Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137813421_137813423delinsCCTCA1884685879EHMT1c.3071_3073delinsCCT (p.Pro1024=)
c.2978_2980delinsCCT (p.Pro993=)
c.3111_3113delinsCCT (n.3111_3113delinsCCT)
c.965_967delinsCCT (p.Pro322=)
c.1928_1930delinsCCT (p.Pro643=)
c.758_760delinsCCT
n.597_599delinsCCT
c.3062_3064delinsCCT (p.Pro1021=)
c.3053_3055delinsCCT (p.Pro1018=)
c.3080_3082delinsCCT (p.Pro1027=)
c.3077_3079delinsCCT (p.Pro1026=)
c.3059_3061delinsCCT (p.Pro1020=)
c.3002_3004delinsCCT (p.Pro1001=)
c.2936_2938delinsCCT (p.Pro979=)
c.1502_1504delinsCCT (p.Pro501=)
c.854_856delinsCCT (p.Pro285=)
c.641_643delinsCCT (p.Pro214=)
c.2915_2917delinsCCT (p.Pro972=)
c.3050_3052delinsCCT (p.Pro1017=)
c.3056_3058delinsCCT (p.Pro1019=)
c.2972_2974delinsCCT (p.Pro991=)
c.2957_2959delinsCCT (p.Pro986=)
c.2900_2902delinsCCT (p.Pro967=)
c.2834_2836delinsCCT (p.Pro945=)
c.2195_2197delinsCCT (p.Pro732=)
c.2813_2815delinsCCT (p.Pro938=)
9g.137813422_137813423delCA645294057EHMT1c.3072_3073del (p.Val1026GlnfsTer?)
c.2979_2980del (p.Val995GlnfsTer?)
c.3112_3113del (n.3112_3113del)
c.966_967del (p.Val324GlnfsTer?)
c.1929_1930del (p.Val645GlnfsTer?)
c.759_760del
n.598_599del
c.3063_3064del (p.Val1023GlnfsTer?)
c.3054_3055del (p.Val1020GlnfsTer?)
c.3081_3082del (p.Val1029GlnfsTer?)
c.3078_3079del (p.Val1028GlnfsTer?)
c.3060_3061del (p.Val1022GlnfsTer?)
c.3003_3004del (p.Val1003GlnfsTer?)
c.2937_2938del (p.Val981GlnfsTer?)
c.1503_1504del (p.Val503GlnfsTer?)
c.855_856del (p.Val287GlnfsTer?)
c.642_643del (p.Val216GlnfsTer?)
c.2916_2917del (p.Val974GlnfsTer?)
c.3051_3052del (p.Val1019GlnfsTer?)
c.3057_3058del (p.Val1021GlnfsTer?)
c.2973_2974del (p.Val993GlnfsTer?)
c.2958_2959del (p.Val988GlnfsTer?)
c.2901_2902del (p.Val969GlnfsTer?)
c.2835_2836del (p.Val947GlnfsTer?)
c.2196_2197del (p.Val734GlnfsTer?)
c.2814_2815del (p.Val940GlnfsTer?)
 ClinVar dbSNP
9g.137813423T>ACA375793954EHMT1c.3073T>A (p.Cys1025Ser)
c.2980T>A (p.Cys994Ser)
c.3113T>A (n.3113T>A)
c.967T>A (p.Cys323Ser)
c.1930T>A (p.Cys644Ser)
c.760T>A
n.599T>A
c.3064T>A (p.Cys1022Ser)
c.3055T>A (p.Cys1019Ser)
c.3082T>A (p.Cys1028Ser)
c.3079T>A (p.Cys1027Ser)
c.3061T>A (p.Cys1021Ser)
c.3004T>A (p.Cys1002Ser)
c.2938T>A (p.Cys980Ser)
c.1504T>A (p.Cys502Ser)
c.856T>A (p.Cys286Ser)
c.643T>A (p.Cys215Ser)
c.2917T>A (p.Cys973Ser)
c.3052T>A (p.Cys1018Ser)
c.3058T>A (p.Cys1020Ser)
c.2974T>A (p.Cys992Ser)
c.2959T>A (p.Cys987Ser)
c.2902T>A (p.Cys968Ser)
c.2836T>A (p.Cys946Ser)
c.2197T>A (p.Cys733Ser)
c.2815T>A (p.Cys939Ser)
9g.137813423T>CCA375793957EHMT1c.3073T>C (p.Cys1025Arg)
c.2980T>C (p.Cys994Arg)
c.3113T>C (n.3113T>C)
c.967T>C (p.Cys323Arg)
c.1930T>C (p.Cys644Arg)
c.760T>C
n.599T>C
c.3064T>C (p.Cys1022Arg)
c.3055T>C (p.Cys1019Arg)
c.3082T>C (p.Cys1028Arg)
c.3079T>C (p.Cys1027Arg)
c.3061T>C (p.Cys1021Arg)
c.3004T>C (p.Cys1002Arg)
c.2938T>C (p.Cys980Arg)
c.1504T>C (p.Cys502Arg)
c.856T>C (p.Cys286Arg)
c.643T>C (p.Cys215Arg)
c.2917T>C (p.Cys973Arg)
c.3052T>C (p.Cys1018Arg)
c.3058T>C (p.Cys1020Arg)
c.2974T>C (p.Cys992Arg)
c.2959T>C (p.Cys987Arg)
c.2902T>C (p.Cys968Arg)
c.2836T>C (p.Cys946Arg)
c.2197T>C (p.Cys733Arg)
c.2815T>C (p.Cys939Arg)
9g.137813423T>GCA375793958EHMT1c.3073T>G (p.Cys1025Gly)
c.2980T>G (p.Cys994Gly)
c.3113T>G (n.3113T>G)
c.967T>G (p.Cys323Gly)
c.1930T>G (p.Cys644Gly)
c.760T>G
n.599T>G
c.3064T>G (p.Cys1022Gly)
c.3055T>G (p.Cys1019Gly)
c.3082T>G (p.Cys1028Gly)
c.3079T>G (p.Cys1027Gly)
c.3061T>G (p.Cys1021Gly)
c.3004T>G (p.Cys1002Gly)
c.2938T>G (p.Cys980Gly)
c.1504T>G (p.Cys502Gly)
c.856T>G (p.Cys286Gly)
c.643T>G (p.Cys215Gly)
c.2917T>G (p.Cys973Gly)
c.3052T>G (p.Cys1018Gly)
c.3058T>G (p.Cys1020Gly)
c.2974T>G (p.Cys992Gly)
c.2959T>G (p.Cys987Gly)
c.2902T>G (p.Cys968Gly)
c.2836T>G (p.Cys946Gly)
c.2197T>G (p.Cys733Gly)
c.2815T>G (p.Cys939Gly)
9g.137813424G>ACA375793960EHMT1c.3074G>A (p.Cys1025Tyr)
c.2981G>A (p.Cys994Tyr)
c.3114G>A (n.3114G>A)
c.968G>A (p.Cys323Tyr)
c.1931G>A (p.Cys644Tyr)
c.761G>A
n.600G>A
c.3065G>A (p.Cys1022Tyr)
c.3056G>A (p.Cys1019Tyr)
c.3083G>A (p.Cys1028Tyr)
c.3080G>A (p.Cys1027Tyr)
c.3062G>A (p.Cys1021Tyr)
c.3005G>A (p.Cys1002Tyr)
c.2939G>A (p.Cys980Tyr)
c.1505G>A (p.Cys502Tyr)
c.857G>A (p.Cys286Tyr)
c.644G>A (p.Cys215Tyr)
c.2918G>A (p.Cys973Tyr)
c.3053G>A (p.Cys1018Tyr)
c.3059G>A (p.Cys1020Tyr)
c.2975G>A (p.Cys992Tyr)
c.2960G>A (p.Cys987Tyr)
c.2903G>A (p.Cys968Tyr)
c.2837G>A (p.Cys946Tyr)
c.2198G>A (p.Cys733Tyr)
c.2816G>A (p.Cys939Tyr)
9g.137813424G>CCA5375161EHMT1c.3074G>C (p.Cys1025Ser)
c.2981G>C (p.Cys994Ser)
c.3114G>C (n.3114G>C)
c.968G>C (p.Cys323Ser)
c.1931G>C (p.Cys644Ser)
c.761G>C
n.600G>C
c.3065G>C (p.Cys1022Ser)
c.3056G>C (p.Cys1019Ser)
c.3083G>C (p.Cys1028Ser)
c.3080G>C (p.Cys1027Ser)
c.3062G>C (p.Cys1021Ser)
c.3005G>C (p.Cys1002Ser)
c.2939G>C (p.Cys980Ser)
c.1505G>C (p.Cys502Ser)
c.857G>C (p.Cys286Ser)
c.644G>C (p.Cys215Ser)
c.2918G>C (p.Cys973Ser)
c.3053G>C (p.Cys1018Ser)
c.3059G>C (p.Cys1020Ser)
c.2975G>C (p.Cys992Ser)
c.2960G>C (p.Cys987Ser)
c.2903G>C (p.Cys968Ser)
c.2837G>C (p.Cys946Ser)
c.2198G>C (p.Cys733Ser)
c.2816G>C (p.Cys939Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
9g.137813424G=CA1884685881EHMT1c.3074G= (p.Cys1025=)
c.2981G= (p.Cys994=)
c.3114G= (n.3114G=)
c.968G= (p.Cys323=)
c.1931G= (p.Cys644=)
c.761G=
n.600G=
c.3065G= (p.Cys1022=)
c.3056G= (p.Cys1019=)
c.3083G= (p.Cys1028=)
c.3080G= (p.Cys1027=)
c.3062G= (p.Cys1021=)
c.3005G= (p.Cys1002=)
c.2939G= (p.Cys980=)
c.1505G= (p.Cys502=)
c.857G= (p.Cys286=)
c.644G= (p.Cys215=)
c.2918G= (p.Cys973=)
c.3053G= (p.Cys1018=)
c.3059G= (p.Cys1020=)
c.2975G= (p.Cys992=)
c.2960G= (p.Cys987=)
c.2903G= (p.Cys968=)
c.2837G= (p.Cys946=)
c.2198G= (p.Cys733=)
c.2816G= (p.Cys939=)
9g.137813424G>TCA375793959EHMT1c.3074G>T (p.Cys1025Phe)
c.2981G>T (p.Cys994Phe)
c.3114G>T (n.3114G>T)
c.968G>T (p.Cys323Phe)
c.1931G>T (p.Cys644Phe)
c.761G>T
n.600G>T
c.3065G>T (p.Cys1022Phe)
c.3056G>T (p.Cys1019Phe)
c.3083G>T (p.Cys1028Phe)
c.3080G>T (p.Cys1027Phe)
c.3062G>T (p.Cys1021Phe)
c.3005G>T (p.Cys1002Phe)
c.2939G>T (p.Cys980Phe)
c.1505G>T (p.Cys502Phe)
c.857G>T (p.Cys286Phe)
c.644G>T (p.Cys215Phe)
c.2918G>T (p.Cys973Phe)
c.3053G>T (p.Cys1018Phe)
c.3059G>T (p.Cys1020Phe)
c.2975G>T (p.Cys992Phe)
c.2960G>T (p.Cys987Phe)
c.2903G>T (p.Cys968Phe)
c.2837G>T (p.Cys946Phe)
c.2198G>T (p.Cys733Phe)
c.2816G>T (p.Cys939Phe)
9g.137813425T>ACA375793961EHMT1c.3075T>A (p.Cys1025Ter)
c.2982T>A (p.Cys994Ter)
c.3115T>A (n.3115T>A)
c.969T>A (p.Cys323Ter)
c.1932T>A (p.Cys644Ter)
c.762T>A
n.601T>A
c.3066T>A (p.Cys1022Ter)
c.3057T>A (p.Cys1019Ter)
c.3084T>A (p.Cys1028Ter)
c.3081T>A (p.Cys1027Ter)
c.3063T>A (p.Cys1021Ter)
c.3006T>A (p.Cys1002Ter)
c.2940T>A (p.Cys980Ter)
c.1506T>A (p.Cys502Ter)
c.858T>A (p.Cys286Ter)
c.645T>A (p.Cys215Ter)
c.2919T>A (p.Cys973Ter)
c.3054T>A (p.Cys1018Ter)
c.3060T>A (p.Cys1020Ter)
c.2976T>A (p.Cys992Ter)
c.2961T>A (p.Cys987Ter)
c.2904T>A (p.Cys968Ter)
c.2838T>A (p.Cys946Ter)
c.2199T>A (p.Cys733Ter)
c.2817T>A (p.Cys939Ter)
9g.137813425T>CCA468161419EHMT1c.3075T>C (p.Cys1025=)
c.2982T>C (p.Cys994=)
c.3115T>C (n.3115T>C)
c.969T>C (p.Cys323=)
c.1932T>C (p.Cys644=)
c.762T>C
n.601T>C
c.3066T>C (p.Cys1022=)
c.3057T>C (p.Cys1019=)
c.3084T>C (p.Cys1028=)
c.3081T>C (p.Cys1027=)
c.3063T>C (p.Cys1021=)
c.3006T>C (p.Cys1002=)
c.2940T>C (p.Cys980=)
c.1506T>C (p.Cys502=)
c.858T>C (p.Cys286=)
c.645T>C (p.Cys215=)
c.2919T>C (p.Cys973=)
c.3054T>C (p.Cys1018=)
c.3060T>C (p.Cys1020=)
c.2976T>C (p.Cys992=)
c.2961T>C (p.Cys987=)
c.2904T>C (p.Cys968=)
c.2838T>C (p.Cys946=)
c.2199T>C (p.Cys733=)
c.2817T>C (p.Cys939=)
 ClinVar dbSNP
9g.137813425T>GCA375793962EHMT1c.3075T>G (p.Cys1025Trp)
c.2982T>G (p.Cys994Trp)
c.3115T>G (n.3115T>G)
c.969T>G (p.Cys323Trp)
c.1932T>G (p.Cys644Trp)
c.762T>G
n.601T>G
c.3066T>G (p.Cys1022Trp)
c.3057T>G (p.Cys1019Trp)
c.3084T>G (p.Cys1028Trp)
c.3081T>G (p.Cys1027Trp)
c.3063T>G (p.Cys1021Trp)
c.3006T>G (p.Cys1002Trp)
c.2940T>G (p.Cys980Trp)
c.1506T>G (p.Cys502Trp)
c.858T>G (p.Cys286Trp)
c.645T>G (p.Cys215Trp)
c.2919T>G (p.Cys973Trp)
c.3054T>G (p.Cys1018Trp)
c.3060T>G (p.Cys1020Trp)
c.2976T>G (p.Cys992Trp)
c.2961T>G (p.Cys987Trp)
c.2904T>G (p.Cys968Trp)
c.2838T>G (p.Cys946Trp)
c.2199T>G (p.Cys733Trp)
c.2817T>G (p.Cys939Trp)
9g.137813426G>ACA375793964EHMT1c.3076G>A (p.Val1026Ile)
c.2983G>A (p.Val995Ile)
c.3116G>A (n.3116G>A)
c.970G>A (p.Val324Ile)
c.1933G>A (p.Val645Ile)
c.763G>A
n.602G>A
c.3067G>A (p.Val1023Ile)
c.3058G>A (p.Val1020Ile)
c.3085G>A (p.Val1029Ile)
c.3082G>A (p.Val1028Ile)
c.3064G>A (p.Val1022Ile)
c.3007G>A (p.Val1003Ile)
c.2941G>A (p.Val981Ile)
c.1507G>A (p.Val503Ile)
c.859G>A (p.Val287Ile)
c.646G>A (p.Val216Ile)
c.2920G>A (p.Val974Ile)
c.3055G>A (p.Val1019Ile)
c.3061G>A (p.Val1021Ile)
c.2977G>A (p.Val993Ile)
c.2962G>A (p.Val988Ile)
c.2905G>A (p.Val969Ile)
c.2839G>A (p.Val947Ile)
c.2200G>A (p.Val734Ile)
c.2818G>A (p.Val940Ile)
9g.137813426G>CCA375793966EHMT1c.3076G>C (p.Val1026Leu)
c.2983G>C (p.Val995Leu)
c.3116G>C (n.3116G>C)
c.970G>C (p.Val324Leu)
c.1933G>C (p.Val645Leu)
c.763G>C
n.602G>C
c.3067G>C (p.Val1023Leu)
c.3058G>C (p.Val1020Leu)
c.3085G>C (p.Val1029Leu)
c.3082G>C (p.Val1028Leu)
c.3064G>C (p.Val1022Leu)
c.3007G>C (p.Val1003Leu)
c.2941G>C (p.Val981Leu)
c.1507G>C (p.Val503Leu)
c.859G>C (p.Val287Leu)
c.646G>C (p.Val216Leu)
c.2920G>C (p.Val974Leu)
c.3055G>C (p.Val1019Leu)
c.3061G>C (p.Val1021Leu)
c.2977G>C (p.Val993Leu)
c.2962G>C (p.Val988Leu)
c.2905G>C (p.Val969Leu)
c.2839G>C (p.Val947Leu)
c.2200G>C (p.Val734Leu)
c.2818G>C (p.Val940Leu)
9g.137813426G>TCA375793969EHMT1c.3076G>T (p.Val1026Phe)
c.2983G>T (p.Val995Phe)
c.3116G>T (n.3116G>T)
c.970G>T (p.Val324Phe)
c.1933G>T (p.Val645Phe)
c.763G>T
n.602G>T
c.3067G>T (p.Val1023Phe)
c.3058G>T (p.Val1020Phe)
c.3085G>T (p.Val1029Phe)
c.3082G>T (p.Val1028Phe)
c.3064G>T (p.Val1022Phe)
c.3007G>T (p.Val1003Phe)
c.2941G>T (p.Val981Phe)
c.1507G>T (p.Val503Phe)
c.859G>T (p.Val287Phe)
c.646G>T (p.Val216Phe)
c.2920G>T (p.Val974Phe)
c.3055G>T (p.Val1019Phe)
c.3061G>T (p.Val1021Phe)
c.2977G>T (p.Val993Phe)
c.2962G>T (p.Val988Phe)
c.2905G>T (p.Val969Phe)
c.2839G>T (p.Val947Phe)
c.2200G>T (p.Val734Phe)
c.2818G>T (p.Val940Phe)
9g.137813427T>ACA375793974EHMT1c.3077T>A (p.Val1026Asp)
c.2984T>A (p.Val995Asp)
c.3117T>A (n.3117T>A)
c.971T>A (p.Val324Asp)
c.1934T>A (p.Val645Asp)
c.764T>A
n.603T>A
c.3068T>A (p.Val1023Asp)
c.3059T>A (p.Val1020Asp)
c.3086T>A (p.Val1029Asp)
c.3083T>A (p.Val1028Asp)
c.3065T>A (p.Val1022Asp)
c.3008T>A (p.Val1003Asp)
c.2942T>A (p.Val981Asp)
c.1508T>A (p.Val503Asp)
c.860T>A (p.Val287Asp)
c.647T>A (p.Val216Asp)
c.2921T>A (p.Val974Asp)
c.3056T>A (p.Val1019Asp)
c.3062T>A (p.Val1021Asp)
c.2978T>A (p.Val993Asp)
c.2963T>A (p.Val988Asp)
c.2906T>A (p.Val969Asp)
c.2840T>A (p.Val947Asp)
c.2201T>A (p.Val734Asp)
c.2819T>A (p.Val940Asp)
9g.137813427T>CCA375793972EHMT1c.3077T>C (p.Val1026Ala)
c.2984T>C (p.Val995Ala)
c.3117T>C (n.3117T>C)
c.971T>C (p.Val324Ala)
c.1934T>C (p.Val645Ala)
c.764T>C
n.603T>C
c.3068T>C (p.Val1023Ala)
c.3059T>C (p.Val1020Ala)
c.3086T>C (p.Val1029Ala)
c.3083T>C (p.Val1028Ala)
c.3065T>C (p.Val1022Ala)
c.3008T>C (p.Val1003Ala)
c.2942T>C (p.Val981Ala)
c.1508T>C (p.Val503Ala)
c.860T>C (p.Val287Ala)
c.647T>C (p.Val216Ala)
c.2921T>C (p.Val974Ala)
c.3056T>C (p.Val1019Ala)
c.3062T>C (p.Val1021Ala)
c.2978T>C (p.Val993Ala)
c.2963T>C (p.Val988Ala)
c.2906T>C (p.Val969Ala)
c.2840T>C (p.Val947Ala)
c.2201T>C (p.Val734Ala)
c.2819T>C (p.Val940Ala)
9g.137813427T>GCA375793971EHMT1c.3077T>G (p.Val1026Gly)
c.2984T>G (p.Val995Gly)
c.3117T>G (n.3117T>G)
c.971T>G (p.Val324Gly)
c.1934T>G (p.Val645Gly)
c.764T>G
n.603T>G
c.3068T>G (p.Val1023Gly)
c.3059T>G (p.Val1020Gly)
c.3086T>G (p.Val1029Gly)
c.3083T>G (p.Val1028Gly)
c.3065T>G (p.Val1022Gly)
c.3008T>G (p.Val1003Gly)
c.2942T>G (p.Val981Gly)
c.1508T>G (p.Val503Gly)
c.860T>G (p.Val287Gly)
c.647T>G (p.Val216Gly)
c.2921T>G (p.Val974Gly)
c.3056T>G (p.Val1019Gly)
c.3062T>G (p.Val1021Gly)
c.2978T>G (p.Val993Gly)
c.2963T>G (p.Val988Gly)
c.2906T>G (p.Val969Gly)
c.2840T>G (p.Val947Gly)
c.2201T>G (p.Val734Gly)
c.2819T>G (p.Val940Gly)
 dbSNP
9g.137813427T=CA1884685882EHMT1c.3077T= (p.Val1026=)
c.2984T= (p.Val995=)
c.3117T= (n.3117T=)
c.971T= (p.Val324=)
c.1934T= (p.Val645=)
c.764T=
n.603T=
c.3068T= (p.Val1023=)
c.3059T= (p.Val1020=)
c.3086T= (p.Val1029=)
c.3083T= (p.Val1028=)
c.3065T= (p.Val1022=)
c.3008T= (p.Val1003=)
c.2942T= (p.Val981=)
c.1508T= (p.Val503=)
c.860T= (p.Val287=)
c.647T= (p.Val216=)
c.2921T= (p.Val974=)
c.3056T= (p.Val1019=)
c.3062T= (p.Val1021=)
c.2978T= (p.Val993=)
c.2963T= (p.Val988=)
c.2906T= (p.Val969=)
c.2840T= (p.Val947=)
c.2201T= (p.Val734=)
c.2819T= (p.Val940=)
9g.137813428C>ACA468161420EHMT1c.3078C>A (p.Val1026=)
c.2985C>A (p.Val995=)
c.3118C>A (n.3118C>A)
c.972C>A (p.Val324=)
c.1935C>A (p.Val645=)
c.765C>A
n.604C>A
c.3069C>A (p.Val1023=)
c.3060C>A (p.Val1020=)
c.3087C>A (p.Val1029=)
c.3084C>A (p.Val1028=)
c.3066C>A (p.Val1022=)
c.3009C>A (p.Val1003=)
c.2943C>A (p.Val981=)
c.1509C>A (p.Val503=)
c.861C>A (p.Val287=)
c.648C>A (p.Val216=)
c.2922C>A (p.Val974=)
c.3057C>A (p.Val1019=)
c.3063C>A (p.Val1021=)
c.2979C>A (p.Val993=)
c.2964C>A (p.Val988=)
c.2907C>A (p.Val969=)
c.2841C>A (p.Val947=)
c.2202C>A (p.Val734=)
c.2820C>A (p.Val940=)
9g.137813428C=CA1884685883EHMT1c.3078C= (p.Val1026=)
c.2985C= (p.Val995=)
c.3118C= (n.3118C=)
c.972C= (p.Val324=)
c.1935C= (p.Val645=)
c.765C=
n.604C=
c.3069C= (p.Val1023=)
c.3060C= (p.Val1020=)
c.3087C= (p.Val1029=)
c.3084C= (p.Val1028=)
c.3066C= (p.Val1022=)
c.3009C= (p.Val1003=)
c.2943C= (p.Val981=)
c.1509C= (p.Val503=)
c.861C= (p.Val287=)
c.648C= (p.Val216=)
c.2922C= (p.Val974=)
c.3057C= (p.Val1019=)
c.3063C= (p.Val1021=)
c.2979C= (p.Val993=)
c.2964C= (p.Val988=)
c.2907C= (p.Val969=)
c.2841C= (p.Val947=)
c.2202C= (p.Val734=)
c.2820C= (p.Val940=)
9g.137813428C>GCA468161421EHMT1c.3078C>G (p.Val1026=)
c.2985C>G (p.Val995=)
c.3118C>G (n.3118C>G)
c.972C>G (p.Val324=)
c.1935C>G (p.Val645=)
c.765C>G
n.604C>G
c.3069C>G (p.Val1023=)
c.3060C>G (p.Val1020=)
c.3087C>G (p.Val1029=)
c.3084C>G (p.Val1028=)
c.3066C>G (p.Val1022=)
c.3009C>G (p.Val1003=)
c.2943C>G (p.Val981=)
c.1509C>G (p.Val503=)
c.861C>G (p.Val287=)
c.648C>G (p.Val216=)
c.2922C>G (p.Val974=)
c.3057C>G (p.Val1019=)
c.3063C>G (p.Val1021=)
c.2979C>G (p.Val993=)
c.2964C>G (p.Val988=)
c.2907C>G (p.Val969=)
c.2841C>G (p.Val947=)
c.2202C>G (p.Val734=)
c.2820C>G (p.Val940=)
9g.137813428C>TCA468161422EHMT1c.3078C>T (p.Val1026=)
c.2985C>T (p.Val995=)
c.3118C>T (n.3118C>T)
c.972C>T (p.Val324=)
c.1935C>T (p.Val645=)
c.765C>T
n.604C>T
c.3069C>T (p.Val1023=)
c.3060C>T (p.Val1020=)
c.3087C>T (p.Val1029=)
c.3084C>T (p.Val1028=)
c.3066C>T (p.Val1022=)
c.3009C>T (p.Val1003=)
c.2943C>T (p.Val981=)
c.1509C>T (p.Val503=)
c.861C>T (p.Val287=)
c.648C>T (p.Val216=)
c.2922C>T (p.Val974=)
c.3057C>T (p.Val1019=)
c.3063C>T (p.Val1021=)
c.2979C>T (p.Val993=)
c.2964C>T (p.Val988=)
c.2907C>T (p.Val969=)
c.2841C>T (p.Val947=)
c.2202C>T (p.Val734=)
c.2820C>T (p.Val940=)
 dbSNP
9g.137813429A>CCA375793976EHMT1c.3079A>C (p.Asn1027His)
c.2986A>C (p.Asn996His)
c.3119A>C (n.3119A>C)
c.973A>C (p.Asn325His)
c.1936A>C (p.Asn646His)
c.766A>C
n.605A>C
c.3070A>C (p.Asn1024His)
c.3061A>C (p.Asn1021His)
c.3088A>C (p.Asn1030His)
c.3085A>C (p.Asn1029His)
c.3067A>C (p.Asn1023His)
c.3010A>C (p.Asn1004His)
c.2944A>C (p.Asn982His)
c.1510A>C (p.Asn504His)
c.862A>C (p.Asn288His)
c.649A>C (p.Asn217His)
c.2923A>C (p.Asn975His)
c.3058A>C (p.Asn1020His)
c.3064A>C (p.Asn1022His)
c.2980A>C (p.Asn994His)
c.2965A>C (p.Asn989His)
c.2908A>C (p.Asn970His)
c.2842A>C (p.Asn948His)
c.2203A>C (p.Asn735His)
c.2821A>C (p.Asn941His)
9g.137813429A>GCA375793979EHMT1c.3079A>G (p.Asn1027Asp)
c.2986A>G (p.Asn996Asp)
c.3119A>G (n.3119A>G)
c.973A>G (p.Asn325Asp)
c.1936A>G (p.Asn646Asp)
c.766A>G
n.605A>G
c.3070A>G (p.Asn1024Asp)
c.3061A>G (p.Asn1021Asp)
c.3088A>G (p.Asn1030Asp)
c.3085A>G (p.Asn1029Asp)
c.3067A>G (p.Asn1023Asp)
c.3010A>G (p.Asn1004Asp)
c.2944A>G (p.Asn982Asp)
c.1510A>G (p.Asn504Asp)
c.862A>G (p.Asn288Asp)
c.649A>G (p.Asn217Asp)
c.2923A>G (p.Asn975Asp)
c.3058A>G (p.Asn1020Asp)
c.3064A>G (p.Asn1022Asp)
c.2980A>G (p.Asn994Asp)
c.2965A>G (p.Asn989Asp)
c.2908A>G (p.Asn970Asp)
c.2842A>G (p.Asn948Asp)
c.2203A>G (p.Asn735Asp)
c.2821A>G (p.Asn941Asp)
9g.137813429A>TCA375793982EHMT1c.3079A>T (p.Asn1027Tyr)
c.2986A>T (p.Asn996Tyr)
c.3119A>T (n.3119A>T)
c.973A>T (p.Asn325Tyr)
c.1936A>T (p.Asn646Tyr)
c.766A>T
n.605A>T
c.3070A>T (p.Asn1024Tyr)
c.3061A>T (p.Asn1021Tyr)
c.3088A>T (p.Asn1030Tyr)
c.3085A>T (p.Asn1029Tyr)
c.3067A>T (p.Asn1023Tyr)
c.3010A>T (p.Asn1004Tyr)
c.2944A>T (p.Asn982Tyr)
c.1510A>T (p.Asn504Tyr)
c.862A>T (p.Asn288Tyr)
c.649A>T (p.Asn217Tyr)
c.2923A>T (p.Asn975Tyr)
c.3058A>T (p.Asn1020Tyr)
c.3064A>T (p.Asn1022Tyr)
c.2980A>T (p.Asn994Tyr)
c.2965A>T (p.Asn989Tyr)
c.2908A>T (p.Asn970Tyr)
c.2842A>T (p.Asn948Tyr)
c.2203A>T (p.Asn735Tyr)
c.2821A>T (p.Asn941Tyr)
9g.137813430A=CA1884685884EHMT1c.3080A= (p.Asn1027=)
c.2987A= (p.Asn996=)
c.3120A= (n.3120A=)
c.974A= (p.Asn325=)
c.1937A= (p.Asn646=)
c.767A=
n.606A=
c.3071A= (p.Asn1024=)
c.3062A= (p.Asn1021=)
c.3089A= (p.Asn1030=)
c.3086A= (p.Asn1029=)
c.3068A= (p.Asn1023=)
c.3011A= (p.Asn1004=)
c.2945A= (p.Asn982=)
c.1511A= (p.Asn504=)
c.863A= (p.Asn288=)
c.650A= (p.Asn217=)
c.2924A= (p.Asn975=)
c.3059A= (p.Asn1020=)
c.3065A= (p.Asn1022=)
c.2981A= (p.Asn994=)
c.2966A= (p.Asn989=)
c.2909A= (p.Asn970=)
c.2843A= (p.Asn948=)
c.2204A= (p.Asn735=)
c.2822A= (p.Asn941=)
9g.137813430A>CCA375793983EHMT1c.3080A>C (p.Asn1027Thr)
c.2987A>C (p.Asn996Thr)
c.3120A>C (n.3120A>C)
c.974A>C (p.Asn325Thr)
c.1937A>C (p.Asn646Thr)
c.767A>C
n.606A>C
c.3071A>C (p.Asn1024Thr)
c.3062A>C (p.Asn1021Thr)
c.3089A>C (p.Asn1030Thr)
c.3086A>C (p.Asn1029Thr)
c.3068A>C (p.Asn1023Thr)
c.3011A>C (p.Asn1004Thr)
c.2945A>C (p.Asn982Thr)
c.1511A>C (p.Asn504Thr)
c.863A>C (p.Asn288Thr)
c.650A>C (p.Asn217Thr)
c.2924A>C (p.Asn975Thr)
c.3059A>C (p.Asn1020Thr)
c.3065A>C (p.Asn1022Thr)
c.2981A>C (p.Asn994Thr)
c.2966A>C (p.Asn989Thr)
c.2909A>C (p.Asn970Thr)
c.2843A>C (p.Asn948Thr)
c.2204A>C (p.Asn735Thr)
c.2822A>C (p.Asn941Thr)
9g.137813430A>GCA375793985EHMT1c.3080A>G (p.Asn1027Ser)
c.2987A>G (p.Asn996Ser)
c.3120A>G (n.3120A>G)
c.974A>G (p.Asn325Ser)
c.1937A>G (p.Asn646Ser)
c.767A>G
n.606A>G
c.3071A>G (p.Asn1024Ser)
c.3062A>G (p.Asn1021Ser)
c.3089A>G (p.Asn1030Ser)
c.3086A>G (p.Asn1029Ser)
c.3068A>G (p.Asn1023Ser)
c.3011A>G (p.Asn1004Ser)
c.2945A>G (p.Asn982Ser)
c.1511A>G (p.Asn504Ser)
c.863A>G (p.Asn288Ser)
c.650A>G (p.Asn217Ser)
c.2924A>G (p.Asn975Ser)
c.3059A>G (p.Asn1020Ser)
c.3065A>G (p.Asn1022Ser)
c.2981A>G (p.Asn994Ser)
c.2966A>G (p.Asn989Ser)
c.2909A>G (p.Asn970Ser)
c.2843A>G (p.Asn948Ser)
c.2204A>G (p.Asn735Ser)
c.2822A>G (p.Asn941Ser)
 dbSNP gnomAD v2
9g.137813430A>TCA375793988EHMT1c.3080A>T (p.Asn1027Ile)
c.2987A>T (p.Asn996Ile)
c.3120A>T (n.3120A>T)
c.974A>T (p.Asn325Ile)
c.1937A>T (p.Asn646Ile)
c.767A>T
n.606A>T
c.3071A>T (p.Asn1024Ile)
c.3062A>T (p.Asn1021Ile)
c.3089A>T (p.Asn1030Ile)
c.3086A>T (p.Asn1029Ile)
c.3068A>T (p.Asn1023Ile)
c.3011A>T (p.Asn1004Ile)
c.2945A>T (p.Asn982Ile)
c.1511A>T (p.Asn504Ile)
c.863A>T (p.Asn288Ile)
c.650A>T (p.Asn217Ile)
c.2924A>T (p.Asn975Ile)
c.3059A>T (p.Asn1020Ile)
c.3065A>T (p.Asn1022Ile)
c.2981A>T (p.Asn994Ile)
c.2966A>T (p.Asn989Ile)
c.2909A>T (p.Asn970Ile)
c.2843A>T (p.Asn948Ile)
c.2204A>T (p.Asn735Ile)
c.2822A>T (p.Asn941Ile)
9g.137813431C>ACA375793992EHMT1c.3081C>A (p.Asn1027Lys)
c.2988C>A (p.Asn996Lys)
c.3121C>A (n.3121C>A)
c.975C>A (p.Asn325Lys)
c.1938C>A (p.Asn646Lys)
c.768C>A
n.607C>A
c.3072C>A (p.Asn1024Lys)
c.3063C>A (p.Asn1021Lys)
c.3090C>A (p.Asn1030Lys)
c.3087C>A (p.Asn1029Lys)
c.3069C>A (p.Asn1023Lys)
c.3012C>A (p.Asn1004Lys)
c.2946C>A (p.Asn982Lys)
c.1512C>A (p.Asn504Lys)
c.864C>A (p.Asn288Lys)
c.651C>A (p.Asn217Lys)
c.2925C>A (p.Asn975Lys)
c.3060C>A (p.Asn1020Lys)
c.3066C>A (p.Asn1022Lys)
c.2982C>A (p.Asn994Lys)
c.2967C>A (p.Asn989Lys)
c.2910C>A (p.Asn970Lys)
c.2844C>A (p.Asn948Lys)
c.2205C>A (p.Asn735Lys)
c.2823C>A (p.Asn941Lys)
9g.137813431C=CA1884685885EHMT1c.3081C= (p.Asn1027=)
c.2988C= (p.Asn996=)
c.3121C= (n.3121C=)
c.975C= (p.Asn325=)
c.1938C= (p.Asn646=)
c.768C=
n.607C=
c.3072C= (p.Asn1024=)
c.3063C= (p.Asn1021=)
c.3090C= (p.Asn1030=)
c.3087C= (p.Asn1029=)
c.3069C= (p.Asn1023=)
c.3012C= (p.Asn1004=)
c.2946C= (p.Asn982=)
c.1512C= (p.Asn504=)
c.864C= (p.Asn288=)
c.651C= (p.Asn217=)
c.2925C= (p.Asn975=)
c.3060C= (p.Asn1020=)
c.3066C= (p.Asn1022=)
c.2982C= (p.Asn994=)
c.2967C= (p.Asn989=)
c.2910C= (p.Asn970=)
c.2844C= (p.Asn948=)
c.2205C= (p.Asn735=)
c.2823C= (p.Asn941=)
9g.137813431C>GCA375793991EHMT1c.3081C>G (p.Asn1027Lys)
c.2988C>G (p.Asn996Lys)
c.3121C>G (n.3121C>G)
c.975C>G (p.Asn325Lys)
c.1938C>G (p.Asn646Lys)
c.768C>G
n.607C>G
c.3072C>G (p.Asn1024Lys)
c.3063C>G (p.Asn1021Lys)
c.3090C>G (p.Asn1030Lys)
c.3087C>G (p.Asn1029Lys)
c.3069C>G (p.Asn1023Lys)
c.3012C>G (p.Asn1004Lys)
c.2946C>G (p.Asn982Lys)
c.1512C>G (p.Asn504Lys)
c.864C>G (p.Asn288Lys)
c.651C>G (p.Asn217Lys)
c.2925C>G (p.Asn975Lys)
c.3060C>G (p.Asn1020Lys)
c.3066C>G (p.Asn1022Lys)
c.2982C>G (p.Asn994Lys)
c.2967C>G (p.Asn989Lys)
c.2910C>G (p.Asn970Lys)
c.2844C>G (p.Asn948Lys)
c.2205C>G (p.Asn735Lys)
c.2823C>G (p.Asn941Lys)
9g.137813431C>TCA242094EHMT1c.3081C>T (p.Asn1027=)
c.2988C>T (p.Asn996=)
c.3121C>T (n.3121C>T)
c.975C>T (p.Asn325=)
c.1938C>T (p.Asn646=)
c.768C>T
n.607C>T
c.3072C>T (p.Asn1024=)
c.3063C>T (p.Asn1021=)
c.3090C>T (p.Asn1030=)
c.3087C>T (p.Asn1029=)
c.3069C>T (p.Asn1023=)
c.3012C>T (p.Asn1004=)
c.2946C>T (p.Asn982=)
c.1512C>T (p.Asn504=)
c.864C>T (p.Asn288=)
c.651C>T (p.Asn217=)
c.2925C>T (p.Asn975=)
c.3060C>T (p.Asn1020=)
c.3066C>T (p.Asn1022=)
c.2982C>T (p.Asn994=)
c.2967C>T (p.Asn989=)
c.2910C>T (p.Asn970=)
c.2844C>T (p.Asn948=)
c.2205C>T (p.Asn735=)
c.2823C>T (p.Asn941=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137813432G>ACA5375162EHMT1c.3082G>A (p.Ala1028Thr)
c.2989G>A (p.Ala997Thr)
c.3122G>A (n.3122G>A)
c.976G>A (p.Ala326Thr)
c.1939G>A (p.Ala647Thr)
c.769G>A
n.608G>A
c.3073G>A (p.Ala1025Thr)
c.3064G>A (p.Ala1022Thr)
c.3091G>A (p.Ala1031Thr)
c.3088G>A (p.Ala1030Thr)
c.3070G>A (p.Ala1024Thr)
c.3013G>A (p.Ala1005Thr)
c.2947G>A (p.Ala983Thr)
c.1513G>A (p.Ala505Thr)
c.865G>A (p.Ala289Thr)
c.652G>A (p.Ala218Thr)
c.2926G>A (p.Ala976Thr)
c.3061G>A (p.Ala1021Thr)
c.3067G>A (p.Ala1023Thr)
c.2983G>A (p.Ala995Thr)
c.2968G>A (p.Ala990Thr)
c.2911G>A (p.Ala971Thr)
c.2845G>A (p.Ala949Thr)
c.2206G>A (p.Ala736Thr)
c.2824G>A (p.Ala942Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813432G>CCA375793997EHMT1c.3082G>C (p.Ala1028Pro)
c.2989G>C (p.Ala997Pro)
c.3122G>C (n.3122G>C)
c.976G>C (p.Ala326Pro)
c.1939G>C (p.Ala647Pro)
c.769G>C
n.608G>C
c.3073G>C (p.Ala1025Pro)
c.3064G>C (p.Ala1022Pro)
c.3091G>C (p.Ala1031Pro)
c.3088G>C (p.Ala1030Pro)
c.3070G>C (p.Ala1024Pro)
c.3013G>C (p.Ala1005Pro)
c.2947G>C (p.Ala983Pro)
c.1513G>C (p.Ala505Pro)
c.865G>C (p.Ala289Pro)
c.652G>C (p.Ala218Pro)
c.2926G>C (p.Ala976Pro)
c.3061G>C (p.Ala1021Pro)
c.3067G>C (p.Ala1023Pro)
c.2983G>C (p.Ala995Pro)
c.2968G>C (p.Ala990Pro)
c.2911G>C (p.Ala971Pro)
c.2845G>C (p.Ala949Pro)
c.2206G>C (p.Ala736Pro)
c.2824G>C (p.Ala942Pro)
9g.137813432G=CA1884685886EHMT1c.3082G= (p.Ala1028=)
c.2989G= (p.Ala997=)
c.3122G= (n.3122G=)
c.976G= (p.Ala326=)
c.1939G= (p.Ala647=)
c.769G=
n.608G=
c.3073G= (p.Ala1025=)
c.3064G= (p.Ala1022=)
c.3091G= (p.Ala1031=)
c.3088G= (p.Ala1030=)
c.3070G= (p.Ala1024=)
c.3013G= (p.Ala1005=)
c.2947G= (p.Ala983=)
c.1513G= (p.Ala505=)
c.865G= (p.Ala289=)
c.652G= (p.Ala218=)
c.2926G= (p.Ala976=)
c.3061G= (p.Ala1021=)
c.3067G= (p.Ala1023=)
c.2983G= (p.Ala995=)
c.2968G= (p.Ala990=)
c.2911G= (p.Ala971=)
c.2845G= (p.Ala949=)
c.2206G= (p.Ala736=)
c.2824G= (p.Ala942=)
9g.137813432G>TCA375793998EHMT1c.3082G>T (p.Ala1028Ser)
c.2989G>T (p.Ala997Ser)
c.3122G>T (n.3122G>T)
c.976G>T (p.Ala326Ser)
c.1939G>T (p.Ala647Ser)
c.769G>T
n.608G>T
c.3073G>T (p.Ala1025Ser)
c.3064G>T (p.Ala1022Ser)
c.3091G>T (p.Ala1031Ser)
c.3088G>T (p.Ala1030Ser)
c.3070G>T (p.Ala1024Ser)
c.3013G>T (p.Ala1005Ser)
c.2947G>T (p.Ala983Ser)
c.1513G>T (p.Ala505Ser)
c.865G>T (p.Ala289Ser)
c.652G>T (p.Ala218Ser)
c.2926G>T (p.Ala976Ser)
c.3061G>T (p.Ala1021Ser)
c.3067G>T (p.Ala1023Ser)
c.2983G>T (p.Ala995Ser)
c.2968G>T (p.Ala990Ser)
c.2911G>T (p.Ala971Ser)
c.2845G>T (p.Ala949Ser)
c.2206G>T (p.Ala736Ser)
c.2824G>T (p.Ala942Ser)
 ClinVar
9g.137813433C>ACA375794000EHMT1c.3083C>A (p.Ala1028Asp)
c.2990C>A (p.Ala997Asp)
c.3123C>A (n.3123C>A)
c.977C>A (p.Ala326Asp)
c.1940C>A (p.Ala647Asp)
c.770C>A
n.609C>A
c.3074C>A (p.Ala1025Asp)
c.3065C>A (p.Ala1022Asp)
c.3092C>A (p.Ala1031Asp)
c.3089C>A (p.Ala1030Asp)
c.3071C>A (p.Ala1024Asp)
c.3014C>A (p.Ala1005Asp)
c.2948C>A (p.Ala983Asp)
c.1514C>A (p.Ala505Asp)
c.866C>A (p.Ala289Asp)
c.653C>A (p.Ala218Asp)
c.2927C>A (p.Ala976Asp)
c.3062C>A (p.Ala1021Asp)
c.3068C>A (p.Ala1023Asp)
c.2984C>A (p.Ala995Asp)
c.2969C>A (p.Ala990Asp)
c.2912C>A (p.Ala971Asp)
c.2846C>A (p.Ala949Asp)
c.2207C>A (p.Ala736Asp)
c.2825C>A (p.Ala942Asp)
9g.137813433C>GCA375794002EHMT1c.3083C>G (p.Ala1028Gly)
c.2990C>G (p.Ala997Gly)
c.3123C>G (n.3123C>G)
c.977C>G (p.Ala326Gly)
c.1940C>G (p.Ala647Gly)
c.770C>G
n.609C>G
c.3074C>G (p.Ala1025Gly)
c.3065C>G (p.Ala1022Gly)
c.3092C>G (p.Ala1031Gly)
c.3089C>G (p.Ala1030Gly)
c.3071C>G (p.Ala1024Gly)
c.3014C>G (p.Ala1005Gly)
c.2948C>G (p.Ala983Gly)
c.1514C>G (p.Ala505Gly)
c.866C>G (p.Ala289Gly)
c.653C>G (p.Ala218Gly)
c.2927C>G (p.Ala976Gly)
c.3062C>G (p.Ala1021Gly)
c.3068C>G (p.Ala1023Gly)
c.2984C>G (p.Ala995Gly)
c.2969C>G (p.Ala990Gly)
c.2912C>G (p.Ala971Gly)
c.2846C>G (p.Ala949Gly)
c.2207C>G (p.Ala736Gly)
c.2825C>G (p.Ala942Gly)
9g.137813433C>TCA375794005EHMT1c.3083C>T (p.Ala1028Val)
c.2990C>T (p.Ala997Val)
c.3123C>T (n.3123C>T)
c.977C>T (p.Ala326Val)
c.1940C>T (p.Ala647Val)
c.770C>T
n.609C>T
c.3074C>T (p.Ala1025Val)
c.3065C>T (p.Ala1022Val)
c.3092C>T (p.Ala1031Val)
c.3089C>T (p.Ala1030Val)
c.3071C>T (p.Ala1024Val)
c.3014C>T (p.Ala1005Val)
c.2948C>T (p.Ala983Val)
c.1514C>T (p.Ala505Val)
c.866C>T (p.Ala289Val)
c.653C>T (p.Ala218Val)
c.2927C>T (p.Ala976Val)
c.3062C>T (p.Ala1021Val)
c.3068C>T (p.Ala1023Val)
c.2984C>T (p.Ala995Val)
c.2969C>T (p.Ala990Val)
c.2912C>T (p.Ala971Val)
c.2846C>T (p.Ala949Val)
c.2207C>T (p.Ala736Val)
c.2825C>T (p.Ala942Val)
 COSMIC COSMIC
9g.137813434C>ACA468161423EHMT1c.3084C>A (p.Ala1028=)
c.2991C>A (p.Ala997=)
c.3124C>A (n.3124C>A)
c.978C>A (p.Ala326=)
c.1941C>A (p.Ala647=)
c.771C>A
n.610C>A
c.3075C>A (p.Ala1025=)
c.3066C>A (p.Ala1022=)
c.3093C>A (p.Ala1031=)
c.3090C>A (p.Ala1030=)
c.3072C>A (p.Ala1024=)
c.3015C>A (p.Ala1005=)
c.2949C>A (p.Ala983=)
c.1515C>A (p.Ala505=)
c.867C>A (p.Ala289=)
c.654C>A (p.Ala218=)
c.2928C>A (p.Ala976=)
c.3063C>A (p.Ala1021=)
c.3069C>A (p.Ala1023=)
c.2985C>A (p.Ala995=)
c.2970C>A (p.Ala990=)
c.2913C>A (p.Ala971=)
c.2847C>A (p.Ala949=)
c.2208C>A (p.Ala736=)
c.2826C>A (p.Ala942=)
9g.137813434C=CA1884685887EHMT1c.3084C= (p.Ala1028=)
c.2991C= (p.Ala997=)
c.3124C= (n.3124C=)
c.978C= (p.Ala326=)
c.1941C= (p.Ala647=)
c.771C=
n.610C=
c.3075C= (p.Ala1025=)
c.3066C= (p.Ala1022=)
c.3093C= (p.Ala1031=)
c.3090C= (p.Ala1030=)
c.3072C= (p.Ala1024=)
c.3015C= (p.Ala1005=)
c.2949C= (p.Ala983=)
c.1515C= (p.Ala505=)
c.867C= (p.Ala289=)
c.654C= (p.Ala218=)
c.2928C= (p.Ala976=)
c.3063C= (p.Ala1021=)
c.3069C= (p.Ala1023=)
c.2985C= (p.Ala995=)
c.2970C= (p.Ala990=)
c.2913C= (p.Ala971=)
c.2847C= (p.Ala949=)
c.2208C= (p.Ala736=)
c.2826C= (p.Ala942=)
9g.137813434C>GCA468161424EHMT1c.3084C>G (p.Ala1028=)
c.2991C>G (p.Ala997=)
c.3124C>G (n.3124C>G)
c.978C>G (p.Ala326=)
c.1941C>G (p.Ala647=)
c.771C>G
n.610C>G
c.3075C>G (p.Ala1025=)
c.3066C>G (p.Ala1022=)
c.3093C>G (p.Ala1031=)
c.3090C>G (p.Ala1030=)
c.3072C>G (p.Ala1024=)
c.3015C>G (p.Ala1005=)
c.2949C>G (p.Ala983=)
c.1515C>G (p.Ala505=)
c.867C>G (p.Ala289=)
c.654C>G (p.Ala218=)
c.2928C>G (p.Ala976=)
c.3063C>G (p.Ala1021=)
c.3069C>G (p.Ala1023=)
c.2985C>G (p.Ala995=)
c.2970C>G (p.Ala990=)
c.2913C>G (p.Ala971=)
c.2847C>G (p.Ala949=)
c.2208C>G (p.Ala736=)
c.2826C>G (p.Ala942=)
 gnomAD v4
9g.137813434C>TCA468161425EHMT1c.3084C>T (p.Ala1028=)
c.2991C>T (p.Ala997=)
c.3124C>T (n.3124C>T)
c.978C>T (p.Ala326=)
c.1941C>T (p.Ala647=)
c.771C>T
