| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137813421_137813423delinsCCT | CA1884685879 | EHMT1 | c.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=) | |
| 9 | g.137813422C>A | CA468161417 | EHMT1 | c.3072C>A (p.Pro1024=) c.2979C>A (p.Pro993=) c.3112C>A (n.3112C>A) c.966C>A (p.Pro322=) c.1929C>A (p.Pro643=) c.759C>A n.598C>A c.3063C>A (p.Pro1021=) c.3054C>A (p.Pro1018=) c.3081C>A (p.Pro1027=) c.3078C>A (p.Pro1026=) c.3060C>A (p.Pro1020=) c.3003C>A (p.Pro1001=) c.2937C>A (p.Pro979=) c.1503C>A (p.Pro501=) c.855C>A (p.Pro285=) c.642C>A (p.Pro214=) c.2916C>A (p.Pro972=) c.3051C>A (p.Pro1017=) c.3057C>A (p.Pro1019=) c.2973C>A (p.Pro991=) c.2958C>A (p.Pro986=) c.2901C>A (p.Pro967=) c.2835C>A (p.Pro945=) c.2196C>A (p.Pro732=) c.2814C>A (p.Pro938=) | |
| 9 | g.137813422C= | CA1884685880 | EHMT1 | c.3072C= (p.Pro1024=) c.2979C= (p.Pro993=) c.3112C= (n.3112C=) c.966C= (p.Pro322=) c.1929C= (p.Pro643=) c.759C= n.598C= c.3063C= (p.Pro1021=) c.3054C= (p.Pro1018=) c.3081C= (p.Pro1027=) c.3078C= (p.Pro1026=) c.3060C= (p.Pro1020=) c.3003C= (p.Pro1001=) c.2937C= (p.Pro979=) c.1503C= (p.Pro501=) c.855C= (p.Pro285=) c.642C= (p.Pro214=) c.2916C= (p.Pro972=) c.3051C= (p.Pro1017=) c.3057C= (p.Pro1019=) c.2973C= (p.Pro991=) c.2958C= (p.Pro986=) c.2901C= (p.Pro967=) c.2835C= (p.Pro945=) c.2196C= (p.Pro732=) c.2814C= (p.Pro938=) | |
| 9 | g.137813422C>G | CA468161418 | EHMT1 | c.3072C>G (p.Pro1024=) c.2979C>G (p.Pro993=) c.3112C>G (n.3112C>G) c.966C>G (p.Pro322=) c.1929C>G (p.Pro643=) c.759C>G n.598C>G c.3063C>G (p.Pro1021=) c.3054C>G (p.Pro1018=) c.3081C>G (p.Pro1027=) c.3078C>G (p.Pro1026=) c.3060C>G (p.Pro1020=) c.3003C>G (p.Pro1001=) c.2937C>G (p.Pro979=) c.1503C>G (p.Pro501=) c.855C>G (p.Pro285=) c.642C>G (p.Pro214=) c.2916C>G (p.Pro972=) c.3051C>G (p.Pro1017=) c.3057C>G (p.Pro1019=) c.2973C>G (p.Pro991=) c.2958C>G (p.Pro986=) c.2901C>G (p.Pro967=) c.2835C>G (p.Pro945=) c.2196C>G (p.Pro732=) c.2814C>G (p.Pro938=) | |
| 9 | g.137813422C>T | CA5375160 | EHMT1 | c.3072C>T (p.Pro1024=) c.2979C>T (p.Pro993=) c.3112C>T (n.3112C>T) c.966C>T (p.Pro322=) c.1929C>T (p.Pro643=) c.759C>T n.598C>T c.3063C>T (p.Pro1021=) c.3054C>T (p.Pro1018=) c.3081C>T (p.Pro1027=) c.3078C>T (p.Pro1026=) c.3060C>T (p.Pro1020=) c.3003C>T (p.Pro1001=) c.2937C>T (p.Pro979=) c.1503C>T (p.Pro501=) c.855C>T (p.Pro285=) c.642C>T (p.Pro214=) c.2916C>T (p.Pro972=) c.3051C>T (p.Pro1017=) c.3057C>T (p.Pro1019=) c.2973C>T (p.Pro991=) c.2958C>T (p.Pro986=) c.2901C>T (p.Pro967=) c.2835C>T (p.Pro945=) c.2196C>T (p.Pro732=) c.2814C>T (p.Pro938=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813422_137813423del | CA645294057 | EHMT1 | c.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 |
| 9 | g.137813423T>A | CA375793954 | EHMT1 | c.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) | |
| 9 | g.137813423T>C | CA375793957 | EHMT1 | c.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) | |
| 9 | g.137813423T>G | CA375793958 | EHMT1 | c.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) | |
| 9 | g.137813424G>A | CA375793960 | EHMT1 | c.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) | |
| 9 | g.137813424G>C | CA5375161 | EHMT1 | c.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 |
| 9 | g.137813424G= | CA1884685881 | EHMT1 | c.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=) | |
| 9 | g.137813424G>T | CA375793959 | EHMT1 | c.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) | |
| 9 | g.137813425T>A | CA375793961 | EHMT1 | c.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) | |
| 9 | g.137813425T>C | CA468161419 | EHMT1 | c.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 |
| 9 | g.137813425T>G | CA375793962 | EHMT1 | c.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) | |
| 9 | g.137813426G>A | CA375793964 | EHMT1 | c.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) | |
| 9 | g.137813426G>C | CA375793966 | EHMT1 | c.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) | |
| 9 | g.137813426G>T | CA375793969 | EHMT1 | c.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) | |
| 9 | g.137813427T>A | CA375793974 | EHMT1 | c.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) | |
| 9 | g.137813427T>C | CA375793972 | EHMT1 | c.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) | |
| 9 | g.137813427T>G | CA375793971 | EHMT1 | c.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 |
| 9 | g.137813427T= | CA1884685882 | EHMT1 | c.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=) | |
| 9 | g.137813428C>A | CA468161420 | EHMT1 | c.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=) | |
| 9 | g.137813428C= | CA1884685883 | EHMT1 | c.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=) | |
| 9 | g.137813428C>G | CA468161421 | EHMT1 | c.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=) | |
| 9 | g.137813428C>T | CA468161422 | EHMT1 | c.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 |
| 9 | g.137813429A>C | CA375793976 | EHMT1 | c.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) | |
| 9 | g.137813429A>G | CA375793979 | EHMT1 | c.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) | |
| 9 | g.137813429A>T | CA375793982 | EHMT1 | c.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) | |
| 9 | g.137813430A= | CA1884685884 | EHMT1 | c.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=) | |
| 9 | g.137813430A>C | CA375793983 | EHMT1 | c.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) | |
| 9 | g.137813430A>G | CA375793985 | EHMT1 | c.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 |
| 9 | g.137813430A>T | CA375793988 | EHMT1 | c.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) | |
| 9 | g.137813431C>A | CA375793992 | EHMT1 | c.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) | |
| 9 | g.137813431C= | CA1884685885 | EHMT1 | c.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=) | |
| 9 | g.137813431C>G | CA375793991 | EHMT1 | c.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) | |
| 9 | g.137813431C>T | CA242094 | EHMT1 | c.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 |
| 9 | g.137813432G>A | CA5375162 | EHMT1 | c.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 |
| 9 | g.137813432G>C | CA375793997 | EHMT1 | c.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) | |
| 9 | g.137813432G= | CA1884685886 | EHMT1 | c.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=) | |
| 9 | g.137813432G>T | CA375793998 | EHMT1 | c.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 |
| 9 | g.137813433C>A | CA375794000 | EHMT1 | c.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) | |
| 9 | g.137813433C>G | CA375794002 | EHMT1 | c.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) | |
| 9 | g.137813433C>T | CA375794005 | EHMT1 | c.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 |
| 9 | g.137813434C>A | CA468161423 | EHMT1 | c.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=) | |
| 9 | g.137813434C= | CA1884685887 | EHMT1 | c.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=) | |
| 9 | g.137813434C>G | CA468161424 | EHMT1 | c.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 |
| 9 | g.137813434C>T | CA468161425 | EHMT1 | c.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 |
| 9 | g.137813435G>A | CA201843708 | EHMT1 | c.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 |