Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
9 | g.137813435G>C | CA375794006 | EHMT1 | c.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) | |
9 | g.137813435G= | CA1884685888 | EHMT1 | c.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=) | |
9 | g.137813435G>T | CA375794009 | EHMT1 | c.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 |
9 | g.137813436T>A | CA375794012 | EHMT1 | c.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) | |
9 | g.137813436T>C | CA375794013 | EHMT1 | c.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) | |
9 | g.137813436T>G | CA375794014 | EHMT1 | c.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) | |
9 | g.137813437G>A | CA152702 | EHMT1 | c.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 |
9 | g.137813437G>C | CA468161427 | EHMT1 | c.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 |
9 | g.137813437G= | CA1884685889 | EHMT1 | c.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=) | |
9 | g.137813437G>T | CA468161426 | EHMT1 | c.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 |
9 | g.137813438G>A | CA375794017 | EHMT1 | c.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) | |
9 | g.137813438G>C | CA375794015 | EHMT1 | c.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) | |
9 | g.137813438G>T | CA375794016 | EHMT1 | c.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) | |
9 | g.137813439A>C | CA375794018 | EHMT1 | c.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) | |
9 | g.137813439A>G | CA375794020 | EHMT1 | c.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) | |
9 | g.137813439A>T | CA375794022 | EHMT1 | c.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) | |
9 | g.137813440C>A | CA375794026 | EHMT1 | c.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) | |
9 | g.137813440C>G | CA375794028 | EHMT1 | c.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) | |
9 | g.137813440C>T | CA468161428 | EHMT1 | c.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=) | |
9 | g.137813441A>C | CA375794038 | EHMT1 | c.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) | |
9 | g.137813441A>G | CA375794036 | EHMT1 | c.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) | |
9 | g.137813441A>T | CA375794033 | EHMT1 | c.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) | |
9 | g.137813442G>A | CA375794041 | EHMT1 | c.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 |
9 | g.137813442G>C | CA375794043 | EHMT1 | c.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) | |
9 | g.137813442G>T | CA375794044 | EHMT1 | c.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 |
9 | g.137813443C>A | CA375794047 | EHMT1 | c.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) | |
9 | g.137813443C= | CA1884685890 | EHMT1 | c.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=) | |
9 | g.137813443C>G | CA375794050 | EHMT1 | c.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 |
9 | g.137813443C>T | CA5375163 | EHMT1 | c.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 |
9 | g.137813444G>A | CA5375164 | EHMT1 | c.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 |
9 | g.137813444G>C | CA375794053 | EHMT1 | c.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) | |
9 | g.137813444G= | CA1884685891 | EHMT1 | c.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=) | |
9 | g.137813444G>T | CA375794062 | EHMT1 | c.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) | |
9 | g.137813445A>C | CA375794065 | EHMT1 | c.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) | |
9 | g.137813445A>G | CA375794066 | EHMT1 | c.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 |
9 | g.137813445A>T | CA375794068 | EHMT1 | c.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) | |
9 | g.137813446G>A | CA5375165 | EHMT1 | c.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 |
9 | g.137813446G>C | CA375794072 | EHMT1 | c.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) | |
9 | g.137813446G= | CA1884685892 | EHMT1 | c.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=) | |
9 | g.137813446G>T | CA375794075 | EHMT1 | c.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 |
9 | g.137813447C>A | CA375794078 | EHMT1 | c.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) | |
9 | g.137813447C>G | CA375794080 | EHMT1 | c.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) | |
9 | g.137813447C>T | CA375794082 | EHMT1 | c.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) | |
9 | g.137813448C>A | CA375794083 | EHMT1 | c.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) | |
9 | g.137813448C>G | CA375794084 | EHMT1 | c.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) | |
9 | g.137813448C>T | CA375794086 | EHMT1 | c.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) | |
9 | g.137813449A>C | CA468161429 | EHMT1 | c.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=) | |
9 | g.137813449A>G | CA468161430 | EHMT1 | c.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 |
9 | g.137813449A>T | CA468161431 | EHMT1 | c.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=) | |
9 | g.137813450T>A | CA375794092 | EHMT1 | c.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) | |
9 | g.137813450T>C | CA375794089 | EHMT1 | c.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 |
9 | g.137813450T>G | CA375794091 | EHMT1 | c.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) | |
9 | g.137813450T= | CA1884685893 | EHMT1 | c.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=) | |
9 | g.137813451G>A | CA375794094 | EHMT1 | c.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) | |
9 | g.137813451G>C | CA375794100 | EHMT1 | c.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) | |