n.610C>T
c.3075C>T (p.Ala1025=)
c.3066C>T (p.Ala1022=)
c.3093C>T (p.Ala1031=)
c.3090C>T (p.Ala1030=)
c.3072C>T (p.Ala1024=)
c.3015C>T (p.Ala1005=)
c.2949C>T (p.Ala983=)
c.1515C>T (p.Ala505=)
c.867C>T (p.Ala289=)
c.654C>T (p.Ala218=)
c.2928C>T (p.Ala976=)
c.3063C>T (p.Ala1021=)
c.3069C>T (p.Ala1023=)
c.2985C>T (p.Ala995=)
c.2970C>T (p.Ala990=)
c.2913C>T (p.Ala971=)
c.2847C>T (p.Ala949=)
c.2208C>T (p.Ala736=)
c.2826C>T (p.Ala942=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813435G>ACA201843708EHMT1c.3085G>A (p.Val1029Met)
c.2992G>A (p.Val998Met)
c.3125G>A (n.3125G>A)
c.979G>A (p.Val327Met)
c.1942G>A (p.Val648Met)
c.772G>A
n.611G>A
c.3076G>A (p.Val1026Met)
c.3067G>A (p.Val1023Met)
c.3094G>A (p.Val1032Met)
c.3091G>A (p.Val1031Met)
c.3073G>A (p.Val1025Met)
c.3016G>A (p.Val1006Met)
c.2950G>A (p.Val984Met)
c.1516G>A (p.Val506Met)
c.868G>A (p.Val290Met)
c.655G>A (p.Val219Met)
c.2929G>A (p.Val977Met)
c.3064G>A (p.Val1022Met)
c.3070G>A (p.Val1024Met)
c.2986G>A (p.Val996Met)
c.2971G>A (p.Val991Met)
c.2914G>A (p.Val972Met)
c.2848G>A (p.Val950Met)
c.2209G>A (p.Val737Met)
c.2827G>A (p.Val943Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137813435G>CCA375794006EHMT1c.3085G>C (p.Val1029Leu)
c.2992G>C (p.Val998Leu)
c.3125G>C (n.3125G>C)
c.979G>C (p.Val327Leu)
c.1942G>C (p.Val648Leu)
c.772G>C
n.611G>C
c.3076G>C (p.Val1026Leu)
c.3067G>C (p.Val1023Leu)
c.3094G>C (p.Val1032Leu)
c.3091G>C (p.Val1031Leu)
c.3073G>C (p.Val1025Leu)
c.3016G>C (p.Val1006Leu)
c.2950G>C (p.Val984Leu)
c.1516G>C (p.Val506Leu)
c.868G>C (p.Val290Leu)
c.655G>C (p.Val219Leu)
c.2929G>C (p.Val977Leu)
c.3064G>C (p.Val1022Leu)
c.3070G>C (p.Val1024Leu)
c.2986G>C (p.Val996Leu)
c.2971G>C (p.Val991Leu)
c.2914G>C (p.Val972Leu)
c.2848G>C (p.Val950Leu)
c.2209G>C (p.Val737Leu)
c.2827G>C (p.Val943Leu)
9g.137813435G=CA1884685888EHMT1c.3085G= (p.Val1029=)
c.2992G= (p.Val998=)
c.3125G= (n.3125G=)
c.979G= (p.Val327=)
c.1942G= (p.Val648=)
c.772G=
n.611G=
c.3076G= (p.Val1026=)
c.3067G= (p.Val1023=)
c.3094G= (p.Val1032=)
c.3091G= (p.Val1031=)
c.3073G= (p.Val1025=)
c.3016G= (p.Val1006=)
c.2950G= (p.Val984=)
c.1516G= (p.Val506=)
c.868G= (p.Val290=)
c.655G= (p.Val219=)
c.2929G= (p.Val977=)
c.3064G= (p.Val1022=)
c.3070G= (p.Val1024=)
c.2986G= (p.Val996=)
c.2971G= (p.Val991=)
c.2914G= (p.Val972=)
c.2848G= (p.Val950=)
c.2209G= (p.Val737=)
c.2827G= (p.Val943=)
9g.137813435G>TCA375794009EHMT1c.3085G>T (p.Val1029Leu)
c.2992G>T (p.Val998Leu)
c.3125G>T (n.3125G>T)
c.979G>T (p.Val327Leu)
c.1942G>T (p.Val648Leu)
c.772G>T
n.611G>T
c.3076G>T (p.Val1026Leu)
c.3067G>T (p.Val1023Leu)
c.3094G>T (p.Val1032Leu)
c.3091G>T (p.Val1031Leu)
c.3073G>T (p.Val1025Leu)
c.3016G>T (p.Val1006Leu)
c.2950G>T (p.Val984Leu)
c.1516G>T (p.Val506Leu)
c.868G>T (p.Val290Leu)
c.655G>T (p.Val219Leu)
c.2929G>T (p.Val977Leu)
c.3064G>T (p.Val1022Leu)
c.3070G>T (p.Val1024Leu)
c.2986G>T (p.Val996Leu)
c.2971G>T (p.Val991Leu)
c.2914G>T (p.Val972Leu)
c.2848G>T (p.Val950Leu)
c.2209G>T (p.Val737Leu)
c.2827G>T (p.Val943Leu)
 gnomAD v4
9g.137813436T>ACA375794012EHMT1c.3086T>A (p.Val1029Glu)
c.2993T>A (p.Val998Glu)
c.3126T>A (n.3126T>A)
c.980T>A (p.Val327Glu)
c.1943T>A (p.Val648Glu)
c.773T>A
n.612T>A
c.3077T>A (p.Val1026Glu)
c.3068T>A (p.Val1023Glu)
c.3095T>A (p.Val1032Glu)
c.3092T>A (p.Val1031Glu)
c.3074T>A (p.Val1025Glu)
c.3017T>A (p.Val1006Glu)
c.2951T>A (p.Val984Glu)
c.1517T>A (p.Val506Glu)
c.869T>A (p.Val290Glu)
c.656T>A (p.Val219Glu)
c.2930T>A (p.Val977Glu)
c.3065T>A (p.Val1022Glu)
c.3071T>A (p.Val1024Glu)
c.2987T>A (p.Val996Glu)
c.2972T>A (p.Val991Glu)
c.2915T>A (p.Val972Glu)
c.2849T>A (p.Val950Glu)
c.2210T>A (p.Val737Glu)
c.2828T>A (p.Val943Glu)
9g.137813436T>CCA375794013EHMT1c.3086T>C (p.Val1029Ala)
c.2993T>C (p.Val998Ala)
c.3126T>C (n.3126T>C)
c.980T>C (p.Val327Ala)
c.1943T>C (p.Val648Ala)
c.773T>C
n.612T>C
c.3077T>C (p.Val1026Ala)
c.3068T>C (p.Val1023Ala)
c.3095T>C (p.Val1032Ala)
c.3092T>C (p.Val1031Ala)
c.3074T>C (p.Val1025Ala)
c.3017T>C (p.Val1006Ala)
c.2951T>C (p.Val984Ala)
c.1517T>C (p.Val506Ala)
c.869T>C (p.Val290Ala)
c.656T>C (p.Val219Ala)
c.2930T>C (p.Val977Ala)
c.3065T>C (p.Val1022Ala)
c.3071T>C (p.Val1024Ala)
c.2987T>C (p.Val996Ala)
c.2972T>C (p.Val991Ala)
c.2915T>C (p.Val972Ala)
c.2849T>C (p.Val950Ala)
c.2210T>C (p.Val737Ala)
c.2828T>C (p.Val943Ala)
9g.137813436T>GCA375794014EHMT1c.3086T>G (p.Val1029Gly)
c.2993T>G (p.Val998Gly)
c.3126T>G (n.3126T>G)
c.980T>G (p.Val327Gly)
c.1943T>G (p.Val648Gly)
c.773T>G
n.612T>G
c.3077T>G (p.Val1026Gly)
c.3068T>G (p.Val1023Gly)
c.3095T>G (p.Val1032Gly)
c.3092T>G (p.Val1031Gly)
c.3074T>G (p.Val1025Gly)
c.3017T>G (p.Val1006Gly)
c.2951T>G (p.Val984Gly)
c.1517T>G (p.Val506Gly)
c.869T>G (p.Val290Gly)
c.656T>G (p.Val219Gly)
c.2930T>G (p.Val977Gly)
c.3065T>G (p.Val1022Gly)
c.3071T>G (p.Val1024Gly)
c.2987T>G (p.Val996Gly)
c.2972T>G (p.Val991Gly)
c.2915T>G (p.Val972Gly)
c.2849T>G (p.Val950Gly)
c.2210T>G (p.Val737Gly)
c.2828T>G (p.Val943Gly)
9g.137813437G>ACA152702EHMT1c.3087G>A (p.Val1029=)
c.2994G>A (p.Val998=)
c.3127G>A (n.3127G>A)
c.981G>A (p.Val327=)
c.1944G>A (p.Val648=)
c.774G>A
n.613G>A
c.3078G>A (p.Val1026=)
c.3069G>A (p.Val1023=)
c.3096G>A (p.Val1032=)
c.3093G>A (p.Val1031=)
c.3075G>A (p.Val1025=)
c.3018G>A (p.Val1006=)
c.2952G>A (p.Val984=)
c.1518G>A (p.Val506=)
c.870G>A (p.Val290=)
c.657G>A (p.Val219=)
c.2931G>A (p.Val977=)
c.3066G>A (p.Val1022=)
c.3072G>A (p.Val1024=)
c.2988G>A (p.Val996=)
c.2973G>A (p.Val991=)
c.2916G>A (p.Val972=)
c.2850G>A (p.Val950=)
c.2211G>A (p.Val737=)
c.2829G>A (p.Val943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813437G>CCA468161427EHMT1c.3087G>C (p.Val1029=)
c.2994G>C (p.Val998=)
c.3127G>C (n.3127G>C)
c.981G>C (p.Val327=)
c.1944G>C (p.Val648=)
c.774G>C
n.613G>C
c.3078G>C (p.Val1026=)
c.3069G>C (p.Val1023=)
c.3096G>C (p.Val1032=)
c.3093G>C (p.Val1031=)
c.3075G>C (p.Val1025=)
c.3018G>C (p.Val1006=)
c.2952G>C (p.Val984=)
c.1518G>C (p.Val506=)
c.870G>C (p.Val290=)
c.657G>C (p.Val219=)
c.2931G>C (p.Val977=)
c.3066G>C (p.Val1022=)
c.3072G>C (p.Val1024=)
c.2988G>C (p.Val996=)
c.2973G>C (p.Val991=)
c.2916G>C (p.Val972=)
c.2850G>C (p.Val950=)
c.2211G>C (p.Val737=)
c.2829G>C (p.Val943=)
 dbSNP
9g.137813437G=CA1884685889EHMT1c.3087G= (p.Val1029=)
c.2994G= (p.Val998=)
c.3127G= (n.3127G=)
c.981G= (p.Val327=)
c.1944G= (p.Val648=)
c.774G=
n.613G=
c.3078G= (p.Val1026=)
c.3069G= (p.Val1023=)
c.3096G= (p.Val1032=)
c.3093G= (p.Val1031=)
c.3075G= (p.Val1025=)
c.3018G= (p.Val1006=)
c.2952G= (p.Val984=)
c.1518G= (p.Val506=)
c.870G= (p.Val290=)
c.657G= (p.Val219=)
c.2931G= (p.Val977=)
c.3066G= (p.Val1022=)
c.3072G= (p.Val1024=)
c.2988G= (p.Val996=)
c.2973G= (p.Val991=)
c.2916G= (p.Val972=)
c.2850G= (p.Val950=)
c.2211G= (p.Val737=)
c.2829G= (p.Val943=)
9g.137813437G>TCA468161426EHMT1c.3087G>T (p.Val1029=)
c.2994G>T (p.Val998=)
c.3127G>T (n.3127G>T)
c.981G>T (p.Val327=)
c.1944G>T (p.Val648=)
c.774G>T
n.613G>T
c.3078G>T (p.Val1026=)
c.3069G>T (p.Val1023=)
c.3096G>T (p.Val1032=)
c.3093G>T (p.Val1031=)
c.3075G>T (p.Val1025=)
c.3018G>T (p.Val1006=)
c.2952G>T (p.Val984=)
c.1518G>T (p.Val506=)
c.870G>T (p.Val290=)
c.657G>T (p.Val219=)
c.2931G>T (p.Val977=)
c.3066G>T (p.Val1022=)
c.3072G>T (p.Val1024=)
c.2988G>T (p.Val996=)
c.2973G>T (p.Val991=)
c.2916G>T (p.Val972=)
c.2850G>T (p.Val950=)
c.2211G>T (p.Val737=)
c.2829G>T (p.Val943=)
 dbSNP
9g.137813438G>ACA375794017EHMT1c.3088G>A (p.Asp1030Asn)
c.2995G>A (p.Asp999Asn)
c.3128G>A (n.3128G>A)
c.982G>A (p.Asp328Asn)
c.1945G>A (p.Asp649Asn)
c.775G>A
n.614G>A
c.3079G>A (p.Asp1027Asn)
c.3070G>A (p.Asp1024Asn)
c.3097G>A (p.Asp1033Asn)
c.3094G>A (p.Asp1032Asn)
c.3076G>A (p.Asp1026Asn)
c.3019G>A (p.Asp1007Asn)
c.2953G>A (p.Asp985Asn)
c.1519G>A (p.Asp507Asn)
c.871G>A (p.Asp291Asn)
c.658G>A (p.Asp220Asn)
c.2932G>A (p.Asp978Asn)
c.3067G>A (p.Asp1023Asn)
c.3073G>A (p.Asp1025Asn)
c.2989G>A (p.Asp997Asn)
c.2974G>A (p.Asp992Asn)
c.2917G>A (p.Asp973Asn)
c.2851G>A (p.Asp951Asn)
c.2212G>A (p.Asp738Asn)
c.2830G>A (p.Asp944Asn)
9g.137813438G>CCA375794015EHMT1c.3088G>C (p.Asp1030His)
c.2995G>C (p.Asp999His)
c.3128G>C (n.3128G>C)
c.982G>C (p.Asp328His)
c.1945G>C (p.Asp649His)
c.775G>C
n.614G>C
c.3079G>C (p.Asp1027His)
c.3070G>C (p.Asp1024His)
c.3097G>C (p.Asp1033His)
c.3094G>C (p.Asp1032His)
c.3076G>C (p.Asp1026His)
c.3019G>C (p.Asp1007His)
c.2953G>C (p.Asp985His)
c.1519G>C (p.Asp507His)
c.871G>C (p.Asp291His)
c.658G>C (p.Asp220His)
c.2932G>C (p.Asp978His)
c.3067G>C (p.Asp1023His)
c.3073G>C (p.Asp1025His)
c.2989G>C (p.Asp997His)
c.2974G>C (p.Asp992His)
c.2917G>C (p.Asp973His)
c.2851G>C (p.Asp951His)
c.2212G>C (p.Asp738His)
c.2830G>C (p.Asp944His)
9g.137813438G>TCA375794016EHMT1c.3088G>T (p.Asp1030Tyr)
c.2995G>T (p.Asp999Tyr)
c.3128G>T (n.3128G>T)
c.982G>T (p.Asp328Tyr)
c.1945G>T (p.Asp649Tyr)
c.775G>T
n.614G>T
c.3079G>T (p.Asp1027Tyr)
c.3070G>T (p.Asp1024Tyr)
c.3097G>T (p.Asp1033Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3076G>T (p.Asp1026Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2953G>T (p.Asp985Tyr)
c.1519G>T (p.Asp507Tyr)
c.871G>T (p.Asp291Tyr)
c.658G>T (p.Asp220Tyr)
c.2932G>T (p.Asp978Tyr)
c.3067G>T (p.Asp1023Tyr)
c.3073G>T (p.Asp1025Tyr)
c.2989G>T (p.Asp997Tyr)
c.2974G>T (p.Asp992Tyr)
c.2917G>T (p.Asp973Tyr)
c.2851G>T (p.Asp951Tyr)
c.2212G>T (p.Asp738Tyr)
c.2830G>T (p.Asp944Tyr)
9g.137813439A>CCA375794018EHMT1c.3089A>C (p.Asp1030Ala)
c.2996A>C (p.Asp999Ala)
c.3129A>C (n.3129A>C)
c.983A>C (p.Asp328Ala)
c.1946A>C (p.Asp649Ala)
c.776A>C
n.615A>C
c.3080A>C (p.Asp1027Ala)
c.3071A>C (p.Asp1024Ala)
c.3098A>C (p.Asp1033Ala)
c.3095A>C (p.Asp1032Ala)
c.3077A>C (p.Asp1026Ala)
c.3020A>C (p.Asp1007Ala)
c.2954A>C (p.Asp985Ala)
c.1520A>C (p.Asp507Ala)
c.872A>C (p.Asp291Ala)
c.659A>C (p.Asp220Ala)
c.2933A>C (p.Asp978Ala)
c.3068A>C (p.Asp1023Ala)
c.3074A>C (p.Asp1025Ala)
c.2990A>C (p.Asp997Ala)
c.2975A>C (p.Asp992Ala)
c.2918A>C (p.Asp973Ala)
c.2852A>C (p.Asp951Ala)
c.2213A>C (p.Asp738Ala)
c.2831A>C (p.Asp944Ala)
9g.137813439A>GCA375794020EHMT1c.3089A>G (p.Asp1030Gly)
c.2996A>G (p.Asp999Gly)
c.3129A>G (n.3129A>G)
c.983A>G (p.Asp328Gly)
c.1946A>G (p.Asp649Gly)
c.776A>G
n.615A>G
c.3080A>G (p.Asp1027Gly)
c.3071A>G (p.Asp1024Gly)
c.3098A>G (p.Asp1033Gly)
c.3095A>G (p.Asp1032Gly)
c.3077A>G (p.Asp1026Gly)
c.3020A>G (p.Asp1007Gly)
c.2954A>G (p.Asp985Gly)
c.1520A>G (p.Asp507Gly)
c.872A>G (p.Asp291Gly)
c.659A>G (p.Asp220Gly)
c.2933A>G (p.Asp978Gly)
c.3068A>G (p.Asp1023Gly)
c.3074A>G (p.Asp1025Gly)
c.2990A>G (p.Asp997Gly)
c.2975A>G (p.Asp992Gly)
c.2918A>G (p.Asp973Gly)
c.2852A>G (p.Asp951Gly)
c.2213A>G (p.Asp738Gly)
c.2831A>G (p.Asp944Gly)
9g.137813439A>TCA375794022EHMT1c.3089A>T (p.Asp1030Val)
c.2996A>T (p.Asp999Val)
c.3129A>T (n.3129A>T)
c.983A>T (p.Asp328Val)
c.1946A>T (p.Asp649Val)
c.776A>T
n.615A>T
c.3080A>T (p.Asp1027Val)
c.3071A>T (p.Asp1024Val)
c.3098A>T (p.Asp1033Val)
c.3095A>T (p.Asp1032Val)
c.3077A>T (p.Asp1026Val)
c.3020A>T (p.Asp1007Val)
c.2954A>T (p.Asp985Val)
c.1520A>T (p.Asp507Val)
c.872A>T (p.Asp291Val)
c.659A>T (p.Asp220Val)
c.2933A>T (p.Asp978Val)
c.3068A>T (p.Asp1023Val)
c.3074A>T (p.Asp1025Val)
c.2990A>T (p.Asp997Val)
c.2975A>T (p.Asp992Val)
c.2918A>T (p.Asp973Val)
c.2852A>T (p.Asp951Val)
c.2213A>T (p.Asp738Val)
c.2831A>T (p.Asp944Val)
9g.137813440C>ACA375794026EHMT1c.3090C>A (p.Asp1030Glu)
c.2997C>A (p.Asp999Glu)
c.3130C>A (n.3130C>A)
c.984C>A (p.Asp328Glu)
c.1947C>A (p.Asp649Glu)
c.777C>A
n.616C>A
c.3081C>A (p.Asp1027Glu)
c.3072C>A (p.Asp1024Glu)
c.3099C>A (p.Asp1033Glu)
c.3096C>A (p.Asp1032Glu)
c.3078C>A (p.Asp1026Glu)
c.3021C>A (p.Asp1007Glu)
c.2955C>A (p.Asp985Glu)
c.1521C>A (p.Asp507Glu)
c.873C>A (p.Asp291Glu)
c.660C>A (p.Asp220Glu)
c.2934C>A (p.Asp978Glu)
c.3069C>A (p.Asp1023Glu)
c.3075C>A (p.Asp1025Glu)
c.2991C>A (p.Asp997Glu)
c.2976C>A (p.Asp992Glu)
c.2919C>A (p.Asp973Glu)
c.2853C>A (p.Asp951Glu)
c.2214C>A (p.Asp738Glu)
c.2832C>A (p.Asp944Glu)
9g.137813440C>GCA375794028EHMT1c.3090C>G (p.Asp1030Glu)
c.2997C>G (p.Asp999Glu)
c.3130C>G (n.3130C>G)
c.984C>G (p.Asp328Glu)
c.1947C>G (p.Asp649Glu)
c.777C>G
n.616C>G
c.3081C>G (p.Asp1027Glu)
c.3072C>G (p.Asp1024Glu)
c.3099C>G (p.Asp1033Glu)
c.3096C>G (p.Asp1032Glu)
c.3078C>G (p.Asp1026Glu)
c.3021C>G (p.Asp1007Glu)
c.2955C>G (p.Asp985Glu)
c.1521C>G (p.Asp507Glu)
c.873C>G (p.Asp291Glu)
c.660C>G (p.Asp220Glu)
c.2934C>G (p.Asp978Glu)
c.3069C>G (p.Asp1023Glu)
c.3075C>G (p.Asp1025Glu)
c.2991C>G (p.Asp997Glu)
c.2976C>G (p.Asp992Glu)
c.2919C>G (p.Asp973Glu)
c.2853C>G (p.Asp951Glu)
c.2214C>G (p.Asp738Glu)
c.2832C>G (p.Asp944Glu)
9g.137813440C>TCA468161428EHMT1c.3090C>T (p.Asp1030=)
c.2997C>T (p.Asp999=)
c.3130C>T (n.3130C>T)
c.984C>T (p.Asp328=)
c.1947C>T (p.Asp649=)
c.777C>T
n.616C>T
c.3081C>T (p.Asp1027=)
c.3072C>T (p.Asp1024=)
c.3099C>T (p.Asp1033=)
c.3096C>T (p.Asp1032=)
c.3078C>T (p.Asp1026=)
c.3021C>T (p.Asp1007=)
c.2955C>T (p.Asp985=)
c.1521C>T (p.Asp507=)
c.873C>T (p.Asp291=)
c.660C>T (p.Asp220=)
c.2934C>T (p.Asp978=)
c.3069C>T (p.Asp1023=)
c.3075C>T (p.Asp1025=)
c.2991C>T (p.Asp997=)
c.2976C>T (p.Asp992=)
c.2919C>T (p.Asp973=)
c.2853C>T (p.Asp951=)
c.2214C>T (p.Asp738=)
c.2832C>T (p.Asp944=)
9g.137813441A>CCA375794038EHMT1c.3091A>C (p.Ser1031Arg)
c.2998A>C (p.Ser1000Arg)
c.3131A>C (n.3131A>C)
c.985A>C (p.Ser329Arg)
c.1948A>C (p.Ser650Arg)
c.778A>C
n.617A>C
c.3082A>C (p.Ser1028Arg)
c.3073A>C (p.Ser1025Arg)
c.3100A>C (p.Ser1034Arg)
c.3097A>C (p.Ser1033Arg)
c.3079A>C (p.Ser1027Arg)
c.3022A>C (p.Ser1008Arg)
c.2956A>C (p.Ser986Arg)
c.1522A>C (p.Ser508Arg)
c.874A>C (p.Ser292Arg)
c.661A>C (p.Ser221Arg)
c.2935A>C (p.Ser979Arg)
c.3070A>C (p.Ser1024Arg)
c.3076A>C (p.Ser1026Arg)
c.2992A>C (p.Ser998Arg)
c.2977A>C (p.Ser993Arg)
c.2920A>C (p.Ser974Arg)
c.2854A>C (p.Ser952Arg)
c.2215A>C (p.Ser739Arg)
c.2833A>C (p.Ser945Arg)
9g.137813441A>GCA375794036EHMT1c.3091A>G (p.Ser1031Gly)
c.2998A>G (p.Ser1000Gly)
c.3131A>G (n.3131A>G)
c.985A>G (p.Ser329Gly)
c.1948A>G (p.Ser650Gly)
c.778A>G
n.617A>G
c.3082A>G (p.Ser1028Gly)
c.3073A>G (p.Ser1025Gly)
c.3100A>G (p.Ser1034Gly)
c.3097A>G (p.Ser1033Gly)
c.3079A>G (p.Ser1027Gly)
c.3022A>G (p.Ser1008Gly)
c.2956A>G (p.Ser986Gly)
c.1522A>G (p.Ser508Gly)
c.874A>G (p.Ser292Gly)
c.661A>G (p.Ser221Gly)
c.2935A>G (p.Ser979Gly)
c.3070A>G (p.Ser1024Gly)
c.3076A>G (p.Ser1026Gly)
c.2992A>G (p.Ser998Gly)
c.2977A>G (p.Ser993Gly)
c.2920A>G (p.Ser974Gly)
c.2854A>G (p.Ser952Gly)
c.2215A>G (p.Ser739Gly)
c.2833A>G (p.Ser945Gly)
9g.137813441A>TCA375794033EHMT1c.3091A>T (p.Ser1031Cys)
c.2998A>T (p.Ser1000Cys)
c.3131A>T (n.3131A>T)
c.985A>T (p.Ser329Cys)
c.1948A>T (p.Ser650Cys)
c.778A>T
n.617A>T
c.3082A>T (p.Ser1028Cys)
c.3073A>T (p.Ser1025Cys)
c.3100A>T (p.Ser1034Cys)
c.3097A>T (p.Ser1033Cys)
c.3079A>T (p.Ser1027Cys)
c.3022A>T (p.Ser1008Cys)
c.2956A>T (p.Ser986Cys)
c.1522A>T (p.Ser508Cys)
c.874A>T (p.Ser292Cys)
c.661A>T (p.Ser221Cys)
c.2935A>T (p.Ser979Cys)
c.3070A>T (p.Ser1024Cys)
c.3076A>T (p.Ser1026Cys)
c.2992A>T (p.Ser998Cys)
c.2977A>T (p.Ser993Cys)
c.2920A>T (p.Ser974Cys)
c.2854A>T (p.Ser952Cys)
c.2215A>T (p.Ser739Cys)
c.2833A>T (p.Ser945Cys)
9g.137813442G>ACA375794041EHMT1c.3092G>A (p.Ser1031Asn)
c.2999G>A (p.Ser1000Asn)
c.3132G>A (n.3132G>A)
c.986G>A (p.Ser329Asn)
c.1949G>A (p.Ser650Asn)
c.779G>A
n.618G>A
c.3083G>A (p.Ser1028Asn)
c.3074G>A (p.Ser1025Asn)
c.3101G>A (p.Ser1034Asn)
c.3098G>A (p.Ser1033Asn)
c.3080G>A (p.Ser1027Asn)
c.3023G>A (p.Ser1008Asn)
c.2957G>A (p.Ser986Asn)
c.1523G>A (p.Ser508Asn)
c.875G>A (p.Ser292Asn)
c.662G>A (p.Ser221Asn)
c.2936G>A (p.Ser979Asn)
c.3071G>A (p.Ser1024Asn)
c.3077G>A (p.Ser1026Asn)
c.2993G>A (p.Ser998Asn)
c.2978G>A (p.Ser993Asn)
c.2921G>A (p.Ser974Asn)
c.2855G>A (p.Ser952Asn)
c.2216G>A (p.Ser739Asn)
c.2834G>A (p.Ser945Asn)
 gnomAD v4
9g.137813442G>CCA375794043EHMT1c.3092G>C (p.Ser1031Thr)
c.2999G>C (p.Ser1000Thr)
c.3132G>C (n.3132G>C)
c.986G>C (p.Ser329Thr)
c.1949G>C (p.Ser650Thr)
c.779G>C
n.618G>C
c.3083G>C (p.Ser1028Thr)
c.3074G>C (p.Ser1025Thr)
c.3101G>C (p.Ser1034Thr)
c.3098G>C (p.Ser1033Thr)
c.3080G>C (p.Ser1027Thr)
c.3023G>C (p.Ser1008Thr)
c.2957G>C (p.Ser986Thr)
c.1523G>C (p.Ser508Thr)
c.875G>C (p.Ser292Thr)
c.662G>C (p.Ser221Thr)
c.2936G>C (p.Ser979Thr)
c.3071G>C (p.Ser1024Thr)
c.3077G>C (p.Ser1026Thr)
c.2993G>C (p.Ser998Thr)
c.2978G>C (p.Ser993Thr)
c.2921G>C (p.Ser974Thr)
c.2855G>C (p.Ser952Thr)
c.2216G>C (p.Ser739Thr)
c.2834G>C (p.Ser945Thr)
9g.137813442G>TCA375794044EHMT1c.3092G>T (p.Ser1031Ile)
c.2999G>T (p.Ser1000Ile)
c.3132G>T (n.3132G>T)
c.986G>T (p.Ser329Ile)
c.1949G>T (p.Ser650Ile)
c.779G>T
n.618G>T
c.3083G>T (p.Ser1028Ile)
c.3074G>T (p.Ser1025Ile)
c.3101G>T (p.Ser1034Ile)
c.3098G>T (p.Ser1033Ile)
c.3080G>T (p.Ser1027Ile)
c.3023G>T (p.Ser1008Ile)
c.2957G>T (p.Ser986Ile)
c.1523G>T (p.Ser508Ile)
c.875G>T (p.Ser292Ile)
c.662G>T (p.Ser221Ile)
c.2936G>T (p.Ser979Ile)
c.3071G>T (p.Ser1024Ile)
c.3077G>T (p.Ser1026Ile)
c.2993G>T (p.Ser998Ile)
c.2978G>T (p.Ser993Ile)
c.2921G>T (p.Ser974Ile)
c.2855G>T (p.Ser952Ile)
c.2216G>T (p.Ser739Ile)
c.2834G>T (p.Ser945Ile)
 COSMIC COSMIC
9g.137813443C>ACA375794047EHMT1c.3093C>A (p.Ser1031Arg)
c.3000C>A (p.Ser1000Arg)
c.3133C>A (n.3133C>A)
c.987C>A (p.Ser329Arg)
c.1950C>A (p.Ser650Arg)
c.780C>A
n.619C>A
c.3084C>A (p.Ser1028Arg)
c.3075C>A (p.Ser1025Arg)
c.3102C>A (p.Ser1034Arg)
c.3099C>A (p.Ser1033Arg)
c.3081C>A (p.Ser1027Arg)
c.3024C>A (p.Ser1008Arg)
c.2958C>A (p.Ser986Arg)
c.1524C>A (p.Ser508Arg)
c.876C>A (p.Ser292Arg)
c.663C>A (p.Ser221Arg)
c.2937C>A (p.Ser979Arg)
c.3072C>A (p.Ser1024Arg)
c.3078C>A (p.Ser1026Arg)
c.2994C>A (p.Ser998Arg)
c.2979C>A (p.Ser993Arg)
c.2922C>A (p.Ser974Arg)
c.2856C>A (p.Ser952Arg)
c.2217C>A (p.Ser739Arg)
c.2835C>A (p.Ser945Arg)
9g.137813443C=CA1884685890EHMT1c.3093C= (p.Ser1031=)
c.3000C= (p.Ser1000=)
c.3133C= (n.3133C=)
c.987C= (p.Ser329=)
c.1950C= (p.Ser650=)
c.780C=
n.619C=
c.3084C= (p.Ser1028=)
c.3075C= (p.Ser1025=)
c.3102C= (p.Ser1034=)
c.3099C= (p.Ser1033=)
c.3081C= (p.Ser1027=)
c.3024C= (p.Ser1008=)
c.2958C= (p.Ser986=)
c.1524C= (p.Ser508=)
c.876C= (p.Ser292=)
c.663C= (p.Ser221=)
c.2937C= (p.Ser979=)
c.3072C= (p.Ser1024=)
c.3078C= (p.Ser1026=)
c.2994C= (p.Ser998=)
c.2979C= (p.Ser993=)
c.2922C= (p.Ser974=)
c.2856C= (p.Ser952=)
c.2217C= (p.Ser739=)
c.2835C= (p.Ser945=)
9g.137813443C>GCA375794050EHMT1c.3093C>G (p.Ser1031Arg)
c.3000C>G (p.Ser1000Arg)
c.3133C>G (n.3133C>G)
c.987C>G (p.Ser329Arg)
c.1950C>G (p.Ser650Arg)
c.780C>G
n.619C>G
c.3084C>G (p.Ser1028Arg)
c.3075C>G (p.Ser1025Arg)
c.3102C>G (p.Ser1034Arg)
c.3099C>G (p.Ser1033Arg)
c.3081C>G (p.Ser1027Arg)
c.3024C>G (p.Ser1008Arg)
c.2958C>G (p.Ser986Arg)
c.1524C>G (p.Ser508Arg)
c.876C>G (p.Ser292Arg)
c.663C>G (p.Ser221Arg)
c.2937C>G (p.Ser979Arg)
c.3072C>G (p.Ser1024Arg)
c.3078C>G (p.Ser1026Arg)
c.2994C>G (p.Ser998Arg)
c.2979C>G (p.Ser993Arg)
c.2922C>G (p.Ser974Arg)
c.2856C>G (p.Ser952Arg)
c.2217C>G (p.Ser739Arg)
c.2835C>G (p.Ser945Arg)
 dbSNP gnomAD v4
9g.137813443C>TCA5375163EHMT1c.3093C>T (p.Ser1031=)
c.3000C>T (p.Ser1000=)
c.3133C>T (n.3133C>T)
c.987C>T (p.Ser329=)
c.1950C>T (p.Ser650=)
c.780C>T
n.619C>T
c.3084C>T (p.Ser1028=)
c.3075C>T (p.Ser1025=)
c.3102C>T (p.Ser1034=)
c.3099C>T (p.Ser1033=)
c.3081C>T (p.Ser1027=)
c.3024C>T (p.Ser1008=)
c.2958C>T (p.Ser986=)
c.1524C>T (p.Ser508=)
c.876C>T (p.Ser292=)
c.663C>T (p.Ser221=)
c.2937C>T (p.Ser979=)
c.3072C>T (p.Ser1024=)
c.3078C>T (p.Ser1026=)
c.2994C>T (p.Ser998=)
c.2979C>T (p.Ser993=)
c.2922C>T (p.Ser974=)
c.2856C>T (p.Ser952=)
c.2217C>T (p.Ser739=)
c.2835C>T (p.Ser945=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813444G>ACA5375164EHMT1c.3094G>A (p.Glu1032Lys)
c.3001G>A (p.Glu1001Lys)
c.3134G>A (n.3134G>A)
c.988G>A (p.Glu330Lys)
c.1951G>A (p.Glu651Lys)
c.781G>A
n.620G>A
c.3085G>A (p.Glu1029Lys)
c.3076G>A (p.Glu1026Lys)
c.3103G>A (p.Glu1035Lys)
c.3100G>A (p.Glu1034Lys)
c.3082G>A (p.Glu1028Lys)
c.3025G>A (p.Glu1009Lys)
c.2959G>A (p.Glu987Lys)
c.1525G>A (p.Glu509Lys)
c.877G>A (p.Glu293Lys)
c.664G>A (p.Glu222Lys)
c.2938G>A (p.Glu980Lys)
c.3073G>A (p.Glu1025Lys)
c.3079G>A (p.Glu1027Lys)
c.2995G>A (p.Glu999Lys)
c.2980G>A (p.Glu994Lys)
c.2923G>A (p.Glu975Lys)
c.2857G>A (p.Glu953Lys)
c.2218G>A (p.Glu740Lys)
c.2836G>A (p.Glu946Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813444G>CCA375794053EHMT1c.3094G>C (p.Glu1032Gln)
c.3001G>C (p.Glu1001Gln)
c.3134G>C (n.3134G>C)
c.988G>C (p.Glu330Gln)
c.1951G>C (p.Glu651Gln)
c.781G>C
n.620G>C
c.3085G>C (p.Glu1029Gln)
c.3076G>C (p.Glu1026Gln)
c.3103G>C (p.Glu1035Gln)
c.3100G>C (p.Glu1034Gln)
c.3082G>C (p.Glu1028Gln)
c.3025G>C (p.Glu1009Gln)
c.2959G>C (p.Glu987Gln)
c.1525G>C (p.Glu509Gln)
c.877G>C (p.Glu293Gln)
c.664G>C (p.Glu222Gln)
c.2938G>C (p.Glu980Gln)
c.3073G>C (p.Glu1025Gln)
c.3079G>C (p.Glu1027Gln)
c.2995G>C (p.Glu999Gln)
c.2980G>C (p.Glu994Gln)
c.2923G>C (p.Glu975Gln)
c.2857G>C (p.Glu953Gln)
c.2218G>C (p.Glu740Gln)
c.2836G>C (p.Glu946Gln)
9g.137813444G=CA1884685891EHMT1c.3094G= (p.Glu1032=)
c.3001G= (p.Glu1001=)
c.3134G= (n.3134G=)
c.988G= (p.Glu330=)
c.1951G= (p.Glu651=)
c.781G=
n.620G=
c.3085G= (p.Glu1029=)
c.3076G= (p.Glu1026=)
c.3103G= (p.Glu1035=)
c.3100G= (p.Glu1034=)
c.3082G= (p.Glu1028=)
c.3025G= (p.Glu1009=)
c.2959G= (p.Glu987=)
c.1525G= (p.Glu509=)
c.877G= (p.Glu293=)
c.664G= (p.Glu222=)
c.2938G= (p.Glu980=)
c.3073G= (p.Glu1025=)
c.3079G= (p.Glu1027=)
c.2995G= (p.Glu999=)
c.2980G= (p.Glu994=)
c.2923G= (p.Glu975=)
c.2857G= (p.Glu953=)
c.2218G= (p.Glu740=)
c.2836G= (p.Glu946=)
9g.137813444G>TCA375794062EHMT1c.3094G>T (p.Glu1032Ter)
c.3001G>T (p.Glu1001Ter)
c.3134G>T (n.3134G>T)
c.988G>T (p.Glu330Ter)
c.1951G>T (p.Glu651Ter)
c.781G>T
n.620G>T
c.3085G>T (p.Glu1029Ter)
c.3076G>T (p.Glu1026Ter)
c.3103G>T (p.Glu1035Ter)
c.3100G>T (p.Glu1034Ter)
c.3082G>T (p.Glu1028Ter)
c.3025G>T (p.Glu1009Ter)
c.2959G>T (p.Glu987Ter)
c.1525G>T (p.Glu509Ter)
c.877G>T (p.Glu293Ter)
c.664G>T (p.Glu222Ter)
c.2938G>T (p.Glu980Ter)
c.3073G>T (p.Glu1025Ter)
c.3079G>T (p.Glu1027Ter)
c.2995G>T (p.Glu999Ter)
c.2980G>T (p.Glu994Ter)
c.2923G>T (p.Glu975Ter)
c.2857G>T (p.Glu953Ter)
c.2218G>T (p.Glu740Ter)
c.2836G>T (p.Glu946Ter)
9g.137813445A>CCA375794065EHMT1c.3095A>C (p.Glu1032Ala)
c.3002A>C (p.Glu1001Ala)
c.3135A>C (n.3135A>C)
c.989A>C (p.Glu330Ala)
c.1952A>C (p.Glu651Ala)
n.621A>C
c.3086A>C (p.Glu1029Ala)
c.3077A>C (p.Glu1026Ala)
c.3104A>C (p.Glu1035Ala)
c.3101A>C (p.Glu1034Ala)
c.3083A>C (p.Glu1028Ala)
c.3026A>C (p.Glu1009Ala)
c.2960A>C (p.Glu987Ala)
c.1526A>C (p.Glu509Ala)
c.878A>C (p.Glu293Ala)
c.665A>C (p.Glu222Ala)
c.2939A>C (p.Glu980Ala)
c.3074A>C (p.Glu1025Ala)
c.3080A>C (p.Glu1027Ala)
c.2996A>C (p.Glu999Ala)
c.2981A>C (p.Glu994Ala)
c.2924A>C (p.Glu975Ala)
c.2858A>C (p.Glu953Ala)
c.2219A>C (p.Glu740Ala)
c.2837A>C (p.Glu946Ala)
9g.137813445A>GCA375794066EHMT1c.3095A>G (p.Glu1032Gly)
c.3002A>G (p.Glu1001Gly)
c.3135A>G (n.3135A>G)
c.989A>G (p.Glu330Gly)
c.1952A>G (p.Glu651Gly)
n.621A>G
c.3086A>G (p.Glu1029Gly)
c.3077A>G (p.Glu1026Gly)
c.3104A>G (p.Glu1035Gly)
c.3101A>G (p.Glu1034Gly)
c.3083A>G (p.Glu1028Gly)
c.3026A>G (p.Glu1009Gly)
c.2960A>G (p.Glu987Gly)
c.1526A>G (p.Glu509Gly)
c.878A>G (p.Glu293Gly)
c.665A>G (p.Glu222Gly)
c.2939A>G (p.Glu980Gly)
c.3074A>G (p.Glu1025Gly)
c.3080A>G (p.Glu1027Gly)
c.2996A>G (p.Glu999Gly)
c.2981A>G (p.Glu994Gly)
c.2924A>G (p.Glu975Gly)
c.2858A>G (p.Glu953Gly)
c.2219A>G (p.Glu740Gly)
c.2837A>G (p.Glu946Gly)
 gnomAD v4
9g.137813445A>TCA375794068EHMT1c.3095A>T (p.Glu1032Val)
c.3002A>T (p.Glu1001Val)
c.3135A>T (n.3135A>T)
c.989A>T (p.Glu330Val)
c.1952A>T (p.Glu651Val)
n.621A>T
c.3086A>T (p.Glu1029Val)
c.3077A>T (p.Glu1026Val)
c.3104A>T (p.Glu1035Val)
c.3101A>T (p.Glu1034Val)
c.3083A>T (p.Glu1028Val)
c.3026A>T (p.Glu1009Val)
c.2960A>T (p.Glu987Val)
c.1526A>T (p.Glu509Val)
c.878A>T (p.Glu293Val)
c.665A>T (p.Glu222Val)
c.2939A>T (p.Glu980Val)
c.3074A>T (p.Glu1025Val)
c.3080A>T (p.Glu1027Val)
c.2996A>T (p.Glu999Val)
c.2981A>T (p.Glu994Val)
c.2924A>T (p.Glu975Val)
c.2858A>T (p.Glu953Val)
c.2219A>T (p.Glu740Val)
c.2837A>T (p.Glu946Val)
9g.137813446G>ACA5375165EHMT1c.3096G>A (p.Glu1032=)
c.3003G>A (p.Glu1001=)
c.3136G>A (n.3136G>A)
c.990G>A (p.Glu330=)
c.1953G>A (p.Glu651=)
n.622G>A
c.3087G>A (p.Glu1029=)
c.3078G>A (p.Glu1026=)
c.3105G>A (p.Glu1035=)
c.3102G>A (p.Glu1034=)
c.3084G>A (p.Glu1028=)
c.3027G>A (p.Glu1009=)
c.2961G>A (p.Glu987=)
c.1527G>A (p.Glu509=)
c.879G>A (p.Glu293=)
c.666G>A (p.Glu222=)
c.2940G>A (p.Glu980=)
c.3075G>A (p.Glu1025=)
c.3081G>A (p.Glu1027=)
c.2997G>A (p.Glu999=)
c.2982G>A (p.Glu994=)
c.2925G>A (p.Glu975=)
c.2859G>A (p.Glu953=)
c.2220G>A (p.Glu740=)
c.2838G>A (p.Glu946=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813446G>CCA375794072EHMT1c.3096G>C (p.Glu1032Asp)
c.3003G>C (p.Glu1001Asp)
c.3136G>C (n.3136G>C)
c.990G>C (p.Glu330Asp)
c.1953G>C (p.Glu651Asp)
n.622G>C
c.3087G>C (p.Glu1029Asp)
c.3078G>C (p.Glu1026Asp)
c.3105G>C (p.Glu1035Asp)
c.3102G>C (p.Glu1034Asp)
c.3084G>C (p.Glu1028Asp)
c.3027G>C (p.Glu1009Asp)
c.2961G>C (p.Glu987Asp)
c.1527G>C (p.Glu509Asp)
c.879G>C (p.Glu293Asp)
c.666G>C (p.Glu222Asp)
c.2940G>C (p.Glu980Asp)
c.3075G>C (p.Glu1025Asp)
c.3081G>C (p.Glu1027Asp)
c.2997G>C (p.Glu999Asp)
c.2982G>C (p.Glu994Asp)
c.2925G>C (p.Glu975Asp)
c.2859G>C (p.Glu953Asp)
c.2220G>C (p.Glu740Asp)
c.2838G>C (p.Glu946Asp)
9g.137813446G=CA1884685892EHMT1c.3096G= (p.Glu1032=)
c.3003G= (p.Glu1001=)
c.3136G= (n.3136G=)
c.990G= (p.Glu330=)
c.1953G= (p.Glu651=)
n.622G=
c.3087G= (p.Glu1029=)
c.3078G= (p.Glu1026=)
c.3105G= (p.Glu1035=)
c.3102G= (p.Glu1034=)
c.3084G= (p.Glu1028=)
c.3027G= (p.Glu1009=)
c.2961G= (p.Glu987=)
c.1527G= (p.Glu509=)
c.879G= (p.Glu293=)
c.666G= (p.Glu222=)
c.2940G= (p.Glu980=)
c.3075G= (p.Glu1025=)
c.3081G= (p.Glu1027=)
c.2997G= (p.Glu999=)
c.2982G= (p.Glu994=)
c.2925G= (p.Glu975=)
c.2859G= (p.Glu953=)
c.2220G= (p.Glu740=)
c.2838G= (p.Glu946=)
9g.137813446G>TCA375794075EHMT1c.3096G>T (p.Glu1032Asp)
c.3003G>T (p.Glu1001Asp)
c.3136G>T (n.3136G>T)
c.990G>T (p.Glu330Asp)
c.1953G>T (p.Glu651Asp)
n.622G>T
c.3087G>T (p.Glu1029Asp)
c.3078G>T (p.Glu1026Asp)
c.3105G>T (p.Glu1035Asp)
c.3102G>T (p.Glu1034Asp)
c.3084G>T (p.Glu1028Asp)
c.3027G>T (p.Glu1009Asp)
c.2961G>T (p.Glu987Asp)
c.1527G>T (p.Glu509Asp)
c.879G>T (p.Glu293Asp)
c.666G>T (p.Glu222Asp)
c.2940G>T (p.Glu980Asp)
c.3075G>T (p.Glu1025Asp)
c.3081G>T (p.Glu1027Asp)
c.2997G>T (p.Glu999Asp)
c.2982G>T (p.Glu994Asp)
c.2925G>T (p.Glu975Asp)
c.2859G>T (p.Glu953Asp)
c.2220G>T (p.Glu740Asp)
c.2838G>T (p.Glu946Asp)
 dbSNP COSMIC COSMIC
9g.137813447C>ACA375794078EHMT1c.3097C>A (p.Pro1033Thr)
c.3004C>A (p.Pro1002Thr)
c.3137C>A (n.3137C>A)
c.991C>A (p.Pro331Thr)
c.1954C>A (p.Pro652Thr)
n.623C>A
c.3088C>A (p.Pro1030Thr)
c.3079C>A (p.Pro1027Thr)
c.3106C>A (p.Pro1036Thr)
c.3103C>A (p.Pro1035Thr)
c.3085C>A (p.Pro1029Thr)
c.3028C>A (p.Pro1010Thr)
c.2962C>A (p.Pro988Thr)
c.1528C>A (p.Pro510Thr)
c.880C>A (p.Pro294Thr)
c.667C>A (p.Pro223Thr)
c.2941C>A (p.Pro981Thr)
c.3076C>A (p.Pro1026Thr)
c.3082C>A (p.Pro1028Thr)
c.2998C>A (p.Pro1000Thr)
c.2983C>A (p.Pro995Thr)
c.2926C>A (p.Pro976Thr)
c.2860C>A (p.Pro954Thr)
c.2221C>A (p.Pro741Thr)
c.2839C>A (p.Pro947Thr)
9g.137813447C>GCA375794080EHMT1c.3097C>G (p.Pro1033Ala)
c.3004C>G (p.Pro1002Ala)
c.3137C>G (n.3137C>G)
c.991C>G (p.Pro331Ala)
c.1954C>G (p.Pro652Ala)
n.623C>G
c.3088C>G (p.Pro1030Ala)
c.3079C>G (p.Pro1027Ala)
c.3106C>G (p.Pro1036Ala)
c.3103C>G (p.Pro1035Ala)
c.3085C>G (p.Pro1029Ala)
c.3028C>G (p.Pro1010Ala)
c.2962C>G (p.Pro988Ala)
c.1528C>G (p.Pro510Ala)
c.880C>G (p.Pro294Ala)
c.667C>G (p.Pro223Ala)
c.2941C>G (p.Pro981Ala)
c.3076C>G (p.Pro1026Ala)
c.3082C>G (p.Pro1028Ala)
c.2998C>G (p.Pro1000Ala)
c.2983C>G (p.Pro995Ala)
c.2926C>G (p.Pro976Ala)
c.2860C>G (p.Pro954Ala)
c.2221C>G (p.Pro741Ala)
c.2839C>G (p.Pro947Ala)
9g.137813447C>TCA375794082EHMT1c.3097C>T (p.Pro1033Ser)
c.3004C>T (p.Pro1002Ser)
c.3137C>T (n.3137C>T)
c.991C>T (p.Pro331Ser)
c.1954C>T (p.Pro652Ser)
n.623C>T
c.3088C>T (p.Pro1030Ser)
c.3079C>T (p.Pro1027Ser)
c.3106C>T (p.Pro1036Ser)
c.3103C>T (p.Pro1035Ser)
c.3085C>T (p.Pro1029Ser)
c.3028C>T (p.Pro1010Ser)
c.2962C>T (p.Pro988Ser)
c.1528C>T (p.Pro510Ser)
c.880C>T (p.Pro294Ser)
c.667C>T (p.Pro223Ser)
c.2941C>T (p.Pro981Ser)
c.3076C>T (p.Pro1026Ser)
c.3082C>T (p.Pro1028Ser)
c.2998C>T (p.Pro1000Ser)
c.2983C>T (p.Pro995Ser)
c.2926C>T (p.Pro976Ser)
c.2860C>T (p.Pro954Ser)
c.2221C>T (p.Pro741Ser)
c.2839C>T (p.Pro947Ser)
