ala) c.2518T>G (p.Ser840Ala) c.2452T>G (p.Ser818Ala) c.1813T>G (p.Ser605Ala) c.2431T>G (p.Ser811Ala) | |
9 | g.137800962C>A | CA375788998 | EHMT1 | c.2690C>A (p.Ser897Tyr) c.2576C>A (p.Ser859Tyr) c.2597C>A (p.Ser866Tyr) c.2730C>A (n.2730C>A) c.584C>A (p.Ser195Tyr) c.368C>A (p.Ser123Tyr) c.1547C>A (p.Ser516Tyr) c.260C>A (p.Ser87Tyr) c.268C>A n.216C>A c.2681C>A (p.Ser894Tyr) c.2672C>A (p.Ser891Tyr) c.2699C>A (p.Ser900Tyr) c.2696C>A (p.Ser899Tyr) c.2678C>A (p.Ser893Tyr) c.2621C>A (p.Ser874Tyr) c.2555C>A (p.Ser852Tyr) c.1121C>A (p.Ser374Tyr) c.473C>A (p.Ser158Tyr) c.2534C>A (p.Ser845Tyr) c.2669C>A (p.Ser890Tyr) c.2675C>A (p.Ser892Tyr) c.2591C>A (p.Ser864Tyr) c.2519C>A (p.Ser840Tyr) c.2453C>A (p.Ser818Tyr) c.1814C>A (p.Ser605Tyr) c.2432C>A (p.Ser811Tyr) | |
9 | g.137800962C>G | CA375789000 | EHMT1 | c.2690C>G (p.Ser897Cys) c.2576C>G (p.Ser859Cys) c.2597C>G (p.Ser866Cys) c.2730C>G (n.2730C>G) c.584C>G (p.Ser195Cys) c.368C>G (p.Ser123Cys) c.1547C>G (p.Ser516Cys) c.260C>G (p.Ser87Cys) c.268C>G n.216C>G c.2681C>G (p.Ser894Cys) c.2672C>G (p.Ser891Cys) c.2699C>G (p.Ser900Cys) c.2696C>G (p.Ser899Cys) c.2678C>G (p.Ser893Cys) c.2621C>G (p.Ser874Cys) c.2555C>G (p.Ser852Cys) c.1121C>G (p.Ser374Cys) c.473C>G (p.Ser158Cys) c.2534C>G (p.Ser845Cys) c.2669C>G (p.Ser890Cys) c.2675C>G (p.Ser892Cys) c.2591C>G (p.Ser864Cys) c.2519C>G (p.Ser840Cys) c.2453C>G (p.Ser818Cys) c.1814C>G (p.Ser605Cys) c.2432C>G (p.Ser811Cys) | ClinVar gnomAD v4 |
9 | g.137800962C>T | CA375789001 | EHMT1 | c.2690C>T (p.Ser897Phe) c.2576C>T (p.Ser859Phe) c.2597C>T (p.Ser866Phe) c.2730C>T (n.2730C>T) c.584C>T (p.Ser195Phe) c.368C>T (p.Ser123Phe) c.1547C>T (p.Ser516Phe) c.260C>T (p.Ser87Phe) c.268C>T n.216C>T c.2681C>T (p.Ser894Phe) c.2672C>T (p.Ser891Phe) c.2699C>T (p.Ser900Phe) c.2696C>T (p.Ser899Phe) c.2678C>T (p.Ser893Phe) c.2621C>T (p.Ser874Phe) c.2555C>T (p.Ser852Phe) c.1121C>T (p.Ser374Phe) c.473C>T (p.Ser158Phe) c.2534C>T (p.Ser845Phe) c.2669C>T (p.Ser890Phe) c.2675C>T (p.Ser892Phe) c.2591C>T (p.Ser864Phe) c.2519C>T (p.Ser840Phe) c.2453C>T (p.Ser818Phe) c.1814C>T (p.Ser605Phe) c.2432C>T (p.Ser811Phe) | |
9 | g.137800963T>A | CA467877666 | EHMT1 | c.2691T>A (p.Ser897=) c.2577T>A (p.Ser859=) c.2598T>A (p.Ser866=) c.2731T>A (n.2731T>A) c.585T>A (p.Ser195=) c.369T>A (p.Ser123=) c.1548T>A (p.Ser516=) c.261T>A (p.Ser87=) c.269T>A n.217T>A c.2682T>A (p.Ser894=) c.2673T>A (p.Ser891=) c.2700T>A (p.Ser900=) c.2697T>A (p.Ser899=) c.2679T>A (p.Ser893=) c.2622T>A (p.Ser874=) c.2556T>A (p.Ser852=) c.1122T>A (p.Ser374=) c.474T>A (p.Ser158=) c.2535T>A (p.Ser845=) c.2670T>A (p.Ser890=) c.2676T>A (p.Ser892=) c.2592T>A (p.Ser864=) c.2520T>A (p.Ser840=) c.2454T>A (p.Ser818=) c.1815T>A (p.Ser605=) c.2433T>A (p.Ser811=) | |
9 | g.137800963T>C | CA467877667 | EHMT1 | c.2691T>C (p.Ser897=) c.2577T>C (p.Ser859=) c.2598T>C (p.Ser866=) c.2731T>C (n.2731T>C) c.585T>C (p.Ser195=) c.369T>C (p.Ser123=) c.1548T>C (p.Ser516=) c.261T>C (p.Ser87=) c.269T>C n.217T>C c.2682T>C (p.Ser894=) c.2673T>C (p.Ser891=) c.2700T>C (p.Ser900=) c.2697T>C (p.Ser899=) c.2679T>C (p.Ser893=) c.2622T>C (p.Ser874=) c.2556T>C (p.Ser852=) c.1122T>C (p.Ser374=) c.474T>C (p.Ser158=) c.2535T>C (p.Ser845=) c.2670T>C (p.Ser890=) c.2676T>C (p.Ser892=) c.2592T>C (p.Ser864=) c.2520T>C (p.Ser840=) c.2454T>C (p.Ser818=) c.1815T>C (p.Ser605=) c.2433T>C (p.Ser811=) | |
9 | g.137800963T>G | CA241100 | EHMT1 | c.2691T>G (p.Ser897=) c.2577T>G (p.Ser859=) c.2598T>G (p.Ser866=) c.2731T>G (n.2731T>G) c.585T>G (p.Ser195=) c.369T>G (p.Ser123=) c.1548T>G (p.Ser516=) c.261T>G (p.Ser87=) c.269T>G n.217T>G c.2682T>G (p.Ser894=) c.2673T>G (p.Ser891=) c.2700T>G (p.Ser900=) c.2697T>G (p.Ser899=) c.2679T>G (p.Ser893=) c.2622T>G (p.Ser874=) c.2556T>G (p.Ser852=) c.1122T>G (p.Ser374=) c.474T>G (p.Ser158=) c.2535T>G (p.Ser845=) c.2670T>G (p.Ser890=) c.2676T>G (p.Ser892=) c.2592T>G (p.Ser864=) c.2520T>G (p.Ser840=) c.2454T>G (p.Ser818=) c.1815T>G (p.Ser605=) c.2433T>G (p.Ser811=) | ClinVar dbSNP |
9 | g.137800963T= | CA1884679289 | EHMT1 | c.2691T= (p.Ser897=) c.2577T= (p.Ser859=) c.2598T= (p.Ser866=) c.2731T= (n.2731T=) c.585T= (p.Ser195=) c.369T= (p.Ser123=) c.1548T= (p.Ser516=) c.261T= (p.Ser87=) c.269T= n.217T= c.2682T= (p.Ser894=) c.2673T= (p.Ser891=) c.2700T= (p.Ser900=) c.2697T= (p.Ser899=) c.2679T= (p.Ser893=) c.2622T= (p.Ser874=) c.2556T= (p.Ser852=) c.1122T= (p.Ser374=) c.474T= (p.Ser158=) c.2535T= (p.Ser845=) c.2670T= (p.Ser890=) c.2676T= (p.Ser892=) c.2592T= (p.Ser864=) c.2520T= (p.Ser840=) c.2454T= (p.Ser818=) c.1815T= (p.Ser605=) c.2433T= (p.Ser811=) | |
9 | g.137800964G>A | CA375789004 | EHMT1 | c.2692G>A (p.Asp898Asn) c.2578G>A (p.Asp860Asn) c.2599G>A (p.Asp867Asn) c.2732G>A (n.2732G>A) c.586G>A (p.Asp196Asn) c.370G>A (p.Asp124Asn) c.1549G>A (p.Asp517Asn) c.262G>A (p.Asp88Asn) c.270G>A n.218G>A c.2683G>A (p.Asp895Asn) c.2674G>A (p.Asp892Asn) c.2701G>A (p.Asp901Asn) c.2698G>A (p.Asp900Asn) c.2680G>A (p.Asp894Asn) c.2623G>A (p.Asp875Asn) c.2557G>A (p.Asp853Asn) c.1123G>A (p.Asp375Asn) c.475G>A (p.Asp159Asn) c.2536G>A (p.Asp846Asn) c.2671G>A (p.Asp891Asn) c.2677G>A (p.Asp893Asn) c.2593G>A (p.Asp865Asn) c.2521G>A (p.Asp841Asn) c.2455G>A (p.Asp819Asn) c.1816G>A (p.Asp606Asn) c.2434G>A (p.Asp812Asn) | gnomAD v4 |
9 | g.137800964G>C | CA375789006 | EHMT1 | c.2692G>C (p.Asp898His) c.2578G>C (p.Asp860His) c.2599G>C (p.Asp867His) c.2732G>C (n.2732G>C) c.586G>C (p.Asp196His) c.370G>C (p.Asp124His) c.1549G>C (p.Asp517His) c.262G>C (p.Asp88His) c.270G>C n.218G>C c.2683G>C (p.Asp895His) c.2674G>C (p.Asp892His) c.2701G>C (p.Asp901His) c.2698G>C (p.Asp900His) c.2680G>C (p.Asp894His) c.2623G>C (p.Asp875His) c.2557G>C (p.Asp853His) c.1123G>C (p.Asp375His) c.475G>C (p.Asp159His) c.2536G>C (p.Asp846His) c.2671G>C (p.Asp891His) c.2677G>C (p.Asp893His) c.2593G>C (p.Asp865His) c.2521G>C (p.Asp841His) c.2455G>C (p.Asp819His) c.1816G>C (p.Asp606His) c.2434G>C (p.Asp812His) | |
9 | g.137800964G>T | CA375789007 | EHMT1 | c.2692G>T (p.Asp898Tyr) c.2578G>T (p.Asp860Tyr) c.2599G>T (p.Asp867Tyr) c.2732G>T (n.2732G>T) c.586G>T (p.Asp196Tyr) c.370G>T (p.Asp124Tyr) c.1549G>T (p.Asp517Tyr) c.262G>T (p.Asp88Tyr) c.270G>T n.218G>T c.2683G>T (p.Asp895Tyr) c.2674G>T (p.Asp892Tyr) c.2701G>T (p.Asp901Tyr) c.2698G>T (p.Asp900Tyr) c.2680G>T (p.Asp894Tyr) c.2623G>T (p.Asp875Tyr) c.2557G>T (p.Asp853Tyr) c.1123G>T (p.Asp375Tyr) c.475G>T (p.Asp159Tyr) c.2536G>T (p.Asp846Tyr) c.2671G>T (p.Asp891Tyr) c.2677G>T (p.Asp893Tyr) c.2593G>T (p.Asp865Tyr) c.2521G>T (p.Asp841Tyr) c.2455G>T (p.Asp819Tyr) c.1816G>T (p.Asp606Tyr) c.2434G>T (p.Asp812Tyr) | |
9 | g.137800965A>C | CA375789011 | EHMT1 | c.2693A>C (p.Asp898Ala) c.2579A>C (p.Asp860Ala) c.2600A>C (p.Asp867Ala) c.2733A>C (n.2733A>C) c.587A>C (p.Asp196Ala) c.371A>C (p.Asp124Ala) c.1550A>C (p.Asp517Ala) c.263A>C (p.Asp88Ala) c.271A>C n.219A>C c.2684A>C (p.Asp895Ala) c.2675A>C (p.Asp892Ala) c.2702A>C (p.Asp901Ala) c.2699A>C (p.Asp900Ala) c.2681A>C (p.Asp894Ala) c.2624A>C (p.Asp875Ala) c.2558A>C (p.Asp853Ala) c.1124A>C (p.Asp375Ala) c.476A>C (p.Asp159Ala) c.2537A>C (p.Asp846Ala) c.2672A>C (p.Asp891Ala) c.2678A>C (p.Asp893Ala) c.2594A>C (p.Asp865Ala) c.2522A>C (p.Asp841Ala) c.2456A>C (p.Asp819Ala) c.1817A>C (p.Asp606Ala) c.2435A>C (p.Asp812Ala) | |
9 | g.137800965A>G | CA375789012 | EHMT1 | c.2693A>G (p.Asp898Gly) c.2579A>G (p.Asp860Gly) c.2600A>G (p.Asp867Gly) c.2733A>G (n.2733A>G) c.587A>G (p.Asp196Gly) c.371A>G (p.Asp124Gly) c.1550A>G (p.Asp517Gly) c.263A>G (p.Asp88Gly) c.271A>G n.219A>G c.2684A>G (p.Asp895Gly) c.2675A>G (p.Asp892Gly) c.2702A>G (p.Asp901Gly) c.2699A>G (p.Asp900Gly) c.2681A>G (p.Asp894Gly) c.2624A>G (p.Asp875Gly) c.2558A>G (p.Asp853Gly) c.1124A>G (p.Asp375Gly) c.476A>G (p.Asp159Gly) c.2537A>G (p.Asp846Gly) c.2672A>G (p.Asp891Gly) c.2678A>G (p.Asp893Gly) c.2594A>G (p.Asp865Gly) c.2522A>G (p.Asp841Gly) c.2456A>G (p.Asp819Gly) c.1817A>G (p.Asp606Gly) c.2435A>G (p.Asp812Gly) | |
9 | g.137800965A>T | CA375789009 | EHMT1 | c.2693A>T (p.Asp898Val) c.2579A>T (p.Asp860Val) c.2600A>T (p.Asp867Val) c.2733A>T (n.2733A>T) c.587A>T (p.Asp196Val) c.371A>T (p.Asp124Val) c.1550A>T (p.Asp517Val) c.263A>T (p.Asp88Val) c.271A>T n.219A>T c.2684A>T (p.Asp895Val) c.2675A>T (p.Asp892Val) c.2702A>T (p.Asp901Val) c.2699A>T (p.Asp900Val) c.2681A>T (p.Asp894Val) c.2624A>T (p.Asp875Val) c.2558A>T (p.Asp853Val) c.1124A>T (p.Asp375Val) c.476A>T (p.Asp159Val) c.2537A>T (p.Asp846Val) c.2672A>T (p.Asp891Val) c.2678A>T (p.Asp893Val) c.2594A>T (p.Asp865Val) c.2522A>T (p.Asp841Val) c.2456A>T (p.Asp819Val) c.1817A>T (p.Asp606Val) c.2435A>T (p.Asp812Val) | |
9 | g.137800966C>A | CA375789016 | EHMT1 | c.2694C>A (p.Asp898Glu) c.2580C>A (p.Asp860Glu) c.2601C>A (p.Asp867Glu) c.2734C>A (n.2734C>A) c.588C>A (p.Asp196Glu) c.372C>A (p.Asp124Glu) c.1551C>A (p.Asp517Glu) c.264C>A (p.Asp88Glu) c.272C>A n.220C>A c.2685C>A (p.Asp895Glu) c.2676C>A (p.Asp892Glu) c.2703C>A (p.Asp901Glu) c.2700C>A (p.Asp900Glu) c.2682C>A (p.Asp894Glu) c.2625C>A (p.Asp875Glu) c.2559C>A (p.Asp853Glu) c.1125C>A (p.Asp375Glu) c.477C>A (p.Asp159Glu) c.2538C>A (p.Asp846Glu) c.2673C>A (p.Asp891Glu) c.2679C>A (p.Asp893Glu) c.2595C>A (p.Asp865Glu) c.2523C>A (p.Asp841Glu) c.2457C>A (p.Asp819Glu) c.1818C>A (p.Asp606Glu) c.2436C>A (p.Asp812Glu) | |
9 | g.137800966C>G | CA375789014 | EHMT1 | c.2694C>G (p.Asp898Glu) c.2580C>G (p.Asp860Glu) c.2601C>G (p.Asp867Glu) c.2734C>G (n.2734C>G) c.588C>G (p.Asp196Glu) c.372C>G (p.Asp124Glu) c.1551C>G (p.Asp517Glu) c.264C>G (p.Asp88Glu) c.272C>G n.220C>G c.2685C>G (p.Asp895Glu) c.2676C>G (p.Asp892Glu) c.2703C>G (p.Asp901Glu) c.2700C>G (p.Asp900Glu) c.2682C>G (p.Asp894Glu) c.2625C>G (p.Asp875Glu) c.2559C>G (p.Asp853Glu) c.1125C>G (p.Asp375Glu) c.477C>G (p.Asp159Glu) c.2538C>G (p.Asp846Glu) c.2673C>G (p.Asp891Glu) c.2679C>G (p.Asp893Glu) c.2595C>G (p.Asp865Glu) c.2523C>G (p.Asp841Glu) c.2457C>G (p.Asp819Glu) c.1818C>G (p.Asp606Glu) c.2436C>G (p.Asp812Glu) | |
9 | g.137800966C>T | CA467877668 | EHMT1 | c.2694C>T (p.Asp898=) c.2580C>T (p.Asp860=) c.2601C>T (p.Asp867=) c.2734C>T (n.2734C>T) c.588C>T (p.Asp196=) c.372C>T (p.Asp124=) c.1551C>T (p.Asp517=) c.264C>T (p.Asp88=) c.272C>T n.220C>T c.2685C>T (p.Asp895=) c.2676C>T (p.Asp892=) c.2703C>T (p.Asp901=) c.2700C>T (p.Asp900=) c.2682C>T (p.Asp894=) c.2625C>T (p.Asp875=) c.2559C>T (p.Asp853=) c.1125C>T (p.Asp375=) c.477C>T (p.Asp159=) c.2538C>T (p.Asp846=) c.2673C>T (p.Asp891=) c.2679C>T (p.Asp893=) c.2595C>T (p.Asp865=) c.2523C>T (p.Asp841=) c.2457C>T (p.Asp819=) c.1818C>T (p.Asp606=) c.2436C>T (p.Asp812=) | |
9 | g.137800967A= | CA1884679290 | EHMT1 | c.2695A= (p.Ile899=) c.2581A= (p.Ile861=) c.2602A= (p.Ile868=) c.2735A= (n.2735A=) c.589A= (p.Ile197=) c.373A= (p.Ile125=) c.1552A= (p.Ile518=) c.265A= (p.Ile89=) c.273A= n.221A= c.2686A= (p.Ile896=) c.2677A= (p.Ile893=) c.2704A= (p.Ile902=) c.2701A= (p.Ile901=) c.2683A= (p.Ile895=) c.2626A= (p.Ile876=) c.2560A= (p.Ile854=) c.1126A= (p.Ile376=) c.478A= (p.Ile160=) c.2539A= (p.Ile847=) c.2674A= (p.Ile892=) c.2680A= (p.Ile894=) c.2596A= (p.Ile866=) c.2524A= (p.Ile842=) c.2458A= (p.Ile820=) c.1819A= (p.Ile607=) c.2437A= (p.Ile813=) | |
9 | g.137800967A>C | CA375789020 | EHMT1 | c.2695A>C (p.Ile899Leu) c.2581A>C (p.Ile861Leu) c.2602A>C (p.Ile868Leu) c.2735A>C (n.2735A>C) c.589A>C (p.Ile197Leu) c.373A>C (p.Ile125Leu) c.1552A>C (p.Ile518Leu) c.265A>C (p.Ile89Leu) c.273A>C n.221A>C c.2686A>C (p.Ile896Leu) c.2677A>C (p.Ile893Leu) c.2704A>C (p.Ile902Leu) c.2701A>C (p.Ile901Leu) c.2683A>C (p.Ile895Leu) c.2626A>C (p.Ile876Leu) c.2560A>C (p.Ile854Leu) c.1126A>C (p.Ile376Leu) c.478A>C (p.Ile160Leu) c.2539A>C (p.Ile847Leu) c.2674A>C (p.Ile892Leu) c.2680A>C (p.Ile894Leu) c.2596A>C (p.Ile866Leu) c.2524A>C (p.Ile842Leu) c.2458A>C (p.Ile820Leu) c.1819A>C (p.Ile607Leu) c.2437A>C (p.Ile813Leu) | |
9 | g.137800967A>G | CA241102 | EHMT1 | c.2695A>G (p.Ile899Val) c.2581A>G (p.Ile861Val) c.2602A>G (p.Ile868Val) c.2735A>G (n.2735A>G) c.589A>G (p.Ile197Val) c.373A>G (p.Ile125Val) c.1552A>G (p.Ile518Val) c.265A>G (p.Ile89Val) c.273A>G n.221A>G c.2686A>G (p.Ile896Val) c.2677A>G (p.Ile893Val) c.2704A>G (p.Ile902Val) c.2701A>G (p.Ile901Val) c.2683A>G (p.Ile895Val) c.2626A>G (p.Ile876Val) c.2560A>G (p.Ile854Val) c.1126A>G (p.Ile376Val) c.478A>G (p.Ile160Val) c.2539A>G (p.Ile847Val) c.2674A>G (p.Ile892Val) c.2680A>G (p.Ile894Val) c.2596A>G (p.Ile866Val) c.2524A>G (p.Ile842Val) c.2458A>G (p.Ile820Val) c.1819A>G (p.Ile607Val) c.2437A>G (p.Ile813Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800967A>T | CA375789018 | EHMT1 | c.2695A>T (p.Ile899Phe) c.2581A>T (p.Ile861Phe) c.2602A>T (p.Ile868Phe) c.2735A>T (n.2735A>T) c.589A>T (p.Ile197Phe) c.373A>T (p.Ile125Phe) c.1552A>T (p.Ile518Phe) c.265A>T (p.Ile89Phe) c.273A>T n.221A>T c.2686A>T (p.Ile896Phe) c.2677A>T (p.Ile893Phe) c.2704A>T (p.Ile902Phe) c.2701A>T (p.Ile901Phe) c.2683A>T (p.Ile895Phe) c.2626A>T (p.Ile876Phe) c.2560A>T (p.Ile854Phe) c.1126A>T (p.Ile376Phe) c.478A>T (p.Ile160Phe) c.2539A>T (p.Ile847Phe) c.2674A>T (p.Ile892Phe) c.2680A>T (p.Ile894Phe) c.2596A>T (p.Ile866Phe) c.2524A>T (p.Ile842Phe) c.2458A>T (p.Ile820Phe) c.1819A>T (p.Ile607Phe) c.2437A>T (p.Ile813Phe) | |
9 | g.137800968T>A | CA375789021 | EHMT1 | c.2696T>A (p.Ile899Asn) c.2582T>A (p.Ile861Asn) c.2603T>A (p.Ile868Asn) c.2736T>A (n.2736T>A) c.590T>A (p.Ile197Asn) c.374T>A (p.Ile125Asn) c.1553T>A (p.Ile518Asn) c.266T>A (p.Ile89Asn) c.274T>A n.222T>A c.2687T>A (p.Ile896Asn) c.2678T>A (p.Ile893Asn) c.2705T>A (p.Ile902Asn) c.2702T>A (p.Ile901Asn) c.2684T>A (p.Ile895Asn) c.2627T>A (p.Ile876Asn) c.2561T>A (p.Ile854Asn) c.1127T>A (p.Ile376Asn) c.479T>A (p.Ile160Asn) c.2540T>A (p.Ile847Asn) c.2675T>A (p.Ile892Asn) c.2681T>A (p.Ile894Asn) c.2597T>A (p.Ile866Asn) c.2525T>A (p.Ile842Asn) c.2459T>A (p.Ile820Asn) c.1820T>A (p.Ile607Asn) c.2438T>A (p.Ile813Asn) | |
9 | g.137800968T>C | CA375789023 | EHMT1 | c.2696T>C (p.Ile899Thr) c.2582T>C (p.Ile861Thr) c.2603T>C (p.Ile868Thr) c.2736T>C (n.2736T>C) c.590T>C (p.Ile197Thr) c.374T>C (p.Ile125Thr) c.1553T>C (p.Ile518Thr) c.266T>C (p.Ile89Thr) c.274T>C n.222T>C c.2687T>C (p.Ile896Thr) c.2678T>C (p.Ile893Thr) c.2705T>C (p.Ile902Thr) c.2702T>C (p.Ile901Thr) c.2684T>C (p.Ile895Thr) c.2627T>C (p.Ile876Thr) c.2561T>C (p.Ile854Thr) c.1127T>C (p.Ile376Thr) c.479T>C (p.Ile160Thr) c.2540T>C (p.Ile847Thr) c.2675T>C (p.Ile892Thr) c.2681T>C (p.Ile894Thr) c.2597T>C (p.Ile866Thr) c.2525T>C (p.Ile842Thr) c.2459T>C (p.Ile820Thr) c.1820T>C (p.Ile607Thr) c.2438T>C (p.Ile813Thr) | |
9 | g.137800968T>G | CA375789024 | EHMT1 | c.2696T>G (p.Ile899Ser) c.2582T>G (p.Ile861Ser) c.2603T>G (p.Ile868Ser) c.2736T>G (n.2736T>G) c.590T>G (p.Ile197Ser) c.374T>G (p.Ile125Ser) c.1553T>G (p.Ile518Ser) c.266T>G (p.Ile89Ser) c.274T>G n.222T>G c.2687T>G (p.Ile896Ser) c.2678T>G (p.Ile893Ser) c.2705T>G (p.Ile902Ser) c.2702T>G (p.Ile901Ser) c.2684T>G (p.Ile895Ser) c.2627T>G (p.Ile876Ser) c.2561T>G (p.Ile854Ser) c.1127T>G (p.Ile376Ser) c.479T>G (p.Ile160Ser) c.2540T>G (p.Ile847Ser) c.2675T>G (p.Ile892Ser) c.2681T>G (p.Ile894Ser) c.2597T>G (p.Ile866Ser) c.2525T>G (p.Ile842Ser) c.2459T>G (p.Ile820Ser) c.1820T>G (p.Ile607Ser) c.2438T>G (p.Ile813Ser) | |
9 | g.137800969C>A | CA467877672 | EHMT1 | c.2697C>A (p.Ile899=) c.2583C>A (p.Ile861=) c.2604C>A (p.Ile868=) c.2737C>A (n.2737C>A) c.591C>A (p.Ile197=) c.375C>A (p.Ile125=) c.1554C>A (p.Ile518=) c.267C>A (p.Ile89=) c.275C>A n.223C>A c.2688C>A (p.Ile896=) c.2679C>A (p.Ile893=) c.2706C>A (p.Ile902=) c.2703C>A (p.Ile901=) c.2685C>A (p.Ile895=) c.2628C>A (p.Ile876=) c.2562C>A (p.Ile854=) c.1128C>A (p.Ile376=) c.480C>A (p.Ile160=) c.2541C>A (p.Ile847=) c.2676C>A (p.Ile892=) c.2682C>A (p.Ile894=) c.2598C>A (p.Ile866=) c.2526C>A (p.Ile842=) c.2460C>A (p.Ile820=) c.1821C>A (p.Ile607=) c.2439C>A (p.Ile813=) | gnomAD v4 |