9 | g.137813451G>T | CA375794097 | EHMT1 | c.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 |
9 | g.137813452C>A | CA375794102 | EHMT1 | c.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) | |
9 | g.137813452C= | CA1884685894 | EHMT1 | c.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=) | |
9 | g.137813452C>G | CA375794104 | EHMT1 | c.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) | |
9 | g.137813452C>T | CA468161432 | EHMT1 | c.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 |
9 | g.137813455del | CA2842411110 | EHMT1 | c.3105del (p.Ser1036AlafsTer11) c.3012del (p.Ser1005AlafsTer11) c.3145del (n.3145del) c.999del (p.Ser334AlafsTer11) c.1962del (p.Ser655AlafsTer11) n.631del c.3096del (p.Ser1033AlafsTer11) c.3087del (p.Ser1030AlafsTer11) c.3114del (p.Ser1039AlafsTer11) c.3111del (p.Ser1038AlafsTer11) c.3093del (p.Ser1032AlafsTer11) c.3036del (p.Ser1013AlafsTer11) c.2970del (p.Ser991AlafsTer11) c.1536del (p.Ser513AlafsTer11) c.888del (p.Ser297AlafsTer11) c.675del (p.Ser226AlafsTer11) c.2949del (p.Ser984AlafsTer11) c.3084del (p.Ser1029AlafsTer11) c.3090del (p.Ser1031AlafsTer11) c.3006del (p.Ser1003AlafsTer11) c.2991del (p.Ser998AlafsTer11) c.2934del (p.Ser979AlafsTer11) c.2868del (p.Ser957AlafsTer11) c.2229del (p.Ser744AlafsTer11) c.2847del (p.Ser950AlafsTer11) | |
9 | g.137813453C>A | CA375794108 | EHMT1 | c.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) | |
9 | g.137813453C>G | CA375794109 | EHMT1 | c.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) | |
9 | g.137813453C>T | CA375794111 | EHMT1 | c.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) | |
9 | g.137813454C>A | CA375794115 | EHMT1 | c.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) | |
9 | g.137813454C= | CA1884685895 | EHMT1 | c.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=) | |
9 | g.137813454C>G | CA375794116 | EHMT1 | c.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) | |
9 | g.137813454C>T | CA375794119 | EHMT1 | c.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 |
9 | g.137813455C>A | CA468161433 | EHMT1 | c.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=) | |
9 | g.137813455C= | CA1884685896 | EHMT1 | c.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=) | |
9 | g.137813455C>G | CA468161434 | EHMT1 | c.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=) | |
9 | g.137813455C>T | CA5375166 | EHMT1 | c.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 |
9 | g.137813456A= | CA1884685897 | EHMT1 | c.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=) | |
9 | g.137813456A>C | CA375794143 | EHMT1 | c.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 |
9 | g.137813456A>G | CA375794144 | EHMT1 | c.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 |
9 | g.137813456A>T | CA375794145 | EHMT1 | c.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) | |
9 | g.137813457G>A | CA375794146 | EHMT1 | c.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) | |
9 | g.137813457G>C | CA375794150 | EHMT1 | c.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) | |
9 | g.137813457G= | CA1884685898 | EHMT1 | c.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=) | |
9 | g.137813457G>T | CA5375167 | EHMT1 | c.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 |
9 | g.137813458C>A | CA375794154 | EHMT1 | c.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) | |
9 | g.137813458C= | CA1884685899 | EHMT1 | c.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=) | |
9 | g.137813458C>G | CA375794157 | EHMT1 | c.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 |
9 | g.137813458C>T | CA468161435 | EHMT1 | c.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=) | |
9 | g.137813459A>C | CA375794158 | EHMT1 | c.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) | |
9 | g.137813459A>G | CA375794161 | EHMT1 | c.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) | |
9 | g.137813459A>T | CA375794163 | EHMT1 | c.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) | |
9 | g.137813460dup | CA2839041722 | EHMT1 | c.3110dup (p.Asn1037LysfsTer?) c.3017dup (p.Asn1006LysfsTer?) c.3150dup (n.3150dup) c.1004dup (p.Asn335LysfsTer?) c.1967dup (p.Asn656LysfsTer?) n.636dup c.3101dup (p.Asn1034LysfsTer?) c.3092dup (p.Asn1031LysfsTer?) c.3119dup (p.Asn1040LysfsTer?) c.3116dup (p.Asn1039LysfsTer?) c.3098dup (p.Asn1033LysfsTer?) c.3041dup (p.Asn1014LysfsTer?) c.2975dup (p.Asn992LysfsTer?) c.1541dup (p.Asn514LysfsTer?) c.893dup (p.Asn298LysfsTer?) c.680dup (p.Asn227LysfsTer?) c.2954dup (p.Asn985LysfsTer?) c.3089dup (p.Asn1030LysfsTer?) c.3095dup (p.Asn1032LysfsTer?) c.3011dup (p.Asn1004LysfsTer?) c.2996dup (p.Asn999LysfsTer?) c.2939dup (p.Asn980LysfsTer?) c.2873dup (p.Asn958LysfsTer?) c.2234dup (p.Asn745LysfsTer?) c.2852dup (p.Asn951LysfsTer?) | |
9 | g.137813460A>C | CA375794166 | EHMT1 | c.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) | |
9 | g.137813460A>G | CA375794169 | EHMT1 | c.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 |
9 | g.137813460A>T | CA375794172 | EHMT1 | c.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) | |
9 | g.137813461C>A | CA375794176 | EHMT1 | c.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) | |
9 | g.137813461C= | CA1884685900 | EHMT1 | c.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=) | |
9 | g.137813461C>G | CA375794177 | EHMT1 | c.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) | |
9 | g.137813461C>T | CA468161436 | EHMT1 | c.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 |
9 | g.137813462T>A | CA375794186 | EHMT1 | c.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) | |
9 | g.137813462T>C | CA375794183 | EHMT1 | c.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) | |