9g.137813448C>ACA375794083EHMT1c.3098C>A (p.Pro1033Gln)
c.3005C>A (p.Pro1002Gln)
c.3138C>A (n.3138C>A)
c.992C>A (p.Pro331Gln)
c.1955C>A (p.Pro652Gln)
n.624C>A
c.3089C>A (p.Pro1030Gln)
c.3080C>A (p.Pro1027Gln)
c.3107C>A (p.Pro1036Gln)
c.3104C>A (p.Pro1035Gln)
c.3086C>A (p.Pro1029Gln)
c.3029C>A (p.Pro1010Gln)
c.2963C>A (p.Pro988Gln)
c.1529C>A (p.Pro510Gln)
c.881C>A (p.Pro294Gln)
c.668C>A (p.Pro223Gln)
c.2942C>A (p.Pro981Gln)
c.3077C>A (p.Pro1026Gln)
c.3083C>A (p.Pro1028Gln)
c.2999C>A (p.Pro1000Gln)
c.2984C>A (p.Pro995Gln)
c.2927C>A (p.Pro976Gln)
c.2861C>A (p.Pro954Gln)
c.2222C>A (p.Pro741Gln)
c.2840C>A (p.Pro947Gln)
9g.137813448C>GCA375794084EHMT1c.3098C>G (p.Pro1033Arg)
c.3005C>G (p.Pro1002Arg)
c.3138C>G (n.3138C>G)
c.992C>G (p.Pro331Arg)
c.1955C>G (p.Pro652Arg)
n.624C>G
c.3089C>G (p.Pro1030Arg)
c.3080C>G (p.Pro1027Arg)
c.3107C>G (p.Pro1036Arg)
c.3104C>G (p.Pro1035Arg)
c.3086C>G (p.Pro1029Arg)
c.3029C>G (p.Pro1010Arg)
c.2963C>G (p.Pro988Arg)
c.1529C>G (p.Pro510Arg)
c.881C>G (p.Pro294Arg)
c.668C>G (p.Pro223Arg)
c.2942C>G (p.Pro981Arg)
c.3077C>G (p.Pro1026Arg)
c.3083C>G (p.Pro1028Arg)
c.2999C>G (p.Pro1000Arg)
c.2984C>G (p.Pro995Arg)
c.2927C>G (p.Pro976Arg)
c.2861C>G (p.Pro954Arg)
c.2222C>G (p.Pro741Arg)
c.2840C>G (p.Pro947Arg)
9g.137813448C>TCA375794086EHMT1c.3098C>T (p.Pro1033Leu)
c.3005C>T (p.Pro1002Leu)
c.3138C>T (n.3138C>T)
c.992C>T (p.Pro331Leu)
c.1955C>T (p.Pro652Leu)
n.624C>T
c.3089C>T (p.Pro1030Leu)
c.3080C>T (p.Pro1027Leu)
c.3107C>T (p.Pro1036Leu)
c.3104C>T (p.Pro1035Leu)
c.3086C>T (p.Pro1029Leu)
c.3029C>T (p.Pro1010Leu)
c.2963C>T (p.Pro988Leu)
c.1529C>T (p.Pro510Leu)
c.881C>T (p.Pro294Leu)
c.668C>T (p.Pro223Leu)
c.2942C>T (p.Pro981Leu)
c.3077C>T (p.Pro1026Leu)
c.3083C>T (p.Pro1028Leu)
c.2999C>T (p.Pro1000Leu)
c.2984C>T (p.Pro995Leu)
c.2927C>T (p.Pro976Leu)
c.2861C>T (p.Pro954Leu)
c.2222C>T (p.Pro741Leu)
c.2840C>T (p.Pro947Leu)
9g.137813449A>CCA468161429EHMT1c.3099A>C (p.Pro1033=)
c.3006A>C (p.Pro1002=)
c.3139A>C (n.3139A>C)
c.993A>C (p.Pro331=)
c.1956A>C (p.Pro652=)
n.625A>C
c.3090A>C (p.Pro1030=)
c.3081A>C (p.Pro1027=)
c.3108A>C (p.Pro1036=)
c.3105A>C (p.Pro1035=)
c.3087A>C (p.Pro1029=)
c.3030A>C (p.Pro1010=)
c.2964A>C (p.Pro988=)
c.1530A>C (p.Pro510=)
c.882A>C (p.Pro294=)
c.669A>C (p.Pro223=)
c.2943A>C (p.Pro981=)
c.3078A>C (p.Pro1026=)
c.3084A>C (p.Pro1028=)
c.3000A>C (p.Pro1000=)
c.2985A>C (p.Pro995=)
c.2928A>C (p.Pro976=)
c.2862A>C (p.Pro954=)
c.2223A>C (p.Pro741=)
c.2841A>C (p.Pro947=)
9g.137813449A>GCA468161430EHMT1c.3099A>G (p.Pro1033=)
c.3006A>G (p.Pro1002=)
c.3139A>G (n.3139A>G)
c.993A>G (p.Pro331=)
c.1956A>G (p.Pro652=)
n.625A>G
c.3090A>G (p.Pro1030=)
c.3081A>G (p.Pro1027=)
c.3108A>G (p.Pro1036=)
c.3105A>G (p.Pro1035=)
c.3087A>G (p.Pro1029=)
c.3030A>G (p.Pro1010=)
c.2964A>G (p.Pro988=)
c.1530A>G (p.Pro510=)
c.882A>G (p.Pro294=)
c.669A>G (p.Pro223=)
c.2943A>G (p.Pro981=)
c.3078A>G (p.Pro1026=)
c.3084A>G (p.Pro1028=)
c.3000A>G (p.Pro1000=)
c.2985A>G (p.Pro995=)
c.2928A>G (p.Pro976=)
c.2862A>G (p.Pro954=)
c.2223A>G (p.Pro741=)
c.2841A>G (p.Pro947=)
 dbSNP
9g.137813449A>TCA468161431EHMT1c.3099A>T (p.Pro1033=)
c.3006A>T (p.Pro1002=)
c.3139A>T (n.3139A>T)
c.993A>T (p.Pro331=)
c.1956A>T (p.Pro652=)
n.625A>T
c.3090A>T (p.Pro1030=)
c.3081A>T (p.Pro1027=)
c.3108A>T (p.Pro1036=)
c.3105A>T (p.Pro1035=)
c.3087A>T (p.Pro1029=)
c.3030A>T (p.Pro1010=)
c.2964A>T (p.Pro988=)
c.1530A>T (p.Pro510=)
c.882A>T (p.Pro294=)
c.669A>T (p.Pro223=)
c.2943A>T (p.Pro981=)
c.3078A>T (p.Pro1026=)
c.3084A>T (p.Pro1028=)
c.3000A>T (p.Pro1000=)
c.2985A>T (p.Pro995=)
c.2928A>T (p.Pro976=)
c.2862A>T (p.Pro954=)
c.2223A>T (p.Pro741=)
c.2841A>T (p.Pro947=)
9g.137813450T>ACA375794092EHMT1c.3100T>A (p.Cys1034Ser)
c.3007T>A (p.Cys1003Ser)
c.3140T>A (n.3140T>A)
c.994T>A (p.Cys332Ser)
c.1957T>A (p.Cys653Ser)
n.626T>A
c.3091T>A (p.Cys1031Ser)
c.3082T>A (p.Cys1028Ser)
c.3109T>A (p.Cys1037Ser)
c.3106T>A (p.Cys1036Ser)
c.3088T>A (p.Cys1030Ser)
c.3031T>A (p.Cys1011Ser)
c.2965T>A (p.Cys989Ser)
c.1531T>A (p.Cys511Ser)
c.883T>A (p.Cys295Ser)
c.670T>A (p.Cys224Ser)
c.2944T>A (p.Cys982Ser)
c.3079T>A (p.Cys1027Ser)
c.3085T>A (p.Cys1029Ser)
c.3001T>A (p.Cys1001Ser)
c.2986T>A (p.Cys996Ser)
c.2929T>A (p.Cys977Ser)
c.2863T>A (p.Cys955Ser)
c.2224T>A (p.Cys742Ser)
c.2842T>A (p.Cys948Ser)
9g.137813450T>CCA375794089EHMT1c.3100T>C (p.Cys1034Arg)
c.3007T>C (p.Cys1003Arg)
c.3140T>C (n.3140T>C)
c.994T>C (p.Cys332Arg)
c.1957T>C (p.Cys653Arg)
n.626T>C
c.3091T>C (p.Cys1031Arg)
c.3082T>C (p.Cys1028Arg)
c.3109T>C (p.Cys1037Arg)
c.3106T>C (p.Cys1036Arg)
c.3088T>C (p.Cys1030Arg)
c.3031T>C (p.Cys1011Arg)
c.2965T>C (p.Cys989Arg)
c.1531T>C (p.Cys511Arg)
c.883T>C (p.Cys295Arg)
c.670T>C (p.Cys224Arg)
c.2944T>C (p.Cys982Arg)
c.3079T>C (p.Cys1027Arg)
c.3085T>C (p.Cys1029Arg)
c.3001T>C (p.Cys1001Arg)
c.2986T>C (p.Cys996Arg)
c.2929T>C (p.Cys977Arg)
c.2863T>C (p.Cys955Arg)
c.2224T>C (p.Cys742Arg)
c.2842T>C (p.Cys948Arg)
 dbSNP
9g.137813450T>GCA375794091EHMT1c.3100T>G (p.Cys1034Gly)
c.3007T>G (p.Cys1003Gly)
c.3140T>G (n.3140T>G)
c.994T>G (p.Cys332Gly)
c.1957T>G (p.Cys653Gly)
n.626T>G
c.3091T>G (p.Cys1031Gly)
c.3082T>G (p.Cys1028Gly)
c.3109T>G (p.Cys1037Gly)
c.3106T>G (p.Cys1036Gly)
c.3088T>G (p.Cys1030Gly)
c.3031T>G (p.Cys1011Gly)
c.2965T>G (p.Cys989Gly)
c.1531T>G (p.Cys511Gly)
c.883T>G (p.Cys295Gly)
c.670T>G (p.Cys224Gly)
c.2944T>G (p.Cys982Gly)
c.3079T>G (p.Cys1027Gly)
c.3085T>G (p.Cys1029Gly)
c.3001T>G (p.Cys1001Gly)
c.2986T>G (p.Cys996Gly)
c.2929T>G (p.Cys977Gly)
c.2863T>G (p.Cys955Gly)
c.2224T>G (p.Cys742Gly)
c.2842T>G (p.Cys948Gly)
9g.137813450T=CA1884685893EHMT1c.3100T= (p.Cys1034=)
c.3007T= (p.Cys1003=)
c.3140T= (n.3140T=)
c.994T= (p.Cys332=)
c.1957T= (p.Cys653=)
n.626T=
c.3091T= (p.Cys1031=)
c.3082T= (p.Cys1028=)
c.3109T= (p.Cys1037=)
c.3106T= (p.Cys1036=)
c.3088T= (p.Cys1030=)
c.3031T= (p.Cys1011=)
c.2965T= (p.Cys989=)
c.1531T= (p.Cys511=)
c.883T= (p.Cys295=)
c.670T= (p.Cys224=)
c.2944T= (p.Cys982=)
c.3079T= (p.Cys1027=)
c.3085T= (p.Cys1029=)
c.3001T= (p.Cys1001=)
c.2986T= (p.Cys996=)
c.2929T= (p.Cys977=)
c.2863T= (p.Cys955=)
c.2224T= (p.Cys742=)
c.2842T= (p.Cys948=)
9g.137813451G>ACA375794094EHMT1c.3101G>A (p.Cys1034Tyr)
c.3008G>A (p.Cys1003Tyr)
c.3141G>A (n.3141G>A)
c.995G>A (p.Cys332Tyr)
c.1958G>A (p.Cys653Tyr)
n.627G>A
c.3092G>A (p.Cys1031Tyr)
c.3083G>A (p.Cys1028Tyr)
c.3110G>A (p.Cys1037Tyr)
c.3107G>A (p.Cys1036Tyr)
c.3089G>A (p.Cys1030Tyr)
c.3032G>A (p.Cys1011Tyr)
c.2966G>A (p.Cys989Tyr)
c.1532G>A (p.Cys511Tyr)
c.884G>A (p.Cys295Tyr)
c.671G>A (p.Cys224Tyr)
c.2945G>A (p.Cys982Tyr)
c.3080G>A (p.Cys1027Tyr)
c.3086G>A (p.Cys1029Tyr)
c.3002G>A (p.Cys1001Tyr)
c.2987G>A (p.Cys996Tyr)
c.2930G>A (p.Cys977Tyr)
c.2864G>A (p.Cys955Tyr)
c.2225G>A (p.Cys742Tyr)
c.2843G>A (p.Cys948Tyr)
9g.137813451G>CCA375794100EHMT1c.3101G>C (p.Cys1034Ser)
c.3008G>C (p.Cys1003Ser)
c.3141G>C (n.3141G>C)
c.995G>C (p.Cys332Ser)
c.1958G>C (p.Cys653Ser)
n.627G>C
c.3092G>C (p.Cys1031Ser)
c.3083G>C (p.Cys1028Ser)
c.3110G>C (p.Cys1037Ser)
c.3107G>C (p.Cys1036Ser)
c.3089G>C (p.Cys1030Ser)
c.3032G>C (p.Cys1011Ser)
c.2966G>C (p.Cys989Ser)
c.1532G>C (p.Cys511Ser)
c.884G>C (p.Cys295Ser)
c.671G>C (p.Cys224Ser)
c.2945G>C (p.Cys982Ser)
c.3080G>C (p.Cys1027Ser)
c.3086G>C (p.Cys1029Ser)
c.3002G>C (p.Cys1001Ser)
c.2987G>C (p.Cys996Ser)
c.2930G>C (p.Cys977Ser)
c.2864G>C (p.Cys955Ser)
c.2225G>C (p.Cys742Ser)
c.2843G>C (p.Cys948Ser)
9g.137813451G>TCA375794097EHMT1c.3101G>T (p.Cys1034Phe)
c.3008G>T (p.Cys1003Phe)
c.3141G>T (n.3141G>T)
c.995G>T (p.Cys332Phe)
c.1958G>T (p.Cys653Phe)
n.627G>T
c.3092G>T (p.Cys1031Phe)
c.3083G>T (p.Cys1028Phe)
c.3110G>T (p.Cys1037Phe)
c.3107G>T (p.Cys1036Phe)
c.3089G>T (p.Cys1030Phe)
c.3032G>T (p.Cys1011Phe)
c.2966G>T (p.Cys989Phe)
c.1532G>T (p.Cys511Phe)
c.884G>T (p.Cys295Phe)
c.671G>T (p.Cys224Phe)
c.2945G>T (p.Cys982Phe)
c.3080G>T (p.Cys1027Phe)
c.3086G>T (p.Cys1029Phe)
c.3002G>T (p.Cys1001Phe)
c.2987G>T (p.Cys996Phe)
c.2930G>T (p.Cys977Phe)
c.2864G>T (p.Cys955Phe)
c.2225G>T (p.Cys742Phe)
c.2843G>T (p.Cys948Phe)
 ClinVar
9g.137813452C>ACA375794102EHMT1c.3102C>A (p.Cys1034Ter)
c.3009C>A (p.Cys1003Ter)
c.3142C>A (n.3142C>A)
c.996C>A (p.Cys332Ter)
c.1959C>A (p.Cys653Ter)
n.628C>A
c.3093C>A (p.Cys1031Ter)
c.3084C>A (p.Cys1028Ter)
c.3111C>A (p.Cys1037Ter)
c.3108C>A (p.Cys1036Ter)
c.3090C>A (p.Cys1030Ter)
c.3033C>A (p.Cys1011Ter)
c.2967C>A (p.Cys989Ter)
c.1533C>A (p.Cys511Ter)
c.885C>A (p.Cys295Ter)
c.672C>A (p.Cys224Ter)
c.2946C>A (p.Cys982Ter)
c.3081C>A (p.Cys1027Ter)
c.3087C>A (p.Cys1029Ter)
c.3003C>A (p.Cys1001Ter)
c.2988C>A (p.Cys996Ter)
c.2931C>A (p.Cys977Ter)
c.2865C>A (p.Cys955Ter)
c.2226C>A (p.Cys742Ter)
c.2844C>A (p.Cys948Ter)
9g.137813452C=CA1884685894EHMT1c.3102C= (p.Cys1034=)
c.3009C= (p.Cys1003=)
c.3142C= (n.3142C=)
c.996C= (p.Cys332=)
c.1959C= (p.Cys653=)
n.628C=
c.3093C= (p.Cys1031=)
c.3084C= (p.Cys1028=)
c.3111C= (p.Cys1037=)
c.3108C= (p.Cys1036=)
c.3090C= (p.Cys1030=)
c.3033C= (p.Cys1011=)
c.2967C= (p.Cys989=)
c.1533C= (p.Cys511=)
c.885C= (p.Cys295=)
c.672C= (p.Cys224=)
c.2946C= (p.Cys982=)
c.3081C= (p.Cys1027=)
c.3087C= (p.Cys1029=)
c.3003C= (p.Cys1001=)
c.2988C= (p.Cys996=)
c.2931C= (p.Cys977=)
c.2865C= (p.Cys955=)
c.2226C= (p.Cys742=)
c.2844C= (p.Cys948=)
9g.137813452C>GCA375794104EHMT1c.3102C>G (p.Cys1034Trp)
c.3009C>G (p.Cys1003Trp)
c.3142C>G (n.3142C>G)
c.996C>G (p.Cys332Trp)
c.1959C>G (p.Cys653Trp)
n.628C>G
c.3093C>G (p.Cys1031Trp)
c.3084C>G (p.Cys1028Trp)
c.3111C>G (p.Cys1037Trp)
c.3108C>G (p.Cys1036Trp)
c.3090C>G (p.Cys1030Trp)
c.3033C>G (p.Cys1011Trp)
c.2967C>G (p.Cys989Trp)
c.1533C>G (p.Cys511Trp)
c.885C>G (p.Cys295Trp)
c.672C>G (p.Cys224Trp)
c.2946C>G (p.Cys982Trp)
c.3081C>G (p.Cys1027Trp)
c.3087C>G (p.Cys1029Trp)
c.3003C>G (p.Cys1001Trp)
c.2988C>G (p.Cys996Trp)
c.2931C>G (p.Cys977Trp)
c.2865C>G (p.Cys955Trp)
c.2226C>G (p.Cys742Trp)
c.2844C>G (p.Cys948Trp)
9g.137813452C>TCA468161432EHMT1c.3102C>T (p.Cys1034=)
c.3009C>T (p.Cys1003=)
c.3142C>T (n.3142C>T)
c.996C>T (p.Cys332=)
c.1959C>T (p.Cys653=)
n.628C>T
c.3093C>T (p.Cys1031=)
c.3084C>T (p.Cys1028=)
c.3111C>T (p.Cys1037=)
c.3108C>T (p.Cys1036=)
c.3090C>T (p.Cys1030=)
c.3033C>T (p.Cys1011=)
c.2967C>T (p.Cys989=)
c.1533C>T (p.Cys511=)
c.885C>T (p.Cys295=)
c.672C>T (p.Cys224=)
c.2946C>T (p.Cys982=)
c.3081C>T (p.Cys1027=)
c.3087C>T (p.Cys1029=)
c.3003C>T (p.Cys1001=)
c.2988C>T (p.Cys996=)
c.2931C>T (p.Cys977=)
c.2865C>T (p.Cys955=)
c.2226C>T (p.Cys742=)
c.2844C>T (p.Cys948=)
 ClinVar dbSNP
9g.137813453C>ACA375794108EHMT1c.3103C>A (p.Pro1035Thr)
c.3010C>A (p.Pro1004Thr)
c.3143C>A (n.3143C>A)
c.997C>A (p.Pro333Thr)
c.1960C>A (p.Pro654Thr)
n.629C>A
c.3094C>A (p.Pro1032Thr)
c.3085C>A (p.Pro1029Thr)
c.3112C>A (p.Pro1038Thr)
c.3109C>A (p.Pro1037Thr)
c.3091C>A (p.Pro1031Thr)
c.3034C>A (p.Pro1012Thr)
c.2968C>A (p.Pro990Thr)
c.1534C>A (p.Pro512Thr)
c.886C>A (p.Pro296Thr)
c.673C>A (p.Pro225Thr)
c.2947C>A (p.Pro983Thr)
c.3082C>A (p.Pro1028Thr)
c.3088C>A (p.Pro1030Thr)
c.3004C>A (p.Pro1002Thr)
c.2989C>A (p.Pro997Thr)
c.2932C>A (p.Pro978Thr)
c.2866C>A (p.Pro956Thr)
c.2227C>A (p.Pro743Thr)
c.2845C>A (p.Pro949Thr)
9g.137813453C>GCA375794109EHMT1c.3103C>G (p.Pro1035Ala)
c.3010C>G (p.Pro1004Ala)
c.3143C>G (n.3143C>G)
c.997C>G (p.Pro333Ala)
c.1960C>G (p.Pro654Ala)
n.629C>G
c.3094C>G (p.Pro1032Ala)
c.3085C>G (p.Pro1029Ala)
c.3112C>G (p.Pro1038Ala)
c.3109C>G (p.Pro1037Ala)
c.3091C>G (p.Pro1031Ala)
c.3034C>G (p.Pro1012Ala)
c.2968C>G (p.Pro990Ala)
c.1534C>G (p.Pro512Ala)
c.886C>G (p.Pro296Ala)
c.673C>G (p.Pro225Ala)
c.2947C>G (p.Pro983Ala)
c.3082C>G (p.Pro1028Ala)
c.3088C>G (p.Pro1030Ala)
c.3004C>G (p.Pro1002Ala)
c.2989C>G (p.Pro997Ala)
c.2932C>G (p.Pro978Ala)
c.2866C>G (p.Pro956Ala)
c.2227C>G (p.Pro743Ala)
c.2845C>G (p.Pro949Ala)
9g.137813453C>TCA375794111EHMT1c.3103C>T (p.Pro1035Ser)
c.3010C>T (p.Pro1004Ser)
c.3143C>T (n.3143C>T)
c.997C>T (p.Pro333Ser)
c.1960C>T (p.Pro654Ser)
n.629C>T
c.3094C>T (p.Pro1032Ser)
c.3085C>T (p.Pro1029Ser)
c.3112C>T (p.Pro1038Ser)
c.3109C>T (p.Pro1037Ser)
c.3091C>T (p.Pro1031Ser)
c.3034C>T (p.Pro1012Ser)
c.2968C>T (p.Pro990Ser)
c.1534C>T (p.Pro512Ser)
c.886C>T (p.Pro296Ser)
c.673C>T (p.Pro225Ser)
c.2947C>T (p.Pro983Ser)
c.3082C>T (p.Pro1028Ser)
c.3088C>T (p.Pro1030Ser)
c.3004C>T (p.Pro1002Ser)
c.2989C>T (p.Pro997Ser)
c.2932C>T (p.Pro978Ser)
c.2866C>T (p.Pro956Ser)
c.2227C>T (p.Pro743Ser)
c.2845C>T (p.Pro949Ser)
9g.137813454C>ACA375794115EHMT1c.3104C>A (p.Pro1035His)
c.3011C>A (p.Pro1004His)
c.3144C>A (n.3144C>A)
c.998C>A (p.Pro333His)
c.1961C>A (p.Pro654His)
n.630C>A
c.3095C>A (p.Pro1032His)
c.3086C>A (p.Pro1029His)
c.3113C>A (p.Pro1038His)
c.3110C>A (p.Pro1037His)
c.3092C>A (p.Pro1031His)
c.3035C>A (p.Pro1012His)
c.2969C>A (p.Pro990His)
c.1535C>A (p.Pro512His)
c.887C>A (p.Pro296His)
c.674C>A (p.Pro225His)
c.2948C>A (p.Pro983His)
c.3083C>A (p.Pro1028His)
c.3089C>A (p.Pro1030His)
c.3005C>A (p.Pro1002His)
c.2990C>A (p.Pro997His)
c.2933C>A (p.Pro978His)
c.2867C>A (p.Pro956His)
c.2228C>A (p.Pro743His)
c.2846C>A (p.Pro949His)
9g.137813454C=CA1884685895EHMT1c.3104C= (p.Pro1035=)
c.3011C= (p.Pro1004=)
c.3144C= (n.3144C=)
c.998C= (p.Pro333=)
c.1961C= (p.Pro654=)
n.630C=
c.3095C= (p.Pro1032=)
c.3086C= (p.Pro1029=)
c.3113C= (p.Pro1038=)
c.3110C= (p.Pro1037=)
c.3092C= (p.Pro1031=)
c.3035C= (p.Pro1012=)
c.2969C= (p.Pro990=)
c.1535C= (p.Pro512=)
c.887C= (p.Pro296=)
c.674C= (p.Pro225=)
c.2948C= (p.Pro983=)
c.3083C= (p.Pro1028=)
c.3089C= (p.Pro1030=)
c.3005C= (p.Pro1002=)
c.2990C= (p.Pro997=)
c.2933C= (p.Pro978=)
c.2867C= (p.Pro956=)
c.2228C= (p.Pro743=)
c.2846C= (p.Pro949=)
9g.137813454C>GCA375794116EHMT1c.3104C>G (p.Pro1035Arg)
c.3011C>G (p.Pro1004Arg)
c.3144C>G (n.3144C>G)
c.998C>G (p.Pro333Arg)
c.1961C>G (p.Pro654Arg)
n.630C>G
c.3095C>G (p.Pro1032Arg)
c.3086C>G (p.Pro1029Arg)
c.3113C>G (p.Pro1038Arg)
c.3110C>G (p.Pro1037Arg)
c.3092C>G (p.Pro1031Arg)
c.3035C>G (p.Pro1012Arg)
c.2969C>G (p.Pro990Arg)
c.1535C>G (p.Pro512Arg)
c.887C>G (p.Pro296Arg)
c.674C>G (p.Pro225Arg)
c.2948C>G (p.Pro983Arg)
c.3083C>G (p.Pro1028Arg)
c.3089C>G (p.Pro1030Arg)
c.3005C>G (p.Pro1002Arg)
c.2990C>G (p.Pro997Arg)
c.2933C>G (p.Pro978Arg)
c.2867C>G (p.Pro956Arg)
c.2228C>G (p.Pro743Arg)
c.2846C>G (p.Pro949Arg)
9g.137813454C>TCA375794119EHMT1c.3104C>T (p.Pro1035Leu)
c.3011C>T (p.Pro1004Leu)
c.3144C>T (n.3144C>T)
c.998C>T (p.Pro333Leu)
c.1961C>T (p.Pro654Leu)
n.630C>T
c.3095C>T (p.Pro1032Leu)
c.3086C>T (p.Pro1029Leu)
c.3113C>T (p.Pro1038Leu)
c.3110C>T (p.Pro1037Leu)
c.3092C>T (p.Pro1031Leu)
c.3035C>T (p.Pro1012Leu)
c.2969C>T (p.Pro990Leu)
c.1535C>T (p.Pro512Leu)
c.887C>T (p.Pro296Leu)
c.674C>T (p.Pro225Leu)
c.2948C>T (p.Pro983Leu)
c.3083C>T (p.Pro1028Leu)
c.3089C>T (p.Pro1030Leu)
c.3005C>T (p.Pro1002Leu)
c.2990C>T (p.Pro997Leu)
c.2933C>T (p.Pro978Leu)
c.2867C>T (p.Pro956Leu)
c.2228C>T (p.Pro743Leu)
c.2846C>T (p.Pro949Leu)
 dbSNP
9g.137813455C>ACA468161433EHMT1c.3105C>A (p.Pro1035=)
c.3012C>A (p.Pro1004=)
c.3145C>A (n.3145C>A)
c.999C>A (p.Pro333=)
c.1962C>A (p.Pro654=)
n.631C>A
c.3096C>A (p.Pro1032=)
c.3087C>A (p.Pro1029=)
c.3114C>A (p.Pro1038=)
c.3111C>A (p.Pro1037=)
c.3093C>A (p.Pro1031=)
c.3036C>A (p.Pro1012=)
c.2970C>A (p.Pro990=)
c.1536C>A (p.Pro512=)
c.888C>A (p.Pro296=)
c.675C>A (p.Pro225=)
c.2949C>A (p.Pro983=)
c.3084C>A (p.Pro1028=)
c.3090C>A (p.Pro1030=)
c.3006C>A (p.Pro1002=)
c.2991C>A (p.Pro997=)
c.2934C>A (p.Pro978=)
c.2868C>A (p.Pro956=)
c.2229C>A (p.Pro743=)
c.2847C>A (p.Pro949=)
9g.137813455C=CA1884685896EHMT1c.3105C= (p.Pro1035=)
c.3012C= (p.Pro1004=)
c.3145C= (n.3145C=)
c.999C= (p.Pro333=)
c.1962C= (p.Pro654=)
n.631C=
c.3096C= (p.Pro1032=)
c.3087C= (p.Pro1029=)
c.3114C= (p.Pro1038=)
c.3111C= (p.Pro1037=)
c.3093C= (p.Pro1031=)
c.3036C= (p.Pro1012=)
c.2970C= (p.Pro990=)
c.1536C= (p.Pro512=)
c.888C= (p.Pro296=)
c.675C= (p.Pro225=)
c.2949C= (p.Pro983=)
c.3084C= (p.Pro1028=)
c.3090C= (p.Pro1030=)
c.3006C= (p.Pro1002=)
c.2991C= (p.Pro997=)
c.2934C= (p.Pro978=)
c.2868C= (p.Pro956=)
c.2229C= (p.Pro743=)
c.2847C= (p.Pro949=)
9g.137813455C>GCA468161434EHMT1c.3105C>G (p.Pro1035=)
c.3012C>G (p.Pro1004=)
c.3145C>G (n.3145C>G)
c.999C>G (p.Pro333=)
c.1962C>G (p.Pro654=)
n.631C>G
c.3096C>G (p.Pro1032=)
c.3087C>G (p.Pro1029=)
c.3114C>G (p.Pro1038=)
c.3111C>G (p.Pro1037=)
c.3093C>G (p.Pro1031=)
c.3036C>G (p.Pro1012=)
c.2970C>G (p.Pro990=)
c.1536C>G (p.Pro512=)
c.888C>G (p.Pro296=)
c.675C>G (p.Pro225=)
c.2949C>G (p.Pro983=)
c.3084C>G (p.Pro1028=)
c.3090C>G (p.Pro1030=)
c.3006C>G (p.Pro1002=)
c.2991C>G (p.Pro997=)
c.2934C>G (p.Pro978=)
c.2868C>G (p.Pro956=)
c.2229C>G (p.Pro743=)
c.2847C>G (p.Pro949=)
9g.137813455C>TCA5375166EHMT1c.3105C>T (p.Pro1035=)
c.3012C>T (p.Pro1004=)
c.3145C>T (n.3145C>T)
c.999C>T (p.Pro333=)
c.1962C>T (p.Pro654=)
n.631C>T
c.3096C>T (p.Pro1032=)
c.3087C>T (p.Pro1029=)
c.3114C>T (p.Pro1038=)
c.3111C>T (p.Pro1037=)
c.3093C>T (p.Pro1031=)
c.3036C>T (p.Pro1012=)
c.2970C>T (p.Pro990=)
c.1536C>T (p.Pro512=)
c.888C>T (p.Pro296=)
c.675C>T (p.Pro225=)
c.2949C>T (p.Pro983=)
c.3084C>T (p.Pro1028=)
c.3090C>T (p.Pro1030=)
c.3006C>T (p.Pro1002=)
c.2991C>T (p.Pro997=)
c.2934C>T (p.Pro978=)
c.2868C>T (p.Pro956=)
c.2229C>T (p.Pro743=)
c.2847C>T (p.Pro949=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813456A=CA1884685897EHMT1c.3106A= (p.Ser1036=)
c.3013A= (p.Ser1005=)
c.3146A= (n.3146A=)
c.1000A= (p.Ser334=)
c.1963A= (p.Ser655=)
n.632A=
c.3097A= (p.Ser1033=)
c.3088A= (p.Ser1030=)
c.3115A= (p.Ser1039=)
c.3112A= (p.Ser1038=)
c.3094A= (p.Ser1032=)
c.3037A= (p.Ser1013=)
c.2971A= (p.Ser991=)
c.1537A= (p.Ser513=)
c.889A= (p.Ser297=)
c.676A= (p.Ser226=)
c.2950A= (p.Ser984=)
c.3085A= (p.Ser1029=)
c.3091A= (p.Ser1031=)
c.3007A= (p.Ser1003=)
c.2992A= (p.Ser998=)
c.2935A= (p.Ser979=)
c.2869A= (p.Ser957=)
c.2230A= (p.Ser744=)
c.2848A= (p.Ser950=)
9g.137813456A>CCA375794143EHMT1c.3106A>C (p.Ser1036Arg)
c.3013A>C (p.Ser1005Arg)
c.3146A>C (n.3146A>C)
c.1000A>C (p.Ser334Arg)
c.1963A>C (p.Ser655Arg)
n.632A>C
c.3097A>C (p.Ser1033Arg)
c.3088A>C (p.Ser1030Arg)
c.3115A>C (p.Ser1039Arg)
c.3112A>C (p.Ser1038Arg)
c.3094A>C (p.Ser1032Arg)
c.3037A>C (p.Ser1013Arg)
c.2971A>C (p.Ser991Arg)
c.1537A>C (p.Ser513Arg)
c.889A>C (p.Ser297Arg)
c.676A>C (p.Ser226Arg)
c.2950A>C (p.Ser984Arg)
c.3085A>C (p.Ser1029Arg)
c.3091A>C (p.Ser1031Arg)
c.3007A>C (p.Ser1003Arg)
c.2992A>C (p.Ser998Arg)
c.2935A>C (p.Ser979Arg)
c.2869A>C (p.Ser957Arg)
c.2230A>C (p.Ser744Arg)
c.2848A>C (p.Ser950Arg)
 dbSNP gnomAD v4
9g.137813456A>GCA375794144EHMT1c.3106A>G (p.Ser1036Gly)
c.3013A>G (p.Ser1005Gly)
c.3146A>G (n.3146A>G)
c.1000A>G (p.Ser334Gly)
c.1963A>G (p.Ser655Gly)
n.632A>G
c.3097A>G (p.Ser1033Gly)
c.3088A>G (p.Ser1030Gly)
c.3115A>G (p.Ser1039Gly)
c.3112A>G (p.Ser1038Gly)
c.3094A>G (p.Ser1032Gly)
c.3037A>G (p.Ser1013Gly)
c.2971A>G (p.Ser991Gly)
c.1537A>G (p.Ser513Gly)
c.889A>G (p.Ser297Gly)
c.676A>G (p.Ser226Gly)
c.2950A>G (p.Ser984Gly)
c.3085A>G (p.Ser1029Gly)
c.3091A>G (p.Ser1031Gly)
c.3007A>G (p.Ser1003Gly)
c.2992A>G (p.Ser998Gly)
c.2935A>G (p.Ser979Gly)
c.2869A>G (p.Ser957Gly)
c.2230A>G (p.Ser744Gly)
c.2848A>G (p.Ser950Gly)
 COSMIC COSMIC
9g.137813456A>TCA375794145EHMT1c.3106A>T (p.Ser1036Cys)
c.3013A>T (p.Ser1005Cys)
c.3146A>T (n.3146A>T)
c.1000A>T (p.Ser334Cys)
c.1963A>T (p.Ser655Cys)
n.632A>T
c.3097A>T (p.Ser1033Cys)
c.3088A>T (p.Ser1030Cys)
c.3115A>T (p.Ser1039Cys)
c.3112A>T (p.Ser1038Cys)
c.3094A>T (p.Ser1032Cys)
c.3037A>T (p.Ser1013Cys)
c.2971A>T (p.Ser991Cys)
c.1537A>T (p.Ser513Cys)
c.889A>T (p.Ser297Cys)
c.676A>T (p.Ser226Cys)
c.2950A>T (p.Ser984Cys)
c.3085A>T (p.Ser1029Cys)
c.3091A>T (p.Ser1031Cys)
c.3007A>T (p.Ser1003Cys)
c.2992A>T (p.Ser998Cys)
c.2935A>T (p.Ser979Cys)
c.2869A>T (p.Ser957Cys)
c.2230A>T (p.Ser744Cys)
c.2848A>T (p.Ser950Cys)
9g.137813457G>ACA375794146EHMT1c.3107G>A (p.Ser1036Asn)
c.3014G>A (p.Ser1005Asn)
c.3147G>A (n.3147G>A)
c.1001G>A (p.Ser334Asn)
c.1964G>A (p.Ser655Asn)
n.633G>A
c.3098G>A (p.Ser1033Asn)
c.3089G>A (p.Ser1030Asn)
c.3116G>A (p.Ser1039Asn)
c.3113G>A (p.Ser1038Asn)
c.3095G>A (p.Ser1032Asn)
c.3038G>A (p.Ser1013Asn)
c.2972G>A (p.Ser991Asn)
c.1538G>A (p.Ser513Asn)
c.890G>A (p.Ser297Asn)
c.677G>A (p.Ser226Asn)
c.2951G>A (p.Ser984Asn)
c.3086G>A (p.Ser1029Asn)
c.3092G>A (p.Ser1031Asn)
c.3008G>A (p.Ser1003Asn)
c.2993G>A (p.Ser998Asn)
c.2936G>A (p.Ser979Asn)
c.2870G>A (p.Ser957Asn)
c.2231G>A (p.Ser744Asn)
c.2849G>A (p.Ser950Asn)
9g.137813457G>CCA375794150EHMT1c.3107G>C (p.Ser1036Thr)
c.3014G>C (p.Ser1005Thr)
c.3147G>C (n.3147G>C)
c.1001G>C (p.Ser334Thr)
c.1964G>C (p.Ser655Thr)
n.633G>C
c.3098G>C (p.Ser1033Thr)
c.3089G>C (p.Ser1030Thr)
c.3116G>C (p.Ser1039Thr)
c.3113G>C (p.Ser1038Thr)
c.3095G>C (p.Ser1032Thr)
c.3038G>C (p.Ser1013Thr)
c.2972G>C (p.Ser991Thr)
c.1538G>C (p.Ser513Thr)
c.890G>C (p.Ser297Thr)
c.677G>C (p.Ser226Thr)
c.2951G>C (p.Ser984Thr)
c.3086G>C (p.Ser1029Thr)
c.3092G>C (p.Ser1031Thr)
c.3008G>C (p.Ser1003Thr)
c.2993G>C (p.Ser998Thr)
c.2936G>C (p.Ser979Thr)
c.2870G>C (p.Ser957Thr)
c.2231G>C (p.Ser744Thr)
c.2849G>C (p.Ser950Thr)
9g.137813457G=CA1884685898EHMT1c.3107G= (p.Ser1036=)
c.3014G= (p.Ser1005=)
c.3147G= (n.3147G=)
c.1001G= (p.Ser334=)
c.1964G= (p.Ser655=)
n.633G=
c.3098G= (p.Ser1033=)
c.3089G= (p.Ser1030=)
c.3116G= (p.Ser1039=)
c.3113G= (p.Ser1038=)
c.3095G= (p.Ser1032=)
c.3038G= (p.Ser1013=)
c.2972G= (p.Ser991=)
c.1538G= (p.Ser513=)
c.890G= (p.Ser297=)
c.677G= (p.Ser226=)
c.2951G= (p.Ser984=)
c.3086G= (p.Ser1029=)
c.3092G= (p.Ser1031=)
c.3008G= (p.Ser1003=)
c.2993G= (p.Ser998=)
c.2936G= (p.Ser979=)
c.2870G= (p.Ser957=)
c.2231G= (p.Ser744=)
c.2849G= (p.Ser950=)
9g.137813457G>TCA5375167EHMT1c.3107G>T (p.Ser1036Ile)
c.3014G>T (p.Ser1005Ile)
c.3147G>T (n.3147G>T)
c.1001G>T (p.Ser334Ile)
c.1964G>T (p.Ser655Ile)
n.633G>T
c.3098G>T (p.Ser1033Ile)
c.3089G>T (p.Ser1030Ile)
c.3116G>T (p.Ser1039Ile)
c.3113G>T (p.Ser1038Ile)
c.3095G>T (p.Ser1032Ile)
c.3038G>T (p.Ser1013Ile)
c.2972G>T (p.Ser991Ile)
c.1538G>T (p.Ser513Ile)
c.890G>T (p.Ser297Ile)
c.677G>T (p.Ser226Ile)
c.2951G>T (p.Ser984Ile)
c.3086G>T (p.Ser1029Ile)
c.3092G>T (p.Ser1031Ile)
c.3008G>T (p.Ser1003Ile)
c.2993G>T (p.Ser998Ile)
c.2936G>T (p.Ser979Ile)
c.2870G>T (p.Ser957Ile)
c.2231G>T (p.Ser744Ile)
c.2849G>T (p.Ser950Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813458C>ACA375794154EHMT1c.3108C>A (p.Ser1036Arg)
c.3015C>A (p.Ser1005Arg)
c.3148C>A (n.3148C>A)
c.1002C>A (p.Ser334Arg)
c.1965C>A (p.Ser655Arg)
n.634C>A
c.3099C>A (p.Ser1033Arg)
c.3090C>A (p.Ser1030Arg)
c.3117C>A (p.Ser1039Arg)
c.3114C>A (p.Ser1038Arg)
c.3096C>A (p.Ser1032Arg)
c.3039C>A (p.Ser1013Arg)
c.2973C>A (p.Ser991Arg)
c.1539C>A (p.Ser513Arg)
c.891C>A (p.Ser297Arg)
c.678C>A (p.Ser226Arg)
c.2952C>A (p.Ser984Arg)
c.3087C>A (p.Ser1029Arg)
c.3093C>A (p.Ser1031Arg)
c.3009C>A (p.Ser1003Arg)
c.2994C>A (p.Ser998Arg)
c.2937C>A (p.Ser979Arg)
c.2871C>A (p.Ser957Arg)
c.2232C>A (p.Ser744Arg)
c.2850C>A (p.Ser950Arg)
9g.137813458C=CA1884685899EHMT1c.3108C= (p.Ser1036=)
c.3015C= (p.Ser1005=)
c.3148C= (n.3148C=)
c.1002C= (p.Ser334=)
c.1965C= (p.Ser655=)
n.634C=
c.3099C= (p.Ser1033=)
c.3090C= (p.Ser1030=)
c.3117C= (p.Ser1039=)
c.3114C= (p.Ser1038=)
c.3096C= (p.Ser1032=)
c.3039C= (p.Ser1013=)
c.2973C= (p.Ser991=)
c.1539C= (p.Ser513=)
c.891C= (p.Ser297=)
c.678C= (p.Ser226=)
c.2952C= (p.Ser984=)
c.3087C= (p.Ser1029=)
c.3093C= (p.Ser1031=)
c.3009C= (p.Ser1003=)
c.2994C= (p.Ser998=)
c.2937C= (p.Ser979=)
c.2871C= (p.Ser957=)
c.2232C= (p.Ser744=)
c.2850C= (p.Ser950=)
9g.137813458C>GCA375794157EHMT1c.3108C>G (p.Ser1036Arg)
c.3015C>G (p.Ser1005Arg)
c.3148C>G (n.3148C>G)
c.1002C>G (p.Ser334Arg)
c.1965C>G (p.Ser655Arg)
n.634C>G
c.3099C>G (p.Ser1033Arg)
c.3090C>G (p.Ser1030Arg)
c.3117C>G (p.Ser1039Arg)
c.3114C>G (p.Ser1038Arg)
c.3096C>G (p.Ser1032Arg)
c.3039C>G (p.Ser1013Arg)
c.2973C>G (p.Ser991Arg)
c.1539C>G (p.Ser513Arg)
c.891C>G (p.Ser297Arg)
c.678C>G (p.Ser226Arg)
c.2952C>G (p.Ser984Arg)
c.3087C>G (p.Ser1029Arg)
c.3093C>G (p.Ser1031Arg)
c.3009C>G (p.Ser1003Arg)
c.2994C>G (p.Ser998Arg)
c.2937C>G (p.Ser979Arg)
c.2871C>G (p.Ser957Arg)
c.2232C>G (p.Ser744Arg)
c.2850C>G (p.Ser950Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813458C>TCA468161435EHMT1c.3108C>T (p.Ser1036=)
c.3015C>T (p.Ser1005=)
c.3148C>T (n.3148C>T)
c.1002C>T (p.Ser334=)
c.1965C>T (p.Ser655=)
n.634C>T
c.3099C>T (p.Ser1033=)
c.3090C>T (p.Ser1030=)
c.3117C>T (p.Ser1039=)
c.3114C>T (p.Ser1038=)
c.3096C>T (p.Ser1032=)
c.3039C>T (p.Ser1013=)
c.2973C>T (p.Ser991=)
c.1539C>T (p.Ser513=)
c.891C>T (p.Ser297=)
c.678C>T (p.Ser226=)
c.2952C>T (p.Ser984=)
c.3087C>T (p.Ser1029=)
c.3093C>T (p.Ser1031=)
c.3009C>T (p.Ser1003=)
c.2994C>T (p.Ser998=)
c.2937C>T (p.Ser979=)
c.2871C>T (p.Ser957=)
c.2232C>T (p.Ser744=)
c.2850C>T (p.Ser950=)
9g.137813459A>CCA375794158EHMT1c.3109A>C (p.Asn1037His)
c.3016A>C (p.Asn1006His)
c.3149A>C (n.3149A>C)
c.1003A>C (p.Asn335His)
c.1966A>C (p.Asn656His)
n.635A>C
c.3100A>C (p.Asn1034His)
c.3091A>C (p.Asn1031His)
c.3118A>C (p.Asn1040His)
c.3115A>C (p.Asn1039His)
c.3097A>C (p.Asn1033His)
c.3040A>C (p.Asn1014His)
c.2974A>C (p.Asn992His)
c.1540A>C (p.Asn514His)
c.892A>C (p.Asn298His)
c.679A>C (p.Asn227His)
c.2953A>C (p.Asn985His)
c.3088A>C (p.Asn1030His)
c.3094A>C (p.Asn1032His)
c.3010A>C (p.Asn1004His)
c.2995A>C (p.Asn999His)
c.2938A>C (p.Asn980His)
c.2872A>C (p.Asn958His)
c.2233A>C (p.Asn745His)
c.2851A>C (p.Asn951His)
9g.137813459A>GCA375794161EHMT1c.3109A>G (p.Asn1037Asp)
c.3016A>G (p.Asn1006Asp)
c.3149A>G (n.3149A>G)
c.1003A>G (p.Asn335Asp)
c.1966A>G (p.Asn656Asp)
n.635A>G
c.3100A>G (p.Asn1034Asp)
c.3091A>G (p.Asn1031Asp)
c.3118A>G (p.Asn1040Asp)
c.3115A>G (p.Asn1039Asp)
c.3097A>G (p.Asn1033Asp)
c.3040A>G (p.Asn1014Asp)
c.2974A>G (p.Asn992Asp)
c.1540A>G (p.Asn514Asp)
c.892A>G (p.Asn298Asp)
c.679A>G (p.Asn227Asp)
c.2953A>G (p.Asn985Asp)
c.3088A>G (p.Asn1030Asp)
c.3094A>G (p.Asn1032Asp)
c.3010A>G (p.Asn1004Asp)
c.2995A>G (p.Asn999Asp)
c.2938A>G (p.Asn980Asp)
c.2872A>G (p.Asn958Asp)
c.2233A>G (p.Asn745Asp)
c.2851A>G (p.Asn951Asp)
9g.137813459A>TCA375794163EHMT1c.3109A>T (p.Asn1037Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3149A>T (n.3149A>T)
c.1003A>T (p.Asn335Tyr)
c.1966A>T (p.Asn656Tyr)
n.635A>T
c.3100A>T (p.Asn1034Tyr)
c.3091A>T (p.Asn1031Tyr)
c.3118A>T (p.Asn1040Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3097A>T (p.Asn1033Tyr)
c.3040A>T (p.Asn1014Tyr)
c.2974A>T (p.Asn992Tyr)
c.1540A>T (p.Asn514Tyr)
c.892A>T (p.Asn298Tyr)
c.679A>T (p.Asn227Tyr)
c.2953A>T (p.Asn985Tyr)
c.3088A>T (p.Asn1030Tyr)
c.3094A>T (p.Asn1032Tyr)
c.3010A>T (p.Asn1004Tyr)
c.2995A>T (p.Asn999Tyr)
c.2938A>T (p.Asn980Tyr)
c.2872A>T (p.Asn958Tyr)
c.2233A>T (p.Asn745Tyr)
c.2851A>T (p.Asn951Tyr)
9g.137813460A>CCA375794166EHMT1c.3110A>C (p.Asn1037Thr)
c.3017A>C (p.Asn1006Thr)
c.3150A>C (n.3150A>C)
c.1004A>C (p.Asn335Thr)
c.1967A>C (p.Asn656Thr)
n.636A>C
c.3101A>C (p.Asn1034Thr)
c.3092A>C (p.Asn1031Thr)
c.3119A>C (p.Asn1040Thr)
c.3116A>C (p.Asn1039Thr)
c.3098A>C (p.Asn1033Thr)
c.3041A>C (p.Asn1014Thr)
c.2975A>C (p.Asn992Thr)
c.1541A>C (p.Asn514Thr)
c.893A>C (p.Asn298Thr)
c.680A>C (p.Asn227Thr)
c.2954A>C (p.Asn985Thr)
c.3089A>C (p.Asn1030Thr)
c.3095A>C (p.Asn1032Thr)
c.3011A>C (p.Asn1004Thr)
c.2996A>C (p.Asn999Thr)
c.2939A>C (p.Asn980Thr)
c.2873A>C (p.Asn958Thr)
c.2234A>C (p.Asn745Thr)
c.2852A>C (p.Asn951Thr)
9g.137813460A>GCA375794169EHMT1c.3110A>G (p.Asn1037Ser)
c.3017A>G (p.Asn1006Ser)
c.3150A>G (n.3150A>G)
c.1004A>G (p.Asn335Ser)
c.1967A>G (p.Asn656Ser)
n.636A>G
c.3101A>G (p.Asn1034Ser)
c.3092A>G (p.Asn1031Ser)
c.3119A>G (p.Asn1040Ser)
c.3116A>G (p.Asn1039Ser)
c.3098A>G (p.Asn1033Ser)
c.3041A>G (p.Asn1014Ser)
c.2975A>G (p.Asn992Ser)
c.1541A>G (p.Asn514Ser)
c.893A>G (p.Asn298Ser)
c.680A>G (p.Asn227Ser)
c.2954A>G (p.Asn985Ser)
c.3089A>G (p.Asn1030Ser)
c.3095A>G (p.Asn1032Ser)
c.3011A>G (p.Asn1004Ser)
c.2996A>G (p.Asn999Ser)
c.2939A>G (p.Asn980Ser)
c.2873A>G (p.Asn958Ser)
c.2234A>G (p.Asn745Ser)
c.2852A>G (p.Asn951Ser)
 ClinVar gnomAD v4
9g.137813460A>TCA375794172EHMT1c.3110A>T (p.Asn1037Ile)
c.3017A>T (p.Asn1006Ile)
c.3150A>T (n.3150A>T)
c.1004A>T (p.Asn335Ile)
c.1967A>T (p.Asn656Ile)
n.636A>T
c.3101A>T (p.Asn1034Ile)
c.3092A>T (p.Asn1031Ile)
c.3119A>T (p.Asn1040Ile)
c.3116A>T (p.Asn1039Ile)
c.3098A>T (p.Asn1033Ile)
c.3041A>T (p.Asn1014Ile)
c.2975A>T (p.Asn992Ile)
c.1541A>T (p.Asn514Ile)
c.893A>T (p.Asn298Ile)
c.680A>T (p.Asn227Ile)
c.2954A>T (p.Asn985Ile)