9 | g.137800969C>G | CA375789026 | EHMT1 | c.2697C>G (p.Ile899Met) c.2583C>G (p.Ile861Met) c.2604C>G (p.Ile868Met) c.2737C>G (n.2737C>G) c.591C>G (p.Ile197Met) c.375C>G (p.Ile125Met) c.1554C>G (p.Ile518Met) c.267C>G (p.Ile89Met) c.275C>G n.223C>G c.2688C>G (p.Ile896Met) c.2679C>G (p.Ile893Met) c.2706C>G (p.Ile902Met) c.2703C>G (p.Ile901Met) c.2685C>G (p.Ile895Met) c.2628C>G (p.Ile876Met) c.2562C>G (p.Ile854Met) c.1128C>G (p.Ile376Met) c.480C>G (p.Ile160Met) c.2541C>G (p.Ile847Met) c.2676C>G (p.Ile892Met) c.2682C>G (p.Ile894Met) c.2598C>G (p.Ile866Met) c.2526C>G (p.Ile842Met) c.2460C>G (p.Ile820Met) c.1821C>G (p.Ile607Met) c.2439C>G (p.Ile813Met) | |
9 | g.137800969C>T | CA467877673 | EHMT1 | c.2697C>T (p.Ile899=) c.2583C>T (p.Ile861=) c.2604C>T (p.Ile868=) c.2737C>T (n.2737C>T) c.591C>T (p.Ile197=) c.375C>T (p.Ile125=) c.1554C>T (p.Ile518=) c.267C>T (p.Ile89=) c.275C>T n.223C>T c.2688C>T (p.Ile896=) c.2679C>T (p.Ile893=) c.2706C>T (p.Ile902=) c.2703C>T (p.Ile901=) c.2685C>T (p.Ile895=) c.2628C>T (p.Ile876=) c.2562C>T (p.Ile854=) c.1128C>T (p.Ile376=) c.480C>T (p.Ile160=) c.2541C>T (p.Ile847=) c.2676C>T (p.Ile892=) c.2682C>T (p.Ile894=) c.2598C>T (p.Ile866=) c.2526C>T (p.Ile842=) c.2460C>T (p.Ile820=) c.1821C>T (p.Ile607=) c.2439C>T (p.Ile813=) | |
9 | g.137800970A>C | CA375789028 | EHMT1 | c.2698A>C (p.Asn900His) c.2584A>C (p.Asn862His) c.2605A>C (p.Asn869His) c.2738A>C (n.2738A>C) c.592A>C (p.Asn198His) c.376A>C (p.Asn126His) c.1555A>C (p.Asn519His) c.268A>C (p.Asn90His) c.276A>C n.224A>C c.2689A>C (p.Asn897His) c.2680A>C (p.Asn894His) c.2707A>C (p.Asn903His) c.2704A>C (p.Asn902His) c.2686A>C (p.Asn896His) c.2629A>C (p.Asn877His) c.2563A>C (p.Asn855His) c.1129A>C (p.Asn377His) c.481A>C (p.Asn161His) c.2542A>C (p.Asn848His) c.2677A>C (p.Asn893His) c.2683A>C (p.Asn895His) c.2599A>C (p.Asn867His) c.2527A>C (p.Asn843His) c.2461A>C (p.Asn821His) c.1822A>C (p.Asn608His) c.2440A>C (p.Asn814His) | |
9 | g.137800970A>G | CA375789030 | EHMT1 | c.2698A>G (p.Asn900Asp) c.2584A>G (p.Asn862Asp) c.2605A>G (p.Asn869Asp) c.2738A>G (n.2738A>G) c.592A>G (p.Asn198Asp) c.376A>G (p.Asn126Asp) c.1555A>G (p.Asn519Asp) c.268A>G (p.Asn90Asp) c.276A>G n.224A>G c.2689A>G (p.Asn897Asp) c.2680A>G (p.Asn894Asp) c.2707A>G (p.Asn903Asp) c.2704A>G (p.Asn902Asp) c.2686A>G (p.Asn896Asp) c.2629A>G (p.Asn877Asp) c.2563A>G (p.Asn855Asp) c.1129A>G (p.Asn377Asp) c.481A>G (p.Asn161Asp) c.2542A>G (p.Asn848Asp) c.2677A>G (p.Asn893Asp) c.2683A>G (p.Asn895Asp) c.2599A>G (p.Asn867Asp) c.2527A>G (p.Asn843Asp) c.2461A>G (p.Asn821Asp) c.1822A>G (p.Asn608Asp) c.2440A>G (p.Asn814Asp) | |
9 | g.137800970A>T | CA375789031 | EHMT1 | c.2698A>T (p.Asn900Tyr) c.2584A>T (p.Asn862Tyr) c.2605A>T (p.Asn869Tyr) c.2738A>T (n.2738A>T) c.592A>T (p.Asn198Tyr) c.376A>T (p.Asn126Tyr) c.1555A>T (p.Asn519Tyr) c.268A>T (p.Asn90Tyr) c.276A>T n.224A>T c.2689A>T (p.Asn897Tyr) c.2680A>T (p.Asn894Tyr) c.2707A>T (p.Asn903Tyr) c.2704A>T (p.Asn902Tyr) c.2686A>T (p.Asn896Tyr) c.2629A>T (p.Asn877Tyr) c.2563A>T (p.Asn855Tyr) c.1129A>T (p.Asn377Tyr) c.481A>T (p.Asn161Tyr) c.2542A>T (p.Asn848Tyr) c.2677A>T (p.Asn893Tyr) c.2683A>T (p.Asn895Tyr) c.2599A>T (p.Asn867Tyr) c.2527A>T (p.Asn843Tyr) c.2461A>T (p.Asn821Tyr) c.1822A>T (p.Asn608Tyr) c.2440A>T (p.Asn814Tyr) | |
9 | g.137800971A>C | CA375789033 | EHMT1 | c.2699A>C (p.Asn900Thr) c.2585A>C (p.Asn862Thr) c.2606A>C (p.Asn869Thr) c.2739A>C (n.2739A>C) c.593A>C (p.Asn198Thr) c.377A>C (p.Asn126Thr) c.1556A>C (p.Asn519Thr) c.269A>C (p.Asn90Thr) c.277A>C n.225A>C c.2690A>C (p.Asn897Thr) c.2681A>C (p.Asn894Thr) c.2708A>C (p.Asn903Thr) c.2705A>C (p.Asn902Thr) c.2687A>C (p.Asn896Thr) c.2630A>C (p.Asn877Thr) c.2564A>C (p.Asn855Thr) c.1130A>C (p.Asn377Thr) c.482A>C (p.Asn161Thr) c.2543A>C (p.Asn848Thr) c.2678A>C (p.Asn893Thr) c.2684A>C (p.Asn895Thr) c.2600A>C (p.Asn867Thr) c.2528A>C (p.Asn843Thr) c.2462A>C (p.Asn821Thr) c.1823A>C (p.Asn608Thr) c.2441A>C (p.Asn814Thr) | |
9 | g.137800971A>G | CA375789034 | EHMT1 | c.2699A>G (p.Asn900Ser) c.2585A>G (p.Asn862Ser) c.2606A>G (p.Asn869Ser) c.2739A>G (n.2739A>G) c.593A>G (p.Asn198Ser) c.377A>G (p.Asn126Ser) c.1556A>G (p.Asn519Ser) c.269A>G (p.Asn90Ser) c.277A>G n.225A>G c.2690A>G (p.Asn897Ser) c.2681A>G (p.Asn894Ser) c.2708A>G (p.Asn903Ser) c.2705A>G (p.Asn902Ser) c.2687A>G (p.Asn896Ser) c.2630A>G (p.Asn877Ser) c.2564A>G (p.Asn855Ser) c.1130A>G (p.Asn377Ser) c.482A>G (p.Asn161Ser) c.2543A>G (p.Asn848Ser) c.2678A>G (p.Asn893Ser) c.2684A>G (p.Asn895Ser) c.2600A>G (p.Asn867Ser) c.2528A>G (p.Asn843Ser) c.2462A>G (p.Asn821Ser) c.1823A>G (p.Asn608Ser) c.2441A>G (p.Asn814Ser) | gnomAD v4 |
9 | g.137800971A>T | CA375789036 | EHMT1 | c.2699A>T (p.Asn900Ile) c.2585A>T (p.Asn862Ile) c.2606A>T (p.Asn869Ile) c.2739A>T (n.2739A>T) c.593A>T (p.Asn198Ile) c.377A>T (p.Asn126Ile) c.1556A>T (p.Asn519Ile) c.269A>T (p.Asn90Ile) c.277A>T n.225A>T c.2690A>T (p.Asn897Ile) c.2681A>T (p.Asn894Ile) c.2708A>T (p.Asn903Ile) c.2705A>T (p.Asn902Ile) c.2687A>T (p.Asn896Ile) c.2630A>T (p.Asn877Ile) c.2564A>T (p.Asn855Ile) c.1130A>T (p.Asn377Ile) c.482A>T (p.Asn161Ile) c.2543A>T (p.Asn848Ile) c.2678A>T (p.Asn893Ile) c.2684A>T (p.Asn895Ile) c.2600A>T (p.Asn867Ile) c.2528A>T (p.Asn843Ile) c.2462A>T (p.Asn821Ile) c.1823A>T (p.Asn608Ile) c.2441A>T (p.Asn814Ile) | |
9 | g.137800972C>A | CA375789039 | EHMT1 | c.2700C>A (p.Asn900Lys) c.2586C>A (p.Asn862Lys) c.2607C>A (p.Asn869Lys) c.2740C>A (n.2740C>A) c.594C>A (p.Asn198Lys) c.378C>A (p.Asn126Lys) c.1557C>A (p.Asn519Lys) c.270C>A (p.Asn90Lys) c.278C>A n.226C>A c.2691C>A (p.Asn897Lys) c.2682C>A (p.Asn894Lys) c.2709C>A (p.Asn903Lys) c.2706C>A (p.Asn902Lys) c.2688C>A (p.Asn896Lys) c.2631C>A (p.Asn877Lys) c.2565C>A (p.Asn855Lys) c.1131C>A (p.Asn377Lys) c.483C>A (p.Asn161Lys) c.2544C>A (p.Asn848Lys) c.2679C>A (p.Asn893Lys) c.2685C>A (p.Asn895Lys) c.2601C>A (p.Asn867Lys) c.2529C>A (p.Asn843Lys) c.2463C>A (p.Asn821Lys) c.1824C>A (p.Asn608Lys) c.2442C>A (p.Asn814Lys) | |
9 | g.137800972C>G | CA375789038 | EHMT1 | c.2700C>G (p.Asn900Lys) c.2586C>G (p.Asn862Lys) c.2607C>G (p.Asn869Lys) c.2740C>G (n.2740C>G) c.594C>G (p.Asn198Lys) c.378C>G (p.Asn126Lys) c.1557C>G (p.Asn519Lys) c.270C>G (p.Asn90Lys) c.278C>G n.226C>G c.2691C>G (p.Asn897Lys) c.2682C>G (p.Asn894Lys) c.2709C>G (p.Asn903Lys) c.2706C>G (p.Asn902Lys) c.2688C>G (p.Asn896Lys) c.2631C>G (p.Asn877Lys) c.2565C>G (p.Asn855Lys) c.1131C>G (p.Asn377Lys) c.483C>G (p.Asn161Lys) c.2544C>G (p.Asn848Lys) c.2679C>G (p.Asn893Lys) c.2685C>G (p.Asn895Lys) c.2601C>G (p.Asn867Lys) c.2529C>G (p.Asn843Lys) c.2463C>G (p.Asn821Lys) c.1824C>G (p.Asn608Lys) c.2442C>G (p.Asn814Lys) | |
9 | g.137800972C>T | CA467877674 | EHMT1 | c.2700C>T (p.Asn900=) c.2586C>T (p.Asn862=) c.2607C>T (p.Asn869=) c.2740C>T (n.2740C>T) c.594C>T (p.Asn198=) c.378C>T (p.Asn126=) c.1557C>T (p.Asn519=) c.270C>T (p.Asn90=) c.278C>T n.226C>T c.2691C>T (p.Asn897=) c.2682C>T (p.Asn894=) c.2709C>T (p.Asn903=) c.2706C>T (p.Asn902=) c.2688C>T (p.Asn896=) c.2631C>T (p.Asn877=) c.2565C>T (p.Asn855=) c.1131C>T (p.Asn377=) c.483C>T (p.Asn161=) c.2544C>T (p.Asn848=) c.2679C>T (p.Asn893=) c.2685C>T (p.Asn895=) c.2601C>T (p.Asn867=) c.2529C>T (p.Asn843=) c.2463C>T (p.Asn821=) c.1824C>T (p.Asn608=) c.2442C>T (p.Asn814=) | |
9 | g.137800973A>C | CA375789041 | EHMT1 | c.2701A>C (p.Ile901Leu) c.2587A>C (p.Ile863Leu) c.2608A>C (p.Ile870Leu) c.2741A>C (n.2741A>C) c.595A>C (p.Ile199Leu) c.379A>C (p.Ile127Leu) c.1558A>C (p.Ile520Leu) c.271A>C (p.Ile91Leu) c.279A>C n.227A>C c.2692A>C (p.Ile898Leu) c.2683A>C (p.Ile895Leu) c.2710A>C (p.Ile904Leu) c.2707A>C (p.Ile903Leu) c.2689A>C (p.Ile897Leu) c.2632A>C (p.Ile878Leu) c.2566A>C (p.Ile856Leu) c.1132A>C (p.Ile378Leu) c.484A>C (p.Ile162Leu) c.2545A>C (p.Ile849Leu) c.2680A>C (p.Ile894Leu) c.2686A>C (p.Ile896Leu) c.2602A>C (p.Ile868Leu) c.2530A>C (p.Ile844Leu) c.2464A>C (p.Ile822Leu) c.1825A>C (p.Ile609Leu) c.2443A>C (p.Ile815Leu) | |
9 | g.137800973A>G | CA375789043 | EHMT1 | c.2701A>G (p.Ile901Val) c.2587A>G (p.Ile863Val) c.2608A>G (p.Ile870Val) c.2741A>G (n.2741A>G) c.595A>G (p.Ile199Val) c.379A>G (p.Ile127Val) c.1558A>G (p.Ile520Val) c.271A>G (p.Ile91Val) c.279A>G n.227A>G c.2692A>G (p.Ile898Val) c.2683A>G (p.Ile895Val) c.2710A>G (p.Ile904Val) c.2707A>G (p.Ile903Val) c.2689A>G (p.Ile897Val) c.2632A>G (p.Ile878Val) c.2566A>G (p.Ile856Val) c.1132A>G (p.Ile378Val) c.484A>G (p.Ile162Val) c.2545A>G (p.Ile849Val) c.2680A>G (p.Ile894Val) c.2686A>G (p.Ile896Val) c.2602A>G (p.Ile868Val) c.2530A>G (p.Ile844Val) c.2464A>G (p.Ile822Val) c.1825A>G (p.Ile609Val) c.2443A>G (p.Ile815Val) | |
9 | g.137800973A>T | CA375789044 | EHMT1 | c.2701A>T (p.Ile901Phe) c.2587A>T (p.Ile863Phe) c.2608A>T (p.Ile870Phe) c.2741A>T (n.2741A>T) c.595A>T (p.Ile199Phe) c.379A>T (p.Ile127Phe) c.1558A>T (p.Ile520Phe) c.271A>T (p.Ile91Phe) c.279A>T n.227A>T c.2692A>T (p.Ile898Phe) c.2683A>T (p.Ile895Phe) c.2710A>T (p.Ile904Phe) c.2707A>T (p.Ile903Phe) c.2689A>T (p.Ile897Phe) c.2632A>T (p.Ile878Phe) c.2566A>T (p.Ile856Phe) c.1132A>T (p.Ile378Phe) c.484A>T (p.Ile162Phe) c.2545A>T (p.Ile849Phe) c.2680A>T (p.Ile894Phe) c.2686A>T (p.Ile896Phe) c.2602A>T (p.Ile868Phe) c.2530A>T (p.Ile844Phe) c.2464A>T (p.Ile822Phe) c.1825A>T (p.Ile609Phe) c.2443A>T (p.Ile815Phe) | |
9 | g.137800974T>A | CA375789046 | EHMT1 | c.2702T>A (p.Ile901Asn) c.2588T>A (p.Ile863Asn) c.2609T>A (p.Ile870Asn) c.2742T>A (n.2742T>A) c.596T>A (p.Ile199Asn) c.380T>A (p.Ile127Asn) c.1559T>A (p.Ile520Asn) c.272T>A (p.Ile91Asn) c.280T>A n.228T>A c.2693T>A (p.Ile898Asn) c.2684T>A (p.Ile895Asn) c.2711T>A (p.Ile904Asn) c.2708T>A (p.Ile903Asn) c.2690T>A (p.Ile897Asn) c.2633T>A (p.Ile878Asn) c.2567T>A (p.Ile856Asn) c.1133T>A (p.Ile378Asn) c.485T>A (p.Ile162Asn) c.2546T>A (p.Ile849Asn) c.2681T>A (p.Ile894Asn) c.2687T>A (p.Ile896Asn) c.2603T>A (p.Ile868Asn) c.2531T>A (p.Ile844Asn) c.2465T>A (p.Ile822Asn) c.1826T>A (p.Ile609Asn) c.2444T>A (p.Ile815Asn) | |
9 | g.137800974T>C | CA375789048 | EHMT1 | c.2702T>C (p.Ile901Thr) c.2588T>C (p.Ile863Thr) c.2609T>C (p.Ile870Thr) c.2742T>C (n.2742T>C) c.596T>C (p.Ile199Thr) c.380T>C (p.Ile127Thr) c.1559T>C (p.Ile520Thr) c.272T>C (p.Ile91Thr) c.280T>C n.228T>C c.2693T>C (p.Ile898Thr) c.2684T>C (p.Ile895Thr) c.2711T>C (p.Ile904Thr) c.2708T>C (p.Ile903Thr) c.2690T>C (p.Ile897Thr) c.2633T>C (p.Ile878Thr) c.2567T>C (p.Ile856Thr) c.1133T>C (p.Ile378Thr) c.485T>C (p.Ile162Thr) c.2546T>C (p.Ile849Thr) c.2681T>C (p.Ile894Thr) c.2687T>C (p.Ile896Thr) c.2603T>C (p.Ile868Thr) c.2531T>C (p.Ile844Thr) c.2465T>C (p.Ile822Thr) c.1826T>C (p.Ile609Thr) c.2444T>C (p.Ile815Thr) | |
9 | g.137800974T>G | CA375789050 | EHMT1 | c.2702T>G (p.Ile901Ser) c.2588T>G (p.Ile863Ser) c.2609T>G (p.Ile870Ser) c.2742T>G (n.2742T>G) c.596T>G (p.Ile199Ser) c.380T>G (p.Ile127Ser) c.1559T>G (p.Ile520Ser) c.272T>G (p.Ile91Ser) c.280T>G n.228T>G c.2693T>G (p.Ile898Ser) c.2684T>G (p.Ile895Ser) c.2711T>G (p.Ile904Ser) c.2708T>G (p.Ile903Ser) c.2690T>G (p.Ile897Ser) c.2633T>G (p.Ile878Ser) c.2567T>G (p.Ile856Ser) c.1133T>G (p.Ile378Ser) c.485T>G (p.Ile162Ser) c.2546T>G (p.Ile849Ser) c.2681T>G (p.Ile894Ser) c.2687T>G (p.Ile896Ser) c.2603T>G (p.Ile868Ser) c.2531T>G (p.Ile844Ser) c.2465T>G (p.Ile822Ser) c.1826T>G (p.Ile609Ser) c.2444T>G (p.Ile815Ser) | |
9 | g.137800975C>A | CA467877676 | EHMT1 | c.2703C>A (p.Ile901=) c.2589C>A (p.Ile863=) c.2610C>A (p.Ile870=) c.2743C>A (n.2743C>A) c.597C>A (p.Ile199=) c.381C>A (p.Ile127=) c.1560C>A (p.Ile520=) c.273C>A (p.Ile91=) c.281C>A n.229C>A c.2694C>A (p.Ile898=) c.2685C>A (p.Ile895=) c.2712C>A (p.Ile904=) c.2709C>A (p.Ile903=) c.2691C>A (p.Ile897=) c.2634C>A (p.Ile878=) c.2568C>A (p.Ile856=) c.1134C>A (p.Ile378=) c.486C>A (p.Ile162=) c.2547C>A (p.Ile849=) c.2682C>A (p.Ile894=) c.2688C>A (p.Ile896=) c.2604C>A (p.Ile868=) c.2532C>A (p.Ile844=) c.2466C>A (p.Ile822=) c.1827C>A (p.Ile609=) c.2445C>A (p.Ile815=) | |
9 | g.137800975C>G | CA375789051 | EHMT1 | c.2703C>G (p.Ile901Met) c.2589C>G (p.Ile863Met) c.2610C>G (p.Ile870Met) c.2743C>G (n.2743C>G) c.597C>G (p.Ile199Met) c.381C>G (p.Ile127Met) c.1560C>G (p.Ile520Met) c.273C>G (p.Ile91Met) c.281C>G n.229C>G c.2694C>G (p.Ile898Met) c.2685C>G (p.Ile895Met) c.2712C>G (p.Ile904Met) c.2709C>G (p.Ile903Met) c.2691C>G (p.Ile897Met) c.2634C>G (p.Ile878Met) c.2568C>G (p.Ile856Met) c.1134C>G (p.Ile378Met) c.486C>G (p.Ile162Met) c.2547C>G (p.Ile849Met) c.2682C>G (p.Ile894Met) c.2688C>G (p.Ile896Met) c.2604C>G (p.Ile868Met) c.2532C>G (p.Ile844Met) c.2466C>G (p.Ile822Met) c.1827C>G (p.Ile609Met) c.2445C>G (p.Ile815Met) | gnomAD v4 |
9 | g.137800975C>T | CA467877675 | EHMT1 | c.2703C>T (p.Ile901=) c.2589C>T (p.Ile863=) c.2610C>T (p.Ile870=) c.2743C>T (n.2743C>T) c.597C>T (p.Ile199=) c.381C>T (p.Ile127=) c.1560C>T (p.Ile520=) c.273C>T (p.Ile91=) c.281C>T n.229C>T c.2694C>T (p.Ile898=) c.2685C>T (p.Ile895=) c.2712C>T (p.Ile904=) c.2709C>T (p.Ile903=) c.2691C>T (p.Ile897=) c.2634C>T (p.Ile878=) c.2568C>T (p.Ile856=) c.1134C>T (p.Ile378=) c.486C>T (p.Ile162=) c.2547C>T (p.Ile849=) c.2682C>T (p.Ile894=) c.2688C>T (p.Ile896=) c.2604C>T (p.Ile868=) c.2532C>T (p.Ile844=) c.2466C>T (p.Ile822=) c.1827C>T (p.Ile609=) c.2445C>T (p.Ile815=) | ClinVar dbSNP gnomAD v4 |
9 | g.137800976C>A | CA467877677 | EHMT1 | c.2704C>A (p.Arg902=) c.2590C>A (p.Arg864=) c.2611C>A (p.Arg871=) c.2744C>A (n.2744C>A) c.598C>A (p.Arg200=) c.382C>A (p.Arg128=) c.1561C>A (p.Arg521=) c.274C>A (p.Arg92=) c.282C>A n.230C>A c.2695C>A (p.Arg899=) c.2686C>A (p.Arg896=) c.2713C>A (p.Arg905=) c.2710C>A (p.Arg904=) c.2692C>A (p.Arg898=) c.2635C>A (p.Arg879=) c.2569C>A (p.Arg857=) c.1135C>A (p.Arg379=) c.487C>A (p.Arg163=) c.2548C>A (p.Arg850=) c.2683C>A (p.Arg895=) c.2689C>A (p.Arg897=) c.2605C>A (p.Arg869=) c.2533C>A (p.Arg845=) c.2467C>A (p.Arg823=) c.1828C>A (p.Arg610=) c.2446C>A (p.Arg816=) | dbSNP |
9 | g.137800976C= | CA1884679291 | EHMT1 | c.2704C= (p.Arg902=) c.2590C= (p.Arg864=) c.2611C= (p.Arg871=) c.2744C= (n.2744C=) c.598C= (p.Arg200=) c.382C= (p.Arg128=) c.1561C= (p.Arg521=) c.274C= (p.Arg92=) c.282C= n.230C= c.2695C= (p.Arg899=) c.2686C= (p.Arg896=) c.2713C= (p.Arg905=) c.2710C= (p.Arg904=) c.2692C= (p.Arg898=) c.2635C= (p.Arg879=) c.2569C= (p.Arg857=) c.1135C= (p.Arg379=) c.487C= (p.Arg163=) c.2548C= (p.Arg850=) c.2683C= (p.Arg895=) c.2689C= (p.Arg897=) c.2605C= (p.Arg869=) c.2533C= (p.Arg845=) c.2467C= (p.Arg823=) c.1828C= (p.Arg610=) c.2446C= (p.Arg816=) | |
9 | g.137800976C>G | CA375789053 | EHMT1 | c.2704C>G (p.Arg902Gly) c.2590C>G (p.Arg864Gly) c.2611C>G (p.Arg871Gly) c.2744C>G (n.2744C>G) c.598C>G (p.Arg200Gly) c.382C>G (p.Arg128Gly) c.1561C>G (p.Arg521Gly) c.274C>G (p.Arg92Gly) c.282C>G n.230C>G c.2695C>G (p.Arg899Gly) c.2686C>G (p.Arg896Gly) c.2713C>G (p.Arg905Gly) c.2710C>G (p.Arg904Gly) c.2692C>G (p.Arg898Gly) c.2635C>G (p.Arg879Gly) c.2569C>G (p.Arg857Gly) c.1135C>G (p.Arg379Gly) c.487C>G (p.Arg163Gly) c.2548C>G (p.Arg850Gly) c.2683C>G (p.Arg895Gly) c.2689C>G (p.Arg897Gly) c.2605C>G (p.Arg869Gly) c.2533C>G (p.Arg845Gly) c.2467C>G (p.Arg823Gly) c.1828C>G (p.Arg610Gly) c.2446C>G (p.Arg816Gly) | |