9 | g.137813462T>G | CA375794181 | EHMT1 | c.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) | |
9 | g.137813463A>C | CA375794195 | EHMT1 | c.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 |
9 | g.137813463A>G | CA375794190 | EHMT1 | c.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) | |
9 | g.137813463A>T | CA375794192 | EHMT1 | c.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) | |
9 | g.137813464C>A | CA375794199 | EHMT1 | c.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) | |
9 | g.137813464C= | CA1884685901 | EHMT1 | c.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=) | |
9 | g.137813464C>G | CA375794212 | EHMT1 | c.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) | |
9 | g.137813464C>T | CA5375168 | EHMT1 | c.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 |
9 | g.137813465A= | CA1884685902 | EHMT1 | c.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=) | |
9 | g.137813465A>C | CA375794217 | EHMT1 | c.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 |
9 | g.137813465A>G | CA375794221 | EHMT1 | c.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) | |
9 | g.137813465A>T | CA375794224 | EHMT1 | c.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) | |
9 | g.137813466A>C | CA375794228 | EHMT1 | c.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) | |
9 | g.137813466A>G | CA375794232 | EHMT1 | c.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) | |
9 | g.137813466A>T | CA375794235 | EHMT1 | c.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) | |
9 | g.137813467G>A | CA468161437 | EHMT1 | c.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=) | |
9 | g.137813467G>C | CA375794238 | EHMT1 | c.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) | |
9 | g.137813467G>T | CA375794242 | EHMT1 | c.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) | |
9 | g.137813468T>A | CA375794260 | EHMT1 | c.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) | |
9 | g.137813468T>C | CA375794249 | EHMT1 | c.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) | |
9 | g.137813468T>G | CA375794259 | EHMT1 | c.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) | |
9 | g.137813469A= | CA1884685903 | EHMT1 | c.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=) | |
9 | g.137813469A>C | CA375794261 | EHMT1 | c.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) | |
9 | g.137813469A>G | CA375794262 | EHMT1 | c.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 |
9 | g.137813469A>T | CA375794265 | EHMT1 | c.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) | |
9 | g.137813470C>A | CA375794267 | EHMT1 | c.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) | |
9 | g.137813470C= | CA1884685904 | EHMT1 | c.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=) | |
9 | g.137813470C>G | CA375794269 | EHMT1 | c.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) | |
9 | g.137813470C>T | CA5375169 | EHMT1 | c.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 |
9 | g.137813471G>A | CA5375170 | EHMT1 | c.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 |
9 | g.137813471G>C | CA375794298 | EHMT1 | c.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) | |
9 | g.137813471G= | CA1884685905 | EHMT1 | c.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=) | |
9 | g.137813471G>T | CA375794306 | EHMT1 | c.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) | |
9 | g.137813471_137813473delinsGTC | CA1884685906 | EHMT1 | c.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=) | |
9 | g.137813472T>A | CA375794309 | EHMT1 | c.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) | |
9 | g.137813472T>C | CA375794311 | EHMT1 | c.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) | |
9 | g.137813472T>G | CA375794316 | EHMT1 | c.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) | |
9 | g.137813476_137813477del | CA658657948 | EHMT1 | c.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 |
9 | g.137813473C>A | CA207991 | EHMT1 | c.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 |
9 | g.137813473C= | CA1884685907 | EHMT1 | c.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=) | |
9 | g.137813473C>G | CA5375172 | EHMT1 | c.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 |
9 | g.137813473C>T | CA5375171 | EHMT1 | c.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 |
9 | g.137813474T>A | CA375794325 | EHMT1 | c.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) | |
9 | g.137813474T>C | CA375794330 | EHMT1 | c.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) | |
9 | g.137813474T>G | CA375794328 | EHMT1 | c.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) | |
9 | g.137813475C>A | CA375794331 | EHMT1 | c.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) | |
9 | g.137813475C= | CA1884685908 | EHMT1 | c.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=) | |
9 | g.137813475C>G | CA375794342 | EHMT1 | c.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 |
9 | g.137813475C>T | CA375794340 | EHMT1 | c.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) | |
9 | g.137813476T>A | CA468161438 | EHMT1 | c.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=) | |
9 | g.137813476T>C | CA468161439 | EHMT1 | c.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=) | |
9 | g.137813476T>G | CA468161440 | EHMT1 | c.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=) | |
9 | g.137813477C>A | CA375794343 | EHMT1 | c.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) | |
9 | g.137813477C= | CA1884685909 | EHMT1 | c.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=) | |
9 | g.137813477C>G | CA375794347 | EHMT1 | c.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) | |