c.3089A>T (p.Asn1030Ile)
c.3095A>T (p.Asn1032Ile)
c.3011A>T (p.Asn1004Ile)
c.2996A>T (p.Asn999Ile)
c.2939A>T (p.Asn980Ile)
c.2873A>T (p.Asn958Ile)
c.2234A>T (p.Asn745Ile)
c.2852A>T (p.Asn951Ile)
9g.137813461C>ACA375794176EHMT1c.3111C>A (p.Asn1037Lys)
c.3018C>A (p.Asn1006Lys)
c.3151C>A (n.3151C>A)
c.1005C>A (p.Asn335Lys)
c.1968C>A (p.Asn656Lys)
n.637C>A
c.3102C>A (p.Asn1034Lys)
c.3093C>A (p.Asn1031Lys)
c.3120C>A (p.Asn1040Lys)
c.3117C>A (p.Asn1039Lys)
c.3099C>A (p.Asn1033Lys)
c.3042C>A (p.Asn1014Lys)
c.2976C>A (p.Asn992Lys)
c.1542C>A (p.Asn514Lys)
c.894C>A (p.Asn298Lys)
c.681C>A (p.Asn227Lys)
c.2955C>A (p.Asn985Lys)
c.3090C>A (p.Asn1030Lys)
c.3096C>A (p.Asn1032Lys)
c.3012C>A (p.Asn1004Lys)
c.2997C>A (p.Asn999Lys)
c.2940C>A (p.Asn980Lys)
c.2874C>A (p.Asn958Lys)
c.2235C>A (p.Asn745Lys)
c.2853C>A (p.Asn951Lys)
9g.137813461C=CA1884685900EHMT1c.3111C= (p.Asn1037=)
c.3018C= (p.Asn1006=)
c.3151C= (n.3151C=)
c.1005C= (p.Asn335=)
c.1968C= (p.Asn656=)
n.637C=
c.3102C= (p.Asn1034=)
c.3093C= (p.Asn1031=)
c.3120C= (p.Asn1040=)
c.3117C= (p.Asn1039=)
c.3099C= (p.Asn1033=)
c.3042C= (p.Asn1014=)
c.2976C= (p.Asn992=)
c.1542C= (p.Asn514=)
c.894C= (p.Asn298=)
c.681C= (p.Asn227=)
c.2955C= (p.Asn985=)
c.3090C= (p.Asn1030=)
c.3096C= (p.Asn1032=)
c.3012C= (p.Asn1004=)
c.2997C= (p.Asn999=)
c.2940C= (p.Asn980=)
c.2874C= (p.Asn958=)
c.2235C= (p.Asn745=)
c.2853C= (p.Asn951=)
9g.137813461C>GCA375794177EHMT1c.3111C>G (p.Asn1037Lys)
c.3018C>G (p.Asn1006Lys)
c.3151C>G (n.3151C>G)
c.1005C>G (p.Asn335Lys)
c.1968C>G (p.Asn656Lys)
n.637C>G
c.3102C>G (p.Asn1034Lys)
c.3093C>G (p.Asn1031Lys)
c.3120C>G (p.Asn1040Lys)
c.3117C>G (p.Asn1039Lys)
c.3099C>G (p.Asn1033Lys)
c.3042C>G (p.Asn1014Lys)
c.2976C>G (p.Asn992Lys)
c.1542C>G (p.Asn514Lys)
c.894C>G (p.Asn298Lys)
c.681C>G (p.Asn227Lys)
c.2955C>G (p.Asn985Lys)
c.3090C>G (p.Asn1030Lys)
c.3096C>G (p.Asn1032Lys)
c.3012C>G (p.Asn1004Lys)
c.2997C>G (p.Asn999Lys)
c.2940C>G (p.Asn980Lys)
c.2874C>G (p.Asn958Lys)
c.2235C>G (p.Asn745Lys)
c.2853C>G (p.Asn951Lys)
9g.137813461C>TCA468161436EHMT1c.3111C>T (p.Asn1037=)
c.3018C>T (p.Asn1006=)
c.3151C>T (n.3151C>T)
c.1005C>T (p.Asn335=)
c.1968C>T (p.Asn656=)
n.637C>T
c.3102C>T (p.Asn1034=)
c.3093C>T (p.Asn1031=)
c.3120C>T (p.Asn1040=)
c.3117C>T (p.Asn1039=)
c.3099C>T (p.Asn1033=)
c.3042C>T (p.Asn1014=)
c.2976C>T (p.Asn992=)
c.1542C>T (p.Asn514=)
c.894C>T (p.Asn298=)
c.681C>T (p.Asn227=)
c.2955C>T (p.Asn985=)
c.3090C>T (p.Asn1030=)
c.3096C>T (p.Asn1032=)
c.3012C>T (p.Asn1004=)
c.2997C>T (p.Asn999=)
c.2940C>T (p.Asn980=)
c.2874C>T (p.Asn958=)
c.2235C>T (p.Asn745=)
c.2853C>T (p.Asn951=)
 dbSNP gnomAD v4
9g.137813462T>ACA375794186EHMT1c.3112T>A (p.Tyr1038Asn)
c.3019T>A (p.Tyr1007Asn)
c.3152T>A (n.3152T>A)
c.1006T>A (p.Tyr336Asn)
c.1969T>A (p.Tyr657Asn)
n.638T>A
c.3103T>A (p.Tyr1035Asn)
c.3094T>A (p.Tyr1032Asn)
c.3121T>A (p.Tyr1041Asn)
c.3118T>A (p.Tyr1040Asn)
c.3100T>A (p.Tyr1034Asn)
c.3043T>A (p.Tyr1015Asn)
c.2977T>A (p.Tyr993Asn)
c.1543T>A (p.Tyr515Asn)
c.895T>A (p.Tyr299Asn)
c.682T>A (p.Tyr228Asn)
c.2956T>A (p.Tyr986Asn)
c.3091T>A (p.Tyr1031Asn)
c.3097T>A (p.Tyr1033Asn)
c.3013T>A (p.Tyr1005Asn)
c.2998T>A (p.Tyr1000Asn)
c.2941T>A (p.Tyr981Asn)
c.2875T>A (p.Tyr959Asn)
c.2236T>A (p.Tyr746Asn)
c.2854T>A (p.Tyr952Asn)
9g.137813462T>CCA375794183EHMT1c.3112T>C (p.Tyr1038His)
c.3019T>C (p.Tyr1007His)
c.3152T>C (n.3152T>C)
c.1006T>C (p.Tyr336His)
c.1969T>C (p.Tyr657His)
n.638T>C
c.3103T>C (p.Tyr1035His)
c.3094T>C (p.Tyr1032His)
c.3121T>C (p.Tyr1041His)
c.3118T>C (p.Tyr1040His)
c.3100T>C (p.Tyr1034His)
c.3043T>C (p.Tyr1015His)
c.2977T>C (p.Tyr993His)
c.1543T>C (p.Tyr515His)
c.895T>C (p.Tyr299His)
c.682T>C (p.Tyr228His)
c.2956T>C (p.Tyr986His)
c.3091T>C (p.Tyr1031His)
c.3097T>C (p.Tyr1033His)
c.3013T>C (p.Tyr1005His)
c.2998T>C (p.Tyr1000His)
c.2941T>C (p.Tyr981His)
c.2875T>C (p.Tyr959His)
c.2236T>C (p.Tyr746His)
c.2854T>C (p.Tyr952His)
9g.137813462T>GCA375794181EHMT1c.3112T>G (p.Tyr1038Asp)
c.3019T>G (p.Tyr1007Asp)
c.3152T>G (n.3152T>G)
c.1006T>G (p.Tyr336Asp)
c.1969T>G (p.Tyr657Asp)
n.638T>G
c.3103T>G (p.Tyr1035Asp)
c.3094T>G (p.Tyr1032Asp)
c.3121T>G (p.Tyr1041Asp)
c.3118T>G (p.Tyr1040Asp)
c.3100T>G (p.Tyr1034Asp)
c.3043T>G (p.Tyr1015Asp)
c.2977T>G (p.Tyr993Asp)
c.1543T>G (p.Tyr515Asp)
c.895T>G (p.Tyr299Asp)
c.682T>G (p.Tyr228Asp)
c.2956T>G (p.Tyr986Asp)
c.3091T>G (p.Tyr1031Asp)
c.3097T>G (p.Tyr1033Asp)
c.3013T>G (p.Tyr1005Asp)
c.2998T>G (p.Tyr1000Asp)
c.2941T>G (p.Tyr981Asp)
c.2875T>G (p.Tyr959Asp)
c.2236T>G (p.Tyr746Asp)
c.2854T>G (p.Tyr952Asp)
9g.137813463A>CCA375794195EHMT1c.3113A>C (p.Tyr1038Ser)
c.3020A>C (p.Tyr1007Ser)
c.3153A>C (n.3153A>C)
c.1007A>C (p.Tyr336Ser)
c.1970A>C (p.Tyr657Ser)
n.639A>C
c.3104A>C (p.Tyr1035Ser)
c.3095A>C (p.Tyr1032Ser)
c.3122A>C (p.Tyr1041Ser)
c.3119A>C (p.Tyr1040Ser)
c.3101A>C (p.Tyr1034Ser)
c.3044A>C (p.Tyr1015Ser)
c.2978A>C (p.Tyr993Ser)
c.1544A>C (p.Tyr515Ser)
c.896A>C (p.Tyr299Ser)
c.683A>C (p.Tyr228Ser)
c.2957A>C (p.Tyr986Ser)
c.3092A>C (p.Tyr1031Ser)
c.3098A>C (p.Tyr1033Ser)
c.3014A>C (p.Tyr1005Ser)
c.2999A>C (p.Tyr1000Ser)
c.2942A>C (p.Tyr981Ser)
c.2876A>C (p.Tyr959Ser)
c.2237A>C (p.Tyr746Ser)
c.2855A>C (p.Tyr952Ser)
 ClinVar
9g.137813463A>GCA375794190EHMT1c.3113A>G (p.Tyr1038Cys)
c.3020A>G (p.Tyr1007Cys)
c.3153A>G (n.3153A>G)
c.1007A>G (p.Tyr336Cys)
c.1970A>G (p.Tyr657Cys)
n.639A>G
c.3104A>G (p.Tyr1035Cys)
c.3095A>G (p.Tyr1032Cys)
c.3122A>G (p.Tyr1041Cys)
c.3119A>G (p.Tyr1040Cys)
c.3101A>G (p.Tyr1034Cys)
c.3044A>G (p.Tyr1015Cys)
c.2978A>G (p.Tyr993Cys)
c.1544A>G (p.Tyr515Cys)
c.896A>G (p.Tyr299Cys)
c.683A>G (p.Tyr228Cys)
c.2957A>G (p.Tyr986Cys)
c.3092A>G (p.Tyr1031Cys)
c.3098A>G (p.Tyr1033Cys)
c.3014A>G (p.Tyr1005Cys)
c.2999A>G (p.Tyr1000Cys)
c.2942A>G (p.Tyr981Cys)
c.2876A>G (p.Tyr959Cys)
c.2237A>G (p.Tyr746Cys)
c.2855A>G (p.Tyr952Cys)
9g.137813463A>TCA375794192EHMT1c.3113A>T (p.Tyr1038Phe)
c.3020A>T (p.Tyr1007Phe)
c.3153A>T (n.3153A>T)
c.1007A>T (p.Tyr336Phe)
c.1970A>T (p.Tyr657Phe)
n.639A>T
c.3104A>T (p.Tyr1035Phe)
c.3095A>T (p.Tyr1032Phe)
c.3122A>T (p.Tyr1041Phe)
c.3119A>T (p.Tyr1040Phe)
c.3101A>T (p.Tyr1034Phe)
c.3044A>T (p.Tyr1015Phe)
c.2978A>T (p.Tyr993Phe)
c.1544A>T (p.Tyr515Phe)
c.896A>T (p.Tyr299Phe)
c.683A>T (p.Tyr228Phe)
c.2957A>T (p.Tyr986Phe)
c.3092A>T (p.Tyr1031Phe)
c.3098A>T (p.Tyr1033Phe)
c.3014A>T (p.Tyr1005Phe)
c.2999A>T (p.Tyr1000Phe)
c.2942A>T (p.Tyr981Phe)
c.2876A>T (p.Tyr959Phe)
c.2237A>T (p.Tyr746Phe)
c.2855A>T (p.Tyr952Phe)
9g.137813464C>ACA375794199EHMT1c.3114C>A (p.Tyr1038Ter)
c.3021C>A (p.Tyr1007Ter)
c.3154C>A (n.3154C>A)
c.1008C>A (p.Tyr336Ter)
c.1971C>A (p.Tyr657Ter)
n.640C>A
c.3105C>A (p.Tyr1035Ter)
c.3096C>A (p.Tyr1032Ter)
c.3123C>A (p.Tyr1041Ter)
c.3120C>A (p.Tyr1040Ter)
c.3102C>A (p.Tyr1034Ter)
c.3045C>A (p.Tyr1015Ter)
c.2979C>A (p.Tyr993Ter)
c.1545C>A (p.Tyr515Ter)
c.897C>A (p.Tyr299Ter)
c.684C>A (p.Tyr228Ter)
c.2958C>A (p.Tyr986Ter)
c.3093C>A (p.Tyr1031Ter)
c.3099C>A (p.Tyr1033Ter)
c.3015C>A (p.Tyr1005Ter)
c.3000C>A (p.Tyr1000Ter)
c.2943C>A (p.Tyr981Ter)
c.2877C>A (p.Tyr959Ter)
c.2238C>A (p.Tyr746Ter)
c.2856C>A (p.Tyr952Ter)
9g.137813464C=CA1884685901EHMT1c.3114C= (p.Tyr1038=)
c.3021C= (p.Tyr1007=)
c.3154C= (n.3154C=)
c.1008C= (p.Tyr336=)
c.1971C= (p.Tyr657=)
n.640C=
c.3105C= (p.Tyr1035=)
c.3096C= (p.Tyr1032=)
c.3123C= (p.Tyr1041=)
c.3120C= (p.Tyr1040=)
c.3102C= (p.Tyr1034=)
c.3045C= (p.Tyr1015=)
c.2979C= (p.Tyr993=)
c.1545C= (p.Tyr515=)
c.897C= (p.Tyr299=)
c.684C= (p.Tyr228=)
c.2958C= (p.Tyr986=)
c.3093C= (p.Tyr1031=)
c.3099C= (p.Tyr1033=)
c.3015C= (p.Tyr1005=)
c.3000C= (p.Tyr1000=)
c.2943C= (p.Tyr981=)
c.2877C= (p.Tyr959=)
c.2238C= (p.Tyr746=)
c.2856C= (p.Tyr952=)
9g.137813464C>GCA375794212EHMT1c.3114C>G (p.Tyr1038Ter)
c.3021C>G (p.Tyr1007Ter)
c.3154C>G (n.3154C>G)
c.1008C>G (p.Tyr336Ter)
c.1971C>G (p.Tyr657Ter)
n.640C>G
c.3105C>G (p.Tyr1035Ter)
c.3096C>G (p.Tyr1032Ter)
c.3123C>G (p.Tyr1041Ter)
c.3120C>G (p.Tyr1040Ter)
c.3102C>G (p.Tyr1034Ter)
c.3045C>G (p.Tyr1015Ter)
c.2979C>G (p.Tyr993Ter)
c.1545C>G (p.Tyr515Ter)
c.897C>G (p.Tyr299Ter)
c.684C>G (p.Tyr228Ter)
c.2958C>G (p.Tyr986Ter)
c.3093C>G (p.Tyr1031Ter)
c.3099C>G (p.Tyr1033Ter)
c.3015C>G (p.Tyr1005Ter)
c.3000C>G (p.Tyr1000Ter)
c.2943C>G (p.Tyr981Ter)
c.2877C>G (p.Tyr959Ter)
c.2238C>G (p.Tyr746Ter)
c.2856C>G (p.Tyr952Ter)
9g.137813464C>TCA5375168EHMT1c.3114C>T (p.Tyr1038=)
c.3021C>T (p.Tyr1007=)
c.3154C>T (n.3154C>T)
c.1008C>T (p.Tyr336=)
c.1971C>T (p.Tyr657=)
n.640C>T
c.3105C>T (p.Tyr1035=)
c.3096C>T (p.Tyr1032=)
c.3123C>T (p.Tyr1041=)
c.3120C>T (p.Tyr1040=)
c.3102C>T (p.Tyr1034=)
c.3045C>T (p.Tyr1015=)
c.2979C>T (p.Tyr993=)
c.1545C>T (p.Tyr515=)
c.897C>T (p.Tyr299=)
c.684C>T (p.Tyr228=)
c.2958C>T (p.Tyr986=)
c.3093C>T (p.Tyr1031=)
c.3099C>T (p.Tyr1033=)
c.3015C>T (p.Tyr1005=)
c.3000C>T (p.Tyr1000=)
c.2943C>T (p.Tyr981=)
c.2877C>T (p.Tyr959=)
c.2238C>T (p.Tyr746=)
c.2856C>T (p.Tyr952=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813465A=CA1884685902EHMT1c.3115A= (p.Lys1039=)
c.3022A= (p.Lys1008=)
c.3155A= (n.3155A=)
c.1009A= (p.Lys337=)
c.1972A= (p.Lys658=)
n.641A=
c.3106A= (p.Lys1036=)
c.3097A= (p.Lys1033=)
c.3124A= (p.Lys1042=)
c.3121A= (p.Lys1041=)
c.3103A= (p.Lys1035=)
c.3046A= (p.Lys1016=)
c.2980A= (p.Lys994=)
c.1546A= (p.Lys516=)
c.898A= (p.Lys300=)
c.685A= (p.Lys229=)
c.2959A= (p.Lys987=)
c.3094A= (p.Lys1032=)
c.3100A= (p.Lys1034=)
c.3016A= (p.Lys1006=)
c.3001A= (p.Lys1001=)
c.2944A= (p.Lys982=)
c.2878A= (p.Lys960=)
c.2239A= (p.Lys747=)
c.2857A= (p.Lys953=)
9g.137813465A>CCA375794217EHMT1c.3115A>C (p.Lys1039Gln)
c.3022A>C (p.Lys1008Gln)
c.3155A>C (n.3155A>C)
c.1009A>C (p.Lys337Gln)
c.1972A>C (p.Lys658Gln)
n.641A>C
c.3106A>C (p.Lys1036Gln)
c.3097A>C (p.Lys1033Gln)
c.3124A>C (p.Lys1042Gln)
c.3121A>C (p.Lys1041Gln)
c.3103A>C (p.Lys1035Gln)
c.3046A>C (p.Lys1016Gln)
c.2980A>C (p.Lys994Gln)
c.1546A>C (p.Lys516Gln)
c.898A>C (p.Lys300Gln)
c.685A>C (p.Lys229Gln)
c.2959A>C (p.Lys987Gln)
c.3094A>C (p.Lys1032Gln)
c.3100A>C (p.Lys1034Gln)
c.3016A>C (p.Lys1006Gln)
c.3001A>C (p.Lys1001Gln)
c.2944A>C (p.Lys982Gln)
c.2878A>C (p.Lys960Gln)
c.2239A>C (p.Lys747Gln)
c.2857A>C (p.Lys953Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.137813465A>GCA375794221EHMT1c.3115A>G (p.Lys1039Glu)
c.3022A>G (p.Lys1008Glu)
c.3155A>G (n.3155A>G)
c.1009A>G (p.Lys337Glu)
c.1972A>G (p.Lys658Glu)
n.641A>G
c.3106A>G (p.Lys1036Glu)
c.3097A>G (p.Lys1033Glu)
c.3124A>G (p.Lys1042Glu)
c.3121A>G (p.Lys1041Glu)
c.3103A>G (p.Lys1035Glu)
c.3046A>G (p.Lys1016Glu)
c.2980A>G (p.Lys994Glu)
c.1546A>G (p.Lys516Glu)
c.898A>G (p.Lys300Glu)
c.685A>G (p.Lys229Glu)
c.2959A>G (p.Lys987Glu)
c.3094A>G (p.Lys1032Glu)
c.3100A>G (p.Lys1034Glu)
c.3016A>G (p.Lys1006Glu)
c.3001A>G (p.Lys1001Glu)
c.2944A>G (p.Lys982Glu)
c.2878A>G (p.Lys960Glu)
c.2239A>G (p.Lys747Glu)
c.2857A>G (p.Lys953Glu)
9g.137813465A>TCA375794224EHMT1c.3115A>T (p.Lys1039Ter)
c.3022A>T (p.Lys1008Ter)
c.3155A>T (n.3155A>T)
c.1009A>T (p.Lys337Ter)
c.1972A>T (p.Lys658Ter)
n.641A>T
c.3106A>T (p.Lys1036Ter)
c.3097A>T (p.Lys1033Ter)
c.3124A>T (p.Lys1042Ter)
c.3121A>T (p.Lys1041Ter)
c.3103A>T (p.Lys1035Ter)
c.3046A>T (p.Lys1016Ter)
c.2980A>T (p.Lys994Ter)
c.1546A>T (p.Lys516Ter)
c.898A>T (p.Lys300Ter)
c.685A>T (p.Lys229Ter)
c.2959A>T (p.Lys987Ter)
c.3094A>T (p.Lys1032Ter)
c.3100A>T (p.Lys1034Ter)
c.3016A>T (p.Lys1006Ter)
c.3001A>T (p.Lys1001Ter)
c.2944A>T (p.Lys982Ter)
c.2878A>T (p.Lys960Ter)
c.2239A>T (p.Lys747Ter)
c.2857A>T (p.Lys953Ter)
9g.137813466A>CCA375794228EHMT1c.3116A>C (p.Lys1039Thr)
c.3023A>C (p.Lys1008Thr)
c.3156A>C (n.3156A>C)
c.1010A>C (p.Lys337Thr)
c.1973A>C (p.Lys658Thr)
n.642A>C
c.3107A>C (p.Lys1036Thr)
c.3098A>C (p.Lys1033Thr)
c.3125A>C (p.Lys1042Thr)
c.3122A>C (p.Lys1041Thr)
c.3104A>C (p.Lys1035Thr)
c.3047A>C (p.Lys1016Thr)
c.2981A>C (p.Lys994Thr)
c.1547A>C (p.Lys516Thr)
c.899A>C (p.Lys300Thr)
c.686A>C (p.Lys229Thr)
c.2960A>C (p.Lys987Thr)
c.3095A>C (p.Lys1032Thr)
c.3101A>C (p.Lys1034Thr)
c.3017A>C (p.Lys1006Thr)
c.3002A>C (p.Lys1001Thr)
c.2945A>C (p.Lys982Thr)
c.2879A>C (p.Lys960Thr)
c.2240A>C (p.Lys747Thr)
c.2858A>C (p.Lys953Thr)
9g.137813466A>GCA375794232EHMT1c.3116A>G (p.Lys1039Arg)
c.3023A>G (p.Lys1008Arg)
c.3156A>G (n.3156A>G)
c.1010A>G (p.Lys337Arg)
c.1973A>G (p.Lys658Arg)
n.642A>G
c.3107A>G (p.Lys1036Arg)
c.3098A>G (p.Lys1033Arg)
c.3125A>G (p.Lys1042Arg)
c.3122A>G (p.Lys1041Arg)
c.3104A>G (p.Lys1035Arg)
c.3047A>G (p.Lys1016Arg)
c.2981A>G (p.Lys994Arg)
c.1547A>G (p.Lys516Arg)
c.899A>G (p.Lys300Arg)
c.686A>G (p.Lys229Arg)
c.2960A>G (p.Lys987Arg)
c.3095A>G (p.Lys1032Arg)
c.3101A>G (p.Lys1034Arg)
c.3017A>G (p.Lys1006Arg)
c.3002A>G (p.Lys1001Arg)
c.2945A>G (p.Lys982Arg)
c.2879A>G (p.Lys960Arg)
c.2240A>G (p.Lys747Arg)
c.2858A>G (p.Lys953Arg)
9g.137813466A>TCA375794235EHMT1c.3116A>T (p.Lys1039Met)
c.3023A>T (p.Lys1008Met)
c.3156A>T (n.3156A>T)
c.1010A>T (p.Lys337Met)
c.1973A>T (p.Lys658Met)
n.642A>T
c.3107A>T (p.Lys1036Met)
c.3098A>T (p.Lys1033Met)
c.3125A>T (p.Lys1042Met)
c.3122A>T (p.Lys1041Met)
c.3104A>T (p.Lys1035Met)
c.3047A>T (p.Lys1016Met)
c.2981A>T (p.Lys994Met)
c.1547A>T (p.Lys516Met)
c.899A>T (p.Lys300Met)
c.686A>T (p.Lys229Met)
c.2960A>T (p.Lys987Met)
c.3095A>T (p.Lys1032Met)
c.3101A>T (p.Lys1034Met)
c.3017A>T (p.Lys1006Met)
c.3002A>T (p.Lys1001Met)
c.2945A>T (p.Lys982Met)
c.2879A>T (p.Lys960Met)
c.2240A>T (p.Lys747Met)
c.2858A>T (p.Lys953Met)
9g.137813467G>ACA468161437EHMT1c.3117G>A (p.Lys1039=)
c.3024G>A (p.Lys1008=)
c.3157G>A (n.3157G>A)
c.1011G>A (p.Lys337=)
c.1974G>A (p.Lys658=)
n.643G>A
c.3108G>A (p.Lys1036=)
c.3099G>A (p.Lys1033=)
c.3126G>A (p.Lys1042=)
c.3123G>A (p.Lys1041=)
c.3105G>A (p.Lys1035=)
c.3048G>A (p.Lys1016=)
c.2982G>A (p.Lys994=)
c.1548G>A (p.Lys516=)
c.900G>A (p.Lys300=)
c.687G>A (p.Lys229=)
c.2961G>A (p.Lys987=)
c.3096G>A (p.Lys1032=)
c.3102G>A (p.Lys1034=)
c.3018G>A (p.Lys1006=)
c.3003G>A (p.Lys1001=)
c.2946G>A (p.Lys982=)
c.2880G>A (p.Lys960=)
c.2241G>A (p.Lys747=)
c.2859G>A (p.Lys953=)
9g.137813467G>CCA375794238EHMT1c.3117G>C (p.Lys1039Asn)
c.3024G>C (p.Lys1008Asn)
c.3157G>C (n.3157G>C)
c.1011G>C (p.Lys337Asn)
c.1974G>C (p.Lys658Asn)
n.643G>C
c.3108G>C (p.Lys1036Asn)
c.3099G>C (p.Lys1033Asn)
c.3126G>C (p.Lys1042Asn)
c.3123G>C (p.Lys1041Asn)
c.3105G>C (p.Lys1035Asn)
c.3048G>C (p.Lys1016Asn)
c.2982G>C (p.Lys994Asn)
c.1548G>C (p.Lys516Asn)
c.900G>C (p.Lys300Asn)
c.687G>C (p.Lys229Asn)
c.2961G>C (p.Lys987Asn)
c.3096G>C (p.Lys1032Asn)
c.3102G>C (p.Lys1034Asn)
c.3018G>C (p.Lys1006Asn)
c.3003G>C (p.Lys1001Asn)
c.2946G>C (p.Lys982Asn)
c.2880G>C (p.Lys960Asn)
c.2241G>C (p.Lys747Asn)
c.2859G>C (p.Lys953Asn)
9g.137813467G>TCA375794242EHMT1c.3117G>T (p.Lys1039Asn)
c.3024G>T (p.Lys1008Asn)
c.3157G>T (n.3157G>T)
c.1011G>T (p.Lys337Asn)
c.1974G>T (p.Lys658Asn)
n.643G>T
c.3108G>T (p.Lys1036Asn)
c.3099G>T (p.Lys1033Asn)
c.3126G>T (p.Lys1042Asn)
c.3123G>T (p.Lys1041Asn)
c.3105G>T (p.Lys1035Asn)
c.3048G>T (p.Lys1016Asn)
c.2982G>T (p.Lys994Asn)
c.1548G>T (p.Lys516Asn)
c.900G>T (p.Lys300Asn)
c.687G>T (p.Lys229Asn)
c.2961G>T (p.Lys987Asn)
c.3096G>T (p.Lys1032Asn)
c.3102G>T (p.Lys1034Asn)
c.3018G>T (p.Lys1006Asn)
c.3003G>T (p.Lys1001Asn)
c.2946G>T (p.Lys982Asn)
c.2880G>T (p.Lys960Asn)
c.2241G>T (p.Lys747Asn)
c.2859G>T (p.Lys953Asn)
9g.137813468T>ACA375794260EHMT1c.3118T>A (p.Tyr1040Asn)
c.3025T>A (p.Tyr1009Asn)
c.3158T>A (n.3158T>A)
c.1012T>A (p.Tyr338Asn)
c.1975T>A (p.Tyr659Asn)
n.644T>A
c.3109T>A (p.Tyr1037Asn)
c.3100T>A (p.Tyr1034Asn)
c.3127T>A (p.Tyr1043Asn)
c.3124T>A (p.Tyr1042Asn)
c.3106T>A (p.Tyr1036Asn)
c.3049T>A (p.Tyr1017Asn)
c.2983T>A (p.Tyr995Asn)
c.1549T>A (p.Tyr517Asn)
c.901T>A (p.Tyr301Asn)
c.688T>A (p.Tyr230Asn)
c.2962T>A (p.Tyr988Asn)
c.3097T>A (p.Tyr1033Asn)
c.3103T>A (p.Tyr1035Asn)
c.3019T>A (p.Tyr1007Asn)
c.3004T>A (p.Tyr1002Asn)
c.2947T>A (p.Tyr983Asn)
c.2881T>A (p.Tyr961Asn)
c.2242T>A (p.Tyr748Asn)
c.2860T>A (p.Tyr954Asn)
9g.137813468T>CCA375794249EHMT1c.3118T>C (p.Tyr1040His)
c.3025T>C (p.Tyr1009His)
c.3158T>C (n.3158T>C)
c.1012T>C (p.Tyr338His)
c.1975T>C (p.Tyr659His)
n.644T>C
c.3109T>C (p.Tyr1037His)
c.3100T>C (p.Tyr1034His)
c.3127T>C (p.Tyr1043His)
c.3124T>C (p.Tyr1042His)
c.3106T>C (p.Tyr1036His)
c.3049T>C (p.Tyr1017His)
c.2983T>C (p.Tyr995His)
c.1549T>C (p.Tyr517His)
c.901T>C (p.Tyr301His)
c.688T>C (p.Tyr230His)
c.2962T>C (p.Tyr988His)
c.3097T>C (p.Tyr1033His)
c.3103T>C (p.Tyr1035His)
c.3019T>C (p.Tyr1007His)
c.3004T>C (p.Tyr1002His)
c.2947T>C (p.Tyr983His)
c.2881T>C (p.Tyr961His)
c.2242T>C (p.Tyr748His)
c.2860T>C (p.Tyr954His)
9g.137813468T>GCA375794259EHMT1c.3118T>G (p.Tyr1040Asp)
c.3025T>G (p.Tyr1009Asp)
c.3158T>G (n.3158T>G)
c.1012T>G (p.Tyr338Asp)
c.1975T>G (p.Tyr659Asp)
n.644T>G
c.3109T>G (p.Tyr1037Asp)
c.3100T>G (p.Tyr1034Asp)
c.3127T>G (p.Tyr1043Asp)
c.3124T>G (p.Tyr1042Asp)
c.3106T>G (p.Tyr1036Asp)
c.3049T>G (p.Tyr1017Asp)
c.2983T>G (p.Tyr995Asp)
c.1549T>G (p.Tyr517Asp)
c.901T>G (p.Tyr301Asp)
c.688T>G (p.Tyr230Asp)
c.2962T>G (p.Tyr988Asp)
c.3097T>G (p.Tyr1033Asp)
c.3103T>G (p.Tyr1035Asp)
c.3019T>G (p.Tyr1007Asp)
c.3004T>G (p.Tyr1002Asp)
c.2947T>G (p.Tyr983Asp)
c.2881T>G (p.Tyr961Asp)
c.2242T>G (p.Tyr748Asp)
c.2860T>G (p.Tyr954Asp)
9g.137813469A=CA1884685903EHMT1c.3119A= (p.Tyr1040=)
c.3026A= (p.Tyr1009=)
c.3159A= (n.3159A=)
c.1013A= (p.Tyr338=)
c.1976A= (p.Tyr659=)
n.645A=
c.3110A= (p.Tyr1037=)
c.3101A= (p.Tyr1034=)
c.3128A= (p.Tyr1043=)
c.3125A= (p.Tyr1042=)
c.3107A= (p.Tyr1036=)
c.3050A= (p.Tyr1017=)
c.2984A= (p.Tyr995=)
c.1550A= (p.Tyr517=)
c.902A= (p.Tyr301=)
c.689A= (p.Tyr230=)
c.2963A= (p.Tyr988=)
c.3098A= (p.Tyr1033=)
c.3104A= (p.Tyr1035=)
c.3020A= (p.Tyr1007=)
c.3005A= (p.Tyr1002=)
c.2948A= (p.Tyr983=)
c.2882A= (p.Tyr961=)
c.2243A= (p.Tyr748=)
c.2861A= (p.Tyr954=)
9g.137813469A>CCA375794261EHMT1c.3119A>C (p.Tyr1040Ser)
c.3026A>C (p.Tyr1009Ser)
c.3159A>C (n.3159A>C)
c.1013A>C (p.Tyr338Ser)
c.1976A>C (p.Tyr659Ser)
n.645A>C
c.3110A>C (p.Tyr1037Ser)
c.3101A>C (p.Tyr1034Ser)
c.3128A>C (p.Tyr1043Ser)
c.3125A>C (p.Tyr1042Ser)
c.3107A>C (p.Tyr1036Ser)
c.3050A>C (p.Tyr1017Ser)
c.2984A>C (p.Tyr995Ser)
c.1550A>C (p.Tyr517Ser)
c.902A>C (p.Tyr301Ser)
c.689A>C (p.Tyr230Ser)
c.2963A>C (p.Tyr988Ser)
c.3098A>C (p.Tyr1033Ser)
c.3104A>C (p.Tyr1035Ser)
c.3020A>C (p.Tyr1007Ser)
c.3005A>C (p.Tyr1002Ser)
c.2948A>C (p.Tyr983Ser)
c.2882A>C (p.Tyr961Ser)
c.2243A>C (p.Tyr748Ser)
c.2861A>C (p.Tyr954Ser)
9g.137813469A>GCA375794262EHMT1c.3119A>G (p.Tyr1040Cys)
c.3026A>G (p.Tyr1009Cys)
c.3159A>G (n.3159A>G)
c.1013A>G (p.Tyr338Cys)
c.1976A>G (p.Tyr659Cys)
n.645A>G
c.3110A>G (p.Tyr1037Cys)
c.3101A>G (p.Tyr1034Cys)
c.3128A>G (p.Tyr1043Cys)
c.3125A>G (p.Tyr1042Cys)
c.3107A>G (p.Tyr1036Cys)
c.3050A>G (p.Tyr1017Cys)
c.2984A>G (p.Tyr995Cys)
c.1550A>G (p.Tyr517Cys)
c.902A>G (p.Tyr301Cys)
c.689A>G (p.Tyr230Cys)
c.2963A>G (p.Tyr988Cys)
c.3098A>G (p.Tyr1033Cys)
c.3104A>G (p.Tyr1035Cys)
c.3020A>G (p.Tyr1007Cys)
c.3005A>G (p.Tyr1002Cys)
c.2948A>G (p.Tyr983Cys)
c.2882A>G (p.Tyr961Cys)
c.2243A>G (p.Tyr748Cys)
c.2861A>G (p.Tyr954Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813469A>TCA375794265EHMT1c.3119A>T (p.Tyr1040Phe)
c.3026A>T (p.Tyr1009Phe)
c.3159A>T (n.3159A>T)
c.1013A>T (p.Tyr338Phe)
c.1976A>T (p.Tyr659Phe)
n.645A>T
c.3110A>T (p.Tyr1037Phe)
c.3101A>T (p.Tyr1034Phe)
c.3128A>T (p.Tyr1043Phe)
c.3125A>T (p.Tyr1042Phe)
c.3107A>T (p.Tyr1036Phe)
c.3050A>T (p.Tyr1017Phe)
c.2984A>T (p.Tyr995Phe)
c.1550A>T (p.Tyr517Phe)
c.902A>T (p.Tyr301Phe)
c.689A>T (p.Tyr230Phe)
c.2963A>T (p.Tyr988Phe)
c.3098A>T (p.Tyr1033Phe)
c.3104A>T (p.Tyr1035Phe)
c.3020A>T (p.Tyr1007Phe)
c.3005A>T (p.Tyr1002Phe)
c.2948A>T (p.Tyr983Phe)
c.2882A>T (p.Tyr961Phe)
c.2243A>T (p.Tyr748Phe)
c.2861A>T (p.Tyr954Phe)
9g.137813470C>ACA375794267EHMT1c.3120C>A (p.Tyr1040Ter)
c.3027C>A (p.Tyr1009Ter)
c.3160C>A (n.3160C>A)
c.1014C>A (p.Tyr338Ter)
c.1977C>A (p.Tyr659Ter)
n.646C>A
c.3111C>A (p.Tyr1037Ter)
c.3102C>A (p.Tyr1034Ter)
c.3129C>A (p.Tyr1043Ter)
c.3126C>A (p.Tyr1042Ter)
c.3108C>A (p.Tyr1036Ter)
c.3051C>A (p.Tyr1017Ter)
c.2985C>A (p.Tyr995Ter)
c.1551C>A (p.Tyr517Ter)
c.903C>A (p.Tyr301Ter)
c.690C>A (p.Tyr230Ter)
c.2964C>A (p.Tyr988Ter)
c.3099C>A (p.Tyr1033Ter)
c.3105C>A (p.Tyr1035Ter)
c.3021C>A (p.Tyr1007Ter)
c.3006C>A (p.Tyr1002Ter)
c.2949C>A (p.Tyr983Ter)
c.2883C>A (p.Tyr961Ter)
c.2244C>A (p.Tyr748Ter)
c.2862C>A (p.Tyr954Ter)
9g.137813470C=CA1884685904EHMT1c.3120C= (p.Tyr1040=)
c.3027C= (p.Tyr1009=)
c.3160C= (n.3160C=)
c.1014C= (p.Tyr338=)
c.1977C= (p.Tyr659=)
n.646C=
c.3111C= (p.Tyr1037=)
c.3102C= (p.Tyr1034=)
c.3129C= (p.Tyr1043=)
c.3126C= (p.Tyr1042=)
c.3108C= (p.Tyr1036=)
c.3051C= (p.Tyr1017=)
c.2985C= (p.Tyr995=)
c.1551C= (p.Tyr517=)
c.903C= (p.Tyr301=)
c.690C= (p.Tyr230=)
c.2964C= (p.Tyr988=)
c.3099C= (p.Tyr1033=)
c.3105C= (p.Tyr1035=)
c.3021C= (p.Tyr1007=)
c.3006C= (p.Tyr1002=)
c.2949C= (p.Tyr983=)
c.2883C= (p.Tyr961=)
c.2244C= (p.Tyr748=)
c.2862C= (p.Tyr954=)
9g.137813470C>GCA375794269EHMT1c.3120C>G (p.Tyr1040Ter)
c.3027C>G (p.Tyr1009Ter)
c.3160C>G (n.3160C>G)
c.1014C>G (p.Tyr338Ter)
c.1977C>G (p.Tyr659Ter)
n.646C>G
c.3111C>G (p.Tyr1037Ter)
c.3102C>G (p.Tyr1034Ter)
c.3129C>G (p.Tyr1043Ter)
c.3126C>G (p.Tyr1042Ter)
c.3108C>G (p.Tyr1036Ter)
c.3051C>G (p.Tyr1017Ter)
c.2985C>G (p.Tyr995Ter)
c.1551C>G (p.Tyr517Ter)
c.903C>G (p.Tyr301Ter)
c.690C>G (p.Tyr230Ter)
c.2964C>G (p.Tyr988Ter)
c.3099C>G (p.Tyr1033Ter)
c.3105C>G (p.Tyr1035Ter)
c.3021C>G (p.Tyr1007Ter)
c.3006C>G (p.Tyr1002Ter)
c.2949C>G (p.Tyr983Ter)
c.2883C>G (p.Tyr961Ter)
c.2244C>G (p.Tyr748Ter)
c.2862C>G (p.Tyr954Ter)
9g.137813470C>TCA5375169EHMT1c.3120C>T (p.Tyr1040=)
c.3027C>T (p.Tyr1009=)
c.3160C>T (n.3160C>T)
c.1014C>T (p.Tyr338=)
c.1977C>T (p.Tyr659=)
n.646C>T
c.3111C>T (p.Tyr1037=)
c.3102C>T (p.Tyr1034=)
c.3129C>T (p.Tyr1043=)
c.3126C>T (p.Tyr1042=)
c.3108C>T (p.Tyr1036=)
c.3051C>T (p.Tyr1017=)
c.2985C>T (p.Tyr995=)
c.1551C>T (p.Tyr517=)
c.903C>T (p.Tyr301=)
c.690C>T (p.Tyr230=)
c.2964C>T (p.Tyr988=)
c.3099C>T (p.Tyr1033=)
c.3105C>T (p.Tyr1035=)
c.3021C>T (p.Tyr1007=)
c.3006C>T (p.Tyr1002=)
c.2949C>T (p.Tyr983=)
c.2883C>T (p.Tyr961=)
c.2244C>T (p.Tyr748=)
c.2862C>T (p.Tyr954=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813471G>ACA5375170EHMT1c.3121G>A (p.Val1041Ile)
c.3028G>A (p.Val1010Ile)
c.3161G>A (n.3161G>A)
c.1015G>A (p.Val339Ile)
c.1978G>A (p.Val660Ile)
n.647G>A
c.3112G>A (p.Val1038Ile)
c.3103G>A (p.Val1035Ile)
c.3130G>A (p.Val1044Ile)
c.3127G>A (p.Val1043Ile)
c.3109G>A (p.Val1037Ile)
c.3052G>A (p.Val1018Ile)
c.2986G>A (p.Val996Ile)
c.1552G>A (p.Val518Ile)
c.904G>A (p.Val302Ile)
c.691G>A (p.Val231Ile)
c.2965G>A (p.Val989Ile)
c.3100G>A (p.Val1034Ile)
c.3106G>A (p.Val1036Ile)
c.3022G>A (p.Val1008Ile)
c.3007G>A (p.Val1003Ile)
c.2950G>A (p.Val984Ile)
c.2884G>A (p.Val962Ile)
c.2245G>A (p.Val749Ile)
c.2863G>A (p.Val955Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813471G>CCA375794298EHMT1c.3121G>C (p.Val1041Leu)
c.3028G>C (p.Val1010Leu)
c.3161G>C (n.3161G>C)
c.1015G>C (p.Val339Leu)
c.1978G>C (p.Val660Leu)
n.647G>C
c.3112G>C (p.Val1038Leu)
c.3103G>C (p.Val1035Leu)
c.3130G>C (p.Val1044Leu)
c.3127G>C (p.Val1043Leu)
c.3109G>C (p.Val1037Leu)
c.3052G>C (p.Val1018Leu)
c.2986G>C (p.Val996Leu)
c.1552G>C (p.Val518Leu)
c.904G>C (p.Val302Leu)
c.691G>C (p.Val231Leu)
c.2965G>C (p.Val989Leu)
c.3100G>C (p.Val1034Leu)
c.3106G>C (p.Val1036Leu)
c.3022G>C (p.Val1008Leu)
c.3007G>C (p.Val1003Leu)
c.2950G>C (p.Val984Leu)
c.2884G>C (p.Val962Leu)
c.2245G>C (p.Val749Leu)
c.2863G>C (p.Val955Leu)
9g.137813471G=CA1884685905EHMT1c.3121G= (p.Val1041=)
c.3028G= (p.Val1010=)
c.3161G= (n.3161G=)
c.1015G= (p.Val339=)
c.1978G= (p.Val660=)
n.647G=
c.3112G= (p.Val1038=)
c.3103G= (p.Val1035=)
c.3130G= (p.Val1044=)
c.3127G= (p.Val1043=)
c.3109G= (p.Val1037=)
c.3052G= (p.Val1018=)
c.2986G= (p.Val996=)
c.1552G= (p.Val518=)
c.904G= (p.Val302=)
c.691G= (p.Val231=)
c.2965G= (p.Val989=)
c.3100G= (p.Val1034=)
c.3106G= (p.Val1036=)
c.3022G= (p.Val1008=)
c.3007G= (p.Val1003=)
c.2950G= (p.Val984=)
c.2884G= (p.Val962=)
c.2245G= (p.Val749=)
c.2863G= (p.Val955=)
9g.137813471G>TCA375794306EHMT1c.3121G>T (p.Val1041Phe)
c.3028G>T (p.Val1010Phe)
c.3161G>T (n.3161G>T)
c.1015G>T (p.Val339Phe)
c.1978G>T (p.Val660Phe)
n.647G>T
c.3112G>T (p.Val1038Phe)
c.3103G>T (p.Val1035Phe)
c.3130G>T (p.Val1044Phe)
c.3127G>T (p.Val1043Phe)
c.3109G>T (p.Val1037Phe)
c.3052G>T (p.Val1018Phe)
c.2986G>T (p.Val996Phe)
c.1552G>T (p.Val518Phe)
c.904G>T (p.Val302Phe)
c.691G>T (p.Val231Phe)
c.2965G>T (p.Val989Phe)
c.3100G>T (p.Val1034Phe)
c.3106G>T (p.Val1036Phe)
c.3022G>T (p.Val1008Phe)
c.3007G>T (p.Val1003Phe)
c.2950G>T (p.Val984Phe)
c.2884G>T (p.Val962Phe)
c.2245G>T (p.Val749Phe)
c.2863G>T (p.Val955Phe)
9g.137813471_137813473delinsGTCCA1884685906EHMT1c.3121_3123delinsGTC (p.Val1041=)
c.3028_3030delinsGTC (p.Val1010=)
c.3161_3163delinsGTC (n.3161_3163delinsGTC)
c.1015_1017delinsGTC (p.Val339=)
c.1978_1980delinsGTC (p.Val660=)
n.647_649delinsGTC
c.3112_3114delinsGTC (p.Val1038=)
c.3103_3105delinsGTC (p.Val1035=)
c.3130_3132delinsGTC (p.Val1044=)
c.3127_3129delinsGTC (p.Val1043=)
c.3109_3111delinsGTC (p.Val1037=)
c.3052_3054delinsGTC (p.Val1018=)
c.2986_2988delinsGTC (p.Val996=)
c.1552_1554delinsGTC (p.Val518=)
c.904_906delinsGTC (p.Val302=)
c.691_693delinsGTC (p.Val231=)
c.2965_2967delinsGTC (p.Val989=)
c.3100_3102delinsGTC (p.Val1034=)
c.3106_3108delinsGTC (p.Val1036=)
c.3022_3024delinsGTC (p.Val1008=)
c.3007_3009delinsGTC (p.Val1003=)
c.2950_2952delinsGTC (p.Val984=)
c.2884_2886delinsGTC (p.Val962=)
c.2245_2247delinsGTC (p.Val749=)
c.2863_2865delinsGTC (p.Val955=)
9g.137813472T>ACA375794309EHMT1c.3122T>A (p.Val1041Asp)
c.3029T>A (p.Val1010Asp)
c.3162T>A (n.3162T>A)
c.1016T>A (p.Val339Asp)
c.1979T>A (p.Val660Asp)
n.648T>A
c.3113T>A (p.Val1038Asp)
c.3104T>A (p.Val1035Asp)
c.3131T>A (p.Val1044Asp)
c.3128T>A (p.Val1043Asp)
c.3110T>A (p.Val1037Asp)
c.3053T>A (p.Val1018Asp)
c.2987T>A (p.Val996Asp)
c.1553T>A (p.Val518Asp)
c.905T>A (p.Val302Asp)
c.692T>A (p.Val231Asp)
c.2966T>A (p.Val989Asp)
c.3101T>A (p.Val1034Asp)
c.3107T>A (p.Val1036Asp)
c.3023T>A (p.Val1008Asp)
c.3008T>A (p.Val1003Asp)
c.2951T>A (p.Val984Asp)
c.2885T>A (p.Val962Asp)
c.2246T>A (p.Val749Asp)
c.2864T>A (p.Val955Asp)
9g.137813472T>CCA375794311EHMT1c.3122T>C (p.Val1041Ala)
c.3029T>C (p.Val1010Ala)
c.3162T>C (n.3162T>C)
c.1016T>C (p.Val339Ala)
c.1979T>C (p.Val660Ala)
n.648T>C
c.3113T>C (p.Val1038Ala)
c.3104T>C (p.Val1035Ala)
c.3131T>C (p.Val1044Ala)
c.3128T>C (p.Val1043Ala)
c.3110T>C (p.Val1037Ala)
c.3053T>C (p.Val1018Ala)
c.2987T>C (p.Val996Ala)
c.1553T>C (p.Val518Ala)
c.905T>C (p.Val302Ala)
c.692T>C (p.Val231Ala)
c.2966T>C (p.Val989Ala)
c.3101T>C (p.Val1034Ala)
c.3107T>C (p.Val1036Ala)
c.3023T>C (p.Val1008Ala)
c.3008T>C (p.Val1003Ala)
c.2951T>C (p.Val984Ala)
c.2885T>C (p.Val962Ala)
c.2246T>C (p.Val749Ala)
c.2864T>C (p.Val955Ala)
9g.137813472T>GCA375794316EHMT1c.3122T>G (p.Val1041Gly)
c.3029T>G (p.Val1010Gly)
c.3162T>G (n.3162T>G)
c.1016T>G (p.Val339Gly)
c.1979T>G (p.Val660Gly)
n.648T>G
c.3113T>G (p.Val1038Gly)
c.3104T>G (p.Val1035Gly)
c.3131T>G (p.Val1044Gly)
c.3128T>G (p.Val1043Gly)
c.3110T>G (p.Val1037Gly)
c.3053T>G (p.Val1018Gly)
c.2987T>G (p.Val996Gly)
c.1553T>G (p.Val518Gly)
c.905T>G (p.Val302Gly)
c.692T>G (p.Val231Gly)
c.2966T>G (p.Val989Gly)
c.3101T>G (p.Val1034Gly)
c.3107T>G (p.Val1036Gly)
c.3023T>G (p.Val1008Gly)
c.3008T>G (p.Val1003Gly)
c.2951T>G (p.Val984Gly)
c.2885T>G (p.Val962Gly)
c.2246T>G (p.Val749Gly)
c.2864T>G (p.Val955Gly)
9g.137813476_137813477delCA658657948EHMT1c.3126_3127del (p.Gln1043GlufsTer?)
c.3033_3034del (p.Gln1012GlufsTer?)
c.3166_3167del (n.3166_3167del)
c.1020_1021del (p.Gln341GlufsTer?)
c.1983_1984del (p.Gln662GlufsTer?)
n.652_653del
c.3117_3118del (p.Gln1040GlufsTer?)
c.3108_3109del (p.Gln1037GlufsTer?)
c.3135_3136del (p.Gln1046GlufsTer?)
c.3132_3133del (p.Gln1045GlufsTer?)
c.3114_3115del (p.Gln1039GlufsTer?)
c.3057_3058del (p.Gln1020GlufsTer?)
c.2991_2992del (p.Gln998GlufsTer?)
c.1557_1558del (p.Gln520GlufsTer?)
c.909_910del (p.Gln304GlufsTer?)
c.696_697del (p.Gln233GlufsTer?)
c.2970_2971del (p.Gln991GlufsTer?)
c.3105_3106del (p.Gln1036GlufsTer?)
c.3111_3112del (p.Gln1038GlufsTer?)
c.3027_3028del (p.Gln1010GlufsTer?)
c.3012_3013del (p.Gln1005GlufsTer?)
c.2955_2956del (p.Gln986GlufsTer?)
c.2889_2890del (p.Gln964GlufsTer?)
c.2250_2251del (p.Gln751GlufsTer?)
c.2868_2869del (p.Gln957GlufsTer?)