9 | g.137800976C>T | CA10603028 | EHMT1 | c.2704C>T (p.Arg902Ter) c.2590C>T (p.Arg864Ter) c.2611C>T (p.Arg871Ter) c.2744C>T (n.2744C>T) c.598C>T (p.Arg200Ter) c.382C>T (p.Arg128Ter) c.1561C>T (p.Arg521Ter) c.274C>T (p.Arg92Ter) c.282C>T n.230C>T c.2695C>T (p.Arg899Ter) c.2686C>T (p.Arg896Ter) c.2713C>T (p.Arg905Ter) c.2710C>T (p.Arg904Ter) c.2692C>T (p.Arg898Ter) c.2635C>T (p.Arg879Ter) c.2569C>T (p.Arg857Ter) c.1135C>T (p.Arg379Ter) c.487C>T (p.Arg163Ter) c.2548C>T (p.Arg850Ter) c.2683C>T (p.Arg895Ter) c.2689C>T (p.Arg897Ter) c.2605C>T (p.Arg869Ter) c.2533C>T (p.Arg845Ter) c.2467C>T (p.Arg823Ter) c.1828C>T (p.Arg610Ter) c.2446C>T (p.Arg816Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.137800977G>A | CA223772 | EHMT1 | c.2705G>A (p.Arg902Gln) c.2591G>A (p.Arg864Gln) c.2612G>A (p.Arg871Gln) c.2745G>A (n.2745G>A) c.599G>A (p.Arg200Gln) c.383G>A (p.Arg128Gln) c.1562G>A (p.Arg521Gln) c.275G>A (p.Arg92Gln) c.283G>A n.231G>A c.2696G>A (p.Arg899Gln) c.2687G>A (p.Arg896Gln) c.2714G>A (p.Arg905Gln) c.2711G>A (p.Arg904Gln) c.2693G>A (p.Arg898Gln) c.2636G>A (p.Arg879Gln) c.2570G>A (p.Arg857Gln) c.1136G>A (p.Arg379Gln) c.488G>A (p.Arg163Gln) c.2549G>A (p.Arg850Gln) c.2684G>A (p.Arg895Gln) c.2690G>A (p.Arg897Gln) c.2606G>A (p.Arg869Gln) c.2534G>A (p.Arg845Gln) c.2468G>A (p.Arg823Gln) c.1829G>A (p.Arg610Gln) c.2447G>A (p.Arg816Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800977G>C | CA375789056 | EHMT1 | c.2705G>C (p.Arg902Pro) c.2591G>C (p.Arg864Pro) c.2612G>C (p.Arg871Pro) c.2745G>C (n.2745G>C) c.599G>C (p.Arg200Pro) c.383G>C (p.Arg128Pro) c.1562G>C (p.Arg521Pro) c.275G>C (p.Arg92Pro) c.283G>C n.231G>C c.2696G>C (p.Arg899Pro) c.2687G>C (p.Arg896Pro) c.2714G>C (p.Arg905Pro) c.2711G>C (p.Arg904Pro) c.2693G>C (p.Arg898Pro) c.2636G>C (p.Arg879Pro) c.2570G>C (p.Arg857Pro) c.1136G>C (p.Arg379Pro) c.488G>C (p.Arg163Pro) c.2549G>C (p.Arg850Pro) c.2684G>C (p.Arg895Pro) c.2690G>C (p.Arg897Pro) c.2606G>C (p.Arg869Pro) c.2534G>C (p.Arg845Pro) c.2468G>C (p.Arg823Pro) c.1829G>C (p.Arg610Pro) c.2447G>C (p.Arg816Pro) | |
9 | g.137800977G= | CA1884679292 | EHMT1 | c.2705G= (p.Arg902=) c.2591G= (p.Arg864=) c.2612G= (p.Arg871=) c.2745G= (n.2745G=) c.599G= (p.Arg200=) c.383G= (p.Arg128=) c.1562G= (p.Arg521=) c.275G= (p.Arg92=) c.283G= n.231G= c.2696G= (p.Arg899=) c.2687G= (p.Arg896=) c.2714G= (p.Arg905=) c.2711G= (p.Arg904=) c.2693G= (p.Arg898=) c.2636G= (p.Arg879=) c.2570G= (p.Arg857=) c.1136G= (p.Arg379=) c.488G= (p.Arg163=) c.2549G= (p.Arg850=) c.2684G= (p.Arg895=) c.2690G= (p.Arg897=) c.2606G= (p.Arg869=) c.2534G= (p.Arg845=) c.2468G= (p.Arg823=) c.1829G= (p.Arg610=) c.2447G= (p.Arg816=) | |
9 | g.137800977G>T | CA375789057 | EHMT1 | c.2705G>T (p.Arg902Leu) c.2591G>T (p.Arg864Leu) c.2612G>T (p.Arg871Leu) c.2745G>T (n.2745G>T) c.599G>T (p.Arg200Leu) c.383G>T (p.Arg128Leu) c.1562G>T (p.Arg521Leu) c.275G>T (p.Arg92Leu) c.283G>T n.231G>T c.2696G>T (p.Arg899Leu) c.2687G>T (p.Arg896Leu) c.2714G>T (p.Arg905Leu) c.2711G>T (p.Arg904Leu) c.2693G>T (p.Arg898Leu) c.2636G>T (p.Arg879Leu) c.2570G>T (p.Arg857Leu) c.1136G>T (p.Arg379Leu) c.488G>T (p.Arg163Leu) c.2549G>T (p.Arg850Leu) c.2684G>T (p.Arg895Leu) c.2690G>T (p.Arg897Leu) c.2606G>T (p.Arg869Leu) c.2534G>T (p.Arg845Leu) c.2468G>T (p.Arg823Leu) c.1829G>T (p.Arg610Leu) c.2447G>T (p.Arg816Leu) | |
9 | g.137800978A>C | CA467877678 | EHMT1 | c.2706A>C (p.Arg902=) c.2592A>C (p.Arg864=) c.2613A>C (p.Arg871=) c.2746A>C (n.2746A>C) c.600A>C (p.Arg200=) c.384A>C (p.Arg128=) c.1563A>C (p.Arg521=) c.276A>C (p.Arg92=) c.284A>C n.232A>C c.2697A>C (p.Arg899=) c.2688A>C (p.Arg896=) c.2715A>C (p.Arg905=) c.2712A>C (p.Arg904=) c.2694A>C (p.Arg898=) c.2637A>C (p.Arg879=) c.2571A>C (p.Arg857=) c.1137A>C (p.Arg379=) c.489A>C (p.Arg163=) c.2550A>C (p.Arg850=) c.2685A>C (p.Arg895=) c.2691A>C (p.Arg897=) c.2607A>C (p.Arg869=) c.2535A>C (p.Arg845=) c.2469A>C (p.Arg823=) c.1830A>C (p.Arg610=) c.2448A>C (p.Arg816=) | |
9 | g.137800978A>G | CA467877679 | EHMT1 | c.2706A>G (p.Arg902=) c.2592A>G (p.Arg864=) c.2613A>G (p.Arg871=) c.2746A>G (n.2746A>G) c.600A>G (p.Arg200=) c.384A>G (p.Arg128=) c.1563A>G (p.Arg521=) c.276A>G (p.Arg92=) c.284A>G n.232A>G c.2697A>G (p.Arg899=) c.2688A>G (p.Arg896=) c.2715A>G (p.Arg905=) c.2712A>G (p.Arg904=) c.2694A>G (p.Arg898=) c.2637A>G (p.Arg879=) c.2571A>G (p.Arg857=) c.1137A>G (p.Arg379=) c.489A>G (p.Arg163=) c.2550A>G (p.Arg850=) c.2685A>G (p.Arg895=) c.2691A>G (p.Arg897=) c.2607A>G (p.Arg869=) c.2535A>G (p.Arg845=) c.2469A>G (p.Arg823=) c.1830A>G (p.Arg610=) c.2448A>G (p.Arg816=) | dbSNP |
9 | g.137800978A>T | CA467877680 | EHMT1 | c.2706A>T (p.Arg902=) c.2592A>T (p.Arg864=) c.2613A>T (p.Arg871=) c.2746A>T (n.2746A>T) c.600A>T (p.Arg200=) c.384A>T (p.Arg128=) c.1563A>T (p.Arg521=) c.276A>T (p.Arg92=) c.284A>T n.232A>T c.2697A>T (p.Arg899=) c.2688A>T (p.Arg896=) c.2715A>T (p.Arg905=) c.2712A>T (p.Arg904=) c.2694A>T (p.Arg898=) c.2637A>T (p.Arg879=) c.2571A>T (p.Arg857=) c.1137A>T (p.Arg379=) c.489A>T (p.Arg163=) c.2550A>T (p.Arg850=) c.2685A>T (p.Arg895=) c.2691A>T (p.Arg897=) c.2607A>T (p.Arg869=) c.2535A>T (p.Arg845=) c.2469A>T (p.Arg823=) c.1830A>T (p.Arg610=) c.2448A>T (p.Arg816=) | COSMIC COSMIC |
9 | g.137800979G>A | CA375789061 | EHMT1 | c.2707G>A (p.Asp903Asn) c.2593G>A (p.Asp865Asn) c.2614G>A (p.Asp872Asn) c.2747G>A (n.2747G>A) c.601G>A (p.Asp201Asn) c.385G>A (p.Asp129Asn) c.1564G>A (p.Asp522Asn) c.277G>A (p.Asp93Asn) c.285G>A n.233G>A c.2698G>A (p.Asp900Asn) c.2689G>A (p.Asp897Asn) c.2716G>A (p.Asp906Asn) c.2713G>A (p.Asp905Asn) c.2695G>A (p.Asp899Asn) c.2638G>A (p.Asp880Asn) c.2572G>A (p.Asp858Asn) c.1138G>A (p.Asp380Asn) c.490G>A (p.Asp164Asn) c.2551G>A (p.Asp851Asn) c.2686G>A (p.Asp896Asn) c.2692G>A (p.Asp898Asn) c.2608G>A (p.Asp870Asn) c.2536G>A (p.Asp846Asn) c.2470G>A (p.Asp824Asn) c.1831G>A (p.Asp611Asn) c.2449G>A (p.Asp817Asn) | |
9 | g.137800979G>C | CA375789062 | EHMT1 | c.2707G>C (p.Asp903His) c.2593G>C (p.Asp865His) c.2614G>C (p.Asp872His) c.2747G>C (n.2747G>C) c.601G>C (p.Asp201His) c.385G>C (p.Asp129His) c.1564G>C (p.Asp522His) c.277G>C (p.Asp93His) c.285G>C n.233G>C c.2698G>C (p.Asp900His) c.2689G>C (p.Asp897His) c.2716G>C (p.Asp906His) c.2713G>C (p.Asp905His) c.2695G>C (p.Asp899His) c.2638G>C (p.Asp880His) c.2572G>C (p.Asp858His) c.1138G>C (p.Asp380His) c.490G>C (p.Asp164His) c.2551G>C (p.Asp851His) c.2686G>C (p.Asp896His) c.2692G>C (p.Asp898His) c.2608G>C (p.Asp870His) c.2536G>C (p.Asp846His) c.2470G>C (p.Asp824His) c.1831G>C (p.Asp611His) c.2449G>C (p.Asp817His) | |
9 | g.137800979G>T | CA375789059 | EHMT1 | c.2707G>T (p.Asp903Tyr) c.2593G>T (p.Asp865Tyr) c.2614G>T (p.Asp872Tyr) c.2747G>T (n.2747G>T) c.601G>T (p.Asp201Tyr) c.385G>T (p.Asp129Tyr) c.1564G>T (p.Asp522Tyr) c.277G>T (p.Asp93Tyr) c.285G>T n.233G>T c.2698G>T (p.Asp900Tyr) c.2689G>T (p.Asp897Tyr) c.2716G>T (p.Asp906Tyr) c.2713G>T (p.Asp905Tyr) c.2695G>T (p.Asp899Tyr) c.2638G>T (p.Asp880Tyr) c.2572G>T (p.Asp858Tyr) c.1138G>T (p.Asp380Tyr) c.490G>T (p.Asp164Tyr) c.2551G>T (p.Asp851Tyr) c.2686G>T (p.Asp896Tyr) c.2692G>T (p.Asp898Tyr) c.2608G>T (p.Asp870Tyr) c.2536G>T (p.Asp846Tyr) c.2470G>T (p.Asp824Tyr) c.1831G>T (p.Asp611Tyr) c.2449G>T (p.Asp817Tyr) | |
9 | g.137800980A>C | CA375789064 | EHMT1 | c.2708A>C (p.Asp903Ala) c.2594A>C (p.Asp865Ala) c.2615A>C (p.Asp872Ala) c.2748A>C (n.2748A>C) c.602A>C (p.Asp201Ala) c.386A>C (p.Asp129Ala) c.1565A>C (p.Asp522Ala) c.278A>C (p.Asp93Ala) c.286A>C n.234A>C c.2699A>C (p.Asp900Ala) c.2690A>C (p.Asp897Ala) c.2717A>C (p.Asp906Ala) c.2714A>C (p.Asp905Ala) c.2696A>C (p.Asp899Ala) c.2639A>C (p.Asp880Ala) c.2573A>C (p.Asp858Ala) c.1139A>C (p.Asp380Ala) c.491A>C (p.Asp164Ala) c.2552A>C (p.Asp851Ala) c.2687A>C (p.Asp896Ala) c.2693A>C (p.Asp898Ala) c.2609A>C (p.Asp870Ala) c.2537A>C (p.Asp846Ala) c.2471A>C (p.Asp824Ala) c.1832A>C (p.Asp611Ala) c.2450A>C (p.Asp817Ala) | |
9 | g.137800980A>G | CA375789065 | EHMT1 | c.2708A>G (p.Asp903Gly) c.2594A>G (p.Asp865Gly) c.2615A>G (p.Asp872Gly) c.2748A>G (n.2748A>G) c.602A>G (p.Asp201Gly) c.386A>G (p.Asp129Gly) c.1565A>G (p.Asp522Gly) c.278A>G (p.Asp93Gly) c.286A>G n.234A>G c.2699A>G (p.Asp900Gly) c.2690A>G (p.Asp897Gly) c.2717A>G (p.Asp906Gly) c.2714A>G (p.Asp905Gly) c.2696A>G (p.Asp899Gly) c.2639A>G (p.Asp880Gly) c.2573A>G (p.Asp858Gly) c.1139A>G (p.Asp380Gly) c.491A>G (p.Asp164Gly) c.2552A>G (p.Asp851Gly) c.2687A>G (p.Asp896Gly) c.2693A>G (p.Asp898Gly) c.2609A>G (p.Asp870Gly) c.2537A>G (p.Asp846Gly) c.2471A>G (p.Asp824Gly) c.1832A>G (p.Asp611Gly) c.2450A>G (p.Asp817Gly) | |
9 | g.137800980A>T | CA375789067 | EHMT1 | c.2708A>T (p.Asp903Val) c.2594A>T (p.Asp865Val) c.2615A>T (p.Asp872Val) c.2748A>T (n.2748A>T) c.602A>T (p.Asp201Val) c.386A>T (p.Asp129Val) c.1565A>T (p.Asp522Val) c.278A>T (p.Asp93Val) c.286A>T n.234A>T c.2699A>T (p.Asp900Val) c.2690A>T (p.Asp897Val) c.2717A>T (p.Asp906Val) c.2714A>T (p.Asp905Val) c.2696A>T (p.Asp899Val) c.2639A>T (p.Asp880Val) c.2573A>T (p.Asp858Val) c.1139A>T (p.Asp380Val) c.491A>T (p.Asp164Val) c.2552A>T (p.Asp851Val) c.2687A>T (p.Asp896Val) c.2693A>T (p.Asp898Val) c.2609A>T (p.Asp870Val) c.2537A>T (p.Asp846Val) c.2471A>T (p.Asp824Val) c.1832A>T (p.Asp611Val) c.2450A>T (p.Asp817Val) | |
9 | g.137800981C>A | CA375789068 | EHMT1 | c.2709C>A (p.Asp903Glu) c.2595C>A (p.Asp865Glu) c.2616C>A (p.Asp872Glu) c.2749C>A (n.2749C>A) c.603C>A (p.Asp201Glu) c.387C>A (p.Asp129Glu) c.1566C>A (p.Asp522Glu) c.279C>A (p.Asp93Glu) c.287C>A n.235C>A c.2700C>A (p.Asp900Glu) c.2691C>A (p.Asp897Glu) c.2718C>A (p.Asp906Glu) c.2715C>A (p.Asp905Glu) c.2697C>A (p.Asp899Glu) c.2640C>A (p.Asp880Glu) c.2574C>A (p.Asp858Glu) c.1140C>A (p.Asp380Glu) c.492C>A (p.Asp164Glu) c.2553C>A (p.Asp851Glu) c.2688C>A (p.Asp896Glu) c.2694C>A (p.Asp898Glu) c.2610C>A (p.Asp870Glu) c.2538C>A (p.Asp846Glu) c.2472C>A (p.Asp824Glu) c.1833C>A (p.Asp611Glu) c.2451C>A (p.Asp817Glu) | |
9 | g.137800981C>G | CA375789069 | EHMT1 | c.2709C>G (p.Asp903Glu) c.2595C>G (p.Asp865Glu) c.2616C>G (p.Asp872Glu) c.2749C>G (n.2749C>G) c.603C>G (p.Asp201Glu) c.387C>G (p.Asp129Glu) c.1566C>G (p.Asp522Glu) c.279C>G (p.Asp93Glu) c.287C>G n.235C>G c.2700C>G (p.Asp900Glu) c.2691C>G (p.Asp897Glu) c.2718C>G (p.Asp906Glu) c.2715C>G (p.Asp905Glu) c.2697C>G (p.Asp899Glu) c.2640C>G (p.Asp880Glu) c.2574C>G (p.Asp858Glu) c.1140C>G (p.Asp380Glu) c.492C>G (p.Asp164Glu) c.2553C>G (p.Asp851Glu) c.2688C>G (p.Asp896Glu) c.2694C>G (p.Asp898Glu) c.2610C>G (p.Asp870Glu) c.2538C>G (p.Asp846Glu) c.2472C>G (p.Asp824Glu) c.1833C>G (p.Asp611Glu) c.2451C>G (p.Asp817Glu) | |
9 | g.137800981C>T | CA467877681 | EHMT1 | c.2709C>T (p.Asp903=) c.2595C>T (p.Asp865=) c.2616C>T (p.Asp872=) c.2749C>T (n.2749C>T) c.603C>T (p.Asp201=) c.387C>T (p.Asp129=) c.1566C>T (p.Asp522=) c.279C>T (p.Asp93=) c.287C>T n.235C>T c.2700C>T (p.Asp900=) c.2691C>T (p.Asp897=) c.2718C>T (p.Asp906=) c.2715C>T (p.Asp905=) c.2697C>T (p.Asp899=) c.2640C>T (p.Asp880=) c.2574C>T (p.Asp858=) c.1140C>T (p.Asp380=) c.492C>T (p.Asp164=) c.2553C>T (p.Asp851=) c.2688C>T (p.Asp896=) c.2694C>T (p.Asp898=) c.2610C>T (p.Asp870=) c.2538C>T (p.Asp846=) c.2472C>T (p.Asp824=) c.1833C>T (p.Asp611=) c.2451C>T (p.Asp817=) | |
9 | g.137800982A>C | CA375789074 | EHMT1 | c.2710A>C (p.Asn904His) c.2596A>C (p.Asn866His) c.2617A>C (p.Asn873His) c.2750A>C (n.2750A>C) c.604A>C (p.Asn202His) c.388A>C (p.Asn130His) c.1567A>C (p.Asn523His) c.280A>C (p.Asn94His) c.288A>C n.236A>C c.2701A>C (p.Asn901His) c.2692A>C (p.Asn898His) c.2719A>C (p.Asn907His) c.2716A>C (p.Asn906His) c.2698A>C (p.Asn900His) c.2641A>C (p.Asn881His) c.2575A>C (p.Asn859His) c.1141A>C (p.Asn381His) c.493A>C (p.Asn165His) c.2554A>C (p.Asn852His) c.2689A>C (p.Asn897His) c.2695A>C (p.Asn899His) c.2611A>C (p.Asn871His) c.2539A>C (p.Asn847His) c.2473A>C (p.Asn825His) c.1834A>C (p.Asn612His) c.2452A>C (p.Asn818His) | |
9 | g.137800982A>G | CA375789072 | EHMT1 | c.2710A>G (p.Asn904Asp) c.2596A>G (p.Asn866Asp) c.2617A>G (p.Asn873Asp) c.2750A>G (n.2750A>G) c.604A>G (p.Asn202Asp) c.388A>G (p.Asn130Asp) c.1567A>G (p.Asn523Asp) c.280A>G (p.Asn94Asp) c.288A>G n.236A>G c.2701A>G (p.Asn901Asp) c.2692A>G (p.Asn898Asp) c.2719A>G (p.Asn907Asp) c.2716A>G (p.Asn906Asp) c.2698A>G (p.Asn900Asp) c.2641A>G (p.Asn881Asp) c.2575A>G (p.Asn859Asp) c.1141A>G (p.Asn381Asp) c.493A>G (p.Asn165Asp) c.2554A>G (p.Asn852Asp) c.2689A>G (p.Asn897Asp) c.2695A>G (p.Asn899Asp) c.2611A>G (p.Asn871Asp) c.2539A>G (p.Asn847Asp) c.2473A>G (p.Asn825Asp) c.1834A>G (p.Asn612Asp) c.2452A>G (p.Asn818Asp) | |
9 | g.137800982A>T | CA375789071 | EHMT1 | c.2710A>T (p.Asn904Tyr) c.2596A>T (p.Asn866Tyr) c.2617A>T (p.Asn873Tyr) c.2750A>T (n.2750A>T) c.604A>T (p.Asn202Tyr) c.388A>T (p.Asn130Tyr) c.1567A>T (p.Asn523Tyr) c.280A>T (p.Asn94Tyr) c.288A>T n.236A>T c.2701A>T (p.Asn901Tyr) c.2692A>T (p.Asn898Tyr) c.2719A>T (p.Asn907Tyr) c.2716A>T (p.Asn906Tyr) c.2698A>T (p.Asn900Tyr) c.2641A>T (p.Asn881Tyr) c.2575A>T (p.Asn859Tyr) c.1141A>T (p.Asn381Tyr) c.493A>T (p.Asn165Tyr) c.2554A>T (p.Asn852Tyr) c.2689A>T (p.Asn897Tyr) c.2695A>T (p.Asn899Tyr) c.2611A>T (p.Asn871Tyr) c.2539A>T (p.Asn847Tyr) c.2473A>T (p.Asn825Tyr) c.1834A>T (p.Asn612Tyr) c.2452A>T (p.Asn818Tyr) | |
9 | g.137800983A>C | CA375789076 | EHMT1 | c.2711A>C (p.Asn904Thr) c.2597A>C (p.Asn866Thr) c.2618A>C (p.Asn873Thr) c.2751A>C (n.2751A>C) c.605A>C (p.Asn202Thr) c.389A>C (p.Asn130Thr) c.1568A>C (p.Asn523Thr) c.281A>C (p.Asn94Thr) c.289A>C n.237A>C c.2702A>C (p.Asn901Thr) c.2693A>C (p.Asn898Thr) c.2720A>C (p.Asn907Thr) c.2717A>C (p.Asn906Thr) c.2699A>C (p.Asn900Thr) c.2642A>C (p.Asn881Thr) c.2576A>C (p.Asn859Thr) c.1142A>C (p.Asn381Thr) c.494A>C (p.Asn165Thr) c.2555A>C (p.Asn852Thr) c.2690A>C (p.Asn897Thr) c.2696A>C (p.Asn899Thr) c.2612A>C (p.Asn871Thr) c.2540A>C (p.Asn847Thr) c.2474A>C (p.Asn825Thr) c.1835A>C (p.Asn612Thr) c.2453A>C (p.Asn818Thr) | |
9 | g.137800983A>G | CA375789078 | EHMT1 | c.2711A>G (p.Asn904Ser) c.2597A>G (p.Asn866Ser) c.2618A>G (p.Asn873Ser) c.2751A>G (n.2751A>G) c.605A>G (p.Asn202Ser) c.389A>G (p.Asn130Ser) c.1568A>G (p.Asn523Ser) c.281A>G (p.Asn94Ser) c.289A>G n.237A>G c.2702A>G (p.Asn901Ser) c.2693A>G (p.Asn898Ser) c.2720A>G (p.Asn907Ser) c.2717A>G (p.Asn906Ser) c.2699A>G (p.Asn900Ser) c.2642A>G (p.Asn881Ser) c.2576A>G (p.Asn859Ser) c.1142A>G (p.Asn381Ser) c.494A>G (p.Asn165Ser) c.2555A>G (p.Asn852Ser) c.2690A>G (p.Asn897Ser) c.2696A>G (p.Asn899Ser) c.2612A>G (p.Asn871Ser) c.2540A>G (p.Asn847Ser) c.2474A>G (p.Asn825Ser) c.1835A>G (p.Asn612Ser) c.2453A>G (p.Asn818Ser) | |
9 | g.137800983A>T | CA375789079 | EHMT1 | c.2711A>T (p.Asn904Ile) c.2597A>T (p.Asn866Ile) c.2618A>T (p.Asn873Ile) c.2751A>T (n.2751A>T) c.605A>T (p.Asn202Ile) c.389A>T (p.Asn130Ile) c.1568A>T (p.Asn523Ile) c.281A>T (p.Asn94Ile) c.289A>T n.237A>T c.2702A>T (p.Asn901Ile) c.2693A>T (p.Asn898Ile) c.2720A>T (p.Asn907Ile) c.2717A>T (p.Asn906Ile) c.2699A>T (p.Asn900Ile) c.2642A>T (p.Asn881Ile) c.2576A>T (p.Asn859Ile) c.1142A>T (p.Asn381Ile) c.494A>T (p.Asn165Ile) c.2555A>T (p.Asn852Ile) c.2690A>T (p.Asn897Ile) c.2696A>T (p.Asn899Ile) c.2612A>T (p.Asn871Ile) c.2540A>T (p.Asn847Ile) c.2474A>T (p.Asn825Ile) c.1835A>T (p.Asn612Ile) c.2453A>T (p.Asn818Ile) | |
9 | g.137800984C>A | CA375789081 | EHMT1 | c.2712C>A (p.Asn904Lys) c.2598C>A (p.Asn866Lys) c.2619C>A (p.Asn873Lys) c.2752C>A (n.2752C>A) c.606C>A (p.Asn202Lys) c.390C>A (p.Asn130Lys) c.1569C>A (p.Asn523Lys) c.282C>A (p.Asn94Lys) c.290C>A n.238C>A c.2703C>A (p.Asn901Lys) c.2694C>A (p.Asn898Lys) c.2721C>A (p.Asn907Lys) c.2718C>A (p.Asn906Lys) c.2700C>A (p.Asn900Lys) c.2643C>A (p.Asn881Lys) c.2577C>A (p.Asn859Lys) c.1143C>A (p.Asn381Lys) c.495C>A (p.Asn165Lys) c.2556C>A (p.Asn852Lys) c.2691C>A (p.Asn897Lys) c.2697C>A (p.Asn899Lys) c.2613C>A (p.Asn871Lys) c.2541C>A (p.Asn847Lys) c.2475C>A (p.Asn825Lys) c.1836C>A (p.Asn612Lys) c.2454C>A (p.Asn818Lys) | |
9 | g.137800984C= | CA1884679293 | EHMT1 | c.2712C= (p.Asn904=) c.2598C= (p.Asn866=) c.2619C= (p.Asn873=) c.2752C= (n.2752C=) c.606C= (p.Asn202=) c.390C= (p.Asn130=) c.1569C= (p.Asn523=) c.282C= (p.Asn94=) c.290C= n.238C= c.2703C= (p.Asn901=) c.2694C= (p.Asn898=) c.2721C= (p.Asn907=) c.2718C= (p.Asn906=) c.2700C= (p.Asn900=) c.2643C= (p.Asn881=) c.2577C= (p.Asn859=) c.1143C= (p.Asn381=) c.495C= (p.Asn165=) c.2556C= (p.Asn852=) c.2691C= (p.Asn897=) c.2697C= (p.Asn899=) c.2613C= (p.Asn871=) c.2541C= (p.Asn847=) c.2475C= (p.Asn825=) c.1836C= (p.Asn612=) c.2454C= (p.Asn818=) | |