9 | g.137813477C>T | CA16618820 | EHMT1 | c.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 |
9 | g.137813478A>C | CA375794358 | EHMT1 | c.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) | |
9 | g.137813478A>G | CA375794361 | EHMT1 | c.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 |
9 | g.137813478A>T | CA375794362 | EHMT1 | c.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) | |
9 | g.137813479G>A | CA468161441 | EHMT1 | c.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=) | |
9 | g.137813479G>C | CA375794367 | EHMT1 | c.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) | |
9 | g.137813479G>T | CA375794370 | EHMT1 | c.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) | |
9 | g.137813480A>C | CA375794372 | EHMT1 | c.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) | |
9 | g.137813480A>G | CA375794374 | EHMT1 | c.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) | |
9 | g.137813480A>T | CA375794377 | EHMT1 | c.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) | |
9 | g.137813481A>C | CA375794380 | EHMT1 | c.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) | |
9 | g.137813481A>G | CA375794382 | EHMT1 | c.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) | |
9 | g.137813481A>T | CA375794384 | EHMT1 | c.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) | |
9 | g.137813482C>A | CA375794385 | EHMT1 | c.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) | |
9 | g.137813482C= | CA1884685910 | EHMT1 | c.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=) | |
9 | g.137813482C>G | CA375794386 | EHMT1 | c.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) | |
9 | g.137813482C>T | CA468161442 | EHMT1 | c.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 |
9 | g.137813483T>A | CA375794388 | EHMT1 | c.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) | |
9 | g.137813483T>C | CA375794389 | EHMT1 | c.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) | |
9 | g.137813483T>G | CA375794391 | EHMT1 | c.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) | |
9 | g.137813484G>A | CA375794392 | EHMT1 | c.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 |
9 | g.137813484G>C | CA375794394 | EHMT1 | c.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) | |
9 | g.137813484G>T | CA375794397 | EHMT1 | c.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) | |
9 | g.137813485C>A | CA375794400 | EHMT1 | c.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) | |
9 | g.137813485C= | CA1884685911 | EHMT1 | c.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=) | |
9 | g.137813485C>G | CA375794401 | EHMT1 | c.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) | |
9 | g.137813485C>T | CA5375173 | EHMT1 | c.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 |
9 | g.137813486G>A | CA375794405 | EHMT1 | c.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 |
9 | g.137813486G>C | CA375794408 | EHMT1 | c.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) | |
9 | g.137813486G= | CA1884685912 | EHMT1 | c.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=) | |
9 | g.137813486G>T | CA375794410 | EHMT1 | c.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) | |
9 | g.137813487T>A | CA375794412 | EHMT1 | c.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) | |
9 | g.137813487T>C | CA375794417 | EHMT1 | c.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) | |
9 | g.137813487T>G | CA375794414 | EHMT1 | c.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) | |
9 | g.137813488G>A | CA467878168 | EHMT1 | c.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=) | |
9 | g.137813488G>C | CA467878169 | EHMT1 | c.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 |
9 | g.137813488G>T | CA467878170 | EHMT1 | c.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=) | |
9 | g.137813489A>C | CA375794420 | EHMT1 | c.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) | |
9 | g.137813489A>G | CA375794421 | EHMT1 | c.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) | |
9 | g.137813489A>T | CA375794424 | EHMT1 | c.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) | |
9 | g.137813490C>A | CA375794433 | EHMT1 | c.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) | |
9 | g.137813490C= | CA1884685913 | EHMT1 | c.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=) | |
9 | g.137813490C>G | CA5375174 | EHMT1 | c.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 |
9 | g.137813490C>T | CA375794437 | EHMT1 | c.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 |
9 | g.137813491G>A | CA5375175 | EHMT1 | c.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 |
9 | g.137813491G>C | CA467878171 | EHMT1 | c.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=) | |
9 | g.137813491G= | CA1884685914 | EHMT1 | c.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=) | |
9 | g.137813491G>T | CA467878172 | EHMT1 | c.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 |
9 | g.137813492T>A | CA375794442 | EHMT1 | c.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) | |
9 | g.137813492T>C | CA375794444 | EHMT1 | c.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) | |
9 | g.137813492T>G | CA375794446 | EHMT1 | c.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) | |
9 | g.137813493C>A | CA375794449 | EHMT1 | c.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) | |
9 | g.137813493C= | CA1884685915 | EHMT1 | c.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=) | |
9 | g.137813493C>G | CA5375176 | EHMT1 | c.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 |
9 | g.137813493C>T | CA375794453 | EHMT1 | c.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) | |