 ClinVar dbSNP
9g.137813473C>ACA207991EHMT1c.3123C>A (p.Val1041=)
c.3030C>A (p.Val1010=)
c.3163C>A (n.3163C>A)
c.1017C>A (p.Val339=)
c.1980C>A (p.Val660=)
n.649C>A
c.3114C>A (p.Val1038=)
c.3105C>A (p.Val1035=)
c.3132C>A (p.Val1044=)
c.3129C>A (p.Val1043=)
c.3111C>A (p.Val1037=)
c.3054C>A (p.Val1018=)
c.2988C>A (p.Val996=)
c.1554C>A (p.Val518=)
c.906C>A (p.Val302=)
c.693C>A (p.Val231=)
c.2967C>A (p.Val989=)
c.3102C>A (p.Val1034=)
c.3108C>A (p.Val1036=)
c.3024C>A (p.Val1008=)
c.3009C>A (p.Val1003=)
c.2952C>A (p.Val984=)
c.2886C>A (p.Val962=)
c.2247C>A (p.Val749=)
c.2865C>A (p.Val955=)
 ClinVar dbSNP
9g.137813473C=CA1884685907EHMT1c.3123C= (p.Val1041=)
c.3030C= (p.Val1010=)
c.3163C= (n.3163C=)
c.1017C= (p.Val339=)
c.1980C= (p.Val660=)
n.649C=
c.3114C= (p.Val1038=)
c.3105C= (p.Val1035=)
c.3132C= (p.Val1044=)
c.3129C= (p.Val1043=)
c.3111C= (p.Val1037=)
c.3054C= (p.Val1018=)
c.2988C= (p.Val996=)
c.1554C= (p.Val518=)
c.906C= (p.Val302=)
c.693C= (p.Val231=)
c.2967C= (p.Val989=)
c.3102C= (p.Val1034=)
c.3108C= (p.Val1036=)
c.3024C= (p.Val1008=)
c.3009C= (p.Val1003=)
c.2952C= (p.Val984=)
c.2886C= (p.Val962=)
c.2247C= (p.Val749=)
c.2865C= (p.Val955=)
9g.137813473C>GCA5375172EHMT1c.3123C>G (p.Val1041=)
c.3030C>G (p.Val1010=)
c.3163C>G (n.3163C>G)
c.1017C>G (p.Val339=)
c.1980C>G (p.Val660=)
n.649C>G
c.3114C>G (p.Val1038=)
c.3105C>G (p.Val1035=)
c.3132C>G (p.Val1044=)
c.3129C>G (p.Val1043=)
c.3111C>G (p.Val1037=)
c.3054C>G (p.Val1018=)
c.2988C>G (p.Val996=)
c.1554C>G (p.Val518=)
c.906C>G (p.Val302=)
c.693C>G (p.Val231=)
c.2967C>G (p.Val989=)
c.3102C>G (p.Val1034=)
c.3108C>G (p.Val1036=)
c.3024C>G (p.Val1008=)
c.3009C>G (p.Val1003=)
c.2952C>G (p.Val984=)
c.2886C>G (p.Val962=)
c.2247C>G (p.Val749=)
c.2865C>G (p.Val955=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813473C>TCA5375171EHMT1c.3123C>T (p.Val1041=)
c.3030C>T (p.Val1010=)
c.3163C>T (n.3163C>T)
c.1017C>T (p.Val339=)
c.1980C>T (p.Val660=)
n.649C>T
c.3114C>T (p.Val1038=)
c.3105C>T (p.Val1035=)
c.3132C>T (p.Val1044=)
c.3129C>T (p.Val1043=)
c.3111C>T (p.Val1037=)
c.3054C>T (p.Val1018=)
c.2988C>T (p.Val996=)
c.1554C>T (p.Val518=)
c.906C>T (p.Val302=)
c.693C>T (p.Val231=)
c.2967C>T (p.Val989=)
c.3102C>T (p.Val1034=)
c.3108C>T (p.Val1036=)
c.3024C>T (p.Val1008=)
c.3009C>T (p.Val1003=)
c.2952C>T (p.Val984=)
c.2886C>T (p.Val962=)
c.2247C>T (p.Val749=)
c.2865C>T (p.Val955=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813474T>ACA375794325EHMT1c.3124T>A (p.Ser1042Thr)
c.3031T>A (p.Ser1011Thr)
c.3164T>A (n.3164T>A)
c.1018T>A (p.Ser340Thr)
c.1981T>A (p.Ser661Thr)
n.650T>A
c.3115T>A (p.Ser1039Thr)
c.3106T>A (p.Ser1036Thr)
c.3133T>A (p.Ser1045Thr)
c.3130T>A (p.Ser1044Thr)
c.3112T>A (p.Ser1038Thr)
c.3055T>A (p.Ser1019Thr)
c.2989T>A (p.Ser997Thr)
c.1555T>A (p.Ser519Thr)
c.907T>A (p.Ser303Thr)
c.694T>A (p.Ser232Thr)
c.2968T>A (p.Ser990Thr)
c.3103T>A (p.Ser1035Thr)
c.3109T>A (p.Ser1037Thr)
c.3025T>A (p.Ser1009Thr)
c.3010T>A (p.Ser1004Thr)
c.2953T>A (p.Ser985Thr)
c.2887T>A (p.Ser963Thr)
c.2248T>A (p.Ser750Thr)
c.2866T>A (p.Ser956Thr)
9g.137813474T>CCA375794330EHMT1c.3124T>C (p.Ser1042Pro)
c.3031T>C (p.Ser1011Pro)
c.3164T>C (n.3164T>C)
c.1018T>C (p.Ser340Pro)
c.1981T>C (p.Ser661Pro)
n.650T>C
c.3115T>C (p.Ser1039Pro)
c.3106T>C (p.Ser1036Pro)
c.3133T>C (p.Ser1045Pro)
c.3130T>C (p.Ser1044Pro)
c.3112T>C (p.Ser1038Pro)
c.3055T>C (p.Ser1019Pro)
c.2989T>C (p.Ser997Pro)
c.1555T>C (p.Ser519Pro)
c.907T>C (p.Ser303Pro)
c.694T>C (p.Ser232Pro)
c.2968T>C (p.Ser990Pro)
c.3103T>C (p.Ser1035Pro)
c.3109T>C (p.Ser1037Pro)
c.3025T>C (p.Ser1009Pro)
c.3010T>C (p.Ser1004Pro)
c.2953T>C (p.Ser985Pro)
c.2887T>C (p.Ser963Pro)
c.2248T>C (p.Ser750Pro)
c.2866T>C (p.Ser956Pro)
9g.137813474T>GCA375794328EHMT1c.3124T>G (p.Ser1042Ala)
c.3031T>G (p.Ser1011Ala)
c.3164T>G (n.3164T>G)
c.1018T>G (p.Ser340Ala)
c.1981T>G (p.Ser661Ala)
n.650T>G
c.3115T>G (p.Ser1039Ala)
c.3106T>G (p.Ser1036Ala)
c.3133T>G (p.Ser1045Ala)
c.3130T>G (p.Ser1044Ala)
c.3112T>G (p.Ser1038Ala)
c.3055T>G (p.Ser1019Ala)
c.2989T>G (p.Ser997Ala)
c.1555T>G (p.Ser519Ala)
c.907T>G (p.Ser303Ala)
c.694T>G (p.Ser232Ala)
c.2968T>G (p.Ser990Ala)
c.3103T>G (p.Ser1035Ala)
c.3109T>G (p.Ser1037Ala)
c.3025T>G (p.Ser1009Ala)
c.3010T>G (p.Ser1004Ala)
c.2953T>G (p.Ser985Ala)
c.2887T>G (p.Ser963Ala)
c.2248T>G (p.Ser750Ala)
c.2866T>G (p.Ser956Ala)
9g.137813475C>ACA375794331EHMT1c.3125C>A (p.Ser1042Tyr)
c.3032C>A (p.Ser1011Tyr)
c.3165C>A (n.3165C>A)
c.1019C>A (p.Ser340Tyr)
c.1982C>A (p.Ser661Tyr)
n.651C>A
c.3116C>A (p.Ser1039Tyr)
c.3107C>A (p.Ser1036Tyr)
c.3134C>A (p.Ser1045Tyr)
c.3131C>A (p.Ser1044Tyr)
c.3113C>A (p.Ser1038Tyr)
c.3056C>A (p.Ser1019Tyr)
c.2990C>A (p.Ser997Tyr)
c.1556C>A (p.Ser519Tyr)
c.908C>A (p.Ser303Tyr)
c.695C>A (p.Ser232Tyr)
c.2969C>A (p.Ser990Tyr)
c.3104C>A (p.Ser1035Tyr)
c.3110C>A (p.Ser1037Tyr)
c.3026C>A (p.Ser1009Tyr)
c.3011C>A (p.Ser1004Tyr)
c.2954C>A (p.Ser985Tyr)
c.2888C>A (p.Ser963Tyr)
c.2249C>A (p.Ser750Tyr)
c.2867C>A (p.Ser956Tyr)
9g.137813475C=CA1884685908EHMT1c.3125C= (p.Ser1042=)
c.3032C= (p.Ser1011=)
c.3165C= (n.3165C=)
c.1019C= (p.Ser340=)
c.1982C= (p.Ser661=)
n.651C=
c.3116C= (p.Ser1039=)
c.3107C= (p.Ser1036=)
c.3134C= (p.Ser1045=)
c.3131C= (p.Ser1044=)
c.3113C= (p.Ser1038=)
c.3056C= (p.Ser1019=)
c.2990C= (p.Ser997=)
c.1556C= (p.Ser519=)
c.908C= (p.Ser303=)
c.695C= (p.Ser232=)
c.2969C= (p.Ser990=)
c.3104C= (p.Ser1035=)
c.3110C= (p.Ser1037=)
c.3026C= (p.Ser1009=)
c.3011C= (p.Ser1004=)
c.2954C= (p.Ser985=)
c.2888C= (p.Ser963=)
c.2249C= (p.Ser750=)
c.2867C= (p.Ser956=)
9g.137813475C>GCA375794342EHMT1c.3125C>G (p.Ser1042Cys)
c.3032C>G (p.Ser1011Cys)
c.3165C>G (n.3165C>G)
c.1019C>G (p.Ser340Cys)
c.1982C>G (p.Ser661Cys)
n.651C>G
c.3116C>G (p.Ser1039Cys)
c.3107C>G (p.Ser1036Cys)
c.3134C>G (p.Ser1045Cys)
c.3131C>G (p.Ser1044Cys)
c.3113C>G (p.Ser1038Cys)
c.3056C>G (p.Ser1019Cys)
c.2990C>G (p.Ser997Cys)
c.1556C>G (p.Ser519Cys)
c.908C>G (p.Ser303Cys)
c.695C>G (p.Ser232Cys)
c.2969C>G (p.Ser990Cys)
c.3104C>G (p.Ser1035Cys)
c.3110C>G (p.Ser1037Cys)
c.3026C>G (p.Ser1009Cys)
c.3011C>G (p.Ser1004Cys)
c.2954C>G (p.Ser985Cys)
c.2888C>G (p.Ser963Cys)
c.2249C>G (p.Ser750Cys)
c.2867C>G (p.Ser956Cys)
 dbSNP gnomAD v2
9g.137813475C>TCA375794340EHMT1c.3125C>T (p.Ser1042Phe)
c.3032C>T (p.Ser1011Phe)
c.3165C>T (n.3165C>T)
c.1019C>T (p.Ser340Phe)
c.1982C>T (p.Ser661Phe)
n.651C>T
c.3116C>T (p.Ser1039Phe)
c.3107C>T (p.Ser1036Phe)
c.3134C>T (p.Ser1045Phe)
c.3131C>T (p.Ser1044Phe)
c.3113C>T (p.Ser1038Phe)
c.3056C>T (p.Ser1019Phe)
c.2990C>T (p.Ser997Phe)
c.1556C>T (p.Ser519Phe)
c.908C>T (p.Ser303Phe)
c.695C>T (p.Ser232Phe)
c.2969C>T (p.Ser990Phe)
c.3104C>T (p.Ser1035Phe)
c.3110C>T (p.Ser1037Phe)
c.3026C>T (p.Ser1009Phe)
c.3011C>T (p.Ser1004Phe)
c.2954C>T (p.Ser985Phe)
c.2888C>T (p.Ser963Phe)
c.2249C>T (p.Ser750Phe)
c.2867C>T (p.Ser956Phe)
9g.137813476T>ACA468161438EHMT1c.3126T>A (p.Ser1042=)
c.3033T>A (p.Ser1011=)
c.3166T>A (n.3166T>A)
c.1020T>A (p.Ser340=)
c.1983T>A (p.Ser661=)
n.652T>A
c.3117T>A (p.Ser1039=)
c.3108T>A (p.Ser1036=)
c.3135T>A (p.Ser1045=)
c.3132T>A (p.Ser1044=)
c.3114T>A (p.Ser1038=)
c.3057T>A (p.Ser1019=)
c.2991T>A (p.Ser997=)
c.1557T>A (p.Ser519=)
c.909T>A (p.Ser303=)
c.696T>A (p.Ser232=)
c.2970T>A (p.Ser990=)
c.3105T>A (p.Ser1035=)
c.3111T>A (p.Ser1037=)
c.3027T>A (p.Ser1009=)
c.3012T>A (p.Ser1004=)
c.2955T>A (p.Ser985=)
c.2889T>A (p.Ser963=)
c.2250T>A (p.Ser750=)
c.2868T>A (p.Ser956=)
9g.137813476T>CCA468161439EHMT1c.3126T>C (p.Ser1042=)
c.3033T>C (p.Ser1011=)
c.3166T>C (n.3166T>C)
c.1020T>C (p.Ser340=)
c.1983T>C (p.Ser661=)
n.652T>C
c.3117T>C (p.Ser1039=)
c.3108T>C (p.Ser1036=)
c.3135T>C (p.Ser1045=)
c.3132T>C (p.Ser1044=)
c.3114T>C (p.Ser1038=)
c.3057T>C (p.Ser1019=)
c.2991T>C (p.Ser997=)
c.1557T>C (p.Ser519=)
c.909T>C (p.Ser303=)
c.696T>C (p.Ser232=)
c.2970T>C (p.Ser990=)
c.3105T>C (p.Ser1035=)
c.3111T>C (p.Ser1037=)
c.3027T>C (p.Ser1009=)
c.3012T>C (p.Ser1004=)
c.2955T>C (p.Ser985=)
c.2889T>C (p.Ser963=)
c.2250T>C (p.Ser750=)
c.2868T>C (p.Ser956=)
9g.137813476T>GCA468161440EHMT1c.3126T>G (p.Ser1042=)
c.3033T>G (p.Ser1011=)
c.3166T>G (n.3166T>G)
c.1020T>G (p.Ser340=)
c.1983T>G (p.Ser661=)
n.652T>G
c.3117T>G (p.Ser1039=)
c.3108T>G (p.Ser1036=)
c.3135T>G (p.Ser1045=)
c.3132T>G (p.Ser1044=)
c.3114T>G (p.Ser1038=)
c.3057T>G (p.Ser1019=)
c.2991T>G (p.Ser997=)
c.1557T>G (p.Ser519=)
c.909T>G (p.Ser303=)
c.696T>G (p.Ser232=)
c.2970T>G (p.Ser990=)
c.3105T>G (p.Ser1035=)
c.3111T>G (p.Ser1037=)
c.3027T>G (p.Ser1009=)
c.3012T>G (p.Ser1004=)
c.2955T>G (p.Ser985=)
c.2889T>G (p.Ser963=)
c.2250T>G (p.Ser750=)
c.2868T>G (p.Ser956=)
9g.137813477C>ACA375794343EHMT1c.3127C>A (p.Gln1043Lys)
c.3034C>A (p.Gln1012Lys)
c.3167C>A (n.3167C>A)
c.1021C>A (p.Gln341Lys)
c.1984C>A (p.Gln662Lys)
n.653C>A
c.3118C>A (p.Gln1040Lys)
c.3109C>A (p.Gln1037Lys)
c.3136C>A (p.Gln1046Lys)
c.3133C>A (p.Gln1045Lys)
c.3115C>A (p.Gln1039Lys)
c.3058C>A (p.Gln1020Lys)
c.2992C>A (p.Gln998Lys)
c.1558C>A (p.Gln520Lys)
c.910C>A (p.Gln304Lys)
c.697C>A (p.Gln233Lys)
c.2971C>A (p.Gln991Lys)
c.3106C>A (p.Gln1036Lys)
c.3112C>A (p.Gln1038Lys)
c.3028C>A (p.Gln1010Lys)
c.3013C>A (p.Gln1005Lys)
c.2956C>A (p.Gln986Lys)
c.2890C>A (p.Gln964Lys)
c.2251C>A (p.Gln751Lys)
c.2869C>A (p.Gln957Lys)
9g.137813477C=CA1884685909EHMT1c.3127C= (p.Gln1043=)
c.3034C= (p.Gln1012=)
c.3167C= (n.3167C=)
c.1021C= (p.Gln341=)
c.1984C= (p.Gln662=)
n.653C=
c.3118C= (p.Gln1040=)
c.3109C= (p.Gln1037=)
c.3136C= (p.Gln1046=)
c.3133C= (p.Gln1045=)
c.3115C= (p.Gln1039=)
c.3058C= (p.Gln1020=)
c.2992C= (p.Gln998=)
c.1558C= (p.Gln520=)
c.910C= (p.Gln304=)
c.697C= (p.Gln233=)
c.2971C= (p.Gln991=)
c.3106C= (p.Gln1036=)
c.3112C= (p.Gln1038=)
c.3028C= (p.Gln1010=)
c.3013C= (p.Gln1005=)
c.2956C= (p.Gln986=)
c.2890C= (p.Gln964=)
c.2251C= (p.Gln751=)
c.2869C= (p.Gln957=)
9g.137813477C>GCA375794347EHMT1c.3127C>G (p.Gln1043Glu)
c.3034C>G (p.Gln1012Glu)
c.3167C>G (n.3167C>G)
c.1021C>G (p.Gln341Glu)
c.1984C>G (p.Gln662Glu)
n.653C>G
c.3118C>G (p.Gln1040Glu)
c.3109C>G (p.Gln1037Glu)
c.3136C>G (p.Gln1046Glu)
c.3133C>G (p.Gln1045Glu)
c.3115C>G (p.Gln1039Glu)
c.3058C>G (p.Gln1020Glu)
c.2992C>G (p.Gln998Glu)
c.1558C>G (p.Gln520Glu)
c.910C>G (p.Gln304Glu)
c.697C>G (p.Gln233Glu)
c.2971C>G (p.Gln991Glu)
c.3106C>G (p.Gln1036Glu)
c.3112C>G (p.Gln1038Glu)
c.3028C>G (p.Gln1010Glu)
c.3013C>G (p.Gln1005Glu)
c.2956C>G (p.Gln986Glu)
c.2890C>G (p.Gln964Glu)
c.2251C>G (p.Gln751Glu)
c.2869C>G (p.Gln957Glu)
9g.137813477C>TCA16618820EHMT1c.3127C>T (p.Gln1043Ter)
c.3034C>T (p.Gln1012Ter)
c.3167C>T (n.3167C>T)
c.1021C>T (p.Gln341Ter)
c.1984C>T (p.Gln662Ter)
n.653C>T
c.3118C>T (p.Gln1040Ter)
c.3109C>T (p.Gln1037Ter)
c.3136C>T (p.Gln1046Ter)
c.3133C>T (p.Gln1045Ter)
c.3115C>T (p.Gln1039Ter)
c.3058C>T (p.Gln1020Ter)
c.2992C>T (p.Gln998Ter)
c.1558C>T (p.Gln520Ter)
c.910C>T (p.Gln304Ter)
c.697C>T (p.Gln233Ter)
c.2971C>T (p.Gln991Ter)
c.3106C>T (p.Gln1036Ter)
c.3112C>T (p.Gln1038Ter)
c.3028C>T (p.Gln1010Ter)
c.3013C>T (p.Gln1005Ter)
c.2956C>T (p.Gln986Ter)
c.2890C>T (p.Gln964Ter)
c.2251C>T (p.Gln751Ter)
c.2869C>T (p.Gln957Ter)
 ClinVar dbSNP
9g.137813478A>CCA375794358EHMT1c.3128A>C (p.Gln1043Pro)
c.3035A>C (p.Gln1012Pro)
c.3168A>C (n.3168A>C)
c.1022A>C (p.Gln341Pro)
c.1985A>C (p.Gln662Pro)
n.654A>C
c.3119A>C (p.Gln1040Pro)
c.3110A>C (p.Gln1037Pro)
c.3137A>C (p.Gln1046Pro)
c.3134A>C (p.Gln1045Pro)
c.3116A>C (p.Gln1039Pro)
c.3059A>C (p.Gln1020Pro)
c.2993A>C (p.Gln998Pro)
c.1559A>C (p.Gln520Pro)
c.911A>C (p.Gln304Pro)
c.698A>C (p.Gln233Pro)
c.2972A>C (p.Gln991Pro)
c.3107A>C (p.Gln1036Pro)
c.3113A>C (p.Gln1038Pro)
c.3029A>C (p.Gln1010Pro)
c.3014A>C (p.Gln1005Pro)
c.2957A>C (p.Gln986Pro)
c.2891A>C (p.Gln964Pro)
c.2252A>C (p.Gln751Pro)
c.2870A>C (p.Gln957Pro)
9g.137813478A>GCA375794361EHMT1c.3128A>G (p.Gln1043Arg)
c.3035A>G (p.Gln1012Arg)
c.3168A>G (n.3168A>G)
c.1022A>G (p.Gln341Arg)
c.1985A>G (p.Gln662Arg)
n.654A>G
c.3119A>G (p.Gln1040Arg)
c.3110A>G (p.Gln1037Arg)
c.3137A>G (p.Gln1046Arg)
c.3134A>G (p.Gln1045Arg)
c.3116A>G (p.Gln1039Arg)
c.3059A>G (p.Gln1020Arg)
c.2993A>G (p.Gln998Arg)
c.1559A>G (p.Gln520Arg)
c.911A>G (p.Gln304Arg)
c.698A>G (p.Gln233Arg)
c.2972A>G (p.Gln991Arg)
c.3107A>G (p.Gln1036Arg)
c.3113A>G (p.Gln1038Arg)
c.3029A>G (p.Gln1010Arg)
c.3014A>G (p.Gln1005Arg)
c.2957A>G (p.Gln986Arg)
c.2891A>G (p.Gln964Arg)
c.2252A>G (p.Gln751Arg)
c.2870A>G (p.Gln957Arg)
 gnomAD v4
9g.137813478A>TCA375794362EHMT1c.3128A>T (p.Gln1043Leu)
c.3035A>T (p.Gln1012Leu)
c.3168A>T (n.3168A>T)
c.1022A>T (p.Gln341Leu)
c.1985A>T (p.Gln662Leu)
n.654A>T
c.3119A>T (p.Gln1040Leu)
c.3110A>T (p.Gln1037Leu)
c.3137A>T (p.Gln1046Leu)
c.3134A>T (p.Gln1045Leu)
c.3116A>T (p.Gln1039Leu)
c.3059A>T (p.Gln1020Leu)
c.2993A>T (p.Gln998Leu)
c.1559A>T (p.Gln520Leu)
c.911A>T (p.Gln304Leu)
c.698A>T (p.Gln233Leu)
c.2972A>T (p.Gln991Leu)
c.3107A>T (p.Gln1036Leu)
c.3113A>T (p.Gln1038Leu)
c.3029A>T (p.Gln1010Leu)
c.3014A>T (p.Gln1005Leu)
c.2957A>T (p.Gln986Leu)
c.2891A>T (p.Gln964Leu)
c.2252A>T (p.Gln751Leu)
c.2870A>T (p.Gln957Leu)
9g.137813479G>ACA468161441EHMT1c.3129G>A (p.Gln1043=)
c.3036G>A (p.Gln1012=)
c.3169G>A (n.3169G>A)
c.1023G>A (p.Gln341=)
c.1986G>A (p.Gln662=)
n.655G>A
c.3120G>A (p.Gln1040=)
c.3111G>A (p.Gln1037=)
c.3138G>A (p.Gln1046=)
c.3135G>A (p.Gln1045=)
c.3117G>A (p.Gln1039=)
c.3060G>A (p.Gln1020=)
c.2994G>A (p.Gln998=)
c.1560G>A (p.Gln520=)
c.912G>A (p.Gln304=)
c.699G>A (p.Gln233=)
c.2973G>A (p.Gln991=)
c.3108G>A (p.Gln1036=)
c.3114G>A (p.Gln1038=)
c.3030G>A (p.Gln1010=)
c.3015G>A (p.Gln1005=)
c.2958G>A (p.Gln986=)
c.2892G>A (p.Gln964=)
c.2253G>A (p.Gln751=)
c.2871G>A (p.Gln957=)
9g.137813479G>CCA375794367EHMT1c.3129G>C (p.Gln1043His)
c.3036G>C (p.Gln1012His)
c.3169G>C (n.3169G>C)
c.1023G>C (p.Gln341His)
c.1986G>C (p.Gln662His)
n.655G>C
c.3120G>C (p.Gln1040His)
c.3111G>C (p.Gln1037His)
c.3138G>C (p.Gln1046His)
c.3135G>C (p.Gln1045His)
c.3117G>C (p.Gln1039His)
c.3060G>C (p.Gln1020His)
c.2994G>C (p.Gln998His)
c.1560G>C (p.Gln520His)
c.912G>C (p.Gln304His)
c.699G>C (p.Gln233His)
c.2973G>C (p.Gln991His)
c.3108G>C (p.Gln1036His)
c.3114G>C (p.Gln1038His)
c.3030G>C (p.Gln1010His)
c.3015G>C (p.Gln1005His)
c.2958G>C (p.Gln986His)
c.2892G>C (p.Gln964His)
c.2253G>C (p.Gln751His)
c.2871G>C (p.Gln957His)
9g.137813479G>TCA375794370EHMT1c.3129G>T (p.Gln1043His)
c.3036G>T (p.Gln1012His)
c.3169G>T (n.3169G>T)
c.1023G>T (p.Gln341His)
c.1986G>T (p.Gln662His)
n.655G>T
c.3120G>T (p.Gln1040His)
c.3111G>T (p.Gln1037His)
c.3138G>T (p.Gln1046His)
c.3135G>T (p.Gln1045His)
c.3117G>T (p.Gln1039His)
c.3060G>T (p.Gln1020His)
c.2994G>T (p.Gln998His)
c.1560G>T (p.Gln520His)
c.912G>T (p.Gln304His)
c.699G>T (p.Gln233His)
c.2973G>T (p.Gln991His)
c.3108G>T (p.Gln1036His)
c.3114G>T (p.Gln1038His)
c.3030G>T (p.Gln1010His)
c.3015G>T (p.Gln1005His)
c.2958G>T (p.Gln986His)
c.2892G>T (p.Gln964His)
c.2253G>T (p.Gln751His)
c.2871G>T (p.Gln957His)
9g.137813480A>CCA375794372EHMT1c.3130A>C (p.Asn1044His)
c.3037A>C (p.Asn1013His)
c.3170A>C (n.3170A>C)
c.1024A>C (p.Asn342His)
c.1987A>C (p.Asn663His)
n.656A>C
c.3121A>C (p.Asn1041His)
c.3112A>C (p.Asn1038His)
c.3139A>C (p.Asn1047His)
c.3136A>C (p.Asn1046His)
c.3118A>C (p.Asn1040His)
c.3061A>C (p.Asn1021His)
c.2995A>C (p.Asn999His)
c.1561A>C (p.Asn521His)
c.913A>C (p.Asn305His)
c.700A>C (p.Asn234His)
c.2974A>C (p.Asn992His)
c.3109A>C (p.Asn1037His)
c.3115A>C (p.Asn1039His)
c.3031A>C (p.Asn1011His)
c.3016A>C (p.Asn1006His)
c.2959A>C (p.Asn987His)
c.2893A>C (p.Asn965His)
c.2254A>C (p.Asn752His)
c.2872A>C (p.Asn958His)
9g.137813480A>GCA375794374EHMT1c.3130A>G (p.Asn1044Asp)
c.3037A>G (p.Asn1013Asp)
c.3170A>G (n.3170A>G)
c.1024A>G (p.Asn342Asp)
c.1987A>G (p.Asn663Asp)
n.656A>G
c.3121A>G (p.Asn1041Asp)
c.3112A>G (p.Asn1038Asp)
c.3139A>G (p.Asn1047Asp)
c.3136A>G (p.Asn1046Asp)
c.3118A>G (p.Asn1040Asp)
c.3061A>G (p.Asn1021Asp)
c.2995A>G (p.Asn999Asp)
c.1561A>G (p.Asn521Asp)
c.913A>G (p.Asn305Asp)
c.700A>G (p.Asn234Asp)
c.2974A>G (p.Asn992Asp)
c.3109A>G (p.Asn1037Asp)
c.3115A>G (p.Asn1039Asp)
c.3031A>G (p.Asn1011Asp)
c.3016A>G (p.Asn1006Asp)
c.2959A>G (p.Asn987Asp)
c.2893A>G (p.Asn965Asp)
c.2254A>G (p.Asn752Asp)
c.2872A>G (p.Asn958Asp)
9g.137813480A>TCA375794377EHMT1c.3130A>T (p.Asn1044Tyr)
c.3037A>T (p.Asn1013Tyr)
c.3170A>T (n.3170A>T)
c.1024A>T (p.Asn342Tyr)
c.1987A>T (p.Asn663Tyr)
n.656A>T
c.3121A>T (p.Asn1041Tyr)
c.3112A>T (p.Asn1038Tyr)
c.3139A>T (p.Asn1047Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3118A>T (p.Asn1040Tyr)
c.3061A>T (p.Asn1021Tyr)
c.2995A>T (p.Asn999Tyr)
c.1561A>T (p.Asn521Tyr)
c.913A>T (p.Asn305Tyr)
c.700A>T (p.Asn234Tyr)
c.2974A>T (p.Asn992Tyr)
c.3109A>T (p.Asn1037Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3031A>T (p.Asn1011Tyr)
c.3016A>T (p.Asn1006Tyr)
c.2959A>T (p.Asn987Tyr)
c.2893A>T (p.Asn965Tyr)
c.2254A>T (p.Asn752Tyr)
c.2872A>T (p.Asn958Tyr)
9g.137813481A>CCA375794380EHMT1c.3131A>C (p.Asn1044Thr)
c.3038A>C (p.Asn1013Thr)
c.3171A>C (n.3171A>C)
c.1025A>C (p.Asn342Thr)
c.1988A>C (p.Asn663Thr)
n.657A>C
c.3122A>C (p.Asn1041Thr)
c.3113A>C (p.Asn1038Thr)
c.3140A>C (p.Asn1047Thr)
c.3137A>C (p.Asn1046Thr)
c.3119A>C (p.Asn1040Thr)
c.3062A>C (p.Asn1021Thr)
c.2996A>C (p.Asn999Thr)
c.1562A>C (p.Asn521Thr)
c.914A>C (p.Asn305Thr)
c.701A>C (p.Asn234Thr)
c.2975A>C (p.Asn992Thr)
c.3110A>C (p.Asn1037Thr)
c.3116A>C (p.Asn1039Thr)
c.3032A>C (p.Asn1011Thr)
c.3017A>C (p.Asn1006Thr)
c.2960A>C (p.Asn987Thr)
c.2894A>C (p.Asn965Thr)
c.2255A>C (p.Asn752Thr)
c.2873A>C (p.Asn958Thr)
9g.137813481A>GCA375794382EHMT1c.3131A>G (p.Asn1044Ser)
c.3038A>G (p.Asn1013Ser)
c.3171A>G (n.3171A>G)
c.1025A>G (p.Asn342Ser)
c.1988A>G (p.Asn663Ser)
n.657A>G
c.3122A>G (p.Asn1041Ser)
c.3113A>G (p.Asn1038Ser)
c.3140A>G (p.Asn1047Ser)
c.3137A>G (p.Asn1046Ser)
c.3119A>G (p.Asn1040Ser)
c.3062A>G (p.Asn1021Ser)
c.2996A>G (p.Asn999Ser)
c.1562A>G (p.Asn521Ser)
c.914A>G (p.Asn305Ser)
c.701A>G (p.Asn234Ser)
c.2975A>G (p.Asn992Ser)
c.3110A>G (p.Asn1037Ser)
c.3116A>G (p.Asn1039Ser)
c.3032A>G (p.Asn1011Ser)
c.3017A>G (p.Asn1006Ser)
c.2960A>G (p.Asn987Ser)
c.2894A>G (p.Asn965Ser)
c.2255A>G (p.Asn752Ser)
c.2873A>G (p.Asn958Ser)
9g.137813481A>TCA375794384EHMT1c.3131A>T (p.Asn1044Ile)
c.3038A>T (p.Asn1013Ile)
c.3171A>T (n.3171A>T)
c.1025A>T (p.Asn342Ile)
c.1988A>T (p.Asn663Ile)
n.657A>T
c.3122A>T (p.Asn1041Ile)
c.3113A>T (p.Asn1038Ile)
c.3140A>T (p.Asn1047Ile)
c.3137A>T (p.Asn1046Ile)
c.3119A>T (p.Asn1040Ile)
c.3062A>T (p.Asn1021Ile)
c.2996A>T (p.Asn999Ile)
c.1562A>T (p.Asn521Ile)
c.914A>T (p.Asn305Ile)
c.701A>T (p.Asn234Ile)
c.2975A>T (p.Asn992Ile)
c.3110A>T (p.Asn1037Ile)
c.3116A>T (p.Asn1039Ile)
c.3032A>T (p.Asn1011Ile)
c.3017A>T (p.Asn1006Ile)
c.2960A>T (p.Asn987Ile)
c.2894A>T (p.Asn965Ile)
c.2255A>T (p.Asn752Ile)
c.2873A>T (p.Asn958Ile)
9g.137813482C>ACA375794385EHMT1c.3132C>A (p.Asn1044Lys)
c.3039C>A (p.Asn1013Lys)
c.3172C>A (n.3172C>A)
c.1026C>A (p.Asn342Lys)
c.1989C>A (p.Asn663Lys)
n.658C>A
c.3123C>A (p.Asn1041Lys)
c.3114C>A (p.Asn1038Lys)
c.3141C>A (p.Asn1047Lys)
c.3138C>A (p.Asn1046Lys)
c.3120C>A (p.Asn1040Lys)
c.3063C>A (p.Asn1021Lys)
c.2997C>A (p.Asn999Lys)
c.1563C>A (p.Asn521Lys)
c.915C>A (p.Asn305Lys)
c.702C>A (p.Asn234Lys)
c.2976C>A (p.Asn992Lys)
c.3111C>A (p.Asn1037Lys)
c.3117C>A (p.Asn1039Lys)
c.3033C>A (p.Asn1011Lys)
c.3018C>A (p.Asn1006Lys)
c.2961C>A (p.Asn987Lys)
c.2895C>A (p.Asn965Lys)
c.2256C>A (p.Asn752Lys)
c.2874C>A (p.Asn958Lys)
9g.137813482C=CA1884685910EHMT1c.3132C= (p.Asn1044=)
c.3039C= (p.Asn1013=)
c.3172C= (n.3172C=)
c.1026C= (p.Asn342=)
c.1989C= (p.Asn663=)
n.658C=
c.3123C= (p.Asn1041=)
c.3114C= (p.Asn1038=)
c.3141C= (p.Asn1047=)
c.3138C= (p.Asn1046=)
c.3120C= (p.Asn1040=)
c.3063C= (p.Asn1021=)
c.2997C= (p.Asn999=)
c.1563C= (p.Asn521=)
c.915C= (p.Asn305=)
c.702C= (p.Asn234=)
c.2976C= (p.Asn992=)
c.3111C= (p.Asn1037=)
c.3117C= (p.Asn1039=)
c.3033C= (p.Asn1011=)
c.3018C= (p.Asn1006=)
c.2961C= (p.Asn987=)
c.2895C= (p.Asn965=)
c.2256C= (p.Asn752=)
c.2874C= (p.Asn958=)
9g.137813482C>GCA375794386EHMT1c.3132C>G (p.Asn1044Lys)
c.3039C>G (p.Asn1013Lys)
c.3172C>G (n.3172C>G)
c.1026C>G (p.Asn342Lys)
c.1989C>G (p.Asn663Lys)
n.658C>G
c.3123C>G (p.Asn1041Lys)
c.3114C>G (p.Asn1038Lys)
c.3141C>G (p.Asn1047Lys)
c.3138C>G (p.Asn1046Lys)
c.3120C>G (p.Asn1040Lys)
c.3063C>G (p.Asn1021Lys)
c.2997C>G (p.Asn999Lys)
c.1563C>G (p.Asn521Lys)
c.915C>G (p.Asn305Lys)
c.702C>G (p.Asn234Lys)
c.2976C>G (p.Asn992Lys)
c.3111C>G (p.Asn1037Lys)
c.3117C>G (p.Asn1039Lys)
c.3033C>G (p.Asn1011Lys)
c.3018C>G (p.Asn1006Lys)
c.2961C>G (p.Asn987Lys)
c.2895C>G (p.Asn965Lys)
c.2256C>G (p.Asn752Lys)
c.2874C>G (p.Asn958Lys)
9g.137813482C>TCA468161442EHMT1c.3132C>T (p.Asn1044=)
c.3039C>T (p.Asn1013=)
c.3172C>T (n.3172C>T)
c.1026C>T (p.Asn342=)
c.1989C>T (p.Asn663=)
n.658C>T
c.3123C>T (p.Asn1041=)
c.3114C>T (p.Asn1038=)
c.3141C>T (p.Asn1047=)
c.3138C>T (p.Asn1046=)
c.3120C>T (p.Asn1040=)
c.3063C>T (p.Asn1021=)
c.2997C>T (p.Asn999=)
c.1563C>T (p.Asn521=)
c.915C>T (p.Asn305=)
c.702C>T (p.Asn234=)
c.2976C>T (p.Asn992=)
c.3111C>T (p.Asn1037=)
c.3117C>T (p.Asn1039=)
c.3033C>T (p.Asn1011=)
c.3018C>T (p.Asn1006=)
c.2961C>T (p.Asn987=)
c.2895C>T (p.Asn965=)
c.2256C>T (p.Asn752=)
c.2874C>T (p.Asn958=)
 ClinVar dbSNP COSMIC COSMIC
9g.137813483T>ACA375794388EHMT1c.3133T>A (p.Cys1045Ser)
c.3040T>A (p.Cys1014Ser)
c.3173T>A (n.3173T>A)
c.1027T>A (p.Cys343Ser)
c.1990T>A (p.Cys664Ser)
n.659T>A
c.3124T>A (p.Cys1042Ser)
c.3115T>A (p.Cys1039Ser)
c.3142T>A (p.Cys1048Ser)
c.3139T>A (p.Cys1047Ser)
c.3121T>A (p.Cys1041Ser)
c.3064T>A (p.Cys1022Ser)
c.2998T>A (p.Cys1000Ser)
c.1564T>A (p.Cys522Ser)
c.916T>A (p.Cys306Ser)
c.703T>A (p.Cys235Ser)
c.2977T>A (p.Cys993Ser)
c.3112T>A (p.Cys1038Ser)
c.3118T>A (p.Cys1040Ser)
c.3034T>A (p.Cys1012Ser)
c.3019T>A (p.Cys1007Ser)
c.2962T>A (p.Cys988Ser)
c.2896T>A (p.Cys966Ser)
c.2257T>A (p.Cys753Ser)
c.2875T>A (p.Cys959Ser)
9g.137813483T>CCA375794389EHMT1c.3133T>C (p.Cys1045Arg)
c.3040T>C (p.Cys1014Arg)
c.3173T>C (n.3173T>C)
c.1027T>C (p.Cys343Arg)
c.1990T>C (p.Cys664Arg)
n.659T>C
c.3124T>C (p.Cys1042Arg)
c.3115T>C (p.Cys1039Arg)
c.3142T>C (p.Cys1048Arg)
c.3139T>C (p.Cys1047Arg)
c.3121T>C (p.Cys1041Arg)
c.3064T>C (p.Cys1022Arg)
c.2998T>C (p.Cys1000Arg)
c.1564T>C (p.Cys522Arg)
c.916T>C (p.Cys306Arg)
c.703T>C (p.Cys235Arg)
c.2977T>C (p.Cys993Arg)
c.3112T>C (p.Cys1038Arg)
c.3118T>C (p.Cys1040Arg)
c.3034T>C (p.Cys1012Arg)
c.3019T>C (p.Cys1007Arg)
c.2962T>C (p.Cys988Arg)
c.2896T>C (p.Cys966Arg)
c.2257T>C (p.Cys753Arg)
c.2875T>C (p.Cys959Arg)
9g.137813483T>GCA375794391EHMT1c.3133T>G (p.Cys1045Gly)
c.3040T>G (p.Cys1014Gly)
c.3173T>G (n.3173T>G)
c.1027T>G (p.Cys343Gly)
c.1990T>G (p.Cys664Gly)
n.659T>G
c.3124T>G (p.Cys1042Gly)
c.3115T>G (p.Cys1039Gly)
c.3142T>G (p.Cys1048Gly)
c.3139T>G (p.Cys1047Gly)
c.3121T>G (p.Cys1041Gly)
c.3064T>G (p.Cys1022Gly)
c.2998T>G (p.Cys1000Gly)
c.1564T>G (p.Cys522Gly)
c.916T>G (p.Cys306Gly)
c.703T>G (p.Cys235Gly)
c.2977T>G (p.Cys993Gly)
c.3112T>G (p.Cys1038Gly)
c.3118T>G (p.Cys1040Gly)
c.3034T>G (p.Cys1012Gly)
c.3019T>G (p.Cys1007Gly)
c.2962T>G (p.Cys988Gly)
c.2896T>G (p.Cys966Gly)
c.2257T>G (p.Cys753Gly)
c.2875T>G (p.Cys959Gly)
9g.137813484G>ACA375794392EHMT1c.3134G>A (p.Cys1045Tyr)
c.3041G>A (p.Cys1014Tyr)
c.3174G>A (n.3174G>A)
c.1028G>A (p.Cys343Tyr)
c.1991G>A (p.Cys664Tyr)
n.660G>A
c.3125G>A (p.Cys1042Tyr)
c.3116G>A (p.Cys1039Tyr)
c.3143G>A (p.Cys1048Tyr)
c.3140G>A (p.Cys1047Tyr)
c.3122G>A (p.Cys1041Tyr)
c.3065G>A (p.Cys1022Tyr)
c.2999G>A (p.Cys1000Tyr)
c.1565G>A (p.Cys522Tyr)
c.917G>A (p.Cys306Tyr)
c.704G>A (p.Cys235Tyr)
c.2978G>A (p.Cys993Tyr)
c.3113G>A (p.Cys1038Tyr)
c.3119G>A (p.Cys1040Tyr)
c.3035G>A (p.Cys1012Tyr)
c.3020G>A (p.Cys1007Tyr)
c.2963G>A (p.Cys988Tyr)
c.2897G>A (p.Cys966Tyr)
c.2258G>A (p.Cys753Tyr)
c.2876G>A (p.Cys959Tyr)
 ClinVar
9g.137813484G>CCA375794394EHMT1c.3134G>C (p.Cys1045Ser)
c.3041G>C (p.Cys1014Ser)
c.3174G>C (n.3174G>C)
c.1028G>C (p.Cys343Ser)
c.1991G>C (p.Cys664Ser)
n.660G>C
c.3125G>C (p.Cys1042Ser)
c.3116G>C (p.Cys1039Ser)
c.3143G>C (p.Cys1048Ser)
c.3140G>C (p.Cys1047Ser)
c.3122G>C (p.Cys1041Ser)
c.3065G>C (p.Cys1022Ser)
c.2999G>C (p.Cys1000Ser)
c.1565G>C (p.Cys522Ser)
c.917G>C (p.Cys306Ser)
c.704G>C (p.Cys235Ser)
c.2978G>C (p.Cys993Ser)
c.3113G>C (p.Cys1038Ser)
c.3119G>C (p.Cys1040Ser)
c.3035G>C (p.Cys1012Ser)
c.3020G>C (p.Cys1007Ser)
c.2963G>C (p.Cys988Ser)
c.2897G>C (p.Cys966Ser)
c.2258G>C (p.Cys753Ser)
c.2876G>C (p.Cys959Ser)
9g.137813484G>TCA375794397EHMT1c.3134G>T (p.Cys1045Phe)
c.3041G>T (p.Cys1014Phe)
c.3174G>T (n.3174G>T)
c.1028G>T (p.Cys343Phe)
c.1991G>T (p.Cys664Phe)
n.660G>T
c.3125G>T (p.Cys1042Phe)
c.3116G>T (p.Cys1039Phe)
c.3143G>T (p.Cys1048Phe)
c.3140G>T (p.Cys1047Phe)
c.3122G>T (p.Cys1041Phe)
c.3065G>T (p.Cys1022Phe)
c.2999G>T (p.Cys1000Phe)
c.1565G>T (p.Cys522Phe)
c.917G>T (p.Cys306Phe)
c.704G>T (p.Cys235Phe)
c.2978G>T (p.Cys993Phe)
c.3113G>T (p.Cys1038Phe)
c.3119G>T (p.Cys1040Phe)
c.3035G>T (p.Cys1012Phe)
c.3020G>T (p.Cys1007Phe)
c.2963G>T (p.Cys988Phe)
c.2897G>T (p.Cys966Phe)
c.2258G>T (p.Cys753Phe)
c.2876G>T (p.Cys959Phe)
9g.137813485C>ACA375794400EHMT1c.3135C>A (p.Cys1045Ter)
c.3042C>A (p.Cys1014Ter)
c.3175C>A (n.3175C>A)
c.1029C>A (p.Cys343Ter)
c.1992C>A (p.Cys664Ter)
n.661C>A
c.3126C>A (p.Cys1042Ter)
c.3117C>A (p.Cys1039Ter)
c.3144C>A (p.Cys1048Ter)
c.3141C>A (p.Cys1047Ter)
c.3123C>A (p.Cys1041Ter)
c.3066C>A (p.Cys1022Ter)
c.3000C>A (p.Cys1000Ter)
c.1566C>A (p.Cys522Ter)
c.918C>A (p.Cys306Ter)
c.705C>A (p.Cys235Ter)
c.2979C>A (p.Cys993Ter)
c.3114C>A (p.Cys1038Ter)
c.3120C>A (p.Cys1040Ter)
c.3036C>A (p.Cys1012Ter)
c.3021C>A (p.Cys1007Ter)
c.2964C>A (p.Cys988Ter)
c.2898C>A (p.Cys966Ter)
c.2259C>A (p.Cys753Ter)
c.2877C>A (p.Cys959Ter)
9g.137813485C=CA1884685911EHMT1c.3135C= (p.Cys1045=)
c.3042C= (p.Cys1014=)
c.3175C= (n.3175C=)
c.1029C= (p.Cys343=)
c.1992C= (p.Cys664=)
n.661C=
c.3126C= (p.Cys1042=)
c.3117C= (p.Cys1039=)
c.3144C= (p.Cys1048=)
c.3141C= (p.Cys1047=)
c.3123C= (p.Cys1041=)
c.3066C= (p.Cys1022=)
c.3000C= (p.Cys1000=)
c.1566C= (p.Cys522=)
c.918C= (p.Cys306=)
c.705C= (p.Cys235=)
c.2979C= (p.Cys993=)
c.3114C= (p.Cys1038=)
c.3120C= (p.Cys1040=)
c.3036C= (p.Cys1012=)
c.3021C= (p.Cys1007=)
c.2964C= (p.Cys988=)
c.2898C= (p.Cys966=)
c.2259C= (p.Cys753=)
c.2877C= (p.Cys959=)
9g.137813485C>GCA375794401EHMT1c.3135C>G (p.Cys1045Trp)
c.3042C>G (p.Cys1014Trp)
c.3175C>G (n.3175C>G)
c.1029C>G (p.Cys343Trp)
c.1992C>G (p.Cys664Trp)
n.661C>G
c.3126C>G (p.Cys1042Trp)
c.3117C>G (p.Cys1039Trp)
c.3144C>G (p.Cys1048Trp)
c.3141C>G (p.Cys1047Trp)
c.3123C>G (p.Cys1041Trp)
c.3066C>G (p.Cys1022Trp)
c.3000C>G (p.Cys1000Trp)
c.1566C>G (p.Cys522Trp)
c.918C>G (p.Cys306Trp)
c.705C>G (p.Cys235Trp)
c.2979C>G (p.Cys993Trp)
c.3114C>G (p.Cys1038Trp)
c.3120C>G (p.Cys1040Trp)
c.3036C>G (p.Cys1012Trp)
c.3021C>G (p.Cys1007Trp)
c.2964C>G (p.Cys988Trp)
c.2898C>G (p.Cys966Trp)
c.2259C>G (p.Cys753Trp)
c.2877C>G (p.Cys959Trp)
9g.137813485C>TCA5375173EHMT1c.3135C>T (p.Cys1045=)
c.3042C>T (p.Cys1014=)
c.3175C>T (n.3175C>T)
c.1029C>T (p.Cys343=)
c.1992C>T (p.Cys664=)
n.661C>T
c.3126C>T (p.Cys1042=)
c.3117C>T (p.Cys1039=)
c.3144C>T (p.Cys1048=)
c.3141C>T (p.Cys1047=)
c.3123C>T (p.Cys1041=)
c.3066C>T (p.Cys1022=)
c.3000C>T (p.Cys1000=)
c.1566C>T (p.Cys522=)
c.918C>T (p.Cys306=)
c.705C>T (p.Cys235=)
c.2979C>T (p.Cys993=)
c.3114C>T (p.Cys1038=)
c.3120C>T (p.Cys1040=)
c.3036C>T (p.Cys1012=)
c.3021C>T (p.Cys1007=)
c.2964C>T (p.Cys988=)
c.2898C>T (p.Cys966=)
c.2259C>T (p.Cys753=)
c.2877C>T (p.Cys959=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.137813486G>ACA375794405EHMT1c.3136G>A (p.Val1046Met)
c.3043G>A (p.Val1015Met)
c.3176G>A (n.3176G>A)
c.1030G>A (p.Val344Met)
c.1993G>A (p.Val665Met)
n.662G>A
c.3127G>A (p.Val1043Met)
c.3118G>A (p.Val1040Met)
c.3145G>A (p.Val1049Met)
c.3142G>A (p.Val1048Met)
c.3124G>A (p.Val1042Met)
c.3067G>A (p.Val1023Met)
c.3001G>A (p.Val1001Met)
c.1567G>A (p.Val523Met)
c.919G>A (p.Val307Met)
c.706G>A (p.Val236Met)
c.2980G>A (p.Val994Met)
c.3115G>A (p.Val1039Met)
c.3121G>A (p.Val1041Met)
c.3037G>A (p.Val1013Met)
c.3022G>A (p.Val1008Met)
c.2965G>A (p.Val989Met)
c.2899G>A (p.Val967Met)
c.2260G>A (p.Val754Met)
c.2878G>A (p.Val960Met)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.137813486G>CCA375794408EHMT1c.3136G>C (p.Val1046Leu)
c.3043G>C (p.Val1015Leu)
c.3176G>C (n.3176G>C)
c.1030G>C (p.Val344Leu)
c.1993G>C (p.Val665Leu)
n.662G>C
c.3127G>C (p.Val1043Leu)
c.3118G>C (p.Val1040Leu)
c.3145G>C (p.Val1049Leu)