9 | g.137800984C>G | CA375789083 | EHMT1 | c.2712C>G (p.Asn904Lys) c.2598C>G (p.Asn866Lys) c.2619C>G (p.Asn873Lys) c.2752C>G (n.2752C>G) c.606C>G (p.Asn202Lys) c.390C>G (p.Asn130Lys) c.1569C>G (p.Asn523Lys) c.282C>G (p.Asn94Lys) c.290C>G n.238C>G c.2703C>G (p.Asn901Lys) c.2694C>G (p.Asn898Lys) c.2721C>G (p.Asn907Lys) c.2718C>G (p.Asn906Lys) c.2700C>G (p.Asn900Lys) c.2643C>G (p.Asn881Lys) c.2577C>G (p.Asn859Lys) c.1143C>G (p.Asn381Lys) c.495C>G (p.Asn165Lys) c.2556C>G (p.Asn852Lys) c.2691C>G (p.Asn897Lys) c.2697C>G (p.Asn899Lys) c.2613C>G (p.Asn871Lys) c.2541C>G (p.Asn847Lys) c.2475C>G (p.Asn825Lys) c.1836C>G (p.Asn612Lys) c.2454C>G (p.Asn818Lys) | |
9 | g.137800984C>T | CA5375024 | EHMT1 | c.2712C>T (p.Asn904=) c.2598C>T (p.Asn866=) c.2619C>T (p.Asn873=) c.2752C>T (n.2752C>T) c.606C>T (p.Asn202=) c.390C>T (p.Asn130=) c.1569C>T (p.Asn523=) c.282C>T (p.Asn94=) c.290C>T n.238C>T c.2703C>T (p.Asn901=) c.2694C>T (p.Asn898=) c.2721C>T (p.Asn907=) c.2718C>T (p.Asn906=) c.2700C>T (p.Asn900=) c.2643C>T (p.Asn881=) c.2577C>T (p.Asn859=) c.1143C>T (p.Asn381=) c.495C>T (p.Asn165=) c.2556C>T (p.Asn852=) c.2691C>T (p.Asn897=) c.2697C>T (p.Asn899=) c.2613C>T (p.Asn871=) c.2541C>T (p.Asn847=) c.2475C>T (p.Asn825=) c.1836C>T (p.Asn612=) c.2454C>T (p.Asn818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800987_137801015del | CA2573320291 | EHMT1 | c.2712+3_2712+31del c.2598+3_2598+31del c.2619+3_2619+31del c.2752+3_2752+31del c.606+3_606+31del c.390+3_390+31del c.1569+3_1569+31del c.282+3_282+31del c.290+3_290+31del n.238+3_238+31del c.2703+3_2703+31del c.2694+3_2694+31del c.2721+3_2721+31del c.2718+3_2718+31del c.2700+3_2700+31del c.2643+3_2643+31del c.2577+3_2577+31del c.1143+3_1143+31del c.495+3_495+31del c.2556+3_2556+31del c.2691+3_2691+31del c.2697+3_2697+31del c.2613+3_2613+31del c.2541+3_2541+31del c.2475+3_2475+31del c.1836+3_1836+31del c.2454+3_2454+31del | |
9 | g.137800985G>A | CA16043442 | EHMT1 | c.2712+1G>A (n.2712+1G>A) c.2598+1G>A (n.2598+1G>A) c.2619+1G>A (n.2619+1G>A) c.2752+1G>A (n.2752+1G>A) c.606+1G>A (n.606+1G>A) c.390+1G>A (n.390+1G>A) c.1569+1G>A (n.1569+1G>A) c.282+1G>A (n.282+1G>A) c.290+1G>A n.238+1G>A c.2703+1G>A (n.2703+1G>A) c.2694+1G>A (n.2694+1G>A) c.2721+1G>A (n.2721+1G>A) c.2718+1G>A (n.2718+1G>A) c.2700+1G>A (n.2700+1G>A) c.2643+1G>A (n.2643+1G>A) c.2577+1G>A (n.2577+1G>A) c.1143+1G>A (n.1143+1G>A) c.495+1G>A (n.495+1G>A) c.2556+1G>A (n.2556+1G>A) c.2691+1G>A (n.2691+1G>A) c.2697+1G>A (n.2697+1G>A) c.2613+1G>A (n.2613+1G>A) c.2541+1G>A (n.2541+1G>A) c.2475+1G>A (n.2475+1G>A) c.1836+1G>A (n.1836+1G>A) c.2454+1G>A (n.2454+1G>A) | ClinVar dbSNP COSMIC COSMIC |
9 | g.137800985G>C | CA16618819 | EHMT1 | c.2712+1G>C (n.2712+1G>C) c.2598+1G>C (n.2598+1G>C) c.2619+1G>C (n.2619+1G>C) c.2752+1G>C (n.2752+1G>C) c.606+1G>C (n.606+1G>C) c.390+1G>C (n.390+1G>C) c.1569+1G>C (n.1569+1G>C) c.282+1G>C (n.282+1G>C) c.290+1G>C n.238+1G>C c.2703+1G>C (n.2703+1G>C) c.2694+1G>C (n.2694+1G>C) c.2721+1G>C (n.2721+1G>C) c.2718+1G>C (n.2718+1G>C) c.2700+1G>C (n.2700+1G>C) c.2643+1G>C (n.2643+1G>C) c.2577+1G>C (n.2577+1G>C) c.1143+1G>C (n.1143+1G>C) c.495+1G>C (n.495+1G>C) c.2556+1G>C (n.2556+1G>C) c.2691+1G>C (n.2691+1G>C) c.2697+1G>C (n.2697+1G>C) c.2613+1G>C (n.2613+1G>C) c.2541+1G>C (n.2541+1G>C) c.2475+1G>C (n.2475+1G>C) c.1836+1G>C (n.1836+1G>C) c.2454+1G>C (n.2454+1G>C) | ClinVar dbSNP |
9 | g.137800985G= | CA1884679294 | EHMT1 | c.2712+1G= (n.2712+1G=) c.2598+1G= (n.2598+1G=) c.2619+1G= (n.2619+1G=) c.2752+1G= (n.2752+1G=) c.606+1G= (n.606+1G=) c.390+1G= (n.390+1G=) c.1569+1G= (n.1569+1G=) c.282+1G= (n.282+1G=) c.290+1G= n.238+1G= c.2703+1G= (n.2703+1G=) c.2694+1G= (n.2694+1G=) c.2721+1G= (n.2721+1G=) c.2718+1G= (n.2718+1G=) c.2700+1G= (n.2700+1G=) c.2643+1G= (n.2643+1G=) c.2577+1G= (n.2577+1G=) c.1143+1G= (n.1143+1G=) c.495+1G= (n.495+1G=) c.2556+1G= (n.2556+1G=) c.2691+1G= (n.2691+1G=) c.2697+1G= (n.2697+1G=) c.2613+1G= (n.2613+1G=) c.2541+1G= (n.2541+1G=) c.2475+1G= (n.2475+1G=) c.1836+1G= (n.1836+1G=) c.2454+1G= (n.2454+1G=) | |
9 | g.137800985G>T | CA375789085 | EHMT1 | c.2712+1G>T (n.2712+1G>T) c.2598+1G>T (n.2598+1G>T) c.2619+1G>T (n.2619+1G>T) c.2752+1G>T (n.2752+1G>T) c.606+1G>T (n.606+1G>T) c.390+1G>T (n.390+1G>T) c.1569+1G>T (n.1569+1G>T) c.282+1G>T (n.282+1G>T) c.290+1G>T n.238+1G>T c.2703+1G>T (n.2703+1G>T) c.2694+1G>T (n.2694+1G>T) c.2721+1G>T (n.2721+1G>T) c.2718+1G>T (n.2718+1G>T) c.2700+1G>T (n.2700+1G>T) c.2643+1G>T (n.2643+1G>T) c.2577+1G>T (n.2577+1G>T) c.1143+1G>T (n.1143+1G>T) c.495+1G>T (n.495+1G>T) c.2556+1G>T (n.2556+1G>T) c.2691+1G>T (n.2691+1G>T) c.2697+1G>T (n.2697+1G>T) c.2613+1G>T (n.2613+1G>T) c.2541+1G>T (n.2541+1G>T) c.2475+1G>T (n.2475+1G>T) c.1836+1G>T (n.1836+1G>T) c.2454+1G>T (n.2454+1G>T) | |
9 | g.137800986T>A | CA375789087 | EHMT1 | c.2712+2T>A (n.2712+2T>A) c.2598+2T>A (n.2598+2T>A) c.2619+2T>A (n.2619+2T>A) c.2752+2T>A (n.2752+2T>A) c.606+2T>A (n.606+2T>A) c.390+2T>A (n.390+2T>A) c.1569+2T>A (n.1569+2T>A) c.282+2T>A (n.282+2T>A) c.290+2T>A n.238+2T>A c.2703+2T>A (n.2703+2T>A) c.2694+2T>A (n.2694+2T>A) c.2721+2T>A (n.2721+2T>A) c.2718+2T>A (n.2718+2T>A) c.2700+2T>A (n.2700+2T>A) c.2643+2T>A (n.2643+2T>A) c.2577+2T>A (n.2577+2T>A) c.1143+2T>A (n.1143+2T>A) c.495+2T>A (n.495+2T>A) c.2556+2T>A (n.2556+2T>A) c.2691+2T>A (n.2691+2T>A) c.2697+2T>A (n.2697+2T>A) c.2613+2T>A (n.2613+2T>A) c.2541+2T>A (n.2541+2T>A) c.2475+2T>A (n.2475+2T>A) c.1836+2T>A (n.1836+2T>A) c.2454+2T>A (n.2454+2T>A) | |
9 | g.137800986T>C | CA375789088 | EHMT1 | c.2712+2T>C (n.2712+2T>C) c.2598+2T>C (n.2598+2T>C) c.2619+2T>C (n.2619+2T>C) c.2752+2T>C (n.2752+2T>C) c.606+2T>C (n.606+2T>C) c.390+2T>C (n.390+2T>C) c.1569+2T>C (n.1569+2T>C) c.282+2T>C (n.282+2T>C) c.290+2T>C n.238+2T>C c.2703+2T>C (n.2703+2T>C) c.2694+2T>C (n.2694+2T>C) c.2721+2T>C (n.2721+2T>C) c.2718+2T>C (n.2718+2T>C) c.2700+2T>C (n.2700+2T>C) c.2643+2T>C (n.2643+2T>C) c.2577+2T>C (n.2577+2T>C) c.1143+2T>C (n.1143+2T>C) c.495+2T>C (n.495+2T>C) c.2556+2T>C (n.2556+2T>C) c.2691+2T>C (n.2691+2T>C) c.2697+2T>C (n.2697+2T>C) c.2613+2T>C (n.2613+2T>C) c.2541+2T>C (n.2541+2T>C) c.2475+2T>C (n.2475+2T>C) c.1836+2T>C (n.1836+2T>C) c.2454+2T>C (n.2454+2T>C) | |
9 | g.137800986T>G | CA375789089 | EHMT1 | c.2712+2T>G (n.2712+2T>G) c.2598+2T>G (n.2598+2T>G) c.2619+2T>G (n.2619+2T>G) c.2752+2T>G (n.2752+2T>G) c.606+2T>G (n.606+2T>G) c.390+2T>G (n.390+2T>G) c.1569+2T>G (n.1569+2T>G) c.282+2T>G (n.282+2T>G) c.290+2T>G n.238+2T>G c.2703+2T>G (n.2703+2T>G) c.2694+2T>G (n.2694+2T>G) c.2721+2T>G (n.2721+2T>G) c.2718+2T>G (n.2718+2T>G) c.2700+2T>G (n.2700+2T>G) c.2643+2T>G (n.2643+2T>G) c.2577+2T>G (n.2577+2T>G) c.1143+2T>G (n.1143+2T>G) c.495+2T>G (n.495+2T>G) c.2556+2T>G (n.2556+2T>G) c.2691+2T>G (n.2691+2T>G) c.2697+2T>G (n.2697+2T>G) c.2613+2T>G (n.2613+2T>G) c.2541+2T>G (n.2541+2T>G) c.2475+2T>G (n.2475+2T>G) c.1836+2T>G (n.1836+2T>G) c.2454+2T>G (n.2454+2T>G) | |
9 | g.137800986dup | CA918580785 | EHMT1 | c.2712+2dup (n.2712+2dup) c.2598+2dup (n.2598+2dup) c.2619+2dup (n.2619+2dup) c.2752+2dup (n.2752+2dup) c.606+2dup (n.606+2dup) c.390+2dup (n.390+2dup) c.1569+2dup (n.1569+2dup) c.282+2dup (n.282+2dup) c.290+2dup n.238+2dup c.2703+2dup (n.2703+2dup) c.2694+2dup (n.2694+2dup) c.2721+2dup (n.2721+2dup) c.2718+2dup (n.2718+2dup) c.2700+2dup (n.2700+2dup) c.2643+2dup (n.2643+2dup) c.2577+2dup (n.2577+2dup) c.1143+2dup (n.1143+2dup) c.495+2dup (n.495+2dup) c.2556+2dup (n.2556+2dup) c.2691+2dup (n.2691+2dup) c.2697+2dup (n.2697+2dup) c.2613+2dup (n.2613+2dup) c.2541+2dup (n.2541+2dup) c.2475+2dup (n.2475+2dup) c.1836+2dup (n.1836+2dup) c.2454+2dup (n.2454+2dup) | ClinVar dbSNP gnomAD v4 |
9 | g.137800987A>G | CA2692889260 | EHMT1 | c.2712+3A>G (n.2712+3A>G) c.2598+3A>G (n.2598+3A>G) c.2619+3A>G (n.2619+3A>G) c.2752+3A>G (n.2752+3A>G) c.606+3A>G (n.606+3A>G) c.390+3A>G (n.390+3A>G) c.1569+3A>G (n.1569+3A>G) c.282+3A>G (n.282+3A>G) c.290+3A>G n.238+3A>G c.2703+3A>G (n.2703+3A>G) c.2694+3A>G (n.2694+3A>G) c.2721+3A>G (n.2721+3A>G) c.2718+3A>G (n.2718+3A>G) c.2700+3A>G (n.2700+3A>G) c.2643+3A>G (n.2643+3A>G) c.2577+3A>G (n.2577+3A>G) c.1143+3A>G (n.1143+3A>G) c.495+3A>G (n.495+3A>G) c.2556+3A>G (n.2556+3A>G) c.2691+3A>G (n.2691+3A>G) c.2697+3A>G (n.2697+3A>G) c.2613+3A>G (n.2613+3A>G) c.2541+3A>G (n.2541+3A>G) c.2475+3A>G (n.2475+3A>G) c.1836+3A>G (n.1836+3A>G) c.2454+3A>G (n.2454+3A>G) | gnomAD v4 |
9 | g.137800989G>C | CA2573144342 | EHMT1 | c.2712+5G>C (n.2712+5G>C) c.2598+5G>C (n.2598+5G>C) c.2619+5G>C (n.2619+5G>C) c.2752+5G>C (n.2752+5G>C) c.606+5G>C (n.606+5G>C) c.390+5G>C (n.390+5G>C) c.1569+5G>C (n.1569+5G>C) c.282+5G>C (n.282+5G>C) c.290+5G>C n.238+5G>C c.2703+5G>C (n.2703+5G>C) c.2694+5G>C (n.2694+5G>C) c.2721+5G>C (n.2721+5G>C) c.2718+5G>C (n.2718+5G>C) c.2700+5G>C (n.2700+5G>C) c.2643+5G>C (n.2643+5G>C) c.2577+5G>C (n.2577+5G>C) c.1143+5G>C (n.1143+5G>C) c.495+5G>C (n.495+5G>C) c.2556+5G>C (n.2556+5G>C) c.2691+5G>C (n.2691+5G>C) c.2697+5G>C (n.2697+5G>C) c.2613+5G>C (n.2613+5G>C) c.2541+5G>C (n.2541+5G>C) c.2475+5G>C (n.2475+5G>C) c.1836+5G>C (n.1836+5G>C) c.2454+5G>C (n.2454+5G>C) | ClinVar dbSNP |
9 | g.137800991T>G | CA2573144343 | EHMT1 | c.2712+7T>G (n.2712+7T>G) c.2598+7T>G (n.2598+7T>G) c.2619+7T>G (n.2619+7T>G) c.2752+7T>G (n.2752+7T>G) c.606+7T>G (n.606+7T>G) c.390+7T>G (n.390+7T>G) c.1569+7T>G (n.1569+7T>G) c.282+7T>G (n.282+7T>G) c.290+7T>G n.238+7T>G c.2703+7T>G (n.2703+7T>G) c.2694+7T>G (n.2694+7T>G) c.2721+7T>G (n.2721+7T>G) c.2718+7T>G (n.2718+7T>G) c.2700+7T>G (n.2700+7T>G) c.2643+7T>G (n.2643+7T>G) c.2577+7T>G (n.2577+7T>G) c.1143+7T>G (n.1143+7T>G) c.495+7T>G (n.495+7T>G) c.2556+7T>G (n.2556+7T>G) c.2691+7T>G (n.2691+7T>G) c.2697+7T>G (n.2697+7T>G) c.2613+7T>G (n.2613+7T>G) c.2541+7T>G (n.2541+7T>G) c.2475+7T>G (n.2475+7T>G) c.1836+7T>G (n.1836+7T>G) c.2454+7T>G (n.2454+7T>G) | ClinVar dbSNP |
9 | g.137800992C= | CA1884679295 | EHMT1 | c.2712+8C= (n.2712+8C=) c.2598+8C= (n.2598+8C=) c.2619+8C= (n.2619+8C=) c.2752+8C= (n.2752+8C=) c.606+8C= (n.606+8C=) c.390+8C= (n.390+8C=) c.1569+8C= (n.1569+8C=) c.282+8C= (n.282+8C=) c.290+8C= n.238+8C= c.2703+8C= (n.2703+8C=) c.2694+8C= (n.2694+8C=) c.2721+8C= (n.2721+8C=) c.2718+8C= (n.2718+8C=) c.2700+8C= (n.2700+8C=) c.2643+8C= (n.2643+8C=) c.2577+8C= (n.2577+8C=) c.1143+8C= (n.1143+8C=) c.495+8C= (n.495+8C=) c.2556+8C= (n.2556+8C=) c.2691+8C= (n.2691+8C=) c.2697+8C= (n.2697+8C=) c.2613+8C= (n.2613+8C=) c.2541+8C= (n.2541+8C=) c.2475+8C= (n.2475+8C=) c.1836+8C= (n.1836+8C=) c.2454+8C= (n.2454+8C=) | |
9 | g.137800992C>G | CA2692889261 | EHMT1 | c.2712+8C>G (n.2712+8C>G) c.2598+8C>G (n.2598+8C>G) c.2619+8C>G (n.2619+8C>G) c.2752+8C>G (n.2752+8C>G) c.606+8C>G (n.606+8C>G) c.390+8C>G (n.390+8C>G) c.1569+8C>G (n.1569+8C>G) c.282+8C>G (n.282+8C>G) c.290+8C>G n.238+8C>G c.2703+8C>G (n.2703+8C>G) c.2694+8C>G (n.2694+8C>G) c.2721+8C>G (n.2721+8C>G) c.2718+8C>G (n.2718+8C>G) c.2700+8C>G (n.2700+8C>G) c.2643+8C>G (n.2643+8C>G) c.2577+8C>G (n.2577+8C>G) c.1143+8C>G (n.1143+8C>G) c.495+8C>G (n.495+8C>G) c.2556+8C>G (n.2556+8C>G) c.2691+8C>G (n.2691+8C>G) c.2697+8C>G (n.2697+8C>G) c.2613+8C>G (n.2613+8C>G) c.2541+8C>G (n.2541+8C>G) c.2475+8C>G (n.2475+8C>G) c.1836+8C>G (n.1836+8C>G) c.2454+8C>G (n.2454+8C>G) | gnomAD v4 |
9 | g.137800992C>T | CA5375025 | EHMT1 | c.2712+8C>T (n.2712+8C>T) c.2598+8C>T (n.2598+8C>T) c.2619+8C>T (n.2619+8C>T) c.2752+8C>T (n.2752+8C>T) c.606+8C>T (n.606+8C>T) c.390+8C>T (n.390+8C>T) c.1569+8C>T (n.1569+8C>T) c.282+8C>T (n.282+8C>T) c.290+8C>T n.238+8C>T c.2703+8C>T (n.2703+8C>T) c.2694+8C>T (n.2694+8C>T) c.2721+8C>T (n.2721+8C>T) c.2718+8C>T (n.2718+8C>T) c.2700+8C>T (n.2700+8C>T) c.2643+8C>T (n.2643+8C>T) c.2577+8C>T (n.2577+8C>T) c.1143+8C>T (n.1143+8C>T) c.495+8C>T (n.495+8C>T) c.2556+8C>T (n.2556+8C>T) c.2691+8C>T (n.2691+8C>T) c.2697+8C>T (n.2697+8C>T) c.2613+8C>T (n.2613+8C>T) c.2541+8C>T (n.2541+8C>T) c.2475+8C>T (n.2475+8C>T) c.1836+8C>T (n.1836+8C>T) c.2454+8C>T (n.2454+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800993G>A | CA208814 | EHMT1 | c.2712+9G>A (n.2712+9G>A) c.2598+9G>A (n.2598+9G>A) c.2619+9G>A (n.2619+9G>A) c.2752+9G>A (n.2752+9G>A) c.606+9G>A (n.606+9G>A) c.390+9G>A (n.390+9G>A) c.1569+9G>A (n.1569+9G>A) c.282+9G>A (n.282+9G>A) c.290+9G>A n.238+9G>A c.2703+9G>A (n.2703+9G>A) c.2694+9G>A (n.2694+9G>A) c.2721+9G>A (n.2721+9G>A) c.2718+9G>A (n.2718+9G>A) c.2700+9G>A (n.2700+9G>A) c.2643+9G>A (n.2643+9G>A) c.2577+9G>A (n.2577+9G>A) c.1143+9G>A (n.1143+9G>A) c.495+9G>A (n.495+9G>A) c.2556+9G>A (n.2556+9G>A) c.2691+9G>A (n.2691+9G>A) c.2697+9G>A (n.2697+9G>A) c.2613+9G>A (n.2613+9G>A) c.2541+9G>A (n.2541+9G>A) c.2475+9G>A (n.2475+9G>A) c.1836+9G>A (n.1836+9G>A) c.2454+9G>A (n.2454+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137800993G= | CA1884679296 | EHMT1 | c.2712+9G= (n.2712+9G=) c.2598+9G= (n.2598+9G=) c.2619+9G= (n.2619+9G=) c.2752+9G= (n.2752+9G=) c.606+9G= (n.606+9G=) c.390+9G= (n.390+9G=) c.1569+9G= (n.1569+9G=) c.282+9G= (n.282+9G=) c.290+9G= n.238+9G= c.2703+9G= (n.2703+9G=) c.2694+9G= (n.2694+9G=) c.2721+9G= (n.2721+9G=) c.2718+9G= (n.2718+9G=) c.2700+9G= (n.2700+9G=) c.2643+9G= (n.2643+9G=) c.2577+9G= (n.2577+9G=) c.1143+9G= (n.1143+9G=) c.495+9G= (n.495+9G=) c.2556+9G= (n.2556+9G=) c.2691+9G= (n.2691+9G=) c.2697+9G= (n.2697+9G=) c.2613+9G= (n.2613+9G=) c.2541+9G= (n.2541+9G=) c.2475+9G= (n.2475+9G=) c.1836+9G= (n.1836+9G=) c.2454+9G= (n.2454+9G=) | |
9 | g.137800994_137800996delinsTCA | CA1884679297 | EHMT1 | c.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) | |
9 | g.137800995C= | CA1884679298 | EHMT1 | c.2712+11C= (n.2712+11C=) c.2598+11C= (n.2598+11C=) c.2619+11C= (n.2619+11C=) c.2752+11C= (n.2752+11C=) c.606+11C= (n.606+11C=) c.390+11C= (n.390+11C=) c.1569+11C= (n.1569+11C=) c.282+11C= (n.282+11C=) c.290+11C= n.238+11C= c.2703+11C= (n.2703+11C=) c.2694+11C= (n.2694+11C=) c.2721+11C= (n.2721+11C=) c.2718+11C= (n.2718+11C=) c.2700+11C= (n.2700+11C=) c.2643+11C= (n.2643+11C=) c.2577+11C= (n.2577+11C=) c.1143+11C= (n.1143+11C=) c.495+11C= (n.495+11C=) c.2556+11C= (n.2556+11C=) c.2691+11C= (n.2691+11C=) c.2697+11C= (n.2697+11C=) c.2613+11C= (n.2613+11C=) c.2541+11C= (n.2541+11C=) c.2475+11C= (n.2475+11C=) c.1836+11C= (n.1836+11C=) c.2454+11C= (n.2454+11C=) | |
9 | g.137800995C>T | CA1884679299 | EHMT1 | c.2712+11C>T (n.2712+11C>T) c.2598+11C>T (n.2598+11C>T) c.2619+11C>T (n.2619+11C>T) c.2752+11C>T (n.2752+11C>T) c.606+11C>T (n.606+11C>T) c.390+11C>T (n.390+11C>T) c.1569+11C>T (n.1569+11C>T) c.282+11C>T (n.282+11C>T) c.290+11C>T n.238+11C>T c.2703+11C>T (n.2703+11C>T) c.2694+11C>T (n.2694+11C>T) c.2721+11C>T (n.2721+11C>T) c.2718+11C>T (n.2718+11C>T) c.2700+11C>T (n.2700+11C>T) c.2643+11C>T (n.2643+11C>T) c.2577+11C>T (n.2577+11C>T) c.1143+11C>T (n.1143+11C>T) c.495+11C>T (n.495+11C>T) c.2556+11C>T (n.2556+11C>T) c.2691+11C>T (n.2691+11C>T) c.2697+11C>T (n.2697+11C>T) c.2613+11C>T (n.2613+11C>T) c.2541+11C>T (n.2541+11C>T) c.2475+11C>T (n.2475+11C>T) c.1836+11C>T (n.1836+11C>T) c.2454+11C>T (n.2454+11C>T) | dbSNP gnomAD v4 |