9 | g.137813497dup | CA2842411111 | EHMT1 | c.3147dup (p.Met1050HisfsTer?) c.3054dup (p.Met1019HisfsTer?) c.3187dup (n.3187dup) c.1041dup (p.Met348HisfsTer?) c.2004dup (p.Met669HisfsTer?) n.7dup n.673dup c.3138dup (p.Met1047HisfsTer?) c.3129dup (p.Met1044HisfsTer?) c.3156dup (p.Met1053HisfsTer?) c.3153dup (p.Met1052HisfsTer?) c.3135dup (p.Met1046HisfsTer?) c.3078dup (p.Met1027HisfsTer?) c.3012dup (p.Met1005HisfsTer?) c.1578dup (p.Met527HisfsTer?) c.930dup (p.Met311HisfsTer?) c.717dup (p.Met240HisfsTer?) c.2991dup (p.Met998HisfsTer?) c.3126dup (p.Met1043HisfsTer?) c.3132dup (p.Met1045HisfsTer?) c.3048dup (p.Met1017HisfsTer?) c.3033dup (p.Met1012HisfsTer?) c.2976dup (p.Met993HisfsTer?) c.2910dup (p.Met971HisfsTer?) c.2271dup (p.Met758HisfsTer?) c.2889dup (p.Met964HisfsTer?) | |
9 | g.137813497del | CA2839041688 | EHMT1 | c.3147del (p.Met1050Ter) c.3054del (p.Met1019Ter) c.3187del (n.3187del) c.1041del (p.Met348Ter) c.2004del (p.Met669Ter) n.7del n.673del c.3138del (p.Met1047Ter) c.3129del (p.Met1044Ter) c.3156del (p.Met1053Ter) c.3153del (p.Met1052Ter) c.3135del (p.Met1046Ter) c.3078del (p.Met1027Ter) c.3012del (p.Met1005Ter) c.1578del (p.Met527Ter) c.930del (p.Met311Ter) c.717del (p.Met240Ter) c.2991del (p.Met998Ter) c.3126del (p.Met1043Ter) c.3132del (p.Met1045Ter) c.3048del (p.Met1017Ter) c.3033del (p.Met1012Ter) c.2976del (p.Met993Ter) c.2910del (p.Met971Ter) c.2271del (p.Met758Ter) c.2889del (p.Met964Ter) | |
9 | g.137813494C>A | CA467878173 | EHMT1 | c.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=) | |
9 | g.137813494C= | CA1884685916 | EHMT1 | c.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=) | |
9 | g.137813494C>G | CA467878174 | EHMT1 | c.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=) | |
9 | g.137813494C>T | CA201843824 | EHMT1 | c.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 |
9 | g.137813495C>A | CA375794458 | EHMT1 | c.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) | |
9 | g.137813495C>G | CA375794462 | EHMT1 | c.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 |
9 | g.137813495C>T | CA375794460 | EHMT1 | c.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 |
9 | g.137813496C>A | CA375794465 | EHMT1 | c.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) | |
9 | g.137813496C>G | CA375794468 | EHMT1 | c.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) | |
9 | g.137813496C>T | CA375794469 | EHMT1 | c.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) | |
9 | g.137813497C>A | CA467878175 | EHMT1 | c.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=) | |
9 | g.137813497C>G | CA467878176 | EHMT1 | c.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 |
9 | g.137813497C>T | CA467878177 | EHMT1 | c.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=) | |
9 | g.137813498A= | CA1884685917 | EHMT1 | c.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=) | |
9 | g.137813498A>C | CA375794471 | EHMT1 | c.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) | |
9 | g.137813498A>G | CA375794474 | EHMT1 | c.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 |
9 | g.137813498A>T | CA375794475 | EHMT1 | c.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) | |
9 | g.137813499T>A | CA375794477 | EHMT1 | c.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) | |
9 | g.137813499T>C | CA375794478 | EHMT1 | c.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) | |
9 | g.137813499T>G | CA375794479 | EHMT1 | c.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) | |
9 | g.137813500G>A | CA375794485 | EHMT1 | c.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) | |
9 | g.137813500G>C | CA375794482 | EHMT1 | c.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) | |
9 | g.137813500G>T | CA375794480 | EHMT1 | c.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) | |
9 | g.137813501A>C | CA375794487 | EHMT1 | c.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) | |
9 | g.137813501A>G | CA375794493 | EHMT1 | c.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) | |
9 | g.137813501A>T | CA375794490 | EHMT1 | c.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) | |
9 | g.137813502A>C | CA375794494 | EHMT1 | c.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) | |
9 | g.137813502A>G | CA375794501 | EHMT1 | c.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) | |
9 | g.137813502A>T | CA375794503 | EHMT1 | c.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) | |
9 | g.137813503C>A | CA375794506 | EHMT1 | c.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) | |
9 | g.137813503C= | CA1884685918 | EHMT1 | c.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=) | |
9 | g.137813503C>G | CA375794509 | EHMT1 | c.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) | |
9 | g.137813503C>T | CA467878179 | EHMT1 | c.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 |
9 | g.137813504A= | CA1884685919 | EHMT1 | c.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=) | |
9 | g.137813504A>C | CA375794514 | EHMT1 | c.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) | |
9 | g.137813504A>G | CA5375177 | EHMT1 | c.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 |
9 | g.137813504A>T | CA375794518 | EHMT1 | c.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) | |
9 | g.137813505T>A | CA375794522 | EHMT1 | c.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) | |
9 | g.137813505T>C | CA375794525 | EHMT1 | c.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) | |
9 | g.137813505T>G | CA375794526 | EHMT1 | c.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) | |
9 | g.137813506C>A | CA467878180 | EHMT1 | c.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=) | |
9 | g.137813506C= | CA1884685920 | EHMT1 | c.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=) | |