c.3142G>C (p.Val1048Leu)
c.3124G>C (p.Val1042Leu)
c.3067G>C (p.Val1023Leu)
c.3001G>C (p.Val1001Leu)
c.1567G>C (p.Val523Leu)
c.919G>C (p.Val307Leu)
c.706G>C (p.Val236Leu)
c.2980G>C (p.Val994Leu)
c.3115G>C (p.Val1039Leu)
c.3121G>C (p.Val1041Leu)
c.3037G>C (p.Val1013Leu)
c.3022G>C (p.Val1008Leu)
c.2965G>C (p.Val989Leu)
c.2899G>C (p.Val967Leu)
c.2260G>C (p.Val754Leu)
c.2878G>C (p.Val960Leu)
9g.137813486G=CA1884685912EHMT1c.3136G= (p.Val1046=)
c.3043G= (p.Val1015=)
c.3176G= (n.3176G=)
c.1030G= (p.Val344=)
c.1993G= (p.Val665=)
n.662G=
c.3127G= (p.Val1043=)
c.3118G= (p.Val1040=)
c.3145G= (p.Val1049=)
c.3142G= (p.Val1048=)
c.3124G= (p.Val1042=)
c.3067G= (p.Val1023=)
c.3001G= (p.Val1001=)
c.1567G= (p.Val523=)
c.919G= (p.Val307=)
c.706G= (p.Val236=)
c.2980G= (p.Val994=)
c.3115G= (p.Val1039=)
c.3121G= (p.Val1041=)
c.3037G= (p.Val1013=)
c.3022G= (p.Val1008=)
c.2965G= (p.Val989=)
c.2899G= (p.Val967=)
c.2260G= (p.Val754=)
c.2878G= (p.Val960=)
9g.137813486G>TCA375794410EHMT1c.3136G>T (p.Val1046Leu)
c.3043G>T (p.Val1015Leu)
c.3176G>T (n.3176G>T)
c.1030G>T (p.Val344Leu)
c.1993G>T (p.Val665Leu)
n.662G>T
c.3127G>T (p.Val1043Leu)
c.3118G>T (p.Val1040Leu)
c.3145G>T (p.Val1049Leu)
c.3142G>T (p.Val1048Leu)
c.3124G>T (p.Val1042Leu)
c.3067G>T (p.Val1023Leu)
c.3001G>T (p.Val1001Leu)
c.1567G>T (p.Val523Leu)
c.919G>T (p.Val307Leu)
c.706G>T (p.Val236Leu)
c.2980G>T (p.Val994Leu)
c.3115G>T (p.Val1039Leu)
c.3121G>T (p.Val1041Leu)
c.3037G>T (p.Val1013Leu)
c.3022G>T (p.Val1008Leu)
c.2965G>T (p.Val989Leu)
c.2899G>T (p.Val967Leu)
c.2260G>T (p.Val754Leu)
c.2878G>T (p.Val960Leu)
9g.137813487T>ACA375794412EHMT1c.3137T>A (p.Val1046Glu)
c.3044T>A (p.Val1015Glu)
c.3177T>A (n.3177T>A)
c.1031T>A (p.Val344Glu)
c.1994T>A (p.Val665Glu)
n.663T>A
c.3128T>A (p.Val1043Glu)
c.3119T>A (p.Val1040Glu)
c.3146T>A (p.Val1049Glu)
c.3143T>A (p.Val1048Glu)
c.3125T>A (p.Val1042Glu)
c.3068T>A (p.Val1023Glu)
c.3002T>A (p.Val1001Glu)
c.1568T>A (p.Val523Glu)
c.920T>A (p.Val307Glu)
c.707T>A (p.Val236Glu)
c.2981T>A (p.Val994Glu)
c.3116T>A (p.Val1039Glu)
c.3122T>A (p.Val1041Glu)
c.3038T>A (p.Val1013Glu)
c.3023T>A (p.Val1008Glu)
c.2966T>A (p.Val989Glu)
c.2900T>A (p.Val967Glu)
c.2261T>A (p.Val754Glu)
c.2879T>A (p.Val960Glu)
9g.137813487T>CCA375794417EHMT1c.3137T>C (p.Val1046Ala)
c.3044T>C (p.Val1015Ala)
c.3177T>C (n.3177T>C)
c.1031T>C (p.Val344Ala)
c.1994T>C (p.Val665Ala)
n.663T>C
c.3128T>C (p.Val1043Ala)
c.3119T>C (p.Val1040Ala)
c.3146T>C (p.Val1049Ala)
c.3143T>C (p.Val1048Ala)
c.3125T>C (p.Val1042Ala)
c.3068T>C (p.Val1023Ala)
c.3002T>C (p.Val1001Ala)
c.1568T>C (p.Val523Ala)
c.920T>C (p.Val307Ala)
c.707T>C (p.Val236Ala)
c.2981T>C (p.Val994Ala)
c.3116T>C (p.Val1039Ala)
c.3122T>C (p.Val1041Ala)
c.3038T>C (p.Val1013Ala)
c.3023T>C (p.Val1008Ala)
c.2966T>C (p.Val989Ala)
c.2900T>C (p.Val967Ala)
c.2261T>C (p.Val754Ala)
c.2879T>C (p.Val960Ala)
9g.137813487T>GCA375794414EHMT1c.3137T>G (p.Val1046Gly)
c.3044T>G (p.Val1015Gly)
c.3177T>G (n.3177T>G)
c.1031T>G (p.Val344Gly)
c.1994T>G (p.Val665Gly)
n.663T>G
c.3128T>G (p.Val1043Gly)
c.3119T>G (p.Val1040Gly)
c.3146T>G (p.Val1049Gly)
c.3143T>G (p.Val1048Gly)
c.3125T>G (p.Val1042Gly)
c.3068T>G (p.Val1023Gly)
c.3002T>G (p.Val1001Gly)
c.1568T>G (p.Val523Gly)
c.920T>G (p.Val307Gly)
c.707T>G (p.Val236Gly)
c.2981T>G (p.Val994Gly)
c.3116T>G (p.Val1039Gly)
c.3122T>G (p.Val1041Gly)
c.3038T>G (p.Val1013Gly)
c.3023T>G (p.Val1008Gly)
c.2966T>G (p.Val989Gly)
c.2900T>G (p.Val967Gly)
c.2261T>G (p.Val754Gly)
c.2879T>G (p.Val960Gly)
9g.137813488G>ACA467878168EHMT1c.3138G>A (p.Val1046=)
c.3045G>A (p.Val1015=)
c.3178G>A (n.3178G>A)
c.1032G>A (p.Val344=)
c.1995G>A (p.Val665=)
n.664G>A
c.3129G>A (p.Val1043=)
c.3120G>A (p.Val1040=)
c.3147G>A (p.Val1049=)
c.3144G>A (p.Val1048=)
c.3126G>A (p.Val1042=)
c.3069G>A (p.Val1023=)
c.3003G>A (p.Val1001=)
c.1569G>A (p.Val523=)
c.921G>A (p.Val307=)
c.708G>A (p.Val236=)
c.2982G>A (p.Val994=)
c.3117G>A (p.Val1039=)
c.3123G>A (p.Val1041=)
c.3039G>A (p.Val1013=)
c.3024G>A (p.Val1008=)
c.2967G>A (p.Val989=)
c.2901G>A (p.Val967=)
c.2262G>A (p.Val754=)
c.2880G>A (p.Val960=)
9g.137813488G>CCA467878169EHMT1c.3138G>C (p.Val1046=)
c.3045G>C (p.Val1015=)
c.3178G>C (n.3178G>C)
c.1032G>C (p.Val344=)
c.1995G>C (p.Val665=)
n.664G>C
c.3129G>C (p.Val1043=)
c.3120G>C (p.Val1040=)
c.3147G>C (p.Val1049=)
c.3144G>C (p.Val1048=)
c.3126G>C (p.Val1042=)
c.3069G>C (p.Val1023=)
c.3003G>C (p.Val1001=)
c.1569G>C (p.Val523=)
c.921G>C (p.Val307=)
c.708G>C (p.Val236=)
c.2982G>C (p.Val994=)
c.3117G>C (p.Val1039=)
c.3123G>C (p.Val1041=)
c.3039G>C (p.Val1013=)
c.3024G>C (p.Val1008=)
c.2967G>C (p.Val989=)
c.2901G>C (p.Val967=)
c.2262G>C (p.Val754=)
c.2880G>C (p.Val960=)
 COSMIC COSMIC
9g.137813488G>TCA467878170EHMT1c.3138G>T (p.Val1046=)
c.3045G>T (p.Val1015=)
c.3178G>T (n.3178G>T)
c.1032G>T (p.Val344=)
c.1995G>T (p.Val665=)
n.664G>T
c.3129G>T (p.Val1043=)
c.3120G>T (p.Val1040=)
c.3147G>T (p.Val1049=)
c.3144G>T (p.Val1048=)
c.3126G>T (p.Val1042=)
c.3069G>T (p.Val1023=)
c.3003G>T (p.Val1001=)
c.1569G>T (p.Val523=)
c.921G>T (p.Val307=)
c.708G>T (p.Val236=)
c.2982G>T (p.Val994=)
c.3117G>T (p.Val1039=)
c.3123G>T (p.Val1041=)
c.3039G>T (p.Val1013=)
c.3024G>T (p.Val1008=)
c.2967G>T (p.Val989=)
c.2901G>T (p.Val967=)
c.2262G>T (p.Val754=)
c.2880G>T (p.Val960=)
9g.137813489A>CCA375794420EHMT1c.3139A>C (p.Thr1047Pro)
c.3046A>C (p.Thr1016Pro)
c.3179A>C (n.3179A>C)
c.1033A>C (p.Thr345Pro)
c.1996A>C (p.Thr666Pro)
n.665A>C
c.3130A>C (p.Thr1044Pro)
c.3121A>C (p.Thr1041Pro)
c.3148A>C (p.Thr1050Pro)
c.3145A>C (p.Thr1049Pro)
c.3127A>C (p.Thr1043Pro)
c.3070A>C (p.Thr1024Pro)
c.3004A>C (p.Thr1002Pro)
c.1570A>C (p.Thr524Pro)
c.922A>C (p.Thr308Pro)
c.709A>C (p.Thr237Pro)
c.2983A>C (p.Thr995Pro)
c.3118A>C (p.Thr1040Pro)
c.3124A>C (p.Thr1042Pro)
c.3040A>C (p.Thr1014Pro)
c.3025A>C (p.Thr1009Pro)
c.2968A>C (p.Thr990Pro)
c.2902A>C (p.Thr968Pro)
c.2263A>C (p.Thr755Pro)
c.2881A>C (p.Thr961Pro)
9g.137813489A>GCA375794421EHMT1c.3139A>G (p.Thr1047Ala)
c.3046A>G (p.Thr1016Ala)
c.3179A>G (n.3179A>G)
c.1033A>G (p.Thr345Ala)
c.1996A>G (p.Thr666Ala)
n.665A>G
c.3130A>G (p.Thr1044Ala)
c.3121A>G (p.Thr1041Ala)
c.3148A>G (p.Thr1050Ala)
c.3145A>G (p.Thr1049Ala)
c.3127A>G (p.Thr1043Ala)
c.3070A>G (p.Thr1024Ala)
c.3004A>G (p.Thr1002Ala)
c.1570A>G (p.Thr524Ala)
c.922A>G (p.Thr308Ala)
c.709A>G (p.Thr237Ala)
c.2983A>G (p.Thr995Ala)
c.3118A>G (p.Thr1040Ala)
c.3124A>G (p.Thr1042Ala)
c.3040A>G (p.Thr1014Ala)
c.3025A>G (p.Thr1009Ala)
c.2968A>G (p.Thr990Ala)
c.2902A>G (p.Thr968Ala)
c.2263A>G (p.Thr755Ala)
c.2881A>G (p.Thr961Ala)
9g.137813489A>TCA375794424EHMT1c.3139A>T (p.Thr1047Ser)
c.3046A>T (p.Thr1016Ser)
c.3179A>T (n.3179A>T)
c.1033A>T (p.Thr345Ser)
c.1996A>T (p.Thr666Ser)
n.665A>T
c.3130A>T (p.Thr1044Ser)
c.3121A>T (p.Thr1041Ser)
c.3148A>T (p.Thr1050Ser)
c.3145A>T (p.Thr1049Ser)
c.3127A>T (p.Thr1043Ser)
c.3070A>T (p.Thr1024Ser)
c.3004A>T (p.Thr1002Ser)
c.1570A>T (p.Thr524Ser)
c.922A>T (p.Thr308Ser)
c.709A>T (p.Thr237Ser)
c.2983A>T (p.Thr995Ser)
c.3118A>T (p.Thr1040Ser)
c.3124A>T (p.Thr1042Ser)
c.3040A>T (p.Thr1014Ser)
c.3025A>T (p.Thr1009Ser)
c.2968A>T (p.Thr990Ser)
c.2902A>T (p.Thr968Ser)
c.2263A>T (p.Thr755Ser)
c.2881A>T (p.Thr961Ser)
9g.137813490C>ACA375794433EHMT1c.3140C>A (p.Thr1047Lys)
c.3047C>A (p.Thr1016Lys)
c.3180C>A (n.3180C>A)
c.1034C>A (p.Thr345Lys)
c.1997C>A (p.Thr666Lys)
n.666C>A
c.3131C>A (p.Thr1044Lys)
c.3122C>A (p.Thr1041Lys)
c.3149C>A (p.Thr1050Lys)
c.3146C>A (p.Thr1049Lys)
c.3128C>A (p.Thr1043Lys)
c.3071C>A (p.Thr1024Lys)
c.3005C>A (p.Thr1002Lys)
c.1571C>A (p.Thr524Lys)
c.923C>A (p.Thr308Lys)
c.710C>A (p.Thr237Lys)
c.2984C>A (p.Thr995Lys)
c.3119C>A (p.Thr1040Lys)
c.3125C>A (p.Thr1042Lys)
c.3041C>A (p.Thr1014Lys)
c.3026C>A (p.Thr1009Lys)
c.2969C>A (p.Thr990Lys)
c.2903C>A (p.Thr968Lys)
c.2264C>A (p.Thr755Lys)
c.2882C>A (p.Thr961Lys)
9g.137813490C=CA1884685913EHMT1c.3140C= (p.Thr1047=)
c.3047C= (p.Thr1016=)
c.3180C= (n.3180C=)
c.1034C= (p.Thr345=)
c.1997C= (p.Thr666=)
n.666C=
c.3131C= (p.Thr1044=)
c.3122C= (p.Thr1041=)
c.3149C= (p.Thr1050=)
c.3146C= (p.Thr1049=)
c.3128C= (p.Thr1043=)
c.3071C= (p.Thr1024=)
c.3005C= (p.Thr1002=)
c.1571C= (p.Thr524=)
c.923C= (p.Thr308=)
c.710C= (p.Thr237=)
c.2984C= (p.Thr995=)
c.3119C= (p.Thr1040=)
c.3125C= (p.Thr1042=)
c.3041C= (p.Thr1014=)
c.3026C= (p.Thr1009=)
c.2969C= (p.Thr990=)
c.2903C= (p.Thr968=)
c.2264C= (p.Thr755=)
c.2882C= (p.Thr961=)
9g.137813490C>GCA5375174EHMT1c.3140C>G (p.Thr1047Arg)
c.3047C>G (p.Thr1016Arg)
c.3180C>G (n.3180C>G)
c.1034C>G (p.Thr345Arg)
c.1997C>G (p.Thr666Arg)
n.666C>G
c.3131C>G (p.Thr1044Arg)
c.3122C>G (p.Thr1041Arg)
c.3149C>G (p.Thr1050Arg)
c.3146C>G (p.Thr1049Arg)
c.3128C>G (p.Thr1043Arg)
c.3071C>G (p.Thr1024Arg)
c.3005C>G (p.Thr1002Arg)
c.1571C>G (p.Thr524Arg)
c.923C>G (p.Thr308Arg)
c.710C>G (p.Thr237Arg)
c.2984C>G (p.Thr995Arg)
c.3119C>G (p.Thr1040Arg)
c.3125C>G (p.Thr1042Arg)
c.3041C>G (p.Thr1014Arg)
c.3026C>G (p.Thr1009Arg)
c.2969C>G (p.Thr990Arg)
c.2903C>G (p.Thr968Arg)
c.2264C>G (p.Thr755Arg)
c.2882C>G (p.Thr961Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813490C>TCA375794437EHMT1c.3140C>T (p.Thr1047Met)
c.3047C>T (p.Thr1016Met)
c.3180C>T (n.3180C>T)
c.1034C>T (p.Thr345Met)
c.1997C>T (p.Thr666Met)
n.666C>T
c.3131C>T (p.Thr1044Met)
c.3122C>T (p.Thr1041Met)
c.3149C>T (p.Thr1050Met)
c.3146C>T (p.Thr1049Met)
c.3128C>T (p.Thr1043Met)
c.3071C>T (p.Thr1024Met)
c.3005C>T (p.Thr1002Met)
c.1571C>T (p.Thr524Met)
c.923C>T (p.Thr308Met)
c.710C>T (p.Thr237Met)
c.2984C>T (p.Thr995Met)
c.3119C>T (p.Thr1040Met)
c.3125C>T (p.Thr1042Met)
c.3041C>T (p.Thr1014Met)
c.3026C>T (p.Thr1009Met)
c.2969C>T (p.Thr990Met)
c.2903C>T (p.Thr968Met)
c.2264C>T (p.Thr755Met)
c.2882C>T (p.Thr961Met)
 dbSNP gnomAD v3 gnomAD v4
9g.137813491G>ACA5375175EHMT1c.3141G>A (p.Thr1047=)
c.3048G>A (p.Thr1016=)
c.3181G>A (n.3181G>A)
c.1035G>A (p.Thr345=)
c.1998G>A (p.Thr666=)
n.1G>A
n.667G>A
c.3132G>A (p.Thr1044=)
c.3123G>A (p.Thr1041=)
c.3150G>A (p.Thr1050=)
c.3147G>A (p.Thr1049=)
c.3129G>A (p.Thr1043=)
c.3072G>A (p.Thr1024=)
c.3006G>A (p.Thr1002=)
c.1572G>A (p.Thr524=)
c.924G>A (p.Thr308=)
c.711G>A (p.Thr237=)
c.2985G>A (p.Thr995=)
c.3120G>A (p.Thr1040=)
c.3126G>A (p.Thr1042=)
c.3042G>A (p.Thr1014=)
c.3027G>A (p.Thr1009=)
c.2970G>A (p.Thr990=)
c.2904G>A (p.Thr968=)
c.2265G>A (p.Thr755=)
c.2883G>A (p.Thr961=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813491G>CCA467878171EHMT1c.3141G>C (p.Thr1047=)
c.3048G>C (p.Thr1016=)
c.3181G>C (n.3181G>C)
c.1035G>C (p.Thr345=)
c.1998G>C (p.Thr666=)
n.1G>C
n.667G>C
c.3132G>C (p.Thr1044=)
c.3123G>C (p.Thr1041=)
c.3150G>C (p.Thr1050=)
c.3147G>C (p.Thr1049=)
c.3129G>C (p.Thr1043=)
c.3072G>C (p.Thr1024=)
c.3006G>C (p.Thr1002=)
c.1572G>C (p.Thr524=)
c.924G>C (p.Thr308=)
c.711G>C (p.Thr237=)
c.2985G>C (p.Thr995=)
c.3120G>C (p.Thr1040=)
c.3126G>C (p.Thr1042=)
c.3042G>C (p.Thr1014=)
c.3027G>C (p.Thr1009=)
c.2970G>C (p.Thr990=)
c.2904G>C (p.Thr968=)
c.2265G>C (p.Thr755=)
c.2883G>C (p.Thr961=)
9g.137813491G=CA1884685914EHMT1c.3141G= (p.Thr1047=)
c.3048G= (p.Thr1016=)
c.3181G= (n.3181G=)
c.1035G= (p.Thr345=)
c.1998G= (p.Thr666=)
n.1G=
n.667G=
c.3132G= (p.Thr1044=)
c.3123G= (p.Thr1041=)
c.3150G= (p.Thr1050=)
c.3147G= (p.Thr1049=)
c.3129G= (p.Thr1043=)
c.3072G= (p.Thr1024=)
c.3006G= (p.Thr1002=)
c.1572G= (p.Thr524=)
c.924G= (p.Thr308=)
c.711G= (p.Thr237=)
c.2985G= (p.Thr995=)
c.3120G= (p.Thr1040=)
c.3126G= (p.Thr1042=)
c.3042G= (p.Thr1014=)
c.3027G= (p.Thr1009=)
c.2970G= (p.Thr990=)
c.2904G= (p.Thr968=)
c.2265G= (p.Thr755=)
c.2883G= (p.Thr961=)
9g.137813491G>TCA467878172EHMT1c.3141G>T (p.Thr1047=)
c.3048G>T (p.Thr1016=)
c.3181G>T (n.3181G>T)
c.1035G>T (p.Thr345=)
c.1998G>T (p.Thr666=)
n.1G>T
n.667G>T
c.3132G>T (p.Thr1044=)
c.3123G>T (p.Thr1041=)
c.3150G>T (p.Thr1050=)
c.3147G>T (p.Thr1049=)
c.3129G>T (p.Thr1043=)
c.3072G>T (p.Thr1024=)
c.3006G>T (p.Thr1002=)
c.1572G>T (p.Thr524=)
c.924G>T (p.Thr308=)
c.711G>T (p.Thr237=)
c.2985G>T (p.Thr995=)
c.3120G>T (p.Thr1040=)
c.3126G>T (p.Thr1042=)
c.3042G>T (p.Thr1014=)
c.3027G>T (p.Thr1009=)
c.2970G>T (p.Thr990=)
c.2904G>T (p.Thr968=)
c.2265G>T (p.Thr755=)
c.2883G>T (p.Thr961=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813492T>ACA375794442EHMT1c.3142T>A (p.Ser1048Thr)
c.3049T>A (p.Ser1017Thr)
c.3182T>A (n.3182T>A)
c.1036T>A (p.Ser346Thr)
c.1999T>A (p.Ser667Thr)
n.2T>A
n.668T>A
c.3133T>A (p.Ser1045Thr)
c.3124T>A (p.Ser1042Thr)
c.3151T>A (p.Ser1051Thr)
c.3148T>A (p.Ser1050Thr)
c.3130T>A (p.Ser1044Thr)
c.3073T>A (p.Ser1025Thr)
c.3007T>A (p.Ser1003Thr)
c.1573T>A (p.Ser525Thr)
c.925T>A (p.Ser309Thr)
c.712T>A (p.Ser238Thr)
c.2986T>A (p.Ser996Thr)
c.3121T>A (p.Ser1041Thr)
c.3127T>A (p.Ser1043Thr)
c.3043T>A (p.Ser1015Thr)
c.3028T>A (p.Ser1010Thr)
c.2971T>A (p.Ser991Thr)
c.2905T>A (p.Ser969Thr)
c.2266T>A (p.Ser756Thr)
c.2884T>A (p.Ser962Thr)
9g.137813492T>CCA375794444EHMT1c.3142T>C (p.Ser1048Pro)
c.3049T>C (p.Ser1017Pro)
c.3182T>C (n.3182T>C)
c.1036T>C (p.Ser346Pro)
c.1999T>C (p.Ser667Pro)
n.2T>C
n.668T>C
c.3133T>C (p.Ser1045Pro)
c.3124T>C (p.Ser1042Pro)
c.3151T>C (p.Ser1051Pro)
c.3148T>C (p.Ser1050Pro)
c.3130T>C (p.Ser1044Pro)
c.3073T>C (p.Ser1025Pro)
c.3007T>C (p.Ser1003Pro)
c.1573T>C (p.Ser525Pro)
c.925T>C (p.Ser309Pro)
c.712T>C (p.Ser238Pro)
c.2986T>C (p.Ser996Pro)
c.3121T>C (p.Ser1041Pro)
c.3127T>C (p.Ser1043Pro)
c.3043T>C (p.Ser1015Pro)
c.3028T>C (p.Ser1010Pro)
c.2971T>C (p.Ser991Pro)
c.2905T>C (p.Ser969Pro)
c.2266T>C (p.Ser756Pro)
c.2884T>C (p.Ser962Pro)
9g.137813492T>GCA375794446EHMT1c.3142T>G (p.Ser1048Ala)
c.3049T>G (p.Ser1017Ala)
c.3182T>G (n.3182T>G)
c.1036T>G (p.Ser346Ala)
c.1999T>G (p.Ser667Ala)
n.2T>G
n.668T>G
c.3133T>G (p.Ser1045Ala)
c.3124T>G (p.Ser1042Ala)
c.3151T>G (p.Ser1051Ala)
c.3148T>G (p.Ser1050Ala)
c.3130T>G (p.Ser1044Ala)
c.3073T>G (p.Ser1025Ala)
c.3007T>G (p.Ser1003Ala)
c.1573T>G (p.Ser525Ala)
c.925T>G (p.Ser309Ala)
c.712T>G (p.Ser238Ala)
c.2986T>G (p.Ser996Ala)
c.3121T>G (p.Ser1041Ala)
c.3127T>G (p.Ser1043Ala)
c.3043T>G (p.Ser1015Ala)
c.3028T>G (p.Ser1010Ala)
c.2971T>G (p.Ser991Ala)
c.2905T>G (p.Ser969Ala)
c.2266T>G (p.Ser756Ala)
c.2884T>G (p.Ser962Ala)
9g.137813493C>ACA375794449EHMT1c.3143C>A (p.Ser1048Tyr)
c.3050C>A (p.Ser1017Tyr)
c.3183C>A (n.3183C>A)
c.1037C>A (p.Ser346Tyr)
c.2000C>A (p.Ser667Tyr)
n.3C>A
n.669C>A
c.3134C>A (p.Ser1045Tyr)
c.3125C>A (p.Ser1042Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3149C>A (p.Ser1050Tyr)
c.3131C>A (p.Ser1044Tyr)
c.3074C>A (p.Ser1025Tyr)
c.3008C>A (p.Ser1003Tyr)
c.1574C>A (p.Ser525Tyr)
c.926C>A (p.Ser309Tyr)
c.713C>A (p.Ser238Tyr)
c.2987C>A (p.Ser996Tyr)
c.3122C>A (p.Ser1041Tyr)
c.3128C>A (p.Ser1043Tyr)
c.3044C>A (p.Ser1015Tyr)
c.3029C>A (p.Ser1010Tyr)
c.2972C>A (p.Ser991Tyr)
c.2906C>A (p.Ser969Tyr)
c.2267C>A (p.Ser756Tyr)
c.2885C>A (p.Ser962Tyr)
9g.137813493C=CA1884685915EHMT1c.3143C= (p.Ser1048=)
c.3050C= (p.Ser1017=)
c.3183C= (n.3183C=)
c.1037C= (p.Ser346=)
c.2000C= (p.Ser667=)
n.3C=
n.669C=
c.3134C= (p.Ser1045=)
c.3125C= (p.Ser1042=)
c.3152C= (p.Ser1051=)
c.3149C= (p.Ser1050=)
c.3131C= (p.Ser1044=)
c.3074C= (p.Ser1025=)
c.3008C= (p.Ser1003=)
c.1574C= (p.Ser525=)
c.926C= (p.Ser309=)
c.713C= (p.Ser238=)
c.2987C= (p.Ser996=)
c.3122C= (p.Ser1041=)
c.3128C= (p.Ser1043=)
c.3044C= (p.Ser1015=)
c.3029C= (p.Ser1010=)
c.2972C= (p.Ser991=)
c.2906C= (p.Ser969=)
c.2267C= (p.Ser756=)
c.2885C= (p.Ser962=)
9g.137813493C>GCA5375176EHMT1c.3143C>G (p.Ser1048Cys)
c.3050C>G (p.Ser1017Cys)
c.3183C>G (n.3183C>G)
c.1037C>G (p.Ser346Cys)
c.2000C>G (p.Ser667Cys)
n.3C>G
n.669C>G
c.3134C>G (p.Ser1045Cys)
c.3125C>G (p.Ser1042Cys)
c.3152C>G (p.Ser1051Cys)
c.3149C>G (p.Ser1050Cys)
c.3131C>G (p.Ser1044Cys)
c.3074C>G (p.Ser1025Cys)
c.3008C>G (p.Ser1003Cys)
c.1574C>G (p.Ser525Cys)
c.926C>G (p.Ser309Cys)
c.713C>G (p.Ser238Cys)
c.2987C>G (p.Ser996Cys)
c.3122C>G (p.Ser1041Cys)
c.3128C>G (p.Ser1043Cys)
c.3044C>G (p.Ser1015Cys)
c.3029C>G (p.Ser1010Cys)
c.2972C>G (p.Ser991Cys)
c.2906C>G (p.Ser969Cys)
c.2267C>G (p.Ser756Cys)
c.2885C>G (p.Ser962Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813493C>TCA375794453EHMT1c.3143C>T (p.Ser1048Phe)
c.3050C>T (p.Ser1017Phe)
c.3183C>T (n.3183C>T)
c.1037C>T (p.Ser346Phe)
c.2000C>T (p.Ser667Phe)
n.3C>T
n.669C>T
c.3134C>T (p.Ser1045Phe)
c.3125C>T (p.Ser1042Phe)
c.3152C>T (p.Ser1051Phe)
c.3149C>T (p.Ser1050Phe)
c.3131C>T (p.Ser1044Phe)
c.3074C>T (p.Ser1025Phe)
c.3008C>T (p.Ser1003Phe)
c.1574C>T (p.Ser525Phe)
c.926C>T (p.Ser309Phe)
c.713C>T (p.Ser238Phe)
c.2987C>T (p.Ser996Phe)
c.3122C>T (p.Ser1041Phe)
c.3128C>T (p.Ser1043Phe)
c.3044C>T (p.Ser1015Phe)
c.3029C>T (p.Ser1010Phe)
c.2972C>T (p.Ser991Phe)
c.2906C>T (p.Ser969Phe)
c.2267C>T (p.Ser756Phe)
c.2885C>T (p.Ser962Phe)
9g.137813494C>ACA467878173EHMT1c.3144C>A (p.Ser1048=)
c.3051C>A (p.Ser1017=)
c.3184C>A (n.3184C>A)
c.1038C>A (p.Ser346=)
c.2001C>A (p.Ser667=)
n.4C>A
n.670C>A
c.3135C>A (p.Ser1045=)
c.3126C>A (p.Ser1042=)
c.3153C>A (p.Ser1051=)
c.3150C>A (p.Ser1050=)
c.3132C>A (p.Ser1044=)
c.3075C>A (p.Ser1025=)
c.3009C>A (p.Ser1003=)
c.1575C>A (p.Ser525=)
c.927C>A (p.Ser309=)
c.714C>A (p.Ser238=)
c.2988C>A (p.Ser996=)
c.3123C>A (p.Ser1041=)
c.3129C>A (p.Ser1043=)
c.3045C>A (p.Ser1015=)
c.3030C>A (p.Ser1010=)
c.2973C>A (p.Ser991=)
c.2907C>A (p.Ser969=)
c.2268C>A (p.Ser756=)
c.2886C>A (p.Ser962=)
9g.137813494C=CA1884685916EHMT1c.3144C= (p.Ser1048=)
c.3051C= (p.Ser1017=)
c.3184C= (n.3184C=)
c.1038C= (p.Ser346=)
c.2001C= (p.Ser667=)
n.4C=
n.670C=
c.3135C= (p.Ser1045=)
c.3126C= (p.Ser1042=)
c.3153C= (p.Ser1051=)
c.3150C= (p.Ser1050=)
c.3132C= (p.Ser1044=)
c.3075C= (p.Ser1025=)
c.3009C= (p.Ser1003=)
c.1575C= (p.Ser525=)
c.927C= (p.Ser309=)
c.714C= (p.Ser238=)
c.2988C= (p.Ser996=)
c.3123C= (p.Ser1041=)
c.3129C= (p.Ser1043=)
c.3045C= (p.Ser1015=)
c.3030C= (p.Ser1010=)
c.2973C= (p.Ser991=)
c.2907C= (p.Ser969=)
c.2268C= (p.Ser756=)
c.2886C= (p.Ser962=)
9g.137813494C>GCA467878174EHMT1c.3144C>G (p.Ser1048=)
c.3051C>G (p.Ser1017=)
c.3184C>G (n.3184C>G)
c.1038C>G (p.Ser346=)
c.2001C>G (p.Ser667=)
n.4C>G
n.670C>G
c.3135C>G (p.Ser1045=)
c.3126C>G (p.Ser1042=)
c.3153C>G (p.Ser1051=)
c.3150C>G (p.Ser1050=)
c.3132C>G (p.Ser1044=)
c.3075C>G (p.Ser1025=)
c.3009C>G (p.Ser1003=)
c.1575C>G (p.Ser525=)
c.927C>G (p.Ser309=)
c.714C>G (p.Ser238=)
c.2988C>G (p.Ser996=)
c.3123C>G (p.Ser1041=)
c.3129C>G (p.Ser1043=)
c.3045C>G (p.Ser1015=)
c.3030C>G (p.Ser1010=)
c.2973C>G (p.Ser991=)
c.2907C>G (p.Ser969=)
c.2268C>G (p.Ser756=)
c.2886C>G (p.Ser962=)
9g.137813494C>TCA201843824EHMT1c.3144C>T (p.Ser1048=)
c.3051C>T (p.Ser1017=)
c.3184C>T (n.3184C>T)
c.1038C>T (p.Ser346=)
c.2001C>T (p.Ser667=)
n.4C>T
n.670C>T
c.3135C>T (p.Ser1045=)
c.3126C>T (p.Ser1042=)
c.3153C>T (p.Ser1051=)
c.3150C>T (p.Ser1050=)
c.3132C>T (p.Ser1044=)
c.3075C>T (p.Ser1025=)
c.3009C>T (p.Ser1003=)
c.1575C>T (p.Ser525=)
c.927C>T (p.Ser309=)
c.714C>T (p.Ser238=)
c.2988C>T (p.Ser996=)
c.3123C>T (p.Ser1041=)
c.3129C>T (p.Ser1043=)
c.3045C>T (p.Ser1015=)
c.3030C>T (p.Ser1010=)
c.2973C>T (p.Ser991=)
c.2907C>T (p.Ser969=)
c.2268C>T (p.Ser756=)
c.2886C>T (p.Ser962=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813495C>ACA375794458EHMT1c.3145C>A (p.Pro1049Thr)
c.3052C>A (p.Pro1018Thr)
c.3185C>A (n.3185C>A)
c.1039C>A (p.Pro347Thr)
c.2002C>A (p.Pro668Thr)
n.5C>A
n.671C>A
c.3136C>A (p.Pro1046Thr)
c.3127C>A (p.Pro1043Thr)
c.3154C>A (p.Pro1052Thr)
c.3151C>A (p.Pro1051Thr)
c.3133C>A (p.Pro1045Thr)
c.3076C>A (p.Pro1026Thr)
c.3010C>A (p.Pro1004Thr)
c.1576C>A (p.Pro526Thr)
c.928C>A (p.Pro310Thr)
c.715C>A (p.Pro239Thr)
c.2989C>A (p.Pro997Thr)
c.3124C>A (p.Pro1042Thr)
c.3130C>A (p.Pro1044Thr)
c.3046C>A (p.Pro1016Thr)
c.3031C>A (p.Pro1011Thr)
c.2974C>A (p.Pro992Thr)
c.2908C>A (p.Pro970Thr)
c.2269C>A (p.Pro757Thr)
c.2887C>A (p.Pro963Thr)
9g.137813495C>GCA375794462EHMT1c.3145C>G (p.Pro1049Ala)
c.3052C>G (p.Pro1018Ala)
c.3185C>G (n.3185C>G)
c.1039C>G (p.Pro347Ala)
c.2002C>G (p.Pro668Ala)
n.5C>G
n.671C>G
c.3136C>G (p.Pro1046Ala)
c.3127C>G (p.Pro1043Ala)
c.3154C>G (p.Pro1052Ala)
c.3151C>G (p.Pro1051Ala)
c.3133C>G (p.Pro1045Ala)
c.3076C>G (p.Pro1026Ala)
c.3010C>G (p.Pro1004Ala)
c.1576C>G (p.Pro526Ala)
c.928C>G (p.Pro310Ala)
c.715C>G (p.Pro239Ala)
c.2989C>G (p.Pro997Ala)
c.3124C>G (p.Pro1042Ala)
c.3130C>G (p.Pro1044Ala)
c.3046C>G (p.Pro1016Ala)
c.3031C>G (p.Pro1011Ala)
c.2974C>G (p.Pro992Ala)
c.2908C>G (p.Pro970Ala)
c.2269C>G (p.Pro757Ala)
c.2887C>G (p.Pro963Ala)
 gnomAD v4
9g.137813495C>TCA375794460EHMT1c.3145C>T (p.Pro1049Ser)
c.3052C>T (p.Pro1018Ser)
c.3185C>T (n.3185C>T)
c.1039C>T (p.Pro347Ser)
c.2002C>T (p.Pro668Ser)
n.5C>T
n.671C>T
c.3136C>T (p.Pro1046Ser)
c.3127C>T (p.Pro1043Ser)
c.3154C>T (p.Pro1052Ser)
c.3151C>T (p.Pro1051Ser)
c.3133C>T (p.Pro1045Ser)
c.3076C>T (p.Pro1026Ser)
c.3010C>T (p.Pro1004Ser)
c.1576C>T (p.Pro526Ser)
c.928C>T (p.Pro310Ser)
c.715C>T (p.Pro239Ser)
c.2989C>T (p.Pro997Ser)
c.3124C>T (p.Pro1042Ser)
c.3130C>T (p.Pro1044Ser)
c.3046C>T (p.Pro1016Ser)
c.3031C>T (p.Pro1011Ser)
c.2974C>T (p.Pro992Ser)
c.2908C>T (p.Pro970Ser)
c.2269C>T (p.Pro757Ser)
c.2887C>T (p.Pro963Ser)
 ClinVar
9g.137813496C>ACA375794465EHMT1c.3146C>A (p.Pro1049His)
c.3053C>A (p.Pro1018His)
c.3186C>A (n.3186C>A)
c.1040C>A (p.Pro347His)
c.2003C>A (p.Pro668His)
n.6C>A
n.672C>A
c.3137C>A (p.Pro1046His)
c.3128C>A (p.Pro1043His)
c.3155C>A (p.Pro1052His)
c.3152C>A (p.Pro1051His)
c.3134C>A (p.Pro1045His)
c.3077C>A (p.Pro1026His)
c.3011C>A (p.Pro1004His)
c.1577C>A (p.Pro526His)
c.929C>A (p.Pro310His)
c.716C>A (p.Pro239His)
c.2990C>A (p.Pro997His)
c.3125C>A (p.Pro1042His)
c.3131C>A (p.Pro1044His)
c.3047C>A (p.Pro1016His)
c.3032C>A (p.Pro1011His)
c.2975C>A (p.Pro992His)
c.2909C>A (p.Pro970His)
c.2270C>A (p.Pro757His)
c.2888C>A (p.Pro963His)
9g.137813496C>GCA375794468EHMT1c.3146C>G (p.Pro1049Arg)
c.3053C>G (p.Pro1018Arg)
c.3186C>G (n.3186C>G)
c.1040C>G (p.Pro347Arg)
c.2003C>G (p.Pro668Arg)
n.6C>G
n.672C>G
c.3137C>G (p.Pro1046Arg)
c.3128C>G (p.Pro1043Arg)
c.3155C>G (p.Pro1052Arg)
c.3152C>G (p.Pro1051Arg)
c.3134C>G (p.Pro1045Arg)
c.3077C>G (p.Pro1026Arg)
c.3011C>G (p.Pro1004Arg)
c.1577C>G (p.Pro526Arg)
c.929C>G (p.Pro310Arg)
c.716C>G (p.Pro239Arg)
c.2990C>G (p.Pro997Arg)
c.3125C>G (p.Pro1042Arg)
c.3131C>G (p.Pro1044Arg)
c.3047C>G (p.Pro1016Arg)
c.3032C>G (p.Pro1011Arg)
c.2975C>G (p.Pro992Arg)
c.2909C>G (p.Pro970Arg)
c.2270C>G (p.Pro757Arg)
c.2888C>G (p.Pro963Arg)
9g.137813496C>TCA375794469EHMT1c.3146C>T (p.Pro1049Leu)
c.3053C>T (p.Pro1018Leu)
c.3186C>T (n.3186C>T)
c.1040C>T (p.Pro347Leu)
c.2003C>T (p.Pro668Leu)
n.6C>T
n.672C>T
c.3137C>T (p.Pro1046Leu)
c.3128C>T (p.Pro1043Leu)
c.3155C>T (p.Pro1052Leu)
c.3152C>T (p.Pro1051Leu)
c.3134C>T (p.Pro1045Leu)
c.3077C>T (p.Pro1026Leu)
c.3011C>T (p.Pro1004Leu)
c.1577C>T (p.Pro526Leu)
c.929C>T (p.Pro310Leu)
c.716C>T (p.Pro239Leu)
c.2990C>T (p.Pro997Leu)
c.3125C>T (p.Pro1042Leu)
c.3131C>T (p.Pro1044Leu)
c.3047C>T (p.Pro1016Leu)
c.3032C>T (p.Pro1011Leu)
c.2975C>T (p.Pro992Leu)
c.2909C>T (p.Pro970Leu)
c.2270C>T (p.Pro757Leu)
c.2888C>T (p.Pro963Leu)
9g.137813497C>ACA467878175EHMT1c.3147C>A (p.Pro1049=)
c.3054C>A (p.Pro1018=)
c.3187C>A (n.3187C>A)
c.1041C>A (p.Pro347=)
c.2004C>A (p.Pro668=)
n.7C>A
n.673C>A
c.3138C>A (p.Pro1046=)
c.3129C>A (p.Pro1043=)
c.3156C>A (p.Pro1052=)
c.3153C>A (p.Pro1051=)
c.3135C>A (p.Pro1045=)
c.3078C>A (p.Pro1026=)
c.3012C>A (p.Pro1004=)
c.1578C>A (p.Pro526=)
c.930C>A (p.Pro310=)
c.717C>A (p.Pro239=)
c.2991C>A (p.Pro997=)
c.3126C>A (p.Pro1042=)
c.3132C>A (p.Pro1044=)
c.3048C>A (p.Pro1016=)
c.3033C>A (p.Pro1011=)
c.2976C>A (p.Pro992=)
c.2910C>A (p.Pro970=)
c.2271C>A (p.Pro757=)
c.2889C>A (p.Pro963=)
9g.137813497C>GCA467878176EHMT1c.3147C>G (p.Pro1049=)
c.3054C>G (p.Pro1018=)
c.3187C>G (n.3187C>G)
c.1041C>G (p.Pro347=)
c.2004C>G (p.Pro668=)
n.7C>G
n.673C>G
c.3138C>G (p.Pro1046=)
c.3129C>G (p.Pro1043=)
c.3156C>G (p.Pro1052=)
c.3153C>G (p.Pro1051=)
c.3135C>G (p.Pro1045=)
c.3078C>G (p.Pro1026=)
c.3012C>G (p.Pro1004=)
c.1578C>G (p.Pro526=)
c.930C>G (p.Pro310=)
c.717C>G (p.Pro239=)
c.2991C>G (p.Pro997=)
c.3126C>G (p.Pro1042=)
c.3132C>G (p.Pro1044=)
c.3048C>G (p.Pro1016=)
c.3033C>G (p.Pro1011=)
c.2976C>G (p.Pro992=)
c.2910C>G (p.Pro970=)
c.2271C>G (p.Pro757=)
c.2889C>G (p.Pro963=)
 gnomAD v4
9g.137813497C>TCA467878177EHMT1c.3147C>T (p.Pro1049=)
c.3054C>T (p.Pro1018=)
c.3187C>T (n.3187C>T)
c.1041C>T (p.Pro347=)
c.2004C>T (p.Pro668=)
n.7C>T
n.673C>T
c.3138C>T (p.Pro1046=)
c.3129C>T (p.Pro1043=)
c.3156C>T (p.Pro1052=)
c.3153C>T (p.Pro1051=)
c.3135C>T (p.Pro1045=)
c.3078C>T (p.Pro1026=)
c.3012C>T (p.Pro1004=)
c.1578C>T (p.Pro526=)
c.930C>T (p.Pro310=)
c.717C>T (p.Pro239=)
c.2991C>T (p.Pro997=)
c.3126C>T (p.Pro1042=)
c.3132C>T (p.Pro1044=)
c.3048C>T (p.Pro1016=)
c.3033C>T (p.Pro1011=)
c.2976C>T (p.Pro992=)
c.2910C>T (p.Pro970=)
c.2271C>T (p.Pro757=)
c.2889C>T (p.Pro963=)
9g.137813498A=CA1884685917EHMT1c.3148A= (p.Met1050=)
c.3055A= (p.Met1019=)
c.3188A= (n.3188A=)
c.1042A= (p.Met348=)
c.2005A= (p.Met669=)
n.8A=
n.674A=
c.3139A= (p.Met1047=)
c.3130A= (p.Met1044=)
c.3157A= (p.Met1053=)
c.3154A= (p.Met1052=)
c.3136A= (p.Met1046=)
c.3079A= (p.Met1027=)
c.3013A= (p.Met1005=)
c.1579A= (p.Met527=)
c.931A= (p.Met311=)
c.718A= (p.Met240=)
c.2992A= (p.Met998=)
c.3127A= (p.Met1043=)
c.3133A= (p.Met1045=)
c.3049A= (p.Met1017=)
c.3034A= (p.Met1012=)
c.2977A= (p.Met993=)
c.2911A= (p.Met971=)
c.2272A= (p.Met758=)
c.2890A= (p.Met964=)
9g.137813498A>CCA375794471EHMT1c.3148A>C (p.Met1050Leu)
c.3055A>C (p.Met1019Leu)
c.3188A>C (n.3188A>C)
c.1042A>C (p.Met348Leu)
c.2005A>C (p.Met669Leu)
n.8A>C
n.674A>C
c.3139A>C (p.Met1047Leu)
c.3130A>C (p.Met1044Leu)
c.3157A>C (p.Met1053Leu)
c.3154A>C (p.Met1052Leu)
c.3136A>C (p.Met1046Leu)
c.3079A>C (p.Met1027Leu)
c.3013A>C (p.Met1005Leu)
c.1579A>C (p.Met527Leu)
c.931A>C (p.Met311Leu)
c.718A>C (p.Met240Leu)
c.2992A>C (p.Met998Leu)
c.3127A>C (p.Met1043Leu)
c.3133A>C (p.Met1045Leu)
c.3049A>C (p.Met1017Leu)
c.3034A>C (p.Met1012Leu)
c.2977A>C (p.Met993Leu)
c.2911A>C (p.Met971Leu)
c.2272A>C (p.Met758Leu)
c.2890A>C (p.Met964Leu)
9g.137813498A>GCA375794474EHMT1c.3148A>G (p.Met1050Val)
c.3055A>G (p.Met1019Val)
c.3188A>G (n.3188A>G)
c.1042A>G (p.Met348Val)
c.2005A>G (p.Met669Val)
n.8A>G
n.674A>G
c.3139A>G (p.Met1047Val)
c.3130A>G (p.Met1044Val)
c.3157A>G (p.Met1053Val)
c.3154A>G (p.Met1052Val)
c.3136A>G (p.Met1046Val)
c.3079A>G (p.Met1027Val)
c.3013A>G (p.Met1005Val)
c.1579A>G (p.Met527Val)
c.931A>G (p.Met311Val)
c.718A>G (p.Met240Val)
c.2992A>G (p.Met998Val)
c.3127A>G (p.Met1043Val)
c.3133A>G (p.Met1045Val)
c.3049A>G (p.Met1017Val)
c.3034A>G (p.Met1012Val)
c.2977A>G (p.Met993Val)
c.2911A>G (p.Met971Val)
c.2272A>G (p.Met758Val)
c.2890A>G (p.Met964Val)
 ClinVar dbSNP gnomAD v4
9g.137813498A>TCA375794475EHMT1c.3148A>T (p.Met1050Leu)
c.3055A>T (p.Met1019Leu)
c.3188A>T (n.3188A>T)
c.1042A>T (p.Met348Leu)
c.2005A>T (p.Met669Leu)
n.8A>T
n.674A>T
c.3139A>T (p.Met1047Leu)
c.3130A>T (p.Met1044Leu)
c.3157A>T (p.Met1053Leu)
c.3154A>T (p.Met1052Leu)
c.3136A>T (p.Met1046Leu)
c.3079A>T (p.Met1027Leu)
c.3013A>T (p.Met1005Leu)
c.1579A>T (p.Met527Leu)
c.931A>T (p.Met311Leu)
c.718A>T (p.Met240Leu)
c.2992A>T (p.Met998Leu)
c.3127A>T (p.Met1043Leu)
c.3133A>T (p.Met1045Leu)
c.3049A>T (p.Met1017Leu)
c.3034A>T (p.Met1012Leu)
c.2977A>T (p.Met993Leu)
c.2911A>T (p.Met971Leu)
c.2272A>T (p.Met758Leu)
c.2890A>T (p.Met964Leu)
9g.137813499T>ACA375794477EHMT1c.3149T>A (p.Met1050Lys)
c.3056T>A (p.Met1019Lys)
c.3189T>A (n.3189T>A)
c.1043T>A (p.Met348Lys)
c.2006T>A (p.Met669Lys)
n.9T>A
n.675T>A
c.3140T>A (p.Met1047Lys)
c.3131T>A (p.Met1044Lys)
c.3158T>A (p.Met1053Lys)
c.3155T>A (p.Met1052Lys)
c.3137T>A (p.Met1046Lys)
c.3080T>A (p.Met1027Lys)
c.3014T>A (p.Met1005Lys)
c.1580T>A (p.Met527Lys)
c.932T>A (p.Met311Lys)
c.719T>A (p.Met240Lys)
c.2993T>A (p.Met998Lys)
c.3128T>A (p.Met1043Lys)
c.3134T>A (p.Met1045Lys)
c.3050T>A (p.Met1017Lys)
c.3035T>A (p.Met1012Lys)
c.2978T>A (p.Met993Lys)
c.2912T>A (p.Met971Lys)
c.2273T>A (p.Met758Lys)
c.2891T>A (p.Met964Lys)
9g.137813499T>CCA375794478EHMT1c.3149T>C (p.Met1050Thr)
c.3056T>C (p.Met1019Thr)
c.3189T>C (n.3189T>C)
c.1043T>C (p.Met348Thr)
c.2006T>C (p.Met669Thr)
n.9T>C
n.675T>C
c.3140T>C (p.Met1047Thr)
c.3131T>C (p.Met1044Thr)
c.3158T>C (p.Met1053Thr)
c.3155T>C (p.Met1052Thr)
c.3137T>C (p.Met1046Thr)
c.3080T>C (p.Met1027Thr)
c.3014T>C (p.Met1005Thr)
c.1580T>C (p.Met527Thr)
c.932T>C (p.Met311Thr)
c.719T>C (p.Met240Thr)
c.2993T>C (p.Met998Thr)
c.3128T>C (p.Met1043Thr)