9 | g.137800998_137800999del | CA591249527 | EHMT1 | c.2712+14_2712+15del (n.2712+14_2712+15del) c.2598+14_2598+15del (n.2598+14_2598+15del) c.2619+14_2619+15del (n.2619+14_2619+15del) c.2752+14_2752+15del (n.2752+14_2752+15del) c.606+14_606+15del (n.606+14_606+15del) c.390+14_390+15del (n.390+14_390+15del) c.1569+14_1569+15del (n.1569+14_1569+15del) c.282+14_282+15del (n.282+14_282+15del) c.290+14_290+15del n.238+14_238+15del c.2703+14_2703+15del (n.2703+14_2703+15del) c.2694+14_2694+15del (n.2694+14_2694+15del) c.2721+14_2721+15del (n.2721+14_2721+15del) c.2718+14_2718+15del (n.2718+14_2718+15del) c.2700+14_2700+15del (n.2700+14_2700+15del) c.2643+14_2643+15del (n.2643+14_2643+15del) c.2577+14_2577+15del (n.2577+14_2577+15del) c.1143+14_1143+15del (n.1143+14_1143+15del) c.495+14_495+15del (n.495+14_495+15del) c.2556+14_2556+15del (n.2556+14_2556+15del) c.2691+14_2691+15del (n.2691+14_2691+15del) c.2697+14_2697+15del (n.2697+14_2697+15del) c.2613+14_2613+15del (n.2613+14_2613+15del) c.2541+14_2541+15del (n.2541+14_2541+15del) c.2475+14_2475+15del (n.2475+14_2475+15del) c.1836+14_1836+15del (n.1836+14_1836+15del) c.2454+14_2454+15del (n.2454+14_2454+15del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.137800996A>G | CA2579536394 | EHMT1 | c.2712+12A>G (n.2712+12A>G) c.2598+12A>G (n.2598+12A>G) c.2619+12A>G (n.2619+12A>G) c.2752+12A>G (n.2752+12A>G) c.606+12A>G (n.606+12A>G) c.390+12A>G (n.390+12A>G) c.1569+12A>G (n.1569+12A>G) c.282+12A>G (n.282+12A>G) c.290+12A>G n.238+12A>G c.2703+12A>G (n.2703+12A>G) c.2694+12A>G (n.2694+12A>G) c.2721+12A>G (n.2721+12A>G) c.2718+12A>G (n.2718+12A>G) c.2700+12A>G (n.2700+12A>G) c.2643+12A>G (n.2643+12A>G) c.2577+12A>G (n.2577+12A>G) c.1143+12A>G (n.1143+12A>G) c.495+12A>G (n.495+12A>G) c.2556+12A>G (n.2556+12A>G) c.2691+12A>G (n.2691+12A>G) c.2697+12A>G (n.2697+12A>G) c.2613+12A>G (n.2613+12A>G) c.2541+12A>G (n.2541+12A>G) c.2475+12A>G (n.2475+12A>G) c.1836+12A>G (n.1836+12A>G) c.2454+12A>G (n.2454+12A>G) | |
9 | g.137800997C= | CA1884679300 | EHMT1 | c.2712+13C= (n.2712+13C=) c.2598+13C= (n.2598+13C=) c.2619+13C= (n.2619+13C=) c.2752+13C= (n.2752+13C=) c.606+13C= (n.606+13C=) c.390+13C= (n.390+13C=) c.1569+13C= (n.1569+13C=) c.282+13C= (n.282+13C=) c.290+13C= n.238+13C= c.2703+13C= (n.2703+13C=) c.2694+13C= (n.2694+13C=) c.2721+13C= (n.2721+13C=) c.2718+13C= (n.2718+13C=) c.2700+13C= (n.2700+13C=) c.2643+13C= (n.2643+13C=) c.2577+13C= (n.2577+13C=) c.1143+13C= (n.1143+13C=) c.495+13C= (n.495+13C=) c.2556+13C= (n.2556+13C=) c.2691+13C= (n.2691+13C=) c.2697+13C= (n.2697+13C=) c.2613+13C= (n.2613+13C=) c.2541+13C= (n.2541+13C=) c.2475+13C= (n.2475+13C=) c.1836+13C= (n.1836+13C=) c.2454+13C= (n.2454+13C=) | |
9 | g.137800997C>T | CA10633125 | EHMT1 | c.2712+13C>T (n.2712+13C>T) c.2598+13C>T (n.2598+13C>T) c.2619+13C>T (n.2619+13C>T) c.2752+13C>T (n.2752+13C>T) c.606+13C>T (n.606+13C>T) c.390+13C>T (n.390+13C>T) c.1569+13C>T (n.1569+13C>T) c.282+13C>T (n.282+13C>T) c.290+13C>T n.238+13C>T c.2703+13C>T (n.2703+13C>T) c.2694+13C>T (n.2694+13C>T) c.2721+13C>T (n.2721+13C>T) c.2718+13C>T (n.2718+13C>T) c.2700+13C>T (n.2700+13C>T) c.2643+13C>T (n.2643+13C>T) c.2577+13C>T (n.2577+13C>T) c.1143+13C>T (n.1143+13C>T) c.495+13C>T (n.495+13C>T) c.2556+13C>T (n.2556+13C>T) c.2691+13C>T (n.2691+13C>T) c.2697+13C>T (n.2697+13C>T) c.2613+13C>T (n.2613+13C>T) c.2541+13C>T (n.2541+13C>T) c.2475+13C>T (n.2475+13C>T) c.1836+13C>T (n.1836+13C>T) c.2454+13C>T (n.2454+13C>T) | dbSNP |
9 | g.137800998A= | CA1884679301 | EHMT1 | c.2712+14A= (n.2712+14A=) c.2598+14A= (n.2598+14A=) c.2619+14A= (n.2619+14A=) c.2752+14A= (n.2752+14A=) c.606+14A= (n.606+14A=) c.390+14A= (n.390+14A=) c.1569+14A= (n.1569+14A=) c.282+14A= (n.282+14A=) c.290+14A= n.238+14A= c.2703+14A= (n.2703+14A=) c.2694+14A= (n.2694+14A=) c.2721+14A= (n.2721+14A=) c.2718+14A= (n.2718+14A=) c.2700+14A= (n.2700+14A=) c.2643+14A= (n.2643+14A=) c.2577+14A= (n.2577+14A=) c.1143+14A= (n.1143+14A=) c.495+14A= (n.495+14A=) c.2556+14A= (n.2556+14A=) c.2691+14A= (n.2691+14A=) c.2697+14A= (n.2697+14A=) c.2613+14A= (n.2613+14A=) c.2541+14A= (n.2541+14A=) c.2475+14A= (n.2475+14A=) c.1836+14A= (n.1836+14A=) c.2454+14A= (n.2454+14A=) | |
9 | g.137800998A>C | CA1884679302 | EHMT1 | c.2712+14A>C (n.2712+14A>C) c.2598+14A>C (n.2598+14A>C) c.2619+14A>C (n.2619+14A>C) c.2752+14A>C (n.2752+14A>C) c.606+14A>C (n.606+14A>C) c.390+14A>C (n.390+14A>C) c.1569+14A>C (n.1569+14A>C) c.282+14A>C (n.282+14A>C) c.290+14A>C n.238+14A>C c.2703+14A>C (n.2703+14A>C) c.2694+14A>C (n.2694+14A>C) c.2721+14A>C (n.2721+14A>C) c.2718+14A>C (n.2718+14A>C) c.2700+14A>C (n.2700+14A>C) c.2643+14A>C (n.2643+14A>C) c.2577+14A>C (n.2577+14A>C) c.1143+14A>C (n.1143+14A>C) c.495+14A>C (n.495+14A>C) c.2556+14A>C (n.2556+14A>C) c.2691+14A>C (n.2691+14A>C) c.2697+14A>C (n.2697+14A>C) c.2613+14A>C (n.2613+14A>C) c.2541+14A>C (n.2541+14A>C) c.2475+14A>C (n.2475+14A>C) c.1836+14A>C (n.1836+14A>C) c.2454+14A>C (n.2454+14A>C) | dbSNP |
9 | g.137800998A>T | CA2692889262 | EHMT1 | c.2712+14A>T (n.2712+14A>T) c.2598+14A>T (n.2598+14A>T) c.2619+14A>T (n.2619+14A>T) c.2752+14A>T (n.2752+14A>T) c.606+14A>T (n.606+14A>T) c.390+14A>T (n.390+14A>T) c.1569+14A>T (n.1569+14A>T) c.282+14A>T (n.282+14A>T) c.290+14A>T n.238+14A>T c.2703+14A>T (n.2703+14A>T) c.2694+14A>T (n.2694+14A>T) c.2721+14A>T (n.2721+14A>T) c.2718+14A>T (n.2718+14A>T) c.2700+14A>T (n.2700+14A>T) c.2643+14A>T (n.2643+14A>T) c.2577+14A>T (n.2577+14A>T) c.1143+14A>T (n.1143+14A>T) c.495+14A>T (n.495+14A>T) c.2556+14A>T (n.2556+14A>T) c.2691+14A>T (n.2691+14A>T) c.2697+14A>T (n.2697+14A>T) c.2613+14A>T (n.2613+14A>T) c.2541+14A>T (n.2541+14A>T) c.2475+14A>T (n.2475+14A>T) c.1836+14A>T (n.1836+14A>T) c.2454+14A>T (n.2454+14A>T) | gnomAD v4 |
9 | g.137800999C= | CA1884679303 | EHMT1 | c.2712+15C= (n.2712+15C=) c.2598+15C= (n.2598+15C=) c.2619+15C= (n.2619+15C=) c.2752+15C= (n.2752+15C=) c.606+15C= (n.606+15C=) c.390+15C= (n.390+15C=) c.1569+15C= (n.1569+15C=) c.282+15C= (n.282+15C=) c.290+15C= n.238+15C= c.2703+15C= (n.2703+15C=) c.2694+15C= (n.2694+15C=) c.2721+15C= (n.2721+15C=) c.2718+15C= (n.2718+15C=) c.2700+15C= (n.2700+15C=) c.2643+15C= (n.2643+15C=) c.2577+15C= (n.2577+15C=) c.1143+15C= (n.1143+15C=) c.495+15C= (n.495+15C=) c.2556+15C= (n.2556+15C=) c.2691+15C= (n.2691+15C=) c.2697+15C= (n.2697+15C=) c.2613+15C= (n.2613+15C=) c.2541+15C= (n.2541+15C=) c.2475+15C= (n.2475+15C=) c.1836+15C= (n.1836+15C=) c.2454+15C= (n.2454+15C=) | |
9 | g.137800999C>T | CA5375026 | EHMT1 | c.2712+15C>T (n.2712+15C>T) c.2598+15C>T (n.2598+15C>T) c.2619+15C>T (n.2619+15C>T) c.2752+15C>T (n.2752+15C>T) c.606+15C>T (n.606+15C>T) c.390+15C>T (n.390+15C>T) c.1569+15C>T (n.1569+15C>T) c.282+15C>T (n.282+15C>T) c.290+15C>T n.238+15C>T c.2703+15C>T (n.2703+15C>T) c.2694+15C>T (n.2694+15C>T) c.2721+15C>T (n.2721+15C>T) c.2718+15C>T (n.2718+15C>T) c.2700+15C>T (n.2700+15C>T) c.2643+15C>T (n.2643+15C>T) c.2577+15C>T (n.2577+15C>T) c.1143+15C>T (n.1143+15C>T) c.495+15C>T (n.495+15C>T) c.2556+15C>T (n.2556+15C>T) c.2691+15C>T (n.2691+15C>T) c.2697+15C>T (n.2697+15C>T) c.2613+15C>T (n.2613+15C>T) c.2541+15C>T (n.2541+15C>T) c.2475+15C>T (n.2475+15C>T) c.1836+15C>T (n.1836+15C>T) c.2454+15C>T (n.2454+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137801003C>G | CA2692889264 | EHMT1 | c.2712+19C>G (n.2712+19C>G) c.2598+19C>G (n.2598+19C>G) c.2619+19C>G (n.2619+19C>G) c.2752+19C>G (n.2752+19C>G) c.606+19C>G (n.606+19C>G) c.390+19C>G (n.390+19C>G) c.1569+19C>G (n.1569+19C>G) c.282+19C>G (n.282+19C>G) c.290+19C>G n.238+19C>G c.2703+19C>G (n.2703+19C>G) c.2694+19C>G (n.2694+19C>G) c.2721+19C>G (n.2721+19C>G) c.2718+19C>G (n.2718+19C>G) c.2700+19C>G (n.2700+19C>G) c.2643+19C>G (n.2643+19C>G) c.2577+19C>G (n.2577+19C>G) c.1143+19C>G (n.1143+19C>G) c.495+19C>G (n.495+19C>G) c.2556+19C>G (n.2556+19C>G) c.2691+19C>G (n.2691+19C>G) c.2697+19C>G (n.2697+19C>G) c.2613+19C>G (n.2613+19C>G) c.2541+19C>G (n.2541+19C>G) c.2475+19C>G (n.2475+19C>G) c.1836+19C>G (n.1836+19C>G) c.2454+19C>G (n.2454+19C>G) | gnomAD v4 |
9 | g.137801006del | CA2692889263 | EHMT1 | c.2712+22del (n.2712+22del) c.2598+22del (n.2598+22del) c.2619+22del (n.2619+22del) c.2752+22del (n.2752+22del) c.606+22del (n.606+22del) c.390+22del (n.390+22del) c.1569+22del (n.1569+22del) c.282+22del (n.282+22del) c.290+22del n.238+22del c.2703+22del (n.2703+22del) c.2694+22del (n.2694+22del) c.2721+22del (n.2721+22del) c.2718+22del (n.2718+22del) c.2700+22del (n.2700+22del) c.2643+22del (n.2643+22del) c.2577+22del (n.2577+22del) c.1143+22del (n.1143+22del) c.495+22del (n.495+22del) c.2556+22del (n.2556+22del) c.2691+22del (n.2691+22del) c.2697+22del (n.2697+22del) c.2613+22del (n.2613+22del) c.2541+22del (n.2541+22del) c.2475+22del (n.2475+22del) c.1836+22del (n.1836+22del) c.2454+22del (n.2454+22del) | gnomAD v4 |
9 | g.137801004C>T | CA2692889265 | EHMT1 | c.2712+20C>T (n.2712+20C>T) c.2598+20C>T (n.2598+20C>T) c.2619+20C>T (n.2619+20C>T) c.2752+20C>T (n.2752+20C>T) c.606+20C>T (n.606+20C>T) c.390+20C>T (n.390+20C>T) c.1569+20C>T (n.1569+20C>T) c.282+20C>T (n.282+20C>T) c.290+20C>T n.238+20C>T c.2703+20C>T (n.2703+20C>T) c.2694+20C>T (n.2694+20C>T) c.2721+20C>T (n.2721+20C>T) c.2718+20C>T (n.2718+20C>T) c.2700+20C>T (n.2700+20C>T) c.2643+20C>T (n.2643+20C>T) c.2577+20C>T (n.2577+20C>T) c.1143+20C>T (n.1143+20C>T) c.495+20C>T (n.495+20C>T) c.2556+20C>T (n.2556+20C>T) c.2691+20C>T (n.2691+20C>T) c.2697+20C>T (n.2697+20C>T) c.2613+20C>T (n.2613+20C>T) c.2541+20C>T (n.2541+20C>T) c.2475+20C>T (n.2475+20C>T) c.1836+20C>T (n.1836+20C>T) c.2454+20C>T (n.2454+20C>T) | ClinVar gnomAD v4 |
9 | g.137801006C>A | CA2692889266 | EHMT1 | c.2712+22C>A (n.2712+22C>A) c.2598+22C>A (n.2598+22C>A) c.2619+22C>A (n.2619+22C>A) c.2752+22C>A (n.2752+22C>A) c.606+22C>A (n.606+22C>A) c.390+22C>A (n.390+22C>A) c.1569+22C>A (n.1569+22C>A) c.282+22C>A (n.282+22C>A) c.290+22C>A n.238+22C>A c.2703+22C>A (n.2703+22C>A) c.2694+22C>A (n.2694+22C>A) c.2721+22C>A (n.2721+22C>A) c.2718+22C>A (n.2718+22C>A) c.2700+22C>A (n.2700+22C>A) c.2643+22C>A (n.2643+22C>A) c.2577+22C>A (n.2577+22C>A) c.1143+22C>A (n.1143+22C>A) c.495+22C>A (n.495+22C>A) c.2556+22C>A (n.2556+22C>A) c.2691+22C>A (n.2691+22C>A) c.2697+22C>A (n.2697+22C>A) c.2613+22C>A (n.2613+22C>A) c.2541+22C>A (n.2541+22C>A) c.2475+22C>A (n.2475+22C>A) c.1836+22C>A (n.1836+22C>A) c.2454+22C>A (n.2454+22C>A) | gnomAD v4 |
9 | g.137801006C= | CA1884679304 | EHMT1 | c.2712+22C= (n.2712+22C=) c.2598+22C= (n.2598+22C=) c.2619+22C= (n.2619+22C=) c.2752+22C= (n.2752+22C=) c.606+22C= (n.606+22C=) c.390+22C= (n.390+22C=) c.1569+22C= (n.1569+22C=) c.282+22C= (n.282+22C=) c.290+22C= n.238+22C= c.2703+22C= (n.2703+22C=) c.2694+22C= (n.2694+22C=) c.2721+22C= (n.2721+22C=) c.2718+22C= (n.2718+22C=) c.2700+22C= (n.2700+22C=) c.2643+22C= (n.2643+22C=) c.2577+22C= (n.2577+22C=) c.1143+22C= (n.1143+22C=) c.495+22C= (n.495+22C=) c.2556+22C= (n.2556+22C=) c.2691+22C= (n.2691+22C=) c.2697+22C= (n.2697+22C=) c.2613+22C= (n.2613+22C=) c.2541+22C= (n.2541+22C=) c.2475+22C= (n.2475+22C=) c.1836+22C= (n.1836+22C=) c.2454+22C= (n.2454+22C=) | |
9 | g.137801006C>G | CA5375028 | EHMT1 | c.2712+22C>G (n.2712+22C>G) c.2598+22C>G (n.2598+22C>G) c.2619+22C>G (n.2619+22C>G) c.2752+22C>G (n.2752+22C>G) c.606+22C>G (n.606+22C>G) c.390+22C>G (n.390+22C>G) c.1569+22C>G (n.1569+22C>G) c.282+22C>G (n.282+22C>G) c.290+22C>G n.238+22C>G c.2703+22C>G (n.2703+22C>G) c.2694+22C>G (n.2694+22C>G) c.2721+22C>G (n.2721+22C>G) c.2718+22C>G (n.2718+22C>G) c.2700+22C>G (n.2700+22C>G) c.2643+22C>G (n.2643+22C>G) c.2577+22C>G (n.2577+22C>G) c.1143+22C>G (n.1143+22C>G) c.495+22C>G (n.495+22C>G) c.2556+22C>G (n.2556+22C>G) c.2691+22C>G (n.2691+22C>G) c.2697+22C>G (n.2697+22C>G) c.2613+22C>G (n.2613+22C>G) c.2541+22C>G (n.2541+22C>G) c.2475+22C>G (n.2475+22C>G) c.1836+22C>G (n.1836+22C>G) c.2454+22C>G (n.2454+22C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137801006C>T | CA5375027 | EHMT1 | c.2712+22C>T (n.2712+22C>T) c.2598+22C>T (n.2598+22C>T) c.2619+22C>T (n.2619+22C>T) c.2752+22C>T (n.2752+22C>T) c.606+22C>T (n.606+22C>T) c.390+22C>T (n.390+22C>T) c.1569+22C>T (n.1569+22C>T) c.282+22C>T (n.282+22C>T) c.290+22C>T n.238+22C>T c.2703+22C>T (n.2703+22C>T) c.2694+22C>T (n.2694+22C>T) c.2721+22C>T (n.2721+22C>T) c.2718+22C>T (n.2718+22C>T) c.2700+22C>T (n.2700+22C>T) c.2643+22C>T (n.2643+22C>T) c.2577+22C>T (n.2577+22C>T) c.1143+22C>T (n.1143+22C>T) c.495+22C>T (n.495+22C>T) c.2556+22C>T (n.2556+22C>T) c.2691+22C>T (n.2691+22C>T) c.2697+22C>T (n.2697+22C>T) c.2613+22C>T (n.2613+22C>T) c.2541+22C>T (n.2541+22C>T) c.2475+22C>T (n.2475+22C>T) c.1836+22C>T (n.1836+22C>T) c.2454+22C>T (n.2454+22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801007G>A | CA5375029 | EHMT1 | c.2712+23G>A (n.2712+23G>A) c.2598+23G>A (n.2598+23G>A) c.2619+23G>A (n.2619+23G>A) c.2752+23G>A (n.2752+23G>A) c.606+23G>A (n.606+23G>A) c.390+23G>A (n.390+23G>A) c.1569+23G>A (n.1569+23G>A) c.282+23G>A (n.282+23G>A) c.290+23G>A n.238+23G>A c.2703+23G>A (n.2703+23G>A) c.2694+23G>A (n.2694+23G>A) c.2721+23G>A (n.2721+23G>A) c.2718+23G>A (n.2718+23G>A) c.2700+23G>A (n.2700+23G>A) c.2643+23G>A (n.2643+23G>A) c.2577+23G>A (n.2577+23G>A) c.1143+23G>A (n.1143+23G>A) c.495+23G>A (n.495+23G>A) c.2556+23G>A (n.2556+23G>A) c.2691+23G>A (n.2691+23G>A) c.2697+23G>A (n.2697+23G>A) c.2613+23G>A (n.2613+23G>A) c.2541+23G>A (n.2541+23G>A) c.2475+23G>A (n.2475+23G>A) c.1836+23G>A (n.1836+23G>A) c.2454+23G>A (n.2454+23G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801007G>C | CA861214464 | EHMT1 | c.2712+23G>C (n.2712+23G>C) c.2598+23G>C (n.2598+23G>C) c.2619+23G>C (n.2619+23G>C) c.2752+23G>C (n.2752+23G>C) c.606+23G>C (n.606+23G>C) c.390+23G>C (n.390+23G>C) c.1569+23G>C (n.1569+23G>C) c.282+23G>C (n.282+23G>C) c.290+23G>C n.238+23G>C c.2703+23G>C (n.2703+23G>C) c.2694+23G>C (n.2694+23G>C) c.2721+23G>C (n.2721+23G>C) c.2718+23G>C (n.2718+23G>C) c.2700+23G>C (n.2700+23G>C) c.2643+23G>C (n.2643+23G>C) c.2577+23G>C (n.2577+23G>C) c.1143+23G>C (n.1143+23G>C) c.495+23G>C (n.495+23G>C) c.2556+23G>C (n.2556+23G>C) c.2691+23G>C (n.2691+23G>C) c.2697+23G>C (n.2697+23G>C) c.2613+23G>C (n.2613+23G>C) c.2541+23G>C (n.2541+23G>C) c.2475+23G>C (n.2475+23G>C) c.1836+23G>C (n.1836+23G>C) c.2454+23G>C (n.2454+23G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801007G= | CA1884679305 | EHMT1 | c.2712+23G= (n.2712+23G=) c.2598+23G= (n.2598+23G=) c.2619+23G= (n.2619+23G=) c.2752+23G= (n.2752+23G=) c.606+23G= (n.606+23G=) c.390+23G= (n.390+23G=) c.1569+23G= (n.1569+23G=) c.282+23G= (n.282+23G=) c.290+23G= n.238+23G= c.2703+23G= (n.2703+23G=) c.2694+23G= (n.2694+23G=) c.2721+23G= (n.2721+23G=) c.2718+23G= (n.2718+23G=) c.2700+23G= (n.2700+23G=) c.2643+23G= (n.2643+23G=) c.2577+23G= (n.2577+23G=) c.1143+23G= (n.1143+23G=) c.495+23G= (n.495+23G=) c.2556+23G= (n.2556+23G=) c.2691+23G= (n.2691+23G=) c.2697+23G= (n.2697+23G=) c.2613+23G= (n.2613+23G=) c.2541+23G= (n.2541+23G=) c.2475+23G= (n.2475+23G=) c.1836+23G= (n.1836+23G=) c.2454+23G= (n.2454+23G=) | |
9 | g.137801007G>T | CA591249531 | EHMT1 | c.2712+23G>T (n.2712+23G>T) c.2598+23G>T (n.2598+23G>T) c.2619+23G>T (n.2619+23G>T) c.2752+23G>T (n.2752+23G>T) c.606+23G>T (n.606+23G>T) c.390+23G>T (n.390+23G>T) c.1569+23G>T (n.1569+23G>T) c.282+23G>T (n.282+23G>T) c.290+23G>T n.238+23G>T c.2703+23G>T (n.2703+23G>T) c.2694+23G>T (n.2694+23G>T) c.2721+23G>T (n.2721+23G>T) c.2718+23G>T (n.2718+23G>T) c.2700+23G>T (n.2700+23G>T) c.2643+23G>T (n.2643+23G>T) c.2577+23G>T (n.2577+23G>T) c.1143+23G>T (n.1143+23G>T) c.495+23G>T (n.495+23G>T) c.2556+23G>T (n.2556+23G>T) c.2691+23G>T (n.2691+23G>T) c.2697+23G>T (n.2697+23G>T) c.2613+23G>T (n.2613+23G>T) c.2541+23G>T (n.2541+23G>T) c.2475+23G>T (n.2475+23G>T) c.1836+23G>T (n.1836+23G>T) c.2454+23G>T (n.2454+23G>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.137801008G>A | CA5375030 | EHMT1 | c.2712+24G>A (n.2712+24G>A) c.2598+24G>A (n.2598+24G>A) c.2619+24G>A (n.2619+24G>A) c.2752+24G>A (n.2752+24G>A) c.606+24G>A (n.606+24G>A) c.390+24G>A (n.390+24G>A) c.1569+24G>A (n.1569+24G>A) c.282+24G>A (n.282+24G>A) c.290+24G>A n.238+24G>A c.2703+24G>A (n.2703+24G>A) c.2694+24G>A (n.2694+24G>A) c.2721+24G>A (n.2721+24G>A) c.2718+24G>A (n.2718+24G>A) c.2700+24G>A (n.2700+24G>A) c.2643+24G>A (n.2643+24G>A) c.2577+24G>A (n.2577+24G>A) c.1143+24G>A (n.1143+24G>A) c.495+24G>A (n.495+24G>A) c.2556+24G>A (n.2556+24G>A) c.2691+24G>A (n.2691+24G>A) c.2697+24G>A (n.2697+24G>A) c.2613+24G>A (n.2613+24G>A) c.2541+24G>A (n.2541+24G>A) c.2475+24G>A (n.2475+24G>A) c.1836+24G>A (n.1836+24G>A) c.2454+24G>A (n.2454+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801008G= | CA1884679306 | EHMT1 | c.2712+24G= (n.2712+24G=) c.2598+24G= (n.2598+24G=) c.2619+24G= (n.2619+24G=) c.2752+24G= (n.2752+24G=) c.606+24G= (n.606+24G=) c.390+24G= (n.390+24G=) c.1569+24G= (n.1569+24G=) c.282+24G= (n.282+24G=) c.290+24G= n.238+24G= c.2703+24G= (n.2703+24G=) c.2694+24G= (n.2694+24G=) c.2721+24G= (n.2721+24G=) c.2718+24G= (n.2718+24G=) c.2700+24G= (n.2700+24G=) c.2643+24G= (n.2643+24G=) c.2577+24G= (n.2577+24G=) c.1143+24G= (n.1143+24G=) c.495+24G= (n.495+24G=) c.2556+24G= (n.2556+24G=) c.2691+24G= (n.2691+24G=) c.2697+24G= (n.2697+24G=) c.2613+24G= (n.2613+24G=) c.2541+24G= (n.2541+24G=) c.2475+24G= (n.2475+24G=) c.1836+24G= (n.1836+24G=) c.2454+24G= (n.2454+24G=) | |