9 | g.137813506C>G | CA375794529 | EHMT1 | c.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 |
9 | g.137813506C>T | CA5375178 | EHMT1 | c.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 |
9 | g.137813507G>A | CA5375179 | EHMT1 | c.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 |
9 | g.137813507G>C | CA375794534 | EHMT1 | c.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) | |
9 | g.137813507G= | CA1884685921 | EHMT1 | c.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=) | |
9 | g.137813507G>T | CA201843834 | EHMT1 | c.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 |
9 | g.137813508A>C | CA375794535 | EHMT1 | c.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) | |
9 | g.137813508A>G | CA375794537 | EHMT1 | c.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) | |
9 | g.137813508A>T | CA375794538 | EHMT1 | c.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) | |
9 | g.137813509C>A | CA375794540 | EHMT1 | c.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) | |
9 | g.137813509C>G | CA375794542 | EHMT1 | c.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) | |
9 | g.137813509C>T | CA467878181 | EHMT1 | c.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=) | |
9 | g.137813510A>C | CA467878182 | EHMT1 | c.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=) | |
9 | g.137813510A>G | CA375794545 | EHMT1 | c.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) | |
9 | g.137813510A>T | CA375794546 | EHMT1 | c.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) | |
9 | g.137813511G>A | CA375794549 | EHMT1 | c.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 |
9 | g.137813511G>C | CA375794551 | EHMT1 | c.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) | |
9 | g.137813511G>T | CA375794553 | EHMT1 | c.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) | |
9 | g.137813512A>C | CA375794554 | EHMT1 | c.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) | |
9 | g.137813512A>G | CA467878183 | EHMT1 | c.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=) | |
9 | g.137813512A>T | CA375794555 | EHMT1 | c.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) | |
9 | g.137813513_137813514del | CA2695211838 | EHMT1 | c.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?) | |
9 | g.137813513A>C | CA375794557 | EHMT1 | c.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) | |
9 | g.137813513A>G | CA375794563 | EHMT1 | c.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) | |
9 | g.137813513A>T | CA375794564 | EHMT1 | c.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) | |
9 | g.137813514A>C | CA375794566 | EHMT1 | c.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) | |
9 | g.137813514A>G | CA375794568 | EHMT1 | c.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) | |
9 | g.137813514A>T | CA375794569 | EHMT1 | c.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) | |
9 | g.137813515T>A | CA375794572 | EHMT1 | c.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) | |
9 | g.137813515T>C | CA467878184 | EHMT1 | c.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 |
9 | g.137813515T>G | CA375794574 | EHMT1 | c.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) | |
9 | g.137813516A>C | CA375794578 | EHMT1 | c.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) | |
9 | g.137813516A>G | CA375794579 | EHMT1 | c.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) | |
9 | g.137813516A>T | CA375794582 | EHMT1 | c.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) | |
9 | g.137813517T>A | CA375794586 | EHMT1 | c.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) | |
9 | g.137813517T>C | CA375794588 | EHMT1 | c.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) | |
9 | g.137813517T>G | CA375794592 | EHMT1 | c.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) | |
9 | g.137813518C>A | CA467878185 | EHMT1 | c.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=) | |
9 | g.137813518C= | CA1884685922 | EHMT1 | c.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=) | |
9 | g.137813518C>G | CA375794595 | EHMT1 | c.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) | |
9 | g.137813518C>T | CA5375180 | EHMT1 | c.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 |
9 | g.137813519A>C | CA375794600 | EHMT1 | c.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) | |
9 | g.137813519A>G | CA375794602 | EHMT1 | c.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) | |
9 | g.137813519A>T | CA375794606 | EHMT1 | c.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) | |
9 | g.137813520C>A | CA375794609 | EHMT1 | c.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) | |
9 | g.137813520C= | CA1884685923 | EHMT1 | c.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=) | |
9 | g.137813520C>G | CA375794612 | EHMT1 | c.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 |
9 | g.137813520C>T | CA375794614 | EHMT1 | c.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 |
9 | g.137813521T>A | CA467878186 | EHMT1 | c.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=) | |
9 | g.137813521T>C | CA467878187 | EHMT1 | c.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=) | |
9 | g.137813521T>G | CA467878188 | EHMT1 | c.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=) | |
9 | g.137813522C>A | CA375794615 | EHMT1 | c.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) | |
9 | g.137813522C>G | CA375794616 | EHMT1 | c.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) | |
9 | g.137813522C>T | CA375794617 | EHMT1 | c.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 |
9 | g.137813523A>C | CA375794618 | EHMT1 | c.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) | |