c.3134T>C (p.Met1045Thr)
c.3050T>C (p.Met1017Thr)
c.3035T>C (p.Met1012Thr)
c.2978T>C (p.Met993Thr)
c.2912T>C (p.Met971Thr)
c.2273T>C (p.Met758Thr)
c.2891T>C (p.Met964Thr)
9g.137813499T>GCA375794479EHMT1c.3149T>G (p.Met1050Arg)
c.3056T>G (p.Met1019Arg)
c.3189T>G (n.3189T>G)
c.1043T>G (p.Met348Arg)
c.2006T>G (p.Met669Arg)
n.9T>G
n.675T>G
c.3140T>G (p.Met1047Arg)
c.3131T>G (p.Met1044Arg)
c.3158T>G (p.Met1053Arg)
c.3155T>G (p.Met1052Arg)
c.3137T>G (p.Met1046Arg)
c.3080T>G (p.Met1027Arg)
c.3014T>G (p.Met1005Arg)
c.1580T>G (p.Met527Arg)
c.932T>G (p.Met311Arg)
c.719T>G (p.Met240Arg)
c.2993T>G (p.Met998Arg)
c.3128T>G (p.Met1043Arg)
c.3134T>G (p.Met1045Arg)
c.3050T>G (p.Met1017Arg)
c.3035T>G (p.Met1012Arg)
c.2978T>G (p.Met993Arg)
c.2912T>G (p.Met971Arg)
c.2273T>G (p.Met758Arg)
c.2891T>G (p.Met964Arg)
9g.137813500G>ACA375794485EHMT1c.3150G>A (p.Met1050Ile)
c.3057G>A (p.Met1019Ile)
c.3190G>A (n.3190G>A)
c.1044G>A (p.Met348Ile)
c.2007G>A (p.Met669Ile)
n.10G>A
n.676G>A
c.3141G>A (p.Met1047Ile)
c.3132G>A (p.Met1044Ile)
c.3159G>A (p.Met1053Ile)
c.3156G>A (p.Met1052Ile)
c.3138G>A (p.Met1046Ile)
c.3081G>A (p.Met1027Ile)
c.3015G>A (p.Met1005Ile)
c.1581G>A (p.Met527Ile)
c.933G>A (p.Met311Ile)
c.720G>A (p.Met240Ile)
c.2994G>A (p.Met998Ile)
c.3129G>A (p.Met1043Ile)
c.3135G>A (p.Met1045Ile)
c.3051G>A (p.Met1017Ile)
c.3036G>A (p.Met1012Ile)
c.2979G>A (p.Met993Ile)
c.2913G>A (p.Met971Ile)
c.2274G>A (p.Met758Ile)
c.2892G>A (p.Met964Ile)
9g.137813500G>CCA375794482EHMT1c.3150G>C (p.Met1050Ile)
c.3057G>C (p.Met1019Ile)
c.3190G>C (n.3190G>C)
c.1044G>C (p.Met348Ile)
c.2007G>C (p.Met669Ile)
n.10G>C
n.676G>C
c.3141G>C (p.Met1047Ile)
c.3132G>C (p.Met1044Ile)
c.3159G>C (p.Met1053Ile)
c.3156G>C (p.Met1052Ile)
c.3138G>C (p.Met1046Ile)
c.3081G>C (p.Met1027Ile)
c.3015G>C (p.Met1005Ile)
c.1581G>C (p.Met527Ile)
c.933G>C (p.Met311Ile)
c.720G>C (p.Met240Ile)
c.2994G>C (p.Met998Ile)
c.3129G>C (p.Met1043Ile)
c.3135G>C (p.Met1045Ile)
c.3051G>C (p.Met1017Ile)
c.3036G>C (p.Met1012Ile)
c.2979G>C (p.Met993Ile)
c.2913G>C (p.Met971Ile)
c.2274G>C (p.Met758Ile)
c.2892G>C (p.Met964Ile)
9g.137813500G>TCA375794480EHMT1c.3150G>T (p.Met1050Ile)
c.3057G>T (p.Met1019Ile)
c.3190G>T (n.3190G>T)
c.1044G>T (p.Met348Ile)
c.2007G>T (p.Met669Ile)
n.10G>T
n.676G>T
c.3141G>T (p.Met1047Ile)
c.3132G>T (p.Met1044Ile)
c.3159G>T (p.Met1053Ile)
c.3156G>T (p.Met1052Ile)
c.3138G>T (p.Met1046Ile)
c.3081G>T (p.Met1027Ile)
c.3015G>T (p.Met1005Ile)
c.1581G>T (p.Met527Ile)
c.933G>T (p.Met311Ile)
c.720G>T (p.Met240Ile)
c.2994G>T (p.Met998Ile)
c.3129G>T (p.Met1043Ile)
c.3135G>T (p.Met1045Ile)
c.3051G>T (p.Met1017Ile)
c.3036G>T (p.Met1012Ile)
c.2979G>T (p.Met993Ile)
c.2913G>T (p.Met971Ile)
c.2274G>T (p.Met758Ile)
c.2892G>T (p.Met964Ile)
9g.137813501A>CCA375794487EHMT1c.3151A>C (p.Asn1051His)
c.3058A>C (p.Asn1020His)
c.3191A>C (n.3191A>C)
c.1045A>C (p.Asn349His)
c.2008A>C (p.Asn670His)
n.11A>C
n.677A>C
c.3142A>C (p.Asn1048His)
c.3133A>C (p.Asn1045His)
c.3160A>C (p.Asn1054His)
c.3157A>C (p.Asn1053His)
c.3139A>C (p.Asn1047His)
c.3082A>C (p.Asn1028His)
c.3016A>C (p.Asn1006His)
c.1582A>C (p.Asn528His)
c.934A>C (p.Asn312His)
c.721A>C (p.Asn241His)
c.2995A>C (p.Asn999His)
c.3130A>C (p.Asn1044His)
c.3136A>C (p.Asn1046His)
c.3052A>C (p.Asn1018His)
c.3037A>C (p.Asn1013His)
c.2980A>C (p.Asn994His)
c.2914A>C (p.Asn972His)
c.2275A>C (p.Asn759His)
c.2893A>C (p.Asn965His)
9g.137813501A>GCA375794493EHMT1c.3151A>G (p.Asn1051Asp)
c.3058A>G (p.Asn1020Asp)
c.3191A>G (n.3191A>G)
c.1045A>G (p.Asn349Asp)
c.2008A>G (p.Asn670Asp)
n.11A>G
n.677A>G
c.3142A>G (p.Asn1048Asp)
c.3133A>G (p.Asn1045Asp)
c.3160A>G (p.Asn1054Asp)
c.3157A>G (p.Asn1053Asp)
c.3139A>G (p.Asn1047Asp)
c.3082A>G (p.Asn1028Asp)
c.3016A>G (p.Asn1006Asp)
c.1582A>G (p.Asn528Asp)
c.934A>G (p.Asn312Asp)
c.721A>G (p.Asn241Asp)
c.2995A>G (p.Asn999Asp)
c.3130A>G (p.Asn1044Asp)
c.3136A>G (p.Asn1046Asp)
c.3052A>G (p.Asn1018Asp)
c.3037A>G (p.Asn1013Asp)
c.2980A>G (p.Asn994Asp)
c.2914A>G (p.Asn972Asp)
c.2275A>G (p.Asn759Asp)
c.2893A>G (p.Asn965Asp)
9g.137813501A>TCA375794490EHMT1c.3151A>T (p.Asn1051Tyr)
c.3058A>T (p.Asn1020Tyr)
c.3191A>T (n.3191A>T)
c.1045A>T (p.Asn349Tyr)
c.2008A>T (p.Asn670Tyr)
n.11A>T
n.677A>T
c.3142A>T (p.Asn1048Tyr)
c.3133A>T (p.Asn1045Tyr)
c.3160A>T (p.Asn1054Tyr)
c.3157A>T (p.Asn1053Tyr)
c.3139A>T (p.Asn1047Tyr)
c.3082A>T (p.Asn1028Tyr)
c.3016A>T (p.Asn1006Tyr)
c.1582A>T (p.Asn528Tyr)
c.934A>T (p.Asn312Tyr)
c.721A>T (p.Asn241Tyr)
c.2995A>T (p.Asn999Tyr)
c.3130A>T (p.Asn1044Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3052A>T (p.Asn1018Tyr)
c.3037A>T (p.Asn1013Tyr)
c.2980A>T (p.Asn994Tyr)
c.2914A>T (p.Asn972Tyr)
c.2275A>T (p.Asn759Tyr)
c.2893A>T (p.Asn965Tyr)
9g.137813502A>CCA375794494EHMT1c.3152A>C (p.Asn1051Thr)
c.3059A>C (p.Asn1020Thr)
c.3192A>C (n.3192A>C)
c.1046A>C (p.Asn349Thr)
c.2009A>C (p.Asn670Thr)
n.12A>C
n.678A>C
c.3143A>C (p.Asn1048Thr)
c.3134A>C (p.Asn1045Thr)
c.3161A>C (p.Asn1054Thr)
c.3158A>C (p.Asn1053Thr)
c.3140A>C (p.Asn1047Thr)
c.3083A>C (p.Asn1028Thr)
c.3017A>C (p.Asn1006Thr)
c.1583A>C (p.Asn528Thr)
c.935A>C (p.Asn312Thr)
c.722A>C (p.Asn241Thr)
c.2996A>C (p.Asn999Thr)
c.3131A>C (p.Asn1044Thr)
c.3137A>C (p.Asn1046Thr)
c.3053A>C (p.Asn1018Thr)
c.3038A>C (p.Asn1013Thr)
c.2981A>C (p.Asn994Thr)
c.2915A>C (p.Asn972Thr)
c.2276A>C (p.Asn759Thr)
c.2894A>C (p.Asn965Thr)
9g.137813502A>GCA375794501EHMT1c.3152A>G (p.Asn1051Ser)
c.3059A>G (p.Asn1020Ser)
c.3192A>G (n.3192A>G)
c.1046A>G (p.Asn349Ser)
c.2009A>G (p.Asn670Ser)
n.12A>G
n.678A>G
c.3143A>G (p.Asn1048Ser)
c.3134A>G (p.Asn1045Ser)
c.3161A>G (p.Asn1054Ser)
c.3158A>G (p.Asn1053Ser)
c.3140A>G (p.Asn1047Ser)
c.3083A>G (p.Asn1028Ser)
c.3017A>G (p.Asn1006Ser)
c.1583A>G (p.Asn528Ser)
c.935A>G (p.Asn312Ser)
c.722A>G (p.Asn241Ser)
c.2996A>G (p.Asn999Ser)
c.3131A>G (p.Asn1044Ser)
c.3137A>G (p.Asn1046Ser)
c.3053A>G (p.Asn1018Ser)
c.3038A>G (p.Asn1013Ser)
c.2981A>G (p.Asn994Ser)
c.2915A>G (p.Asn972Ser)
c.2276A>G (p.Asn759Ser)
c.2894A>G (p.Asn965Ser)
9g.137813502A>TCA375794503EHMT1c.3152A>T (p.Asn1051Ile)
c.3059A>T (p.Asn1020Ile)
c.3192A>T (n.3192A>T)
c.1046A>T (p.Asn349Ile)
c.2009A>T (p.Asn670Ile)
n.12A>T
n.678A>T
c.3143A>T (p.Asn1048Ile)
c.3134A>T (p.Asn1045Ile)
c.3161A>T (p.Asn1054Ile)
c.3158A>T (p.Asn1053Ile)
c.3140A>T (p.Asn1047Ile)
c.3083A>T (p.Asn1028Ile)
c.3017A>T (p.Asn1006Ile)
c.1583A>T (p.Asn528Ile)
c.935A>T (p.Asn312Ile)
c.722A>T (p.Asn241Ile)
c.2996A>T (p.Asn999Ile)
c.3131A>T (p.Asn1044Ile)
c.3137A>T (p.Asn1046Ile)
c.3053A>T (p.Asn1018Ile)
c.3038A>T (p.Asn1013Ile)
c.2981A>T (p.Asn994Ile)
c.2915A>T (p.Asn972Ile)
c.2276A>T (p.Asn759Ile)
c.2894A>T (p.Asn965Ile)
9g.137813503C>ACA375794506EHMT1c.3153C>A (p.Asn1051Lys)
c.3060C>A (p.Asn1020Lys)
c.3193C>A (n.3193C>A)
c.1047C>A (p.Asn349Lys)
c.2010C>A (p.Asn670Lys)
n.13C>A
n.679C>A
c.3144C>A (p.Asn1048Lys)
c.3135C>A (p.Asn1045Lys)
c.3162C>A (p.Asn1054Lys)
c.3159C>A (p.Asn1053Lys)
c.3141C>A (p.Asn1047Lys)
c.3084C>A (p.Asn1028Lys)
c.3018C>A (p.Asn1006Lys)
c.1584C>A (p.Asn528Lys)
c.936C>A (p.Asn312Lys)
c.723C>A (p.Asn241Lys)
c.2997C>A (p.Asn999Lys)
c.3132C>A (p.Asn1044Lys)
c.3138C>A (p.Asn1046Lys)
c.3054C>A (p.Asn1018Lys)
c.3039C>A (p.Asn1013Lys)
c.2982C>A (p.Asn994Lys)
c.2916C>A (p.Asn972Lys)
c.2277C>A (p.Asn759Lys)
c.2895C>A (p.Asn965Lys)
9g.137813503C=CA1884685918EHMT1c.3153C= (p.Asn1051=)
c.3060C= (p.Asn1020=)
c.3193C= (n.3193C=)
c.1047C= (p.Asn349=)
c.2010C= (p.Asn670=)
n.13C=
n.679C=
c.3144C= (p.Asn1048=)
c.3135C= (p.Asn1045=)
c.3162C= (p.Asn1054=)
c.3159C= (p.Asn1053=)
c.3141C= (p.Asn1047=)
c.3084C= (p.Asn1028=)
c.3018C= (p.Asn1006=)
c.1584C= (p.Asn528=)
c.936C= (p.Asn312=)
c.723C= (p.Asn241=)
c.2997C= (p.Asn999=)
c.3132C= (p.Asn1044=)
c.3138C= (p.Asn1046=)
c.3054C= (p.Asn1018=)
c.3039C= (p.Asn1013=)
c.2982C= (p.Asn994=)
c.2916C= (p.Asn972=)
c.2277C= (p.Asn759=)
c.2895C= (p.Asn965=)
9g.137813503C>GCA375794509EHMT1c.3153C>G (p.Asn1051Lys)
c.3060C>G (p.Asn1020Lys)
c.3193C>G (n.3193C>G)
c.1047C>G (p.Asn349Lys)
c.2010C>G (p.Asn670Lys)
n.13C>G
n.679C>G
c.3144C>G (p.Asn1048Lys)
c.3135C>G (p.Asn1045Lys)
c.3162C>G (p.Asn1054Lys)
c.3159C>G (p.Asn1053Lys)
c.3141C>G (p.Asn1047Lys)
c.3084C>G (p.Asn1028Lys)
c.3018C>G (p.Asn1006Lys)
c.1584C>G (p.Asn528Lys)
c.936C>G (p.Asn312Lys)
c.723C>G (p.Asn241Lys)
c.2997C>G (p.Asn999Lys)
c.3132C>G (p.Asn1044Lys)
c.3138C>G (p.Asn1046Lys)
c.3054C>G (p.Asn1018Lys)
c.3039C>G (p.Asn1013Lys)
c.2982C>G (p.Asn994Lys)
c.2916C>G (p.Asn972Lys)
c.2277C>G (p.Asn759Lys)
c.2895C>G (p.Asn965Lys)
9g.137813503C>TCA467878179EHMT1c.3153C>T (p.Asn1051=)
c.3060C>T (p.Asn1020=)
c.3193C>T (n.3193C>T)
c.1047C>T (p.Asn349=)
c.2010C>T (p.Asn670=)
n.13C>T
n.679C>T
c.3144C>T (p.Asn1048=)
c.3135C>T (p.Asn1045=)
c.3162C>T (p.Asn1054=)
c.3159C>T (p.Asn1053=)
c.3141C>T (p.Asn1047=)
c.3084C>T (p.Asn1028=)
c.3018C>T (p.Asn1006=)
c.1584C>T (p.Asn528=)
c.936C>T (p.Asn312=)
c.723C>T (p.Asn241=)
c.2997C>T (p.Asn999=)
c.3132C>T (p.Asn1044=)
c.3138C>T (p.Asn1046=)
c.3054C>T (p.Asn1018=)
c.3039C>T (p.Asn1013=)
c.2982C>T (p.Asn994=)
c.2916C>T (p.Asn972=)
c.2277C>T (p.Asn759=)
c.2895C>T (p.Asn965=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813504A=CA1884685919EHMT1c.3154A= (p.Ile1052=)
c.3061A= (p.Ile1021=)
c.3194A= (n.3194A=)
c.1048A= (p.Ile350=)
c.2011A= (p.Ile671=)
n.14A=
n.680A=
c.3145A= (p.Ile1049=)
c.3136A= (p.Ile1046=)
c.3163A= (p.Ile1055=)
c.3160A= (p.Ile1054=)
c.3142A= (p.Ile1048=)
c.3085A= (p.Ile1029=)
c.3019A= (p.Ile1007=)
c.1585A= (p.Ile529=)
c.937A= (p.Ile313=)
c.724A= (p.Ile242=)
c.2998A= (p.Ile1000=)
c.3133A= (p.Ile1045=)
c.3139A= (p.Ile1047=)
c.3055A= (p.Ile1019=)
c.3040A= (p.Ile1014=)
c.2983A= (p.Ile995=)
c.2917A= (p.Ile973=)
c.2278A= (p.Ile760=)
c.2896A= (p.Ile966=)
9g.137813504A>CCA375794514EHMT1c.3154A>C (p.Ile1052Leu)
c.3061A>C (p.Ile1021Leu)
c.3194A>C (n.3194A>C)
c.1048A>C (p.Ile350Leu)
c.2011A>C (p.Ile671Leu)
n.14A>C
n.680A>C
c.3145A>C (p.Ile1049Leu)
c.3136A>C (p.Ile1046Leu)
c.3163A>C (p.Ile1055Leu)
c.3160A>C (p.Ile1054Leu)
c.3142A>C (p.Ile1048Leu)
c.3085A>C (p.Ile1029Leu)
c.3019A>C (p.Ile1007Leu)
c.1585A>C (p.Ile529Leu)
c.937A>C (p.Ile313Leu)
c.724A>C (p.Ile242Leu)
c.2998A>C (p.Ile1000Leu)
c.3133A>C (p.Ile1045Leu)
c.3139A>C (p.Ile1047Leu)
c.3055A>C (p.Ile1019Leu)
c.3040A>C (p.Ile1014Leu)
c.2983A>C (p.Ile995Leu)
c.2917A>C (p.Ile973Leu)
c.2278A>C (p.Ile760Leu)
c.2896A>C (p.Ile966Leu)
9g.137813504A>GCA5375177EHMT1c.3154A>G (p.Ile1052Val)
c.3061A>G (p.Ile1021Val)
c.3194A>G (n.3194A>G)
c.1048A>G (p.Ile350Val)
c.2011A>G (p.Ile671Val)
n.14A>G
n.680A>G
c.3145A>G (p.Ile1049Val)
c.3136A>G (p.Ile1046Val)
c.3163A>G (p.Ile1055Val)
c.3160A>G (p.Ile1054Val)
c.3142A>G (p.Ile1048Val)
c.3085A>G (p.Ile1029Val)
c.3019A>G (p.Ile1007Val)
c.1585A>G (p.Ile529Val)
c.937A>G (p.Ile313Val)
c.724A>G (p.Ile242Val)
c.2998A>G (p.Ile1000Val)
c.3133A>G (p.Ile1045Val)
c.3139A>G (p.Ile1047Val)
c.3055A>G (p.Ile1019Val)
c.3040A>G (p.Ile1014Val)
c.2983A>G (p.Ile995Val)
c.2917A>G (p.Ile973Val)
c.2278A>G (p.Ile760Val)
c.2896A>G (p.Ile966Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813504A>TCA375794518EHMT1c.3154A>T (p.Ile1052Phe)
c.3061A>T (p.Ile1021Phe)
c.3194A>T (n.3194A>T)
c.1048A>T (p.Ile350Phe)
c.2011A>T (p.Ile671Phe)
n.14A>T
n.680A>T
c.3145A>T (p.Ile1049Phe)
c.3136A>T (p.Ile1046Phe)
c.3163A>T (p.Ile1055Phe)
c.3160A>T (p.Ile1054Phe)
c.3142A>T (p.Ile1048Phe)
c.3085A>T (p.Ile1029Phe)
c.3019A>T (p.Ile1007Phe)
c.1585A>T (p.Ile529Phe)
c.937A>T (p.Ile313Phe)
c.724A>T (p.Ile242Phe)
c.2998A>T (p.Ile1000Phe)
c.3133A>T (p.Ile1045Phe)
c.3139A>T (p.Ile1047Phe)
c.3055A>T (p.Ile1019Phe)
c.3040A>T (p.Ile1014Phe)
c.2983A>T (p.Ile995Phe)
c.2917A>T (p.Ile973Phe)
c.2278A>T (p.Ile760Phe)
c.2896A>T (p.Ile966Phe)
9g.137813505T>ACA375794522EHMT1c.3155T>A (p.Ile1052Asn)
c.3062T>A (p.Ile1021Asn)
c.3195T>A (n.3195T>A)
c.1049T>A (p.Ile350Asn)
c.2012T>A (p.Ile671Asn)
n.15T>A
n.681T>A
c.3146T>A (p.Ile1049Asn)
c.3137T>A (p.Ile1046Asn)
c.3164T>A (p.Ile1055Asn)
c.3161T>A (p.Ile1054Asn)
c.3143T>A (p.Ile1048Asn)
c.3086T>A (p.Ile1029Asn)
c.3020T>A (p.Ile1007Asn)
c.1586T>A (p.Ile529Asn)
c.938T>A (p.Ile313Asn)
c.725T>A (p.Ile242Asn)
c.2999T>A (p.Ile1000Asn)
c.3134T>A (p.Ile1045Asn)
c.3140T>A (p.Ile1047Asn)
c.3056T>A (p.Ile1019Asn)
c.3041T>A (p.Ile1014Asn)
c.2984T>A (p.Ile995Asn)
c.2918T>A (p.Ile973Asn)
c.2279T>A (p.Ile760Asn)
c.2897T>A (p.Ile966Asn)
9g.137813505T>CCA375794525EHMT1c.3155T>C (p.Ile1052Thr)
c.3062T>C (p.Ile1021Thr)
c.3195T>C (n.3195T>C)
c.1049T>C (p.Ile350Thr)
c.2012T>C (p.Ile671Thr)
n.15T>C
n.681T>C
c.3146T>C (p.Ile1049Thr)
c.3137T>C (p.Ile1046Thr)
c.3164T>C (p.Ile1055Thr)
c.3161T>C (p.Ile1054Thr)
c.3143T>C (p.Ile1048Thr)
c.3086T>C (p.Ile1029Thr)
c.3020T>C (p.Ile1007Thr)
c.1586T>C (p.Ile529Thr)
c.938T>C (p.Ile313Thr)
c.725T>C (p.Ile242Thr)
c.2999T>C (p.Ile1000Thr)
c.3134T>C (p.Ile1045Thr)
c.3140T>C (p.Ile1047Thr)
c.3056T>C (p.Ile1019Thr)
c.3041T>C (p.Ile1014Thr)
c.2984T>C (p.Ile995Thr)
c.2918T>C (p.Ile973Thr)
c.2279T>C (p.Ile760Thr)
c.2897T>C (p.Ile966Thr)
9g.137813505T>GCA375794526EHMT1c.3155T>G (p.Ile1052Ser)
c.3062T>G (p.Ile1021Ser)
c.3195T>G (n.3195T>G)
c.1049T>G (p.Ile350Ser)
c.2012T>G (p.Ile671Ser)
n.15T>G
n.681T>G
c.3146T>G (p.Ile1049Ser)
c.3137T>G (p.Ile1046Ser)
c.3164T>G (p.Ile1055Ser)
c.3161T>G (p.Ile1054Ser)
c.3143T>G (p.Ile1048Ser)
c.3086T>G (p.Ile1029Ser)
c.3020T>G (p.Ile1007Ser)
c.1586T>G (p.Ile529Ser)
c.938T>G (p.Ile313Ser)
c.725T>G (p.Ile242Ser)
c.2999T>G (p.Ile1000Ser)
c.3134T>G (p.Ile1045Ser)
c.3140T>G (p.Ile1047Ser)
c.3056T>G (p.Ile1019Ser)
c.3041T>G (p.Ile1014Ser)
c.2984T>G (p.Ile995Ser)
c.2918T>G (p.Ile973Ser)
c.2279T>G (p.Ile760Ser)
c.2897T>G (p.Ile966Ser)
9g.137813506C>ACA467878180EHMT1c.3156C>A (p.Ile1052=)
c.3063C>A (p.Ile1021=)
c.3196C>A (n.3196C>A)
c.1050C>A (p.Ile350=)
c.2013C>A (p.Ile671=)
n.16C>A
n.682C>A
c.3147C>A (p.Ile1049=)
c.3138C>A (p.Ile1046=)
c.3165C>A (p.Ile1055=)
c.3162C>A (p.Ile1054=)
c.3144C>A (p.Ile1048=)
c.3087C>A (p.Ile1029=)
c.3021C>A (p.Ile1007=)
c.1587C>A (p.Ile529=)
c.939C>A (p.Ile313=)
c.726C>A (p.Ile242=)
c.3000C>A (p.Ile1000=)
c.3135C>A (p.Ile1045=)
c.3141C>A (p.Ile1047=)
c.3057C>A (p.Ile1019=)
c.3042C>A (p.Ile1014=)
c.2985C>A (p.Ile995=)
c.2919C>A (p.Ile973=)
c.2280C>A (p.Ile760=)
c.2898C>A (p.Ile966=)
9g.137813506C=CA1884685920EHMT1c.3156C= (p.Ile1052=)
c.3063C= (p.Ile1021=)
c.3196C= (n.3196C=)
c.1050C= (p.Ile350=)
c.2013C= (p.Ile671=)
n.16C=
n.682C=
c.3147C= (p.Ile1049=)
c.3138C= (p.Ile1046=)
c.3165C= (p.Ile1055=)
c.3162C= (p.Ile1054=)
c.3144C= (p.Ile1048=)
c.3087C= (p.Ile1029=)
c.3021C= (p.Ile1007=)
c.1587C= (p.Ile529=)
c.939C= (p.Ile313=)
c.726C= (p.Ile242=)
c.3000C= (p.Ile1000=)
c.3135C= (p.Ile1045=)
c.3141C= (p.Ile1047=)
c.3057C= (p.Ile1019=)
c.3042C= (p.Ile1014=)
c.2985C= (p.Ile995=)
c.2919C= (p.Ile973=)
c.2280C= (p.Ile760=)
c.2898C= (p.Ile966=)
9g.137813506C>GCA375794529EHMT1c.3156C>G (p.Ile1052Met)
c.3063C>G (p.Ile1021Met)
c.3196C>G (n.3196C>G)
c.1050C>G (p.Ile350Met)
c.2013C>G (p.Ile671Met)
n.16C>G
n.682C>G
c.3147C>G (p.Ile1049Met)
c.3138C>G (p.Ile1046Met)
c.3165C>G (p.Ile1055Met)
c.3162C>G (p.Ile1054Met)
c.3144C>G (p.Ile1048Met)
c.3087C>G (p.Ile1029Met)
c.3021C>G (p.Ile1007Met)
c.1587C>G (p.Ile529Met)
c.939C>G (p.Ile313Met)
c.726C>G (p.Ile242Met)
c.3000C>G (p.Ile1000Met)
c.3135C>G (p.Ile1045Met)
c.3141C>G (p.Ile1047Met)
c.3057C>G (p.Ile1019Met)
c.3042C>G (p.Ile1014Met)
c.2985C>G (p.Ile995Met)
c.2919C>G (p.Ile973Met)
c.2280C>G (p.Ile760Met)
c.2898C>G (p.Ile966Met)
 dbSNP gnomAD v3 gnomAD v4
9g.137813506C>TCA5375178EHMT1c.3156C>T (p.Ile1052=)
c.3063C>T (p.Ile1021=)
c.3196C>T (n.3196C>T)
c.1050C>T (p.Ile350=)
c.2013C>T (p.Ile671=)
n.16C>T
n.682C>T
c.3147C>T (p.Ile1049=)
c.3138C>T (p.Ile1046=)
c.3165C>T (p.Ile1055=)
c.3162C>T (p.Ile1054=)
c.3144C>T (p.Ile1048=)
c.3087C>T (p.Ile1029=)
c.3021C>T (p.Ile1007=)
c.1587C>T (p.Ile529=)
c.939C>T (p.Ile313=)
c.726C>T (p.Ile242=)
c.3000C>T (p.Ile1000=)
c.3135C>T (p.Ile1045=)
c.3141C>T (p.Ile1047=)
c.3057C>T (p.Ile1019=)
c.3042C>T (p.Ile1014=)
c.2985C>T (p.Ile995=)
c.2919C>T (p.Ile973=)
c.2280C>T (p.Ile760=)
c.2898C>T (p.Ile966=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813507G>ACA5375179EHMT1c.3157G>A (p.Asp1053Asn)
c.3064G>A (p.Asp1022Asn)
c.3197G>A (n.3197G>A)
c.1051G>A (p.Asp351Asn)
c.2014G>A (p.Asp672Asn)
n.17G>A
n.683G>A
c.3148G>A (p.Asp1050Asn)
c.3139G>A (p.Asp1047Asn)
c.3166G>A (p.Asp1056Asn)
c.3163G>A (p.Asp1055Asn)
c.3145G>A (p.Asp1049Asn)
c.3088G>A (p.Asp1030Asn)
c.3022G>A (p.Asp1008Asn)
c.1588G>A (p.Asp530Asn)
c.940G>A (p.Asp314Asn)
c.727G>A (p.Asp243Asn)
c.3001G>A (p.Asp1001Asn)
c.3136G>A (p.Asp1046Asn)
c.3142G>A (p.Asp1048Asn)
c.3058G>A (p.Asp1020Asn)
c.3043G>A (p.Asp1015Asn)
c.2986G>A (p.Asp996Asn)
c.2920G>A (p.Asp974Asn)
c.2281G>A (p.Asp761Asn)
c.2899G>A (p.Asp967Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813507G>CCA375794534EHMT1c.3157G>C (p.Asp1053His)
c.3064G>C (p.Asp1022His)
c.3197G>C (n.3197G>C)
c.1051G>C (p.Asp351His)
c.2014G>C (p.Asp672His)
n.17G>C
n.683G>C
c.3148G>C (p.Asp1050His)
c.3139G>C (p.Asp1047His)
c.3166G>C (p.Asp1056His)
c.3163G>C (p.Asp1055His)
c.3145G>C (p.Asp1049His)
c.3088G>C (p.Asp1030His)
c.3022G>C (p.Asp1008His)
c.1588G>C (p.Asp530His)
c.940G>C (p.Asp314His)
c.727G>C (p.Asp243His)
c.3001G>C (p.Asp1001His)
c.3136G>C (p.Asp1046His)
c.3142G>C (p.Asp1048His)
c.3058G>C (p.Asp1020His)
c.3043G>C (p.Asp1015His)
c.2986G>C (p.Asp996His)
c.2920G>C (p.Asp974His)
c.2281G>C (p.Asp761His)
c.2899G>C (p.Asp967His)
9g.137813507G=CA1884685921EHMT1c.3157G= (p.Asp1053=)
c.3064G= (p.Asp1022=)
c.3197G= (n.3197G=)
c.1051G= (p.Asp351=)
c.2014G= (p.Asp672=)
n.17G=
n.683G=
c.3148G= (p.Asp1050=)
c.3139G= (p.Asp1047=)
c.3166G= (p.Asp1056=)
c.3163G= (p.Asp1055=)
c.3145G= (p.Asp1049=)
c.3088G= (p.Asp1030=)
c.3022G= (p.Asp1008=)
c.1588G= (p.Asp530=)
c.940G= (p.Asp314=)
c.727G= (p.Asp243=)
c.3001G= (p.Asp1001=)
c.3136G= (p.Asp1046=)
c.3142G= (p.Asp1048=)
c.3058G= (p.Asp1020=)
c.3043G= (p.Asp1015=)
c.2986G= (p.Asp996=)
c.2920G= (p.Asp974=)
c.2281G= (p.Asp761=)
c.2899G= (p.Asp967=)
9g.137813507G>TCA201843834EHMT1c.3157G>T (p.Asp1053Tyr)
c.3064G>T (p.Asp1022Tyr)
c.3197G>T (n.3197G>T)
c.1051G>T (p.Asp351Tyr)
c.2014G>T (p.Asp672Tyr)
n.17G>T
n.683G>T
c.3148G>T (p.Asp1050Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3166G>T (p.Asp1056Tyr)
c.3163G>T (p.Asp1055Tyr)
c.3145G>T (p.Asp1049Tyr)
c.3088G>T (p.Asp1030Tyr)
c.3022G>T (p.Asp1008Tyr)
c.1588G>T (p.Asp530Tyr)
c.940G>T (p.Asp314Tyr)
c.727G>T (p.Asp243Tyr)
c.3001G>T (p.Asp1001Tyr)
c.3136G>T (p.Asp1046Tyr)
c.3142G>T (p.Asp1048Tyr)
c.3058G>T (p.Asp1020Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2986G>T (p.Asp996Tyr)
c.2920G>T (p.Asp974Tyr)
c.2281G>T (p.Asp761Tyr)
c.2899G>T (p.Asp967Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.137813508A>CCA375794535EHMT1c.3158A>C (p.Asp1053Ala)
c.3065A>C (p.Asp1022Ala)
c.3198A>C (n.3198A>C)
c.1052A>C (p.Asp351Ala)
c.2015A>C (p.Asp672Ala)
n.18A>C
n.684A>C
c.3149A>C (p.Asp1050Ala)
c.3140A>C (p.Asp1047Ala)
c.3167A>C (p.Asp1056Ala)
c.3164A>C (p.Asp1055Ala)
c.3146A>C (p.Asp1049Ala)
c.3089A>C (p.Asp1030Ala)
c.3023A>C (p.Asp1008Ala)
c.1589A>C (p.Asp530Ala)
c.941A>C (p.Asp314Ala)
c.728A>C (p.Asp243Ala)
c.3002A>C (p.Asp1001Ala)
c.3137A>C (p.Asp1046Ala)
c.3143A>C (p.Asp1048Ala)
c.3059A>C (p.Asp1020Ala)
c.3044A>C (p.Asp1015Ala)
c.2987A>C (p.Asp996Ala)
c.2921A>C (p.Asp974Ala)
c.2282A>C (p.Asp761Ala)
c.2900A>C (p.Asp967Ala)
9g.137813508A>GCA375794537EHMT1c.3158A>G (p.Asp1053Gly)
c.3065A>G (p.Asp1022Gly)
c.3198A>G (n.3198A>G)
c.1052A>G (p.Asp351Gly)
c.2015A>G (p.Asp672Gly)
n.18A>G
n.684A>G
c.3149A>G (p.Asp1050Gly)
c.3140A>G (p.Asp1047Gly)
c.3167A>G (p.Asp1056Gly)
c.3164A>G (p.Asp1055Gly)
c.3146A>G (p.Asp1049Gly)
c.3089A>G (p.Asp1030Gly)
c.3023A>G (p.Asp1008Gly)
c.1589A>G (p.Asp530Gly)
c.941A>G (p.Asp314Gly)
c.728A>G (p.Asp243Gly)
c.3002A>G (p.Asp1001Gly)
c.3137A>G (p.Asp1046Gly)
c.3143A>G (p.Asp1048Gly)
c.3059A>G (p.Asp1020Gly)
c.3044A>G (p.Asp1015Gly)
c.2987A>G (p.Asp996Gly)
c.2921A>G (p.Asp974Gly)
c.2282A>G (p.Asp761Gly)
c.2900A>G (p.Asp967Gly)
9g.137813508A>TCA375794538EHMT1c.3158A>T (p.Asp1053Val)
c.3065A>T (p.Asp1022Val)
c.3198A>T (n.3198A>T)
c.1052A>T (p.Asp351Val)
c.2015A>T (p.Asp672Val)
n.18A>T
n.684A>T
c.3149A>T (p.Asp1050Val)
c.3140A>T (p.Asp1047Val)
c.3167A>T (p.Asp1056Val)
c.3164A>T (p.Asp1055Val)
c.3146A>T (p.Asp1049Val)
c.3089A>T (p.Asp1030Val)
c.3023A>T (p.Asp1008Val)
c.1589A>T (p.Asp530Val)
c.941A>T (p.Asp314Val)
c.728A>T (p.Asp243Val)
c.3002A>T (p.Asp1001Val)
c.3137A>T (p.Asp1046Val)
c.3143A>T (p.Asp1048Val)
c.3059A>T (p.Asp1020Val)
c.3044A>T (p.Asp1015Val)
c.2987A>T (p.Asp996Val)
c.2921A>T (p.Asp974Val)
c.2282A>T (p.Asp761Val)
c.2900A>T (p.Asp967Val)
9g.137813509C>ACA375794540EHMT1c.3159C>A (p.Asp1053Glu)
c.3066C>A (p.Asp1022Glu)
c.3199C>A (n.3199C>A)
c.1053C>A (p.Asp351Glu)
c.2016C>A (p.Asp672Glu)
n.19C>A
n.685C>A
c.3150C>A (p.Asp1050Glu)
c.3141C>A (p.Asp1047Glu)
c.3168C>A (p.Asp1056Glu)
c.3165C>A (p.Asp1055Glu)
c.3147C>A (p.Asp1049Glu)
c.3090C>A (p.Asp1030Glu)
c.3024C>A (p.Asp1008Glu)
c.1590C>A (p.Asp530Glu)
c.942C>A (p.Asp314Glu)
c.729C>A (p.Asp243Glu)
c.3003C>A (p.Asp1001Glu)
c.3138C>A (p.Asp1046Glu)
c.3144C>A (p.Asp1048Glu)
c.3060C>A (p.Asp1020Glu)
c.3045C>A (p.Asp1015Glu)
c.2988C>A (p.Asp996Glu)
c.2922C>A (p.Asp974Glu)
c.2283C>A (p.Asp761Glu)
c.2901C>A (p.Asp967Glu)
9g.137813509C>GCA375794542EHMT1c.3159C>G (p.Asp1053Glu)
c.3066C>G (p.Asp1022Glu)
c.3199C>G (n.3199C>G)
c.1053C>G (p.Asp351Glu)
c.2016C>G (p.Asp672Glu)
n.19C>G
n.685C>G
c.3150C>G (p.Asp1050Glu)
c.3141C>G (p.Asp1047Glu)
c.3168C>G (p.Asp1056Glu)
c.3165C>G (p.Asp1055Glu)
c.3147C>G (p.Asp1049Glu)
c.3090C>G (p.Asp1030Glu)
c.3024C>G (p.Asp1008Glu)
c.1590C>G (p.Asp530Glu)
c.942C>G (p.Asp314Glu)
c.729C>G (p.Asp243Glu)
c.3003C>G (p.Asp1001Glu)
c.3138C>G (p.Asp1046Glu)
c.3144C>G (p.Asp1048Glu)
c.3060C>G (p.Asp1020Glu)
c.3045C>G (p.Asp1015Glu)
c.2988C>G (p.Asp996Glu)
c.2922C>G (p.Asp974Glu)
c.2283C>G (p.Asp761Glu)
c.2901C>G (p.Asp967Glu)
9g.137813509C>TCA467878181EHMT1c.3159C>T (p.Asp1053=)
c.3066C>T (p.Asp1022=)
c.3199C>T (n.3199C>T)
c.1053C>T (p.Asp351=)
c.2016C>T (p.Asp672=)
n.19C>T
n.685C>T
c.3150C>T (p.Asp1050=)
c.3141C>T (p.Asp1047=)
c.3168C>T (p.Asp1056=)
c.3165C>T (p.Asp1055=)
c.3147C>T (p.Asp1049=)
c.3090C>T (p.Asp1030=)
c.3024C>T (p.Asp1008=)
c.1590C>T (p.Asp530=)
c.942C>T (p.Asp314=)
c.729C>T (p.Asp243=)
c.3003C>T (p.Asp1001=)
c.3138C>T (p.Asp1046=)
c.3144C>T (p.Asp1048=)
c.3060C>T (p.Asp1020=)
c.3045C>T (p.Asp1015=)
c.2988C>T (p.Asp996=)
c.2922C>T (p.Asp974=)
c.2283C>T (p.Asp761=)
c.2901C>T (p.Asp967=)
9g.137813510A>CCA467878182EHMT1c.3160A>C (p.Arg1054=)
c.3067A>C (p.Arg1023=)
c.3200A>C (n.3200A>C)
c.1054A>C (p.Arg352=)
c.2017A>C (p.Arg673=)
n.20A>C
n.686A>C
c.3151A>C (p.Arg1051=)
c.3142A>C (p.Arg1048=)
c.3169A>C (p.Arg1057=)
c.3166A>C (p.Arg1056=)
c.3148A>C (p.Arg1050=)
c.3091A>C (p.Arg1031=)
c.3025A>C (p.Arg1009=)
c.1591A>C (p.Arg531=)
c.943A>C (p.Arg315=)
c.730A>C (p.Arg244=)
c.3004A>C (p.Arg1002=)
c.3139A>C (p.Arg1047=)
c.3145A>C (p.Arg1049=)
c.3061A>C (p.Arg1021=)
c.3046A>C (p.Arg1016=)
c.2989A>C (p.Arg997=)
c.2923A>C (p.Arg975=)
c.2284A>C (p.Arg762=)
c.2902A>C (p.Arg968=)
9g.137813510A>GCA375794545EHMT1c.3160A>G (p.Arg1054Gly)
c.3067A>G (p.Arg1023Gly)
c.3200A>G (n.3200A>G)
c.1054A>G (p.Arg352Gly)
c.2017A>G (p.Arg673Gly)
n.20A>G
n.686A>G
c.3151A>G (p.Arg1051Gly)
c.3142A>G (p.Arg1048Gly)
c.3169A>G (p.Arg1057Gly)
c.3166A>G (p.Arg1056Gly)
c.3148A>G (p.Arg1050Gly)
c.3091A>G (p.Arg1031Gly)
c.3025A>G (p.Arg1009Gly)
c.1591A>G (p.Arg531Gly)
c.943A>G (p.Arg315Gly)
c.730A>G (p.Arg244Gly)
c.3004A>G (p.Arg1002Gly)
c.3139A>G (p.Arg1047Gly)
c.3145A>G (p.Arg1049Gly)
c.3061A>G (p.Arg1021Gly)
c.3046A>G (p.Arg1016Gly)
c.2989A>G (p.Arg997Gly)
c.2923A>G (p.Arg975Gly)
c.2284A>G (p.Arg762Gly)
c.2902A>G (p.Arg968Gly)
9g.137813510A>TCA375794546EHMT1c.3160A>T (p.Arg1054Ter)
c.3067A>T (p.Arg1023Ter)
c.3200A>T (n.3200A>T)
c.1054A>T (p.Arg352Ter)
c.2017A>T (p.Arg673Ter)
n.20A>T
n.686A>T
c.3151A>T (p.Arg1051Ter)
c.3142A>T (p.Arg1048Ter)
c.3169A>T (p.Arg1057Ter)
c.3166A>T (p.Arg1056Ter)
c.3148A>T (p.Arg1050Ter)
c.3091A>T (p.Arg1031Ter)
c.3025A>T (p.Arg1009Ter)
c.1591A>T (p.Arg531Ter)
c.943A>T (p.Arg315Ter)
c.730A>T (p.Arg244Ter)
c.3004A>T (p.Arg1002Ter)
c.3139A>T (p.Arg1047Ter)
c.3145A>T (p.Arg1049Ter)
c.3061A>T (p.Arg1021Ter)
c.3046A>T (p.Arg1016Ter)
c.2989A>T (p.Arg997Ter)
c.2923A>T (p.Arg975Ter)
c.2284A>T (p.Arg762Ter)
c.2902A>T (p.Arg968Ter)
9g.137813511G>ACA375794549EHMT1c.3161G>A (p.Arg1054Lys)
c.3068G>A (p.Arg1023Lys)
c.3201G>A (n.3201G>A)
c.1055G>A (p.Arg352Lys)
c.2018G>A (p.Arg673Lys)
n.21G>A
n.687G>A
c.3152G>A (p.Arg1051Lys)
c.3143G>A (p.Arg1048Lys)
c.3170G>A (p.Arg1057Lys)
c.3167G>A (p.Arg1056Lys)
c.3149G>A (p.Arg1050Lys)
c.3092G>A (p.Arg1031Lys)
c.3026G>A (p.Arg1009Lys)
c.1592G>A (p.Arg531Lys)
c.944G>A (p.Arg315Lys)
c.731G>A (p.Arg244Lys)
c.3005G>A (p.Arg1002Lys)
c.3140G>A (p.Arg1047Lys)
c.3146G>A (p.Arg1049Lys)
c.3062G>A (p.Arg1021Lys)
c.3047G>A (p.Arg1016Lys)
c.2990G>A (p.Arg997Lys)
c.2924G>A (p.Arg975Lys)
c.2285G>A (p.Arg762Lys)
c.2903G>A (p.Arg968Lys)
 COSMIC COSMIC
9g.137813511G>CCA375794551EHMT1c.3161G>C (p.Arg1054Thr)
c.3068G>C (p.Arg1023Thr)
c.3201G>C (n.3201G>C)
c.1055G>C (p.Arg352Thr)
c.2018G>C (p.Arg673Thr)
n.21G>C
n.687G>C
c.3152G>C (p.Arg1051Thr)
c.3143G>C (p.Arg1048Thr)
c.3170G>C (p.Arg1057Thr)
c.3167G>C (p.Arg1056Thr)
c.3149G>C (p.Arg1050Thr)
c.3092G>C (p.Arg1031Thr)
c.3026G>C (p.Arg1009Thr)
c.1592G>C (p.Arg531Thr)
c.944G>C (p.Arg315Thr)
c.731G>C (p.Arg244Thr)
c.3005G>C (p.Arg1002Thr)
c.3140G>C (p.Arg1047Thr)
c.3146G>C (p.Arg1049Thr)
c.3062G>C (p.Arg1021Thr)
c.3047G>C (p.Arg1016Thr)
c.2990G>C (p.Arg997Thr)
c.2924G>C (p.Arg975Thr)
c.2285G>C (p.Arg762Thr)
c.2903G>C (p.Arg968Thr)
9g.137813511G>TCA375794553EHMT1c.3161G>T (p.Arg1054Ile)
c.3068G>T (p.Arg1023Ile)
c.3201G>T (n.3201G>T)
c.1055G>T (p.Arg352Ile)
c.2018G>T (p.Arg673Ile)
n.21G>T
n.687G>T
c.3152G>T (p.Arg1051Ile)
c.3143G>T (p.Arg1048Ile)
c.3170G>T (p.Arg1057Ile)
c.3167G>T (p.Arg1056Ile)
c.3149G>T (p.Arg1050Ile)
c.3092G>T (p.Arg1031Ile)
c.3026G>T (p.Arg1009Ile)
c.1592G>T (p.Arg531Ile)
c.944G>T (p.Arg315Ile)
c.731G>T (p.Arg244Ile)
c.3005G>T (p.Arg1002Ile)
c.3140G>T (p.Arg1047Ile)
c.3146G>T (p.Arg1049Ile)
c.3062G>T (p.Arg1021Ile)
c.3047G>T (p.Arg1016Ile)
c.2990G>T (p.Arg997Ile)
c.2924G>T (p.Arg975Ile)
c.2285G>T (p.Arg762Ile)
c.2903G>T (p.Arg968Ile)
9g.137813512A>CCA375794554EHMT1c.3162A>C (p.Arg1054Ser)
c.3069A>C (p.Arg1023Ser)
c.3202A>C (n.3202A>C)
c.1056A>C (p.Arg352Ser)
c.2019A>C (p.Arg673Ser)
n.22A>C
n.688A>C
c.3153A>C (p.Arg1051Ser)
c.3144A>C (p.Arg1048Ser)
c.3171A>C (p.Arg1057Ser)
c.3168A>C (p.Arg1056Ser)
c.3150A>C (p.Arg1050Ser)
c.3093A>C (p.Arg1031Ser)
c.3027A>C (p.Arg1009Ser)
c.1593A>C (p.Arg531Ser)
c.945A>C (p.Arg315Ser)
c.732A>C (p.Arg244Ser)
c.3006A>C (p.Arg1002Ser)
c.3141A>C (p.Arg1047Ser)
c.3147A>C (p.Arg1049Ser)
c.3063A>C (p.Arg1021Ser)
c.3048A>C (p.Arg1016Ser)
c.2991A>C (p.Arg997Ser)
c.2925A>C (p.Arg975Ser)
c.2286A>C (p.Arg762Ser)
c.2904A>C (p.Arg968Ser)
9g.137813512A>GCA467878183EHMT1c.3162A>G (p.Arg1054=)
c.3069A>G (p.Arg1023=)
c.3202A>G (n.3202A>G)
c.1056A>G (p.Arg352=)
c.2019A>G (p.Arg673=)
n.22A>G
n.688A>G
c.3153A>G (p.Arg1051=)
c.3144A>G (p.Arg1048=)
c.3171A>G (p.Arg1057=)
c.3168A>G (p.Arg1056=)
c.3150A>G (p.Arg1050=)
c.3093A>G (p.Arg1031=)
c.3027A>G (p.Arg1009=)
c.1593A>G (p.Arg531=)
c.945A>G (p.Arg315=)
c.732A>G (p.Arg244=)
c.3006A>G (p.Arg1002=)
c.3141A>G (p.Arg1047=)
c.3147A>G (p.Arg1049=)
c.3063A>G (p.Arg1021=)
c.3048A>G (p.Arg1016=)
c.2991A>G (p.Arg997=)
c.2925A>G (p.Arg975=)
c.2286A>G (p.Arg762=)
c.2904A>G (p.Arg968=)
9g.137813512A>TCA375794555EHMT1c.3162A>T (p.Arg1054Ser)
c.3069A>T (p.Arg1023Ser)
c.3202A>T (n.3202A>T)
c.1056A>T (p.Arg352Ser)
c.2019A>T (p.Arg673Ser)
n.22A>T
n.688A>T
c.3153A>T (p.Arg1051Ser)
c.3144A>T (p.Arg1048Ser)
c.3171A>T (p.Arg1057Ser)
c.3168A>T (p.Arg1056Ser)
c.3150A>T (p.Arg1050Ser)
c.3093A>T (p.Arg1031Ser)
c.3027A>T (p.Arg1009Ser)
c.1593A>T (p.Arg531Ser)
c.945A>T (p.Arg315Ser)
c.732A>T (p.Arg244Ser)
c.3006A>T (p.Arg1002Ser)
c.3141A>T (p.Arg1047Ser)
c.3147A>T (p.Arg1049Ser)
c.3063A>T (p.Arg1021Ser)
c.3048A>T (p.Arg1016Ser)
c.2991A>T (p.Arg997Ser)
c.2925A>T (p.Arg975Ser)
c.2286A>T (p.Arg762Ser)
c.2904A>T (p.Arg968Ser)
9g.137813513_137813514delCA2695211838EHMT1c.3163_3164del (p.Asn1055TyrfsTer?)