9 | g.137801011G= | CA1884679307 | EHMT1 | c.2712+27G= (n.2712+27G=) c.2598+27G= (n.2598+27G=) c.2619+27G= (n.2619+27G=) c.2752+27G= (n.2752+27G=) c.606+27G= (n.606+27G=) c.390+27G= (n.390+27G=) c.1569+27G= (n.1569+27G=) c.282+27G= (n.282+27G=) c.290+27G= n.238+27G= c.2703+27G= (n.2703+27G=) c.2694+27G= (n.2694+27G=) c.2721+27G= (n.2721+27G=) c.2718+27G= (n.2718+27G=) c.2700+27G= (n.2700+27G=) c.2643+27G= (n.2643+27G=) c.2577+27G= (n.2577+27G=) c.1143+27G= (n.1143+27G=) c.495+27G= (n.495+27G=) c.2556+27G= (n.2556+27G=) c.2691+27G= (n.2691+27G=) c.2697+27G= (n.2697+27G=) c.2613+27G= (n.2613+27G=) c.2541+27G= (n.2541+27G=) c.2475+27G= (n.2475+27G=) c.1836+27G= (n.1836+27G=) c.2454+27G= (n.2454+27G=) | |
9 | g.137801011G>T | CA201833087 | EHMT1 | c.2712+27G>T (n.2712+27G>T) c.2598+27G>T (n.2598+27G>T) c.2619+27G>T (n.2619+27G>T) c.2752+27G>T (n.2752+27G>T) c.606+27G>T (n.606+27G>T) c.390+27G>T (n.390+27G>T) c.1569+27G>T (n.1569+27G>T) c.282+27G>T (n.282+27G>T) c.290+27G>T n.238+27G>T c.2703+27G>T (n.2703+27G>T) c.2694+27G>T (n.2694+27G>T) c.2721+27G>T (n.2721+27G>T) c.2718+27G>T (n.2718+27G>T) c.2700+27G>T (n.2700+27G>T) c.2643+27G>T (n.2643+27G>T) c.2577+27G>T (n.2577+27G>T) c.1143+27G>T (n.1143+27G>T) c.495+27G>T (n.495+27G>T) c.2556+27G>T (n.2556+27G>T) c.2691+27G>T (n.2691+27G>T) c.2697+27G>T (n.2697+27G>T) c.2613+27G>T (n.2613+27G>T) c.2541+27G>T (n.2541+27G>T) c.2475+27G>T (n.2475+27G>T) c.1836+27G>T (n.1836+27G>T) c.2454+27G>T (n.2454+27G>T) | dbSNP |
9 | g.137801012C= | CA1884679308 | EHMT1 | c.2712+28C= (n.2712+28C=) c.2598+28C= (n.2598+28C=) c.2619+28C= (n.2619+28C=) c.2752+28C= (n.2752+28C=) c.606+28C= (n.606+28C=) c.390+28C= (n.390+28C=) c.1569+28C= (n.1569+28C=) c.282+28C= (n.282+28C=) c.290+28C= n.238+28C= c.2703+28C= (n.2703+28C=) c.2694+28C= (n.2694+28C=) c.2721+28C= (n.2721+28C=) c.2718+28C= (n.2718+28C=) c.2700+28C= (n.2700+28C=) c.2643+28C= (n.2643+28C=) c.2577+28C= (n.2577+28C=) c.1143+28C= (n.1143+28C=) c.495+28C= (n.495+28C=) c.2556+28C= (n.2556+28C=) c.2691+28C= (n.2691+28C=) c.2697+28C= (n.2697+28C=) c.2613+28C= (n.2613+28C=) c.2541+28C= (n.2541+28C=) c.2475+28C= (n.2475+28C=) c.1836+28C= (n.1836+28C=) c.2454+28C= (n.2454+28C=) | |
9 | g.137801012C>T | CA861214474 | EHMT1 | c.2712+28C>T (n.2712+28C>T) c.2598+28C>T (n.2598+28C>T) c.2619+28C>T (n.2619+28C>T) c.2752+28C>T (n.2752+28C>T) c.606+28C>T (n.606+28C>T) c.390+28C>T (n.390+28C>T) c.1569+28C>T (n.1569+28C>T) c.282+28C>T (n.282+28C>T) c.290+28C>T n.238+28C>T c.2703+28C>T (n.2703+28C>T) c.2694+28C>T (n.2694+28C>T) c.2721+28C>T (n.2721+28C>T) c.2718+28C>T (n.2718+28C>T) c.2700+28C>T (n.2700+28C>T) c.2643+28C>T (n.2643+28C>T) c.2577+28C>T (n.2577+28C>T) c.1143+28C>T (n.1143+28C>T) c.495+28C>T (n.495+28C>T) c.2556+28C>T (n.2556+28C>T) c.2691+28C>T (n.2691+28C>T) c.2697+28C>T (n.2697+28C>T) c.2613+28C>T (n.2613+28C>T) c.2541+28C>T (n.2541+28C>T) c.2475+28C>T (n.2475+28C>T) c.1836+28C>T (n.1836+28C>T) c.2454+28C>T (n.2454+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801013C>A | CA1884679309 | EHMT1 | c.2712+29C>A (n.2712+29C>A) c.2598+29C>A (n.2598+29C>A) c.2619+29C>A (n.2619+29C>A) c.2752+29C>A (n.2752+29C>A) c.606+29C>A (n.606+29C>A) c.390+29C>A (n.390+29C>A) c.1569+29C>A (n.1569+29C>A) c.282+29C>A (n.282+29C>A) c.290+29C>A n.238+29C>A c.2703+29C>A (n.2703+29C>A) c.2694+29C>A (n.2694+29C>A) c.2721+29C>A (n.2721+29C>A) c.2718+29C>A (n.2718+29C>A) c.2700+29C>A (n.2700+29C>A) c.2643+29C>A (n.2643+29C>A) c.2577+29C>A (n.2577+29C>A) c.1143+29C>A (n.1143+29C>A) c.495+29C>A (n.495+29C>A) c.2556+29C>A (n.2556+29C>A) c.2691+29C>A (n.2691+29C>A) c.2697+29C>A (n.2697+29C>A) c.2613+29C>A (n.2613+29C>A) c.2541+29C>A (n.2541+29C>A) c.2475+29C>A (n.2475+29C>A) c.1836+29C>A (n.1836+29C>A) c.2454+29C>A (n.2454+29C>A) | dbSNP |
9 | g.137801013C= | CA1884679310 | EHMT1 | c.2712+29C= (n.2712+29C=) c.2598+29C= (n.2598+29C=) c.2619+29C= (n.2619+29C=) c.2752+29C= (n.2752+29C=) c.606+29C= (n.606+29C=) c.390+29C= (n.390+29C=) c.1569+29C= (n.1569+29C=) c.282+29C= (n.282+29C=) c.290+29C= n.238+29C= c.2703+29C= (n.2703+29C=) c.2694+29C= (n.2694+29C=) c.2721+29C= (n.2721+29C=) c.2718+29C= (n.2718+29C=) c.2700+29C= (n.2700+29C=) c.2643+29C= (n.2643+29C=) c.2577+29C= (n.2577+29C=) c.1143+29C= (n.1143+29C=) c.495+29C= (n.495+29C=) c.2556+29C= (n.2556+29C=) c.2691+29C= (n.2691+29C=) c.2697+29C= (n.2697+29C=) c.2613+29C= (n.2613+29C=) c.2541+29C= (n.2541+29C=) c.2475+29C= (n.2475+29C=) c.1836+29C= (n.1836+29C=) c.2454+29C= (n.2454+29C=) | |
9 | g.137801013C>T | CA5375031 | EHMT1 | c.2712+29C>T (n.2712+29C>T) c.2598+29C>T (n.2598+29C>T) c.2619+29C>T (n.2619+29C>T) c.2752+29C>T (n.2752+29C>T) c.606+29C>T (n.606+29C>T) c.390+29C>T (n.390+29C>T) c.1569+29C>T (n.1569+29C>T) c.282+29C>T (n.282+29C>T) c.290+29C>T n.238+29C>T c.2703+29C>T (n.2703+29C>T) c.2694+29C>T (n.2694+29C>T) c.2721+29C>T (n.2721+29C>T) c.2718+29C>T (n.2718+29C>T) c.2700+29C>T (n.2700+29C>T) c.2643+29C>T (n.2643+29C>T) c.2577+29C>T (n.2577+29C>T) c.1143+29C>T (n.1143+29C>T) c.495+29C>T (n.495+29C>T) c.2556+29C>T (n.2556+29C>T) c.2691+29C>T (n.2691+29C>T) c.2697+29C>T (n.2697+29C>T) c.2613+29C>T (n.2613+29C>T) c.2541+29C>T (n.2541+29C>T) c.2475+29C>T (n.2475+29C>T) c.1836+29C>T (n.1836+29C>T) c.2454+29C>T (n.2454+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801014G>A | CA5375033 | EHMT1 | c.2712+30G>A (n.2712+30G>A) c.2598+30G>A (n.2598+30G>A) c.2619+30G>A (n.2619+30G>A) c.2752+30G>A (n.2752+30G>A) c.606+30G>A (n.606+30G>A) c.390+30G>A (n.390+30G>A) c.1569+30G>A (n.1569+30G>A) c.282+30G>A (n.282+30G>A) c.290+30G>A n.238+30G>A c.2703+30G>A (n.2703+30G>A) c.2694+30G>A (n.2694+30G>A) c.2721+30G>A (n.2721+30G>A) c.2718+30G>A (n.2718+30G>A) c.2700+30G>A (n.2700+30G>A) c.2643+30G>A (n.2643+30G>A) c.2577+30G>A (n.2577+30G>A) c.1143+30G>A (n.1143+30G>A) c.495+30G>A (n.495+30G>A) c.2556+30G>A (n.2556+30G>A) c.2691+30G>A (n.2691+30G>A) c.2697+30G>A (n.2697+30G>A) c.2613+30G>A (n.2613+30G>A) c.2541+30G>A (n.2541+30G>A) c.2475+30G>A (n.2475+30G>A) c.1836+30G>A (n.1836+30G>A) c.2454+30G>A (n.2454+30G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801014G>C | CA5375032 | EHMT1 | c.2712+30G>C (n.2712+30G>C) c.2598+30G>C (n.2598+30G>C) c.2619+30G>C (n.2619+30G>C) c.2752+30G>C (n.2752+30G>C) c.606+30G>C (n.606+30G>C) c.390+30G>C (n.390+30G>C) c.1569+30G>C (n.1569+30G>C) c.282+30G>C (n.282+30G>C) c.290+30G>C n.238+30G>C c.2703+30G>C (n.2703+30G>C) c.2694+30G>C (n.2694+30G>C) c.2721+30G>C (n.2721+30G>C) c.2718+30G>C (n.2718+30G>C) c.2700+30G>C (n.2700+30G>C) c.2643+30G>C (n.2643+30G>C) c.2577+30G>C (n.2577+30G>C) c.1143+30G>C (n.1143+30G>C) c.495+30G>C (n.495+30G>C) c.2556+30G>C (n.2556+30G>C) c.2691+30G>C (n.2691+30G>C) c.2697+30G>C (n.2697+30G>C) c.2613+30G>C (n.2613+30G>C) c.2541+30G>C (n.2541+30G>C) c.2475+30G>C (n.2475+30G>C) c.1836+30G>C (n.1836+30G>C) c.2454+30G>C (n.2454+30G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801014G= | CA1884679311 | EHMT1 | c.2712+30G= (n.2712+30G=) c.2598+30G= (n.2598+30G=) c.2619+30G= (n.2619+30G=) c.2752+30G= (n.2752+30G=) c.606+30G= (n.606+30G=) c.390+30G= (n.390+30G=) c.1569+30G= (n.1569+30G=) c.282+30G= (n.282+30G=) c.290+30G= n.238+30G= c.2703+30G= (n.2703+30G=) c.2694+30G= (n.2694+30G=) c.2721+30G= (n.2721+30G=) c.2718+30G= (n.2718+30G=) c.2700+30G= (n.2700+30G=) c.2643+30G= (n.2643+30G=) c.2577+30G= (n.2577+30G=) c.1143+30G= (n.1143+30G=) c.495+30G= (n.495+30G=) c.2556+30G= (n.2556+30G=) c.2691+30G= (n.2691+30G=) c.2697+30G= (n.2697+30G=) c.2613+30G= (n.2613+30G=) c.2541+30G= (n.2541+30G=) c.2475+30G= (n.2475+30G=) c.1836+30G= (n.1836+30G=) c.2454+30G= (n.2454+30G=) | |
9 | g.137801014G>T | CA5375034 | EHMT1 | c.2712+30G>T (n.2712+30G>T) c.2598+30G>T (n.2598+30G>T) c.2619+30G>T (n.2619+30G>T) c.2752+30G>T (n.2752+30G>T) c.606+30G>T (n.606+30G>T) c.390+30G>T (n.390+30G>T) c.1569+30G>T (n.1569+30G>T) c.282+30G>T (n.282+30G>T) c.290+30G>T n.238+30G>T c.2703+30G>T (n.2703+30G>T) c.2694+30G>T (n.2694+30G>T) c.2721+30G>T (n.2721+30G>T) c.2718+30G>T (n.2718+30G>T) c.2700+30G>T (n.2700+30G>T) c.2643+30G>T (n.2643+30G>T) c.2577+30G>T (n.2577+30G>T) c.1143+30G>T (n.1143+30G>T) c.495+30G>T (n.495+30G>T) c.2556+30G>T (n.2556+30G>T) c.2691+30G>T (n.2691+30G>T) c.2697+30G>T (n.2697+30G>T) c.2613+30G>T (n.2613+30G>T) c.2541+30G>T (n.2541+30G>T) c.2475+30G>T (n.2475+30G>T) c.1836+30G>T (n.1836+30G>T) c.2454+30G>T (n.2454+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137801017T>C | CA2579536395 | EHMT1 | c.2712+33T>C (n.2712+33T>C) c.2598+33T>C (n.2598+33T>C) c.2619+33T>C (n.2619+33T>C) c.2752+33T>C (n.2752+33T>C) c.606+33T>C (n.606+33T>C) c.390+33T>C (n.390+33T>C) c.1569+33T>C (n.1569+33T>C) c.282+33T>C (n.282+33T>C) c.290+33T>C n.238+33T>C c.2703+33T>C (n.2703+33T>C) c.2694+33T>C (n.2694+33T>C) c.2721+33T>C (n.2721+33T>C) c.2718+33T>C (n.2718+33T>C) c.2700+33T>C (n.2700+33T>C) c.2643+33T>C (n.2643+33T>C) c.2577+33T>C (n.2577+33T>C) c.1143+33T>C (n.1143+33T>C) c.495+33T>C (n.495+33T>C) c.2556+33T>C (n.2556+33T>C) c.2691+33T>C (n.2691+33T>C) c.2697+33T>C (n.2697+33T>C) c.2613+33T>C (n.2613+33T>C) c.2541+33T>C (n.2541+33T>C) c.2475+33T>C (n.2475+33T>C) c.1836+33T>C (n.1836+33T>C) c.2454+33T>C (n.2454+33T>C) | |
9 | g.137801018C= | CA1884679312 | EHMT1 | c.2712+34C= (n.2712+34C=) c.2598+34C= (n.2598+34C=) c.2619+34C= (n.2619+34C=) c.2752+34C= (n.2752+34C=) c.606+34C= (n.606+34C=) c.390+34C= (n.390+34C=) c.1569+34C= (n.1569+34C=) c.282+34C= (n.282+34C=) c.290+34C= n.238+34C= c.2703+34C= (n.2703+34C=) c.2694+34C= (n.2694+34C=) c.2721+34C= (n.2721+34C=) c.2718+34C= (n.2718+34C=) c.2700+34C= (n.2700+34C=) c.2643+34C= (n.2643+34C=) c.2577+34C= (n.2577+34C=) c.1143+34C= (n.1143+34C=) c.495+34C= (n.495+34C=) c.2556+34C= (n.2556+34C=) c.2691+34C= (n.2691+34C=) c.2697+34C= (n.2697+34C=) c.2613+34C= (n.2613+34C=) c.2541+34C= (n.2541+34C=) c.2475+34C= (n.2475+34C=) c.1836+34C= (n.1836+34C=) c.2454+34C= (n.2454+34C=) | |
9 | g.137801018C>G | CA5375035 | EHMT1 | c.2712+34C>G (n.2712+34C>G) c.2598+34C>G (n.2598+34C>G) c.2619+34C>G (n.2619+34C>G) c.2752+34C>G (n.2752+34C>G) c.606+34C>G (n.606+34C>G) c.390+34C>G (n.390+34C>G) c.1569+34C>G (n.1569+34C>G) c.282+34C>G (n.282+34C>G) c.290+34C>G n.238+34C>G c.2703+34C>G (n.2703+34C>G) c.2694+34C>G (n.2694+34C>G) c.2721+34C>G (n.2721+34C>G) c.2718+34C>G (n.2718+34C>G) c.2700+34C>G (n.2700+34C>G) c.2643+34C>G (n.2643+34C>G) c.2577+34C>G (n.2577+34C>G) c.1143+34C>G (n.1143+34C>G) c.495+34C>G (n.495+34C>G) c.2556+34C>G (n.2556+34C>G) c.2691+34C>G (n.2691+34C>G) c.2697+34C>G (n.2697+34C>G) c.2613+34C>G (n.2613+34C>G) c.2541+34C>G (n.2541+34C>G) c.2475+34C>G (n.2475+34C>G) c.1836+34C>G (n.1836+34C>G) c.2454+34C>G (n.2454+34C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.137801018C>T | CA1884679313 | EHMT1 | c.2712+34C>T (n.2712+34C>T) c.2598+34C>T (n.2598+34C>T) c.2619+34C>T (n.2619+34C>T) c.2752+34C>T (n.2752+34C>T) c.606+34C>T (n.606+34C>T) c.390+34C>T (n.390+34C>T) c.1569+34C>T (n.1569+34C>T) c.282+34C>T (n.282+34C>T) c.290+34C>T n.238+34C>T c.2703+34C>T (n.2703+34C>T) c.2694+34C>T (n.2694+34C>T) c.2721+34C>T (n.2721+34C>T) c.2718+34C>T (n.2718+34C>T) c.2700+34C>T (n.2700+34C>T) c.2643+34C>T (n.2643+34C>T) c.2577+34C>T (n.2577+34C>T) c.1143+34C>T (n.1143+34C>T) c.495+34C>T (n.495+34C>T) c.2556+34C>T (n.2556+34C>T) c.2691+34C>T (n.2691+34C>T) c.2697+34C>T (n.2697+34C>T) c.2613+34C>T (n.2613+34C>T) c.2541+34C>T (n.2541+34C>T) c.2475+34C>T (n.2475+34C>T) c.1836+34C>T (n.1836+34C>T) c.2454+34C>T (n.2454+34C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801019C>A | CA2533654838 | EHMT1 | c.2712+35C>A (n.2712+35C>A) c.2598+35C>A (n.2598+35C>A) c.2619+35C>A (n.2619+35C>A) c.2752+35C>A (n.2752+35C>A) c.606+35C>A (n.606+35C>A) c.390+35C>A (n.390+35C>A) c.1569+35C>A (n.1569+35C>A) c.282+35C>A (n.282+35C>A) c.290+35C>A n.238+35C>A c.2703+35C>A (n.2703+35C>A) c.2694+35C>A (n.2694+35C>A) c.2721+35C>A (n.2721+35C>A) c.2718+35C>A (n.2718+35C>A) c.2700+35C>A (n.2700+35C>A) c.2643+35C>A (n.2643+35C>A) c.2577+35C>A (n.2577+35C>A) c.1143+35C>A (n.1143+35C>A) c.495+35C>A (n.495+35C>A) c.2556+35C>A (n.2556+35C>A) c.2691+35C>A (n.2691+35C>A) c.2697+35C>A (n.2697+35C>A) c.2613+35C>A (n.2613+35C>A) c.2541+35C>A (n.2541+35C>A) c.2475+35C>A (n.2475+35C>A) c.1836+35C>A (n.1836+35C>A) c.2454+35C>A (n.2454+35C>A) | |
9 | g.137801020T>C | CA2692889267 | EHMT1 | c.2712+36T>C (n.2712+36T>C) c.2598+36T>C (n.2598+36T>C) c.2619+36T>C (n.2619+36T>C) c.2752+36T>C (n.2752+36T>C) c.606+36T>C (n.606+36T>C) c.390+36T>C (n.390+36T>C) c.1569+36T>C (n.1569+36T>C) c.282+36T>C (n.282+36T>C) c.290+36T>C n.238+36T>C c.2703+36T>C (n.2703+36T>C) c.2694+36T>C (n.2694+36T>C) c.2721+36T>C (n.2721+36T>C) c.2718+36T>C (n.2718+36T>C) c.2700+36T>C (n.2700+36T>C) c.2643+36T>C (n.2643+36T>C) c.2577+36T>C (n.2577+36T>C) c.1143+36T>C (n.1143+36T>C) c.495+36T>C (n.495+36T>C) c.2556+36T>C (n.2556+36T>C) c.2691+36T>C (n.2691+36T>C) c.2697+36T>C (n.2697+36T>C) c.2613+36T>C (n.2613+36T>C) c.2541+36T>C (n.2541+36T>C) c.2475+36T>C (n.2475+36T>C) c.1836+36T>C (n.1836+36T>C) c.2454+36T>C (n.2454+36T>C) | gnomAD v4 |
9 | g.137801021G>A | CA5375036 | EHMT1 | c.2712+37G>A (n.2712+37G>A) c.2598+37G>A (n.2598+37G>A) c.2619+37G>A (n.2619+37G>A) c.2752+37G>A (n.2752+37G>A) c.606+37G>A (n.606+37G>A) c.390+37G>A (n.390+37G>A) c.1569+37G>A (n.1569+37G>A) c.282+37G>A (n.282+37G>A) c.290+37G>A n.238+37G>A c.2703+37G>A (n.2703+37G>A) c.2694+37G>A (n.2694+37G>A) c.2721+37G>A (n.2721+37G>A) c.2718+37G>A (n.2718+37G>A) c.2700+37G>A (n.2700+37G>A) c.2643+37G>A (n.2643+37G>A) c.2577+37G>A (n.2577+37G>A) c.1143+37G>A (n.1143+37G>A) c.495+37G>A (n.495+37G>A) c.2556+37G>A (n.2556+37G>A) c.2691+37G>A (n.2691+37G>A) c.2697+37G>A (n.2697+37G>A) c.2613+37G>A (n.2613+37G>A) c.2541+37G>A (n.2541+37G>A) c.2475+37G>A (n.2475+37G>A) c.1836+37G>A (n.1836+37G>A) c.2454+37G>A (n.2454+37G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801021G= | CA1884679314 | EHMT1 | c.2712+37G= (n.2712+37G=) c.2598+37G= (n.2598+37G=) c.2619+37G= (n.2619+37G=) c.2752+37G= (n.2752+37G=) c.606+37G= (n.606+37G=) c.390+37G= (n.390+37G=) c.1569+37G= (n.1569+37G=) c.282+37G= (n.282+37G=) c.290+37G= n.238+37G= c.2703+37G= (n.2703+37G=) c.2694+37G= (n.2694+37G=) c.2721+37G= (n.2721+37G=) c.2718+37G= (n.2718+37G=) c.2700+37G= (n.2700+37G=) c.2643+37G= (n.2643+37G=) c.2577+37G= (n.2577+37G=) c.1143+37G= (n.1143+37G=) c.495+37G= (n.495+37G=) c.2556+37G= (n.2556+37G=) c.2691+37G= (n.2691+37G=) c.2697+37G= (n.2697+37G=) c.2613+37G= (n.2613+37G=) c.2541+37G= (n.2541+37G=) c.2475+37G= (n.2475+37G=) c.1836+37G= (n.1836+37G=) c.2454+37G= (n.2454+37G=) | |