9 | g.137813523A>G | CA375794619 | EHMT1 | c.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 |
9 | g.137813523A>T | CA375794620 | EHMT1 | c.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 |
9 | g.137813524T>A | CA375794623 | EHMT1 | c.3174T>A (p.His1058Gln) c.3081T>A (p.His1027Gln) c.3214T>A (n.3214T>A) c.1068T>A (p.His356Gln) c.2031T>A (p.His677Gln) n.34T>A n.700T>A c.3165T>A (p.His1055Gln) c.3156T>A (p.His1052Gln) c.3183T>A (p.His1061Gln) c.3180T>A (p.His1060Gln) c.3162T>A (p.His1054Gln) c.3105T>A (p.His1035Gln) c.3039T>A (p.His1013Gln) c.1605T>A (p.His535Gln) c.957T>A (p.His319Gln) c.744T>A (p.His248Gln) c.3018T>A (p.His1006Gln) c.3153T>A (p.His1051Gln) c.3159T>A (p.His1053Gln) c.3075T>A (p.His1025Gln) c.3060T>A (p.His1020Gln) c.3003T>A (p.His1001Gln) c.2937T>A (p.His979Gln) c.2298T>A (p.His766Gln) c.2916T>A (p.His972Gln) | |
9 | g.137813524T>C | CA5375181 | EHMT1 | c.3174T>C (p.His1058=) c.3081T>C (p.His1027=) c.3214T>C (n.3214T>C) c.1068T>C (p.His356=) c.2031T>C (p.His677=) n.34T>C n.700T>C c.3165T>C (p.His1055=) c.3156T>C (p.His1052=) c.3183T>C (p.His1061=) c.3180T>C (p.His1060=) c.3162T>C (p.His1054=) c.3105T>C (p.His1035=) c.3039T>C (p.His1013=) c.1605T>C (p.His535=) c.957T>C (p.His319=) c.744T>C (p.His248=) c.3018T>C (p.His1006=) c.3153T>C (p.His1051=) c.3159T>C (p.His1053=) c.3075T>C (p.His1025=) c.3060T>C (p.His1020=) c.3003T>C (p.His1001=) c.2937T>C (p.His979=) c.2298T>C (p.His766=) c.2916T>C (p.His972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137813524T>G | CA375794622 | EHMT1 | c.3174T>G (p.His1058Gln) c.3081T>G (p.His1027Gln) c.3214T>G (n.3214T>G) c.1068T>G (p.His356Gln) c.2031T>G (p.His677Gln) n.34T>G n.700T>G c.3165T>G (p.His1055Gln) c.3156T>G (p.His1052Gln) c.3183T>G (p.His1061Gln) c.3180T>G (p.His1060Gln) c.3162T>G (p.His1054Gln) c.3105T>G (p.His1035Gln) c.3039T>G (p.His1013Gln) c.1605T>G (p.His535Gln) c.957T>G (p.His319Gln) c.744T>G (p.His248Gln) c.3018T>G (p.His1006Gln) c.3153T>G (p.His1051Gln) c.3159T>G (p.His1053Gln) c.3075T>G (p.His1025Gln) c.3060T>G (p.His1020Gln) c.3003T>G (p.His1001Gln) c.2937T>G (p.His979Gln) c.2298T>G (p.His766Gln) c.2916T>G (p.His972Gln) | |
9 | g.137813524T= | CA1884685924 | EHMT1 | c.3174T= (p.His1058=) c.3081T= (p.His1027=) c.3214T= (n.3214T=) c.1068T= (p.His356=) c.2031T= (p.His677=) n.34T= n.700T= c.3165T= (p.His1055=) c.3156T= (p.His1052=) c.3183T= (p.His1061=) c.3180T= (p.His1060=) c.3162T= (p.His1054=) c.3105T= (p.His1035=) c.3039T= (p.His1013=) c.1605T= (p.His535=) c.957T= (p.His319=) c.744T= (p.His248=) c.3018T= (p.His1006=) c.3153T= (p.His1051=) c.3159T= (p.His1053=) c.3075T= (p.His1025=) c.3060T= (p.His1020=) c.3003T= (p.His1001=) c.2937T= (p.His979=) c.2298T= (p.His766=) c.2916T= (p.His972=) | |
9 | g.137813524_137813525delinsCG | CA1139661369 | EHMT1 | c.3174_3175delinsCG (p.Leu1059Val) c.3081_3082delinsCG (p.Leu1028Val) c.3214_3215delinsCG (n.3214_3215delinsCG) c.1068_1069delinsCG (p.Leu357Val) c.2031_2032delinsCG (p.Leu678Val) n.34_35delinsCG n.700_701delinsCG c.3165_3166delinsCG (p.Leu1056Val) c.3156_3157delinsCG (p.Leu1053Val) c.3183_3184delinsCG (p.Leu1062Val) c.3180_3181delinsCG (p.Leu1061Val) c.3162_3163delinsCG (p.Leu1055Val) c.3105_3106delinsCG (p.Leu1036Val) c.3039_3040delinsCG (p.Leu1014Val) c.1605_1606delinsCG (p.Leu536Val) c.957_958delinsCG (p.Leu320Val) c.744_745delinsCG (p.Leu249Val) c.3018_3019delinsCG (p.Leu1007Val) c.3153_3154delinsCG (p.Leu1052Val) c.3159_3160delinsCG (p.Leu1054Val) c.3075_3076delinsCG (p.Leu1026Val) c.3060_3061delinsCG (p.Leu1021Val) c.3003_3004delinsCG (p.Leu1002Val) c.2937_2938delinsCG (p.Leu980Val) c.2298_2299delinsCG (p.Leu767Val) c.2916_2917delinsCG (p.Leu973Val) | ClinVar dbSNP |
9 | g.137813524_137813525delinsTC | CA1884685925 | EHMT1 | c.3174_3175delinsTC (p.His1058=) c.3081_3082delinsTC (p.His1027=) c.3214_3215delinsTC (n.3214_3215delinsTC) c.1068_1069delinsTC (p.His356=) c.2031_2032delinsTC (p.His677=) n.34_35delinsTC n.700_701delinsTC c.3165_3166delinsTC (p.His1055=) c.3156_3157delinsTC (p.His1052=) c.3183_3184delinsTC (p.His1061=) c.3180_3181delinsTC (p.His1060=) c.3162_3163delinsTC (p.His1054=) c.3105_3106delinsTC (p.His1035=) c.3039_3040delinsTC (p.His1013=) c.1605_1606delinsTC (p.His535=) c.957_958delinsTC (p.His319=) c.744_745delinsTC (p.His248=) c.3018_3019delinsTC (p.His1006=) c.3153_3154delinsTC (p.His1051=) c.3159_3160delinsTC (p.His1053=) c.3075_3076delinsTC (p.His1025=) c.3060_3061delinsTC (p.His1020=) c.3003_3004delinsTC (p.His1001=) c.2937_2938delinsTC (p.His979=) c.2298_2299delinsTC (p.His766=) c.2916_2917delinsTC (p.His972=) | |
9 | g.137813525C>A | CA375794627 | EHMT1 | c.3175C>A (p.Leu1059Met) c.3082C>A (p.Leu1028Met) c.3215C>A (n.3215C>A) c.1069C>A (p.Leu357Met) c.2032C>A (p.Leu678Met) n.35C>A n.701C>A c.3166C>A (p.Leu1056Met) c.3157C>A (p.Leu1053Met) c.3184C>A (p.Leu1062Met) c.3181C>A (p.Leu1061Met) c.3163C>A (p.Leu1055Met) c.3106C>A (p.Leu1036Met) c.3040C>A (p.Leu1014Met) c.1606C>A (p.Leu536Met) c.958C>A (p.Leu320Met) c.745C>A (p.Leu249Met) c.3019C>A (p.Leu1007Met) c.3154C>A (p.Leu1052Met) c.3160C>A (p.Leu1054Met) c.3076C>A (p.Leu1026Met) c.3061C>A (p.Leu1021Met) c.3004C>A (p.Leu1002Met) c.2938C>A (p.Leu980Met) c.2299C>A (p.Leu767Met) c.2917C>A (p.Leu973Met) | |
9 | g.137813525C= | CA1884685926 | EHMT1 | c.3175C= (p.Leu1059=) c.3082C= (p.Leu1028=) c.3215C= (n.3215C=) c.1069C= (p.Leu357=) c.2032C= (p.Leu678=) n.35C= n.701C= c.3166C= (p.Leu1056=) c.3157C= (p.Leu1053=) c.3184C= (p.Leu1062=) c.3181C= (p.Leu1061=) c.3163C= (p.Leu1055=) c.3106C= (p.Leu1036=) c.3040C= (p.Leu1014=) c.1606C= (p.Leu536=) c.958C= (p.Leu320=) c.745C= (p.Leu249=) c.3019C= (p.Leu1007=) c.3154C= (p.Leu1052=) c.3160C= (p.Leu1054=) c.3076C= (p.Leu1026=) c.3061C= (p.Leu1021=) c.3004C= (p.Leu1002=) c.2938C= (p.Leu980=) c.2299C= (p.Leu767=) c.2917C= (p.Leu973=) | |