c.3070_3071del (p.Asn1024TyrfsTer?)
c.3203_3204del (n.3203_3204del)
c.1057_1058del (p.Asn353TyrfsTer28)
c.2020_2021del (p.Asn674TyrfsTer?)
n.23_24del
n.689_690del
c.3154_3155del (p.Asn1052TyrfsTer?)
c.3145_3146del (p.Asn1049TyrfsTer?)
c.3172_3173del (p.Asn1058TyrfsTer?)
c.3169_3170del (p.Asn1057TyrfsTer?)
c.3151_3152del (p.Asn1051TyrfsTer?)
c.3094_3095del (p.Asn1032TyrfsTer?)
c.3028_3029del (p.Asn1010TyrfsTer?)
c.1594_1595del (p.Asn532TyrfsTer?)
c.946_947del (p.Asn316TyrfsTer?)
c.733_734del (p.Asn245TyrfsTer?)
c.3007_3008del (p.Asn1003TyrfsTer?)
c.3142_3143del (p.Asn1048TyrfsTer?)
c.3148_3149del (p.Asn1050TyrfsTer?)
c.3064_3065del (p.Asn1022TyrfsTer?)
c.3049_3050del (p.Asn1017TyrfsTer?)
c.2992_2993del (p.Asn998TyrfsTer?)
c.2926_2927del (p.Asn976TyrfsTer?)
c.2287_2288del (p.Asn763TyrfsTer?)
c.2905_2906del (p.Asn969TyrfsTer?)
9g.137813513A>CCA375794557EHMT1c.3163A>C (p.Asn1055His)
c.3070A>C (p.Asn1024His)
c.3203A>C (n.3203A>C)
c.1057A>C (p.Asn353His)
c.2020A>C (p.Asn674His)
n.23A>C
n.689A>C
c.3154A>C (p.Asn1052His)
c.3145A>C (p.Asn1049His)
c.3172A>C (p.Asn1058His)
c.3169A>C (p.Asn1057His)
c.3151A>C (p.Asn1051His)
c.3094A>C (p.Asn1032His)
c.3028A>C (p.Asn1010His)
c.1594A>C (p.Asn532His)
c.946A>C (p.Asn316His)
c.733A>C (p.Asn245His)
c.3007A>C (p.Asn1003His)
c.3142A>C (p.Asn1048His)
c.3148A>C (p.Asn1050His)
c.3064A>C (p.Asn1022His)
c.3049A>C (p.Asn1017His)
c.2992A>C (p.Asn998His)
c.2926A>C (p.Asn976His)
c.2287A>C (p.Asn763His)
c.2905A>C (p.Asn969His)
9g.137813513A>GCA375794563EHMT1c.3163A>G (p.Asn1055Asp)
c.3070A>G (p.Asn1024Asp)
c.3203A>G (n.3203A>G)
c.1057A>G (p.Asn353Asp)
c.2020A>G (p.Asn674Asp)
n.23A>G
n.689A>G
c.3154A>G (p.Asn1052Asp)
c.3145A>G (p.Asn1049Asp)
c.3172A>G (p.Asn1058Asp)
c.3169A>G (p.Asn1057Asp)
c.3151A>G (p.Asn1051Asp)
c.3094A>G (p.Asn1032Asp)
c.3028A>G (p.Asn1010Asp)
c.1594A>G (p.Asn532Asp)
c.946A>G (p.Asn316Asp)
c.733A>G (p.Asn245Asp)
c.3007A>G (p.Asn1003Asp)
c.3142A>G (p.Asn1048Asp)
c.3148A>G (p.Asn1050Asp)
c.3064A>G (p.Asn1022Asp)
c.3049A>G (p.Asn1017Asp)
c.2992A>G (p.Asn998Asp)
c.2926A>G (p.Asn976Asp)
c.2287A>G (p.Asn763Asp)
c.2905A>G (p.Asn969Asp)
9g.137813513A>TCA375794564EHMT1c.3163A>T (p.Asn1055Tyr)
c.3070A>T (p.Asn1024Tyr)
c.3203A>T (n.3203A>T)
c.1057A>T (p.Asn353Tyr)
c.2020A>T (p.Asn674Tyr)
n.23A>T
n.689A>T
c.3154A>T (p.Asn1052Tyr)
c.3145A>T (p.Asn1049Tyr)
c.3172A>T (p.Asn1058Tyr)
c.3169A>T (p.Asn1057Tyr)
c.3151A>T (p.Asn1051Tyr)
c.3094A>T (p.Asn1032Tyr)
c.3028A>T (p.Asn1010Tyr)
c.1594A>T (p.Asn532Tyr)
c.946A>T (p.Asn316Tyr)
c.733A>T (p.Asn245Tyr)
c.3007A>T (p.Asn1003Tyr)
c.3142A>T (p.Asn1048Tyr)
c.3148A>T (p.Asn1050Tyr)
c.3064A>T (p.Asn1022Tyr)
c.3049A>T (p.Asn1017Tyr)
c.2992A>T (p.Asn998Tyr)
c.2926A>T (p.Asn976Tyr)
c.2287A>T (p.Asn763Tyr)
c.2905A>T (p.Asn969Tyr)
9g.137813514A>CCA375794566EHMT1c.3164A>C (p.Asn1055Thr)
c.3071A>C (p.Asn1024Thr)
c.3204A>C (n.3204A>C)
c.1058A>C (p.Asn353Thr)
c.2021A>C (p.Asn674Thr)
n.24A>C
n.690A>C
c.3155A>C (p.Asn1052Thr)
c.3146A>C (p.Asn1049Thr)
c.3173A>C (p.Asn1058Thr)
c.3170A>C (p.Asn1057Thr)
c.3152A>C (p.Asn1051Thr)
c.3095A>C (p.Asn1032Thr)
c.3029A>C (p.Asn1010Thr)
c.1595A>C (p.Asn532Thr)
c.947A>C (p.Asn316Thr)
c.734A>C (p.Asn245Thr)
c.3008A>C (p.Asn1003Thr)
c.3143A>C (p.Asn1048Thr)
c.3149A>C (p.Asn1050Thr)
c.3065A>C (p.Asn1022Thr)
c.3050A>C (p.Asn1017Thr)
c.2993A>C (p.Asn998Thr)
c.2927A>C (p.Asn976Thr)
c.2288A>C (p.Asn763Thr)
c.2906A>C (p.Asn969Thr)
9g.137813514A>GCA375794568EHMT1c.3164A>G (p.Asn1055Ser)
c.3071A>G (p.Asn1024Ser)
c.3204A>G (n.3204A>G)
c.1058A>G (p.Asn353Ser)
c.2021A>G (p.Asn674Ser)
n.24A>G
n.690A>G
c.3155A>G (p.Asn1052Ser)
c.3146A>G (p.Asn1049Ser)
c.3173A>G (p.Asn1058Ser)
c.3170A>G (p.Asn1057Ser)
c.3152A>G (p.Asn1051Ser)
c.3095A>G (p.Asn1032Ser)
c.3029A>G (p.Asn1010Ser)
c.1595A>G (p.Asn532Ser)
c.947A>G (p.Asn316Ser)
c.734A>G (p.Asn245Ser)
c.3008A>G (p.Asn1003Ser)
c.3143A>G (p.Asn1048Ser)
c.3149A>G (p.Asn1050Ser)
c.3065A>G (p.Asn1022Ser)
c.3050A>G (p.Asn1017Ser)
c.2993A>G (p.Asn998Ser)
c.2927A>G (p.Asn976Ser)
c.2288A>G (p.Asn763Ser)
c.2906A>G (p.Asn969Ser)
9g.137813514A>TCA375794569EHMT1c.3164A>T (p.Asn1055Ile)
c.3071A>T (p.Asn1024Ile)
c.3204A>T (n.3204A>T)
c.1058A>T (p.Asn353Ile)
c.2021A>T (p.Asn674Ile)
n.24A>T
n.690A>T
c.3155A>T (p.Asn1052Ile)
c.3146A>T (p.Asn1049Ile)
c.3173A>T (p.Asn1058Ile)
c.3170A>T (p.Asn1057Ile)
c.3152A>T (p.Asn1051Ile)
c.3095A>T (p.Asn1032Ile)
c.3029A>T (p.Asn1010Ile)
c.1595A>T (p.Asn532Ile)
c.947A>T (p.Asn316Ile)
c.734A>T (p.Asn245Ile)
c.3008A>T (p.Asn1003Ile)
c.3143A>T (p.Asn1048Ile)
c.3149A>T (p.Asn1050Ile)
c.3065A>T (p.Asn1022Ile)
c.3050A>T (p.Asn1017Ile)
c.2993A>T (p.Asn998Ile)
c.2927A>T (p.Asn976Ile)
c.2288A>T (p.Asn763Ile)
c.2906A>T (p.Asn969Ile)
9g.137813515T>ACA375794572EHMT1c.3165T>A (p.Asn1055Lys)
c.3072T>A (p.Asn1024Lys)
c.3205T>A (n.3205T>A)
c.1059T>A (p.Asn353Lys)
c.2022T>A (p.Asn674Lys)
n.25T>A
n.691T>A
c.3156T>A (p.Asn1052Lys)
c.3147T>A (p.Asn1049Lys)
c.3174T>A (p.Asn1058Lys)
c.3171T>A (p.Asn1057Lys)
c.3153T>A (p.Asn1051Lys)
c.3096T>A (p.Asn1032Lys)
c.3030T>A (p.Asn1010Lys)
c.1596T>A (p.Asn532Lys)
c.948T>A (p.Asn316Lys)
c.735T>A (p.Asn245Lys)
c.3009T>A (p.Asn1003Lys)
c.3144T>A (p.Asn1048Lys)
c.3150T>A (p.Asn1050Lys)
c.3066T>A (p.Asn1022Lys)
c.3051T>A (p.Asn1017Lys)
c.2994T>A (p.Asn998Lys)
c.2928T>A (p.Asn976Lys)
c.2289T>A (p.Asn763Lys)
c.2907T>A (p.Asn969Lys)
9g.137813515T>CCA467878184EHMT1c.3165T>C (p.Asn1055=)
c.3072T>C (p.Asn1024=)
c.3205T>C (n.3205T>C)
c.1059T>C (p.Asn353=)
c.2022T>C (p.Asn674=)
n.25T>C
n.691T>C
c.3156T>C (p.Asn1052=)
c.3147T>C (p.Asn1049=)
c.3174T>C (p.Asn1058=)
c.3171T>C (p.Asn1057=)
c.3153T>C (p.Asn1051=)
c.3096T>C (p.Asn1032=)
c.3030T>C (p.Asn1010=)
c.1596T>C (p.Asn532=)
c.948T>C (p.Asn316=)
c.735T>C (p.Asn245=)
c.3009T>C (p.Asn1003=)
c.3144T>C (p.Asn1048=)
c.3150T>C (p.Asn1050=)
c.3066T>C (p.Asn1022=)
c.3051T>C (p.Asn1017=)
c.2994T>C (p.Asn998=)
c.2928T>C (p.Asn976=)
c.2289T>C (p.Asn763=)
c.2907T>C (p.Asn969=)
 ClinVar gnomAD v4
9g.137813515T>GCA375794574EHMT1c.3165T>G (p.Asn1055Lys)
c.3072T>G (p.Asn1024Lys)
c.3205T>G (n.3205T>G)
c.1059T>G (p.Asn353Lys)
c.2022T>G (p.Asn674Lys)
n.25T>G
n.691T>G
c.3156T>G (p.Asn1052Lys)
c.3147T>G (p.Asn1049Lys)
c.3174T>G (p.Asn1058Lys)
c.3171T>G (p.Asn1057Lys)
c.3153T>G (p.Asn1051Lys)
c.3096T>G (p.Asn1032Lys)
c.3030T>G (p.Asn1010Lys)
c.1596T>G (p.Asn532Lys)
c.948T>G (p.Asn316Lys)
c.735T>G (p.Asn245Lys)
c.3009T>G (p.Asn1003Lys)
c.3144T>G (p.Asn1048Lys)
c.3150T>G (p.Asn1050Lys)
c.3066T>G (p.Asn1022Lys)
c.3051T>G (p.Asn1017Lys)
c.2994T>G (p.Asn998Lys)
c.2928T>G (p.Asn976Lys)
c.2289T>G (p.Asn763Lys)
c.2907T>G (p.Asn969Lys)
9g.137813516A>CCA375794578EHMT1c.3166A>C (p.Ile1056Leu)
c.3073A>C (p.Ile1025Leu)
c.3206A>C (n.3206A>C)
c.1060A>C (p.Ile354Leu)
c.2023A>C (p.Ile675Leu)
n.26A>C
n.692A>C
c.3157A>C (p.Ile1053Leu)
c.3148A>C (p.Ile1050Leu)
c.3175A>C (p.Ile1059Leu)
c.3172A>C (p.Ile1058Leu)
c.3154A>C (p.Ile1052Leu)
c.3097A>C (p.Ile1033Leu)
c.3031A>C (p.Ile1011Leu)
c.1597A>C (p.Ile533Leu)
c.949A>C (p.Ile317Leu)
c.736A>C (p.Ile246Leu)
c.3010A>C (p.Ile1004Leu)
c.3145A>C (p.Ile1049Leu)
c.3151A>C (p.Ile1051Leu)
c.3067A>C (p.Ile1023Leu)
c.3052A>C (p.Ile1018Leu)
c.2995A>C (p.Ile999Leu)
c.2929A>C (p.Ile977Leu)
c.2290A>C (p.Ile764Leu)
c.2908A>C (p.Ile970Leu)
9g.137813516A>GCA375794579EHMT1c.3166A>G (p.Ile1056Val)
c.3073A>G (p.Ile1025Val)
c.3206A>G (n.3206A>G)
c.1060A>G (p.Ile354Val)
c.2023A>G (p.Ile675Val)
n.26A>G
n.692A>G
c.3157A>G (p.Ile1053Val)
c.3148A>G (p.Ile1050Val)
c.3175A>G (p.Ile1059Val)
c.3172A>G (p.Ile1058Val)
c.3154A>G (p.Ile1052Val)
c.3097A>G (p.Ile1033Val)
c.3031A>G (p.Ile1011Val)
c.1597A>G (p.Ile533Val)
c.949A>G (p.Ile317Val)
c.736A>G (p.Ile246Val)
c.3010A>G (p.Ile1004Val)
c.3145A>G (p.Ile1049Val)
c.3151A>G (p.Ile1051Val)
c.3067A>G (p.Ile1023Val)
c.3052A>G (p.Ile1018Val)
c.2995A>G (p.Ile999Val)
c.2929A>G (p.Ile977Val)
c.2290A>G (p.Ile764Val)
c.2908A>G (p.Ile970Val)
9g.137813516A>TCA375794582EHMT1c.3166A>T (p.Ile1056Phe)
c.3073A>T (p.Ile1025Phe)
c.3206A>T (n.3206A>T)
c.1060A>T (p.Ile354Phe)
c.2023A>T (p.Ile675Phe)
n.26A>T
n.692A>T
c.3157A>T (p.Ile1053Phe)
c.3148A>T (p.Ile1050Phe)
c.3175A>T (p.Ile1059Phe)
c.3172A>T (p.Ile1058Phe)
c.3154A>T (p.Ile1052Phe)
c.3097A>T (p.Ile1033Phe)
c.3031A>T (p.Ile1011Phe)
c.1597A>T (p.Ile533Phe)
c.949A>T (p.Ile317Phe)
c.736A>T (p.Ile246Phe)
c.3010A>T (p.Ile1004Phe)
c.3145A>T (p.Ile1049Phe)
c.3151A>T (p.Ile1051Phe)
c.3067A>T (p.Ile1023Phe)
c.3052A>T (p.Ile1018Phe)
c.2995A>T (p.Ile999Phe)
c.2929A>T (p.Ile977Phe)
c.2290A>T (p.Ile764Phe)
c.2908A>T (p.Ile970Phe)
9g.137813517T>ACA375794586EHMT1c.3167T>A (p.Ile1056Asn)
c.3074T>A (p.Ile1025Asn)
c.3207T>A (n.3207T>A)
c.1061T>A (p.Ile354Asn)
c.2024T>A (p.Ile675Asn)
n.27T>A
n.693T>A
c.3158T>A (p.Ile1053Asn)
c.3149T>A (p.Ile1050Asn)
c.3176T>A (p.Ile1059Asn)
c.3173T>A (p.Ile1058Asn)
c.3155T>A (p.Ile1052Asn)
c.3098T>A (p.Ile1033Asn)
c.3032T>A (p.Ile1011Asn)
c.1598T>A (p.Ile533Asn)
c.950T>A (p.Ile317Asn)
c.737T>A (p.Ile246Asn)
c.3011T>A (p.Ile1004Asn)
c.3146T>A (p.Ile1049Asn)
c.3152T>A (p.Ile1051Asn)
c.3068T>A (p.Ile1023Asn)
c.3053T>A (p.Ile1018Asn)
c.2996T>A (p.Ile999Asn)
c.2930T>A (p.Ile977Asn)
c.2291T>A (p.Ile764Asn)
c.2909T>A (p.Ile970Asn)
9g.137813517T>CCA375794588EHMT1c.3167T>C (p.Ile1056Thr)
c.3074T>C (p.Ile1025Thr)
c.3207T>C (n.3207T>C)
c.1061T>C (p.Ile354Thr)
c.2024T>C (p.Ile675Thr)
n.27T>C
n.693T>C
c.3158T>C (p.Ile1053Thr)
c.3149T>C (p.Ile1050Thr)
c.3176T>C (p.Ile1059Thr)
c.3173T>C (p.Ile1058Thr)
c.3155T>C (p.Ile1052Thr)
c.3098T>C (p.Ile1033Thr)
c.3032T>C (p.Ile1011Thr)
c.1598T>C (p.Ile533Thr)
c.950T>C (p.Ile317Thr)
c.737T>C (p.Ile246Thr)
c.3011T>C (p.Ile1004Thr)
c.3146T>C (p.Ile1049Thr)
c.3152T>C (p.Ile1051Thr)
c.3068T>C (p.Ile1023Thr)
c.3053T>C (p.Ile1018Thr)
c.2996T>C (p.Ile999Thr)
c.2930T>C (p.Ile977Thr)
c.2291T>C (p.Ile764Thr)
c.2909T>C (p.Ile970Thr)
9g.137813517T>GCA375794592EHMT1c.3167T>G (p.Ile1056Ser)
c.3074T>G (p.Ile1025Ser)
c.3207T>G (n.3207T>G)
c.1061T>G (p.Ile354Ser)
c.2024T>G (p.Ile675Ser)
n.27T>G
n.693T>G
c.3158T>G (p.Ile1053Ser)
c.3149T>G (p.Ile1050Ser)
c.3176T>G (p.Ile1059Ser)
c.3173T>G (p.Ile1058Ser)
c.3155T>G (p.Ile1052Ser)
c.3098T>G (p.Ile1033Ser)
c.3032T>G (p.Ile1011Ser)
c.1598T>G (p.Ile533Ser)
c.950T>G (p.Ile317Ser)
c.737T>G (p.Ile246Ser)
c.3011T>G (p.Ile1004Ser)
c.3146T>G (p.Ile1049Ser)
c.3152T>G (p.Ile1051Ser)
c.3068T>G (p.Ile1023Ser)
c.3053T>G (p.Ile1018Ser)
c.2996T>G (p.Ile999Ser)
c.2930T>G (p.Ile977Ser)
c.2291T>G (p.Ile764Ser)
c.2909T>G (p.Ile970Ser)
9g.137813518C>ACA467878185EHMT1c.3168C>A (p.Ile1056=)
c.3075C>A (p.Ile1025=)
c.3208C>A (n.3208C>A)
c.1062C>A (p.Ile354=)
c.2025C>A (p.Ile675=)
n.28C>A
n.694C>A
c.3159C>A (p.Ile1053=)
c.3150C>A (p.Ile1050=)
c.3177C>A (p.Ile1059=)
c.3174C>A (p.Ile1058=)
c.3156C>A (p.Ile1052=)
c.3099C>A (p.Ile1033=)
c.3033C>A (p.Ile1011=)
c.1599C>A (p.Ile533=)
c.951C>A (p.Ile317=)
c.738C>A (p.Ile246=)
c.3012C>A (p.Ile1004=)
c.3147C>A (p.Ile1049=)
c.3153C>A (p.Ile1051=)
c.3069C>A (p.Ile1023=)
c.3054C>A (p.Ile1018=)
c.2997C>A (p.Ile999=)
c.2931C>A (p.Ile977=)
c.2292C>A (p.Ile764=)
c.2910C>A (p.Ile970=)
9g.137813518C=CA1884685922EHMT1c.3168C= (p.Ile1056=)
c.3075C= (p.Ile1025=)
c.3208C= (n.3208C=)
c.1062C= (p.Ile354=)
c.2025C= (p.Ile675=)
n.28C=
n.694C=
c.3159C= (p.Ile1053=)
c.3150C= (p.Ile1050=)
c.3177C= (p.Ile1059=)
c.3174C= (p.Ile1058=)
c.3156C= (p.Ile1052=)
c.3099C= (p.Ile1033=)
c.3033C= (p.Ile1011=)
c.1599C= (p.Ile533=)
c.951C= (p.Ile317=)
c.738C= (p.Ile246=)
c.3012C= (p.Ile1004=)
c.3147C= (p.Ile1049=)
c.3153C= (p.Ile1051=)
c.3069C= (p.Ile1023=)
c.3054C= (p.Ile1018=)
c.2997C= (p.Ile999=)
c.2931C= (p.Ile977=)
c.2292C= (p.Ile764=)
c.2910C= (p.Ile970=)
9g.137813518C>GCA375794595EHMT1c.3168C>G (p.Ile1056Met)
c.3075C>G (p.Ile1025Met)
c.3208C>G (n.3208C>G)
c.1062C>G (p.Ile354Met)
c.2025C>G (p.Ile675Met)
n.28C>G
n.694C>G
c.3159C>G (p.Ile1053Met)
c.3150C>G (p.Ile1050Met)
c.3177C>G (p.Ile1059Met)
c.3174C>G (p.Ile1058Met)
c.3156C>G (p.Ile1052Met)
c.3099C>G (p.Ile1033Met)
c.3033C>G (p.Ile1011Met)
c.1599C>G (p.Ile533Met)
c.951C>G (p.Ile317Met)
c.738C>G (p.Ile246Met)
c.3012C>G (p.Ile1004Met)
c.3147C>G (p.Ile1049Met)
c.3153C>G (p.Ile1051Met)
c.3069C>G (p.Ile1023Met)
c.3054C>G (p.Ile1018Met)
c.2997C>G (p.Ile999Met)
c.2931C>G (p.Ile977Met)
c.2292C>G (p.Ile764Met)
c.2910C>G (p.Ile970Met)
9g.137813518C>TCA5375180EHMT1c.3168C>T (p.Ile1056=)
c.3075C>T (p.Ile1025=)
c.3208C>T (n.3208C>T)
c.1062C>T (p.Ile354=)
c.2025C>T (p.Ile675=)
n.28C>T
n.694C>T
c.3159C>T (p.Ile1053=)
c.3150C>T (p.Ile1050=)
c.3177C>T (p.Ile1059=)
c.3174C>T (p.Ile1058=)
c.3156C>T (p.Ile1052=)
c.3099C>T (p.Ile1033=)
c.3033C>T (p.Ile1011=)
c.1599C>T (p.Ile533=)
c.951C>T (p.Ile317=)
c.738C>T (p.Ile246=)
c.3012C>T (p.Ile1004=)
c.3147C>T (p.Ile1049=)
c.3153C>T (p.Ile1051=)
c.3069C>T (p.Ile1023=)
c.3054C>T (p.Ile1018=)
c.2997C>T (p.Ile999=)
c.2931C>T (p.Ile977=)
c.2292C>T (p.Ile764=)
c.2910C>T (p.Ile970=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813519A>CCA375794600EHMT1c.3169A>C (p.Thr1057Pro)
c.3076A>C (p.Thr1026Pro)
c.3209A>C (n.3209A>C)
c.1063A>C (p.Thr355Pro)
c.2026A>C (p.Thr676Pro)
n.29A>C
n.695A>C
c.3160A>C (p.Thr1054Pro)
c.3151A>C (p.Thr1051Pro)
c.3178A>C (p.Thr1060Pro)
c.3175A>C (p.Thr1059Pro)
c.3157A>C (p.Thr1053Pro)
c.3100A>C (p.Thr1034Pro)
c.3034A>C (p.Thr1012Pro)
c.1600A>C (p.Thr534Pro)
c.952A>C (p.Thr318Pro)
c.739A>C (p.Thr247Pro)
c.3013A>C (p.Thr1005Pro)
c.3148A>C (p.Thr1050Pro)
c.3154A>C (p.Thr1052Pro)
c.3070A>C (p.Thr1024Pro)
c.3055A>C (p.Thr1019Pro)
c.2998A>C (p.Thr1000Pro)
c.2932A>C (p.Thr978Pro)
c.2293A>C (p.Thr765Pro)
c.2911A>C (p.Thr971Pro)
9g.137813519A>GCA375794602EHMT1c.3169A>G (p.Thr1057Ala)
c.3076A>G (p.Thr1026Ala)
c.3209A>G (n.3209A>G)
c.1063A>G (p.Thr355Ala)
c.2026A>G (p.Thr676Ala)
n.29A>G
n.695A>G
c.3160A>G (p.Thr1054Ala)
c.3151A>G (p.Thr1051Ala)
c.3178A>G (p.Thr1060Ala)
c.3175A>G (p.Thr1059Ala)
c.3157A>G (p.Thr1053Ala)
c.3100A>G (p.Thr1034Ala)
c.3034A>G (p.Thr1012Ala)
c.1600A>G (p.Thr534Ala)
c.952A>G (p.Thr318Ala)
c.739A>G (p.Thr247Ala)
c.3013A>G (p.Thr1005Ala)
c.3148A>G (p.Thr1050Ala)
c.3154A>G (p.Thr1052Ala)
c.3070A>G (p.Thr1024Ala)
c.3055A>G (p.Thr1019Ala)
c.2998A>G (p.Thr1000Ala)
c.2932A>G (p.Thr978Ala)
c.2293A>G (p.Thr765Ala)
c.2911A>G (p.Thr971Ala)
9g.137813519A>TCA375794606EHMT1c.3169A>T (p.Thr1057Ser)
c.3076A>T (p.Thr1026Ser)
c.3209A>T (n.3209A>T)
c.1063A>T (p.Thr355Ser)
c.2026A>T (p.Thr676Ser)
n.29A>T
n.695A>T
c.3160A>T (p.Thr1054Ser)
c.3151A>T (p.Thr1051Ser)
c.3178A>T (p.Thr1060Ser)
c.3175A>T (p.Thr1059Ser)
c.3157A>T (p.Thr1053Ser)
c.3100A>T (p.Thr1034Ser)
c.3034A>T (p.Thr1012Ser)
c.1600A>T (p.Thr534Ser)
c.952A>T (p.Thr318Ser)
c.739A>T (p.Thr247Ser)
c.3013A>T (p.Thr1005Ser)
c.3148A>T (p.Thr1050Ser)
c.3154A>T (p.Thr1052Ser)
c.3070A>T (p.Thr1024Ser)
c.3055A>T (p.Thr1019Ser)
c.2998A>T (p.Thr1000Ser)
c.2932A>T (p.Thr978Ser)
c.2293A>T (p.Thr765Ser)
c.2911A>T (p.Thr971Ser)
9g.137813520C>ACA375794609EHMT1c.3170C>A (p.Thr1057Asn)
c.3077C>A (p.Thr1026Asn)
c.3210C>A (n.3210C>A)
c.1064C>A (p.Thr355Asn)
c.2027C>A (p.Thr676Asn)
n.30C>A
n.696C>A
c.3161C>A (p.Thr1054Asn)
c.3152C>A (p.Thr1051Asn)
c.3179C>A (p.Thr1060Asn)
c.3176C>A (p.Thr1059Asn)
c.3158C>A (p.Thr1053Asn)
c.3101C>A (p.Thr1034Asn)
c.3035C>A (p.Thr1012Asn)
c.1601C>A (p.Thr534Asn)
c.953C>A (p.Thr318Asn)
c.740C>A (p.Thr247Asn)
c.3014C>A (p.Thr1005Asn)
c.3149C>A (p.Thr1050Asn)
c.3155C>A (p.Thr1052Asn)
c.3071C>A (p.Thr1024Asn)
c.3056C>A (p.Thr1019Asn)
c.2999C>A (p.Thr1000Asn)
c.2933C>A (p.Thr978Asn)
c.2294C>A (p.Thr765Asn)
c.2912C>A (p.Thr971Asn)
9g.137813520C=CA1884685923EHMT1c.3170C= (p.Thr1057=)
c.3077C= (p.Thr1026=)
c.3210C= (n.3210C=)
c.1064C= (p.Thr355=)
c.2027C= (p.Thr676=)
n.30C=
n.696C=
c.3161C= (p.Thr1054=)
c.3152C= (p.Thr1051=)
c.3179C= (p.Thr1060=)
c.3176C= (p.Thr1059=)
c.3158C= (p.Thr1053=)
c.3101C= (p.Thr1034=)
c.3035C= (p.Thr1012=)
c.1601C= (p.Thr534=)
c.953C= (p.Thr318=)
c.740C= (p.Thr247=)
c.3014C= (p.Thr1005=)
c.3149C= (p.Thr1050=)
c.3155C= (p.Thr1052=)
c.3071C= (p.Thr1024=)
c.3056C= (p.Thr1019=)
c.2999C= (p.Thr1000=)
c.2933C= (p.Thr978=)
c.2294C= (p.Thr765=)
c.2912C= (p.Thr971=)
9g.137813520C>GCA375794612EHMT1c.3170C>G (p.Thr1057Ser)
c.3077C>G (p.Thr1026Ser)
c.3210C>G (n.3210C>G)
c.1064C>G (p.Thr355Ser)
c.2027C>G (p.Thr676Ser)
n.30C>G
n.696C>G
c.3161C>G (p.Thr1054Ser)
c.3152C>G (p.Thr1051Ser)
c.3179C>G (p.Thr1060Ser)
c.3176C>G (p.Thr1059Ser)
c.3158C>G (p.Thr1053Ser)
c.3101C>G (p.Thr1034Ser)
c.3035C>G (p.Thr1012Ser)
c.1601C>G (p.Thr534Ser)
c.953C>G (p.Thr318Ser)
c.740C>G (p.Thr247Ser)
c.3014C>G (p.Thr1005Ser)
c.3149C>G (p.Thr1050Ser)
c.3155C>G (p.Thr1052Ser)
c.3071C>G (p.Thr1024Ser)
c.3056C>G (p.Thr1019Ser)
c.2999C>G (p.Thr1000Ser)
c.2933C>G (p.Thr978Ser)
c.2294C>G (p.Thr765Ser)
c.2912C>G (p.Thr971Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813520C>TCA375794614EHMT1c.3170C>T (p.Thr1057Ile)
c.3077C>T (p.Thr1026Ile)
c.3210C>T (n.3210C>T)
c.1064C>T (p.Thr355Ile)
c.2027C>T (p.Thr676Ile)
n.30C>T
n.696C>T
c.3161C>T (p.Thr1054Ile)
c.3152C>T (p.Thr1051Ile)
c.3179C>T (p.Thr1060Ile)
c.3176C>T (p.Thr1059Ile)
c.3158C>T (p.Thr1053Ile)
c.3101C>T (p.Thr1034Ile)
c.3035C>T (p.Thr1012Ile)
c.1601C>T (p.Thr534Ile)
c.953C>T (p.Thr318Ile)
c.740C>T (p.Thr247Ile)
c.3014C>T (p.Thr1005Ile)
c.3149C>T (p.Thr1050Ile)
c.3155C>T (p.Thr1052Ile)
c.3071C>T (p.Thr1024Ile)
c.3056C>T (p.Thr1019Ile)
c.2999C>T (p.Thr1000Ile)
c.2933C>T (p.Thr978Ile)
c.2294C>T (p.Thr765Ile)
c.2912C>T (p.Thr971Ile)
 ClinVar dbSNP gnomAD v4
9g.137813521T>ACA467878186EHMT1c.3171T>A (p.Thr1057=)
c.3078T>A (p.Thr1026=)
c.3211T>A (n.3211T>A)
c.1065T>A (p.Thr355=)
c.2028T>A (p.Thr676=)
n.31T>A
n.697T>A
c.3162T>A (p.Thr1054=)
c.3153T>A (p.Thr1051=)
c.3180T>A (p.Thr1060=)
c.3177T>A (p.Thr1059=)
c.3159T>A (p.Thr1053=)
c.3102T>A (p.Thr1034=)
c.3036T>A (p.Thr1012=)
c.1602T>A (p.Thr534=)
c.954T>A (p.Thr318=)
c.741T>A (p.Thr247=)
c.3015T>A (p.Thr1005=)
c.3150T>A (p.Thr1050=)
c.3156T>A (p.Thr1052=)
c.3072T>A (p.Thr1024=)
c.3057T>A (p.Thr1019=)
c.3000T>A (p.Thr1000=)
c.2934T>A (p.Thr978=)
c.2295T>A (p.Thr765=)
c.2913T>A (p.Thr971=)
9g.137813521T>CCA467878187EHMT1c.3171T>C (p.Thr1057=)
c.3078T>C (p.Thr1026=)
c.3211T>C (n.3211T>C)
c.1065T>C (p.Thr355=)
c.2028T>C (p.Thr676=)
n.31T>C
n.697T>C
c.3162T>C (p.Thr1054=)
c.3153T>C (p.Thr1051=)
c.3180T>C (p.Thr1060=)
c.3177T>C (p.Thr1059=)
c.3159T>C (p.Thr1053=)
c.3102T>C (p.Thr1034=)
c.3036T>C (p.Thr1012=)
c.1602T>C (p.Thr534=)
c.954T>C (p.Thr318=)
c.741T>C (p.Thr247=)
c.3015T>C (p.Thr1005=)
c.3150T>C (p.Thr1050=)
c.3156T>C (p.Thr1052=)
c.3072T>C (p.Thr1024=)
c.3057T>C (p.Thr1019=)
c.3000T>C (p.Thr1000=)
c.2934T>C (p.Thr978=)
c.2295T>C (p.Thr765=)
c.2913T>C (p.Thr971=)
9g.137813521T>GCA467878188EHMT1c.3171T>G (p.Thr1057=)
c.3078T>G (p.Thr1026=)
c.3211T>G (n.3211T>G)
c.1065T>G (p.Thr355=)
c.2028T>G (p.Thr676=)
n.31T>G
n.697T>G
c.3162T>G (p.Thr1054=)
c.3153T>G (p.Thr1051=)
c.3180T>G (p.Thr1060=)
c.3177T>G (p.Thr1059=)
c.3159T>G (p.Thr1053=)
c.3102T>G (p.Thr1034=)
c.3036T>G (p.Thr1012=)
c.1602T>G (p.Thr534=)
c.954T>G (p.Thr318=)
c.741T>G (p.Thr247=)
c.3015T>G (p.Thr1005=)
c.3150T>G (p.Thr1050=)
c.3156T>G (p.Thr1052=)
c.3072T>G (p.Thr1024=)
c.3057T>G (p.Thr1019=)
c.3000T>G (p.Thr1000=)
c.2934T>G (p.Thr978=)
c.2295T>G (p.Thr765=)
c.2913T>G (p.Thr971=)
9g.137813522C>ACA375794615EHMT1c.3172C>A (p.His1058Asn)
c.3079C>A (p.His1027Asn)
c.3212C>A (n.3212C>A)
c.1066C>A (p.His356Asn)
c.2029C>A (p.His677Asn)
n.32C>A
n.698C>A
c.3163C>A (p.His1055Asn)
c.3154C>A (p.His1052Asn)
c.3181C>A (p.His1061Asn)
c.3178C>A (p.His1060Asn)
c.3160C>A (p.His1054Asn)
c.3103C>A (p.His1035Asn)
c.3037C>A (p.His1013Asn)
c.1603C>A (p.His535Asn)
c.955C>A (p.His319Asn)
c.742C>A (p.His248Asn)
c.3016C>A (p.His1006Asn)
c.3151C>A (p.His1051Asn)
c.3157C>A (p.His1053Asn)
c.3073C>A (p.His1025Asn)
c.3058C>A (p.His1020Asn)
c.3001C>A (p.His1001Asn)
c.2935C>A (p.His979Asn)
c.2296C>A (p.His766Asn)
c.2914C>A (p.His972Asn)
9g.137813522C>GCA375794616EHMT1c.3172C>G (p.His1058Asp)
c.3079C>G (p.His1027Asp)
c.3212C>G (n.3212C>G)
c.1066C>G (p.His356Asp)
c.2029C>G (p.His677Asp)
n.32C>G
n.698C>G
c.3163C>G (p.His1055Asp)
c.3154C>G (p.His1052Asp)
c.3181C>G (p.His1061Asp)
c.3178C>G (p.His1060Asp)
c.3160C>G (p.His1054Asp)
c.3103C>G (p.His1035Asp)
c.3037C>G (p.His1013Asp)
c.1603C>G (p.His535Asp)
c.955C>G (p.His319Asp)
c.742C>G (p.His248Asp)
c.3016C>G (p.His1006Asp)
c.3151C>G (p.His1051Asp)
c.3157C>G (p.His1053Asp)
c.3073C>G (p.His1025Asp)
c.3058C>G (p.His1020Asp)
c.3001C>G (p.His1001Asp)
c.2935C>G (p.His979Asp)
c.2296C>G (p.His766Asp)
c.2914C>G (p.His972Asp)
9g.137813522C>TCA375794617EHMT1c.3172C>T (p.His1058Tyr)
c.3079C>T (p.His1027Tyr)
c.3212C>T (n.3212C>T)
c.1066C>T (p.His356Tyr)
c.2029C>T (p.His677Tyr)
n.32C>T
n.698C>T
c.3163C>T (p.His1055Tyr)
c.3154C>T (p.His1052Tyr)
c.3181C>T (p.His1061Tyr)
c.3178C>T (p.His1060Tyr)
c.3160C>T (p.His1054Tyr)
c.3103C>T (p.His1035Tyr)
c.3037C>T (p.His1013Tyr)
c.1603C>T (p.His535Tyr)
c.955C>T (p.His319Tyr)
c.742C>T (p.His248Tyr)
c.3016C>T (p.His1006Tyr)
c.3151C>T (p.His1051Tyr)
c.3157C>T (p.His1053Tyr)
c.3073C>T (p.His1025Tyr)
c.3058C>T (p.His1020Tyr)
c.3001C>T (p.His1001Tyr)
c.2935C>T (p.His979Tyr)
c.2296C>T (p.His766Tyr)
c.2914C>T (p.His972Tyr)
 gnomAD v4
9g.137813523A>CCA375794618EHMT1c.3173A>C (p.His1058Pro)
c.3080A>C (p.His1027Pro)
c.3213A>C (n.3213A>C)
c.1067A>C (p.His356Pro)
c.2030A>C (p.His677Pro)
n.33A>C
n.699A>C
c.3164A>C (p.His1055Pro)
c.3155A>C (p.His1052Pro)
c.3182A>C (p.His1061Pro)
c.3179A>C (p.His1060Pro)
c.3161A>C (p.His1054Pro)
c.3104A>C (p.His1035Pro)
c.3038A>C (p.His1013Pro)
c.1604A>C (p.His535Pro)
c.956A>C (p.His319Pro)
c.743A>C (p.His248Pro)
c.3017A>C (p.His1006Pro)
c.3152A>C (p.His1051Pro)
c.3158A>C (p.His1053Pro)
c.3074A>C (p.His1025Pro)
c.3059A>C (p.His1020Pro)
c.3002A>C (p.His1001Pro)
c.2936A>C (p.His979Pro)
c.2297A>C (p.His766Pro)
c.2915A>C (p.His972Pro)
9g.137813523A>GCA375794619EHMT1c.3173A>G (p.His1058Arg)
c.3080A>G (p.His1027Arg)
c.3213A>G (n.3213A>G)
c.1067A>G (p.His356Arg)
c.2030A>G (p.His677Arg)
n.33A>G
n.699A>G
c.3164A>G (p.His1055Arg)
c.3155A>G (p.His1052Arg)
c.3182A>G (p.His1061Arg)
c.3179A>G (p.His1060Arg)
c.3161A>G (p.His1054Arg)
c.3104A>G (p.His1035Arg)
c.3038A>G (p.His1013Arg)
c.1604A>G (p.His535Arg)
c.956A>G (p.His319Arg)
c.743A>G (p.His248Arg)
c.3017A>G (p.His1006Arg)
c.3152A>G (p.His1051Arg)
c.3158A>G (p.His1053Arg)
c.3074A>G (p.His1025Arg)
c.3059A>G (p.His1020Arg)
c.3002A>G (p.His1001Arg)
c.2936A>G (p.His979Arg)
c.2297A>G (p.His766Arg)
c.2915A>G (p.His972Arg)
 ClinVar
9g.137813523A>TCA375794620EHMT1c.3173A>T (p.His1058Leu)
c.3080A>T (p.His1027Leu)
c.3213A>T (n.3213A>T)
c.1067A>T (p.His356Leu)
c.2030A>T (p.His677Leu)
n.33A>T
n.699A>T
c.3164A>T (p.His1055Leu)
c.3155A>T (p.His1052Leu)
c.3182A>T (p.His1061Leu)
c.3179A>T (p.His1060Leu)
c.3161A>T (p.His1054Leu)
c.3104A>T (p.His1035Leu)
c.3038A>T (p.His1013Leu)
c.1604A>T (p.His535Leu)
c.956A>T (p.His319Leu)
c.743A>T (p.His248Leu)
c.3017A>T (p.His1006Leu)
c.3152A>T (p.His1051Leu)
c.3158A>T (p.His1053Leu)
c.3074A>T (p.His1025Leu)
c.3059A>T (p.His1020Leu)
c.3002A>T (p.His1001Leu)
c.2936A>T (p.His979Leu)
c.2297A>T (p.His766Leu)
c.2915A>T (p.His972Leu)
 ClinVar

Number of alleles fetched