9 | g.137801021G>T | CA2786319199 | EHMT1 | c.2712+37G>T (n.2712+37G>T) c.2598+37G>T (n.2598+37G>T) c.2619+37G>T (n.2619+37G>T) c.2752+37G>T (n.2752+37G>T) c.606+37G>T (n.606+37G>T) c.390+37G>T (n.390+37G>T) c.1569+37G>T (n.1569+37G>T) c.282+37G>T (n.282+37G>T) c.290+37G>T n.238+37G>T c.2703+37G>T (n.2703+37G>T) c.2694+37G>T (n.2694+37G>T) c.2721+37G>T (n.2721+37G>T) c.2718+37G>T (n.2718+37G>T) c.2700+37G>T (n.2700+37G>T) c.2643+37G>T (n.2643+37G>T) c.2577+37G>T (n.2577+37G>T) c.1143+37G>T (n.1143+37G>T) c.495+37G>T (n.495+37G>T) c.2556+37G>T (n.2556+37G>T) c.2691+37G>T (n.2691+37G>T) c.2697+37G>T (n.2697+37G>T) c.2613+37G>T (n.2613+37G>T) c.2541+37G>T (n.2541+37G>T) c.2475+37G>T (n.2475+37G>T) c.1836+37G>T (n.1836+37G>T) c.2454+37G>T (n.2454+37G>T) | |
9 | g.137801022G>C | CA591249534 | EHMT1 | c.2712+38G>C (n.2712+38G>C) c.2598+38G>C (n.2598+38G>C) c.2619+38G>C (n.2619+38G>C) c.2752+38G>C (n.2752+38G>C) c.606+38G>C (n.606+38G>C) c.390+38G>C (n.390+38G>C) c.1569+38G>C (n.1569+38G>C) c.282+38G>C (n.282+38G>C) c.290+38G>C n.238+38G>C c.2703+38G>C (n.2703+38G>C) c.2694+38G>C (n.2694+38G>C) c.2721+38G>C (n.2721+38G>C) c.2718+38G>C (n.2718+38G>C) c.2700+38G>C (n.2700+38G>C) c.2643+38G>C (n.2643+38G>C) c.2577+38G>C (n.2577+38G>C) c.1143+38G>C (n.1143+38G>C) c.495+38G>C (n.495+38G>C) c.2556+38G>C (n.2556+38G>C) c.2691+38G>C (n.2691+38G>C) c.2697+38G>C (n.2697+38G>C) c.2613+38G>C (n.2613+38G>C) c.2541+38G>C (n.2541+38G>C) c.2475+38G>C (n.2475+38G>C) c.1836+38G>C (n.1836+38G>C) c.2454+38G>C (n.2454+38G>C) | dbSNP gnomAD v2 |
9 | g.137801022G= | CA1884679315 | EHMT1 | c.2712+38G= (n.2712+38G=) c.2598+38G= (n.2598+38G=) c.2619+38G= (n.2619+38G=) c.2752+38G= (n.2752+38G=) c.606+38G= (n.606+38G=) c.390+38G= (n.390+38G=) c.1569+38G= (n.1569+38G=) c.282+38G= (n.282+38G=) c.290+38G= n.238+38G= c.2703+38G= (n.2703+38G=) c.2694+38G= (n.2694+38G=) c.2721+38G= (n.2721+38G=) c.2718+38G= (n.2718+38G=) c.2700+38G= (n.2700+38G=) c.2643+38G= (n.2643+38G=) c.2577+38G= (n.2577+38G=) c.1143+38G= (n.1143+38G=) c.495+38G= (n.495+38G=) c.2556+38G= (n.2556+38G=) c.2691+38G= (n.2691+38G=) c.2697+38G= (n.2697+38G=) c.2613+38G= (n.2613+38G=) c.2541+38G= (n.2541+38G=) c.2475+38G= (n.2475+38G=) c.1836+38G= (n.1836+38G=) c.2454+38G= (n.2454+38G=) | |
9 | g.137801024G>A | CA5375037 | EHMT1 | c.2712+40G>A (n.2712+40G>A) c.2598+40G>A (n.2598+40G>A) c.2619+40G>A (n.2619+40G>A) c.2752+40G>A (n.2752+40G>A) c.606+40G>A (n.606+40G>A) c.390+40G>A (n.390+40G>A) c.1569+40G>A (n.1569+40G>A) c.282+40G>A (n.282+40G>A) c.290+40G>A n.238+40G>A c.2703+40G>A (n.2703+40G>A) c.2694+40G>A (n.2694+40G>A) c.2721+40G>A (n.2721+40G>A) c.2718+40G>A (n.2718+40G>A) c.2700+40G>A (n.2700+40G>A) c.2643+40G>A (n.2643+40G>A) c.2577+40G>A (n.2577+40G>A) c.1143+40G>A (n.1143+40G>A) c.495+40G>A (n.495+40G>A) c.2556+40G>A (n.2556+40G>A) c.2691+40G>A (n.2691+40G>A) c.2697+40G>A (n.2697+40G>A) c.2613+40G>A (n.2613+40G>A) c.2541+40G>A (n.2541+40G>A) c.2475+40G>A (n.2475+40G>A) c.1836+40G>A (n.1836+40G>A) c.2454+40G>A (n.2454+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801024G>C | CA5375038 | EHMT1 | c.2712+40G>C (n.2712+40G>C) c.2598+40G>C (n.2598+40G>C) c.2619+40G>C (n.2619+40G>C) c.2752+40G>C (n.2752+40G>C) c.606+40G>C (n.606+40G>C) c.390+40G>C (n.390+40G>C) c.1569+40G>C (n.1569+40G>C) c.282+40G>C (n.282+40G>C) c.290+40G>C n.238+40G>C c.2703+40G>C (n.2703+40G>C) c.2694+40G>C (n.2694+40G>C) c.2721+40G>C (n.2721+40G>C) c.2718+40G>C (n.2718+40G>C) c.2700+40G>C (n.2700+40G>C) c.2643+40G>C (n.2643+40G>C) c.2577+40G>C (n.2577+40G>C) c.1143+40G>C (n.1143+40G>C) c.495+40G>C (n.495+40G>C) c.2556+40G>C (n.2556+40G>C) c.2691+40G>C (n.2691+40G>C) c.2697+40G>C (n.2697+40G>C) c.2613+40G>C (n.2613+40G>C) c.2541+40G>C (n.2541+40G>C) c.2475+40G>C (n.2475+40G>C) c.1836+40G>C (n.1836+40G>C) c.2454+40G>C (n.2454+40G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801024G= | CA1884679316 | EHMT1 | c.2712+40G= (n.2712+40G=) c.2598+40G= (n.2598+40G=) c.2619+40G= (n.2619+40G=) c.2752+40G= (n.2752+40G=) c.606+40G= (n.606+40G=) c.390+40G= (n.390+40G=) c.1569+40G= (n.1569+40G=) c.282+40G= (n.282+40G=) c.290+40G= n.238+40G= c.2703+40G= (n.2703+40G=) c.2694+40G= (n.2694+40G=) c.2721+40G= (n.2721+40G=) c.2718+40G= (n.2718+40G=) c.2700+40G= (n.2700+40G=) c.2643+40G= (n.2643+40G=) c.2577+40G= (n.2577+40G=) c.1143+40G= (n.1143+40G=) c.495+40G= (n.495+40G=) c.2556+40G= (n.2556+40G=) c.2691+40G= (n.2691+40G=) c.2697+40G= (n.2697+40G=) c.2613+40G= (n.2613+40G=) c.2541+40G= (n.2541+40G=) c.2475+40G= (n.2475+40G=) c.1836+40G= (n.1836+40G=) c.2454+40G= (n.2454+40G=) | |
9 | g.137801025G>A | CA5375039 | EHMT1 | c.2712+41G>A (n.2712+41G>A) c.2598+41G>A (n.2598+41G>A) c.2619+41G>A (n.2619+41G>A) c.2752+41G>A (n.2752+41G>A) c.606+41G>A (n.606+41G>A) c.390+41G>A (n.390+41G>A) c.1569+41G>A (n.1569+41G>A) c.282+41G>A (n.282+41G>A) c.290+41G>A n.238+41G>A c.2703+41G>A (n.2703+41G>A) c.2694+41G>A (n.2694+41G>A) c.2721+41G>A (n.2721+41G>A) c.2718+41G>A (n.2718+41G>A) c.2700+41G>A (n.2700+41G>A) c.2643+41G>A (n.2643+41G>A) c.2577+41G>A (n.2577+41G>A) c.1143+41G>A (n.1143+41G>A) c.495+41G>A (n.495+41G>A) c.2556+41G>A (n.2556+41G>A) c.2691+41G>A (n.2691+41G>A) c.2697+41G>A (n.2697+41G>A) c.2613+41G>A (n.2613+41G>A) c.2541+41G>A (n.2541+41G>A) c.2475+41G>A (n.2475+41G>A) c.1836+41G>A (n.1836+41G>A) c.2454+41G>A (n.2454+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801025G= | CA1884679318 | EHMT1 | c.2712+41G= (n.2712+41G=) c.2598+41G= (n.2598+41G=) c.2619+41G= (n.2619+41G=) c.2752+41G= (n.2752+41G=) c.606+41G= (n.606+41G=) c.390+41G= (n.390+41G=) c.1569+41G= (n.1569+41G=) c.282+41G= (n.282+41G=) c.290+41G= n.238+41G= c.2703+41G= (n.2703+41G=) c.2694+41G= (n.2694+41G=) c.2721+41G= (n.2721+41G=) c.2718+41G= (n.2718+41G=) c.2700+41G= (n.2700+41G=) c.2643+41G= (n.2643+41G=) c.2577+41G= (n.2577+41G=) c.1143+41G= (n.1143+41G=) c.495+41G= (n.495+41G=) c.2556+41G= (n.2556+41G=) c.2691+41G= (n.2691+41G=) c.2697+41G= (n.2697+41G=) c.2613+41G= (n.2613+41G=) c.2541+41G= (n.2541+41G=) c.2475+41G= (n.2475+41G=) c.1836+41G= (n.1836+41G=) c.2454+41G= (n.2454+41G=) | |
9 | g.137801025G>T | CA1884679317 | EHMT1 | c.2712+41G>T (n.2712+41G>T) c.2598+41G>T (n.2598+41G>T) c.2619+41G>T (n.2619+41G>T) c.2752+41G>T (n.2752+41G>T) c.606+41G>T (n.606+41G>T) c.390+41G>T (n.390+41G>T) c.1569+41G>T (n.1569+41G>T) c.282+41G>T (n.282+41G>T) c.290+41G>T n.238+41G>T c.2703+41G>T (n.2703+41G>T) c.2694+41G>T (n.2694+41G>T) c.2721+41G>T (n.2721+41G>T) c.2718+41G>T (n.2718+41G>T) c.2700+41G>T (n.2700+41G>T) c.2643+41G>T (n.2643+41G>T) c.2577+41G>T (n.2577+41G>T) c.1143+41G>T (n.1143+41G>T) c.495+41G>T (n.495+41G>T) c.2556+41G>T (n.2556+41G>T) c.2691+41G>T (n.2691+41G>T) c.2697+41G>T (n.2697+41G>T) c.2613+41G>T (n.2613+41G>T) c.2541+41G>T (n.2541+41G>T) c.2475+41G>T (n.2475+41G>T) c.1836+41G>T (n.1836+41G>T) c.2454+41G>T (n.2454+41G>T) | dbSNP |
9 | g.137801025_137801026insTCCCCACCCCTCCA | CA2692889268 | EHMT1 | c.2712+41_2712+42insTCCCCACCCCTCCA (n.2712+41_2712+42insTCCCCACCCCTCCA) c.2598+41_2598+42insTCCCCACCCCTCCA (n.2598+41_2598+42insTCCCCACCCCTCCA) c.2619+41_2619+42insTCCCCACCCCTCCA (n.2619+41_2619+42insTCCCCACCCCTCCA) c.2752+41_2752+42insTCCCCACCCCTCCA (n.2752+41_2752+42insTCCCCACCCCTCCA) c.606+41_606+42insTCCCCACCCCTCCA (n.606+41_606+42insTCCCCACCCCTCCA) c.390+41_390+42insTCCCCACCCCTCCA (n.390+41_390+42insTCCCCACCCCTCCA) c.1569+41_1569+42insTCCCCACCCCTCCA (n.1569+41_1569+42insTCCCCACCCCTCCA) c.282+41_282+42insTCCCCACCCCTCCA (n.282+41_282+42insTCCCCACCCCTCCA) c.290+41_290+42insTCCCCACCCCTCCA n.238+41_238+42insTCCCCACCCCTCCA c.2703+41_2703+42insTCCCCACCCCTCCA (n.2703+41_2703+42insTCCCCACCCCTCCA) c.2694+41_2694+42insTCCCCACCCCTCCA (n.2694+41_2694+42insTCCCCACCCCTCCA) c.2721+41_2721+42insTCCCCACCCCTCCA (n.2721+41_2721+42insTCCCCACCCCTCCA) c.2718+41_2718+42insTCCCCACCCCTCCA (n.2718+41_2718+42insTCCCCACCCCTCCA) c.2700+41_2700+42insTCCCCACCCCTCCA (n.2700+41_2700+42insTCCCCACCCCTCCA) c.2643+41_2643+42insTCCCCACCCCTCCA (n.2643+41_2643+42insTCCCCACCCCTCCA) c.2577+41_2577+42insTCCCCACCCCTCCA (n.2577+41_2577+42insTCCCCACCCCTCCA) c.1143+41_1143+42insTCCCCACCCCTCCA (n.1143+41_1143+42insTCCCCACCCCTCCA) c.495+41_495+42insTCCCCACCCCTCCA (n.495+41_495+42insTCCCCACCCCTCCA) c.2556+41_2556+42insTCCCCACCCCTCCA (n.2556+41_2556+42insTCCCCACCCCTCCA) c.2691+41_2691+42insTCCCCACCCCTCCA (n.2691+41_2691+42insTCCCCACCCCTCCA) c.2697+41_2697+42insTCCCCACCCCTCCA (n.2697+41_2697+42insTCCCCACCCCTCCA) c.2613+41_2613+42insTCCCCACCCCTCCA (n.2613+41_2613+42insTCCCCACCCCTCCA) c.2541+41_2541+42insTCCCCACCCCTCCA (n.2541+41_2541+42insTCCCCACCCCTCCA) c.2475+41_2475+42insTCCCCACCCCTCCA (n.2475+41_2475+42insTCCCCACCCCTCCA) c.1836+41_1836+42insTCCCCACCCCTCCA (n.1836+41_1836+42insTCCCCACCCCTCCA) c.2454+41_2454+42insTCCCCACCCCTCCA (n.2454+41_2454+42insTCCCCACCCCTCCA) | gnomAD v4 |
9 | g.137801026G>A | CA1130155585 | EHMT1 | c.2712+42G>A (n.2712+42G>A) c.2598+42G>A (n.2598+42G>A) c.2619+42G>A (n.2619+42G>A) c.2752+42G>A (n.2752+42G>A) c.606+42G>A (n.606+42G>A) c.390+42G>A (n.390+42G>A) c.1569+42G>A (n.1569+42G>A) c.282+42G>A (n.282+42G>A) c.290+42G>A n.238+42G>A c.2703+42G>A (n.2703+42G>A) c.2694+42G>A (n.2694+42G>A) c.2721+42G>A (n.2721+42G>A) c.2718+42G>A (n.2718+42G>A) c.2700+42G>A (n.2700+42G>A) c.2643+42G>A (n.2643+42G>A) c.2577+42G>A (n.2577+42G>A) c.1143+42G>A (n.1143+42G>A) c.495+42G>A (n.495+42G>A) c.2556+42G>A (n.2556+42G>A) c.2691+42G>A (n.2691+42G>A) c.2697+42G>A (n.2697+42G>A) c.2613+42G>A (n.2613+42G>A) c.2541+42G>A (n.2541+42G>A) c.2475+42G>A (n.2475+42G>A) c.1836+42G>A (n.1836+42G>A) c.2454+42G>A (n.2454+42G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801026G= | CA1884679319 | EHMT1 | c.2712+42G= (n.2712+42G=) c.2598+42G= (n.2598+42G=) c.2619+42G= (n.2619+42G=) c.2752+42G= (n.2752+42G=) c.606+42G= (n.606+42G=) c.390+42G= (n.390+42G=) c.1569+42G= (n.1569+42G=) c.282+42G= (n.282+42G=) c.290+42G= n.238+42G= c.2703+42G= (n.2703+42G=) c.2694+42G= (n.2694+42G=) c.2721+42G= (n.2721+42G=) c.2718+42G= (n.2718+42G=) c.2700+42G= (n.2700+42G=) c.2643+42G= (n.2643+42G=) c.2577+42G= (n.2577+42G=) c.1143+42G= (n.1143+42G=) c.495+42G= (n.495+42G=) c.2556+42G= (n.2556+42G=) c.2691+42G= (n.2691+42G=) c.2697+42G= (n.2697+42G=) c.2613+42G= (n.2613+42G=) c.2541+42G= (n.2541+42G=) c.2475+42G= (n.2475+42G=) c.1836+42G= (n.1836+42G=) c.2454+42G= (n.2454+42G=) | |
9 | g.137801026G>T | CA5375040 | EHMT1 | c.2712+42G>T (n.2712+42G>T) c.2598+42G>T (n.2598+42G>T) c.2619+42G>T (n.2619+42G>T) c.2752+42G>T (n.2752+42G>T) c.606+42G>T (n.606+42G>T) c.390+42G>T (n.390+42G>T) c.1569+42G>T (n.1569+42G>T) c.282+42G>T (n.282+42G>T) c.290+42G>T n.238+42G>T c.2703+42G>T (n.2703+42G>T) c.2694+42G>T (n.2694+42G>T) c.2721+42G>T (n.2721+42G>T) c.2718+42G>T (n.2718+42G>T) c.2700+42G>T (n.2700+42G>T) c.2643+42G>T (n.2643+42G>T) c.2577+42G>T (n.2577+42G>T) c.1143+42G>T (n.1143+42G>T) c.495+42G>T (n.495+42G>T) c.2556+42G>T (n.2556+42G>T) c.2691+42G>T (n.2691+42G>T) c.2697+42G>T (n.2697+42G>T) c.2613+42G>T (n.2613+42G>T) c.2541+42G>T (n.2541+42G>T) c.2475+42G>T (n.2475+42G>T) c.1836+42G>T (n.1836+42G>T) c.2454+42G>T (n.2454+42G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137801027G>T | CA2579536396 | EHMT1 | c.2712+43G>T (n.2712+43G>T) c.2598+43G>T (n.2598+43G>T) c.2619+43G>T (n.2619+43G>T) c.2752+43G>T (n.2752+43G>T) c.606+43G>T (n.606+43G>T) c.390+43G>T (n.390+43G>T) c.1569+43G>T (n.1569+43G>T) c.282+43G>T (n.282+43G>T) c.290+43G>T n.238+43G>T c.2703+43G>T (n.2703+43G>T) c.2694+43G>T (n.2694+43G>T) c.2721+43G>T (n.2721+43G>T) c.2718+43G>T (n.2718+43G>T) c.2700+43G>T (n.2700+43G>T) c.2643+43G>T (n.2643+43G>T) c.2577+43G>T (n.2577+43G>T) c.1143+43G>T (n.1143+43G>T) c.495+43G>T (n.495+43G>T) c.2556+43G>T (n.2556+43G>T) c.2691+43G>T (n.2691+43G>T) c.2697+43G>T (n.2697+43G>T) c.2613+43G>T (n.2613+43G>T) c.2541+43G>T (n.2541+43G>T) c.2475+43G>T (n.2475+43G>T) c.1836+43G>T (n.1836+43G>T) c.2454+43G>T (n.2454+43G>T) | |
9 | g.137801028T>A | CA2692889269 | EHMT1 | c.2712+44T>A (n.2712+44T>A) c.2598+44T>A (n.2598+44T>A) c.2619+44T>A (n.2619+44T>A) c.2752+44T>A (n.2752+44T>A) c.606+44T>A (n.606+44T>A) c.390+44T>A (n.390+44T>A) c.1569+44T>A (n.1569+44T>A) c.282+44T>A (n.282+44T>A) c.290+44T>A n.238+44T>A c.2703+44T>A (n.2703+44T>A) c.2694+44T>A (n.2694+44T>A) c.2721+44T>A (n.2721+44T>A) c.2718+44T>A (n.2718+44T>A) c.2700+44T>A (n.2700+44T>A) c.2643+44T>A (n.2643+44T>A) c.2577+44T>A (n.2577+44T>A) c.1143+44T>A (n.1143+44T>A) c.495+44T>A (n.495+44T>A) c.2556+44T>A (n.2556+44T>A) c.2691+44T>A (n.2691+44T>A) c.2697+44T>A (n.2697+44T>A) c.2613+44T>A (n.2613+44T>A) c.2541+44T>A (n.2541+44T>A) c.2475+44T>A (n.2475+44T>A) c.1836+44T>A (n.1836+44T>A) c.2454+44T>A (n.2454+44T>A) | gnomAD v4 |
9 | g.137801029G>A | CA1130155589 | EHMT1 | c.2712+45G>A (n.2712+45G>A) c.2598+45G>A (n.2598+45G>A) c.2619+45G>A (n.2619+45G>A) c.2752+45G>A (n.2752+45G>A) c.606+45G>A (n.606+45G>A) c.390+45G>A (n.390+45G>A) c.1569+45G>A (n.1569+45G>A) c.282+45G>A (n.282+45G>A) c.290+45G>A n.238+45G>A c.2703+45G>A (n.2703+45G>A) c.2694+45G>A (n.2694+45G>A) c.2721+45G>A (n.2721+45G>A) c.2718+45G>A (n.2718+45G>A) c.2700+45G>A (n.2700+45G>A) c.2643+45G>A (n.2643+45G>A) c.2577+45G>A (n.2577+45G>A) c.1143+45G>A (n.1143+45G>A) c.495+45G>A (n.495+45G>A) c.2556+45G>A (n.2556+45G>A) c.2691+45G>A (n.2691+45G>A) c.2697+45G>A (n.2697+45G>A) c.2613+45G>A (n.2613+45G>A) c.2541+45G>A (n.2541+45G>A) c.2475+45G>A (n.2475+45G>A) c.1836+45G>A (n.1836+45G>A) c.2454+45G>A (n.2454+45G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801029G= | CA1884679320 | EHMT1 | c.2712+45G= (n.2712+45G=) c.2598+45G= (n.2598+45G=) c.2619+45G= (n.2619+45G=) c.2752+45G= (n.2752+45G=) c.606+45G= (n.606+45G=) c.390+45G= (n.390+45G=) c.1569+45G= (n.1569+45G=) c.282+45G= (n.282+45G=) c.290+45G= n.238+45G= c.2703+45G= (n.2703+45G=) c.2694+45G= (n.2694+45G=) c.2721+45G= (n.2721+45G=) c.2718+45G= (n.2718+45G=) c.2700+45G= (n.2700+45G=) c.2643+45G= (n.2643+45G=) c.2577+45G= (n.2577+45G=) c.1143+45G= (n.1143+45G=) c.495+45G= (n.495+45G=) c.2556+45G= (n.2556+45G=) c.2691+45G= (n.2691+45G=) c.2697+45G= (n.2697+45G=) c.2613+45G= (n.2613+45G=) c.2541+45G= (n.2541+45G=) c.2475+45G= (n.2475+45G=) c.1836+45G= (n.1836+45G=) c.2454+45G= (n.2454+45G=) | |
9 | g.137801029G>T | CA2512460790 | EHMT1 | c.2712+45G>T (n.2712+45G>T) c.2598+45G>T (n.2598+45G>T) c.2619+45G>T (n.2619+45G>T) c.2752+45G>T (n.2752+45G>T) c.606+45G>T (n.606+45G>T) c.390+45G>T (n.390+45G>T) c.1569+45G>T (n.1569+45G>T) c.282+45G>T (n.282+45G>T) c.290+45G>T n.238+45G>T c.2703+45G>T (n.2703+45G>T) c.2694+45G>T (n.2694+45G>T) c.2721+45G>T (n.2721+45G>T) c.2718+45G>T (n.2718+45G>T) c.2700+45G>T (n.2700+45G>T) c.2643+45G>T (n.2643+45G>T) c.2577+45G>T (n.2577+45G>T) c.1143+45G>T (n.1143+45G>T) c.495+45G>T (n.495+45G>T) c.2556+45G>T (n.2556+45G>T) c.2691+45G>T (n.2691+45G>T) c.2697+45G>T (n.2697+45G>T) c.2613+45G>T (n.2613+45G>T) c.2541+45G>T (n.2541+45G>T) c.2475+45G>T (n.2475+45G>T) c.1836+45G>T (n.1836+45G>T) c.2454+45G>T (n.2454+45G>T) | |
9 | g.137801030G>A | CA1884679322 | EHMT1 | c.2712+46G>A (n.2712+46G>A) c.2598+46G>A (n.2598+46G>A) c.2619+46G>A (n.2619+46G>A) c.2752+46G>A (n.2752+46G>A) c.606+46G>A (n.606+46G>A) c.390+46G>A (n.390+46G>A) c.1569+46G>A (n.1569+46G>A) c.282+46G>A (n.282+46G>A) c.290+46G>A n.238+46G>A c.2703+46G>A (n.2703+46G>A) c.2694+46G>A (n.2694+46G>A) c.2721+46G>A (n.2721+46G>A) c.2718+46G>A (n.2718+46G>A) c.2700+46G>A (n.2700+46G>A) c.2643+46G>A (n.2643+46G>A) c.2577+46G>A (n.2577+46G>A) c.1143+46G>A (n.1143+46G>A) c.495+46G>A (n.495+46G>A) c.2556+46G>A (n.2556+46G>A) c.2691+46G>A (n.2691+46G>A) c.2697+46G>A (n.2697+46G>A) c.2613+46G>A (n.2613+46G>A) c.2541+46G>A (n.2541+46G>A) c.2475+46G>A (n.2475+46G>A) c.1836+46G>A (n.1836+46G>A) c.2454+46G>A (n.2454+46G>A) | dbSNP |