9 | g.137813525C>G | CA375794625 | EHMT1 | c.3175C>G (p.Leu1059Val) c.3082C>G (p.Leu1028Val) c.3215C>G (n.3215C>G) c.1069C>G (p.Leu357Val) c.2032C>G (p.Leu678Val) n.35C>G n.701C>G c.3166C>G (p.Leu1056Val) c.3157C>G (p.Leu1053Val) c.3184C>G (p.Leu1062Val) c.3181C>G (p.Leu1061Val) c.3163C>G (p.Leu1055Val) c.3106C>G (p.Leu1036Val) c.3040C>G (p.Leu1014Val) c.1606C>G (p.Leu536Val) c.958C>G (p.Leu320Val) c.745C>G (p.Leu249Val) c.3019C>G (p.Leu1007Val) c.3154C>G (p.Leu1052Val) c.3160C>G (p.Leu1054Val) c.3076C>G (p.Leu1026Val) c.3061C>G (p.Leu1021Val) c.3004C>G (p.Leu1002Val) c.2938C>G (p.Leu980Val) c.2299C>G (p.Leu767Val) c.2917C>G (p.Leu973Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137813525C>T | CA467878189 | EHMT1 | c.3175C>T (p.Leu1059=) c.3082C>T (p.Leu1028=) c.3215C>T (n.3215C>T) c.1069C>T (p.Leu357=) c.2032C>T (p.Leu678=) n.35C>T n.701C>T c.3166C>T (p.Leu1056=) c.3157C>T (p.Leu1053=) c.3184C>T (p.Leu1062=) c.3181C>T (p.Leu1061=) c.3163C>T (p.Leu1055=) c.3106C>T (p.Leu1036=) c.3040C>T (p.Leu1014=) c.1606C>T (p.Leu536=) c.958C>T (p.Leu320=) c.745C>T (p.Leu249=) c.3019C>T (p.Leu1007=) c.3154C>T (p.Leu1052=) c.3160C>T (p.Leu1054=) c.3076C>T (p.Leu1026=) c.3061C>T (p.Leu1021=) c.3004C>T (p.Leu1002=) c.2938C>T (p.Leu980=) c.2299C>T (p.Leu767=) c.2917C>T (p.Leu973=) | |
9 | g.137813526T>A | CA375794634 | EHMT1 | c.3176T>A (p.Leu1059Gln) c.3083T>A (p.Leu1028Gln) c.3216T>A (n.3216T>A) c.1070T>A (p.Leu357Gln) c.2033T>A (p.Leu678Gln) n.36T>A n.702T>A c.3167T>A (p.Leu1056Gln) c.3158T>A (p.Leu1053Gln) c.3185T>A (p.Leu1062Gln) c.3182T>A (p.Leu1061Gln) c.3164T>A (p.Leu1055Gln) c.3107T>A (p.Leu1036Gln) c.3041T>A (p.Leu1014Gln) c.1607T>A (p.Leu536Gln) c.959T>A (p.Leu320Gln) c.746T>A (p.Leu249Gln) c.3020T>A (p.Leu1007Gln) c.3155T>A (p.Leu1052Gln) c.3161T>A (p.Leu1054Gln) c.3077T>A (p.Leu1026Gln) c.3062T>A (p.Leu1021Gln) c.3005T>A (p.Leu1002Gln) c.2939T>A (p.Leu980Gln) c.2300T>A (p.Leu767Gln) c.2918T>A (p.Leu973Gln) | |
9 | g.137813526T>C | CA375794630 | EHMT1 | c.3176T>C (p.Leu1059Pro) c.3083T>C (p.Leu1028Pro) c.3216T>C (n.3216T>C) c.1070T>C (p.Leu357Pro) c.2033T>C (p.Leu678Pro) n.36T>C n.702T>C c.3167T>C (p.Leu1056Pro) c.3158T>C (p.Leu1053Pro) c.3185T>C (p.Leu1062Pro) c.3182T>C (p.Leu1061Pro) c.3164T>C (p.Leu1055Pro) c.3107T>C (p.Leu1036Pro) c.3041T>C (p.Leu1014Pro) c.1607T>C (p.Leu536Pro) c.959T>C (p.Leu320Pro) c.746T>C (p.Leu249Pro) c.3020T>C (p.Leu1007Pro) c.3155T>C (p.Leu1052Pro) c.3161T>C (p.Leu1054Pro) c.3077T>C (p.Leu1026Pro) c.3062T>C (p.Leu1021Pro) c.3005T>C (p.Leu1002Pro) c.2939T>C (p.Leu980Pro) c.2300T>C (p.Leu767Pro) c.2918T>C (p.Leu973Pro) | |
9 | g.137813526T>G | CA375794632 | EHMT1 | c.3176T>G (p.Leu1059Arg) c.3083T>G (p.Leu1028Arg) c.3216T>G (n.3216T>G) c.1070T>G (p.Leu357Arg) c.2033T>G (p.Leu678Arg) n.36T>G n.702T>G c.3167T>G (p.Leu1056Arg) c.3158T>G (p.Leu1053Arg) c.3185T>G (p.Leu1062Arg) c.3182T>G (p.Leu1061Arg) c.3164T>G (p.Leu1055Arg) c.3107T>G (p.Leu1036Arg) c.3041T>G (p.Leu1014Arg) c.1607T>G (p.Leu536Arg) c.959T>G (p.Leu320Arg) c.746T>G (p.Leu249Arg) c.3020T>G (p.Leu1007Arg) c.3155T>G (p.Leu1052Arg) c.3161T>G (p.Leu1054Arg) c.3077T>G (p.Leu1026Arg) c.3062T>G (p.Leu1021Arg) c.3005T>G (p.Leu1002Arg) c.2939T>G (p.Leu980Arg) c.2300T>G (p.Leu767Arg) c.2918T>G (p.Leu973Arg) | |
9 | g.137813527G>A | CA5375182 | EHMT1 | c.3177G>A (p.Leu1059=) c.3084G>A (p.Leu1028=) c.3217G>A (n.3217G>A) c.1071G>A (p.Leu357=) c.2034G>A (p.Leu678=) n.37G>A n.703G>A c.3168G>A (p.Leu1056=) c.3159G>A (p.Leu1053=) c.3186G>A (p.Leu1062=) c.3183G>A (p.Leu1061=) c.3165G>A (p.Leu1055=) c.3108G>A (p.Leu1036=) c.3042G>A (p.Leu1014=) c.1608G>A (p.Leu536=) c.960G>A (p.Leu320=) c.747G>A (p.Leu249=) c.3021G>A (p.Leu1007=) c.3156G>A (p.Leu1052=) c.3162G>A (p.Leu1054=) c.3078G>A (p.Leu1026=) c.3063G>A (p.Leu1021=) c.3006G>A (p.Leu1002=) c.2940G>A (p.Leu980=) c.2301G>A (p.Leu767=) c.2919G>A (p.Leu973=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137813527G>C | CA467878190 | EHMT1 | c.3177G>C (p.Leu1059=) c.3084G>C (p.Leu1028=) c.3217G>C (n.3217G>C) c.1071G>C (p.Leu357=) c.2034G>C (p.Leu678=) n.37G>C n.703G>C c.3168G>C (p.Leu1056=) c.3159G>C (p.Leu1053=) c.3186G>C (p.Leu1062=) c.3183G>C (p.Leu1061=) c.3165G>C (p.Leu1055=) c.3108G>C (p.Leu1036=) c.3042G>C (p.Leu1014=) c.1608G>C (p.Leu536=) c.960G>C (p.Leu320=) c.747G>C (p.Leu249=) c.3021G>C (p.Leu1007=) c.3156G>C (p.Leu1052=) c.3162G>C (p.Leu1054=) c.3078G>C (p.Leu1026=) c.3063G>C (p.Leu1021=) c.3006G>C (p.Leu1002=) c.2940G>C (p.Leu980=) c.2301G>C (p.Leu767=) c.2919G>C (p.Leu973=) | |
9 | g.137813527G= | CA1884685927 | EHMT1 | c.3177G= (p.Leu1059=) c.3084G= (p.Leu1028=) c.3217G= (n.3217G=) c.1071G= (p.Leu357=) c.2034G= (p.Leu678=) n.37G= n.703G= c.3168G= (p.Leu1056=) c.3159G= (p.Leu1053=) c.3186G= (p.Leu1062=) c.3183G= (p.Leu1061=) c.3165G= (p.Leu1055=) c.3108G= (p.Leu1036=) c.3042G= (p.Leu1014=) c.1608G= (p.Leu536=) c.960G= (p.Leu320=) c.747G= (p.Leu249=) c.3021G= (p.Leu1007=) c.3156G= (p.Leu1052=) c.3162G= (p.Leu1054=) c.3078G= (p.Leu1026=) c.3063G= (p.Leu1021=) c.3006G= (p.Leu1002=) c.2940G= (p.Leu980=) c.2301G= (p.Leu767=) c.2919G= (p.Leu973=) | |
9 | g.137813527G>T | CA467878191 | EHMT1 | c.3177G>T (p.Leu1059=) c.3084G>T (p.Leu1028=) c.3217G>T (n.3217G>T) c.1071G>T (p.Leu357=) c.2034G>T (p.Leu678=) n.37G>T n.703G>T c.3168G>T (p.Leu1056=) c.3159G>T (p.Leu1053=) c.3186G>T (p.Leu1062=) c.3183G>T (p.Leu1061=) c.3165G>T (p.Leu1055=) c.3108G>T (p.Leu1036=) c.3042G>T (p.Leu1014=) c.1608G>T (p.Leu536=) c.960G>T (p.Leu320=) c.747G>T (p.Leu249=) c.3021G>T (p.Leu1007=) c.3156G>T (p.Leu1052=) c.3162G>T (p.Leu1054=) c.3078G>T (p.Leu1026=) c.3063G>T (p.Leu1021=) c.3006G>T (p.Leu1002=) c.2940G>T (p.Leu980=) c.2301G>T (p.Leu767=) c.2919G>T (p.Leu973=) |