9 | g.137801030G>C | CA201833111 | EHMT1 | c.2712+46G>C (n.2712+46G>C) c.2598+46G>C (n.2598+46G>C) c.2619+46G>C (n.2619+46G>C) c.2752+46G>C (n.2752+46G>C) c.606+46G>C (n.606+46G>C) c.390+46G>C (n.390+46G>C) c.1569+46G>C (n.1569+46G>C) c.282+46G>C (n.282+46G>C) c.290+46G>C n.238+46G>C c.2703+46G>C (n.2703+46G>C) c.2694+46G>C (n.2694+46G>C) c.2721+46G>C (n.2721+46G>C) c.2718+46G>C (n.2718+46G>C) c.2700+46G>C (n.2700+46G>C) c.2643+46G>C (n.2643+46G>C) c.2577+46G>C (n.2577+46G>C) c.1143+46G>C (n.1143+46G>C) c.495+46G>C (n.495+46G>C) c.2556+46G>C (n.2556+46G>C) c.2691+46G>C (n.2691+46G>C) c.2697+46G>C (n.2697+46G>C) c.2613+46G>C (n.2613+46G>C) c.2541+46G>C (n.2541+46G>C) c.2475+46G>C (n.2475+46G>C) c.1836+46G>C (n.1836+46G>C) c.2454+46G>C (n.2454+46G>C) | dbSNP gnomAD v4 |
9 | g.137801030G= | CA1884679321 | EHMT1 | c.2712+46G= (n.2712+46G=) c.2598+46G= (n.2598+46G=) c.2619+46G= (n.2619+46G=) c.2752+46G= (n.2752+46G=) c.606+46G= (n.606+46G=) c.390+46G= (n.390+46G=) c.1569+46G= (n.1569+46G=) c.282+46G= (n.282+46G=) c.290+46G= n.238+46G= c.2703+46G= (n.2703+46G=) c.2694+46G= (n.2694+46G=) c.2721+46G= (n.2721+46G=) c.2718+46G= (n.2718+46G=) c.2700+46G= (n.2700+46G=) c.2643+46G= (n.2643+46G=) c.2577+46G= (n.2577+46G=) c.1143+46G= (n.1143+46G=) c.495+46G= (n.495+46G=) c.2556+46G= (n.2556+46G=) c.2691+46G= (n.2691+46G=) c.2697+46G= (n.2697+46G=) c.2613+46G= (n.2613+46G=) c.2541+46G= (n.2541+46G=) c.2475+46G= (n.2475+46G=) c.1836+46G= (n.1836+46G=) c.2454+46G= (n.2454+46G=) | |
9 | g.137801030_137801031insA | CA2692889270 | EHMT1 | c.2712+46_2712+47insA (n.2712+46_2712+47insA) c.2598+46_2598+47insA (n.2598+46_2598+47insA) c.2619+46_2619+47insA (n.2619+46_2619+47insA) c.2752+46_2752+47insA (n.2752+46_2752+47insA) c.606+46_606+47insA (n.606+46_606+47insA) c.390+46_390+47insA (n.390+46_390+47insA) c.1569+46_1569+47insA (n.1569+46_1569+47insA) c.282+46_282+47insA (n.282+46_282+47insA) c.290+46_290+47insA n.238+46_238+47insA c.2703+46_2703+47insA (n.2703+46_2703+47insA) c.2694+46_2694+47insA (n.2694+46_2694+47insA) c.2721+46_2721+47insA (n.2721+46_2721+47insA) c.2718+46_2718+47insA (n.2718+46_2718+47insA) c.2700+46_2700+47insA (n.2700+46_2700+47insA) c.2643+46_2643+47insA (n.2643+46_2643+47insA) c.2577+46_2577+47insA (n.2577+46_2577+47insA) c.1143+46_1143+47insA (n.1143+46_1143+47insA) c.495+46_495+47insA (n.495+46_495+47insA) c.2556+46_2556+47insA (n.2556+46_2556+47insA) c.2691+46_2691+47insA (n.2691+46_2691+47insA) c.2697+46_2697+47insA (n.2697+46_2697+47insA) c.2613+46_2613+47insA (n.2613+46_2613+47insA) c.2541+46_2541+47insA (n.2541+46_2541+47insA) c.2475+46_2475+47insA (n.2475+46_2475+47insA) c.1836+46_1836+47insA (n.1836+46_1836+47insA) c.2454+46_2454+47insA (n.2454+46_2454+47insA) | gnomAD v4 |
9 | g.137801031G>A | CA2692889271 | EHMT1 | c.2712+47G>A (n.2712+47G>A) c.2598+47G>A (n.2598+47G>A) c.2619+47G>A (n.2619+47G>A) c.2752+47G>A (n.2752+47G>A) c.606+47G>A (n.606+47G>A) c.390+47G>A (n.390+47G>A) c.1569+47G>A (n.1569+47G>A) c.282+47G>A (n.282+47G>A) c.290+47G>A n.238+47G>A c.2703+47G>A (n.2703+47G>A) c.2694+47G>A (n.2694+47G>A) c.2721+47G>A (n.2721+47G>A) c.2718+47G>A (n.2718+47G>A) c.2700+47G>A (n.2700+47G>A) c.2643+47G>A (n.2643+47G>A) c.2577+47G>A (n.2577+47G>A) c.1143+47G>A (n.1143+47G>A) c.495+47G>A (n.495+47G>A) c.2556+47G>A (n.2556+47G>A) c.2691+47G>A (n.2691+47G>A) c.2697+47G>A (n.2697+47G>A) c.2613+47G>A (n.2613+47G>A) c.2541+47G>A (n.2541+47G>A) c.2475+47G>A (n.2475+47G>A) c.1836+47G>A (n.1836+47G>A) c.2454+47G>A (n.2454+47G>A) | gnomAD v4 |
9 | g.137801032G>A | CA2579536397 | EHMT1 | c.2712+48G>A (n.2712+48G>A) c.2598+48G>A (n.2598+48G>A) c.2619+48G>A (n.2619+48G>A) c.2752+48G>A (n.2752+48G>A) c.606+48G>A (n.606+48G>A) c.390+48G>A (n.390+48G>A) c.1569+48G>A (n.1569+48G>A) c.282+48G>A (n.282+48G>A) c.290+48G>A n.238+48G>A c.2703+48G>A (n.2703+48G>A) c.2694+48G>A (n.2694+48G>A) c.2721+48G>A (n.2721+48G>A) c.2718+48G>A (n.2718+48G>A) c.2700+48G>A (n.2700+48G>A) c.2643+48G>A (n.2643+48G>A) c.2577+48G>A (n.2577+48G>A) c.1143+48G>A (n.1143+48G>A) c.495+48G>A (n.495+48G>A) c.2556+48G>A (n.2556+48G>A) c.2691+48G>A (n.2691+48G>A) c.2697+48G>A (n.2697+48G>A) c.2613+48G>A (n.2613+48G>A) c.2541+48G>A (n.2541+48G>A) c.2475+48G>A (n.2475+48G>A) c.1836+48G>A (n.1836+48G>A) c.2454+48G>A (n.2454+48G>A) | gnomAD v4 |
9 | g.137801032_137801033delinsGA | CA1884679323 | EHMT1 | c.2712+48_2712+49delinsGA (n.2712+48_2712+49delinsGA) c.2598+48_2598+49delinsGA (n.2598+48_2598+49delinsGA) c.2619+48_2619+49delinsGA (n.2619+48_2619+49delinsGA) c.2752+48_2752+49delinsGA (n.2752+48_2752+49delinsGA) c.606+48_606+49delinsGA (n.606+48_606+49delinsGA) c.390+48_390+49delinsGA (n.390+48_390+49delinsGA) c.1569+48_1569+49delinsGA (n.1569+48_1569+49delinsGA) c.282+48_282+49delinsGA (n.282+48_282+49delinsGA) c.290+48_290+49delinsGA n.238+48_238+49delinsGA c.2703+48_2703+49delinsGA (n.2703+48_2703+49delinsGA) c.2694+48_2694+49delinsGA (n.2694+48_2694+49delinsGA) c.2721+48_2721+49delinsGA (n.2721+48_2721+49delinsGA) c.2718+48_2718+49delinsGA (n.2718+48_2718+49delinsGA) c.2700+48_2700+49delinsGA (n.2700+48_2700+49delinsGA) c.2643+48_2643+49delinsGA (n.2643+48_2643+49delinsGA) c.2577+48_2577+49delinsGA (n.2577+48_2577+49delinsGA) c.1143+48_1143+49delinsGA (n.1143+48_1143+49delinsGA) c.495+48_495+49delinsGA (n.495+48_495+49delinsGA) c.2556+48_2556+49delinsGA (n.2556+48_2556+49delinsGA) c.2691+48_2691+49delinsGA (n.2691+48_2691+49delinsGA) c.2697+48_2697+49delinsGA (n.2697+48_2697+49delinsGA) c.2613+48_2613+49delinsGA (n.2613+48_2613+49delinsGA) c.2541+48_2541+49delinsGA (n.2541+48_2541+49delinsGA) c.2475+48_2475+49delinsGA (n.2475+48_2475+49delinsGA) c.1836+48_1836+49delinsGA (n.1836+48_1836+49delinsGA) c.2454+48_2454+49delinsGA (n.2454+48_2454+49delinsGA) | |
9 | g.137801033del | CA861214485 | EHMT1 | c.2712+49del (n.2712+49del) c.2598+49del (n.2598+49del) c.2619+49del (n.2619+49del) c.2752+49del (n.2752+49del) c.606+49del (n.606+49del) c.390+49del (n.390+49del) c.1569+49del (n.1569+49del) c.282+49del (n.282+49del) c.290+49del n.238+49del c.2703+49del (n.2703+49del) c.2694+49del (n.2694+49del) c.2721+49del (n.2721+49del) c.2718+49del (n.2718+49del) c.2700+49del (n.2700+49del) c.2643+49del (n.2643+49del) c.2577+49del (n.2577+49del) c.1143+49del (n.1143+49del) c.495+49del (n.495+49del) c.2556+49del (n.2556+49del) c.2691+49del (n.2691+49del) c.2697+49del (n.2697+49del) c.2613+49del (n.2613+49del) c.2541+49del (n.2541+49del) c.2475+49del (n.2475+49del) c.1836+49del (n.1836+49del) c.2454+49del (n.2454+49del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801033A= | CA1884679324 | EHMT1 | c.2712+49A= (n.2712+49A=) c.2598+49A= (n.2598+49A=) c.2619+49A= (n.2619+49A=) c.2752+49A= (n.2752+49A=) c.606+49A= (n.606+49A=) c.390+49A= (n.390+49A=) c.1569+49A= (n.1569+49A=) c.282+49A= (n.282+49A=) c.290+49A= n.238+49A= c.2703+49A= (n.2703+49A=) c.2694+49A= (n.2694+49A=) c.2721+49A= (n.2721+49A=) c.2718+49A= (n.2718+49A=) c.2700+49A= (n.2700+49A=) c.2643+49A= (n.2643+49A=) c.2577+49A= (n.2577+49A=) c.1143+49A= (n.1143+49A=) c.495+49A= (n.495+49A=) c.2556+49A= (n.2556+49A=) c.2691+49A= (n.2691+49A=) c.2697+49A= (n.2697+49A=) c.2613+49A= (n.2613+49A=) c.2541+49A= (n.2541+49A=) c.2475+49A= (n.2475+49A=) c.1836+49A= (n.1836+49A=) c.2454+49A= (n.2454+49A=) | |
9 | g.137801033A>C | CA1130155590 | EHMT1 | c.2712+49A>C (n.2712+49A>C) c.2598+49A>C (n.2598+49A>C) c.2619+49A>C (n.2619+49A>C) c.2752+49A>C (n.2752+49A>C) c.606+49A>C (n.606+49A>C) c.390+49A>C (n.390+49A>C) c.1569+49A>C (n.1569+49A>C) c.282+49A>C (n.282+49A>C) c.290+49A>C n.238+49A>C c.2703+49A>C (n.2703+49A>C) c.2694+49A>C (n.2694+49A>C) c.2721+49A>C (n.2721+49A>C) c.2718+49A>C (n.2718+49A>C) c.2700+49A>C (n.2700+49A>C) c.2643+49A>C (n.2643+49A>C) c.2577+49A>C (n.2577+49A>C) c.1143+49A>C (n.1143+49A>C) c.495+49A>C (n.495+49A>C) c.2556+49A>C (n.2556+49A>C) c.2691+49A>C (n.2691+49A>C) c.2697+49A>C (n.2697+49A>C) c.2613+49A>C (n.2613+49A>C) c.2541+49A>C (n.2541+49A>C) c.2475+49A>C (n.2475+49A>C) c.1836+49A>C (n.1836+49A>C) c.2454+49A>C (n.2454+49A>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137801033A>G | CA2692889272 | EHMT1 | c.2712+49A>G (n.2712+49A>G) c.2598+49A>G (n.2598+49A>G) c.2619+49A>G (n.2619+49A>G) c.2752+49A>G (n.2752+49A>G) c.606+49A>G (n.606+49A>G) c.390+49A>G (n.390+49A>G) c.1569+49A>G (n.1569+49A>G) c.282+49A>G (n.282+49A>G) c.290+49A>G n.238+49A>G c.2703+49A>G (n.2703+49A>G) c.2694+49A>G (n.2694+49A>G) c.2721+49A>G (n.2721+49A>G) c.2718+49A>G (n.2718+49A>G) c.2700+49A>G (n.2700+49A>G) c.2643+49A>G (n.2643+49A>G) c.2577+49A>G (n.2577+49A>G) c.1143+49A>G (n.1143+49A>G) c.495+49A>G (n.495+49A>G) c.2556+49A>G (n.2556+49A>G) c.2691+49A>G (n.2691+49A>G) c.2697+49A>G (n.2697+49A>G) c.2613+49A>G (n.2613+49A>G) c.2541+49A>G (n.2541+49A>G) c.2475+49A>G (n.2475+49A>G) c.1836+49A>G (n.1836+49A>G) c.2454+49A>G (n.2454+49A>G) | gnomAD v4 |
9 | g.137801033A>T | CA1884679325 | EHMT1 | c.2712+49A>T (n.2712+49A>T) c.2598+49A>T (n.2598+49A>T) c.2619+49A>T (n.2619+49A>T) c.2752+49A>T (n.2752+49A>T) c.606+49A>T (n.606+49A>T) c.390+49A>T (n.390+49A>T) c.1569+49A>T (n.1569+49A>T) c.282+49A>T (n.282+49A>T) c.290+49A>T n.238+49A>T c.2703+49A>T (n.2703+49A>T) c.2694+49A>T (n.2694+49A>T) c.2721+49A>T (n.2721+49A>T) c.2718+49A>T (n.2718+49A>T) c.2700+49A>T (n.2700+49A>T) c.2643+49A>T (n.2643+49A>T) c.2577+49A>T (n.2577+49A>T) c.1143+49A>T (n.1143+49A>T) c.495+49A>T (n.495+49A>T) c.2556+49A>T (n.2556+49A>T) c.2691+49A>T (n.2691+49A>T) c.2697+49A>T (n.2697+49A>T) c.2613+49A>T (n.2613+49A>T) c.2541+49A>T (n.2541+49A>T) c.2475+49A>T (n.2475+49A>T) c.1836+49A>T (n.1836+49A>T) c.2454+49A>T (n.2454+49A>T) | dbSNP gnomAD v4 |
9 | g.137801034C>A | CA2692889273 | EHMT1 | c.2712+50C>A (n.2712+50C>A) c.2598+50C>A (n.2598+50C>A) c.2619+50C>A (n.2619+50C>A) c.2752+50C>A (n.2752+50C>A) c.606+50C>A (n.606+50C>A) c.390+50C>A (n.390+50C>A) c.1569+50C>A (n.1569+50C>A) c.282+50C>A (n.282+50C>A) c.290+50C>A n.238+50C>A c.2703+50C>A (n.2703+50C>A) c.2694+50C>A (n.2694+50C>A) c.2721+50C>A (n.2721+50C>A) c.2718+50C>A (n.2718+50C>A) c.2700+50C>A (n.2700+50C>A) c.2643+50C>A (n.2643+50C>A) c.2577+50C>A (n.2577+50C>A) c.1143+50C>A (n.1143+50C>A) c.495+50C>A (n.495+50C>A) c.2556+50C>A (n.2556+50C>A) c.2691+50C>A (n.2691+50C>A) c.2697+50C>A (n.2697+50C>A) c.2613+50C>A (n.2613+50C>A) c.2541+50C>A (n.2541+50C>A) c.2475+50C>A (n.2475+50C>A) c.1836+50C>A (n.1836+50C>A) c.2454+50C>A (n.2454+50C>A) | gnomAD v4 |
9 | g.137801034C>T | CA2579536398 | EHMT1 | c.2712+50C>T (n.2712+50C>T) c.2598+50C>T (n.2598+50C>T) c.2619+50C>T (n.2619+50C>T) c.2752+50C>T (n.2752+50C>T) c.606+50C>T (n.606+50C>T) c.390+50C>T (n.390+50C>T) c.1569+50C>T (n.1569+50C>T) c.282+50C>T (n.282+50C>T) c.290+50C>T n.238+50C>T c.2703+50C>T (n.2703+50C>T) c.2694+50C>T (n.2694+50C>T) c.2721+50C>T (n.2721+50C>T) c.2718+50C>T (n.2718+50C>T) c.2700+50C>T (n.2700+50C>T) c.2643+50C>T (n.2643+50C>T) c.2577+50C>T (n.2577+50C>T) c.1143+50C>T (n.1143+50C>T) c.495+50C>T (n.495+50C>T) c.2556+50C>T (n.2556+50C>T) c.2691+50C>T (n.2691+50C>T) c.2697+50C>T (n.2697+50C>T) c.2613+50C>T (n.2613+50C>T) c.2541+50C>T (n.2541+50C>T) c.2475+50C>T (n.2475+50C>T) c.1836+50C>T (n.1836+50C>T) c.2454+50C>T (n.2454+50C>T) | gnomAD v4 |
9 | g.137801035C>A | CA2579536399 | EHMT1 | c.2712+51C>A (n.2712+51C>A) c.2598+51C>A (n.2598+51C>A) c.2619+51C>A (n.2619+51C>A) c.2752+51C>A (n.2752+51C>A) c.606+51C>A (n.606+51C>A) c.390+51C>A (n.390+51C>A) c.1569+51C>A (n.1569+51C>A) c.282+51C>A (n.282+51C>A) c.290+51C>A n.238+51C>A c.2703+51C>A (n.2703+51C>A) c.2694+51C>A (n.2694+51C>A) c.2721+51C>A (n.2721+51C>A) c.2718+51C>A (n.2718+51C>A) c.2700+51C>A (n.2700+51C>A) c.2643+51C>A (n.2643+51C>A) c.2577+51C>A (n.2577+51C>A) c.1143+51C>A (n.1143+51C>A) c.495+51C>A (n.495+51C>A) c.2556+51C>A (n.2556+51C>A) c.2691+51C>A (n.2691+51C>A) c.2697+51C>A (n.2697+51C>A) c.2613+51C>A (n.2613+51C>A) c.2541+51C>A (n.2541+51C>A) c.2475+51C>A (n.2475+51C>A) c.1836+51C>A (n.1836+51C>A) c.2454+51C>A (n.2454+51C>A) | |
9 | g.137801035C>G | CA2692889274 | EHMT1 | c.2712+51C>G (n.2712+51C>G) c.2598+51C>G (n.2598+51C>G) c.2619+51C>G (n.2619+51C>G) c.2752+51C>G (n.2752+51C>G) c.606+51C>G (n.606+51C>G) c.390+51C>G (n.390+51C>G) c.1569+51C>G (n.1569+51C>G) c.282+51C>G (n.282+51C>G) c.290+51C>G n.238+51C>G c.2703+51C>G (n.2703+51C>G) c.2694+51C>G (n.2694+51C>G) c.2721+51C>G (n.2721+51C>G) c.2718+51C>G (n.2718+51C>G) c.2700+51C>G (n.2700+51C>G) c.2643+51C>G (n.2643+51C>G) c.2577+51C>G (n.2577+51C>G) c.1143+51C>G (n.1143+51C>G) c.495+51C>G (n.495+51C>G) c.2556+51C>G (n.2556+51C>G) c.2691+51C>G (n.2691+51C>G) c.2697+51C>G (n.2697+51C>G) c.2613+51C>G (n.2613+51C>G) c.2541+51C>G (n.2541+51C>G) c.2475+51C>G (n.2475+51C>G) c.1836+51C>G (n.1836+51C>G) c.2454+51C>G (n.2454+51C>G) | gnomAD v4 |
9 | g.137801036T>C | CA2692889275 | EHMT1 | c.2712+52T>C (n.2712+52T>C) c.2598+52T>C (n.2598+52T>C) c.2619+52T>C (n.2619+52T>C) c.2752+52T>C (n.2752+52T>C) c.606+52T>C (n.606+52T>C) c.390+52T>C (n.390+52T>C) c.1569+52T>C (n.1569+52T>C) c.282+52T>C (n.282+52T>C) c.290+52T>C n.238+52T>C c.2703+52T>C (n.2703+52T>C) c.2694+52T>C (n.2694+52T>C) c.2721+52T>C (n.2721+52T>C) c.2718+52T>C (n.2718+52T>C) c.2700+52T>C (n.2700+52T>C) c.2643+52T>C (n.2643+52T>C) c.2577+52T>C (n.2577+52T>C) c.1143+52T>C (n.1143+52T>C) c.495+52T>C (n.495+52T>C) c.2556+52T>C (n.2556+52T>C) c.2691+52T>C (n.2691+52T>C) c.2697+52T>C (n.2697+52T>C) c.2613+52T>C (n.2613+52T>C) c.2541+52T>C (n.2541+52T>C) c.2475+52T>C (n.2475+52T>C) c.1836+52T>C (n.1836+52T>C) c.2454+52T>C (n.2454+52T>C) | gnomAD v4 |
9 | g.137801037C>A | CA2532399612 | EHMT1 | c.2712+53C>A (n.2712+53C>A) c.2598+53C>A (n.2598+53C>A) c.2619+53C>A (n.2619+53C>A) c.2752+53C>A (n.2752+53C>A) c.606+53C>A (n.606+53C>A) c.390+53C>A (n.390+53C>A) c.1569+53C>A (n.1569+53C>A) c.282+53C>A (n.282+53C>A) c.290+53C>A n.238+53C>A c.2703+53C>A (n.2703+53C>A) c.2694+53C>A (n.2694+53C>A) c.2721+53C>A (n.2721+53C>A) c.2718+53C>A (n.2718+53C>A) c.2700+53C>A (n.2700+53C>A) c.2643+53C>A (n.2643+53C>A) c.2577+53C>A (n.2577+53C>A) c.1143+53C>A (n.1143+53C>A) c.495+53C>A (n.495+53C>A) c.2556+53C>A (n.2556+53C>A) c.2691+53C>A (n.2691+53C>A) c.2697+53C>A (n.2697+53C>A) c.2613+53C>A (n.2613+53C>A) c.2541+53C>A (n.2541+53C>A) c.2475+53C>A (n.2475+53C>A) c.1836+53C>A (n.1836+53C>A) c.2454+53C>A (n.2454+53C>A) | |
9 | g.137801037C= | CA1884679326 | EHMT1 | c.2712+53C= (n.2712+53C=) c.2598+53C= (n.2598+53C=) c.2619+53C= (n.2619+53C=) c.2752+53C= (n.2752+53C=) c.606+53C= (n.606+53C=) c.390+53C= (n.390+53C=) c.1569+53C= (n.1569+53C=) c.282+53C= (n.282+53C=) c.290+53C= n.238+53C= c.2703+53C= (n.2703+53C=) c.2694+53C= (n.2694+53C=) c.2721+53C= (n.2721+53C=) c.2718+53C= (n.2718+53C=) c.2700+53C= (n.2700+53C=) c.2643+53C= (n.2643+53C=) c.2577+53C= (n.2577+53C=) c.1143+53C= (n.1143+53C=) c.495+53C= (n.495+53C=) c.2556+53C= (n.2556+53C=) c.2691+53C= (n.2691+53C=) c.2697+53C= (n.2697+53C=) c.2613+53C= (n.2613+53C=) c.2541+53C= (n.2541+53C=) c.2475+53C= (n.2475+53C=) c.1836+53C= (n.1836+53C=) c.2454+53C= (n.2454+53C=) | |
9 | g.137801037C>T | CA591249537 | EHMT1 | c.2712+53C>T (n.2712+53C>T) c.2598+53C>T (n.2598+53C>T) c.2619+53C>T (n.2619+53C>T) c.2752+53C>T (n.2752+53C>T) c.606+53C>T (n.606+53C>T) c.390+53C>T (n.390+53C>T) c.1569+53C>T (n.1569+53C>T) c.282+53C>T (n.282+53C>T) c.290+53C>T n.238+53C>T c.2703+53C>T (n.2703+53C>T) c.2694+53C>T (n.2694+53C>T) c.2721+53C>T (n.2721+53C>T) c.2718+53C>T (n.2718+53C>T) c.2700+53C>T (n.2700+53C>T) c.2643+53C>T (n.2643+53C>T) c.2577+53C>T (n.2577+53C>T) c.1143+53C>T (n.1143+53C>T) c.495+53C>T (n.495+53C>T) c.2556+53C>T (n.2556+53C>T) c.2691+53C>T (n.2691+53C>T) c.2697+53C>T (n.2697+53C>T) c.2613+53C>T (n.2613+53C>T) c.2541+53C>T (n.2541+53C>T) c.2475+53C>T (n.2475+53C>T) c.1836+53C>T (n.1836+53C>T) c.2454+53C>T (n.2454+53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |