| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137813088C>A | CA375793472 | EHMT1 | c.2950C>A (p.Gln984Lys) c.2836C>A (p.Gln946Lys) c.2857C>A (p.Gln953Lys) c.2990C>A (n.2990C>A) c.844C>A (p.Gln282Lys) c.1807C>A (p.Gln603Lys) c.637C>A n.476C>A c.2941C>A (p.Gln981Lys) c.2932C>A (p.Gln978Lys) c.2959C>A (p.Gln987Lys) c.2956C>A (p.Gln986Lys) c.2938C>A (p.Gln980Lys) c.2881C>A (p.Gln961Lys) c.2815C>A (p.Gln939Lys) c.1381C>A (p.Gln461Lys) c.733C>A (p.Gln245Lys) c.520C>A (p.Gln174Lys) c.2794C>A (p.Gln932Lys) c.2929C>A (p.Gln977Lys) c.2935C>A (p.Gln979Lys) c.2851C>A (p.Gln951Lys) c.2779C>A (p.Gln927Lys) c.2713C>A (p.Gln905Lys) c.2074C>A (p.Gln692Lys) c.2692C>A (p.Gln898Lys) | |
| 9 | g.137813088C= | CA1884685696 | EHMT1 | c.2950C= (p.Gln984=) c.2836C= (p.Gln946=) c.2857C= (p.Gln953=) c.2990C= (n.2990C=) c.844C= (p.Gln282=) c.1807C= (p.Gln603=) c.637C= n.476C= c.2941C= (p.Gln981=) c.2932C= (p.Gln978=) c.2959C= (p.Gln987=) c.2956C= (p.Gln986=) c.2938C= (p.Gln980=) c.2881C= (p.Gln961=) c.2815C= (p.Gln939=) c.1381C= (p.Gln461=) c.733C= (p.Gln245=) c.520C= (p.Gln174=) c.2794C= (p.Gln932=) c.2929C= (p.Gln977=) c.2935C= (p.Gln979=) c.2851C= (p.Gln951=) c.2779C= (p.Gln927=) c.2713C= (p.Gln905=) c.2074C= (p.Gln692=) c.2692C= (p.Gln898=) | |
| 9 | g.137813088C>G | CA375793473 | EHMT1 | c.2950C>G (p.Gln984Glu) c.2836C>G (p.Gln946Glu) c.2857C>G (p.Gln953Glu) c.2990C>G (n.2990C>G) c.844C>G (p.Gln282Glu) c.1807C>G (p.Gln603Glu) c.637C>G n.476C>G c.2941C>G (p.Gln981Glu) c.2932C>G (p.Gln978Glu) c.2959C>G (p.Gln987Glu) c.2956C>G (p.Gln986Glu) c.2938C>G (p.Gln980Glu) c.2881C>G (p.Gln961Glu) c.2815C>G (p.Gln939Glu) c.1381C>G (p.Gln461Glu) c.733C>G (p.Gln245Glu) c.520C>G (p.Gln174Glu) c.2794C>G (p.Gln932Glu) c.2929C>G (p.Gln977Glu) c.2935C>G (p.Gln979Glu) c.2851C>G (p.Gln951Glu) c.2779C>G (p.Gln927Glu) c.2713C>G (p.Gln905Glu) c.2074C>G (p.Gln692Glu) c.2692C>G (p.Gln898Glu) | |
| 9 | g.137813088C>T | CA375793475 | EHMT1 | c.2950C>T (p.Gln984Ter) c.2836C>T (p.Gln946Ter) c.2857C>T (p.Gln953Ter) c.2990C>T (n.2990C>T) c.844C>T (p.Gln282Ter) c.1807C>T (p.Gln603Ter) c.637C>T n.476C>T c.2941C>T (p.Gln981Ter) c.2932C>T (p.Gln978Ter) c.2959C>T (p.Gln987Ter) c.2956C>T (p.Gln986Ter) c.2938C>T (p.Gln980Ter) c.2881C>T (p.Gln961Ter) c.2815C>T (p.Gln939Ter) c.1381C>T (p.Gln461Ter) c.733C>T (p.Gln245Ter) c.520C>T (p.Gln174Ter) c.2794C>T (p.Gln932Ter) c.2929C>T (p.Gln977Ter) c.2935C>T (p.Gln979Ter) c.2851C>T (p.Gln951Ter) c.2779C>T (p.Gln927Ter) c.2713C>T (p.Gln905Ter) c.2074C>T (p.Gln692Ter) c.2692C>T (p.Gln898Ter) | ClinVar dbSNP |
| 9 | g.137813089A>C | CA375793481 | EHMT1 | c.2951A>C (p.Gln984Pro) c.2837A>C (p.Gln946Pro) c.2858A>C (p.Gln953Pro) c.2991A>C (n.2991A>C) c.845A>C (p.Gln282Pro) c.1808A>C (p.Gln603Pro) c.638A>C n.477A>C c.2942A>C (p.Gln981Pro) c.2933A>C (p.Gln978Pro) c.2960A>C (p.Gln987Pro) c.2957A>C (p.Gln986Pro) c.2939A>C (p.Gln980Pro) c.2882A>C (p.Gln961Pro) c.2816A>C (p.Gln939Pro) c.1382A>C (p.Gln461Pro) c.734A>C (p.Gln245Pro) c.521A>C (p.Gln174Pro) c.2795A>C (p.Gln932Pro) c.2930A>C (p.Gln977Pro) c.2936A>C (p.Gln979Pro) c.2852A>C (p.Gln951Pro) c.2780A>C (p.Gln927Pro) c.2714A>C (p.Gln905Pro) c.2075A>C (p.Gln692Pro) c.2693A>C (p.Gln898Pro) | gnomAD v4 |
| 9 | g.137813089A>G | CA375793477 | EHMT1 | c.2951A>G (p.Gln984Arg) c.2837A>G (p.Gln946Arg) c.2858A>G (p.Gln953Arg) c.2991A>G (n.2991A>G) c.845A>G (p.Gln282Arg) c.1808A>G (p.Gln603Arg) c.638A>G n.477A>G c.2942A>G (p.Gln981Arg) c.2933A>G (p.Gln978Arg) c.2960A>G (p.Gln987Arg) c.2957A>G (p.Gln986Arg) c.2939A>G (p.Gln980Arg) c.2882A>G (p.Gln961Arg) c.2816A>G (p.Gln939Arg) c.1382A>G (p.Gln461Arg) c.734A>G (p.Gln245Arg) c.521A>G (p.Gln174Arg) c.2795A>G (p.Gln932Arg) c.2930A>G (p.Gln977Arg) c.2936A>G (p.Gln979Arg) c.2852A>G (p.Gln951Arg) c.2780A>G (p.Gln927Arg) c.2714A>G (p.Gln905Arg) c.2075A>G (p.Gln692Arg) c.2693A>G (p.Gln898Arg) | |
| 9 | g.137813089A>T | CA375793479 | EHMT1 | c.2951A>T (p.Gln984Leu) c.2837A>T (p.Gln946Leu) c.2858A>T (p.Gln953Leu) c.2991A>T (n.2991A>T) c.845A>T (p.Gln282Leu) c.1808A>T (p.Gln603Leu) c.638A>T n.477A>T c.2942A>T (p.Gln981Leu) c.2933A>T (p.Gln978Leu) c.2960A>T (p.Gln987Leu) c.2957A>T (p.Gln986Leu) c.2939A>T (p.Gln980Leu) c.2882A>T (p.Gln961Leu) c.2816A>T (p.Gln939Leu) c.1382A>T (p.Gln461Leu) c.734A>T (p.Gln245Leu) c.521A>T (p.Gln174Leu) c.2795A>T (p.Gln932Leu) c.2930A>T (p.Gln977Leu) c.2936A>T (p.Gln979Leu) c.2852A>T (p.Gln951Leu) c.2780A>T (p.Gln927Leu) c.2714A>T (p.Gln905Leu) c.2075A>T (p.Gln692Leu) c.2693A>T (p.Gln898Leu) | |
| 9 | g.137813090G>A | CA468161066 | EHMT1 | c.2952G>A (p.Gln984=) c.2838G>A (p.Gln946=) c.2859G>A (p.Gln953=) c.2992G>A (n.2992G>A) c.846G>A (p.Gln282=) c.1809G>A (p.Gln603=) c.639G>A n.478G>A c.2943G>A (p.Gln981=) c.2934G>A (p.Gln978=) c.2961G>A (p.Gln987=) c.2958G>A (p.Gln986=) c.2940G>A (p.Gln980=) c.2883G>A (p.Gln961=) c.2817G>A (p.Gln939=) c.1383G>A (p.Gln461=) c.735G>A (p.Gln245=) c.522G>A (p.Gln174=) c.2796G>A (p.Gln932=) c.2931G>A (p.Gln977=) c.2937G>A (p.Gln979=) c.2853G>A (p.Gln951=) c.2781G>A (p.Gln927=) c.2715G>A (p.Gln905=) c.2076G>A (p.Gln692=) c.2694G>A (p.Gln898=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813090G>C | CA375793483 | EHMT1 | c.2952G>C (p.Gln984His) c.2838G>C (p.Gln946His) c.2859G>C (p.Gln953His) c.2992G>C (n.2992G>C) c.846G>C (p.Gln282His) c.1809G>C (p.Gln603His) c.639G>C n.478G>C c.2943G>C (p.Gln981His) c.2934G>C (p.Gln978His) c.2961G>C (p.Gln987His) c.2958G>C (p.Gln986His) c.2940G>C (p.Gln980His) c.2883G>C (p.Gln961His) c.2817G>C (p.Gln939His) c.1383G>C (p.Gln461His) c.735G>C (p.Gln245His) c.522G>C (p.Gln174His) c.2796G>C (p.Gln932His) c.2931G>C (p.Gln977His) c.2937G>C (p.Gln979His) c.2853G>C (p.Gln951His) c.2781G>C (p.Gln927His) c.2715G>C (p.Gln905His) c.2076G>C (p.Gln692His) c.2694G>C (p.Gln898His) | |
| 9 | g.137813090G= | CA1884685697 | EHMT1 | c.2952G= (p.Gln984=) c.2838G= (p.Gln946=) c.2859G= (p.Gln953=) c.2992G= (n.2992G=) c.846G= (p.Gln282=) c.1809G= (p.Gln603=) c.639G= n.478G= c.2943G= (p.Gln981=) c.2934G= (p.Gln978=) c.2961G= (p.Gln987=) c.2958G= (p.Gln986=) c.2940G= (p.Gln980=) c.2883G= (p.Gln961=) c.2817G= (p.Gln939=) c.1383G= (p.Gln461=) c.735G= (p.Gln245=) c.522G= (p.Gln174=) c.2796G= (p.Gln932=) c.2931G= (p.Gln977=) c.2937G= (p.Gln979=) c.2853G= (p.Gln951=) c.2781G= (p.Gln927=) c.2715G= (p.Gln905=) c.2076G= (p.Gln692=) c.2694G= (p.Gln898=) | |
| 9 | g.137813090G>T | CA375793484 | EHMT1 | c.2952G>T (p.Gln984His) c.2838G>T (p.Gln946His) c.2859G>T (p.Gln953His) c.2992G>T (n.2992G>T) c.846G>T (p.Gln282His) c.1809G>T (p.Gln603His) c.639G>T n.478G>T c.2943G>T (p.Gln981His) c.2934G>T (p.Gln978His) c.2961G>T (p.Gln987His) c.2958G>T (p.Gln986His) c.2940G>T (p.Gln980His) c.2883G>T (p.Gln961His) c.2817G>T (p.Gln939His) c.1383G>T (p.Gln461His) c.735G>T (p.Gln245His) c.522G>T (p.Gln174His) c.2796G>T (p.Gln932His) c.2931G>T (p.Gln977His) c.2937G>T (p.Gln979His) c.2853G>T (p.Gln951His) c.2781G>T (p.Gln927His) c.2715G>T (p.Gln905His) c.2076G>T (p.Gln692His) c.2694G>T (p.Gln898His) | |
| 9 | g.137813091G>A | CA5375113 | EHMT1 | c.2953G>A (p.Val985Met) c.2839G>A (p.Val947Met) c.2860G>A (p.Val954Met) c.2993G>A (n.2993G>A) c.847G>A (p.Val283Met) c.1810G>A (p.Val604Met) c.640G>A n.479G>A c.2944G>A (p.Val982Met) c.2935G>A (p.Val979Met) c.2962G>A (p.Val988Met) c.2959G>A (p.Val987Met) c.2941G>A (p.Val981Met) c.2884G>A (p.Val962Met) c.2818G>A (p.Val940Met) c.1384G>A (p.Val462Met) c.736G>A (p.Val246Met) c.523G>A (p.Val175Met) c.2797G>A (p.Val933Met) c.2932G>A (p.Val978Met) c.2938G>A (p.Val980Met) c.2854G>A (p.Val952Met) c.2782G>A (p.Val928Met) c.2716G>A (p.Val906Met) c.2077G>A (p.Val693Met) c.2695G>A (p.Val899Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813091G>C | CA375793487 | EHMT1 | c.2953G>C (p.Val985Leu) c.2839G>C (p.Val947Leu) c.2860G>C (p.Val954Leu) c.2993G>C (n.2993G>C) c.847G>C (p.Val283Leu) c.1810G>C (p.Val604Leu) c.640G>C n.479G>C c.2944G>C (p.Val982Leu) c.2935G>C (p.Val979Leu) c.2962G>C (p.Val988Leu) c.2959G>C (p.Val987Leu) c.2941G>C (p.Val981Leu) c.2884G>C (p.Val962Leu) c.2818G>C (p.Val940Leu) c.1384G>C (p.Val462Leu) c.736G>C (p.Val246Leu) c.523G>C (p.Val175Leu) c.2797G>C (p.Val933Leu) c.2932G>C (p.Val978Leu) c.2938G>C (p.Val980Leu) c.2854G>C (p.Val952Leu) c.2782G>C (p.Val928Leu) c.2716G>C (p.Val906Leu) c.2077G>C (p.Val693Leu) c.2695G>C (p.Val899Leu) | |
| 9 | g.137813091G= | CA1884685698 | EHMT1 | c.2953G= (p.Val985=) c.2839G= (p.Val947=) c.2860G= (p.Val954=) c.2993G= (n.2993G=) c.847G= (p.Val283=) c.1810G= (p.Val604=) c.640G= n.479G= c.2944G= (p.Val982=) c.2935G= (p.Val979=) c.2962G= (p.Val988=) c.2959G= (p.Val987=) c.2941G= (p.Val981=) c.2884G= (p.Val962=) c.2818G= (p.Val940=) c.1384G= (p.Val462=) c.736G= (p.Val246=) c.523G= (p.Val175=) c.2797G= (p.Val933=) c.2932G= (p.Val978=) c.2938G= (p.Val980=) c.2854G= (p.Val952=) c.2782G= (p.Val928=) c.2716G= (p.Val906=) c.2077G= (p.Val693=) c.2695G= (p.Val899=) | |
| 9 | g.137813091G>T | CA375793488 | EHMT1 | c.2953G>T (p.Val985Leu) c.2839G>T (p.Val947Leu) c.2860G>T (p.Val954Leu) c.2993G>T (n.2993G>T) c.847G>T (p.Val283Leu) c.1810G>T (p.Val604Leu) c.640G>T n.479G>T c.2944G>T (p.Val982Leu) c.2935G>T (p.Val979Leu) c.2962G>T (p.Val988Leu) c.2959G>T (p.Val987Leu) c.2941G>T (p.Val981Leu) c.2884G>T (p.Val962Leu) c.2818G>T (p.Val940Leu) c.1384G>T (p.Val462Leu) c.736G>T (p.Val246Leu) c.523G>T (p.Val175Leu) c.2797G>T (p.Val933Leu) c.2932G>T (p.Val978Leu) c.2938G>T (p.Val980Leu) c.2854G>T (p.Val952Leu) c.2782G>T (p.Val928Leu) c.2716G>T (p.Val906Leu) c.2077G>T (p.Val693Leu) c.2695G>T (p.Val899Leu) | |
| 9 | g.137813092T>A | CA375793494 | EHMT1 | c.2954T>A (p.Val985Glu) c.2840T>A (p.Val947Glu) c.2861T>A (p.Val954Glu) c.2994T>A (n.2994T>A) c.848T>A (p.Val283Glu) c.1811T>A (p.Val604Glu) c.641T>A n.480T>A c.2945T>A (p.Val982Glu) c.2936T>A (p.Val979Glu) c.2963T>A (p.Val988Glu) c.2960T>A (p.Val987Glu) c.2942T>A (p.Val981Glu) c.2885T>A (p.Val962Glu) c.2819T>A (p.Val940Glu) c.1385T>A (p.Val462Glu) c.737T>A (p.Val246Glu) c.524T>A (p.Val175Glu) c.2798T>A (p.Val933Glu) c.2933T>A (p.Val978Glu) c.2939T>A (p.Val980Glu) c.2855T>A (p.Val952Glu) c.2783T>A (p.Val928Glu) c.2717T>A (p.Val906Glu) c.2078T>A (p.Val693Glu) c.2696T>A (p.Val899Glu) | |
| 9 | g.137813092T>C | CA375793490 | EHMT1 | c.2954T>C (p.Val985Ala) c.2840T>C (p.Val947Ala) c.2861T>C (p.Val954Ala) c.2994T>C (n.2994T>C) c.848T>C (p.Val283Ala) c.1811T>C (p.Val604Ala) c.641T>C n.480T>C c.2945T>C (p.Val982Ala) c.2936T>C (p.Val979Ala) c.2963T>C (p.Val988Ala) c.2960T>C (p.Val987Ala) c.2942T>C (p.Val981Ala) c.2885T>C (p.Val962Ala) c.2819T>C (p.Val940Ala) c.1385T>C (p.Val462Ala) c.737T>C (p.Val246Ala) c.524T>C (p.Val175Ala) c.2798T>C (p.Val933Ala) c.2933T>C (p.Val978Ala) c.2939T>C (p.Val980Ala) c.2855T>C (p.Val952Ala) c.2783T>C (p.Val928Ala) c.2717T>C (p.Val906Ala) c.2078T>C (p.Val693Ala) c.2696T>C (p.Val899Ala) | |
| 9 | g.137813092T>G | CA375793492 | EHMT1 | c.2954T>G (p.Val985Gly) c.2840T>G (p.Val947Gly) c.2861T>G (p.Val954Gly) c.2994T>G (n.2994T>G) c.848T>G (p.Val283Gly) c.1811T>G (p.Val604Gly) c.641T>G n.480T>G c.2945T>G (p.Val982Gly) c.2936T>G (p.Val979Gly) c.2963T>G (p.Val988Gly) c.2960T>G (p.Val987Gly) c.2942T>G (p.Val981Gly) c.2885T>G (p.Val962Gly) c.2819T>G (p.Val940Gly) c.1385T>G (p.Val462Gly) c.737T>G (p.Val246Gly) c.524T>G (p.Val175Gly) c.2798T>G (p.Val933Gly) c.2933T>G (p.Val978Gly) c.2939T>G (p.Val980Gly) c.2855T>G (p.Val952Gly) c.2783T>G (p.Val928Gly) c.2717T>G (p.Val906Gly) c.2078T>G (p.Val693Gly) c.2696T>G (p.Val899Gly) | |
| 9 | g.137813093G>A | CA468161067 | EHMT1 | c.2955G>A (p.Val985=) c.2841G>A (p.Val947=) c.2862G>A (p.Val954=) c.2995G>A (n.2995G>A) c.849G>A (p.Val283=) c.1812G>A (p.Val604=) c.642G>A n.481G>A c.2946G>A (p.Val982=) c.2937G>A (p.Val979=) c.2964G>A (p.Val988=) c.2961G>A (p.Val987=) c.2943G>A (p.Val981=) c.2886G>A (p.Val962=) c.2820G>A (p.Val940=) c.1386G>A (p.Val462=) c.738G>A (p.Val246=) c.525G>A (p.Val175=) c.2799G>A (p.Val933=) c.2934G>A (p.Val978=) c.2940G>A (p.Val980=) c.2856G>A (p.Val952=) c.2784G>A (p.Val928=) c.2718G>A (p.Val906=) c.2079G>A (p.Val693=) c.2697G>A (p.Val899=) | |
| 9 | g.137813093G>C | CA468161068 | EHMT1 | c.2955G>C (p.Val985=) c.2841G>C (p.Val947=) c.2862G>C (p.Val954=) c.2995G>C (n.2995G>C) c.849G>C (p.Val283=) c.1812G>C (p.Val604=) c.642G>C n.481G>C c.2946G>C (p.Val982=) c.2937G>C (p.Val979=) c.2964G>C (p.Val988=) c.2961G>C (p.Val987=) c.2943G>C (p.Val981=) c.2886G>C (p.Val962=) c.2820G>C (p.Val940=) c.1386G>C (p.Val462=) c.738G>C (p.Val246=) c.525G>C (p.Val175=) c.2799G>C (p.Val933=) c.2934G>C (p.Val978=) c.2940G>C (p.Val980=) c.2856G>C (p.Val952=) c.2784G>C (p.Val928=) c.2718G>C (p.Val906=) c.2079G>C (p.Val693=) c.2697G>C (p.Val899=) | |
| 9 | g.137813093G>T | CA468161069 | EHMT1 | c.2955G>T (p.Val985=) c.2841G>T (p.Val947=) c.2862G>T (p.Val954=) c.2995G>T (n.2995G>T) c.849G>T (p.Val283=) c.1812G>T (p.Val604=) c.642G>T n.481G>T c.2946G>T (p.Val982=) c.2937G>T (p.Val979=) c.2964G>T (p.Val988=) c.2961G>T (p.Val987=) c.2943G>T (p.Val981=) c.2886G>T (p.Val962=) c.2820G>T (p.Val940=) c.1386G>T (p.Val462=) c.738G>T (p.Val246=) c.525G>T (p.Val175=) c.2799G>T (p.Val933=) c.2934G>T (p.Val978=) c.2940G>T (p.Val980=) c.2856G>T (p.Val952=) c.2784G>T (p.Val928=) c.2718G>T (p.Val906=) c.2079G>T (p.Val693=) c.2697G>T (p.Val899=) | |
| 9 | g.137813094T>A | CA375793496 | EHMT1 | c.2956T>A (p.Trp986Arg) c.2842T>A (p.Trp948Arg) c.2863T>A (p.Trp955Arg) c.2996T>A (n.2996T>A) c.850T>A (p.Trp284Arg) c.1813T>A (p.Trp605Arg) c.643T>A n.482T>A c.2947T>A (p.Trp983Arg) c.2938T>A (p.Trp980Arg) c.2965T>A (p.Trp989Arg) c.2962T>A (p.Trp988Arg) c.2944T>A (p.Trp982Arg) c.2887T>A (p.Trp963Arg) c.2821T>A (p.Trp941Arg) c.1387T>A (p.Trp463Arg) c.739T>A (p.Trp247Arg) c.526T>A (p.Trp176Arg) c.2800T>A (p.Trp934Arg) c.2935T>A (p.Trp979Arg) c.2941T>A (p.Trp981Arg) c.2857T>A (p.Trp953Arg) c.2785T>A (p.Trp929Arg) c.2719T>A (p.Trp907Arg) c.2080T>A (p.Trp694Arg) c.2698T>A (p.Trp900Arg) | |
| 9 | g.137813094T>C | CA375793498 | EHMT1 | c.2956T>C (p.Trp986Arg) c.2842T>C (p.Trp948Arg) c.2863T>C (p.Trp955Arg) c.2996T>C (n.2996T>C) c.850T>C (p.Trp284Arg) c.1813T>C (p.Trp605Arg) c.643T>C n.482T>C c.2947T>C (p.Trp983Arg) c.2938T>C (p.Trp980Arg) c.2965T>C (p.Trp989Arg) c.2962T>C (p.Trp988Arg) c.2944T>C (p.Trp982Arg) c.2887T>C (p.Trp963Arg) c.2821T>C (p.Trp941Arg) c.1387T>C (p.Trp463Arg) c.739T>C (p.Trp247Arg) c.526T>C (p.Trp176Arg) c.2800T>C (p.Trp934Arg) c.2935T>C (p.Trp979Arg) c.2941T>C (p.Trp981Arg) c.2857T>C (p.Trp953Arg) c.2785T>C (p.Trp929Arg) c.2719T>C (p.Trp907Arg) c.2080T>C (p.Trp694Arg) c.2698T>C (p.Trp900Arg) | |
| 9 | g.137813094T>G | CA375793500 | EHMT1 | c.2956T>G (p.Trp986Gly) c.2842T>G (p.Trp948Gly) c.2863T>G (p.Trp955Gly) c.2996T>G (n.2996T>G) c.850T>G (p.Trp284Gly) c.1813T>G (p.Trp605Gly) c.643T>G n.482T>G c.2947T>G (p.Trp983Gly) c.2938T>G (p.Trp980Gly) c.2965T>G (p.Trp989Gly) c.2962T>G (p.Trp988Gly) c.2944T>G (p.Trp982Gly) c.2887T>G (p.Trp963Gly) c.2821T>G (p.Trp941Gly) c.1387T>G (p.Trp463Gly) c.739T>G (p.Trp247Gly) c.526T>G (p.Trp176Gly) c.2800T>G (p.Trp934Gly) c.2935T>G (p.Trp979Gly) c.2941T>G (p.Trp981Gly) c.2857T>G (p.Trp953Gly) c.2785T>G (p.Trp929Gly) c.2719T>G (p.Trp907Gly) c.2080T>G (p.Trp694Gly) c.2698T>G (p.Trp900Gly) | |
| 9 | g.137813095G>A | CA375793501 | EHMT1 | c.2957G>A (p.Trp986Ter) c.2843G>A (p.Trp948Ter) c.2864G>A (p.Trp955Ter) c.2997G>A (n.2997G>A) c.851G>A (p.Trp284Ter) c.1814G>A (p.Trp605Ter) c.644G>A n.483G>A c.2948G>A (p.Trp983Ter) c.2939G>A (p.Trp980Ter) c.2966G>A (p.Trp989Ter) c.2963G>A (p.Trp988Ter) c.2945G>A (p.Trp982Ter) c.2888G>A (p.Trp963Ter) c.2822G>A (p.Trp941Ter) c.1388G>A (p.Trp463Ter) c.740G>A (p.Trp247Ter) c.527G>A (p.Trp176Ter) c.2801G>A (p.Trp934Ter) c.2936G>A (p.Trp979Ter) c.2942G>A (p.Trp981Ter) c.2858G>A (p.Trp953Ter) c.2786G>A (p.Trp929Ter) c.2720G>A (p.Trp907Ter) c.2081G>A (p.Trp694Ter) c.2699G>A (p.Trp900Ter) | |
| 9 | g.137813095G>C | CA375793503 | EHMT1 | c.2957G>C (p.Trp986Ser) c.2843G>C (p.Trp948Ser) c.2864G>C (p.Trp955Ser) c.2997G>C (n.2997G>C) c.851G>C (p.Trp284Ser) c.1814G>C (p.Trp605Ser) c.644G>C n.483G>C c.2948G>C (p.Trp983Ser) c.2939G>C (p.Trp980Ser) c.2966G>C (p.Trp989Ser) c.2963G>C (p.Trp988Ser) c.2945G>C (p.Trp982Ser) c.2888G>C (p.Trp963Ser) c.2822G>C (p.Trp941Ser) c.1388G>C (p.Trp463Ser) c.740G>C (p.Trp247Ser) c.527G>C (p.Trp176Ser) c.2801G>C (p.Trp934Ser) c.2936G>C (p.Trp979Ser) c.2942G>C (p.Trp981Ser) c.2858G>C (p.Trp953Ser) c.2786G>C (p.Trp929Ser) c.2720G>C (p.Trp907Ser) c.2081G>C (p.Trp694Ser) c.2699G>C (p.Trp900Ser) | |
| 9 | g.137813095G>T | CA375793505 | EHMT1 | c.2957G>T (p.Trp986Leu) c.2843G>T (p.Trp948Leu) c.2864G>T (p.Trp955Leu) c.2997G>T (n.2997G>T) c.851G>T (p.Trp284Leu) c.1814G>T (p.Trp605Leu) c.644G>T n.483G>T c.2948G>T (p.Trp983Leu) c.2939G>T (p.Trp980Leu) c.2966G>T (p.Trp989Leu) c.2963G>T (p.Trp988Leu) c.2945G>T (p.Trp982Leu) c.2888G>T (p.Trp963Leu) c.2822G>T (p.Trp941Leu) c.1388G>T (p.Trp463Leu) c.740G>T (p.Trp247Leu) c.527G>T (p.Trp176Leu) c.2801G>T (p.Trp934Leu) c.2936G>T (p.Trp979Leu) c.2942G>T (p.Trp981Leu) c.2858G>T (p.Trp953Leu) c.2786G>T (p.Trp929Leu) c.2720G>T (p.Trp907Leu) c.2081G>T (p.Trp694Leu) c.2699G>T (p.Trp900Leu) | |
| 9 | g.137813096G>A | CA375793507 | EHMT1 | c.2958G>A (p.Trp986Ter) c.2844G>A (p.Trp948Ter) c.2865G>A (p.Trp955Ter) c.2998G>A (n.2998G>A) c.852G>A (p.Trp284Ter) c.1815G>A (p.Trp605Ter) c.645G>A n.484G>A c.2949G>A (p.Trp983Ter) c.2940G>A (p.Trp980Ter) c.2967G>A (p.Trp989Ter) c.2964G>A (p.Trp988Ter) c.2946G>A (p.Trp982Ter) c.2889G>A (p.Trp963Ter) c.2823G>A (p.Trp941Ter) c.1389G>A (p.Trp463Ter) c.741G>A (p.Trp247Ter) c.528G>A (p.Trp176Ter) c.2802G>A (p.Trp934Ter) c.2937G>A (p.Trp979Ter) c.2943G>A (p.Trp981Ter) c.2859G>A (p.Trp953Ter) c.2787G>A (p.Trp929Ter) c.2721G>A (p.Trp907Ter) c.2082G>A (p.Trp694Ter) c.2700G>A (p.Trp900Ter) | ClinVar dbSNP |
| 9 | g.137813096G>C | CA375793509 | EHMT1 | c.2958G>C (p.Trp986Cys) c.2844G>C (p.Trp948Cys) c.2865G>C (p.Trp955Cys) c.2998G>C (n.2998G>C) c.852G>C (p.Trp284Cys) c.1815G>C (p.Trp605Cys) c.645G>C n.484G>C c.2949G>C (p.Trp983Cys) c.2940G>C (p.Trp980Cys) c.2967G>C (p.Trp989Cys) c.2964G>C (p.Trp988Cys) c.2946G>C (p.Trp982Cys) c.2889G>C (p.Trp963Cys) c.2823G>C (p.Trp941Cys) c.1389G>C (p.Trp463Cys) c.741G>C (p.Trp247Cys) c.528G>C (p.Trp176Cys) c.2802G>C (p.Trp934Cys) c.2937G>C (p.Trp979Cys) c.2943G>C (p.Trp981Cys) c.2859G>C (p.Trp953Cys) c.2787G>C (p.Trp929Cys) c.2721G>C (p.Trp907Cys) c.2082G>C (p.Trp694Cys) c.2700G>C (p.Trp900Cys) | |
| 9 | g.137813096G= | CA1884685699 | EHMT1 | c.2958G= (p.Trp986=) c.2844G= (p.Trp948=) c.2865G= (p.Trp955=) c.2998G= (n.2998G=) c.852G= (p.Trp284=) c.1815G= (p.Trp605=) c.645G= n.484G= c.2949G= (p.Trp983=) c.2940G= (p.Trp980=) c.2967G= (p.Trp989=) c.2964G= (p.Trp988=) c.2946G= (p.Trp982=) c.2889G= (p.Trp963=) c.2823G= (p.Trp941=) c.1389G= (p.Trp463=) c.741G= (p.Trp247=) c.528G= (p.Trp176=) c.2802G= (p.Trp934=) c.2937G= (p.Trp979=) c.2943G= (p.Trp981=) c.2859G= (p.Trp953=) c.2787G= (p.Trp929=) c.2721G= (p.Trp907=) c.2082G= (p.Trp694=) c.2700G= (p.Trp900=) | |
| 9 | g.137813096G>T | CA375793511 | EHMT1 | c.2958G>T (p.Trp986Cys) c.2844G>T (p.Trp948Cys) c.2865G>T (p.Trp955Cys) c.2998G>T (n.2998G>T) c.852G>T (p.Trp284Cys) c.1815G>T (p.Trp605Cys) c.645G>T n.484G>T c.2949G>T (p.Trp983Cys) c.2940G>T (p.Trp980Cys) c.2967G>T (p.Trp989Cys) c.2964G>T (p.Trp988Cys) c.2946G>T (p.Trp982Cys) c.2889G>T (p.Trp963Cys) c.2823G>T (p.Trp941Cys) c.1389G>T (p.Trp463Cys) c.741G>T (p.Trp247Cys) c.528G>T (p.Trp176Cys) c.2802G>T (p.Trp934Cys) c.2937G>T (p.Trp979Cys) c.2943G>T (p.Trp981Cys) c.2859G>T (p.Trp953Cys) c.2787G>T (p.Trp929Cys) c.2721G>T (p.Trp907Cys) c.2082G>T (p.Trp694Cys) c.2700G>T (p.Trp900Cys) | |
| 9 | g.137813097A= | CA1884685700 | EHMT1 | c.2959A= (p.Ser987=) c.2845A= (p.Ser949=) c.2866A= (p.Ser956=) c.2999A= (n.2999A=) c.853A= (p.Ser285=) c.1816A= (p.Ser606=) c.646A= n.485A= c.2950A= (p.Ser984=) c.2941A= (p.Ser981=) c.2968A= (p.Ser990=) c.2965A= (p.Ser989=) c.2947A= (p.Ser983=) c.2890A= (p.Ser964=) c.2824A= (p.Ser942=) c.1390A= (p.Ser464=) c.742A= (p.Ser248=) c.529A= (p.Ser177=) c.2803A= (p.Ser935=) c.2938A= (p.Ser980=) c.2944A= (p.Ser982=) c.2860A= (p.Ser954=) c.2788A= (p.Ser930=) c.2722A= (p.Ser908=) c.2083A= (p.Ser695=) c.2701A= (p.Ser901=) | |
| 9 | g.137813097A>C | CA375793514 | EHMT1 | c.2959A>C (p.Ser987Arg) c.2845A>C (p.Ser949Arg) c.2866A>C (p.Ser956Arg) c.2999A>C (n.2999A>C) c.853A>C (p.Ser285Arg) c.1816A>C (p.Ser606Arg) c.646A>C n.485A>C c.2950A>C (p.Ser984Arg) c.2941A>C (p.Ser981Arg) c.2968A>C (p.Ser990Arg) c.2965A>C (p.Ser989Arg) c.2947A>C (p.Ser983Arg) c.2890A>C (p.Ser964Arg) c.2824A>C (p.Ser942Arg) c.1390A>C (p.Ser464Arg) c.742A>C (p.Ser248Arg) c.529A>C (p.Ser177Arg) c.2803A>C (p.Ser935Arg) c.2938A>C (p.Ser980Arg) c.2944A>C (p.Ser982Arg) c.2860A>C (p.Ser954Arg) c.2788A>C (p.Ser930Arg) c.2722A>C (p.Ser908Arg) c.2083A>C (p.Ser695Arg) c.2701A>C (p.Ser901Arg) | |
| 9 | g.137813097A>G | CA5375114 | EHMT1 | c.2959A>G (p.Ser987Gly) c.2845A>G (p.Ser949Gly) c.2866A>G (p.Ser956Gly) c.2999A>G (n.2999A>G) c.853A>G (p.Ser285Gly) c.1816A>G (p.Ser606Gly) c.646A>G n.485A>G c.2950A>G (p.Ser984Gly) c.2941A>G (p.Ser981Gly) c.2968A>G (p.Ser990Gly) c.2965A>G (p.Ser989Gly) c.2947A>G (p.Ser983Gly) c.2890A>G (p.Ser964Gly) c.2824A>G (p.Ser942Gly) c.1390A>G (p.Ser464Gly) c.742A>G (p.Ser248Gly) c.529A>G (p.Ser177Gly) c.2803A>G (p.Ser935Gly) c.2938A>G (p.Ser980Gly) c.2944A>G (p.Ser982Gly) c.2860A>G (p.Ser954Gly) c.2788A>G (p.Ser930Gly) c.2722A>G (p.Ser908Gly) c.2083A>G (p.Ser695Gly) c.2701A>G (p.Ser901Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813097A>T | CA375793517 | EHMT1 | c.2959A>T (p.Ser987Cys) c.2845A>T (p.Ser949Cys) c.2866A>T (p.Ser956Cys) c.2999A>T (n.2999A>T) c.853A>T (p.Ser285Cys) c.1816A>T (p.Ser606Cys) c.646A>T n.485A>T c.2950A>T (p.Ser984Cys) c.2941A>T (p.Ser981Cys) c.2968A>T (p.Ser990Cys) c.2965A>T (p.Ser989Cys) c.2947A>T (p.Ser983Cys) c.2890A>T (p.Ser964Cys) c.2824A>T (p.Ser942Cys) c.1390A>T (p.Ser464Cys) c.742A>T (p.Ser248Cys) c.529A>T (p.Ser177Cys) c.2803A>T (p.Ser935Cys) c.2938A>T (p.Ser980Cys) c.2944A>T (p.Ser982Cys) c.2860A>T (p.Ser954Cys) c.2788A>T (p.Ser930Cys) c.2722A>T (p.Ser908Cys) c.2083A>T (p.Ser695Cys) c.2701A>T (p.Ser901Cys) | |
| 9 | g.137813098G>A | CA5375115 | EHMT1 | c.2960G>A (p.Ser987Asn) c.2846G>A (p.Ser949Asn) c.2867G>A (p.Ser956Asn) c.3000G>A (n.3000G>A) c.854G>A (p.Ser285Asn) c.1817G>A (p.Ser606Asn) c.647G>A n.486G>A c.2951G>A (p.Ser984Asn) c.2942G>A (p.Ser981Asn) c.2969G>A (p.Ser990Asn) c.2966G>A (p.Ser989Asn) c.2948G>A (p.Ser983Asn) c.2891G>A (p.Ser964Asn) c.2825G>A (p.Ser942Asn) c.1391G>A (p.Ser464Asn) c.743G>A (p.Ser248Asn) c.530G>A (p.Ser177Asn) c.2804G>A (p.Ser935Asn) c.2939G>A (p.Ser980Asn) c.2945G>A (p.Ser982Asn) c.2861G>A (p.Ser954Asn) c.2789G>A (p.Ser930Asn) c.2723G>A (p.Ser908Asn) c.2084G>A (p.Ser695Asn) c.2702G>A (p.Ser901Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813098G>C | CA375793522 | EHMT1 | c.2960G>C (p.Ser987Thr) c.2846G>C (p.Ser949Thr) c.2867G>C (p.Ser956Thr) c.3000G>C (n.3000G>C) c.854G>C (p.Ser285Thr) c.1817G>C (p.Ser606Thr) c.647G>C n.486G>C c.2951G>C (p.Ser984Thr) c.2942G>C (p.Ser981Thr) c.2969G>C (p.Ser990Thr) c.2966G>C (p.Ser989Thr) c.2948G>C (p.Ser983Thr) c.2891G>C (p.Ser964Thr) c.2825G>C (p.Ser942Thr) c.1391G>C (p.Ser464Thr) c.743G>C (p.Ser248Thr) c.530G>C (p.Ser177Thr) c.2804G>C (p.Ser935Thr) c.2939G>C (p.Ser980Thr) c.2945G>C (p.Ser982Thr) c.2861G>C (p.Ser954Thr) c.2789G>C (p.Ser930Thr) c.2723G>C (p.Ser908Thr) c.2084G>C (p.Ser695Thr) c.2702G>C (p.Ser901Thr) | |
| 9 | g.137813098G= | CA1884685701 | EHMT1 | c.2960G= (p.Ser987=) c.2846G= (p.Ser949=) c.2867G= (p.Ser956=) c.3000G= (n.3000G=) c.854G= (p.Ser285=) c.1817G= (p.Ser606=) c.647G= n.486G= c.2951G= (p.Ser984=) c.2942G= (p.Ser981=) c.2969G= (p.Ser990=) c.2966G= (p.Ser989=) c.2948G= (p.Ser983=) c.2891G= (p.Ser964=) c.2825G= (p.Ser942=) c.1391G= (p.Ser464=) c.743G= (p.Ser248=) c.530G= (p.Ser177=) c.2804G= (p.Ser935=) c.2939G= (p.Ser980=) c.2945G= (p.Ser982=) c.2861G= (p.Ser954=) c.2789G= (p.Ser930=) c.2723G= (p.Ser908=) c.2084G= (p.Ser695=) c.2702G= (p.Ser901=) | |
| 9 | g.137813098G>T | CA375793520 | EHMT1 | c.2960G>T (p.Ser987Ile) c.2846G>T (p.Ser949Ile) c.2867G>T (p.Ser956Ile) c.3000G>T (n.3000G>T) c.854G>T (p.Ser285Ile) c.1817G>T (p.Ser606Ile) c.647G>T n.486G>T c.2951G>T (p.Ser984Ile) c.2942G>T (p.Ser981Ile) c.2969G>T (p.Ser990Ile) c.2966G>T (p.Ser989Ile) c.2948G>T (p.Ser983Ile) c.2891G>T (p.Ser964Ile) c.2825G>T (p.Ser942Ile) c.1391G>T (p.Ser464Ile) c.743G>T (p.Ser248Ile) c.530G>T (p.Ser177Ile) c.2804G>T (p.Ser935Ile) c.2939G>T (p.Ser980Ile) c.2945G>T (p.Ser982Ile) c.2861G>T (p.Ser954Ile) c.2789G>T (p.Ser930Ile) c.2723G>T (p.Ser908Ile) c.2084G>T (p.Ser695Ile) c.2702G>T (p.Ser901Ile) | |
| 9 | g.137813099C>A | CA375793523 | EHMT1 | c.2961C>A (p.Ser987Arg) c.2847C>A (p.Ser949Arg) c.2868C>A (p.Ser956Arg) c.3001C>A (n.3001C>A) c.855C>A (p.Ser285Arg) c.1818C>A (p.Ser606Arg) c.648C>A n.487C>A c.2952C>A (p.Ser984Arg) c.2943C>A (p.Ser981Arg) c.2970C>A (p.Ser990Arg) c.2967C>A (p.Ser989Arg) c.2949C>A (p.Ser983Arg) c.2892C>A (p.Ser964Arg) c.2826C>A (p.Ser942Arg) c.1392C>A (p.Ser464Arg) c.744C>A (p.Ser248Arg) c.531C>A (p.Ser177Arg) c.2805C>A (p.Ser935Arg) c.2940C>A (p.Ser980Arg) c.2946C>A (p.Ser982Arg) c.2862C>A (p.Ser954Arg) c.2790C>A (p.Ser930Arg) c.2724C>A (p.Ser908Arg) c.2085C>A (p.Ser695Arg) c.2703C>A (p.Ser901Arg) | |
| 9 | g.137813099C= | CA1884685702 | EHMT1 | c.2961C= (p.Ser987=) c.2847C= (p.Ser949=) c.2868C= (p.Ser956=) c.3001C= (n.3001C=) c.855C= (p.Ser285=) c.1818C= (p.Ser606=) c.648C= n.487C= c.2952C= (p.Ser984=) c.2943C= (p.Ser981=) c.2970C= (p.Ser990=) c.2967C= (p.Ser989=) c.2949C= (p.Ser983=) c.2892C= (p.Ser964=) c.2826C= (p.Ser942=) c.1392C= (p.Ser464=) c.744C= (p.Ser248=) c.531C= (p.Ser177=) c.2805C= (p.Ser935=) c.2940C= (p.Ser980=) c.2946C= (p.Ser982=) c.2862C= (p.Ser954=) c.2790C= (p.Ser930=) c.2724C= (p.Ser908=) c.2085C= (p.Ser695=) c.2703C= (p.Ser901=) | |
| 9 | g.137813099C>G | CA375793527 | EHMT1 | c.2961C>G (p.Ser987Arg) c.2847C>G (p.Ser949Arg) c.2868C>G (p.Ser956Arg) c.3001C>G (n.3001C>G) c.855C>G (p.Ser285Arg) c.1818C>G (p.Ser606Arg) c.648C>G n.487C>G c.2952C>G (p.Ser984Arg) c.2943C>G (p.Ser981Arg) c.2970C>G (p.Ser990Arg) c.2967C>G (p.Ser989Arg) c.2949C>G (p.Ser983Arg) c.2892C>G (p.Ser964Arg) c.2826C>G (p.Ser942Arg) c.1392C>G (p.Ser464Arg) c.744C>G (p.Ser248Arg) c.531C>G (p.Ser177Arg) c.2805C>G (p.Ser935Arg) c.2940C>G (p.Ser980Arg) c.2946C>G (p.Ser982Arg) c.2862C>G (p.Ser954Arg) c.2790C>G (p.Ser930Arg) c.2724C>G (p.Ser908Arg) c.2085C>G (p.Ser695Arg) c.2703C>G (p.Ser901Arg) | |
| 9 | g.137813099C>T | CA201843263 | EHMT1 | c.2961C>T (p.Ser987=) c.2847C>T (p.Ser949=) c.2868C>T (p.Ser956=) c.3001C>T (n.3001C>T) c.855C>T (p.Ser285=) c.1818C>T (p.Ser606=) c.648C>T n.487C>T c.2952C>T (p.Ser984=) c.2943C>T (p.Ser981=) c.2970C>T (p.Ser990=) c.2967C>T (p.Ser989=) c.2949C>T (p.Ser983=) c.2892C>T (p.Ser964=) c.2826C>T (p.Ser942=) c.1392C>T (p.Ser464=) c.744C>T (p.Ser248=) c.531C>T (p.Ser177=) c.2805C>T (p.Ser935=) c.2940C>T (p.Ser980=) c.2946C>T (p.Ser982=) c.2862C>T (p.Ser954=) c.2790C>T (p.Ser930=) c.2724C>T (p.Ser908=) c.2085C>T (p.Ser695=) c.2703C>T (p.Ser901=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813100G>A | CA5375116 | EHMT1 | c.2962G>A (p.Ala988Thr) c.2848G>A (p.Ala950Thr) c.2869G>A (p.Ala957Thr) c.3002G>A (n.3002G>A) c.856G>A (p.Ala286Thr) c.1819G>A (p.Ala607Thr) c.649G>A n.488G>A c.2953G>A (p.Ala985Thr) c.2944G>A (p.Ala982Thr) c.2971G>A (p.Ala991Thr) c.2968G>A (p.Ala990Thr) c.2950G>A (p.Ala984Thr) c.2893G>A (p.Ala965Thr) c.2827G>A (p.Ala943Thr) c.1393G>A (p.Ala465Thr) c.745G>A (p.Ala249Thr) c.532G>A (p.Ala178Thr) c.2806G>A (p.Ala936Thr) c.2941G>A (p.Ala981Thr) c.2947G>A (p.Ala983Thr) c.2863G>A (p.Ala955Thr) c.2791G>A (p.Ala931Thr) c.2725G>A (p.Ala909Thr) c.2086G>A (p.Ala696Thr) c.2704G>A (p.Ala902Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137813100G>C | CA375793529 | EHMT1 | c.2962G>C (p.Ala988Pro) c.2848G>C (p.Ala950Pro) c.2869G>C (p.Ala957Pro) c.3002G>C (n.3002G>C) c.856G>C (p.Ala286Pro) c.1819G>C (p.Ala607Pro) c.649G>C n.488G>C c.2953G>C (p.Ala985Pro) c.2944G>C (p.Ala982Pro) c.2971G>C (p.Ala991Pro) c.2968G>C (p.Ala990Pro) c.2950G>C (p.Ala984Pro) c.2893G>C (p.Ala965Pro) c.2827G>C (p.Ala943Pro) c.1393G>C (p.Ala465Pro) c.745G>C (p.Ala249Pro) c.532G>C (p.Ala178Pro) c.2806G>C (p.Ala936Pro) c.2941G>C (p.Ala981Pro) c.2947G>C (p.Ala983Pro) c.2863G>C (p.Ala955Pro) c.2791G>C (p.Ala931Pro) c.2725G>C (p.Ala909Pro) c.2086G>C (p.Ala696Pro) c.2704G>C (p.Ala902Pro) | |
| 9 | g.137813100G= | CA1884685703 | EHMT1 | c.2962G= (p.Ala988=) c.2848G= (p.Ala950=) c.2869G= (p.Ala957=) c.3002G= (n.3002G=) c.856G= (p.Ala286=) c.1819G= (p.Ala607=) c.649G= n.488G= c.2953G= (p.Ala985=) c.2944G= (p.Ala982=) c.2971G= (p.Ala991=) c.2968G= (p.Ala990=) c.2950G= (p.Ala984=) c.2893G= (p.Ala965=) c.2827G= (p.Ala943=) c.1393G= (p.Ala465=) c.745G= (p.Ala249=) c.532G= (p.Ala178=) c.2806G= (p.Ala936=) c.2941G= (p.Ala981=) c.2947G= (p.Ala983=) c.2863G= (p.Ala955=) c.2791G= (p.Ala931=) c.2725G= (p.Ala909=) c.2086G= (p.Ala696=) c.2704G= (p.Ala902=) | |
| 9 | g.137813100G>T | CA375793531 | EHMT1 | c.2962G>T (p.Ala988Ser) c.2848G>T (p.Ala950Ser) c.2869G>T (p.Ala957Ser) c.3002G>T (n.3002G>T) c.856G>T (p.Ala286Ser) c.1819G>T (p.Ala607Ser) c.649G>T n.488G>T c.2953G>T (p.Ala985Ser) c.2944G>T (p.Ala982Ser) c.2971G>T (p.Ala991Ser) c.2968G>T (p.Ala990Ser) c.2950G>T (p.Ala984Ser) c.2893G>T (p.Ala965Ser) c.2827G>T (p.Ala943Ser) c.1393G>T (p.Ala465Ser) c.745G>T (p.Ala249Ser) c.532G>T (p.Ala178Ser) c.2806G>T (p.Ala936Ser) c.2941G>T (p.Ala981Ser) c.2947G>T (p.Ala983Ser) c.2863G>T (p.Ala955Ser) c.2791G>T (p.Ala931Ser) c.2725G>T (p.Ala909Ser) c.2086G>T (p.Ala696Ser) c.2704G>T (p.Ala902Ser) | |
| 9 | g.137813109_137813126dup | CA2692890675 | EHMT1 | c.2971_2988dup (p.Gln996_Asp997insMetSerLysAlaLeuGln) c.2857_2874dup (p.Gln958_Asp959insMetSerLysAlaLeuGln) c.2878_2895dup (p.Gln965_Asp966insMetSerLysAlaLeuGln) c.3011_3028dup (n.3011_3028dup) c.865_882dup (p.Gln294_Asp295insMetSerLysAlaLeuGln) c.1828_1845dup (p.Gln615_Asp616insMetSerLysAlaLeuGln) c.658_675dup n.497_514dup c.2962_2979dup (p.Gln993_Asp994insMetSerLysAlaLeuGln) c.2953_2970dup (p.Gln990_Asp991insMetSerLysAlaLeuGln) c.2980_2997dup (p.Gln999_Asp1000insMetSerLysAlaLeuGln) c.2977_2994dup (p.Gln998_Asp999insMetSerLysAlaLeuGln) c.2959_2976dup (p.Gln992_Asp993insMetSerLysAlaLeuGln) c.2902_2919dup (p.Gln973_Asp974insMetSerLysAlaLeuGln) c.2836_2853dup (p.Gln951_Asp952insMetSerLysAlaLeuGln) c.1402_1419dup (p.Gln473_Asp474insMetSerLysAlaLeuGln) c.754_771dup (p.Gln257_Asp258insMetSerLysAlaLeuGln) c.541_558dup (p.Gln186_Asp187insMetSerLysAlaLeuGln) c.2815_2832dup (p.Gln944_Asp945insMetSerLysAlaLeuGln) c.2950_2967dup (p.Gln989_Asp990insMetSerLysAlaLeuGln) c.2956_2973dup (p.Gln991_Asp992insMetSerLysAlaLeuGln) c.2872_2889dup (p.Gln963_Asp964insMetSerLysAlaLeuGln) c.2800_2817dup (p.Gln939_Asp940insMetSerLysAlaLeuGln) c.2734_2751dup (p.Gln917_Asp918insMetSerLysAlaLeuGln) c.2095_2112dup (p.Gln704_Asp705insMetSerLysAlaLeuGln) c.2713_2730dup (p.Gln910_Asp911insMetSerLysAlaLeuGln) | gnomAD v4 |
| 9 | g.137813101C>A | CA375793534 | EHMT1 | c.2963C>A (p.Ala988Asp) c.2849C>A (p.Ala950Asp) c.2870C>A (p.Ala957Asp) c.3003C>A (n.3003C>A) c.857C>A (p.Ala286Asp) c.1820C>A (p.Ala607Asp) c.650C>A n.489C>A c.2954C>A (p.Ala985Asp) c.2945C>A (p.Ala982Asp) c.2972C>A (p.Ala991Asp) c.2969C>A (p.Ala990Asp) c.2951C>A (p.Ala984Asp) c.2894C>A (p.Ala965Asp) c.2828C>A (p.Ala943Asp) c.1394C>A (p.Ala465Asp) c.746C>A (p.Ala249Asp) c.533C>A (p.Ala178Asp) c.2807C>A (p.Ala936Asp) c.2942C>A (p.Ala981Asp) c.2948C>A (p.Ala983Asp) c.2864C>A (p.Ala955Asp) c.2792C>A (p.Ala931Asp) c.2726C>A (p.Ala909Asp) c.2087C>A (p.Ala696Asp) c.2705C>A (p.Ala902Asp) | |
| 9 | g.137813101C= | CA1884685704 | EHMT1 | c.2963C= (p.Ala988=) c.2849C= (p.Ala950=) c.2870C= (p.Ala957=) c.3003C= (n.3003C=) c.857C= (p.Ala286=) c.1820C= (p.Ala607=) c.650C= n.489C= c.2954C= (p.Ala985=) c.2945C= (p.Ala982=) c.2972C= (p.Ala991=) c.2969C= (p.Ala990=) c.2951C= (p.Ala984=) c.2894C= (p.Ala965=) c.2828C= (p.Ala943=) c.1394C= (p.Ala465=) c.746C= (p.Ala249=) c.533C= (p.Ala178=) c.2807C= (p.Ala936=) c.2942C= (p.Ala981=) c.2948C= (p.Ala983=) c.2864C= (p.Ala955=) c.2792C= (p.Ala931=) c.2726C= (p.Ala909=) c.2087C= (p.Ala696=) c.2705C= (p.Ala902=) | |
| 9 | g.137813101C>G | CA375793536 | EHMT1 | c.2963C>G (p.Ala988Gly) c.2849C>G (p.Ala950Gly) c.2870C>G (p.Ala957Gly) c.3003C>G (n.3003C>G) c.857C>G (p.Ala286Gly) c.1820C>G (p.Ala607Gly) c.650C>G n.489C>G c.2954C>G (p.Ala985Gly) c.2945C>G (p.Ala982Gly) c.2972C>G (p.Ala991Gly) c.2969C>G (p.Ala990Gly) c.2951C>G (p.Ala984Gly) c.2894C>G (p.Ala965Gly) c.2828C>G (p.Ala943Gly) c.1394C>G (p.Ala465Gly) c.746C>G (p.Ala249Gly) c.533C>G (p.Ala178Gly) c.2807C>G (p.Ala936Gly) c.2942C>G (p.Ala981Gly) c.2948C>G (p.Ala983Gly) c.2864C>G (p.Ala955Gly) c.2792C>G (p.Ala931Gly) c.2726C>G (p.Ala909Gly) c.2087C>G (p.Ala696Gly) c.2705C>G (p.Ala902Gly) | |
| 9 | g.137813101C>T | CA375793538 | EHMT1 | c.2963C>T (p.Ala988Val) c.2849C>T (p.Ala950Val) c.2870C>T (p.Ala957Val) c.3003C>T (n.3003C>T) c.857C>T (p.Ala286Val) c.1820C>T (p.Ala607Val) c.650C>T n.489C>T c.2954C>T (p.Ala985Val) c.2945C>T (p.Ala982Val) c.2972C>T (p.Ala991Val) c.2969C>T (p.Ala990Val) c.2951C>T (p.Ala984Val) c.2894C>T (p.Ala965Val) c.2828C>T (p.Ala943Val) c.1394C>T (p.Ala465Val) c.746C>T (p.Ala249Val) c.533C>T (p.Ala178Val) c.2807C>T (p.Ala936Val) c.2942C>T (p.Ala981Val) c.2948C>T (p.Ala983Val) c.2864C>T (p.Ala955Val) c.2792C>T (p.Ala931Val) c.2726C>T (p.Ala909Val) c.2087C>T (p.Ala696Val) c.2705C>T (p.Ala902Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813102T>A | CA468161070 | EHMT1 | c.2964T>A (p.Ala988=) c.2850T>A (p.Ala950=) c.2871T>A (p.Ala957=) c.3004T>A (n.3004T>A) c.858T>A (p.Ala286=) c.1821T>A (p.Ala607=) c.651T>A n.490T>A c.2955T>A (p.Ala985=) c.2946T>A (p.Ala982=) c.2973T>A (p.Ala991=) c.2970T>A (p.Ala990=) c.2952T>A (p.Ala984=) c.2895T>A (p.Ala965=) c.2829T>A (p.Ala943=) c.1395T>A (p.Ala465=) c.747T>A (p.Ala249=) c.534T>A (p.Ala178=) c.2808T>A (p.Ala936=) c.2943T>A (p.Ala981=) c.2949T>A (p.Ala983=) c.2865T>A (p.Ala955=) c.2793T>A (p.Ala931=) c.2727T>A (p.Ala909=) c.2088T>A (p.Ala696=) c.2706T>A (p.Ala902=) | |
| 9 | g.137813102T>C | CA468161071 | EHMT1 | c.2964T>C (p.Ala988=) c.2850T>C (p.Ala950=) c.2871T>C (p.Ala957=) c.3004T>C (n.3004T>C) c.858T>C (p.Ala286=) c.1821T>C (p.Ala607=) c.651T>C n.490T>C c.2955T>C (p.Ala985=) c.2946T>C (p.Ala982=) c.2973T>C (p.Ala991=) c.2970T>C (p.Ala990=) c.2952T>C (p.Ala984=) c.2895T>C (p.Ala965=) c.2829T>C (p.Ala943=) c.1395T>C (p.Ala465=) c.747T>C (p.Ala249=) c.534T>C (p.Ala178=) c.2808T>C (p.Ala936=) c.2943T>C (p.Ala981=) c.2949T>C (p.Ala983=) c.2865T>C (p.Ala955=) c.2793T>C (p.Ala931=) c.2727T>C (p.Ala909=) c.2088T>C (p.Ala696=) c.2706T>C (p.Ala902=) | |
| 9 | g.137813102T>G | CA468161072 | EHMT1 | c.2964T>G (p.Ala988=) c.2850T>G (p.Ala950=) c.2871T>G (p.Ala957=) c.3004T>G (n.3004T>G) c.858T>G (p.Ala286=) c.1821T>G (p.Ala607=) c.651T>G n.490T>G c.2955T>G (p.Ala985=) c.2946T>G (p.Ala982=) c.2973T>G (p.Ala991=) c.2970T>G (p.Ala990=) c.2952T>G (p.Ala984=) c.2895T>G (p.Ala965=) c.2829T>G (p.Ala943=) c.1395T>G (p.Ala465=) c.747T>G (p.Ala249=) c.534T>G (p.Ala178=) c.2808T>G (p.Ala936=) c.2943T>G (p.Ala981=) c.2949T>G (p.Ala983=) c.2865T>G (p.Ala955=) c.2793T>G (p.Ala931=) c.2727T>G (p.Ala909=) c.2088T>G (p.Ala696=) c.2706T>G (p.Ala902=) | COSMIC COSMIC |
| 9 | g.137813103C>A | CA375793541 | EHMT1 | c.2965C>A (p.Leu989Met) c.2851C>A (p.Leu951Met) c.2872C>A (p.Leu958Met) c.3005C>A (n.3005C>A) c.859C>A (p.Leu287Met) c.1822C>A (p.Leu608Met) c.652C>A n.491C>A c.2956C>A (p.Leu986Met) c.2947C>A (p.Leu983Met) c.2974C>A (p.Leu992Met) c.2971C>A (p.Leu991Met) c.2953C>A (p.Leu985Met) c.2896C>A (p.Leu966Met) c.2830C>A (p.Leu944Met) c.1396C>A (p.Leu466Met) c.748C>A (p.Leu250Met) c.535C>A (p.Leu179Met) c.2809C>A (p.Leu937Met) c.2944C>A (p.Leu982Met) c.2950C>A (p.Leu984Met) c.2866C>A (p.Leu956Met) c.2794C>A (p.Leu932Met) c.2728C>A (p.Leu910Met) c.2089C>A (p.Leu697Met) c.2707C>A (p.Leu903Met) | gnomAD v4 |
| 9 | g.137813103C= | CA1884685705 | EHMT1 | c.2965C= (p.Leu989=) c.2851C= (p.Leu951=) c.2872C= (p.Leu958=) c.3005C= (n.3005C=) c.859C= (p.Leu287=) c.1822C= (p.Leu608=) c.652C= n.491C= c.2956C= (p.Leu986=) c.2947C= (p.Leu983=) c.2974C= (p.Leu992=) c.2971C= (p.Leu991=) c.2953C= (p.Leu985=) c.2896C= (p.Leu966=) c.2830C= (p.Leu944=) c.1396C= (p.Leu466=) c.748C= (p.Leu250=) c.535C= (p.Leu179=) c.2809C= (p.Leu937=) c.2944C= (p.Leu982=) c.2950C= (p.Leu984=) c.2866C= (p.Leu956=) c.2794C= (p.Leu932=) c.2728C= (p.Leu910=) c.2089C= (p.Leu697=) c.2707C= (p.Leu903=) | |
| 9 | g.137813103C>G | CA375793543 | EHMT1 | c.2965C>G (p.Leu989Val) c.2851C>G (p.Leu951Val) c.2872C>G (p.Leu958Val) c.3005C>G (n.3005C>G) c.859C>G (p.Leu287Val) c.1822C>G (p.Leu608Val) c.652C>G n.491C>G c.2956C>G (p.Leu986Val) c.2947C>G (p.Leu983Val) c.2974C>G (p.Leu992Val) c.2971C>G (p.Leu991Val) c.2953C>G (p.Leu985Val) c.2896C>G (p.Leu966Val) c.2830C>G (p.Leu944Val) c.1396C>G (p.Leu466Val) c.748C>G (p.Leu250Val) c.535C>G (p.Leu179Val) c.2809C>G (p.Leu937Val) c.2944C>G (p.Leu982Val) c.2950C>G (p.Leu984Val) c.2866C>G (p.Leu956Val) c.2794C>G (p.Leu932Val) c.2728C>G (p.Leu910Val) c.2089C>G (p.Leu697Val) c.2707C>G (p.Leu903Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137813103C>T | CA468161073 | EHMT1 | c.2965C>T (p.Leu989=) c.2851C>T (p.Leu951=) c.2872C>T (p.Leu958=) c.3005C>T (n.3005C>T) c.859C>T (p.Leu287=) c.1822C>T (p.Leu608=) c.652C>T n.491C>T c.2956C>T (p.Leu986=) c.2947C>T (p.Leu983=) c.2974C>T (p.Leu992=) c.2971C>T (p.Leu991=) c.2953C>T (p.Leu985=) c.2896C>T (p.Leu966=) c.2830C>T (p.Leu944=) c.1396C>T (p.Leu466=) c.748C>T (p.Leu250=) c.535C>T (p.Leu179=) c.2809C>T (p.Leu937=) c.2944C>T (p.Leu982=) c.2950C>T (p.Leu984=) c.2866C>T (p.Leu956=) c.2794C>T (p.Leu932=) c.2728C>T (p.Leu910=) c.2089C>T (p.Leu697=) c.2707C>T (p.Leu903=) | |
| 9 | g.137813104T>A | CA375793544 | EHMT1 | c.2966T>A (p.Leu989Gln) c.2852T>A (p.Leu951Gln) c.2873T>A (p.Leu958Gln) c.3006T>A (n.3006T>A) c.860T>A (p.Leu287Gln) c.1823T>A (p.Leu608Gln) c.653T>A n.492T>A c.2957T>A (p.Leu986Gln) c.2948T>A (p.Leu983Gln) c.2975T>A (p.Leu992Gln) c.2972T>A (p.Leu991Gln) c.2954T>A (p.Leu985Gln) c.2897T>A (p.Leu966Gln) c.2831T>A (p.Leu944Gln) c.1397T>A (p.Leu466Gln) c.749T>A (p.Leu250Gln) c.536T>A (p.Leu179Gln) c.2810T>A (p.Leu937Gln) c.2945T>A (p.Leu982Gln) c.2951T>A (p.Leu984Gln) c.2867T>A (p.Leu956Gln) c.2795T>A (p.Leu932Gln) c.2729T>A (p.Leu910Gln) c.2090T>A (p.Leu697Gln) c.2708T>A (p.Leu903Gln) | |
| 9 | g.137813104T>C | CA375793546 | EHMT1 | c.2966T>C (p.Leu989Pro) c.2852T>C (p.Leu951Pro) c.2873T>C (p.Leu958Pro) c.3006T>C (n.3006T>C) c.860T>C (p.Leu287Pro) c.1823T>C (p.Leu608Pro) c.653T>C n.492T>C c.2957T>C (p.Leu986Pro) c.2948T>C (p.Leu983Pro) c.2975T>C (p.Leu992Pro) c.2972T>C (p.Leu991Pro) c.2954T>C (p.Leu985Pro) c.2897T>C (p.Leu966Pro) c.2831T>C (p.Leu944Pro) c.1397T>C (p.Leu466Pro) c.749T>C (p.Leu250Pro) c.536T>C (p.Leu179Pro) c.2810T>C (p.Leu937Pro) c.2945T>C (p.Leu982Pro) c.2951T>C (p.Leu984Pro) c.2867T>C (p.Leu956Pro) c.2795T>C (p.Leu932Pro) c.2729T>C (p.Leu910Pro) c.2090T>C (p.Leu697Pro) c.2708T>C (p.Leu903Pro) | |
| 9 | g.137813104T>G | CA375793548 | EHMT1 | c.2966T>G (p.Leu989Arg) c.2852T>G (p.Leu951Arg) c.2873T>G (p.Leu958Arg) c.3006T>G (n.3006T>G) c.860T>G (p.Leu287Arg) c.1823T>G (p.Leu608Arg) c.653T>G n.492T>G c.2957T>G (p.Leu986Arg) c.2948T>G (p.Leu983Arg) c.2975T>G (p.Leu992Arg) c.2972T>G (p.Leu991Arg) c.2954T>G (p.Leu985Arg) c.2897T>G (p.Leu966Arg) c.2831T>G (p.Leu944Arg) c.1397T>G (p.Leu466Arg) c.749T>G (p.Leu250Arg) c.536T>G (p.Leu179Arg) c.2810T>G (p.Leu937Arg) c.2945T>G (p.Leu982Arg) c.2951T>G (p.Leu984Arg) c.2867T>G (p.Leu956Arg) c.2795T>G (p.Leu932Arg) c.2729T>G (p.Leu910Arg) c.2090T>G (p.Leu697Arg) c.2708T>G (p.Leu903Arg) | |
| 9 | g.137813105G>A | CA201843272 | EHMT1 | c.2967G>A (p.Leu989=) c.2853G>A (p.Leu951=) c.2874G>A (p.Leu958=) c.3007G>A (n.3007G>A) c.861G>A (p.Leu287=) c.1824G>A (p.Leu608=) c.654G>A n.493G>A c.2958G>A (p.Leu986=) c.2949G>A (p.Leu983=) c.2976G>A (p.Leu992=) c.2973G>A (p.Leu991=) c.2955G>A (p.Leu985=) c.2898G>A (p.Leu966=) c.2832G>A (p.Leu944=) c.1398G>A (p.Leu466=) c.750G>A (p.Leu250=) c.537G>A (p.Leu179=) c.2811G>A (p.Leu937=) c.2946G>A (p.Leu982=) c.2952G>A (p.Leu984=) c.2868G>A (p.Leu956=) c.2796G>A (p.Leu932=) c.2730G>A (p.Leu910=) c.2091G>A (p.Leu697=) c.2709G>A (p.Leu903=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813105G>C | CA468161074 | EHMT1 | c.2967G>C (p.Leu989=) c.2853G>C (p.Leu951=) c.2874G>C (p.Leu958=) c.3007G>C (n.3007G>C) c.861G>C (p.Leu287=) c.1824G>C (p.Leu608=) c.654G>C n.493G>C c.2958G>C (p.Leu986=) c.2949G>C (p.Leu983=) c.2976G>C (p.Leu992=) c.2973G>C (p.Leu991=) c.2955G>C (p.Leu985=) c.2898G>C (p.Leu966=) c.2832G>C (p.Leu944=) c.1398G>C (p.Leu466=) c.750G>C (p.Leu250=) c.537G>C (p.Leu179=) c.2811G>C (p.Leu937=) c.2946G>C (p.Leu982=) c.2952G>C (p.Leu984=) c.2868G>C (p.Leu956=) c.2796G>C (p.Leu932=) c.2730G>C (p.Leu910=) c.2091G>C (p.Leu697=) c.2709G>C (p.Leu903=) | |
| 9 | g.137813105G= | CA1884685706 | EHMT1 | c.2967G= (p.Leu989=) c.2853G= (p.Leu951=) c.2874G= (p.Leu958=) c.3007G= (n.3007G=) c.861G= (p.Leu287=) c.1824G= (p.Leu608=) c.654G= n.493G= c.2958G= (p.Leu986=) c.2949G= (p.Leu983=) c.2976G= (p.Leu992=) c.2973G= (p.Leu991=) c.2955G= (p.Leu985=) c.2898G= (p.Leu966=) c.2832G= (p.Leu944=) c.1398G= (p.Leu466=) c.750G= (p.Leu250=) c.537G= (p.Leu179=) c.2811G= (p.Leu937=) c.2946G= (p.Leu982=) c.2952G= (p.Leu984=) c.2868G= (p.Leu956=) c.2796G= (p.Leu932=) c.2730G= (p.Leu910=) c.2091G= (p.Leu697=) c.2709G= (p.Leu903=) | |
| 9 | g.137813105G>T | CA468161075 | EHMT1 | c.2967G>T (p.Leu989=) c.2853G>T (p.Leu951=) c.2874G>T (p.Leu958=) c.3007G>T (n.3007G>T) c.861G>T (p.Leu287=) c.1824G>T (p.Leu608=) c.654G>T n.493G>T c.2958G>T (p.Leu986=) c.2949G>T (p.Leu983=) c.2976G>T (p.Leu992=) c.2973G>T (p.Leu991=) c.2955G>T (p.Leu985=) c.2898G>T (p.Leu966=) c.2832G>T (p.Leu944=) c.1398G>T (p.Leu466=) c.750G>T (p.Leu250=) c.537G>T (p.Leu179=) c.2811G>T (p.Leu937=) c.2946G>T (p.Leu982=) c.2952G>T (p.Leu984=) c.2868G>T (p.Leu956=) c.2796G>T (p.Leu932=) c.2730G>T (p.Leu910=) c.2091G>T (p.Leu697=) c.2709G>T (p.Leu903=) | gnomAD v4 |
| 9 | g.137813106C>A | CA375793556 | EHMT1 | c.2968C>A (p.Gln990Lys) c.2854C>A (p.Gln952Lys) c.2875C>A (p.Gln959Lys) c.3008C>A (n.3008C>A) c.862C>A (p.Gln288Lys) c.1825C>A (p.Gln609Lys) c.655C>A n.494C>A c.2959C>A (p.Gln987Lys) c.2950C>A (p.Gln984Lys) c.2977C>A (p.Gln993Lys) c.2974C>A (p.Gln992Lys) c.2956C>A (p.Gln986Lys) c.2899C>A (p.Gln967Lys) c.2833C>A (p.Gln945Lys) c.1399C>A (p.Gln467Lys) c.751C>A (p.Gln251Lys) c.538C>A (p.Gln180Lys) c.2812C>A (p.Gln938Lys) c.2947C>A (p.Gln983Lys) c.2953C>A (p.Gln985Lys) c.2869C>A (p.Gln957Lys) c.2797C>A (p.Gln933Lys) c.2731C>A (p.Gln911Lys) c.2092C>A (p.Gln698Lys) c.2710C>A (p.Gln904Lys) | |
| 9 | g.137813106C>G | CA375793552 | EHMT1 | c.2968C>G (p.Gln990Glu) c.2854C>G (p.Gln952Glu) c.2875C>G (p.Gln959Glu) c.3008C>G (n.3008C>G) c.862C>G (p.Gln288Glu) c.1825C>G (p.Gln609Glu) c.655C>G n.494C>G c.2959C>G (p.Gln987Glu) c.2950C>G (p.Gln984Glu) c.2977C>G (p.Gln993Glu) c.2974C>G (p.Gln992Glu) c.2956C>G (p.Gln986Glu) c.2899C>G (p.Gln967Glu) c.2833C>G (p.Gln945Glu) c.1399C>G (p.Gln467Glu) c.751C>G (p.Gln251Glu) c.538C>G (p.Gln180Glu) c.2812C>G (p.Gln938Glu) c.2947C>G (p.Gln983Glu) c.2953C>G (p.Gln985Glu) c.2869C>G (p.Gln957Glu) c.2797C>G (p.Gln933Glu) c.2731C>G (p.Gln911Glu) c.2092C>G (p.Gln698Glu) c.2710C>G (p.Gln904Glu) | |
| 9 | g.137813106C>T | CA375793554 | EHMT1 | c.2968C>T (p.Gln990Ter) c.2854C>T (p.Gln952Ter) c.2875C>T (p.Gln959Ter) c.3008C>T (n.3008C>T) c.862C>T (p.Gln288Ter) c.1825C>T (p.Gln609Ter) c.655C>T n.494C>T c.2959C>T (p.Gln987Ter) c.2950C>T (p.Gln984Ter) c.2977C>T (p.Gln993Ter) c.2974C>T (p.Gln992Ter) c.2956C>T (p.Gln986Ter) c.2899C>T (p.Gln967Ter) c.2833C>T (p.Gln945Ter) c.1399C>T (p.Gln467Ter) c.751C>T (p.Gln251Ter) c.538C>T (p.Gln180Ter) c.2812C>T (p.Gln938Ter) c.2947C>T (p.Gln983Ter) c.2953C>T (p.Gln985Ter) c.2869C>T (p.Gln957Ter) c.2797C>T (p.Gln933Ter) c.2731C>T (p.Gln911Ter) c.2092C>T (p.Gln698Ter) c.2710C>T (p.Gln904Ter) | ClinVar gnomAD v4 |
| 9 | g.137813107A= | CA1884685707 | EHMT1 | c.2969A= (p.Gln990=) c.2855A= (p.Gln952=) c.2876A= (p.Gln959=) c.3009A= (n.3009A=) c.863A= (p.Gln288=) c.1826A= (p.Gln609=) c.656A= n.495A= c.2960A= (p.Gln987=) c.2951A= (p.Gln984=) c.2978A= (p.Gln993=) c.2975A= (p.Gln992=) c.2957A= (p.Gln986=) c.2900A= (p.Gln967=) c.2834A= (p.Gln945=) c.1400A= (p.Gln467=) c.752A= (p.Gln251=) c.539A= (p.Gln180=) c.2813A= (p.Gln938=) c.2948A= (p.Gln983=) c.2954A= (p.Gln985=) c.2870A= (p.Gln957=) c.2798A= (p.Gln933=) c.2732A= (p.Gln911=) c.2093A= (p.Gln698=) c.2711A= (p.Gln904=) | |
| 9 | g.137813107A>C | CA375793558 | EHMT1 | c.2969A>C (p.Gln990Pro) c.2855A>C (p.Gln952Pro) c.2876A>C (p.Gln959Pro) c.3009A>C (n.3009A>C) c.863A>C (p.Gln288Pro) c.1826A>C (p.Gln609Pro) c.656A>C n.495A>C c.2960A>C (p.Gln987Pro) c.2951A>C (p.Gln984Pro) c.2978A>C (p.Gln993Pro) c.2975A>C (p.Gln992Pro) c.2957A>C (p.Gln986Pro) c.2900A>C (p.Gln967Pro) c.2834A>C (p.Gln945Pro) c.1400A>C (p.Gln467Pro) c.752A>C (p.Gln251Pro) c.539A>C (p.Gln180Pro) c.2813A>C (p.Gln938Pro) c.2948A>C (p.Gln983Pro) c.2954A>C (p.Gln985Pro) c.2870A>C (p.Gln957Pro) c.2798A>C (p.Gln933Pro) c.2732A>C (p.Gln911Pro) c.2093A>C (p.Gln698Pro) c.2711A>C (p.Gln904Pro) | |
| 9 | g.137813107A>G | CA375793560 | EHMT1 | c.2969A>G (p.Gln990Arg) c.2855A>G (p.Gln952Arg) c.2876A>G (p.Gln959Arg) c.3009A>G (n.3009A>G) c.863A>G (p.Gln288Arg) c.1826A>G (p.Gln609Arg) c.656A>G n.495A>G c.2960A>G (p.Gln987Arg) c.2951A>G (p.Gln984Arg) c.2978A>G (p.Gln993Arg) c.2975A>G (p.Gln992Arg) c.2957A>G (p.Gln986Arg) c.2900A>G (p.Gln967Arg) c.2834A>G (p.Gln945Arg) c.1400A>G (p.Gln467Arg) c.752A>G (p.Gln251Arg) c.539A>G (p.Gln180Arg) c.2813A>G (p.Gln938Arg) c.2948A>G (p.Gln983Arg) c.2954A>G (p.Gln985Arg) c.2870A>G (p.Gln957Arg) c.2798A>G (p.Gln933Arg) c.2732A>G (p.Gln911Arg) c.2093A>G (p.Gln698Arg) c.2711A>G (p.Gln904Arg) | dbSNP |
| 9 | g.137813107A>T | CA375793562 | EHMT1 | c.2969A>T (p.Gln990Leu) c.2855A>T (p.Gln952Leu) c.2876A>T (p.Gln959Leu) c.3009A>T (n.3009A>T) c.863A>T (p.Gln288Leu) c.1826A>T (p.Gln609Leu) c.656A>T n.495A>T c.2960A>T (p.Gln987Leu) c.2951A>T (p.Gln984Leu) c.2978A>T (p.Gln993Leu) c.2975A>T (p.Gln992Leu) c.2957A>T (p.Gln986Leu) c.2900A>T (p.Gln967Leu) c.2834A>T (p.Gln945Leu) c.1400A>T (p.Gln467Leu) c.752A>T (p.Gln251Leu) c.539A>T (p.Gln180Leu) c.2813A>T (p.Gln938Leu) c.2948A>T (p.Gln983Leu) c.2954A>T (p.Gln985Leu) c.2870A>T (p.Gln957Leu) c.2798A>T (p.Gln933Leu) c.2732A>T (p.Gln911Leu) c.2093A>T (p.Gln698Leu) c.2711A>T (p.Gln904Leu) | |
| 9 | g.137813108G>A | CA468161076 | EHMT1 | c.2970G>A (p.Gln990=) c.2856G>A (p.Gln952=) c.2877G>A (p.Gln959=) c.3010G>A (n.3010G>A) c.864G>A (p.Gln288=) c.1827G>A (p.Gln609=) c.657G>A n.496G>A c.2961G>A (p.Gln987=) c.2952G>A (p.Gln984=) c.2979G>A (p.Gln993=) c.2976G>A (p.Gln992=) c.2958G>A (p.Gln986=) c.2901G>A (p.Gln967=) c.2835G>A (p.Gln945=) c.1401G>A (p.Gln467=) c.753G>A (p.Gln251=) c.540G>A (p.Gln180=) c.2814G>A (p.Gln938=) c.2949G>A (p.Gln983=) c.2955G>A (p.Gln985=) c.2871G>A (p.Gln957=) c.2799G>A (p.Gln933=) c.2733G>A (p.Gln911=) c.2094G>A (p.Gln698=) c.2712G>A (p.Gln904=) | |
| 9 | g.137813108G>C | CA375793564 | EHMT1 | c.2970G>C (p.Gln990His) c.2856G>C (p.Gln952His) c.2877G>C (p.Gln959His) c.3010G>C (n.3010G>C) c.864G>C (p.Gln288His) c.1827G>C (p.Gln609His) c.657G>C n.496G>C c.2961G>C (p.Gln987His) c.2952G>C (p.Gln984His) c.2979G>C (p.Gln993His) c.2976G>C (p.Gln992His) c.2958G>C (p.Gln986His) c.2901G>C (p.Gln967His) c.2835G>C (p.Gln945His) c.1401G>C (p.Gln467His) c.753G>C (p.Gln251His) c.540G>C (p.Gln180His) c.2814G>C (p.Gln938His) c.2949G>C (p.Gln983His) c.2955G>C (p.Gln985His) c.2871G>C (p.Gln957His) c.2799G>C (p.Gln933His) c.2733G>C (p.Gln911His) c.2094G>C (p.Gln698His) c.2712G>C (p.Gln904His) | |
| 9 | g.137813108G= | CA1884685708 | EHMT1 | c.2970G= (p.Gln990=) c.2856G= (p.Gln952=) c.2877G= (p.Gln959=) c.3010G= (n.3010G=) c.864G= (p.Gln288=) c.1827G= (p.Gln609=) c.657G= n.496G= c.2961G= (p.Gln987=) c.2952G= (p.Gln984=) c.2979G= (p.Gln993=) c.2976G= (p.Gln992=) c.2958G= (p.Gln986=) c.2901G= (p.Gln967=) c.2835G= (p.Gln945=) c.1401G= (p.Gln467=) c.753G= (p.Gln251=) c.540G= (p.Gln180=) c.2814G= (p.Gln938=) c.2949G= (p.Gln983=) c.2955G= (p.Gln985=) c.2871G= (p.Gln957=) c.2799G= (p.Gln933=) c.2733G= (p.Gln911=) c.2094G= (p.Gln698=) c.2712G= (p.Gln904=) | |
| 9 | g.137813108G>T | CA5375117 | EHMT1 | c.2970G>T (p.Gln990His) c.2856G>T (p.Gln952His) c.2877G>T (p.Gln959His) c.3010G>T (n.3010G>T) c.864G>T (p.Gln288His) c.1827G>T (p.Gln609His) c.657G>T n.496G>T c.2961G>T (p.Gln987His) c.2952G>T (p.Gln984His) c.2979G>T (p.Gln993His) c.2976G>T (p.Gln992His) c.2958G>T (p.Gln986His) c.2901G>T (p.Gln967His) c.2835G>T (p.Gln945His) c.1401G>T (p.Gln467His) c.753G>T (p.Gln251His) c.540G>T (p.Gln180His) c.2814G>T (p.Gln938His) c.2949G>T (p.Gln983His) c.2955G>T (p.Gln985His) c.2871G>T (p.Gln957His) c.2799G>T (p.Gln933His) c.2733G>T (p.Gln911His) c.2094G>T (p.Gln698His) c.2712G>T (p.Gln904His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.137813109A= | CA1884685709 | EHMT1 | c.2971A= (p.Met991=) c.2857A= (p.Met953=) c.2878A= (p.Met960=) c.3011A= (n.3011A=) c.865A= (p.Met289=) c.1828A= (p.Met610=) c.658A= n.497A= c.2962A= (p.Met988=) c.2953A= (p.Met985=) c.2980A= (p.Met994=) c.2977A= (p.Met993=) c.2959A= (p.Met987=) c.2902A= (p.Met968=) c.2836A= (p.Met946=) c.1402A= (p.Met468=) c.754A= (p.Met252=) c.541A= (p.Met181=) c.2815A= (p.Met939=) c.2950A= (p.Met984=) c.2956A= (p.Met986=) c.2872A= (p.Met958=) c.2800A= (p.Met934=) c.2734A= (p.Met912=) c.2095A= (p.Met699=) c.2713A= (p.Met905=) | |
| 9 | g.137813109A>C | CA375793567 | EHMT1 | c.2971A>C (p.Met991Leu) c.2857A>C (p.Met953Leu) c.2878A>C (p.Met960Leu) c.3011A>C (n.3011A>C) c.865A>C (p.Met289Leu) c.1828A>C (p.Met610Leu) c.658A>C n.497A>C c.2962A>C (p.Met988Leu) c.2953A>C (p.Met985Leu) c.2980A>C (p.Met994Leu) c.2977A>C (p.Met993Leu) c.2959A>C (p.Met987Leu) c.2902A>C (p.Met968Leu) c.2836A>C (p.Met946Leu) c.1402A>C (p.Met468Leu) c.754A>C (p.Met252Leu) c.541A>C (p.Met181Leu) c.2815A>C (p.Met939Leu) c.2950A>C (p.Met984Leu) c.2956A>C (p.Met986Leu) c.2872A>C (p.Met958Leu) c.2800A>C (p.Met934Leu) c.2734A>C (p.Met912Leu) c.2095A>C (p.Met699Leu) c.2713A>C (p.Met905Leu) | |
| 9 | g.137813109A>G | CA375793569 | EHMT1 | c.2971A>G (p.Met991Val) c.2857A>G (p.Met953Val) c.2878A>G (p.Met960Val) c.3011A>G (n.3011A>G) c.865A>G (p.Met289Val) c.1828A>G (p.Met610Val) c.658A>G n.497A>G c.2962A>G (p.Met988Val) c.2953A>G (p.Met985Val) c.2980A>G (p.Met994Val) c.2977A>G (p.Met993Val) c.2959A>G (p.Met987Val) c.2902A>G (p.Met968Val) c.2836A>G (p.Met946Val) c.1402A>G (p.Met468Val) c.754A>G (p.Met252Val) c.541A>G (p.Met181Val) c.2815A>G (p.Met939Val) c.2950A>G (p.Met984Val) c.2956A>G (p.Met986Val) c.2872A>G (p.Met958Val) c.2800A>G (p.Met934Val) c.2734A>G (p.Met912Val) c.2095A>G (p.Met699Val) c.2713A>G (p.Met905Val) | |
| 9 | g.137813109A>T | CA201843276 | EHMT1 | c.2971A>T (p.Met991Leu) c.2857A>T (p.Met953Leu) c.2878A>T (p.Met960Leu) c.3011A>T (n.3011A>T) c.865A>T (p.Met289Leu) c.1828A>T (p.Met610Leu) c.658A>T n.497A>T c.2962A>T (p.Met988Leu) c.2953A>T (p.Met985Leu) c.2980A>T (p.Met994Leu) c.2977A>T (p.Met993Leu) c.2959A>T (p.Met987Leu) c.2902A>T (p.Met968Leu) c.2836A>T (p.Met946Leu) c.1402A>T (p.Met468Leu) c.754A>T (p.Met252Leu) c.541A>T (p.Met181Leu) c.2815A>T (p.Met939Leu) c.2950A>T (p.Met984Leu) c.2956A>T (p.Met986Leu) c.2872A>T (p.Met958Leu) c.2800A>T (p.Met934Leu) c.2734A>T (p.Met912Leu) c.2095A>T (p.Met699Leu) c.2713A>T (p.Met905Leu) | dbSNP |
| 9 | g.137813110T>A | CA375793574 | EHMT1 | c.2972T>A (p.Met991Lys) c.2858T>A (p.Met953Lys) c.2879T>A (p.Met960Lys) c.3012T>A (n.3012T>A) c.866T>A (p.Met289Lys) c.1829T>A (p.Met610Lys) c.659T>A n.498T>A c.2963T>A (p.Met988Lys) c.2954T>A (p.Met985Lys) c.2981T>A (p.Met994Lys) c.2978T>A (p.Met993Lys) c.2960T>A (p.Met987Lys) c.2903T>A (p.Met968Lys) c.2837T>A (p.Met946Lys) c.1403T>A (p.Met468Lys) c.755T>A (p.Met252Lys) c.542T>A (p.Met181Lys) c.2816T>A (p.Met939Lys) c.2951T>A (p.Met984Lys) c.2957T>A (p.Met986Lys) c.2873T>A (p.Met958Lys) c.2801T>A (p.Met934Lys) c.2735T>A (p.Met912Lys) c.2096T>A (p.Met699Lys) c.2714T>A (p.Met905Lys) | |
| 9 | g.137813110T>C | CA375793576 | EHMT1 | c.2972T>C (p.Met991Thr) c.2858T>C (p.Met953Thr) c.2879T>C (p.Met960Thr) c.3012T>C (n.3012T>C) c.866T>C (p.Met289Thr) c.1829T>C (p.Met610Thr) c.659T>C n.498T>C c.2963T>C (p.Met988Thr) c.2954T>C (p.Met985Thr) c.2981T>C (p.Met994Thr) c.2978T>C (p.Met993Thr) c.2960T>C (p.Met987Thr) c.2903T>C (p.Met968Thr) c.2837T>C (p.Met946Thr) c.1403T>C (p.Met468Thr) c.755T>C (p.Met252Thr) c.542T>C (p.Met181Thr) c.2816T>C (p.Met939Thr) c.2951T>C (p.Met984Thr) c.2957T>C (p.Met986Thr) c.2873T>C (p.Met958Thr) c.2801T>C (p.Met934Thr) c.2735T>C (p.Met912Thr) c.2096T>C (p.Met699Thr) c.2714T>C (p.Met905Thr) | |
| 9 | g.137813110T>G | CA375793577 | EHMT1 | c.2972T>G (p.Met991Arg) c.2858T>G (p.Met953Arg) c.2879T>G (p.Met960Arg) c.3012T>G (n.3012T>G) c.866T>G (p.Met289Arg) c.1829T>G (p.Met610Arg) c.659T>G n.498T>G c.2963T>G (p.Met988Arg) c.2954T>G (p.Met985Arg) c.2981T>G (p.Met994Arg) c.2978T>G (p.Met993Arg) c.2960T>G (p.Met987Arg) c.2903T>G (p.Met968Arg) c.2837T>G (p.Met946Arg) c.1403T>G (p.Met468Arg) c.755T>G (p.Met252Arg) c.542T>G (p.Met181Arg) c.2816T>G (p.Met939Arg) c.2951T>G (p.Met984Arg) c.2957T>G (p.Met986Arg) c.2873T>G (p.Met958Arg) c.2801T>G (p.Met934Arg) c.2735T>G (p.Met912Arg) c.2096T>G (p.Met699Arg) c.2714T>G (p.Met905Arg) | |
| 9 | g.137813111G>A | CA5375118 | EHMT1 | c.2973G>A (p.Met991Ile) c.2859G>A (p.Met953Ile) c.2880G>A (p.Met960Ile) c.3013G>A (n.3013G>A) c.867G>A (p.Met289Ile) c.1830G>A (p.Met610Ile) c.660G>A n.499G>A c.2964G>A (p.Met988Ile) c.2955G>A (p.Met985Ile) c.2982G>A (p.Met994Ile) c.2979G>A (p.Met993Ile) c.2961G>A (p.Met987Ile) c.2904G>A (p.Met968Ile) c.2838G>A (p.Met946Ile) c.1404G>A (p.Met468Ile) c.756G>A (p.Met252Ile) c.543G>A (p.Met181Ile) c.2817G>A (p.Met939Ile) c.2952G>A (p.Met984Ile) c.2958G>A (p.Met986Ile) c.2874G>A (p.Met958Ile) c.2802G>A (p.Met934Ile) c.2736G>A (p.Met912Ile) c.2097G>A (p.Met699Ile) c.2715G>A (p.Met905Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813111G>C | CA375793581 | EHMT1 | c.2973G>C (p.Met991Ile) c.2859G>C (p.Met953Ile) c.2880G>C (p.Met960Ile) c.3013G>C (n.3013G>C) c.867G>C (p.Met289Ile) c.1830G>C (p.Met610Ile) c.660G>C n.499G>C c.2964G>C (p.Met988Ile) c.2955G>C (p.Met985Ile) c.2982G>C (p.Met994Ile) c.2979G>C (p.Met993Ile) c.2961G>C (p.Met987Ile) c.2904G>C (p.Met968Ile) c.2838G>C (p.Met946Ile) c.1404G>C (p.Met468Ile) c.756G>C (p.Met252Ile) c.543G>C (p.Met181Ile) c.2817G>C (p.Met939Ile) c.2952G>C (p.Met984Ile) c.2958G>C (p.Met986Ile) c.2874G>C (p.Met958Ile) c.2802G>C (p.Met934Ile) c.2736G>C (p.Met912Ile) c.2097G>C (p.Met699Ile) c.2715G>C (p.Met905Ile) | |
| 9 | g.137813111G= | CA1884685710 | EHMT1 | c.2973G= (p.Met991=) c.2859G= (p.Met953=) c.2880G= (p.Met960=) c.3013G= (n.3013G=) c.867G= (p.Met289=) c.1830G= (p.Met610=) c.660G= n.499G= c.2964G= (p.Met988=) c.2955G= (p.Met985=) c.2982G= (p.Met994=) c.2979G= (p.Met993=) c.2961G= (p.Met987=) c.2904G= (p.Met968=) c.2838G= (p.Met946=) c.1404G= (p.Met468=) c.756G= (p.Met252=) c.543G= (p.Met181=) c.2817G= (p.Met939=) c.2952G= (p.Met984=) c.2958G= (p.Met986=) c.2874G= (p.Met958=) c.2802G= (p.Met934=) c.2736G= (p.Met912=) c.2097G= (p.Met699=) c.2715G= (p.Met905=) | |
| 9 | g.137813111G>T | CA375793579 | EHMT1 | c.2973G>T (p.Met991Ile) c.2859G>T (p.Met953Ile) c.2880G>T (p.Met960Ile) c.3013G>T (n.3013G>T) c.867G>T (p.Met289Ile) c.1830G>T (p.Met610Ile) c.660G>T n.499G>T c.2964G>T (p.Met988Ile) c.2955G>T (p.Met985Ile) c.2982G>T (p.Met994Ile) c.2979G>T (p.Met993Ile) c.2961G>T (p.Met987Ile) c.2904G>T (p.Met968Ile) c.2838G>T (p.Met946Ile) c.1404G>T (p.Met468Ile) c.756G>T (p.Met252Ile) c.543G>T (p.Met181Ile) c.2817G>T (p.Met939Ile) c.2952G>T (p.Met984Ile) c.2958G>T (p.Met986Ile) c.2874G>T (p.Met958Ile) c.2802G>T (p.Met934Ile) c.2736G>T (p.Met912Ile) c.2097G>T (p.Met699Ile) c.2715G>T (p.Met905Ile) | |
| 9 | g.137813112A= | CA1884685711 | EHMT1 | c.2974A= (p.Ser992=) c.2860A= (p.Ser954=) c.2881A= (p.Ser961=) c.3014A= (n.3014A=) c.868A= (p.Ser290=) c.1831A= (p.Ser611=) c.661A= n.500A= c.2965A= (p.Ser989=) c.2956A= (p.Ser986=) c.2983A= (p.Ser995=) c.2980A= (p.Ser994=) c.2962A= (p.Ser988=) c.2905A= (p.Ser969=) c.2839A= (p.Ser947=) c.1405A= (p.Ser469=) c.757A= (p.Ser253=) c.544A= (p.Ser182=) c.2818A= (p.Ser940=) c.2953A= (p.Ser985=) c.2959A= (p.Ser987=) c.2875A= (p.Ser959=) c.2803A= (p.Ser935=) c.2737A= (p.Ser913=) c.2098A= (p.Ser700=) c.2716A= (p.Ser906=) | |
| 9 | g.137813112A>C | CA375793584 | EHMT1 | c.2974A>C (p.Ser992Arg) c.2860A>C (p.Ser954Arg) c.2881A>C (p.Ser961Arg) c.3014A>C (n.3014A>C) c.868A>C (p.Ser290Arg) c.1831A>C (p.Ser611Arg) c.661A>C n.500A>C c.2965A>C (p.Ser989Arg) c.2956A>C (p.Ser986Arg) c.2983A>C (p.Ser995Arg) c.2980A>C (p.Ser994Arg) c.2962A>C (p.Ser988Arg) c.2905A>C (p.Ser969Arg) c.2839A>C (p.Ser947Arg) c.1405A>C (p.Ser469Arg) c.757A>C (p.Ser253Arg) c.544A>C (p.Ser182Arg) c.2818A>C (p.Ser940Arg) c.2953A>C (p.Ser985Arg) c.2959A>C (p.Ser987Arg) c.2875A>C (p.Ser959Arg) c.2803A>C (p.Ser935Arg) c.2737A>C (p.Ser913Arg) c.2098A>C (p.Ser700Arg) c.2716A>C (p.Ser906Arg) | |
| 9 | g.137813112A>G | CA375793585 | EHMT1 | c.2974A>G (p.Ser992Gly) c.2860A>G (p.Ser954Gly) c.2881A>G (p.Ser961Gly) c.3014A>G (n.3014A>G) c.868A>G (p.Ser290Gly) c.1831A>G (p.Ser611Gly) c.661A>G n.500A>G c.2965A>G (p.Ser989Gly) c.2956A>G (p.Ser986Gly) c.2983A>G (p.Ser995Gly) c.2980A>G (p.Ser994Gly) c.2962A>G (p.Ser988Gly) c.2905A>G (p.Ser969Gly) c.2839A>G (p.Ser947Gly) c.1405A>G (p.Ser469Gly) c.757A>G (p.Ser253Gly) c.544A>G (p.Ser182Gly) c.2818A>G (p.Ser940Gly) c.2953A>G (p.Ser985Gly) c.2959A>G (p.Ser987Gly) c.2875A>G (p.Ser959Gly) c.2803A>G (p.Ser935Gly) c.2737A>G (p.Ser913Gly) c.2098A>G (p.Ser700Gly) c.2716A>G (p.Ser906Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813112A>T | CA375793587 | EHMT1 | c.2974A>T (p.Ser992Cys) c.2860A>T (p.Ser954Cys) c.2881A>T (p.Ser961Cys) c.3014A>T (n.3014A>T) c.868A>T (p.Ser290Cys) c.1831A>T (p.Ser611Cys) c.661A>T n.500A>T c.2965A>T (p.Ser989Cys) c.2956A>T (p.Ser986Cys) c.2983A>T (p.Ser995Cys) c.2980A>T (p.Ser994Cys) c.2962A>T (p.Ser988Cys) c.2905A>T (p.Ser969Cys) c.2839A>T (p.Ser947Cys) c.1405A>T (p.Ser469Cys) c.757A>T (p.Ser253Cys) c.544A>T (p.Ser182Cys) c.2818A>T (p.Ser940Cys) c.2953A>T (p.Ser985Cys) c.2959A>T (p.Ser987Cys) c.2875A>T (p.Ser959Cys) c.2803A>T (p.Ser935Cys) c.2737A>T (p.Ser913Cys) c.2098A>T (p.Ser700Cys) c.2716A>T (p.Ser906Cys) | |
| 9 | g.137813113G>A | CA375793589 | EHMT1 | c.2975G>A (p.Ser992Asn) c.2861G>A (p.Ser954Asn) c.2882G>A (p.Ser961Asn) c.3015G>A (n.3015G>A) c.869G>A (p.Ser290Asn) c.1832G>A (p.Ser611Asn) c.662G>A n.501G>A c.2966G>A (p.Ser989Asn) c.2957G>A (p.Ser986Asn) c.2984G>A (p.Ser995Asn) c.2981G>A (p.Ser994Asn) c.2963G>A (p.Ser988Asn) c.2906G>A (p.Ser969Asn) c.2840G>A (p.Ser947Asn) c.1406G>A (p.Ser469Asn) c.758G>A (p.Ser253Asn) c.545G>A (p.Ser182Asn) c.2819G>A (p.Ser940Asn) c.2954G>A (p.Ser985Asn) c.2960G>A (p.Ser987Asn) c.2876G>A (p.Ser959Asn) c.2804G>A (p.Ser935Asn) c.2738G>A (p.Ser913Asn) c.2099G>A (p.Ser700Asn) c.2717G>A (p.Ser906Asn) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813113G>C | CA375793591 | EHMT1 | c.2975G>C (p.Ser992Thr) c.2861G>C (p.Ser954Thr) c.2882G>C (p.Ser961Thr) c.3015G>C (n.3015G>C) c.869G>C (p.Ser290Thr) c.1832G>C (p.Ser611Thr) c.662G>C n.501G>C c.2966G>C (p.Ser989Thr) c.2957G>C (p.Ser986Thr) c.2984G>C (p.Ser995Thr) c.2981G>C (p.Ser994Thr) c.2963G>C (p.Ser988Thr) c.2906G>C (p.Ser969Thr) c.2840G>C (p.Ser947Thr) c.1406G>C (p.Ser469Thr) c.758G>C (p.Ser253Thr) c.545G>C (p.Ser182Thr) c.2819G>C (p.Ser940Thr) c.2954G>C (p.Ser985Thr) c.2960G>C (p.Ser987Thr) c.2876G>C (p.Ser959Thr) c.2804G>C (p.Ser935Thr) c.2738G>C (p.Ser913Thr) c.2099G>C (p.Ser700Thr) c.2717G>C (p.Ser906Thr) | gnomAD v4 |
| 9 | g.137813113G= | CA1884685713 | EHMT1 | c.2975G= (p.Ser992=) c.2861G= (p.Ser954=) c.2882G= (p.Ser961=) c.3015G= (n.3015G=) c.869G= (p.Ser290=) c.1832G= (p.Ser611=) c.662G= n.501G= c.2966G= (p.Ser989=) c.2957G= (p.Ser986=) c.2984G= (p.Ser995=) c.2981G= (p.Ser994=) c.2963G= (p.Ser988=) c.2906G= (p.Ser969=) c.2840G= (p.Ser947=) c.1406G= (p.Ser469=) c.758G= (p.Ser253=) c.545G= (p.Ser182=) c.2819G= (p.Ser940=) c.2954G= (p.Ser985=) c.2960G= (p.Ser987=) c.2876G= (p.Ser959=) c.2804G= (p.Ser935=) c.2738G= (p.Ser913=) c.2099G= (p.Ser700=) c.2717G= (p.Ser906=) | |
| 9 | g.137813113G>T | CA375793593 | EHMT1 | c.2975G>T (p.Ser992Ile) c.2861G>T (p.Ser954Ile) c.2882G>T (p.Ser961Ile) c.3015G>T (n.3015G>T) c.869G>T (p.Ser290Ile) c.1832G>T (p.Ser611Ile) c.662G>T n.501G>T c.2966G>T (p.Ser989Ile) c.2957G>T (p.Ser986Ile) c.2984G>T (p.Ser995Ile) c.2981G>T (p.Ser994Ile) c.2963G>T (p.Ser988Ile) c.2906G>T (p.Ser969Ile) c.2840G>T (p.Ser947Ile) c.1406G>T (p.Ser469Ile) c.758G>T (p.Ser253Ile) c.545G>T (p.Ser182Ile) c.2819G>T (p.Ser940Ile) c.2954G>T (p.Ser985Ile) c.2960G>T (p.Ser987Ile) c.2876G>T (p.Ser959Ile) c.2804G>T (p.Ser935Ile) c.2738G>T (p.Ser913Ile) c.2099G>T (p.Ser700Ile) c.2717G>T (p.Ser906Ile) | |
| 9 | g.137813113_137813114delinsGC | CA1884685712 | EHMT1 | c.2975_2976delinsGC (p.Ser992=) c.2861_2862delinsGC (p.Ser954=) c.2882_2883delinsGC (p.Ser961=) c.3015_3016delinsGC (n.3015_3016delinsGC) c.869_870delinsGC (p.Ser290=) c.1832_1833delinsGC (p.Ser611=) c.662_663delinsGC n.501_502delinsGC c.2966_2967delinsGC (p.Ser989=) c.2957_2958delinsGC (p.Ser986=) c.2984_2985delinsGC (p.Ser995=) c.2981_2982delinsGC (p.Ser994=) c.2963_2964delinsGC (p.Ser988=) c.2906_2907delinsGC (p.Ser969=) c.2840_2841delinsGC (p.Ser947=) c.1406_1407delinsGC (p.Ser469=) c.758_759delinsGC (p.Ser253=) c.545_546delinsGC (p.Ser182=) c.2819_2820delinsGC (p.Ser940=) c.2954_2955delinsGC (p.Ser985=) c.2960_2961delinsGC (p.Ser987=) c.2876_2877delinsGC (p.Ser959=) c.2804_2805delinsGC (p.Ser935=) c.2738_2739delinsGC (p.Ser913=) c.2099_2100delinsGC (p.Ser700=) c.2717_2718delinsGC (p.Ser906=) | |
| 9 | g.137813114del | CA915945837 | EHMT1 | c.2976del (p.Ser992ArgfsTer18) c.2862del (p.Ser954ArgfsTer18) c.2883del (p.Ser961ArgfsTer18) c.3016del (n.3016del) c.870del (p.Ser290ArgfsTer18) c.1833del (p.Ser611ArgfsTer18) c.663del n.502del c.2967del (p.Ser989ArgfsTer18) c.2958del (p.Ser986ArgfsTer18) c.2985del (p.Ser995ArgfsTer18) c.2982del (p.Ser994ArgfsTer18) c.2964del (p.Ser988ArgfsTer18) c.2907del (p.Ser969ArgfsTer18) c.2841del (p.Ser947ArgfsTer18) c.1407del (p.Ser469ArgfsTer18) c.759del (p.Ser253ArgfsTer18) c.546del (p.Ser182ArgfsTer18) c.2820del (p.Ser940ArgfsTer18) c.2955del (p.Ser985ArgfsTer18) c.2961del (p.Ser987ArgfsTer18) c.2877del (p.Ser959ArgfsTer18) c.2805del (p.Ser935ArgfsTer18) c.2739del (p.Ser913ArgfsTer18) c.2100del (p.Ser700ArgfsTer18) c.2718del (p.Ser906ArgfsTer18) | ClinVar dbSNP |
| 9 | g.137813114C>A | CA375793594 | EHMT1 | c.2976C>A (p.Ser992Arg) c.2862C>A (p.Ser954Arg) c.2883C>A (p.Ser961Arg) c.3016C>A (n.3016C>A) c.870C>A (p.Ser290Arg) c.1833C>A (p.Ser611Arg) c.663C>A n.502C>A c.2967C>A (p.Ser989Arg) c.2958C>A (p.Ser986Arg) c.2985C>A (p.Ser995Arg) c.2982C>A (p.Ser994Arg) c.2964C>A (p.Ser988Arg) c.2907C>A (p.Ser969Arg) c.2841C>A (p.Ser947Arg) c.1407C>A (p.Ser469Arg) c.759C>A (p.Ser253Arg) c.546C>A (p.Ser182Arg) c.2820C>A (p.Ser940Arg) c.2955C>A (p.Ser985Arg) c.2961C>A (p.Ser987Arg) c.2877C>A (p.Ser959Arg) c.2805C>A (p.Ser935Arg) c.2739C>A (p.Ser913Arg) c.2100C>A (p.Ser700Arg) c.2718C>A (p.Ser906Arg) | |
| 9 | g.137813114C>G | CA375793595 | EHMT1 | c.2976C>G (p.Ser992Arg) c.2862C>G (p.Ser954Arg) c.2883C>G (p.Ser961Arg) c.3016C>G (n.3016C>G) c.870C>G (p.Ser290Arg) c.1833C>G (p.Ser611Arg) c.663C>G n.502C>G c.2967C>G (p.Ser989Arg) c.2958C>G (p.Ser986Arg) c.2985C>G (p.Ser995Arg) c.2982C>G (p.Ser994Arg) c.2964C>G (p.Ser988Arg) c.2907C>G (p.Ser969Arg) c.2841C>G (p.Ser947Arg) c.1407C>G (p.Ser469Arg) c.759C>G (p.Ser253Arg) c.546C>G (p.Ser182Arg) c.2820C>G (p.Ser940Arg) c.2955C>G (p.Ser985Arg) c.2961C>G (p.Ser987Arg) c.2877C>G (p.Ser959Arg) c.2805C>G (p.Ser935Arg) c.2739C>G (p.Ser913Arg) c.2100C>G (p.Ser700Arg) c.2718C>G (p.Ser906Arg) | |
| 9 | g.137813114C>T | CA468161077 | EHMT1 | c.2976C>T (p.Ser992=) c.2862C>T (p.Ser954=) c.2883C>T (p.Ser961=) c.3016C>T (n.3016C>T) c.870C>T (p.Ser290=) c.1833C>T (p.Ser611=) c.663C>T n.502C>T c.2967C>T (p.Ser989=) c.2958C>T (p.Ser986=) c.2985C>T (p.Ser995=) c.2982C>T (p.Ser994=) c.2964C>T (p.Ser988=) c.2907C>T (p.Ser969=) c.2841C>T (p.Ser947=) c.1407C>T (p.Ser469=) c.759C>T (p.Ser253=) c.546C>T (p.Ser182=) c.2820C>T (p.Ser940=) c.2955C>T (p.Ser985=) c.2961C>T (p.Ser987=) c.2877C>T (p.Ser959=) c.2805C>T (p.Ser935=) c.2739C>T (p.Ser913=) c.2100C>T (p.Ser700=) c.2718C>T (p.Ser906=) | |
| 9 | g.137813115A>C | CA375793597 | EHMT1 | c.2977A>C (p.Lys993Gln) c.2863A>C (p.Lys955Gln) c.2884A>C (p.Lys962Gln) c.3017A>C (n.3017A>C) c.871A>C (p.Lys291Gln) c.1834A>C (p.Lys612Gln) c.664A>C n.503A>C c.2968A>C (p.Lys990Gln) c.2959A>C (p.Lys987Gln) c.2986A>C (p.Lys996Gln) c.2983A>C (p.Lys995Gln) c.2965A>C (p.Lys989Gln) c.2908A>C (p.Lys970Gln) c.2842A>C (p.Lys948Gln) c.1408A>C (p.Lys470Gln) c.760A>C (p.Lys254Gln) c.547A>C (p.Lys183Gln) c.2821A>C (p.Lys941Gln) c.2956A>C (p.Lys986Gln) c.2962A>C (p.Lys988Gln) c.2878A>C (p.Lys960Gln) c.2806A>C (p.Lys936Gln) c.2740A>C (p.Lys914Gln) c.2101A>C (p.Lys701Gln) c.2719A>C (p.Lys907Gln) | |
| 9 | g.137813115A>G | CA375793599 | EHMT1 | c.2977A>G (p.Lys993Glu) c.2863A>G (p.Lys955Glu) c.2884A>G (p.Lys962Glu) c.3017A>G (n.3017A>G) c.871A>G (p.Lys291Glu) c.1834A>G (p.Lys612Glu) c.664A>G n.503A>G c.2968A>G (p.Lys990Glu) c.2959A>G (p.Lys987Glu) c.2986A>G (p.Lys996Glu) c.2983A>G (p.Lys995Glu) c.2965A>G (p.Lys989Glu) c.2908A>G (p.Lys970Glu) c.2842A>G (p.Lys948Glu) c.1408A>G (p.Lys470Glu) c.760A>G (p.Lys254Glu) c.547A>G (p.Lys183Glu) c.2821A>G (p.Lys941Glu) c.2956A>G (p.Lys986Glu) c.2962A>G (p.Lys988Glu) c.2878A>G (p.Lys960Glu) c.2806A>G (p.Lys936Glu) c.2740A>G (p.Lys914Glu) c.2101A>G (p.Lys701Glu) c.2719A>G (p.Lys907Glu) | |
| 9 | g.137813115A>T | CA375793601 | EHMT1 | c.2977A>T (p.Lys993Ter) c.2863A>T (p.Lys955Ter) c.2884A>T (p.Lys962Ter) c.3017A>T (n.3017A>T) c.871A>T (p.Lys291Ter) c.1834A>T (p.Lys612Ter) c.664A>T n.503A>T c.2968A>T (p.Lys990Ter) c.2959A>T (p.Lys987Ter) c.2986A>T (p.Lys996Ter) c.2983A>T (p.Lys995Ter) c.2965A>T (p.Lys989Ter) c.2908A>T (p.Lys970Ter) c.2842A>T (p.Lys948Ter) c.1408A>T (p.Lys470Ter) c.760A>T (p.Lys254Ter) c.547A>T (p.Lys183Ter) c.2821A>T (p.Lys941Ter) c.2956A>T (p.Lys986Ter) c.2962A>T (p.Lys988Ter) c.2878A>T (p.Lys960Ter) c.2806A>T (p.Lys936Ter) c.2740A>T (p.Lys914Ter) c.2101A>T (p.Lys701Ter) c.2719A>T (p.Lys907Ter) | |
| 9 | g.137813116A>C | CA375793603 | EHMT1 | c.2978A>C (p.Lys993Thr) c.2864A>C (p.Lys955Thr) c.2885A>C (p.Lys962Thr) c.3018A>C (n.3018A>C) c.872A>C (p.Lys291Thr) c.1835A>C (p.Lys612Thr) c.665A>C n.504A>C c.2969A>C (p.Lys990Thr) c.2960A>C (p.Lys987Thr) c.2987A>C (p.Lys996Thr) c.2984A>C (p.Lys995Thr) c.2966A>C (p.Lys989Thr) c.2909A>C (p.Lys970Thr) c.2843A>C (p.Lys948Thr) c.1409A>C (p.Lys470Thr) c.761A>C (p.Lys254Thr) c.548A>C (p.Lys183Thr) c.2822A>C (p.Lys941Thr) c.2957A>C (p.Lys986Thr) c.2963A>C (p.Lys988Thr) c.2879A>C (p.Lys960Thr) c.2807A>C (p.Lys936Thr) c.2741A>C (p.Lys914Thr) c.2102A>C (p.Lys701Thr) c.2720A>C (p.Lys907Thr) | gnomAD v4 |
| 9 | g.137813116A>G | CA375793604 | EHMT1 | c.2978A>G (p.Lys993Arg) c.2864A>G (p.Lys955Arg) c.2885A>G (p.Lys962Arg) c.3018A>G (n.3018A>G) c.872A>G (p.Lys291Arg) c.1835A>G (p.Lys612Arg) c.665A>G n.504A>G c.2969A>G (p.Lys990Arg) c.2960A>G (p.Lys987Arg) c.2987A>G (p.Lys996Arg) c.2984A>G (p.Lys995Arg) c.2966A>G (p.Lys989Arg) c.2909A>G (p.Lys970Arg) c.2843A>G (p.Lys948Arg) c.1409A>G (p.Lys470Arg) c.761A>G (p.Lys254Arg) c.548A>G (p.Lys183Arg) c.2822A>G (p.Lys941Arg) c.2957A>G (p.Lys986Arg) c.2963A>G (p.Lys988Arg) c.2879A>G (p.Lys960Arg) c.2807A>G (p.Lys936Arg) c.2741A>G (p.Lys914Arg) c.2102A>G (p.Lys701Arg) c.2720A>G (p.Lys907Arg) | |
| 9 | g.137813116A>T | CA375793606 | EHMT1 | c.2978A>T (p.Lys993Met) c.2864A>T (p.Lys955Met) c.2885A>T (p.Lys962Met) c.3018A>T (n.3018A>T) c.872A>T (p.Lys291Met) c.1835A>T (p.Lys612Met) c.665A>T n.504A>T c.2969A>T (p.Lys990Met) c.2960A>T (p.Lys987Met) c.2987A>T (p.Lys996Met) c.2984A>T (p.Lys995Met) c.2966A>T (p.Lys989Met) c.2909A>T (p.Lys970Met) c.2843A>T (p.Lys948Met) c.1409A>T (p.Lys470Met) c.761A>T (p.Lys254Met) c.548A>T (p.Lys183Met) c.2822A>T (p.Lys941Met) c.2957A>T (p.Lys986Met) c.2963A>T (p.Lys988Met) c.2879A>T (p.Lys960Met) c.2807A>T (p.Lys936Met) c.2741A>T (p.Lys914Met) c.2102A>T (p.Lys701Met) c.2720A>T (p.Lys907Met) | |
| 9 | g.137813117G>A | CA468161078 | EHMT1 | c.2979G>A (p.Lys993=) c.2865G>A (p.Lys955=) c.2886G>A (p.Lys962=) c.3019G>A (n.3019G>A) c.873G>A (p.Lys291=) c.1836G>A (p.Lys612=) c.666G>A n.505G>A c.2970G>A (p.Lys990=) c.2961G>A (p.Lys987=) c.2988G>A (p.Lys996=) c.2985G>A (p.Lys995=) c.2967G>A (p.Lys989=) c.2910G>A (p.Lys970=) c.2844G>A (p.Lys948=) c.1410G>A (p.Lys470=) c.762G>A (p.Lys254=) c.549G>A (p.Lys183=) c.2823G>A (p.Lys941=) c.2958G>A (p.Lys986=) c.2964G>A (p.Lys988=) c.2880G>A (p.Lys960=) c.2808G>A (p.Lys936=) c.2742G>A (p.Lys914=) c.2103G>A (p.Lys701=) c.2721G>A (p.Lys907=) | |
| 9 | g.137813117G>C | CA375793608 | EHMT1 | c.2979G>C (p.Lys993Asn) c.2865G>C (p.Lys955Asn) c.2886G>C (p.Lys962Asn) c.3019G>C (n.3019G>C) c.873G>C (p.Lys291Asn) c.1836G>C (p.Lys612Asn) c.666G>C n.505G>C c.2970G>C (p.Lys990Asn) c.2961G>C (p.Lys987Asn) c.2988G>C (p.Lys996Asn) c.2985G>C (p.Lys995Asn) c.2967G>C (p.Lys989Asn) c.2910G>C (p.Lys970Asn) c.2844G>C (p.Lys948Asn) c.1410G>C (p.Lys470Asn) c.762G>C (p.Lys254Asn) c.549G>C (p.Lys183Asn) c.2823G>C (p.Lys941Asn) c.2958G>C (p.Lys986Asn) c.2964G>C (p.Lys988Asn) c.2880G>C (p.Lys960Asn) c.2808G>C (p.Lys936Asn) c.2742G>C (p.Lys914Asn) c.2103G>C (p.Lys701Asn) c.2721G>C (p.Lys907Asn) | |
| 9 | g.137813117G>T | CA375793610 | EHMT1 | c.2979G>T (p.Lys993Asn) c.2865G>T (p.Lys955Asn) c.2886G>T (p.Lys962Asn) c.3019G>T (n.3019G>T) c.873G>T (p.Lys291Asn) c.1836G>T (p.Lys612Asn) c.666G>T n.505G>T c.2970G>T (p.Lys990Asn) c.2961G>T (p.Lys987Asn) c.2988G>T (p.Lys996Asn) c.2985G>T (p.Lys995Asn) c.2967G>T (p.Lys989Asn) c.2910G>T (p.Lys970Asn) c.2844G>T (p.Lys948Asn) c.1410G>T (p.Lys470Asn) c.762G>T (p.Lys254Asn) c.549G>T (p.Lys183Asn) c.2823G>T (p.Lys941Asn) c.2958G>T (p.Lys986Asn) c.2964G>T (p.Lys988Asn) c.2880G>T (p.Lys960Asn) c.2808G>T (p.Lys936Asn) c.2742G>T (p.Lys914Asn) c.2103G>T (p.Lys701Asn) c.2721G>T (p.Lys907Asn) | |
| 9 | g.137813118G>A | CA375793612 | EHMT1 | c.2980G>A (p.Ala994Thr) c.2866G>A (p.Ala956Thr) c.2887G>A (p.Ala963Thr) c.3020G>A (n.3020G>A) c.874G>A (p.Ala292Thr) c.1837G>A (p.Ala613Thr) c.667G>A n.506G>A c.2971G>A (p.Ala991Thr) c.2962G>A (p.Ala988Thr) c.2989G>A (p.Ala997Thr) c.2986G>A (p.Ala996Thr) c.2968G>A (p.Ala990Thr) c.2911G>A (p.Ala971Thr) c.2845G>A (p.Ala949Thr) c.1411G>A (p.Ala471Thr) c.763G>A (p.Ala255Thr) c.550G>A (p.Ala184Thr) c.2824G>A (p.Ala942Thr) c.2959G>A (p.Ala987Thr) c.2965G>A (p.Ala989Thr) c.2881G>A (p.Ala961Thr) c.2809G>A (p.Ala937Thr) c.2743G>A (p.Ala915Thr) c.2104G>A (p.Ala702Thr) c.2722G>A (p.Ala908Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137813118G>C | CA375793614 | EHMT1 | c.2980G>C (p.Ala994Pro) c.2866G>C (p.Ala956Pro) c.2887G>C (p.Ala963Pro) c.3020G>C (n.3020G>C) c.874G>C (p.Ala292Pro) c.1837G>C (p.Ala613Pro) c.667G>C n.506G>C c.2971G>C (p.Ala991Pro) c.2962G>C (p.Ala988Pro) c.2989G>C (p.Ala997Pro) c.2986G>C (p.Ala996Pro) c.2968G>C (p.Ala990Pro) c.2911G>C (p.Ala971Pro) c.2845G>C (p.Ala949Pro) c.1411G>C (p.Ala471Pro) c.763G>C (p.Ala255Pro) c.550G>C (p.Ala184Pro) c.2824G>C (p.Ala942Pro) c.2959G>C (p.Ala987Pro) c.2965G>C (p.Ala989Pro) c.2881G>C (p.Ala961Pro) c.2809G>C (p.Ala937Pro) c.2743G>C (p.Ala915Pro) c.2104G>C (p.Ala702Pro) c.2722G>C (p.Ala908Pro) | dbSNP gnomAD v4 |
| 9 | g.137813118G= | CA1884685714 | EHMT1 | c.2980G= (p.Ala994=) c.2866G= (p.Ala956=) c.2887G= (p.Ala963=) c.3020G= (n.3020G=) c.874G= (p.Ala292=) c.1837G= (p.Ala613=) c.667G= n.506G= c.2971G= (p.Ala991=) c.2962G= (p.Ala988=) c.2989G= (p.Ala997=) c.2986G= (p.Ala996=) c.2968G= (p.Ala990=) c.2911G= (p.Ala971=) c.2845G= (p.Ala949=) c.1411G= (p.Ala471=) c.763G= (p.Ala255=) c.550G= (p.Ala184=) c.2824G= (p.Ala942=) c.2959G= (p.Ala987=) c.2965G= (p.Ala989=) c.2881G= (p.Ala961=) c.2809G= (p.Ala937=) c.2743G= (p.Ala915=) c.2104G= (p.Ala702=) c.2722G= (p.Ala908=) | |
| 9 | g.137813118G>T | CA5375119 | EHMT1 | c.2980G>T (p.Ala994Ser) c.2866G>T (p.Ala956Ser) c.2887G>T (p.Ala963Ser) c.3020G>T (n.3020G>T) c.874G>T (p.Ala292Ser) c.1837G>T (p.Ala613Ser) c.667G>T n.506G>T c.2971G>T (p.Ala991Ser) c.2962G>T (p.Ala988Ser) c.2989G>T (p.Ala997Ser) c.2986G>T (p.Ala996Ser) c.2968G>T (p.Ala990Ser) c.2911G>T (p.Ala971Ser) c.2845G>T (p.Ala949Ser) c.1411G>T (p.Ala471Ser) c.763G>T (p.Ala255Ser) c.550G>T (p.Ala184Ser) c.2824G>T (p.Ala942Ser) c.2959G>T (p.Ala987Ser) c.2965G>T (p.Ala989Ser) c.2881G>T (p.Ala961Ser) c.2809G>T (p.Ala937Ser) c.2743G>T (p.Ala915Ser) c.2104G>T (p.Ala702Ser) c.2722G>T (p.Ala908Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813119C>A | CA375793618 | EHMT1 | c.2981C>A (p.Ala994Asp) c.2867C>A (p.Ala956Asp) c.2888C>A (p.Ala963Asp) c.3021C>A (n.3021C>A) c.875C>A (p.Ala292Asp) c.1838C>A (p.Ala613Asp) c.668C>A n.507C>A c.2972C>A (p.Ala991Asp) c.2963C>A (p.Ala988Asp) c.2990C>A (p.Ala997Asp) c.2987C>A (p.Ala996Asp) c.2969C>A (p.Ala990Asp) c.2912C>A (p.Ala971Asp) c.2846C>A (p.Ala949Asp) c.1412C>A (p.Ala471Asp) c.764C>A (p.Ala255Asp) c.551C>A (p.Ala184Asp) c.2825C>A (p.Ala942Asp) c.2960C>A (p.Ala987Asp) c.2966C>A (p.Ala989Asp) c.2882C>A (p.Ala961Asp) c.2810C>A (p.Ala937Asp) c.2744C>A (p.Ala915Asp) c.2105C>A (p.Ala702Asp) c.2723C>A (p.Ala908Asp) | |
| 9 | g.137813119C>G | CA375793620 | EHMT1 | c.2981C>G (p.Ala994Gly) c.2867C>G (p.Ala956Gly) c.2888C>G (p.Ala963Gly) c.3021C>G (n.3021C>G) c.875C>G (p.Ala292Gly) c.1838C>G (p.Ala613Gly) c.668C>G n.507C>G c.2972C>G (p.Ala991Gly) c.2963C>G (p.Ala988Gly) c.2990C>G (p.Ala997Gly) c.2987C>G (p.Ala996Gly) c.2969C>G (p.Ala990Gly) c.2912C>G (p.Ala971Gly) c.2846C>G (p.Ala949Gly) c.1412C>G (p.Ala471Gly) c.764C>G (p.Ala255Gly) c.551C>G (p.Ala184Gly) c.2825C>G (p.Ala942Gly) c.2960C>G (p.Ala987Gly) c.2966C>G (p.Ala989Gly) c.2882C>G (p.Ala961Gly) c.2810C>G (p.Ala937Gly) c.2744C>G (p.Ala915Gly) c.2105C>G (p.Ala702Gly) c.2723C>G (p.Ala908Gly) | gnomAD v4 |
| 9 | g.137813119C>T | CA375793622 | EHMT1 | c.2981C>T (p.Ala994Val) c.2867C>T (p.Ala956Val) c.2888C>T (p.Ala963Val) c.3021C>T (n.3021C>T) c.875C>T (p.Ala292Val) c.1838C>T (p.Ala613Val) c.668C>T n.507C>T c.2972C>T (p.Ala991Val) c.2963C>T (p.Ala988Val) c.2990C>T (p.Ala997Val) c.2987C>T (p.Ala996Val) c.2969C>T (p.Ala990Val) c.2912C>T (p.Ala971Val) c.2846C>T (p.Ala949Val) c.1412C>T (p.Ala471Val) c.764C>T (p.Ala255Val) c.551C>T (p.Ala184Val) c.2825C>T (p.Ala942Val) c.2960C>T (p.Ala987Val) c.2966C>T (p.Ala989Val) c.2882C>T (p.Ala961Val) c.2810C>T (p.Ala937Val) c.2744C>T (p.Ala915Val) c.2105C>T (p.Ala702Val) c.2723C>T (p.Ala908Val) | |
| 9 | g.137813120T>A | CA468161079 | EHMT1 | c.2982T>A (p.Ala994=) c.2868T>A (p.Ala956=) c.2889T>A (p.Ala963=) c.3022T>A (n.3022T>A) c.876T>A (p.Ala292=) c.1839T>A (p.Ala613=) c.669T>A n.508T>A c.2973T>A (p.Ala991=) c.2964T>A (p.Ala988=) c.2991T>A (p.Ala997=) c.2988T>A (p.Ala996=) c.2970T>A (p.Ala990=) c.2913T>A (p.Ala971=) c.2847T>A (p.Ala949=) c.1413T>A (p.Ala471=) c.765T>A (p.Ala255=) c.552T>A (p.Ala184=) c.2826T>A (p.Ala942=) c.2961T>A (p.Ala987=) c.2967T>A (p.Ala989=) c.2883T>A (p.Ala961=) c.2811T>A (p.Ala937=) c.2745T>A (p.Ala915=) c.2106T>A (p.Ala702=) c.2724T>A (p.Ala908=) | |
| 9 | g.137813120T>C | CA468161080 | EHMT1 | c.2982T>C (p.Ala994=) c.2868T>C (p.Ala956=) c.2889T>C (p.Ala963=) c.3022T>C (n.3022T>C) c.876T>C (p.Ala292=) c.1839T>C (p.Ala613=) c.669T>C n.508T>C c.2973T>C (p.Ala991=) c.2964T>C (p.Ala988=) c.2991T>C (p.Ala997=) c.2988T>C (p.Ala996=) c.2970T>C (p.Ala990=) c.2913T>C (p.Ala971=) c.2847T>C (p.Ala949=) c.1413T>C (p.Ala471=) c.765T>C (p.Ala255=) c.552T>C (p.Ala184=) c.2826T>C (p.Ala942=) c.2961T>C (p.Ala987=) c.2967T>C (p.Ala989=) c.2883T>C (p.Ala961=) c.2811T>C (p.Ala937=) c.2745T>C (p.Ala915=) c.2106T>C (p.Ala702=) c.2724T>C (p.Ala908=) | |
| 9 | g.137813120T>G | CA468161081 | EHMT1 | c.2982T>G (p.Ala994=) c.2868T>G (p.Ala956=) c.2889T>G (p.Ala963=) c.3022T>G (n.3022T>G) c.876T>G (p.Ala292=) c.1839T>G (p.Ala613=) c.669T>G n.508T>G c.2973T>G (p.Ala991=) c.2964T>G (p.Ala988=) c.2991T>G (p.Ala997=) c.2988T>G (p.Ala996=) c.2970T>G (p.Ala990=) c.2913T>G (p.Ala971=) c.2847T>G (p.Ala949=) c.1413T>G (p.Ala471=) c.765T>G (p.Ala255=) c.552T>G (p.Ala184=) c.2826T>G (p.Ala942=) c.2961T>G (p.Ala987=) c.2967T>G (p.Ala989=) c.2883T>G (p.Ala961=) c.2811T>G (p.Ala937=) c.2745T>G (p.Ala915=) c.2106T>G (p.Ala702=) c.2724T>G (p.Ala908=) | |
| 9 | g.137813121C>A | CA375793624 | EHMT1 | c.2983C>A (p.Leu995Met) c.2869C>A (p.Leu957Met) c.2890C>A (p.Leu964Met) c.3023C>A (n.3023C>A) c.877C>A (p.Leu293Met) c.1840C>A (p.Leu614Met) c.670C>A n.509C>A c.2974C>A (p.Leu992Met) c.2965C>A (p.Leu989Met) c.2992C>A (p.Leu998Met) c.2989C>A (p.Leu997Met) c.2971C>A (p.Leu991Met) c.2914C>A (p.Leu972Met) c.2848C>A (p.Leu950Met) c.1414C>A (p.Leu472Met) c.766C>A (p.Leu256Met) c.553C>A (p.Leu185Met) c.2827C>A (p.Leu943Met) c.2962C>A (p.Leu988Met) c.2968C>A (p.Leu990Met) c.2884C>A (p.Leu962Met) c.2812C>A (p.Leu938Met) c.2746C>A (p.Leu916Met) c.2107C>A (p.Leu703Met) c.2725C>A (p.Leu909Met) | |
| 9 | g.137813121C>G | CA375793625 | EHMT1 | c.2983C>G (p.Leu995Val) c.2869C>G (p.Leu957Val) c.2890C>G (p.Leu964Val) c.3023C>G (n.3023C>G) c.877C>G (p.Leu293Val) c.1840C>G (p.Leu614Val) c.670C>G n.509C>G c.2974C>G (p.Leu992Val) c.2965C>G (p.Leu989Val) c.2992C>G (p.Leu998Val) c.2989C>G (p.Leu997Val) c.2971C>G (p.Leu991Val) c.2914C>G (p.Leu972Val) c.2848C>G (p.Leu950Val) c.1414C>G (p.Leu472Val) c.766C>G (p.Leu256Val) c.553C>G (p.Leu185Val) c.2827C>G (p.Leu943Val) c.2962C>G (p.Leu988Val) c.2968C>G (p.Leu990Val) c.2884C>G (p.Leu962Val) c.2812C>G (p.Leu938Val) c.2746C>G (p.Leu916Val) c.2107C>G (p.Leu703Val) c.2725C>G (p.Leu909Val) | |
| 9 | g.137813121C>T | CA468161082 | EHMT1 | c.2983C>T (p.Leu995=) c.2869C>T (p.Leu957=) c.2890C>T (p.Leu964=) c.3023C>T (n.3023C>T) c.877C>T (p.Leu293=) c.1840C>T (p.Leu614=) c.670C>T n.509C>T c.2974C>T (p.Leu992=) c.2965C>T (p.Leu989=) c.2992C>T (p.Leu998=) c.2989C>T (p.Leu997=) c.2971C>T (p.Leu991=) c.2914C>T (p.Leu972=) c.2848C>T (p.Leu950=) c.1414C>T (p.Leu472=) c.766C>T (p.Leu256=) c.553C>T (p.Leu185=) c.2827C>T (p.Leu943=) c.2962C>T (p.Leu988=) c.2968C>T (p.Leu990=) c.2884C>T (p.Leu962=) c.2812C>T (p.Leu938=) c.2746C>T (p.Leu916=) c.2107C>T (p.Leu703=) c.2725C>T (p.Leu909=) | |
| 9 | g.137813122T>A | CA375793628 | EHMT1 | c.2984T>A (p.Leu995Gln) c.2870T>A (p.Leu957Gln) c.2891T>A (p.Leu964Gln) c.3024T>A (n.3024T>A) c.878T>A (p.Leu293Gln) c.1841T>A (p.Leu614Gln) c.671T>A n.510T>A c.2975T>A (p.Leu992Gln) c.2966T>A (p.Leu989Gln) c.2993T>A (p.Leu998Gln) c.2990T>A (p.Leu997Gln) c.2972T>A (p.Leu991Gln) c.2915T>A (p.Leu972Gln) c.2849T>A (p.Leu950Gln) c.1415T>A (p.Leu472Gln) c.767T>A (p.Leu256Gln) c.554T>A (p.Leu185Gln) c.2828T>A (p.Leu943Gln) c.2963T>A (p.Leu988Gln) c.2969T>A (p.Leu990Gln) c.2885T>A (p.Leu962Gln) c.2813T>A (p.Leu938Gln) c.2747T>A (p.Leu916Gln) c.2108T>A (p.Leu703Gln) c.2726T>A (p.Leu909Gln) | |
| 9 | g.137813122T>C | CA375793630 | EHMT1 | c.2984T>C (p.Leu995Pro) c.2870T>C (p.Leu957Pro) c.2891T>C (p.Leu964Pro) c.3024T>C (n.3024T>C) c.878T>C (p.Leu293Pro) c.1841T>C (p.Leu614Pro) c.671T>C n.510T>C c.2975T>C (p.Leu992Pro) c.2966T>C (p.Leu989Pro) c.2993T>C (p.Leu998Pro) c.2990T>C (p.Leu997Pro) c.2972T>C (p.Leu991Pro) c.2915T>C (p.Leu972Pro) c.2849T>C (p.Leu950Pro) c.1415T>C (p.Leu472Pro) c.767T>C (p.Leu256Pro) c.554T>C (p.Leu185Pro) c.2828T>C (p.Leu943Pro) c.2963T>C (p.Leu988Pro) c.2969T>C (p.Leu990Pro) c.2885T>C (p.Leu962Pro) c.2813T>C (p.Leu938Pro) c.2747T>C (p.Leu916Pro) c.2108T>C (p.Leu703Pro) c.2726T>C (p.Leu909Pro) | |
| 9 | g.137813122T>G | CA375793632 | EHMT1 | c.2984T>G (p.Leu995Arg) c.2870T>G (p.Leu957Arg) c.2891T>G (p.Leu964Arg) c.3024T>G (n.3024T>G) c.878T>G (p.Leu293Arg) c.1841T>G (p.Leu614Arg) c.671T>G n.510T>G c.2975T>G (p.Leu992Arg) c.2966T>G (p.Leu989Arg) c.2993T>G (p.Leu998Arg) c.2990T>G (p.Leu997Arg) c.2972T>G (p.Leu991Arg) c.2915T>G (p.Leu972Arg) c.2849T>G (p.Leu950Arg) c.1415T>G (p.Leu472Arg) c.767T>G (p.Leu256Arg) c.554T>G (p.Leu185Arg) c.2828T>G (p.Leu943Arg) c.2963T>G (p.Leu988Arg) c.2969T>G (p.Leu990Arg) c.2885T>G (p.Leu962Arg) c.2813T>G (p.Leu938Arg) c.2747T>G (p.Leu916Arg) c.2108T>G (p.Leu703Arg) c.2726T>G (p.Leu909Arg) | |
| 9 | g.137813123G>A | CA468161083 | EHMT1 | c.2985G>A (p.Leu995=) c.2871G>A (p.Leu957=) c.2892G>A (p.Leu964=) c.3025G>A (n.3025G>A) c.879G>A (p.Leu293=) c.1842G>A (p.Leu614=) c.672G>A n.511G>A c.2976G>A (p.Leu992=) c.2967G>A (p.Leu989=) c.2994G>A (p.Leu998=) c.2991G>A (p.Leu997=) c.2973G>A (p.Leu991=) c.2916G>A (p.Leu972=) c.2850G>A (p.Leu950=) c.1416G>A (p.Leu472=) c.768G>A (p.Leu256=) c.555G>A (p.Leu185=) c.2829G>A (p.Leu943=) c.2964G>A (p.Leu988=) c.2970G>A (p.Leu990=) c.2886G>A (p.Leu962=) c.2814G>A (p.Leu938=) c.2748G>A (p.Leu916=) c.2109G>A (p.Leu703=) c.2727G>A (p.Leu909=) | |
| 9 | g.137813123G>C | CA468161085 | EHMT1 | c.2985G>C (p.Leu995=) c.2871G>C (p.Leu957=) c.2892G>C (p.Leu964=) c.3025G>C (n.3025G>C) c.879G>C (p.Leu293=) c.1842G>C (p.Leu614=) c.672G>C n.511G>C c.2976G>C (p.Leu992=) c.2967G>C (p.Leu989=) c.2994G>C (p.Leu998=) c.2991G>C (p.Leu997=) c.2973G>C (p.Leu991=) c.2916G>C (p.Leu972=) c.2850G>C (p.Leu950=) c.1416G>C (p.Leu472=) c.768G>C (p.Leu256=) c.555G>C (p.Leu185=) c.2829G>C (p.Leu943=) c.2964G>C (p.Leu988=) c.2970G>C (p.Leu990=) c.2886G>C (p.Leu962=) c.2814G>C (p.Leu938=) c.2748G>C (p.Leu916=) c.2109G>C (p.Leu703=) c.2727G>C (p.Leu909=) | |
| 9 | g.137813123G>T | CA468161084 | EHMT1 | c.2985G>T (p.Leu995=) c.2871G>T (p.Leu957=) c.2892G>T (p.Leu964=) c.3025G>T (n.3025G>T) c.879G>T (p.Leu293=) c.1842G>T (p.Leu614=) c.672G>T n.511G>T c.2976G>T (p.Leu992=) c.2967G>T (p.Leu989=) c.2994G>T (p.Leu998=) c.2991G>T (p.Leu997=) c.2973G>T (p.Leu991=) c.2916G>T (p.Leu972=) c.2850G>T (p.Leu950=) c.1416G>T (p.Leu472=) c.768G>T (p.Leu256=) c.555G>T (p.Leu185=) c.2829G>T (p.Leu943=) c.2964G>T (p.Leu988=) c.2970G>T (p.Leu990=) c.2886G>T (p.Leu962=) c.2814G>T (p.Leu938=) c.2748G>T (p.Leu916=) c.2109G>T (p.Leu703=) c.2727G>T (p.Leu909=) | |
| 9 | g.137813124C>A | CA375793634 | EHMT1 | c.2986C>A (p.Gln996Lys) c.2872C>A (p.Gln958Lys) c.2893C>A (p.Gln965Lys) c.3026C>A (n.3026C>A) c.880C>A (p.Gln294Lys) c.1843C>A (p.Gln615Lys) c.673C>A n.512C>A c.2977C>A (p.Gln993Lys) c.2968C>A (p.Gln990Lys) c.2995C>A (p.Gln999Lys) c.2992C>A (p.Gln998Lys) c.2974C>A (p.Gln992Lys) c.2917C>A (p.Gln973Lys) c.2851C>A (p.Gln951Lys) c.1417C>A (p.Gln473Lys) c.769C>A (p.Gln257Lys) c.556C>A (p.Gln186Lys) c.2830C>A (p.Gln944Lys) c.2965C>A (p.Gln989Lys) c.2971C>A (p.Gln991Lys) c.2887C>A (p.Gln963Lys) c.2815C>A (p.Gln939Lys) c.2749C>A (p.Gln917Lys) c.2110C>A (p.Gln704Lys) c.2728C>A (p.Gln910Lys) | |
| 9 | g.137813124C>G | CA375793638 | EHMT1 | c.2986C>G (p.Gln996Glu) c.2872C>G (p.Gln958Glu) c.2893C>G (p.Gln965Glu) c.3026C>G (n.3026C>G) c.880C>G (p.Gln294Glu) c.1843C>G (p.Gln615Glu) c.673C>G n.512C>G c.2977C>G (p.Gln993Glu) c.2968C>G (p.Gln990Glu) c.2995C>G (p.Gln999Glu) c.2992C>G (p.Gln998Glu) c.2974C>G (p.Gln992Glu) c.2917C>G (p.Gln973Glu) c.2851C>G (p.Gln951Glu) c.1417C>G (p.Gln473Glu) c.769C>G (p.Gln257Glu) c.556C>G (p.Gln186Glu) c.2830C>G (p.Gln944Glu) c.2965C>G (p.Gln989Glu) c.2971C>G (p.Gln991Glu) c.2887C>G (p.Gln963Glu) c.2815C>G (p.Gln939Glu) c.2749C>G (p.Gln917Glu) c.2110C>G (p.Gln704Glu) c.2728C>G (p.Gln910Glu) | |
| 9 | g.137813124C>T | CA375793636 | EHMT1 | c.2986C>T (p.Gln996Ter) c.2872C>T (p.Gln958Ter) c.2893C>T (p.Gln965Ter) c.3026C>T (n.3026C>T) c.880C>T (p.Gln294Ter) c.1843C>T (p.Gln615Ter) c.673C>T n.512C>T c.2977C>T (p.Gln993Ter) c.2968C>T (p.Gln990Ter) c.2995C>T (p.Gln999Ter) c.2992C>T (p.Gln998Ter) c.2974C>T (p.Gln992Ter) c.2917C>T (p.Gln973Ter) c.2851C>T (p.Gln951Ter) c.1417C>T (p.Gln473Ter) c.769C>T (p.Gln257Ter) c.556C>T (p.Gln186Ter) c.2830C>T (p.Gln944Ter) c.2965C>T (p.Gln989Ter) c.2971C>T (p.Gln991Ter) c.2887C>T (p.Gln963Ter) c.2815C>T (p.Gln939Ter) c.2749C>T (p.Gln917Ter) c.2110C>T (p.Gln704Ter) c.2728C>T (p.Gln910Ter) | |
| 9 | g.137813125A>C | CA375793640 | EHMT1 | c.2987A>C (p.Gln996Pro) c.2873A>C (p.Gln958Pro) c.2894A>C (p.Gln965Pro) c.3027A>C (n.3027A>C) c.881A>C (p.Gln294Pro) c.1844A>C (p.Gln615Pro) c.674A>C n.513A>C c.2978A>C (p.Gln993Pro) c.2969A>C (p.Gln990Pro) c.2996A>C (p.Gln999Pro) c.2993A>C (p.Gln998Pro) c.2975A>C (p.Gln992Pro) c.2918A>C (p.Gln973Pro) c.2852A>C (p.Gln951Pro) c.1418A>C (p.Gln473Pro) c.770A>C (p.Gln257Pro) c.557A>C (p.Gln186Pro) c.2831A>C (p.Gln944Pro) c.2966A>C (p.Gln989Pro) c.2972A>C (p.Gln991Pro) c.2888A>C (p.Gln963Pro) c.2816A>C (p.Gln939Pro) c.2750A>C (p.Gln917Pro) c.2111A>C (p.Gln704Pro) c.2729A>C (p.Gln910Pro) | |
| 9 | g.137813125A>G | CA375793645 | EHMT1 | c.2987A>G (p.Gln996Arg) c.2873A>G (p.Gln958Arg) c.2894A>G (p.Gln965Arg) c.3027A>G (n.3027A>G) c.881A>G (p.Gln294Arg) c.1844A>G (p.Gln615Arg) c.674A>G n.513A>G c.2978A>G (p.Gln993Arg) c.2969A>G (p.Gln990Arg) c.2996A>G (p.Gln999Arg) c.2993A>G (p.Gln998Arg) c.2975A>G (p.Gln992Arg) c.2918A>G (p.Gln973Arg) c.2852A>G (p.Gln951Arg) c.1418A>G (p.Gln473Arg) c.770A>G (p.Gln257Arg) c.557A>G (p.Gln186Arg) c.2831A>G (p.Gln944Arg) c.2966A>G (p.Gln989Arg) c.2972A>G (p.Gln991Arg) c.2888A>G (p.Gln963Arg) c.2816A>G (p.Gln939Arg) c.2750A>G (p.Gln917Arg) c.2111A>G (p.Gln704Arg) c.2729A>G (p.Gln910Arg) | gnomAD v4 |
| 9 | g.137813125A>T | CA375793642 | EHMT1 | c.2987A>T (p.Gln996Leu) c.2873A>T (p.Gln958Leu) c.2894A>T (p.Gln965Leu) c.3027A>T (n.3027A>T) c.881A>T (p.Gln294Leu) c.1844A>T (p.Gln615Leu) c.674A>T n.513A>T c.2978A>T (p.Gln993Leu) c.2969A>T (p.Gln990Leu) c.2996A>T (p.Gln999Leu) c.2993A>T (p.Gln998Leu) c.2975A>T (p.Gln992Leu) c.2918A>T (p.Gln973Leu) c.2852A>T (p.Gln951Leu) c.1418A>T (p.Gln473Leu) c.770A>T (p.Gln257Leu) c.557A>T (p.Gln186Leu) c.2831A>T (p.Gln944Leu) c.2966A>T (p.Gln989Leu) c.2972A>T (p.Gln991Leu) c.2888A>T (p.Gln963Leu) c.2816A>T (p.Gln939Leu) c.2750A>T (p.Gln917Leu) c.2111A>T (p.Gln704Leu) c.2729A>T (p.Gln910Leu) | |
| 9 | g.137813126G>A | CA468161086 | EHMT1 | c.2988G>A (p.Gln996=) c.2874G>A (p.Gln958=) c.2895G>A (p.Gln965=) c.3028G>A (n.3028G>A) c.882G>A (p.Gln294=) c.1845G>A (p.Gln615=) c.675G>A n.514G>A c.2979G>A (p.Gln993=) c.2970G>A (p.Gln990=) c.2997G>A (p.Gln999=) c.2994G>A (p.Gln998=) c.2976G>A (p.Gln992=) c.2919G>A (p.Gln973=) c.2853G>A (p.Gln951=) c.1419G>A (p.Gln473=) c.771G>A (p.Gln257=) c.558G>A (p.Gln186=) c.2832G>A (p.Gln944=) c.2967G>A (p.Gln989=) c.2973G>A (p.Gln991=) c.2889G>A (p.Gln963=) c.2817G>A (p.Gln939=) c.2751G>A (p.Gln917=) c.2112G>A (p.Gln704=) c.2730G>A (p.Gln910=) | |
| 9 | g.137813126G>C | CA375793648 | EHMT1 | c.2988G>C (p.Gln996His) c.2874G>C (p.Gln958His) c.2895G>C (p.Gln965His) c.3028G>C (n.3028G>C) c.882G>C (p.Gln294His) c.1845G>C (p.Gln615His) c.675G>C n.514G>C c.2979G>C (p.Gln993His) c.2970G>C (p.Gln990His) c.2997G>C (p.Gln999His) c.2994G>C (p.Gln998His) c.2976G>C (p.Gln992His) c.2919G>C (p.Gln973His) c.2853G>C (p.Gln951His) c.1419G>C (p.Gln473His) c.771G>C (p.Gln257His) c.558G>C (p.Gln186His) c.2832G>C (p.Gln944His) c.2967G>C (p.Gln989His) c.2973G>C (p.Gln991His) c.2889G>C (p.Gln963His) c.2817G>C (p.Gln939His) c.2751G>C (p.Gln917His) c.2112G>C (p.Gln704His) c.2730G>C (p.Gln910His) | |
| 9 | g.137813126G>T | CA375793650 | EHMT1 | c.2988G>T (p.Gln996His) c.2874G>T (p.Gln958His) c.2895G>T (p.Gln965His) c.3028G>T (n.3028G>T) c.882G>T (p.Gln294His) c.1845G>T (p.Gln615His) c.675G>T n.514G>T c.2979G>T (p.Gln993His) c.2970G>T (p.Gln990His) c.2997G>T (p.Gln999His) c.2994G>T (p.Gln998His) c.2976G>T (p.Gln992His) c.2919G>T (p.Gln973His) c.2853G>T (p.Gln951His) c.1419G>T (p.Gln473His) c.771G>T (p.Gln257His) c.558G>T (p.Gln186His) c.2832G>T (p.Gln944His) c.2967G>T (p.Gln989His) c.2973G>T (p.Gln991His) c.2889G>T (p.Gln963His) c.2817G>T (p.Gln939His) c.2751G>T (p.Gln917His) c.2112G>T (p.Gln704His) c.2730G>T (p.Gln910His) | |
| 9 | g.137813127G>A | CA375793651 | EHMT1 | c.2989G>A (p.Asp997Asn) c.2875G>A (p.Asp959Asn) c.2896G>A (p.Asp966Asn) c.3029G>A (n.3029G>A) c.883G>A (p.Asp295Asn) c.1846G>A (p.Asp616Asn) c.676G>A n.515G>A c.2980G>A (p.Asp994Asn) c.2971G>A (p.Asp991Asn) c.2998G>A (p.Asp1000Asn) c.2995G>A (p.Asp999Asn) c.2977G>A (p.Asp993Asn) c.2920G>A (p.Asp974Asn) c.2854G>A (p.Asp952Asn) c.1420G>A (p.Asp474Asn) c.772G>A (p.Asp258Asn) c.559G>A (p.Asp187Asn) c.2833G>A (p.Asp945Asn) c.2968G>A (p.Asp990Asn) c.2974G>A (p.Asp992Asn) c.2890G>A (p.Asp964Asn) c.2818G>A (p.Asp940Asn) c.2752G>A (p.Asp918Asn) c.2113G>A (p.Asp705Asn) c.2731G>A (p.Asp911Asn) | gnomAD v4 |
| 9 | g.137813127G>C | CA375793652 | EHMT1 | c.2989G>C (p.Asp997His) c.2875G>C (p.Asp959His) c.2896G>C (p.Asp966His) c.3029G>C (n.3029G>C) c.883G>C (p.Asp295His) c.1846G>C (p.Asp616His) c.676G>C n.515G>C c.2980G>C (p.Asp994His) c.2971G>C (p.Asp991His) c.2998G>C (p.Asp1000His) c.2995G>C (p.Asp999His) c.2977G>C (p.Asp993His) c.2920G>C (p.Asp974His) c.2854G>C (p.Asp952His) c.1420G>C (p.Asp474His) c.772G>C (p.Asp258His) c.559G>C (p.Asp187His) c.2833G>C (p.Asp945His) c.2968G>C (p.Asp990His) c.2974G>C (p.Asp992His) c.2890G>C (p.Asp964His) c.2818G>C (p.Asp940His) c.2752G>C (p.Asp918His) c.2113G>C (p.Asp705His) c.2731G>C (p.Asp911His) | |
| 9 | g.137813127G= | CA1884685715 | EHMT1 | c.2989G= (p.Asp997=) c.2875G= (p.Asp959=) c.2896G= (p.Asp966=) c.3029G= (n.3029G=) c.883G= (p.Asp295=) c.1846G= (p.Asp616=) c.676G= n.515G= c.2980G= (p.Asp994=) c.2971G= (p.Asp991=) c.2998G= (p.Asp1000=) c.2995G= (p.Asp999=) c.2977G= (p.Asp993=) c.2920G= (p.Asp974=) c.2854G= (p.Asp952=) c.1420G= (p.Asp474=) c.772G= (p.Asp258=) c.559G= (p.Asp187=) c.2833G= (p.Asp945=) c.2968G= (p.Asp990=) c.2974G= (p.Asp992=) c.2890G= (p.Asp964=) c.2818G= (p.Asp940=) c.2752G= (p.Asp918=) c.2113G= (p.Asp705=) c.2731G= (p.Asp911=) | |
| 9 | g.137813127G>T | CA5375120 | EHMT1 | c.2989G>T (p.Asp997Tyr) c.2875G>T (p.Asp959Tyr) c.2896G>T (p.Asp966Tyr) c.3029G>T (n.3029G>T) c.883G>T (p.Asp295Tyr) c.1846G>T (p.Asp616Tyr) c.676G>T n.515G>T c.2980G>T (p.Asp994Tyr) c.2971G>T (p.Asp991Tyr) c.2998G>T (p.Asp1000Tyr) c.2995G>T (p.Asp999Tyr) c.2977G>T (p.Asp993Tyr) c.2920G>T (p.Asp974Tyr) c.2854G>T (p.Asp952Tyr) c.1420G>T (p.Asp474Tyr) c.772G>T (p.Asp258Tyr) c.559G>T (p.Asp187Tyr) c.2833G>T (p.Asp945Tyr) c.2968G>T (p.Asp990Tyr) c.2974G>T (p.Asp992Tyr) c.2890G>T (p.Asp964Tyr) c.2818G>T (p.Asp940Tyr) c.2752G>T (p.Asp918Tyr) c.2113G>T (p.Asp705Tyr) c.2731G>T (p.Asp911Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813128A>C | CA375793653 | EHMT1 | c.2990A>C (p.Asp997Ala) c.2876A>C (p.Asp959Ala) c.2897A>C (p.Asp966Ala) c.3030A>C (n.3030A>C) c.884A>C (p.Asp295Ala) c.1847A>C (p.Asp616Ala) c.677A>C n.516A>C c.2981A>C (p.Asp994Ala) c.2972A>C (p.Asp991Ala) c.2999A>C (p.Asp1000Ala) c.2996A>C (p.Asp999Ala) c.2978A>C (p.Asp993Ala) c.2921A>C (p.Asp974Ala) c.2855A>C (p.Asp952Ala) c.1421A>C (p.Asp474Ala) c.773A>C (p.Asp258Ala) c.560A>C (p.Asp187Ala) c.2834A>C (p.Asp945Ala) c.2969A>C (p.Asp990Ala) c.2975A>C (p.Asp992Ala) c.2891A>C (p.Asp964Ala) c.2819A>C (p.Asp940Ala) c.2753A>C (p.Asp918Ala) c.2114A>C (p.Asp705Ala) c.2732A>C (p.Asp911Ala) | |
| 9 | g.137813128A>G | CA375793654 | EHMT1 | c.2990A>G (p.Asp997Gly) c.2876A>G (p.Asp959Gly) c.2897A>G (p.Asp966Gly) c.3030A>G (n.3030A>G) c.884A>G (p.Asp295Gly) c.1847A>G (p.Asp616Gly) c.677A>G n.516A>G c.2981A>G (p.Asp994Gly) c.2972A>G (p.Asp991Gly) c.2999A>G (p.Asp1000Gly) c.2996A>G (p.Asp999Gly) c.2978A>G (p.Asp993Gly) c.2921A>G (p.Asp974Gly) c.2855A>G (p.Asp952Gly) c.1421A>G (p.Asp474Gly) c.773A>G (p.Asp258Gly) c.560A>G (p.Asp187Gly) c.2834A>G (p.Asp945Gly) c.2969A>G (p.Asp990Gly) c.2975A>G (p.Asp992Gly) c.2891A>G (p.Asp964Gly) c.2819A>G (p.Asp940Gly) c.2753A>G (p.Asp918Gly) c.2114A>G (p.Asp705Gly) c.2732A>G (p.Asp911Gly) | |
| 9 | g.137813128A>T | CA375793655 | EHMT1 | c.2990A>T (p.Asp997Val) c.2876A>T (p.Asp959Val) c.2897A>T (p.Asp966Val) c.3030A>T (n.3030A>T) c.884A>T (p.Asp295Val) c.1847A>T (p.Asp616Val) c.677A>T n.516A>T c.2981A>T (p.Asp994Val) c.2972A>T (p.Asp991Val) c.2999A>T (p.Asp1000Val) c.2996A>T (p.Asp999Val) c.2978A>T (p.Asp993Val) c.2921A>T (p.Asp974Val) c.2855A>T (p.Asp952Val) c.1421A>T (p.Asp474Val) c.773A>T (p.Asp258Val) c.560A>T (p.Asp187Val) c.2834A>T (p.Asp945Val) c.2969A>T (p.Asp990Val) c.2975A>T (p.Asp992Val) c.2891A>T (p.Asp964Val) c.2819A>T (p.Asp940Val) c.2753A>T (p.Asp918Val) c.2114A>T (p.Asp705Val) c.2732A>T (p.Asp911Val) | |
| 9 | g.137813129C>A | CA375793656 | EHMT1 | c.2991C>A (p.Asp997Glu) c.2877C>A (p.Asp959Glu) c.2898C>A (p.Asp966Glu) c.3031C>A (n.3031C>A) c.885C>A (p.Asp295Glu) c.1848C>A (p.Asp616Glu) c.678C>A n.517C>A c.2982C>A (p.Asp994Glu) c.2973C>A (p.Asp991Glu) c.3000C>A (p.Asp1000Glu) c.2997C>A (p.Asp999Glu) c.2979C>A (p.Asp993Glu) c.2922C>A (p.Asp974Glu) c.2856C>A (p.Asp952Glu) c.1422C>A (p.Asp474Glu) c.774C>A (p.Asp258Glu) c.561C>A (p.Asp187Glu) c.2835C>A (p.Asp945Glu) c.2970C>A (p.Asp990Glu) c.2976C>A (p.Asp992Glu) c.2892C>A (p.Asp964Glu) c.2820C>A (p.Asp940Glu) c.2754C>A (p.Asp918Glu) c.2115C>A (p.Asp705Glu) c.2733C>A (p.Asp911Glu) | |
| 9 | g.137813129C>G | CA375793657 | EHMT1 | c.2991C>G (p.Asp997Glu) c.2877C>G (p.Asp959Glu) c.2898C>G (p.Asp966Glu) c.3031C>G (n.3031C>G) c.885C>G (p.Asp295Glu) c.1848C>G (p.Asp616Glu) c.678C>G n.517C>G c.2982C>G (p.Asp994Glu) c.2973C>G (p.Asp991Glu) c.3000C>G (p.Asp1000Glu) c.2997C>G (p.Asp999Glu) c.2979C>G (p.Asp993Glu) c.2922C>G (p.Asp974Glu) c.2856C>G (p.Asp952Glu) c.1422C>G (p.Asp474Glu) c.774C>G (p.Asp258Glu) c.561C>G (p.Asp187Glu) c.2835C>G (p.Asp945Glu) c.2970C>G (p.Asp990Glu) c.2976C>G (p.Asp992Glu) c.2892C>G (p.Asp964Glu) c.2820C>G (p.Asp940Glu) c.2754C>G (p.Asp918Glu) c.2115C>G (p.Asp705Glu) c.2733C>G (p.Asp911Glu) | |
| 9 | g.137813129C>T | CA468161087 | EHMT1 | c.2991C>T (p.Asp997=) c.2877C>T (p.Asp959=) c.2898C>T (p.Asp966=) c.3031C>T (n.3031C>T) c.885C>T (p.Asp295=) c.1848C>T (p.Asp616=) c.678C>T n.517C>T c.2982C>T (p.Asp994=) c.2973C>T (p.Asp991=) c.3000C>T (p.Asp1000=) c.2997C>T (p.Asp999=) c.2979C>T (p.Asp993=) c.2922C>T (p.Asp974=) c.2856C>T (p.Asp952=) c.1422C>T (p.Asp474=) c.774C>T (p.Asp258=) c.561C>T (p.Asp187=) c.2835C>T (p.Asp945=) c.2970C>T (p.Asp990=) c.2976C>T (p.Asp992=) c.2892C>T (p.Asp964=) c.2820C>T (p.Asp940=) c.2754C>T (p.Asp918=) c.2115C>T (p.Asp705=) c.2733C>T (p.Asp911=) | |
| 9 | g.137813130T>A | CA375793658 | EHMT1 | c.2992T>A (p.Ser998Thr) c.2878T>A (p.Ser960Thr) c.2899T>A (p.Ser967Thr) c.3032T>A (n.3032T>A) c.886T>A (p.Ser296Thr) c.1849T>A (p.Ser617Thr) c.679T>A n.518T>A c.2983T>A (p.Ser995Thr) c.2974T>A (p.Ser992Thr) c.3001T>A (p.Ser1001Thr) c.2998T>A (p.Ser1000Thr) c.2980T>A (p.Ser994Thr) c.2923T>A (p.Ser975Thr) c.2857T>A (p.Ser953Thr) c.1423T>A (p.Ser475Thr) c.775T>A (p.Ser259Thr) c.562T>A (p.Ser188Thr) c.2836T>A (p.Ser946Thr) c.2971T>A (p.Ser991Thr) c.2977T>A (p.Ser993Thr) c.2893T>A (p.Ser965Thr) c.2821T>A (p.Ser941Thr) c.2755T>A (p.Ser919Thr) c.2116T>A (p.Ser706Thr) c.2734T>A (p.Ser912Thr) | |
| 9 | g.137813130T>C | CA375793659 | EHMT1 | c.2992T>C (p.Ser998Pro) c.2878T>C (p.Ser960Pro) c.2899T>C (p.Ser967Pro) c.3032T>C (n.3032T>C) c.886T>C (p.Ser296Pro) c.1849T>C (p.Ser617Pro) c.679T>C n.518T>C c.2983T>C (p.Ser995Pro) c.2974T>C (p.Ser992Pro) c.3001T>C (p.Ser1001Pro) c.2998T>C (p.Ser1000Pro) c.2980T>C (p.Ser994Pro) c.2923T>C (p.Ser975Pro) c.2857T>C (p.Ser953Pro) c.1423T>C (p.Ser475Pro) c.775T>C (p.Ser259Pro) c.562T>C (p.Ser188Pro) c.2836T>C (p.Ser946Pro) c.2971T>C (p.Ser991Pro) c.2977T>C (p.Ser993Pro) c.2893T>C (p.Ser965Pro) c.2821T>C (p.Ser941Pro) c.2755T>C (p.Ser919Pro) c.2116T>C (p.Ser706Pro) c.2734T>C (p.Ser912Pro) | |
| 9 | g.137813130T>G | CA375793660 | EHMT1 | c.2992T>G (p.Ser998Ala) c.2878T>G (p.Ser960Ala) c.2899T>G (p.Ser967Ala) c.3032T>G (n.3032T>G) c.886T>G (p.Ser296Ala) c.1849T>G (p.Ser617Ala) c.679T>G n.518T>G c.2983T>G (p.Ser995Ala) c.2974T>G (p.Ser992Ala) c.3001T>G (p.Ser1001Ala) c.2998T>G (p.Ser1000Ala) c.2980T>G (p.Ser994Ala) c.2923T>G (p.Ser975Ala) c.2857T>G (p.Ser953Ala) c.1423T>G (p.Ser475Ala) c.775T>G (p.Ser259Ala) c.562T>G (p.Ser188Ala) c.2836T>G (p.Ser946Ala) c.2971T>G (p.Ser991Ala) c.2977T>G (p.Ser993Ala) c.2893T>G (p.Ser965Ala) c.2821T>G (p.Ser941Ala) c.2755T>G (p.Ser919Ala) c.2116T>G (p.Ser706Ala) c.2734T>G (p.Ser912Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813130T= | CA1884685716 | EHMT1 | c.2992T= (p.Ser998=) c.2878T= (p.Ser960=) c.2899T= (p.Ser967=) c.3032T= (n.3032T=) c.886T= (p.Ser296=) c.1849T= (p.Ser617=) c.679T= n.518T= c.2983T= (p.Ser995=) c.2974T= (p.Ser992=) c.3001T= (p.Ser1001=) c.2998T= (p.Ser1000=) c.2980T= (p.Ser994=) c.2923T= (p.Ser975=) c.2857T= (p.Ser953=) c.1423T= (p.Ser475=) c.775T= (p.Ser259=) c.562T= (p.Ser188=) c.2836T= (p.Ser946=) c.2971T= (p.Ser991=) c.2977T= (p.Ser993=) c.2893T= (p.Ser965=) c.2821T= (p.Ser941=) c.2755T= (p.Ser919=) c.2116T= (p.Ser706=) c.2734T= (p.Ser912=) | |
| 9 | g.137813131C>A | CA375793661 | EHMT1 | c.2993C>A (p.Ser998Ter) c.2879C>A (p.Ser960Ter) c.2900C>A (p.Ser967Ter) c.3033C>A (n.3033C>A) c.887C>A (p.Ser296Ter) c.1850C>A (p.Ser617Ter) c.680C>A n.519C>A c.2984C>A (p.Ser995Ter) c.2975C>A (p.Ser992Ter) c.3002C>A (p.Ser1001Ter) c.2999C>A (p.Ser1000Ter) c.2981C>A (p.Ser994Ter) c.2924C>A (p.Ser975Ter) c.2858C>A (p.Ser953Ter) c.1424C>A (p.Ser475Ter) c.776C>A (p.Ser259Ter) c.563C>A (p.Ser188Ter) c.2837C>A (p.Ser946Ter) c.2972C>A (p.Ser991Ter) c.2978C>A (p.Ser993Ter) c.2894C>A (p.Ser965Ter) c.2822C>A (p.Ser941Ter) c.2756C>A (p.Ser919Ter) c.2117C>A (p.Ser706Ter) c.2735C>A (p.Ser912Ter) | |
| 9 | g.137813131C= | CA1884685717 | EHMT1 | c.2993C= (p.Ser998=) c.2879C= (p.Ser960=) c.2900C= (p.Ser967=) c.3033C= (n.3033C=) c.887C= (p.Ser296=) c.1850C= (p.Ser617=) c.680C= n.519C= c.2984C= (p.Ser995=) c.2975C= (p.Ser992=) c.3002C= (p.Ser1001=) c.2999C= (p.Ser1000=) c.2981C= (p.Ser994=) c.2924C= (p.Ser975=) c.2858C= (p.Ser953=) c.1424C= (p.Ser475=) c.776C= (p.Ser259=) c.563C= (p.Ser188=) c.2837C= (p.Ser946=) c.2972C= (p.Ser991=) c.2978C= (p.Ser993=) c.2894C= (p.Ser965=) c.2822C= (p.Ser941=) c.2756C= (p.Ser919=) c.2117C= (p.Ser706=) c.2735C= (p.Ser912=) | |
| 9 | g.137813131C>G | CA201843295 | EHMT1 | c.2993C>G (p.Ser998Trp) c.2879C>G (p.Ser960Trp) c.2900C>G (p.Ser967Trp) c.3033C>G (n.3033C>G) c.887C>G (p.Ser296Trp) c.1850C>G (p.Ser617Trp) c.680C>G n.519C>G c.2984C>G (p.Ser995Trp) c.2975C>G (p.Ser992Trp) c.3002C>G (p.Ser1001Trp) c.2999C>G (p.Ser1000Trp) c.2981C>G (p.Ser994Trp) c.2924C>G (p.Ser975Trp) c.2858C>G (p.Ser953Trp) c.1424C>G (p.Ser475Trp) c.776C>G (p.Ser259Trp) c.563C>G (p.Ser188Trp) c.2837C>G (p.Ser946Trp) c.2972C>G (p.Ser991Trp) c.2978C>G (p.Ser993Trp) c.2894C>G (p.Ser965Trp) c.2822C>G (p.Ser941Trp) c.2756C>G (p.Ser919Trp) c.2117C>G (p.Ser706Trp) c.2735C>G (p.Ser912Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137813131C>T | CA5375121 | EHMT1 | c.2993C>T (p.Ser998Leu) c.2879C>T (p.Ser960Leu) c.2900C>T (p.Ser967Leu) c.3033C>T (n.3033C>T) c.887C>T (p.Ser296Leu) c.1850C>T (p.Ser617Leu) c.680C>T n.519C>T c.2984C>T (p.Ser995Leu) c.2975C>T (p.Ser992Leu) c.3002C>T (p.Ser1001Leu) c.2999C>T (p.Ser1000Leu) c.2981C>T (p.Ser994Leu) c.2924C>T (p.Ser975Leu) c.2858C>T (p.Ser953Leu) c.1424C>T (p.Ser475Leu) c.776C>T (p.Ser259Leu) c.563C>T (p.Ser188Leu) c.2837C>T (p.Ser946Leu) c.2972C>T (p.Ser991Leu) c.2978C>T (p.Ser993Leu) c.2894C>T (p.Ser965Leu) c.2822C>T (p.Ser941Leu) c.2756C>T (p.Ser919Leu) c.2117C>T (p.Ser706Leu) c.2735C>T (p.Ser912Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813132G>A | CA5375122 | EHMT1 | c.2994G>A (p.Ser998=) c.2880G>A (p.Ser960=) c.2901G>A (p.Ser967=) c.3034G>A (n.3034G>A) c.888G>A (p.Ser296=) c.1851G>A (p.Ser617=) c.681G>A n.520G>A c.2985G>A (p.Ser995=) c.2976G>A (p.Ser992=) c.3003G>A (p.Ser1001=) c.3000G>A (p.Ser1000=) c.2982G>A (p.Ser994=) c.2925G>A (p.Ser975=) c.2859G>A (p.Ser953=) c.1425G>A (p.Ser475=) c.777G>A (p.Ser259=) c.564G>A (p.Ser188=) c.2838G>A (p.Ser946=) c.2973G>A (p.Ser991=) c.2979G>A (p.Ser993=) c.2895G>A (p.Ser965=) c.2823G>A (p.Ser941=) c.2757G>A (p.Ser919=) c.2118G>A (p.Ser706=) c.2736G>A (p.Ser912=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813132G>C | CA468161088 | EHMT1 | c.2994G>C (p.Ser998=) c.2880G>C (p.Ser960=) c.2901G>C (p.Ser967=) c.3034G>C (n.3034G>C) c.888G>C (p.Ser296=) c.1851G>C (p.Ser617=) c.681G>C n.520G>C c.2985G>C (p.Ser995=) c.2976G>C (p.Ser992=) c.3003G>C (p.Ser1001=) c.3000G>C (p.Ser1000=) c.2982G>C (p.Ser994=) c.2925G>C (p.Ser975=) c.2859G>C (p.Ser953=) c.1425G>C (p.Ser475=) c.777G>C (p.Ser259=) c.564G>C (p.Ser188=) c.2838G>C (p.Ser946=) c.2973G>C (p.Ser991=) c.2979G>C (p.Ser993=) c.2895G>C (p.Ser965=) c.2823G>C (p.Ser941=) c.2757G>C (p.Ser919=) c.2118G>C (p.Ser706=) c.2736G>C (p.Ser912=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813132G= | CA1884685718 | EHMT1 | c.2994G= (p.Ser998=) c.2880G= (p.Ser960=) c.2901G= (p.Ser967=) c.3034G= (n.3034G=) c.888G= (p.Ser296=) c.1851G= (p.Ser617=) c.681G= n.520G= c.2985G= (p.Ser995=) c.2976G= (p.Ser992=) c.3003G= (p.Ser1001=) c.3000G= (p.Ser1000=) c.2982G= (p.Ser994=) c.2925G= (p.Ser975=) c.2859G= (p.Ser953=) c.1425G= (p.Ser475=) c.777G= (p.Ser259=) c.564G= (p.Ser188=) c.2838G= (p.Ser946=) c.2973G= (p.Ser991=) c.2979G= (p.Ser993=) c.2895G= (p.Ser965=) c.2823G= (p.Ser941=) c.2757G= (p.Ser919=) c.2118G= (p.Ser706=) c.2736G= (p.Ser912=) | |
| 9 | g.137813132G>T | CA468161089 | EHMT1 | c.2994G>T (p.Ser998=) c.2880G>T (p.Ser960=) c.2901G>T (p.Ser967=) c.3034G>T (n.3034G>T) c.888G>T (p.Ser296=) c.1851G>T (p.Ser617=) c.681G>T n.520G>T c.2985G>T (p.Ser995=) c.2976G>T (p.Ser992=) c.3003G>T (p.Ser1001=) c.3000G>T (p.Ser1000=) c.2982G>T (p.Ser994=) c.2925G>T (p.Ser975=) c.2859G>T (p.Ser953=) c.1425G>T (p.Ser475=) c.777G>T (p.Ser259=) c.564G>T (p.Ser188=) c.2838G>T (p.Ser946=) c.2973G>T (p.Ser991=) c.2979G>T (p.Ser993=) c.2895G>T (p.Ser965=) c.2823G>T (p.Ser941=) c.2757G>T (p.Ser919=) c.2118G>T (p.Ser706=) c.2736G>T (p.Ser912=) | dbSNP |
| 9 | g.137813133del | CA2580081008 | EHMT1 | c.2995del (p.Ala999ProfsTer11) c.2881del (p.Ala961ProfsTer11) c.2902del (p.Ala968ProfsTer11) c.3035del (n.3035del) c.889del (p.Ala297ProfsTer11) c.1852del (p.Ala618ProfsTer11) c.682del n.521del c.2986del (p.Ala996ProfsTer11) c.2977del (p.Ala993ProfsTer11) c.3004del (p.Ala1002ProfsTer11) c.3001del (p.Ala1001ProfsTer11) c.2983del (p.Ala995ProfsTer11) c.2926del (p.Ala976ProfsTer11) c.2860del (p.Ala954ProfsTer11) c.1426del (p.Ala476ProfsTer11) c.778del (p.Ala260ProfsTer11) c.565del (p.Ala189ProfsTer11) c.2839del (p.Ala947ProfsTer11) c.2974del (p.Ala992ProfsTer11) c.2980del (p.Ala994ProfsTer11) c.2896del (p.Ala966ProfsTer11) c.2824del (p.Ala942ProfsTer11) c.2758del (p.Ala920ProfsTer11) c.2119del (p.Ala707ProfsTer11) c.2737del (p.Ala913ProfsTer11) | ClinVar |
| 9 | g.137813133G>A | CA375793662 | EHMT1 | c.2995G>A (p.Ala999Thr) c.2881G>A (p.Ala961Thr) c.2902G>A (p.Ala968Thr) c.3035G>A (n.3035G>A) c.889G>A (p.Ala297Thr) c.1852G>A (p.Ala618Thr) c.682G>A n.521G>A c.2986G>A (p.Ala996Thr) c.2977G>A (p.Ala993Thr) c.3004G>A (p.Ala1002Thr) c.3001G>A (p.Ala1001Thr) c.2983G>A (p.Ala995Thr) c.2926G>A (p.Ala976Thr) c.2860G>A (p.Ala954Thr) c.1426G>A (p.Ala476Thr) c.778G>A (p.Ala260Thr) c.565G>A (p.Ala189Thr) c.2839G>A (p.Ala947Thr) c.2974G>A (p.Ala992Thr) c.2980G>A (p.Ala994Thr) c.2896G>A (p.Ala966Thr) c.2824G>A (p.Ala942Thr) c.2758G>A (p.Ala920Thr) c.2119G>A (p.Ala707Thr) c.2737G>A (p.Ala913Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137813133G>C | CA375793663 | EHMT1 | c.2995G>C (p.Ala999Pro) c.2881G>C (p.Ala961Pro) c.2902G>C (p.Ala968Pro) c.3035G>C (n.3035G>C) c.889G>C (p.Ala297Pro) c.1852G>C (p.Ala618Pro) c.682G>C n.521G>C c.2986G>C (p.Ala996Pro) c.2977G>C (p.Ala993Pro) c.3004G>C (p.Ala1002Pro) c.3001G>C (p.Ala1001Pro) c.2983G>C (p.Ala995Pro) c.2926G>C (p.Ala976Pro) c.2860G>C (p.Ala954Pro) c.1426G>C (p.Ala476Pro) c.778G>C (p.Ala260Pro) c.565G>C (p.Ala189Pro) c.2839G>C (p.Ala947Pro) c.2974G>C (p.Ala992Pro) c.2980G>C (p.Ala994Pro) c.2896G>C (p.Ala966Pro) c.2824G>C (p.Ala942Pro) c.2758G>C (p.Ala920Pro) c.2119G>C (p.Ala707Pro) c.2737G>C (p.Ala913Pro) | dbSNP |
| 9 | g.137813133G= | CA1884685719 | EHMT1 | c.2995G= (p.Ala999=) c.2881G= (p.Ala961=) c.2902G= (p.Ala968=) c.3035G= (n.3035G=) c.889G= (p.Ala297=) c.1852G= (p.Ala618=) c.682G= n.521G= c.2986G= (p.Ala996=) c.2977G= (p.Ala993=) c.3004G= (p.Ala1002=) c.3001G= (p.Ala1001=) c.2983G= (p.Ala995=) c.2926G= (p.Ala976=) c.2860G= (p.Ala954=) c.1426G= (p.Ala476=) c.778G= (p.Ala260=) c.565G= (p.Ala189=) c.2839G= (p.Ala947=) c.2974G= (p.Ala992=) c.2980G= (p.Ala994=) c.2896G= (p.Ala966=) c.2824G= (p.Ala942=) c.2758G= (p.Ala920=) c.2119G= (p.Ala707=) c.2737G= (p.Ala913=) | |
| 9 | g.137813133G>T | CA375793664 | EHMT1 | c.2995G>T (p.Ala999Ser) c.2881G>T (p.Ala961Ser) c.2902G>T (p.Ala968Ser) c.3035G>T (n.3035G>T) c.889G>T (p.Ala297Ser) c.1852G>T (p.Ala618Ser) c.682G>T n.521G>T c.2986G>T (p.Ala996Ser) c.2977G>T (p.Ala993Ser) c.3004G>T (p.Ala1002Ser) c.3001G>T (p.Ala1001Ser) c.2983G>T (p.Ala995Ser) c.2926G>T (p.Ala976Ser) c.2860G>T (p.Ala954Ser) c.1426G>T (p.Ala476Ser) c.778G>T (p.Ala260Ser) c.565G>T (p.Ala189Ser) c.2839G>T (p.Ala947Ser) c.2974G>T (p.Ala992Ser) c.2980G>T (p.Ala994Ser) c.2896G>T (p.Ala966Ser) c.2824G>T (p.Ala942Ser) c.2758G>T (p.Ala920Ser) c.2119G>T (p.Ala707Ser) c.2737G>T (p.Ala913Ser) | gnomAD v4 |
| 9 | g.137813133_137813134delinsGC | CA1884685720 | EHMT1 | c.2995_2996delinsGC (p.Ala999=) c.2881_2882delinsGC (p.Ala961=) c.2902_2903delinsGC (p.Ala968=) c.3035_3036delinsGC (n.3035_3036delinsGC) c.889_890delinsGC (p.Ala297=) c.1852_1853delinsGC (p.Ala618=) c.682_683delinsGC n.521_522delinsGC c.2986_2987delinsGC (p.Ala996=) c.2977_2978delinsGC (p.Ala993=) c.3004_3005delinsGC (p.Ala1002=) c.3001_3002delinsGC (p.Ala1001=) c.2983_2984delinsGC (p.Ala995=) c.2926_2927delinsGC (p.Ala976=) c.2860_2861delinsGC (p.Ala954=) c.1426_1427delinsGC (p.Ala476=) c.778_779delinsGC (p.Ala260=) c.565_566delinsGC (p.Ala189=) c.2839_2840delinsGC (p.Ala947=) c.2974_2975delinsGC (p.Ala992=) c.2980_2981delinsGC (p.Ala994=) c.2896_2897delinsGC (p.Ala966=) c.2824_2825delinsGC (p.Ala942=) c.2758_2759delinsGC (p.Ala920=) c.2119_2120delinsGC (p.Ala707=) c.2737_2738delinsGC (p.Ala913=) | |
| 9 | g.137813134C>A | CA375793665 | EHMT1 | c.2996C>A (p.Ala999Asp) c.2882C>A (p.Ala961Asp) c.2903C>A (p.Ala968Asp) c.3036C>A (n.3036C>A) c.890C>A (p.Ala297Asp) c.1853C>A (p.Ala618Asp) c.683C>A n.522C>A c.2987C>A (p.Ala996Asp) c.2978C>A (p.Ala993Asp) c.3005C>A (p.Ala1002Asp) c.3002C>A (p.Ala1001Asp) c.2984C>A (p.Ala995Asp) c.2927C>A (p.Ala976Asp) c.2861C>A (p.Ala954Asp) c.1427C>A (p.Ala476Asp) c.779C>A (p.Ala260Asp) c.566C>A (p.Ala189Asp) c.2840C>A (p.Ala947Asp) c.2975C>A (p.Ala992Asp) c.2981C>A (p.Ala994Asp) c.2897C>A (p.Ala966Asp) c.2825C>A (p.Ala942Asp) c.2759C>A (p.Ala920Asp) c.2120C>A (p.Ala707Asp) c.2738C>A (p.Ala913Asp) | dbSNP |
| 9 | g.137813134C= | CA1884685722 | EHMT1 | c.2996C= (p.Ala999=) c.2882C= (p.Ala961=) c.2903C= (p.Ala968=) c.3036C= (n.3036C=) c.890C= (p.Ala297=) c.1853C= (p.Ala618=) c.683C= n.522C= c.2987C= (p.Ala996=) c.2978C= (p.Ala993=) c.3005C= (p.Ala1002=) c.3002C= (p.Ala1001=) c.2984C= (p.Ala995=) c.2927C= (p.Ala976=) c.2861C= (p.Ala954=) c.1427C= (p.Ala476=) c.779C= (p.Ala260=) c.566C= (p.Ala189=) c.2840C= (p.Ala947=) c.2975C= (p.Ala992=) c.2981C= (p.Ala994=) c.2897C= (p.Ala966=) c.2825C= (p.Ala942=) c.2759C= (p.Ala920=) c.2120C= (p.Ala707=) c.2738C= (p.Ala913=) | |
| 9 | g.137813134C>G | CA375793666 | EHMT1 | c.2996C>G (p.Ala999Gly) c.2882C>G (p.Ala961Gly) c.2903C>G (p.Ala968Gly) c.3036C>G (n.3036C>G) c.890C>G (p.Ala297Gly) c.1853C>G (p.Ala618Gly) c.683C>G n.522C>G c.2987C>G (p.Ala996Gly) c.2978C>G (p.Ala993Gly) c.3005C>G (p.Ala1002Gly) c.3002C>G (p.Ala1001Gly) c.2984C>G (p.Ala995Gly) c.2927C>G (p.Ala976Gly) c.2861C>G (p.Ala954Gly) c.1427C>G (p.Ala476Gly) c.779C>G (p.Ala260Gly) c.566C>G (p.Ala189Gly) c.2840C>G (p.Ala947Gly) c.2975C>G (p.Ala992Gly) c.2981C>G (p.Ala994Gly) c.2897C>G (p.Ala966Gly) c.2825C>G (p.Ala942Gly) c.2759C>G (p.Ala920Gly) c.2120C>G (p.Ala707Gly) c.2738C>G (p.Ala913Gly) | ClinVar |
| 9 | g.137813134C>T | CA207861 | EHMT1 | c.2996C>T (p.Ala999Val) c.2882C>T (p.Ala961Val) c.2903C>T (p.Ala968Val) c.3036C>T (n.3036C>T) c.890C>T (p.Ala297Val) c.1853C>T (p.Ala618Val) c.683C>T n.522C>T c.2987C>T (p.Ala996Val) c.2978C>T (p.Ala993Val) c.3005C>T (p.Ala1002Val) c.3002C>T (p.Ala1001Val) c.2984C>T (p.Ala995Val) c.2927C>T (p.Ala976Val) c.2861C>T (p.Ala954Val) c.1427C>T (p.Ala476Val) c.779C>T (p.Ala260Val) c.566C>T (p.Ala189Val) c.2840C>T (p.Ala947Val) c.2975C>T (p.Ala992Val) c.2981C>T (p.Ala994Val) c.2897C>T (p.Ala966Val) c.2825C>T (p.Ala942Val) c.2759C>T (p.Ala920Val) c.2120C>T (p.Ala707Val) c.2738C>T (p.Ala913Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813138del | CA1884685721 | EHMT1 | c.3000del (p.Asp1001ThrfsTer9) c.2886del (p.Asp963ThrfsTer9) c.2907del (p.Asp970ThrfsTer9) c.3040del (n.3040del) c.894del (p.Asp299ThrfsTer9) c.1857del (p.Asp620ThrfsTer9) c.687del n.526del c.2991del (p.Asp998ThrfsTer9) c.2982del (p.Asp995ThrfsTer9) c.3009del (p.Asp1004ThrfsTer9) c.3006del (p.Asp1003ThrfsTer9) c.2988del (p.Asp997ThrfsTer9) c.2931del (p.Asp978ThrfsTer9) c.2865del (p.Asp956ThrfsTer9) c.1431del (p.Asp478ThrfsTer9) c.783del (p.Asp262ThrfsTer9) c.570del (p.Asp191ThrfsTer9) c.2844del (p.Asp949ThrfsTer9) c.2979del (p.Asp994ThrfsTer9) c.2985del (p.Asp996ThrfsTer9) c.2901del (p.Asp968ThrfsTer9) c.2829del (p.Asp944ThrfsTer9) c.2763del (p.Asp922ThrfsTer9) c.2124del (p.Asp709ThrfsTer9) c.2742del (p.Asp915ThrfsTer9) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813135C>A | CA468161090 | EHMT1 | c.2997C>A (p.Ala999=) c.2883C>A (p.Ala961=) c.2904C>A (p.Ala968=) c.3037C>A (n.3037C>A) c.891C>A (p.Ala297=) c.1854C>A (p.Ala618=) c.684C>A n.523C>A c.2988C>A (p.Ala996=) c.2979C>A (p.Ala993=) c.3006C>A (p.Ala1002=) c.3003C>A (p.Ala1001=) c.2985C>A (p.Ala995=) c.2928C>A (p.Ala976=) c.2862C>A (p.Ala954=) c.1428C>A (p.Ala476=) c.780C>A (p.Ala260=) c.567C>A (p.Ala189=) c.2841C>A (p.Ala947=) c.2976C>A (p.Ala992=) c.2982C>A (p.Ala994=) c.2898C>A (p.Ala966=) c.2826C>A (p.Ala942=) c.2760C>A (p.Ala920=) c.2121C>A (p.Ala707=) c.2739C>A (p.Ala913=) | |
| 9 | g.137813135C= | CA1884685723 | EHMT1 | c.2997C= (p.Ala999=) c.2883C= (p.Ala961=) c.2904C= (p.Ala968=) c.3037C= (n.3037C=) c.891C= (p.Ala297=) c.1854C= (p.Ala618=) c.684C= n.523C= c.2988C= (p.Ala996=) c.2979C= (p.Ala993=) c.3006C= (p.Ala1002=) c.3003C= (p.Ala1001=) c.2985C= (p.Ala995=) c.2928C= (p.Ala976=) c.2862C= (p.Ala954=) c.1428C= (p.Ala476=) c.780C= (p.Ala260=) c.567C= (p.Ala189=) c.2841C= (p.Ala947=) c.2976C= (p.Ala992=) c.2982C= (p.Ala994=) c.2898C= (p.Ala966=) c.2826C= (p.Ala942=) c.2760C= (p.Ala920=) c.2121C= (p.Ala707=) c.2739C= (p.Ala913=) | |
| 9 | g.137813135C>G | CA5375123 | EHMT1 | c.2997C>G (p.Ala999=) c.2883C>G (p.Ala961=) c.2904C>G (p.Ala968=) c.3037C>G (n.3037C>G) c.891C>G (p.Ala297=) c.1854C>G (p.Ala618=) c.684C>G n.523C>G c.2988C>G (p.Ala996=) c.2979C>G (p.Ala993=) c.3006C>G (p.Ala1002=) c.3003C>G (p.Ala1001=) c.2985C>G (p.Ala995=) c.2928C>G (p.Ala976=) c.2862C>G (p.Ala954=) c.1428C>G (p.Ala476=) c.780C>G (p.Ala260=) c.567C>G (p.Ala189=) c.2841C>G (p.Ala947=) c.2976C>G (p.Ala992=) c.2982C>G (p.Ala994=) c.2898C>G (p.Ala966=) c.2826C>G (p.Ala942=) c.2760C>G (p.Ala920=) c.2121C>G (p.Ala707=) c.2739C>G (p.Ala913=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813135C>T | CA468161091 | EHMT1 | c.2997C>T (p.Ala999=) c.2883C>T (p.Ala961=) c.2904C>T (p.Ala968=) c.3037C>T (n.3037C>T) c.891C>T (p.Ala297=) c.1854C>T (p.Ala618=) c.684C>T n.523C>T c.2988C>T (p.Ala996=) c.2979C>T (p.Ala993=) c.3006C>T (p.Ala1002=) c.3003C>T (p.Ala1001=) c.2985C>T (p.Ala995=) c.2928C>T (p.Ala976=) c.2862C>T (p.Ala954=) c.1428C>T (p.Ala476=) c.780C>T (p.Ala260=) c.567C>T (p.Ala189=) c.2841C>T (p.Ala947=) c.2976C>T (p.Ala992=) c.2982C>T (p.Ala994=) c.2898C>T (p.Ala966=) c.2826C>T (p.Ala942=) c.2760C>T (p.Ala920=) c.2121C>T (p.Ala707=) c.2739C>T (p.Ala913=) | gnomAD v4 |
| 9 | g.137813136C>A | CA375793667 | EHMT1 | c.2998C>A (p.Pro1000Thr) c.2884C>A (p.Pro962Thr) c.2905C>A (p.Pro969Thr) c.3038C>A (n.3038C>A) c.892C>A (p.Pro298Thr) c.1855C>A (p.Pro619Thr) c.685C>A n.524C>A c.2989C>A (p.Pro997Thr) c.2980C>A (p.Pro994Thr) c.3007C>A (p.Pro1003Thr) c.3004C>A (p.Pro1002Thr) c.2986C>A (p.Pro996Thr) c.2929C>A (p.Pro977Thr) c.2863C>A (p.Pro955Thr) c.1429C>A (p.Pro477Thr) c.781C>A (p.Pro261Thr) c.568C>A (p.Pro190Thr) c.2842C>A (p.Pro948Thr) c.2977C>A (p.Pro993Thr) c.2983C>A (p.Pro995Thr) c.2899C>A (p.Pro967Thr) c.2827C>A (p.Pro943Thr) c.2761C>A (p.Pro921Thr) c.2122C>A (p.Pro708Thr) c.2740C>A (p.Pro914Thr) | |
| 9 | g.137813136C>G | CA375793668 | EHMT1 | c.2998C>G (p.Pro1000Ala) c.2884C>G (p.Pro962Ala) c.2905C>G (p.Pro969Ala) c.3038C>G (n.3038C>G) c.892C>G (p.Pro298Ala) c.1855C>G (p.Pro619Ala) c.685C>G n.524C>G c.2989C>G (p.Pro997Ala) c.2980C>G (p.Pro994Ala) c.3007C>G (p.Pro1003Ala) c.3004C>G (p.Pro1002Ala) c.2986C>G (p.Pro996Ala) c.2929C>G (p.Pro977Ala) c.2863C>G (p.Pro955Ala) c.1429C>G (p.Pro477Ala) c.781C>G (p.Pro261Ala) c.568C>G (p.Pro190Ala) c.2842C>G (p.Pro948Ala) c.2977C>G (p.Pro993Ala) c.2983C>G (p.Pro995Ala) c.2899C>G (p.Pro967Ala) c.2827C>G (p.Pro943Ala) c.2761C>G (p.Pro921Ala) c.2122C>G (p.Pro708Ala) c.2740C>G (p.Pro914Ala) | |
| 9 | g.137813136C>T | CA375793669 | EHMT1 | c.2998C>T (p.Pro1000Ser) c.2884C>T (p.Pro962Ser) c.2905C>T (p.Pro969Ser) c.3038C>T (n.3038C>T) c.892C>T (p.Pro298Ser) c.1855C>T (p.Pro619Ser) c.685C>T n.524C>T c.2989C>T (p.Pro997Ser) c.2980C>T (p.Pro994Ser) c.3007C>T (p.Pro1003Ser) c.3004C>T (p.Pro1002Ser) c.2986C>T (p.Pro996Ser) c.2929C>T (p.Pro977Ser) c.2863C>T (p.Pro955Ser) c.1429C>T (p.Pro477Ser) c.781C>T (p.Pro261Ser) c.568C>T (p.Pro190Ser) c.2842C>T (p.Pro948Ser) c.2977C>T (p.Pro993Ser) c.2983C>T (p.Pro995Ser) c.2899C>T (p.Pro967Ser) c.2827C>T (p.Pro943Ser) c.2761C>T (p.Pro921Ser) c.2122C>T (p.Pro708Ser) c.2740C>T (p.Pro914Ser) | |
| 9 | g.137813137C>A | CA375793671 | EHMT1 | c.2999C>A (p.Pro1000His) c.2885C>A (p.Pro962His) c.2906C>A (p.Pro969His) c.3039C>A (n.3039C>A) c.893C>A (p.Pro298His) c.1856C>A (p.Pro619His) c.686C>A n.525C>A c.2990C>A (p.Pro997His) c.2981C>A (p.Pro994His) c.3008C>A (p.Pro1003His) c.3005C>A (p.Pro1002His) c.2987C>A (p.Pro996His) c.2930C>A (p.Pro977His) c.2864C>A (p.Pro955His) c.1430C>A (p.Pro477His) c.782C>A (p.Pro261His) c.569C>A (p.Pro190His) c.2843C>A (p.Pro948His) c.2978C>A (p.Pro993His) c.2984C>A (p.Pro995His) c.2900C>A (p.Pro967His) c.2828C>A (p.Pro943His) c.2762C>A (p.Pro921His) c.2123C>A (p.Pro708His) c.2741C>A (p.Pro914His) | |
| 9 | g.137813137C= | CA1884685724 | EHMT1 | c.2999C= (p.Pro1000=) c.2885C= (p.Pro962=) c.2906C= (p.Pro969=) c.3039C= (n.3039C=) c.893C= (p.Pro298=) c.1856C= (p.Pro619=) c.686C= n.525C= c.2990C= (p.Pro997=) c.2981C= (p.Pro994=) c.3008C= (p.Pro1003=) c.3005C= (p.Pro1002=) c.2987C= (p.Pro996=) c.2930C= (p.Pro977=) c.2864C= (p.Pro955=) c.1430C= (p.Pro477=) c.782C= (p.Pro261=) c.569C= (p.Pro190=) c.2843C= (p.Pro948=) c.2978C= (p.Pro993=) c.2984C= (p.Pro995=) c.2900C= (p.Pro967=) c.2828C= (p.Pro943=) c.2762C= (p.Pro921=) c.2123C= (p.Pro708=) c.2741C= (p.Pro914=) | |
| 9 | g.137813137C>G | CA375793672 | EHMT1 | c.2999C>G (p.Pro1000Arg) c.2885C>G (p.Pro962Arg) c.2906C>G (p.Pro969Arg) c.3039C>G (n.3039C>G) c.893C>G (p.Pro298Arg) c.1856C>G (p.Pro619Arg) c.686C>G n.525C>G c.2990C>G (p.Pro997Arg) c.2981C>G (p.Pro994Arg) c.3008C>G (p.Pro1003Arg) c.3005C>G (p.Pro1002Arg) c.2987C>G (p.Pro996Arg) c.2930C>G (p.Pro977Arg) c.2864C>G (p.Pro955Arg) c.1430C>G (p.Pro477Arg) c.782C>G (p.Pro261Arg) c.569C>G (p.Pro190Arg) c.2843C>G (p.Pro948Arg) c.2978C>G (p.Pro993Arg) c.2984C>G (p.Pro995Arg) c.2900C>G (p.Pro967Arg) c.2828C>G (p.Pro943Arg) c.2762C>G (p.Pro921Arg) c.2123C>G (p.Pro708Arg) c.2741C>G (p.Pro914Arg) | dbSNP |
| 9 | g.137813137C>T | CA375793670 | EHMT1 | c.2999C>T (p.Pro1000Leu) c.2885C>T (p.Pro962Leu) c.2906C>T (p.Pro969Leu) c.3039C>T (n.3039C>T) c.893C>T (p.Pro298Leu) c.1856C>T (p.Pro619Leu) c.686C>T n.525C>T c.2990C>T (p.Pro997Leu) c.2981C>T (p.Pro994Leu) c.3008C>T (p.Pro1003Leu) c.3005C>T (p.Pro1002Leu) c.2987C>T (p.Pro996Leu) c.2930C>T (p.Pro977Leu) c.2864C>T (p.Pro955Leu) c.1430C>T (p.Pro477Leu) c.782C>T (p.Pro261Leu) c.569C>T (p.Pro190Leu) c.2843C>T (p.Pro948Leu) c.2978C>T (p.Pro993Leu) c.2984C>T (p.Pro995Leu) c.2900C>T (p.Pro967Leu) c.2828C>T (p.Pro943Leu) c.2762C>T (p.Pro921Leu) c.2123C>T (p.Pro708Leu) c.2741C>T (p.Pro914Leu) | |
| 9 | g.137813138C>A | CA468161092 | EHMT1 | c.3000C>A (p.Pro1000=) c.2886C>A (p.Pro962=) c.2907C>A (p.Pro969=) c.3040C>A (n.3040C>A) c.894C>A (p.Pro298=) c.1857C>A (p.Pro619=) c.687C>A n.526C>A c.2991C>A (p.Pro997=) c.2982C>A (p.Pro994=) c.3009C>A (p.Pro1003=) c.3006C>A (p.Pro1002=) c.2988C>A (p.Pro996=) c.2931C>A (p.Pro977=) c.2865C>A (p.Pro955=) c.1431C>A (p.Pro477=) c.783C>A (p.Pro261=) c.570C>A (p.Pro190=) c.2844C>A (p.Pro948=) c.2979C>A (p.Pro993=) c.2985C>A (p.Pro995=) c.2901C>A (p.Pro967=) c.2829C>A (p.Pro943=) c.2763C>A (p.Pro921=) c.2124C>A (p.Pro708=) c.2742C>A (p.Pro914=) | |
| 9 | g.137813138C= | CA1884685725 | EHMT1 | c.3000C= (p.Pro1000=) c.2886C= (p.Pro962=) c.2907C= (p.Pro969=) c.3040C= (n.3040C=) c.894C= (p.Pro298=) c.1857C= (p.Pro619=) c.687C= n.526C= c.2991C= (p.Pro997=) c.2982C= (p.Pro994=) c.3009C= (p.Pro1003=) c.3006C= (p.Pro1002=) c.2988C= (p.Pro996=) c.2931C= (p.Pro977=) c.2865C= (p.Pro955=) c.1431C= (p.Pro477=) c.783C= (p.Pro261=) c.570C= (p.Pro190=) c.2844C= (p.Pro948=) c.2979C= (p.Pro993=) c.2985C= (p.Pro995=) c.2901C= (p.Pro967=) c.2829C= (p.Pro943=) c.2763C= (p.Pro921=) c.2124C= (p.Pro708=) c.2742C= (p.Pro914=) | |
| 9 | g.137813138C>G | CA468161093 | EHMT1 | c.3000C>G (p.Pro1000=) c.2886C>G (p.Pro962=) c.2907C>G (p.Pro969=) c.3040C>G (n.3040C>G) c.894C>G (p.Pro298=) c.1857C>G (p.Pro619=) c.687C>G n.526C>G c.2991C>G (p.Pro997=) c.2982C>G (p.Pro994=) c.3009C>G (p.Pro1003=) c.3006C>G (p.Pro1002=) c.2988C>G (p.Pro996=) c.2931C>G (p.Pro977=) c.2865C>G (p.Pro955=) c.1431C>G (p.Pro477=) c.783C>G (p.Pro261=) c.570C>G (p.Pro190=) c.2844C>G (p.Pro948=) c.2979C>G (p.Pro993=) c.2985C>G (p.Pro995=) c.2901C>G (p.Pro967=) c.2829C>G (p.Pro943=) c.2763C>G (p.Pro921=) c.2124C>G (p.Pro708=) c.2742C>G (p.Pro914=) | |
| 9 | g.137813138C>T | CA149295 | EHMT1 | c.3000C>T (p.Pro1000=) c.2886C>T (p.Pro962=) c.2907C>T (p.Pro969=) c.3040C>T (n.3040C>T) c.894C>T (p.Pro298=) c.1857C>T (p.Pro619=) c.687C>T n.526C>T c.2991C>T (p.Pro997=) c.2982C>T (p.Pro994=) c.3009C>T (p.Pro1003=) c.3006C>T (p.Pro1002=) c.2988C>T (p.Pro996=) c.2931C>T (p.Pro977=) c.2865C>T (p.Pro955=) c.1431C>T (p.Pro477=) c.783C>T (p.Pro261=) c.570C>T (p.Pro190=) c.2844C>T (p.Pro948=) c.2979C>T (p.Pro993=) c.2985C>T (p.Pro995=) c.2901C>T (p.Pro967=) c.2829C>T (p.Pro943=) c.2763C>T (p.Pro921=) c.2124C>T (p.Pro708=) c.2742C>T (p.Pro914=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813139G>A | CA5375124 | EHMT1 | c.3001G>A (p.Asp1001Asn) c.2887G>A (p.Asp963Asn) c.2908G>A (p.Asp970Asn) c.3041G>A (n.3041G>A) c.895G>A (p.Asp299Asn) c.1858G>A (p.Asp620Asn) c.688G>A n.527G>A c.2992G>A (p.Asp998Asn) c.2983G>A (p.Asp995Asn) c.3010G>A (p.Asp1004Asn) c.3007G>A (p.Asp1003Asn) c.2989G>A (p.Asp997Asn) c.2932G>A (p.Asp978Asn) c.2866G>A (p.Asp956Asn) c.1432G>A (p.Asp478Asn) c.784G>A (p.Asp262Asn) c.571G>A (p.Asp191Asn) c.2845G>A (p.Asp949Asn) c.2980G>A (p.Asp994Asn) c.2986G>A (p.Asp996Asn) c.2902G>A (p.Asp968Asn) c.2830G>A (p.Asp944Asn) c.2764G>A (p.Asp922Asn) c.2125G>A (p.Asp709Asn) c.2743G>A (p.Asp915Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813139G>C | CA375793673 | EHMT1 | c.3001G>C (p.Asp1001His) c.2887G>C (p.Asp963His) c.2908G>C (p.Asp970His) c.3041G>C (n.3041G>C) c.895G>C (p.Asp299His) c.1858G>C (p.Asp620His) c.688G>C n.527G>C c.2992G>C (p.Asp998His) c.2983G>C (p.Asp995His) c.3010G>C (p.Asp1004His) c.3007G>C (p.Asp1003His) c.2989G>C (p.Asp997His) c.2932G>C (p.Asp978His) c.2866G>C (p.Asp956His) c.1432G>C (p.Asp478His) c.784G>C (p.Asp262His) c.571G>C (p.Asp191His) c.2845G>C (p.Asp949His) c.2980G>C (p.Asp994His) c.2986G>C (p.Asp996His) c.2902G>C (p.Asp968His) c.2830G>C (p.Asp944His) c.2764G>C (p.Asp922His) c.2125G>C (p.Asp709His) c.2743G>C (p.Asp915His) | |
| 9 | g.137813139G= | CA1884685726 | EHMT1 | c.3001G= (p.Asp1001=) c.2887G= (p.Asp963=) c.2908G= (p.Asp970=) c.3041G= (n.3041G=) c.895G= (p.Asp299=) c.1858G= (p.Asp620=) c.688G= n.527G= c.2992G= (p.Asp998=) c.2983G= (p.Asp995=) c.3010G= (p.Asp1004=) c.3007G= (p.Asp1003=) c.2989G= (p.Asp997=) c.2932G= (p.Asp978=) c.2866G= (p.Asp956=) c.1432G= (p.Asp478=) c.784G= (p.Asp262=) c.571G= (p.Asp191=) c.2845G= (p.Asp949=) c.2980G= (p.Asp994=) c.2986G= (p.Asp996=) c.2902G= (p.Asp968=) c.2830G= (p.Asp944=) c.2764G= (p.Asp922=) c.2125G= (p.Asp709=) c.2743G= (p.Asp915=) | |
| 9 | g.137813139G>T | CA375793674 | EHMT1 | c.3001G>T (p.Asp1001Tyr) c.2887G>T (p.Asp963Tyr) c.2908G>T (p.Asp970Tyr) c.3041G>T (n.3041G>T) c.895G>T (p.Asp299Tyr) c.1858G>T (p.Asp620Tyr) c.688G>T n.527G>T c.2992G>T (p.Asp998Tyr) c.2983G>T (p.Asp995Tyr) c.3010G>T (p.Asp1004Tyr) c.3007G>T (p.Asp1003Tyr) c.2989G>T (p.Asp997Tyr) c.2932G>T (p.Asp978Tyr) c.2866G>T (p.Asp956Tyr) c.1432G>T (p.Asp478Tyr) c.784G>T (p.Asp262Tyr) c.571G>T (p.Asp191Tyr) c.2845G>T (p.Asp949Tyr) c.2980G>T (p.Asp994Tyr) c.2986G>T (p.Asp996Tyr) c.2902G>T (p.Asp968Tyr) c.2830G>T (p.Asp944Tyr) c.2764G>T (p.Asp922Tyr) c.2125G>T (p.Asp709Tyr) c.2743G>T (p.Asp915Tyr) | gnomAD v4 |
| 9 | g.137813140A>C | CA375793675 | EHMT1 | c.3002A>C (p.Asp1001Ala) c.2888A>C (p.Asp963Ala) c.2909A>C (p.Asp970Ala) c.3042A>C (n.3042A>C) c.896A>C (p.Asp299Ala) c.1859A>C (p.Asp620Ala) c.689A>C n.528A>C c.2993A>C (p.Asp998Ala) c.2984A>C (p.Asp995Ala) c.3011A>C (p.Asp1004Ala) c.3008A>C (p.Asp1003Ala) c.2990A>C (p.Asp997Ala) c.2933A>C (p.Asp978Ala) c.2867A>C (p.Asp956Ala) c.1433A>C (p.Asp478Ala) c.785A>C (p.Asp262Ala) c.572A>C (p.Asp191Ala) c.2846A>C (p.Asp949Ala) c.2981A>C (p.Asp994Ala) c.2987A>C (p.Asp996Ala) c.2903A>C (p.Asp968Ala) c.2831A>C (p.Asp944Ala) c.2765A>C (p.Asp922Ala) c.2126A>C (p.Asp709Ala) c.2744A>C (p.Asp915Ala) | |
| 9 | g.137813140A>G | CA375793676 | EHMT1 | c.3002A>G (p.Asp1001Gly) c.2888A>G (p.Asp963Gly) c.2909A>G (p.Asp970Gly) c.3042A>G (n.3042A>G) c.896A>G (p.Asp299Gly) c.1859A>G (p.Asp620Gly) c.689A>G n.528A>G c.2993A>G (p.Asp998Gly) c.2984A>G (p.Asp995Gly) c.3011A>G (p.Asp1004Gly) c.3008A>G (p.Asp1003Gly) c.2990A>G (p.Asp997Gly) c.2933A>G (p.Asp978Gly) c.2867A>G (p.Asp956Gly) c.1433A>G (p.Asp478Gly) c.785A>G (p.Asp262Gly) c.572A>G (p.Asp191Gly) c.2846A>G (p.Asp949Gly) c.2981A>G (p.Asp994Gly) c.2987A>G (p.Asp996Gly) c.2903A>G (p.Asp968Gly) c.2831A>G (p.Asp944Gly) c.2765A>G (p.Asp922Gly) c.2126A>G (p.Asp709Gly) c.2744A>G (p.Asp915Gly) | |
| 9 | g.137813140A>T | CA375793677 | EHMT1 | c.3002A>T (p.Asp1001Val) c.2888A>T (p.Asp963Val) c.2909A>T (p.Asp970Val) c.3042A>T (n.3042A>T) c.896A>T (p.Asp299Val) c.1859A>T (p.Asp620Val) c.689A>T n.528A>T c.2993A>T (p.Asp998Val) c.2984A>T (p.Asp995Val) c.3011A>T (p.Asp1004Val) c.3008A>T (p.Asp1003Val) c.2990A>T (p.Asp997Val) c.2933A>T (p.Asp978Val) c.2867A>T (p.Asp956Val) c.1433A>T (p.Asp478Val) c.785A>T (p.Asp262Val) c.572A>T (p.Asp191Val) c.2846A>T (p.Asp949Val) c.2981A>T (p.Asp994Val) c.2987A>T (p.Asp996Val) c.2903A>T (p.Asp968Val) c.2831A>T (p.Asp944Val) c.2765A>T (p.Asp922Val) c.2126A>T (p.Asp709Val) c.2744A>T (p.Asp915Val) | |
| 9 | g.137813141C>A | CA375793678 | EHMT1 | c.3003C>A (p.Asp1001Glu) c.2889C>A (p.Asp963Glu) c.2910C>A (p.Asp970Glu) c.3043C>A (n.3043C>A) c.897C>A (p.Asp299Glu) c.1860C>A (p.Asp620Glu) c.690C>A n.529C>A c.2994C>A (p.Asp998Glu) c.2985C>A (p.Asp995Glu) c.3012C>A (p.Asp1004Glu) c.3009C>A (p.Asp1003Glu) c.2991C>A (p.Asp997Glu) c.2934C>A (p.Asp978Glu) c.2868C>A (p.Asp956Glu) c.1434C>A (p.Asp478Glu) c.786C>A (p.Asp262Glu) c.573C>A (p.Asp191Glu) c.2847C>A (p.Asp949Glu) c.2982C>A (p.Asp994Glu) c.2988C>A (p.Asp996Glu) c.2904C>A (p.Asp968Glu) c.2832C>A (p.Asp944Glu) c.2766C>A (p.Asp922Glu) c.2127C>A (p.Asp709Glu) c.2745C>A (p.Asp915Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137813141C= | CA1884685727 | EHMT1 | c.3003C= (p.Asp1001=) c.2889C= (p.Asp963=) c.2910C= (p.Asp970=) c.3043C= (n.3043C=) c.897C= (p.Asp299=) c.1860C= (p.Asp620=) c.690C= n.529C= c.2994C= (p.Asp998=) c.2985C= (p.Asp995=) c.3012C= (p.Asp1004=) c.3009C= (p.Asp1003=) c.2991C= (p.Asp997=) c.2934C= (p.Asp978=) c.2868C= (p.Asp956=) c.1434C= (p.Asp478=) c.786C= (p.Asp262=) c.573C= (p.Asp191=) c.2847C= (p.Asp949=) c.2982C= (p.Asp994=) c.2988C= (p.Asp996=) c.2904C= (p.Asp968=) c.2832C= (p.Asp944=) c.2766C= (p.Asp922=) c.2127C= (p.Asp709=) c.2745C= (p.Asp915=) | |
| 9 | g.137813141C>G | CA375793679 | EHMT1 | c.3003C>G (p.Asp1001Glu) c.2889C>G (p.Asp963Glu) c.2910C>G (p.Asp970Glu) c.3043C>G (n.3043C>G) c.897C>G (p.Asp299Glu) c.1860C>G (p.Asp620Glu) c.690C>G n.529C>G c.2994C>G (p.Asp998Glu) c.2985C>G (p.Asp995Glu) c.3012C>G (p.Asp1004Glu) c.3009C>G (p.Asp1003Glu) c.2991C>G (p.Asp997Glu) c.2934C>G (p.Asp978Glu) c.2868C>G (p.Asp956Glu) c.1434C>G (p.Asp478Glu) c.786C>G (p.Asp262Glu) c.573C>G (p.Asp191Glu) c.2847C>G (p.Asp949Glu) c.2982C>G (p.Asp994Glu) c.2988C>G (p.Asp996Glu) c.2904C>G (p.Asp968Glu) c.2832C>G (p.Asp944Glu) c.2766C>G (p.Asp922Glu) c.2127C>G (p.Asp709Glu) c.2745C>G (p.Asp915Glu) | |
| 9 | g.137813141C>T | CA468161094 | EHMT1 | c.3003C>T (p.Asp1001=) c.2889C>T (p.Asp963=) c.2910C>T (p.Asp970=) c.3043C>T (n.3043C>T) c.897C>T (p.Asp299=) c.1860C>T (p.Asp620=) c.690C>T n.529C>T c.2994C>T (p.Asp998=) c.2985C>T (p.Asp995=) c.3012C>T (p.Asp1004=) c.3009C>T (p.Asp1003=) c.2991C>T (p.Asp997=) c.2934C>T (p.Asp978=) c.2868C>T (p.Asp956=) c.1434C>T (p.Asp478=) c.786C>T (p.Asp262=) c.573C>T (p.Asp191=) c.2847C>T (p.Asp949=) c.2982C>T (p.Asp994=) c.2988C>T (p.Asp996=) c.2904C>T (p.Asp968=) c.2832C>T (p.Asp944=) c.2766C>T (p.Asp922=) c.2127C>T (p.Asp709=) c.2745C>T (p.Asp915=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813144_137813149dup | CA2692890676 | EHMT1 | c.3006_3011dup (p.Pro1003_Ser1004insArgPro) c.2892_2897dup (p.Pro965_Ser966insArgPro) c.2913_2918dup (p.Pro972_Ser973insArgPro) c.3046_3051dup (n.3046_3051dup) c.900_905dup (p.Pro301_Ser302insArgPro) c.1863_1868dup (p.Pro622_Ser623insArgPro) c.693_698dup n.532_537dup c.2997_3002dup (p.Pro1000_Ser1001insArgPro) c.2988_2993dup (p.Pro997_Ser998insArgPro) c.3015_3020dup (p.Pro1006_Ser1007insArgPro) c.3012_3017dup (p.Pro1005_Ser1006insArgPro) c.2994_2999dup (p.Pro999_Ser1000insArgPro) c.2937_2942dup (p.Pro980_Ser981insArgPro) c.2871_2876dup (p.Pro958_Ser959insArgPro) c.1437_1442dup (p.Pro480_Ser481insArgPro) c.789_794dup (p.Pro264_Ser265insArgPro) c.576_581dup (p.Pro193_Ser194insArgPro) c.2850_2855dup (p.Pro951_Ser952insArgPro) c.2985_2990dup (p.Pro996_Ser997insArgPro) c.2991_2996dup (p.Pro998_Ser999insArgPro) c.2907_2912dup (p.Pro970_Ser971insArgPro) c.2835_2840dup (p.Pro946_Ser947insArgPro) c.2769_2774dup (p.Pro924_Ser925insArgPro) c.2130_2135dup (p.Pro711_Ser712insArgPro) c.2748_2753dup (p.Pro917_Ser918insArgPro) | gnomAD v4 |
| 9 | g.137813142A>C | CA468161095 | EHMT1 | c.3004A>C (p.Arg1002=) c.2890A>C (p.Arg964=) c.2911A>C (p.Arg971=) c.3044A>C (n.3044A>C) c.898A>C (p.Arg300=) c.1861A>C (p.Arg621=) c.691A>C n.530A>C c.2995A>C (p.Arg999=) c.2986A>C (p.Arg996=) c.3013A>C (p.Arg1005=) c.3010A>C (p.Arg1004=) c.2992A>C (p.Arg998=) c.2935A>C (p.Arg979=) c.2869A>C (p.Arg957=) c.1435A>C (p.Arg479=) c.787A>C (p.Arg263=) c.574A>C (p.Arg192=) c.2848A>C (p.Arg950=) c.2983A>C (p.Arg995=) c.2989A>C (p.Arg997=) c.2905A>C (p.Arg969=) c.2833A>C (p.Arg945=) c.2767A>C (p.Arg923=) c.2128A>C (p.Arg710=) c.2746A>C (p.Arg916=) | |
| 9 | g.137813142A>G | CA375793680 | EHMT1 | c.3004A>G (p.Arg1002Gly) c.2890A>G (p.Arg964Gly) c.2911A>G (p.Arg971Gly) c.3044A>G (n.3044A>G) c.898A>G (p.Arg300Gly) c.1861A>G (p.Arg621Gly) c.691A>G n.530A>G c.2995A>G (p.Arg999Gly) c.2986A>G (p.Arg996Gly) c.3013A>G (p.Arg1005Gly) c.3010A>G (p.Arg1004Gly) c.2992A>G (p.Arg998Gly) c.2935A>G (p.Arg979Gly) c.2869A>G (p.Arg957Gly) c.1435A>G (p.Arg479Gly) c.787A>G (p.Arg263Gly) c.574A>G (p.Arg192Gly) c.2848A>G (p.Arg950Gly) c.2983A>G (p.Arg995Gly) c.2989A>G (p.Arg997Gly) c.2905A>G (p.Arg969Gly) c.2833A>G (p.Arg945Gly) c.2767A>G (p.Arg923Gly) c.2128A>G (p.Arg710Gly) c.2746A>G (p.Arg916Gly) | |
| 9 | g.137813142A>T | CA375793681 | EHMT1 | c.3004A>T (p.Arg1002Trp) c.2890A>T (p.Arg964Trp) c.2911A>T (p.Arg971Trp) c.3044A>T (n.3044A>T) c.898A>T (p.Arg300Trp) c.1861A>T (p.Arg621Trp) c.691A>T n.530A>T c.2995A>T (p.Arg999Trp) c.2986A>T (p.Arg996Trp) c.3013A>T (p.Arg1005Trp) c.3010A>T (p.Arg1004Trp) c.2992A>T (p.Arg998Trp) c.2935A>T (p.Arg979Trp) c.2869A>T (p.Arg957Trp) c.1435A>T (p.Arg479Trp) c.787A>T (p.Arg263Trp) c.574A>T (p.Arg192Trp) c.2848A>T (p.Arg950Trp) c.2983A>T (p.Arg995Trp) c.2989A>T (p.Arg997Trp) c.2905A>T (p.Arg969Trp) c.2833A>T (p.Arg945Trp) c.2767A>T (p.Arg923Trp) c.2128A>T (p.Arg710Trp) c.2746A>T (p.Arg916Trp) | |
| 9 | g.137813143G>A | CA375793683 | EHMT1 | c.3005G>A (p.Arg1002Lys) c.2891G>A (p.Arg964Lys) c.2912G>A (p.Arg971Lys) c.3045G>A (n.3045G>A) c.899G>A (p.Arg300Lys) c.1862G>A (p.Arg621Lys) c.692G>A n.531G>A c.2996G>A (p.Arg999Lys) c.2987G>A (p.Arg996Lys) c.3014G>A (p.Arg1005Lys) c.3011G>A (p.Arg1004Lys) c.2993G>A (p.Arg998Lys) c.2936G>A (p.Arg979Lys) c.2870G>A (p.Arg957Lys) c.1436G>A (p.Arg479Lys) c.788G>A (p.Arg263Lys) c.575G>A (p.Arg192Lys) c.2849G>A (p.Arg950Lys) c.2984G>A (p.Arg995Lys) c.2990G>A (p.Arg997Lys) c.2906G>A (p.Arg969Lys) c.2834G>A (p.Arg945Lys) c.2768G>A (p.Arg923Lys) c.2129G>A (p.Arg710Lys) c.2747G>A (p.Arg916Lys) | |
| 9 | g.137813143G>C | CA375793684 | EHMT1 | c.3005G>C (p.Arg1002Thr) c.2891G>C (p.Arg964Thr) c.2912G>C (p.Arg971Thr) c.3045G>C (n.3045G>C) c.899G>C (p.Arg300Thr) c.1862G>C (p.Arg621Thr) c.692G>C n.531G>C c.2996G>C (p.Arg999Thr) c.2987G>C (p.Arg996Thr) c.3014G>C (p.Arg1005Thr) c.3011G>C (p.Arg1004Thr) c.2993G>C (p.Arg998Thr) c.2936G>C (p.Arg979Thr) c.2870G>C (p.Arg957Thr) c.1436G>C (p.Arg479Thr) c.788G>C (p.Arg263Thr) c.575G>C (p.Arg192Thr) c.2849G>C (p.Arg950Thr) c.2984G>C (p.Arg995Thr) c.2990G>C (p.Arg997Thr) c.2906G>C (p.Arg969Thr) c.2834G>C (p.Arg945Thr) c.2768G>C (p.Arg923Thr) c.2129G>C (p.Arg710Thr) c.2747G>C (p.Arg916Thr) | gnomAD v4 |
| 9 | g.137813143G>T | CA375793682 | EHMT1 | c.3005G>T (p.Arg1002Met) c.2891G>T (p.Arg964Met) c.2912G>T (p.Arg971Met) c.3045G>T (n.3045G>T) c.899G>T (p.Arg300Met) c.1862G>T (p.Arg621Met) c.692G>T n.531G>T c.2996G>T (p.Arg999Met) c.2987G>T (p.Arg996Met) c.3014G>T (p.Arg1005Met) c.3011G>T (p.Arg1004Met) c.2993G>T (p.Arg998Met) c.2936G>T (p.Arg979Met) c.2870G>T (p.Arg957Met) c.1436G>T (p.Arg479Met) c.788G>T (p.Arg263Met) c.575G>T (p.Arg192Met) c.2849G>T (p.Arg950Met) c.2984G>T (p.Arg995Met) c.2990G>T (p.Arg997Met) c.2906G>T (p.Arg969Met) c.2834G>T (p.Arg945Met) c.2768G>T (p.Arg923Met) c.2129G>T (p.Arg710Met) c.2747G>T (p.Arg916Met) | gnomAD v4 |
| 9 | g.137813144G>A | CA468161096 | EHMT1 | c.3006G>A (p.Arg1002=) c.2892G>A (p.Arg964=) c.2913G>A (p.Arg971=) c.3046G>A (n.3046G>A) c.900G>A (p.Arg300=) c.1863G>A (p.Arg621=) c.693G>A n.532G>A c.2997G>A (p.Arg999=) c.2988G>A (p.Arg996=) c.3015G>A (p.Arg1005=) c.3012G>A (p.Arg1004=) c.2994G>A (p.Arg998=) c.2937G>A (p.Arg979=) c.2871G>A (p.Arg957=) c.1437G>A (p.Arg479=) c.789G>A (p.Arg263=) c.576G>A (p.Arg192=) c.2850G>A (p.Arg950=) c.2985G>A (p.Arg995=) c.2991G>A (p.Arg997=) c.2907G>A (p.Arg969=) c.2835G>A (p.Arg945=) c.2769G>A (p.Arg923=) c.2130G>A (p.Arg710=) c.2748G>A (p.Arg916=) | |
| 9 | g.137813144G>C | CA375793685 | EHMT1 | c.3006G>C (p.Arg1002Ser) c.2892G>C (p.Arg964Ser) c.2913G>C (p.Arg971Ser) c.3046G>C (n.3046G>C) c.900G>C (p.Arg300Ser) c.1863G>C (p.Arg621Ser) c.693G>C n.532G>C c.2997G>C (p.Arg999Ser) c.2988G>C (p.Arg996Ser) c.3015G>C (p.Arg1005Ser) c.3012G>C (p.Arg1004Ser) c.2994G>C (p.Arg998Ser) c.2937G>C (p.Arg979Ser) c.2871G>C (p.Arg957Ser) c.1437G>C (p.Arg479Ser) c.789G>C (p.Arg263Ser) c.576G>C (p.Arg192Ser) c.2850G>C (p.Arg950Ser) c.2985G>C (p.Arg995Ser) c.2991G>C (p.Arg997Ser) c.2907G>C (p.Arg969Ser) c.2835G>C (p.Arg945Ser) c.2769G>C (p.Arg923Ser) c.2130G>C (p.Arg710Ser) c.2748G>C (p.Arg916Ser) | |
| 9 | g.137813144G>T | CA375793686 | EHMT1 | c.3006G>T (p.Arg1002Ser) c.2892G>T (p.Arg964Ser) c.2913G>T (p.Arg971Ser) c.3046G>T (n.3046G>T) c.900G>T (p.Arg300Ser) c.1863G>T (p.Arg621Ser) c.693G>T n.532G>T c.2997G>T (p.Arg999Ser) c.2988G>T (p.Arg996Ser) c.3015G>T (p.Arg1005Ser) c.3012G>T (p.Arg1004Ser) c.2994G>T (p.Arg998Ser) c.2937G>T (p.Arg979Ser) c.2871G>T (p.Arg957Ser) c.1437G>T (p.Arg479Ser) c.789G>T (p.Arg263Ser) c.576G>T (p.Arg192Ser) c.2850G>T (p.Arg950Ser) c.2985G>T (p.Arg995Ser) c.2991G>T (p.Arg997Ser) c.2907G>T (p.Arg969Ser) c.2835G>T (p.Arg945Ser) c.2769G>T (p.Arg923Ser) c.2130G>T (p.Arg710Ser) c.2748G>T (p.Arg916Ser) | gnomAD v4 COSMIC COSMIC |
| 9 | g.137813145C>A | CA375793687 | EHMT1 | c.3007C>A (p.Pro1003Thr) c.2893C>A (p.Pro965Thr) c.2914C>A (p.Pro972Thr) c.3047C>A (n.3047C>A) c.901C>A (p.Pro301Thr) c.1864C>A (p.Pro622Thr) c.694C>A n.533C>A c.2998C>A (p.Pro1000Thr) c.2989C>A (p.Pro997Thr) c.3016C>A (p.Pro1006Thr) c.3013C>A (p.Pro1005Thr) c.2995C>A (p.Pro999Thr) c.2938C>A (p.Pro980Thr) c.2872C>A (p.Pro958Thr) c.1438C>A (p.Pro480Thr) c.790C>A (p.Pro264Thr) c.577C>A (p.Pro193Thr) c.2851C>A (p.Pro951Thr) c.2986C>A (p.Pro996Thr) c.2992C>A (p.Pro998Thr) c.2908C>A (p.Pro970Thr) c.2836C>A (p.Pro946Thr) c.2770C>A (p.Pro924Thr) c.2131C>A (p.Pro711Thr) c.2749C>A (p.Pro917Thr) | |
| 9 | g.137813145C>G | CA375793688 | EHMT1 | c.3007C>G (p.Pro1003Ala) c.2893C>G (p.Pro965Ala) c.2914C>G (p.Pro972Ala) c.3047C>G (n.3047C>G) c.901C>G (p.Pro301Ala) c.1864C>G (p.Pro622Ala) c.694C>G n.533C>G c.2998C>G (p.Pro1000Ala) c.2989C>G (p.Pro997Ala) c.3016C>G (p.Pro1006Ala) c.3013C>G (p.Pro1005Ala) c.2995C>G (p.Pro999Ala) c.2938C>G (p.Pro980Ala) c.2872C>G (p.Pro958Ala) c.1438C>G (p.Pro480Ala) c.790C>G (p.Pro264Ala) c.577C>G (p.Pro193Ala) c.2851C>G (p.Pro951Ala) c.2986C>G (p.Pro996Ala) c.2992C>G (p.Pro998Ala) c.2908C>G (p.Pro970Ala) c.2836C>G (p.Pro946Ala) c.2770C>G (p.Pro924Ala) c.2131C>G (p.Pro711Ala) c.2749C>G (p.Pro917Ala) | |
| 9 | g.137813145C>T | CA375793689 | EHMT1 | c.3007C>T (p.Pro1003Ser) c.2893C>T (p.Pro965Ser) c.2914C>T (p.Pro972Ser) c.3047C>T (n.3047C>T) c.901C>T (p.Pro301Ser) c.1864C>T (p.Pro622Ser) c.694C>T n.533C>T c.2998C>T (p.Pro1000Ser) c.2989C>T (p.Pro997Ser) c.3016C>T (p.Pro1006Ser) c.3013C>T (p.Pro1005Ser) c.2995C>T (p.Pro999Ser) c.2938C>T (p.Pro980Ser) c.2872C>T (p.Pro958Ser) c.1438C>T (p.Pro480Ser) c.790C>T (p.Pro264Ser) c.577C>T (p.Pro193Ser) c.2851C>T (p.Pro951Ser) c.2986C>T (p.Pro996Ser) c.2992C>T (p.Pro998Ser) c.2908C>T (p.Pro970Ser) c.2836C>T (p.Pro946Ser) c.2770C>T (p.Pro924Ser) c.2131C>T (p.Pro711Ser) c.2749C>T (p.Pro917Ser) | gnomAD v4 |
| 9 | g.137813148_137813153dup | CA2692890677 | EHMT1 | c.3010_3015dup (p.Pro1005_Val1006insSerPro) c.2896_2901dup (p.Pro967_Val968insSerPro) c.2917_2922dup (p.Pro974_Val975insSerPro) c.3050_3055dup (n.3050_3055dup) c.904_909dup (p.Pro303_Val304insSerPro) c.1867_1872dup (p.Pro624_Val625insSerPro) c.697_702dup n.536_541dup c.3001_3006dup (p.Pro1002_Val1003insSerPro) c.2992_2997dup (p.Pro999_Val1000insSerPro) c.3019_3024dup (p.Pro1008_Val1009insSerPro) c.3016_3021dup (p.Pro1007_Val1008insSerPro) c.2998_3003dup (p.Pro1001_Val1002insSerPro) c.2941_2946dup (p.Pro982_Val983insSerPro) c.2875_2880dup (p.Pro960_Val961insSerPro) c.1441_1446dup (p.Pro482_Val483insSerPro) c.793_798dup (p.Pro266_Val267insSerPro) c.580_585dup (p.Pro195_Val196insSerPro) c.2854_2859dup (p.Pro953_Val954insSerPro) c.2989_2994dup (p.Pro998_Val999insSerPro) c.2995_3000dup (p.Pro1000_Val1001insSerPro) c.2911_2916dup (p.Pro972_Val973insSerPro) c.2839_2844dup (p.Pro948_Val949insSerPro) c.2773_2778dup (p.Pro926_Val927insSerPro) c.2134_2139dup (p.Pro713_Val714insSerPro) c.2752_2757dup (p.Pro919_Val920insSerPro) | gnomAD v4 |
| 9 | g.137813146C>A | CA375793692 | EHMT1 | c.3008C>A (p.Pro1003His) c.2894C>A (p.Pro965His) c.2915C>A (p.Pro972His) c.3048C>A (n.3048C>A) c.902C>A (p.Pro301His) c.1865C>A (p.Pro622His) c.695C>A n.534C>A c.2999C>A (p.Pro1000His) c.2990C>A (p.Pro997His) c.3017C>A (p.Pro1006His) c.3014C>A (p.Pro1005His) c.2996C>A (p.Pro999His) c.2939C>A (p.Pro980His) c.2873C>A (p.Pro958His) c.1439C>A (p.Pro480His) c.791C>A (p.Pro264His) c.578C>A (p.Pro193His) c.2852C>A (p.Pro951His) c.2987C>A (p.Pro996His) c.2993C>A (p.Pro998His) c.2909C>A (p.Pro970His) c.2837C>A (p.Pro946His) c.2771C>A (p.Pro924His) c.2132C>A (p.Pro711His) c.2750C>A (p.Pro917His) | |
| 9 | g.137813146C>G | CA375793690 | EHMT1 | c.3008C>G (p.Pro1003Arg) c.2894C>G (p.Pro965Arg) c.2915C>G (p.Pro972Arg) c.3048C>G (n.3048C>G) c.902C>G (p.Pro301Arg) c.1865C>G (p.Pro622Arg) c.695C>G n.534C>G c.2999C>G (p.Pro1000Arg) c.2990C>G (p.Pro997Arg) c.3017C>G (p.Pro1006Arg) c.3014C>G (p.Pro1005Arg) c.2996C>G (p.Pro999Arg) c.2939C>G (p.Pro980Arg) c.2873C>G (p.Pro958Arg) c.1439C>G (p.Pro480Arg) c.791C>G (p.Pro264Arg) c.578C>G (p.Pro193Arg) c.2852C>G (p.Pro951Arg) c.2987C>G (p.Pro996Arg) c.2993C>G (p.Pro998Arg) c.2909C>G (p.Pro970Arg) c.2837C>G (p.Pro946Arg) c.2771C>G (p.Pro924Arg) c.2132C>G (p.Pro711Arg) c.2750C>G (p.Pro917Arg) | |
| 9 | g.137813146C>T | CA375793691 | EHMT1 | c.3008C>T (p.Pro1003Leu) c.2894C>T (p.Pro965Leu) c.2915C>T (p.Pro972Leu) c.3048C>T (n.3048C>T) c.902C>T (p.Pro301Leu) c.1865C>T (p.Pro622Leu) c.695C>T n.534C>T c.2999C>T (p.Pro1000Leu) c.2990C>T (p.Pro997Leu) c.3017C>T (p.Pro1006Leu) c.3014C>T (p.Pro1005Leu) c.2996C>T (p.Pro999Leu) c.2939C>T (p.Pro980Leu) c.2873C>T (p.Pro958Leu) c.1439C>T (p.Pro480Leu) c.791C>T (p.Pro264Leu) c.578C>T (p.Pro193Leu) c.2852C>T (p.Pro951Leu) c.2987C>T (p.Pro996Leu) c.2993C>T (p.Pro998Leu) c.2909C>T (p.Pro970Leu) c.2837C>T (p.Pro946Leu) c.2771C>T (p.Pro924Leu) c.2132C>T (p.Pro711Leu) c.2750C>T (p.Pro917Leu) | |
| 9 | g.137813147C>A | CA468161097 | EHMT1 | c.3009C>A (p.Pro1003=) c.2895C>A (p.Pro965=) c.2916C>A (p.Pro972=) c.3049C>A (n.3049C>A) c.903C>A (p.Pro301=) c.1866C>A (p.Pro622=) c.696C>A n.535C>A c.3000C>A (p.Pro1000=) c.2991C>A (p.Pro997=) c.3018C>A (p.Pro1006=) c.3015C>A (p.Pro1005=) c.2997C>A (p.Pro999=) c.2940C>A (p.Pro980=) c.2874C>A (p.Pro958=) c.1440C>A (p.Pro480=) c.792C>A (p.Pro264=) c.579C>A (p.Pro193=) c.2853C>A (p.Pro951=) c.2988C>A (p.Pro996=) c.2994C>A (p.Pro998=) c.2910C>A (p.Pro970=) c.2838C>A (p.Pro946=) c.2772C>A (p.Pro924=) c.2133C>A (p.Pro711=) c.2751C>A (p.Pro917=) | |
| 9 | g.137813147C>G | CA468161098 | EHMT1 | c.3009C>G (p.Pro1003=) c.2895C>G (p.Pro965=) c.2916C>G (p.Pro972=) c.3049C>G (n.3049C>G) c.903C>G (p.Pro301=) c.1866C>G (p.Pro622=) c.696C>G n.535C>G c.3000C>G (p.Pro1000=) c.2991C>G (p.Pro997=) c.3018C>G (p.Pro1006=) c.3015C>G (p.Pro1005=) c.2997C>G (p.Pro999=) c.2940C>G (p.Pro980=) c.2874C>G (p.Pro958=) c.1440C>G (p.Pro480=) c.792C>G (p.Pro264=) c.579C>G (p.Pro193=) c.2853C>G (p.Pro951=) c.2988C>G (p.Pro996=) c.2994C>G (p.Pro998=) c.2910C>G (p.Pro970=) c.2838C>G (p.Pro946=) c.2772C>G (p.Pro924=) c.2133C>G (p.Pro711=) c.2751C>G (p.Pro917=) | |
| 9 | g.137813147C>T | CA468161099 | EHMT1 | c.3009C>T (p.Pro1003=) c.2895C>T (p.Pro965=) c.2916C>T (p.Pro972=) c.3049C>T (n.3049C>T) c.903C>T (p.Pro301=) c.1866C>T (p.Pro622=) c.696C>T n.535C>T c.3000C>T (p.Pro1000=) c.2991C>T (p.Pro997=) c.3018C>T (p.Pro1006=) c.3015C>T (p.Pro1005=) c.2997C>T (p.Pro999=) c.2940C>T (p.Pro980=) c.2874C>T (p.Pro958=) c.1440C>T (p.Pro480=) c.792C>T (p.Pro264=) c.579C>T (p.Pro193=) c.2853C>T (p.Pro951=) c.2988C>T (p.Pro996=) c.2994C>T (p.Pro998=) c.2910C>T (p.Pro970=) c.2838C>T (p.Pro946=) c.2772C>T (p.Pro924=) c.2133C>T (p.Pro711=) c.2751C>T (p.Pro917=) | |
| 9 | g.137813148A>C | CA375793693 | EHMT1 | c.3010A>C (p.Ser1004Arg) c.2896A>C (p.Ser966Arg) c.2917A>C (p.Ser973Arg) c.3050A>C (n.3050A>C) c.904A>C (p.Ser302Arg) c.1867A>C (p.Ser623Arg) c.697A>C n.536A>C c.3001A>C (p.Ser1001Arg) c.2992A>C (p.Ser998Arg) c.3019A>C (p.Ser1007Arg) c.3016A>C (p.Ser1006Arg) c.2998A>C (p.Ser1000Arg) c.2941A>C (p.Ser981Arg) c.2875A>C (p.Ser959Arg) c.1441A>C (p.Ser481Arg) c.793A>C (p.Ser265Arg) c.580A>C (p.Ser194Arg) c.2854A>C (p.Ser952Arg) c.2989A>C (p.Ser997Arg) c.2995A>C (p.Ser999Arg) c.2911A>C (p.Ser971Arg) c.2839A>C (p.Ser947Arg) c.2773A>C (p.Ser925Arg) c.2134A>C (p.Ser712Arg) c.2752A>C (p.Ser918Arg) | |
| 9 | g.137813148A>G | CA375793694 | EHMT1 | c.3010A>G (p.Ser1004Gly) c.2896A>G (p.Ser966Gly) c.2917A>G (p.Ser973Gly) c.3050A>G (n.3050A>G) c.904A>G (p.Ser302Gly) c.1867A>G (p.Ser623Gly) c.697A>G n.536A>G c.3001A>G (p.Ser1001Gly) c.2992A>G (p.Ser998Gly) c.3019A>G (p.Ser1007Gly) c.3016A>G (p.Ser1006Gly) c.2998A>G (p.Ser1000Gly) c.2941A>G (p.Ser981Gly) c.2875A>G (p.Ser959Gly) c.1441A>G (p.Ser481Gly) c.793A>G (p.Ser265Gly) c.580A>G (p.Ser194Gly) c.2854A>G (p.Ser952Gly) c.2989A>G (p.Ser997Gly) c.2995A>G (p.Ser999Gly) c.2911A>G (p.Ser971Gly) c.2839A>G (p.Ser947Gly) c.2773A>G (p.Ser925Gly) c.2134A>G (p.Ser712Gly) c.2752A>G (p.Ser918Gly) | |
| 9 | g.137813148A>T | CA375793695 | EHMT1 | c.3010A>T (p.Ser1004Cys) c.2896A>T (p.Ser966Cys) c.2917A>T (p.Ser973Cys) c.3050A>T (n.3050A>T) c.904A>T (p.Ser302Cys) c.1867A>T (p.Ser623Cys) c.697A>T n.536A>T c.3001A>T (p.Ser1001Cys) c.2992A>T (p.Ser998Cys) c.3019A>T (p.Ser1007Cys) c.3016A>T (p.Ser1006Cys) c.2998A>T (p.Ser1000Cys) c.2941A>T (p.Ser981Cys) c.2875A>T (p.Ser959Cys) c.1441A>T (p.Ser481Cys) c.793A>T (p.Ser265Cys) c.580A>T (p.Ser194Cys) c.2854A>T (p.Ser952Cys) c.2989A>T (p.Ser997Cys) c.2995A>T (p.Ser999Cys) c.2911A>T (p.Ser971Cys) c.2839A>T (p.Ser947Cys) c.2773A>T (p.Ser925Cys) c.2134A>T (p.Ser712Cys) c.2752A>T (p.Ser918Cys) | |
| 9 | g.137813149G>A | CA201812 | EHMT1 | c.3011G>A (p.Ser1004Asn) c.2897G>A (p.Ser966Asn) c.2918G>A (p.Ser973Asn) c.3051G>A (n.3051G>A) c.905G>A (p.Ser302Asn) c.1868G>A (p.Ser623Asn) c.698G>A n.537G>A c.3002G>A (p.Ser1001Asn) c.2993G>A (p.Ser998Asn) c.3020G>A (p.Ser1007Asn) c.3017G>A (p.Ser1006Asn) c.2999G>A (p.Ser1000Asn) c.2942G>A (p.Ser981Asn) c.2876G>A (p.Ser959Asn) c.1442G>A (p.Ser481Asn) c.794G>A (p.Ser265Asn) c.581G>A (p.Ser194Asn) c.2855G>A (p.Ser952Asn) c.2990G>A (p.Ser997Asn) c.2996G>A (p.Ser999Asn) c.2912G>A (p.Ser971Asn) c.2840G>A (p.Ser947Asn) c.2774G>A (p.Ser925Asn) c.2135G>A (p.Ser712Asn) c.2753G>A (p.Ser918Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813149G>C | CA375793696 | EHMT1 | c.3011G>C (p.Ser1004Thr) c.2897G>C (p.Ser966Thr) c.2918G>C (p.Ser973Thr) c.3051G>C (n.3051G>C) c.905G>C (p.Ser302Thr) c.1868G>C (p.Ser623Thr) c.698G>C n.537G>C c.3002G>C (p.Ser1001Thr) c.2993G>C (p.Ser998Thr) c.3020G>C (p.Ser1007Thr) c.3017G>C (p.Ser1006Thr) c.2999G>C (p.Ser1000Thr) c.2942G>C (p.Ser981Thr) c.2876G>C (p.Ser959Thr) c.1442G>C (p.Ser481Thr) c.794G>C (p.Ser265Thr) c.581G>C (p.Ser194Thr) c.2855G>C (p.Ser952Thr) c.2990G>C (p.Ser997Thr) c.2996G>C (p.Ser999Thr) c.2912G>C (p.Ser971Thr) c.2840G>C (p.Ser947Thr) c.2774G>C (p.Ser925Thr) c.2135G>C (p.Ser712Thr) c.2753G>C (p.Ser918Thr) | |
| 9 | g.137813149G= | CA1884685728 | EHMT1 | c.3011G= (p.Ser1004=) c.2897G= (p.Ser966=) c.2918G= (p.Ser973=) c.3051G= (n.3051G=) c.905G= (p.Ser302=) c.1868G= (p.Ser623=) c.698G= n.537G= c.3002G= (p.Ser1001=) c.2993G= (p.Ser998=) c.3020G= (p.Ser1007=) c.3017G= (p.Ser1006=) c.2999G= (p.Ser1000=) c.2942G= (p.Ser981=) c.2876G= (p.Ser959=) c.1442G= (p.Ser481=) c.794G= (p.Ser265=) c.581G= (p.Ser194=) c.2855G= (p.Ser952=) c.2990G= (p.Ser997=) c.2996G= (p.Ser999=) c.2912G= (p.Ser971=) c.2840G= (p.Ser947=) c.2774G= (p.Ser925=) c.2135G= (p.Ser712=) c.2753G= (p.Ser918=) | |
| 9 | g.137813149G>T | CA5375125 | EHMT1 | c.3011G>T (p.Ser1004Ile) c.2897G>T (p.Ser966Ile) c.2918G>T (p.Ser973Ile) c.3051G>T (n.3051G>T) c.905G>T (p.Ser302Ile) c.1868G>T (p.Ser623Ile) c.698G>T n.537G>T c.3002G>T (p.Ser1001Ile) c.2993G>T (p.Ser998Ile) c.3020G>T (p.Ser1007Ile) c.3017G>T (p.Ser1006Ile) c.2999G>T (p.Ser1000Ile) c.2942G>T (p.Ser981Ile) c.2876G>T (p.Ser959Ile) c.1442G>T (p.Ser481Ile) c.794G>T (p.Ser265Ile) c.581G>T (p.Ser194Ile) c.2855G>T (p.Ser952Ile) c.2990G>T (p.Ser997Ile) c.2996G>T (p.Ser999Ile) c.2912G>T (p.Ser971Ile) c.2840G>T (p.Ser947Ile) c.2774G>T (p.Ser925Ile) c.2135G>T (p.Ser712Ile) c.2753G>T (p.Ser918Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813150_137813154del | CA2499219815 | EHMT1 | c.3012_3016del (p.Pro1005GlyfsTer?) c.2898_2902del (p.Pro967GlyfsTer?) c.2919_2923del (p.Pro974GlyfsTer?) c.3052_3056del (n.3052_3056del) c.906_910del (p.Pro303GlyfsTer?) c.1869_1873del (p.Pro624GlyfsTer?) c.699_703del n.538_542del c.3003_3007del (p.Pro1002GlyfsTer?) c.2994_2998del (p.Pro999GlyfsTer?) c.3021_3025del (p.Pro1008GlyfsTer?) c.3018_3022del (p.Pro1007GlyfsTer?) c.3000_3004del (p.Pro1001GlyfsTer?) c.2943_2947del (p.Pro982GlyfsTer?) c.2877_2881del (p.Pro960GlyfsTer?) c.1443_1447del (p.Pro482GlyfsTer?) c.795_799del (p.Pro266GlyfsTer?) c.582_586del (p.Pro195GlyfsTer?) c.2856_2860del (p.Pro953GlyfsTer?) c.2991_2995del (p.Pro998GlyfsTer?) c.2997_3001del (p.Pro1000GlyfsTer?) c.2913_2917del (p.Pro972GlyfsTer?) c.2841_2845del (p.Pro948GlyfsTer?) c.2775_2779del (p.Pro926GlyfsTer?) c.2136_2140del (p.Pro713GlyfsTer?) c.2754_2758del (p.Pro919GlyfsTer?) | ClinVar dbSNP |
| 9 | g.137813150C>A | CA375793697 | EHMT1 | c.3012C>A (p.Ser1004Arg) c.2898C>A (p.Ser966Arg) c.2919C>A (p.Ser973Arg) c.3052C>A (n.3052C>A) c.906C>A (p.Ser302Arg) c.1869C>A (p.Ser623Arg) c.699C>A n.538C>A c.3003C>A (p.Ser1001Arg) c.2994C>A (p.Ser998Arg) c.3021C>A (p.Ser1007Arg) c.3018C>A (p.Ser1006Arg) c.3000C>A (p.Ser1000Arg) c.2943C>A (p.Ser981Arg) c.2877C>A (p.Ser959Arg) c.1443C>A (p.Ser481Arg) c.795C>A (p.Ser265Arg) c.582C>A (p.Ser194Arg) c.2856C>A (p.Ser952Arg) c.2991C>A (p.Ser997Arg) c.2997C>A (p.Ser999Arg) c.2913C>A (p.Ser971Arg) c.2841C>A (p.Ser947Arg) c.2775C>A (p.Ser925Arg) c.2136C>A (p.Ser712Arg) c.2754C>A (p.Ser918Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137813150C= | CA1884685729 | EHMT1 | c.3012C= (p.Ser1004=) c.2898C= (p.Ser966=) c.2919C= (p.Ser973=) c.3052C= (n.3052C=) c.906C= (p.Ser302=) c.1869C= (p.Ser623=) c.699C= n.538C= c.3003C= (p.Ser1001=) c.2994C= (p.Ser998=) c.3021C= (p.Ser1007=) c.3018C= (p.Ser1006=) c.3000C= (p.Ser1000=) c.2943C= (p.Ser981=) c.2877C= (p.Ser959=) c.1443C= (p.Ser481=) c.795C= (p.Ser265=) c.582C= (p.Ser194=) c.2856C= (p.Ser952=) c.2991C= (p.Ser997=) c.2997C= (p.Ser999=) c.2913C= (p.Ser971=) c.2841C= (p.Ser947=) c.2775C= (p.Ser925=) c.2136C= (p.Ser712=) c.2754C= (p.Ser918=) | |
| 9 | g.137813150C>G | CA375793698 | EHMT1 | c.3012C>G (p.Ser1004Arg) c.2898C>G (p.Ser966Arg) c.2919C>G (p.Ser973Arg) c.3052C>G (n.3052C>G) c.906C>G (p.Ser302Arg) c.1869C>G (p.Ser623Arg) c.699C>G n.538C>G c.3003C>G (p.Ser1001Arg) c.2994C>G (p.Ser998Arg) c.3021C>G (p.Ser1007Arg) c.3018C>G (p.Ser1006Arg) c.3000C>G (p.Ser1000Arg) c.2943C>G (p.Ser981Arg) c.2877C>G (p.Ser959Arg) c.1443C>G (p.Ser481Arg) c.795C>G (p.Ser265Arg) c.582C>G (p.Ser194Arg) c.2856C>G (p.Ser952Arg) c.2991C>G (p.Ser997Arg) c.2997C>G (p.Ser999Arg) c.2913C>G (p.Ser971Arg) c.2841C>G (p.Ser947Arg) c.2775C>G (p.Ser925Arg) c.2136C>G (p.Ser712Arg) c.2754C>G (p.Ser918Arg) | |
| 9 | g.137813150C>T | CA468161100 | EHMT1 | c.3012C>T (p.Ser1004=) c.2898C>T (p.Ser966=) c.2919C>T (p.Ser973=) c.3052C>T (n.3052C>T) c.906C>T (p.Ser302=) c.1869C>T (p.Ser623=) c.699C>T n.538C>T c.3003C>T (p.Ser1001=) c.2994C>T (p.Ser998=) c.3021C>T (p.Ser1007=) c.3018C>T (p.Ser1006=) c.3000C>T (p.Ser1000=) c.2943C>T (p.Ser981=) c.2877C>T (p.Ser959=) c.1443C>T (p.Ser481=) c.795C>T (p.Ser265=) c.582C>T (p.Ser194=) c.2856C>T (p.Ser952=) c.2991C>T (p.Ser997=) c.2997C>T (p.Ser999=) c.2913C>T (p.Ser971=) c.2841C>T (p.Ser947=) c.2775C>T (p.Ser925=) c.2136C>T (p.Ser712=) c.2754C>T (p.Ser918=) | |
| 9 | g.137813151C>A | CA375793699 | EHMT1 | c.3013C>A (p.Pro1005Thr) c.2899C>A (p.Pro967Thr) c.2920C>A (p.Pro974Thr) c.3053C>A (n.3053C>A) c.907C>A (p.Pro303Thr) c.1870C>A (p.Pro624Thr) c.700C>A n.539C>A c.3004C>A (p.Pro1002Thr) c.2995C>A (p.Pro999Thr) c.3022C>A (p.Pro1008Thr) c.3019C>A (p.Pro1007Thr) c.3001C>A (p.Pro1001Thr) c.2944C>A (p.Pro982Thr) c.2878C>A (p.Pro960Thr) c.1444C>A (p.Pro482Thr) c.796C>A (p.Pro266Thr) c.583C>A (p.Pro195Thr) c.2857C>A (p.Pro953Thr) c.2992C>A (p.Pro998Thr) c.2998C>A (p.Pro1000Thr) c.2914C>A (p.Pro972Thr) c.2842C>A (p.Pro948Thr) c.2776C>A (p.Pro926Thr) c.2137C>A (p.Pro713Thr) c.2755C>A (p.Pro919Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137813151C= | CA1884685730 | EHMT1 | c.3013C= (p.Pro1005=) c.2899C= (p.Pro967=) c.2920C= (p.Pro974=) c.3053C= (n.3053C=) c.907C= (p.Pro303=) c.1870C= (p.Pro624=) c.700C= n.539C= c.3004C= (p.Pro1002=) c.2995C= (p.Pro999=) c.3022C= (p.Pro1008=) c.3019C= (p.Pro1007=) c.3001C= (p.Pro1001=) c.2944C= (p.Pro982=) c.2878C= (p.Pro960=) c.1444C= (p.Pro482=) c.796C= (p.Pro266=) c.583C= (p.Pro195=) c.2857C= (p.Pro953=) c.2992C= (p.Pro998=) c.2998C= (p.Pro1000=) c.2914C= (p.Pro972=) c.2842C= (p.Pro948=) c.2776C= (p.Pro926=) c.2137C= (p.Pro713=) c.2755C= (p.Pro919=) | |
| 9 | g.137813151C>G | CA375793701 | EHMT1 | c.3013C>G (p.Pro1005Ala) c.2899C>G (p.Pro967Ala) c.2920C>G (p.Pro974Ala) c.3053C>G (n.3053C>G) c.907C>G (p.Pro303Ala) c.1870C>G (p.Pro624Ala) c.700C>G n.539C>G c.3004C>G (p.Pro1002Ala) c.2995C>G (p.Pro999Ala) c.3022C>G (p.Pro1008Ala) c.3019C>G (p.Pro1007Ala) c.3001C>G (p.Pro1001Ala) c.2944C>G (p.Pro982Ala) c.2878C>G (p.Pro960Ala) c.1444C>G (p.Pro482Ala) c.796C>G (p.Pro266Ala) c.583C>G (p.Pro195Ala) c.2857C>G (p.Pro953Ala) c.2992C>G (p.Pro998Ala) c.2998C>G (p.Pro1000Ala) c.2914C>G (p.Pro972Ala) c.2842C>G (p.Pro948Ala) c.2776C>G (p.Pro926Ala) c.2137C>G (p.Pro713Ala) c.2755C>G (p.Pro919Ala) | |
| 9 | g.137813151C>T | CA375793700 | EHMT1 | c.3013C>T (p.Pro1005Ser) c.2899C>T (p.Pro967Ser) c.2920C>T (p.Pro974Ser) c.3053C>T (n.3053C>T) c.907C>T (p.Pro303Ser) c.1870C>T (p.Pro624Ser) c.700C>T n.539C>T c.3004C>T (p.Pro1002Ser) c.2995C>T (p.Pro999Ser) c.3022C>T (p.Pro1008Ser) c.3019C>T (p.Pro1007Ser) c.3001C>T (p.Pro1001Ser) c.2944C>T (p.Pro982Ser) c.2878C>T (p.Pro960Ser) c.1444C>T (p.Pro482Ser) c.796C>T (p.Pro266Ser) c.583C>T (p.Pro195Ser) c.2857C>T (p.Pro953Ser) c.2992C>T (p.Pro998Ser) c.2998C>T (p.Pro1000Ser) c.2914C>T (p.Pro972Ser) c.2842C>T (p.Pro948Ser) c.2776C>T (p.Pro926Ser) c.2137C>T (p.Pro713Ser) c.2755C>T (p.Pro919Ser) | |
| 9 | g.137813152C>A | CA375793702 | EHMT1 | c.3014C>A (p.Pro1005His) c.2900C>A (p.Pro967His) c.2921C>A (p.Pro974His) c.3054C>A (n.3054C>A) c.908C>A (p.Pro303His) c.1871C>A (p.Pro624His) c.701C>A n.540C>A c.3005C>A (p.Pro1002His) c.2996C>A (p.Pro999His) c.3023C>A (p.Pro1008His) c.3020C>A (p.Pro1007His) c.3002C>A (p.Pro1001His) c.2945C>A (p.Pro982His) c.2879C>A (p.Pro960His) c.1445C>A (p.Pro482His) c.797C>A (p.Pro266His) c.584C>A (p.Pro195His) c.2858C>A (p.Pro953His) c.2993C>A (p.Pro998His) c.2999C>A (p.Pro1000His) c.2915C>A (p.Pro972His) c.2843C>A (p.Pro948His) c.2777C>A (p.Pro926His) c.2138C>A (p.Pro713His) c.2756C>A (p.Pro919His) | |
| 9 | g.137813152C= | CA1884685731 | EHMT1 | c.3014C= (p.Pro1005=) c.2900C= (p.Pro967=) c.2921C= (p.Pro974=) c.3054C= (n.3054C=) c.908C= (p.Pro303=) c.1871C= (p.Pro624=) c.701C= n.540C= c.3005C= (p.Pro1002=) c.2996C= (p.Pro999=) c.3023C= (p.Pro1008=) c.3020C= (p.Pro1007=) c.3002C= (p.Pro1001=) c.2945C= (p.Pro982=) c.2879C= (p.Pro960=) c.1445C= (p.Pro482=) c.797C= (p.Pro266=) c.584C= (p.Pro195=) c.2858C= (p.Pro953=) c.2993C= (p.Pro998=) c.2999C= (p.Pro1000=) c.2915C= (p.Pro972=) c.2843C= (p.Pro948=) c.2777C= (p.Pro926=) c.2138C= (p.Pro713=) c.2756C= (p.Pro919=) | |
| 9 | g.137813152C>G | CA375793703 | EHMT1 | c.3014C>G (p.Pro1005Arg) c.2900C>G (p.Pro967Arg) c.2921C>G (p.Pro974Arg) c.3054C>G (n.3054C>G) c.908C>G (p.Pro303Arg) c.1871C>G (p.Pro624Arg) c.701C>G n.540C>G c.3005C>G (p.Pro1002Arg) c.2996C>G (p.Pro999Arg) c.3023C>G (p.Pro1008Arg) c.3020C>G (p.Pro1007Arg) c.3002C>G (p.Pro1001Arg) c.2945C>G (p.Pro982Arg) c.2879C>G (p.Pro960Arg) c.1445C>G (p.Pro482Arg) c.797C>G (p.Pro266Arg) c.584C>G (p.Pro195Arg) c.2858C>G (p.Pro953Arg) c.2993C>G (p.Pro998Arg) c.2999C>G (p.Pro1000Arg) c.2915C>G (p.Pro972Arg) c.2843C>G (p.Pro948Arg) c.2777C>G (p.Pro926Arg) c.2138C>G (p.Pro713Arg) c.2756C>G (p.Pro919Arg) | |
| 9 | g.137813152C>T | CA375793704 | EHMT1 | c.3014C>T (p.Pro1005Leu) c.2900C>T (p.Pro967Leu) c.2921C>T (p.Pro974Leu) c.3054C>T (n.3054C>T) c.908C>T (p.Pro303Leu) c.1871C>T (p.Pro624Leu) c.701C>T n.540C>T c.3005C>T (p.Pro1002Leu) c.2996C>T (p.Pro999Leu) c.3023C>T (p.Pro1008Leu) c.3020C>T (p.Pro1007Leu) c.3002C>T (p.Pro1001Leu) c.2945C>T (p.Pro982Leu) c.2879C>T (p.Pro960Leu) c.1445C>T (p.Pro482Leu) c.797C>T (p.Pro266Leu) c.584C>T (p.Pro195Leu) c.2858C>T (p.Pro953Leu) c.2993C>T (p.Pro998Leu) c.2999C>T (p.Pro1000Leu) c.2915C>T (p.Pro972Leu) c.2843C>T (p.Pro948Leu) c.2777C>T (p.Pro926Leu) c.2138C>T (p.Pro713Leu) c.2756C>T (p.Pro919Leu) | dbSNP COSMIC COSMIC |
| 9 | g.137813153C>A | CA468161101 | EHMT1 | c.3015C>A (p.Pro1005=) c.2901C>A (p.Pro967=) c.2922C>A (p.Pro974=) c.3055C>A (n.3055C>A) c.909C>A (p.Pro303=) c.1872C>A (p.Pro624=) c.702C>A n.541C>A c.3006C>A (p.Pro1002=) c.2997C>A (p.Pro999=) c.3024C>A (p.Pro1008=) c.3021C>A (p.Pro1007=) c.3003C>A (p.Pro1001=) c.2946C>A (p.Pro982=) c.2880C>A (p.Pro960=) c.1446C>A (p.Pro482=) c.798C>A (p.Pro266=) c.585C>A (p.Pro195=) c.2859C>A (p.Pro953=) c.2994C>A (p.Pro998=) c.3000C>A (p.Pro1000=) c.2916C>A (p.Pro972=) c.2844C>A (p.Pro948=) c.2778C>A (p.Pro926=) c.2139C>A (p.Pro713=) c.2757C>A (p.Pro919=) | |
| 9 | g.137813153C= | CA1884685732 | EHMT1 | c.3015C= (p.Pro1005=) c.2901C= (p.Pro967=) c.2922C= (p.Pro974=) c.3055C= (n.3055C=) c.909C= (p.Pro303=) c.1872C= (p.Pro624=) c.702C= n.541C= c.3006C= (p.Pro1002=) c.2997C= (p.Pro999=) c.3024C= (p.Pro1008=) c.3021C= (p.Pro1007=) c.3003C= (p.Pro1001=) c.2946C= (p.Pro982=) c.2880C= (p.Pro960=) c.1446C= (p.Pro482=) c.798C= (p.Pro266=) c.585C= (p.Pro195=) c.2859C= (p.Pro953=) c.2994C= (p.Pro998=) c.3000C= (p.Pro1000=) c.2916C= (p.Pro972=) c.2844C= (p.Pro948=) c.2778C= (p.Pro926=) c.2139C= (p.Pro713=) c.2757C= (p.Pro919=) | |
| 9 | g.137813153C>G | CA5375126 | EHMT1 | c.3015C>G (p.Pro1005=) c.2901C>G (p.Pro967=) c.2922C>G (p.Pro974=) c.3055C>G (n.3055C>G) c.909C>G (p.Pro303=) c.1872C>G (p.Pro624=) c.702C>G n.541C>G c.3006C>G (p.Pro1002=) c.2997C>G (p.Pro999=) c.3024C>G (p.Pro1008=) c.3021C>G (p.Pro1007=) c.3003C>G (p.Pro1001=) c.2946C>G (p.Pro982=) c.2880C>G (p.Pro960=) c.1446C>G (p.Pro482=) c.798C>G (p.Pro266=) c.585C>G (p.Pro195=) c.2859C>G (p.Pro953=) c.2994C>G (p.Pro998=) c.3000C>G (p.Pro1000=) c.2916C>G (p.Pro972=) c.2844C>G (p.Pro948=) c.2778C>G (p.Pro926=) c.2139C>G (p.Pro713=) c.2757C>G (p.Pro919=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813153C>T | CA241985 | EHMT1 | c.3015C>T (p.Pro1005=) c.2901C>T (p.Pro967=) c.2922C>T (p.Pro974=) c.3055C>T (n.3055C>T) c.909C>T (p.Pro303=) c.1872C>T (p.Pro624=) c.702C>T n.541C>T c.3006C>T (p.Pro1002=) c.2997C>T (p.Pro999=) c.3024C>T (p.Pro1008=) c.3021C>T (p.Pro1007=) c.3003C>T (p.Pro1001=) c.2946C>T (p.Pro982=) c.2880C>T (p.Pro960=) c.1446C>T (p.Pro482=) c.798C>T (p.Pro266=) c.585C>T (p.Pro195=) c.2859C>T (p.Pro953=) c.2994C>T (p.Pro998=) c.3000C>T (p.Pro1000=) c.2916C>T (p.Pro972=) c.2844C>T (p.Pro948=) c.2778C>T (p.Pro926=) c.2139C>T (p.Pro713=) c.2757C>T (p.Pro919=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813154G>A | CA149297 | EHMT1 | c.3016G>A (p.Val1006Met) c.2902G>A (p.Val968Met) c.2923G>A (p.Val975Met) c.3056G>A (n.3056G>A) c.910G>A (p.Val304Met) c.1873G>A (p.Val625Met) c.703G>A n.542G>A c.3007G>A (p.Val1003Met) c.2998G>A (p.Val1000Met) c.3025G>A (p.Val1009Met) c.3022G>A (p.Val1008Met) c.3004G>A (p.Val1002Met) c.2947G>A (p.Val983Met) c.2881G>A (p.Val961Met) c.1447G>A (p.Val483Met) c.799G>A (p.Val267Met) c.586G>A (p.Val196Met) c.2860G>A (p.Val954Met) c.2995G>A (p.Val999Met) c.3001G>A (p.Val1001Met) c.2917G>A (p.Val973Met) c.2845G>A (p.Val949Met) c.2779G>A (p.Val927Met) c.2140G>A (p.Val714Met) c.2758G>A (p.Val920Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813154G>C | CA5375127 | EHMT1 | c.3016G>C (p.Val1006Leu) c.2902G>C (p.Val968Leu) c.2923G>C (p.Val975Leu) c.3056G>C (n.3056G>C) c.910G>C (p.Val304Leu) c.1873G>C (p.Val625Leu) c.703G>C n.542G>C c.3007G>C (p.Val1003Leu) c.2998G>C (p.Val1000Leu) c.3025G>C (p.Val1009Leu) c.3022G>C (p.Val1008Leu) c.3004G>C (p.Val1002Leu) c.2947G>C (p.Val983Leu) c.2881G>C (p.Val961Leu) c.1447G>C (p.Val483Leu) c.799G>C (p.Val267Leu) c.586G>C (p.Val196Leu) c.2860G>C (p.Val954Leu) c.2995G>C (p.Val999Leu) c.3001G>C (p.Val1001Leu) c.2917G>C (p.Val973Leu) c.2845G>C (p.Val949Leu) c.2779G>C (p.Val927Leu) c.2140G>C (p.Val714Leu) c.2758G>C (p.Val920Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813154G= | CA1884685733 | EHMT1 | c.3016G= (p.Val1006=) c.2902G= (p.Val968=) c.2923G= (p.Val975=) c.3056G= (n.3056G=) c.910G= (p.Val304=) c.1873G= (p.Val625=) c.703G= n.542G= c.3007G= (p.Val1003=) c.2998G= (p.Val1000=) c.3025G= (p.Val1009=) c.3022G= (p.Val1008=) c.3004G= (p.Val1002=) c.2947G= (p.Val983=) c.2881G= (p.Val961=) c.1447G= (p.Val483=) c.799G= (p.Val267=) c.586G= (p.Val196=) c.2860G= (p.Val954=) c.2995G= (p.Val999=) c.3001G= (p.Val1001=) c.2917G= (p.Val973=) c.2845G= (p.Val949=) c.2779G= (p.Val927=) c.2140G= (p.Val714=) c.2758G= (p.Val920=) | |
| 9 | g.137813154G>T | CA375793705 | EHMT1 | c.3016G>T (p.Val1006Leu) c.2902G>T (p.Val968Leu) c.2923G>T (p.Val975Leu) c.3056G>T (n.3056G>T) c.910G>T (p.Val304Leu) c.1873G>T (p.Val625Leu) c.703G>T n.542G>T c.3007G>T (p.Val1003Leu) c.2998G>T (p.Val1000Leu) c.3025G>T (p.Val1009Leu) c.3022G>T (p.Val1008Leu) c.3004G>T (p.Val1002Leu) c.2947G>T (p.Val983Leu) c.2881G>T (p.Val961Leu) c.1447G>T (p.Val483Leu) c.799G>T (p.Val267Leu) c.586G>T (p.Val196Leu) c.2860G>T (p.Val954Leu) c.2995G>T (p.Val999Leu) c.3001G>T (p.Val1001Leu) c.2917G>T (p.Val973Leu) c.2845G>T (p.Val949Leu) c.2779G>T (p.Val927Leu) c.2140G>T (p.Val714Leu) c.2758G>T (p.Val920Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813155T>A | CA375793706 | EHMT1 | c.3017T>A (p.Val1006Glu) c.2903T>A (p.Val968Glu) c.2924T>A (p.Val975Glu) c.3057T>A (n.3057T>A) c.911T>A (p.Val304Glu) c.1874T>A (p.Val625Glu) c.704T>A n.543T>A c.3008T>A (p.Val1003Glu) c.2999T>A (p.Val1000Glu) c.3026T>A (p.Val1009Glu) c.3023T>A (p.Val1008Glu) c.3005T>A (p.Val1002Glu) c.2948T>A (p.Val983Glu) c.2882T>A (p.Val961Glu) c.1448T>A (p.Val483Glu) c.800T>A (p.Val267Glu) c.587T>A (p.Val196Glu) c.2861T>A (p.Val954Glu) c.2996T>A (p.Val999Glu) c.3002T>A (p.Val1001Glu) c.2918T>A (p.Val973Glu) c.2846T>A (p.Val949Glu) c.2780T>A (p.Val927Glu) c.2141T>A (p.Val714Glu) c.2759T>A (p.Val920Glu) | |
| 9 | g.137813155T>C | CA375793707 | EHMT1 | c.3017T>C (p.Val1006Ala) c.2903T>C (p.Val968Ala) c.2924T>C (p.Val975Ala) c.3057T>C (n.3057T>C) c.911T>C (p.Val304Ala) c.1874T>C (p.Val625Ala) c.704T>C n.543T>C c.3008T>C (p.Val1003Ala) c.2999T>C (p.Val1000Ala) c.3026T>C (p.Val1009Ala) c.3023T>C (p.Val1008Ala) c.3005T>C (p.Val1002Ala) c.2948T>C (p.Val983Ala) c.2882T>C (p.Val961Ala) c.1448T>C (p.Val483Ala) c.800T>C (p.Val267Ala) c.587T>C (p.Val196Ala) c.2861T>C (p.Val954Ala) c.2996T>C (p.Val999Ala) c.3002T>C (p.Val1001Ala) c.2918T>C (p.Val973Ala) c.2846T>C (p.Val949Ala) c.2780T>C (p.Val927Ala) c.2141T>C (p.Val714Ala) c.2759T>C (p.Val920Ala) | |
| 9 | g.137813155T>G | CA375793708 | EHMT1 | c.3017T>G (p.Val1006Gly) c.2903T>G (p.Val968Gly) c.2924T>G (p.Val975Gly) c.3057T>G (n.3057T>G) c.911T>G (p.Val304Gly) c.1874T>G (p.Val625Gly) c.704T>G n.543T>G c.3008T>G (p.Val1003Gly) c.2999T>G (p.Val1000Gly) c.3026T>G (p.Val1009Gly) c.3023T>G (p.Val1008Gly) c.3005T>G (p.Val1002Gly) c.2948T>G (p.Val983Gly) c.2882T>G (p.Val961Gly) c.1448T>G (p.Val483Gly) c.800T>G (p.Val267Gly) c.587T>G (p.Val196Gly) c.2861T>G (p.Val954Gly) c.2996T>G (p.Val999Gly) c.3002T>G (p.Val1001Gly) c.2918T>G (p.Val973Gly) c.2846T>G (p.Val949Gly) c.2780T>G (p.Val927Gly) c.2141T>G (p.Val714Gly) c.2759T>G (p.Val920Gly) | |
| 9 | g.137813156G>A | CA468161102 | EHMT1 | c.3018G>A (p.Val1006=) c.2904G>A (p.Val968=) c.2925G>A (p.Val975=) c.3058G>A (n.3058G>A) c.912G>A (p.Val304=) c.1875G>A (p.Val625=) c.705G>A n.544G>A c.3009G>A (p.Val1003=) c.3000G>A (p.Val1000=) c.3027G>A (p.Val1009=) c.3024G>A (p.Val1008=) c.3006G>A (p.Val1002=) c.2949G>A (p.Val983=) c.2883G>A (p.Val961=) c.1449G>A (p.Val483=) c.801G>A (p.Val267=) c.588G>A (p.Val196=) c.2862G>A (p.Val954=) c.2997G>A (p.Val999=) c.3003G>A (p.Val1001=) c.2919G>A (p.Val973=) c.2847G>A (p.Val949=) c.2781G>A (p.Val927=) c.2142G>A (p.Val714=) c.2760G>A (p.Val920=) | |
| 9 | g.137813156G>C | CA468161103 | EHMT1 | c.3018G>C (p.Val1006=) c.2904G>C (p.Val968=) c.2925G>C (p.Val975=) c.3058G>C (n.3058G>C) c.912G>C (p.Val304=) c.1875G>C (p.Val625=) c.705G>C n.544G>C c.3009G>C (p.Val1003=) c.3000G>C (p.Val1000=) c.3027G>C (p.Val1009=) c.3024G>C (p.Val1008=) c.3006G>C (p.Val1002=) c.2949G>C (p.Val983=) c.2883G>C (p.Val961=) c.1449G>C (p.Val483=) c.801G>C (p.Val267=) c.588G>C (p.Val196=) c.2862G>C (p.Val954=) c.2997G>C (p.Val999=) c.3003G>C (p.Val1001=) c.2919G>C (p.Val973=) c.2847G>C (p.Val949=) c.2781G>C (p.Val927=) c.2142G>C (p.Val714=) c.2760G>C (p.Val920=) | |
| 9 | g.137813156G>T | CA468161104 | EHMT1 | c.3018G>T (p.Val1006=) c.2904G>T (p.Val968=) c.2925G>T (p.Val975=) c.3058G>T (n.3058G>T) c.912G>T (p.Val304=) c.1875G>T (p.Val625=) c.705G>T n.544G>T c.3009G>T (p.Val1003=) c.3000G>T (p.Val1000=) c.3027G>T (p.Val1009=) c.3024G>T (p.Val1008=) c.3006G>T (p.Val1002=) c.2949G>T (p.Val983=) c.2883G>T (p.Val961=) c.1449G>T (p.Val483=) c.801G>T (p.Val267=) c.588G>T (p.Val196=) c.2862G>T (p.Val954=) c.2997G>T (p.Val999=) c.3003G>T (p.Val1001=) c.2919G>T (p.Val973=) c.2847G>T (p.Val949=) c.2781G>T (p.Val927=) c.2142G>T (p.Val714=) c.2760G>T (p.Val920=) | |
| 9 | g.137813157G>A | CA375793711 | EHMT1 | c.3019G>A (p.Glu1007Lys) c.2905G>A (p.Glu969Lys) c.2926G>A (p.Glu976Lys) c.3059G>A (n.3059G>A) c.913G>A (p.Glu305Lys) c.1876G>A (p.Glu626Lys) c.706G>A n.545G>A c.3010G>A (p.Glu1004Lys) c.3001G>A (p.Glu1001Lys) c.3028G>A (p.Glu1010Lys) c.3025G>A (p.Glu1009Lys) c.3007G>A (p.Glu1003Lys) c.2950G>A (p.Glu984Lys) c.2884G>A (p.Glu962Lys) c.1450G>A (p.Glu484Lys) c.802G>A (p.Glu268Lys) c.589G>A (p.Glu197Lys) c.2863G>A (p.Glu955Lys) c.2998G>A (p.Glu1000Lys) c.3004G>A (p.Glu1002Lys) c.2920G>A (p.Glu974Lys) c.2848G>A (p.Glu950Lys) c.2782G>A (p.Glu928Lys) c.2143G>A (p.Glu715Lys) c.2761G>A (p.Glu921Lys) | |
| 9 | g.137813157G>C | CA375793709 | EHMT1 | c.3019G>C (p.Glu1007Gln) c.2905G>C (p.Glu969Gln) c.2926G>C (p.Glu976Gln) c.3059G>C (n.3059G>C) c.913G>C (p.Glu305Gln) c.1876G>C (p.Glu626Gln) c.706G>C n.545G>C c.3010G>C (p.Glu1004Gln) c.3001G>C (p.Glu1001Gln) c.3028G>C (p.Glu1010Gln) c.3025G>C (p.Glu1009Gln) c.3007G>C (p.Glu1003Gln) c.2950G>C (p.Glu984Gln) c.2884G>C (p.Glu962Gln) c.1450G>C (p.Glu484Gln) c.802G>C (p.Glu268Gln) c.589G>C (p.Glu197Gln) c.2863G>C (p.Glu955Gln) c.2998G>C (p.Glu1000Gln) c.3004G>C (p.Glu1002Gln) c.2920G>C (p.Glu974Gln) c.2848G>C (p.Glu950Gln) c.2782G>C (p.Glu928Gln) c.2143G>C (p.Glu715Gln) c.2761G>C (p.Glu921Gln) | |
| 9 | g.137813157G>T | CA375793710 | EHMT1 | c.3019G>T (p.Glu1007Ter) c.2905G>T (p.Glu969Ter) c.2926G>T (p.Glu976Ter) c.3059G>T (n.3059G>T) c.913G>T (p.Glu305Ter) c.1876G>T (p.Glu626Ter) c.706G>T n.545G>T c.3010G>T (p.Glu1004Ter) c.3001G>T (p.Glu1001Ter) c.3028G>T (p.Glu1010Ter) c.3025G>T (p.Glu1009Ter) c.3007G>T (p.Glu1003Ter) c.2950G>T (p.Glu984Ter) c.2884G>T (p.Glu962Ter) c.1450G>T (p.Glu484Ter) c.802G>T (p.Glu268Ter) c.589G>T (p.Glu197Ter) c.2863G>T (p.Glu955Ter) c.2998G>T (p.Glu1000Ter) c.3004G>T (p.Glu1002Ter) c.2920G>T (p.Glu974Ter) c.2848G>T (p.Glu950Ter) c.2782G>T (p.Glu928Ter) c.2143G>T (p.Glu715Ter) c.2761G>T (p.Glu921Ter) | gnomAD v4 |
| 9 | g.137813158A>C | CA375793712 | EHMT1 | c.3020A>C (p.Glu1007Ala) c.2906A>C (p.Glu969Ala) c.2927A>C (p.Glu976Ala) c.3060A>C (n.3060A>C) c.914A>C (p.Glu305Ala) c.1877A>C (p.Glu626Ala) c.707A>C n.546A>C c.3011A>C (p.Glu1004Ala) c.3002A>C (p.Glu1001Ala) c.3029A>C (p.Glu1010Ala) c.3026A>C (p.Glu1009Ala) c.3008A>C (p.Glu1003Ala) c.2951A>C (p.Glu984Ala) c.2885A>C (p.Glu962Ala) c.1451A>C (p.Glu484Ala) c.803A>C (p.Glu268Ala) c.590A>C (p.Glu197Ala) c.2864A>C (p.Glu955Ala) c.2999A>C (p.Glu1000Ala) c.3005A>C (p.Glu1002Ala) c.2921A>C (p.Glu974Ala) c.2849A>C (p.Glu950Ala) c.2783A>C (p.Glu928Ala) c.2144A>C (p.Glu715Ala) c.2762A>C (p.Glu921Ala) | |
| 9 | g.137813158A>G | CA375793713 | EHMT1 | c.3020A>G (p.Glu1007Gly) c.2906A>G (p.Glu969Gly) c.2927A>G (p.Glu976Gly) c.3060A>G (n.3060A>G) c.914A>G (p.Glu305Gly) c.1877A>G (p.Glu626Gly) c.707A>G n.546A>G c.3011A>G (p.Glu1004Gly) c.3002A>G (p.Glu1001Gly) c.3029A>G (p.Glu1010Gly) c.3026A>G (p.Glu1009Gly) c.3008A>G (p.Glu1003Gly) c.2951A>G (p.Glu984Gly) c.2885A>G (p.Glu962Gly) c.1451A>G (p.Glu484Gly) c.803A>G (p.Glu268Gly) c.590A>G (p.Glu197Gly) c.2864A>G (p.Glu955Gly) c.2999A>G (p.Glu1000Gly) c.3005A>G (p.Glu1002Gly) c.2921A>G (p.Glu974Gly) c.2849A>G (p.Glu950Gly) c.2783A>G (p.Glu928Gly) c.2144A>G (p.Glu715Gly) c.2762A>G (p.Glu921Gly) | |
| 9 | g.137813158A>T | CA375793714 | EHMT1 | c.3020A>T (p.Glu1007Val) c.2906A>T (p.Glu969Val) c.2927A>T (p.Glu976Val) c.3060A>T (n.3060A>T) c.914A>T (p.Glu305Val) c.1877A>T (p.Glu626Val) c.707A>T n.546A>T c.3011A>T (p.Glu1004Val) c.3002A>T (p.Glu1001Val) c.3029A>T (p.Glu1010Val) c.3026A>T (p.Glu1009Val) c.3008A>T (p.Glu1003Val) c.2951A>T (p.Glu984Val) c.2885A>T (p.Glu962Val) c.1451A>T (p.Glu484Val) c.803A>T (p.Glu268Val) c.590A>T (p.Glu197Val) c.2864A>T (p.Glu955Val) c.2999A>T (p.Glu1000Val) c.3005A>T (p.Glu1002Val) c.2921A>T (p.Glu974Val) c.2849A>T (p.Glu950Val) c.2783A>T (p.Glu928Val) c.2144A>T (p.Glu715Val) c.2762A>T (p.Glu921Val) | |
| 9 | g.137813159G>A | CA468161105 | EHMT1 | c.3021G>A (p.Glu1007=) c.2907G>A (p.Glu969=) c.2928G>A (p.Glu976=) c.3061G>A (n.3061G>A) c.915G>A (p.Glu305=) c.1878G>A (p.Glu626=) c.708G>A n.547G>A c.3012G>A (p.Glu1004=) c.3003G>A (p.Glu1001=) c.3030G>A (p.Glu1010=) c.3027G>A (p.Glu1009=) c.3009G>A (p.Glu1003=) c.2952G>A (p.Glu984=) c.2886G>A (p.Glu962=) c.1452G>A (p.Glu484=) c.804G>A (p.Glu268=) c.591G>A (p.Glu197=) c.2865G>A (p.Glu955=) c.3000G>A (p.Glu1000=) c.3006G>A (p.Glu1002=) c.2922G>A (p.Glu974=) c.2850G>A (p.Glu950=) c.2784G>A (p.Glu928=) c.2145G>A (p.Glu715=) c.2763G>A (p.Glu921=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.137813159G>C | CA375793715 | EHMT1 | c.3021G>C (p.Glu1007Asp) c.2907G>C (p.Glu969Asp) c.2928G>C (p.Glu976Asp) c.3061G>C (n.3061G>C) c.915G>C (p.Glu305Asp) c.1878G>C (p.Glu626Asp) c.708G>C n.547G>C c.3012G>C (p.Glu1004Asp) c.3003G>C (p.Glu1001Asp) c.3030G>C (p.Glu1010Asp) c.3027G>C (p.Glu1009Asp) c.3009G>C (p.Glu1003Asp) c.2952G>C (p.Glu984Asp) c.2886G>C (p.Glu962Asp) c.1452G>C (p.Glu484Asp) c.804G>C (p.Glu268Asp) c.591G>C (p.Glu197Asp) c.2865G>C (p.Glu955Asp) c.3000G>C (p.Glu1000Asp) c.3006G>C (p.Glu1002Asp) c.2922G>C (p.Glu974Asp) c.2850G>C (p.Glu950Asp) c.2784G>C (p.Glu928Asp) c.2145G>C (p.Glu715Asp) c.2763G>C (p.Glu921Asp) | |
| 9 | g.137813159G= | CA1884685734 | EHMT1 | c.3021G= (p.Glu1007=) c.2907G= (p.Glu969=) c.2928G= (p.Glu976=) c.3061G= (n.3061G=) c.915G= (p.Glu305=) c.1878G= (p.Glu626=) c.708G= n.547G= c.3012G= (p.Glu1004=) c.3003G= (p.Glu1001=) c.3030G= (p.Glu1010=) c.3027G= (p.Glu1009=) c.3009G= (p.Glu1003=) c.2952G= (p.Glu984=) c.2886G= (p.Glu962=) c.1452G= (p.Glu484=) c.804G= (p.Glu268=) c.591G= (p.Glu197=) c.2865G= (p.Glu955=) c.3000G= (p.Glu1000=) c.3006G= (p.Glu1002=) c.2922G= (p.Glu974=) c.2850G= (p.Glu950=) c.2784G= (p.Glu928=) c.2145G= (p.Glu715=) c.2763G= (p.Glu921=) | |
| 9 | g.137813159G>T | CA375793716 | EHMT1 | c.3021G>T (p.Glu1007Asp) c.2907G>T (p.Glu969Asp) c.2928G>T (p.Glu976Asp) c.3061G>T (n.3061G>T) c.915G>T (p.Glu305Asp) c.1878G>T (p.Glu626Asp) c.708G>T n.547G>T c.3012G>T (p.Glu1004Asp) c.3003G>T (p.Glu1001Asp) c.3030G>T (p.Glu1010Asp) c.3027G>T (p.Glu1009Asp) c.3009G>T (p.Glu1003Asp) c.2952G>T (p.Glu984Asp) c.2886G>T (p.Glu962Asp) c.1452G>T (p.Glu484Asp) c.804G>T (p.Glu268Asp) c.591G>T (p.Glu197Asp) c.2865G>T (p.Glu955Asp) c.3000G>T (p.Glu1000Asp) c.3006G>T (p.Glu1002Asp) c.2922G>T (p.Glu974Asp) c.2850G>T (p.Glu950Asp) c.2784G>T (p.Glu928Asp) c.2145G>T (p.Glu715Asp) c.2763G>T (p.Glu921Asp) | gnomAD v4 |
| 9 | g.137813160A= | CA1884685735 | EHMT1 | c.3022A= (p.Arg1008=) c.2908A= (p.Arg970=) c.2929A= (p.Arg977=) c.3062A= (n.3062A=) c.916A= (p.Arg306=) c.1879A= (p.Arg627=) c.709A= n.548A= c.3013A= (p.Arg1005=) c.3004A= (p.Arg1002=) c.3031A= (p.Arg1011=) c.3028A= (p.Arg1010=) c.3010A= (p.Arg1004=) c.2953A= (p.Arg985=) c.2887A= (p.Arg963=) c.1453A= (p.Arg485=) c.805A= (p.Arg269=) c.592A= (p.Arg198=) c.2866A= (p.Arg956=) c.3001A= (p.Arg1001=) c.3007A= (p.Arg1003=) c.2923A= (p.Arg975=) c.2851A= (p.Arg951=) c.2785A= (p.Arg929=) c.2146A= (p.Arg716=) c.2764A= (p.Arg922=) | |
| 9 | g.137813160A>C | CA5375128 | EHMT1 | c.3022A>C (p.Arg1008=) c.2908A>C (p.Arg970=) c.2929A>C (p.Arg977=) c.3062A>C (n.3062A>C) c.916A>C (p.Arg306=) c.1879A>C (p.Arg627=) c.709A>C n.548A>C c.3013A>C (p.Arg1005=) c.3004A>C (p.Arg1002=) c.3031A>C (p.Arg1011=) c.3028A>C (p.Arg1010=) c.3010A>C (p.Arg1004=) c.2953A>C (p.Arg985=) c.2887A>C (p.Arg963=) c.1453A>C (p.Arg485=) c.805A>C (p.Arg269=) c.592A>C (p.Arg198=) c.2866A>C (p.Arg956=) c.3001A>C (p.Arg1001=) c.3007A>C (p.Arg1003=) c.2923A>C (p.Arg975=) c.2851A>C (p.Arg951=) c.2785A>C (p.Arg929=) c.2146A>C (p.Arg716=) c.2764A>C (p.Arg922=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813160A>G | CA375793717 | EHMT1 | c.3022A>G (p.Arg1008Gly) c.2908A>G (p.Arg970Gly) c.2929A>G (p.Arg977Gly) c.3062A>G (n.3062A>G) c.916A>G (p.Arg306Gly) c.1879A>G (p.Arg627Gly) c.709A>G n.548A>G c.3013A>G (p.Arg1005Gly) c.3004A>G (p.Arg1002Gly) c.3031A>G (p.Arg1011Gly) c.3028A>G (p.Arg1010Gly) c.3010A>G (p.Arg1004Gly) c.2953A>G (p.Arg985Gly) c.2887A>G (p.Arg963Gly) c.1453A>G (p.Arg485Gly) c.805A>G (p.Arg269Gly) c.592A>G (p.Arg198Gly) c.2866A>G (p.Arg956Gly) c.3001A>G (p.Arg1001Gly) c.3007A>G (p.Arg1003Gly) c.2923A>G (p.Arg975Gly) c.2851A>G (p.Arg951Gly) c.2785A>G (p.Arg929Gly) c.2146A>G (p.Arg716Gly) c.2764A>G (p.Arg922Gly) | gnomAD v4 |
| 9 | g.137813160A>T | CA375793718 | EHMT1 | c.3022A>T (p.Arg1008Trp) c.2908A>T (p.Arg970Trp) c.2929A>T (p.Arg977Trp) c.3062A>T (n.3062A>T) c.916A>T (p.Arg306Trp) c.1879A>T (p.Arg627Trp) c.709A>T n.548A>T c.3013A>T (p.Arg1005Trp) c.3004A>T (p.Arg1002Trp) c.3031A>T (p.Arg1011Trp) c.3028A>T (p.Arg1010Trp) c.3010A>T (p.Arg1004Trp) c.2953A>T (p.Arg985Trp) c.2887A>T (p.Arg963Trp) c.1453A>T (p.Arg485Trp) c.805A>T (p.Arg269Trp) c.592A>T (p.Arg198Trp) c.2866A>T (p.Arg956Trp) c.3001A>T (p.Arg1001Trp) c.3007A>T (p.Arg1003Trp) c.2923A>T (p.Arg975Trp) c.2851A>T (p.Arg951Trp) c.2785A>T (p.Arg929Trp) c.2146A>T (p.Arg716Trp) c.2764A>T (p.Arg922Trp) | |
| 9 | g.137813161G>A | CA375793719 | EHMT1 | c.3023G>A (p.Arg1008Lys) c.2909G>A (p.Arg970Lys) c.2930G>A (p.Arg977Lys) c.3063G>A (n.3063G>A) c.917G>A (p.Arg306Lys) c.1880G>A (p.Arg627Lys) c.710G>A n.549G>A c.3014G>A (p.Arg1005Lys) c.3005G>A (p.Arg1002Lys) c.3032G>A (p.Arg1011Lys) c.3029G>A (p.Arg1010Lys) c.3011G>A (p.Arg1004Lys) c.2954G>A (p.Arg985Lys) c.2888G>A (p.Arg963Lys) c.1454G>A (p.Arg485Lys) c.806G>A (p.Arg269Lys) c.593G>A (p.Arg198Lys) c.2867G>A (p.Arg956Lys) c.3002G>A (p.Arg1001Lys) c.3008G>A (p.Arg1003Lys) c.2924G>A (p.Arg975Lys) c.2852G>A (p.Arg951Lys) c.2786G>A (p.Arg929Lys) c.2147G>A (p.Arg716Lys) c.2765G>A (p.Arg922Lys) | |
| 9 | g.137813161G>C | CA375793720 | EHMT1 | c.3023G>C (p.Arg1008Thr) c.2909G>C (p.Arg970Thr) c.2930G>C (p.Arg977Thr) c.3063G>C (n.3063G>C) c.917G>C (p.Arg306Thr) c.1880G>C (p.Arg627Thr) c.710G>C n.549G>C c.3014G>C (p.Arg1005Thr) c.3005G>C (p.Arg1002Thr) c.3032G>C (p.Arg1011Thr) c.3029G>C (p.Arg1010Thr) c.3011G>C (p.Arg1004Thr) c.2954G>C (p.Arg985Thr) c.2888G>C (p.Arg963Thr) c.1454G>C (p.Arg485Thr) c.806G>C (p.Arg269Thr) c.593G>C (p.Arg198Thr) c.2867G>C (p.Arg956Thr) c.3002G>C (p.Arg1001Thr) c.3008G>C (p.Arg1003Thr) c.2924G>C (p.Arg975Thr) c.2852G>C (p.Arg951Thr) c.2786G>C (p.Arg929Thr) c.2147G>C (p.Arg716Thr) c.2765G>C (p.Arg922Thr) | |
| 9 | g.137813161G>T | CA375793721 | EHMT1 | c.3023G>T (p.Arg1008Met) c.2909G>T (p.Arg970Met) c.2930G>T (p.Arg977Met) c.3063G>T (n.3063G>T) c.917G>T (p.Arg306Met) c.1880G>T (p.Arg627Met) c.710G>T n.549G>T c.3014G>T (p.Arg1005Met) c.3005G>T (p.Arg1002Met) c.3032G>T (p.Arg1011Met) c.3029G>T (p.Arg1010Met) c.3011G>T (p.Arg1004Met) c.2954G>T (p.Arg985Met) c.2888G>T (p.Arg963Met) c.1454G>T (p.Arg485Met) c.806G>T (p.Arg269Met) c.593G>T (p.Arg198Met) c.2867G>T (p.Arg956Met) c.3002G>T (p.Arg1001Met) c.3008G>T (p.Arg1003Met) c.2924G>T (p.Arg975Met) c.2852G>T (p.Arg951Met) c.2786G>T (p.Arg929Met) c.2147G>T (p.Arg716Met) c.2765G>T (p.Arg922Met) | |
| 9 | g.137813162G>A | CA468161106 | EHMT1 | c.3024G>A (p.Arg1008=) c.2910G>A (p.Arg970=) c.2931G>A (p.Arg977=) c.3064G>A (n.3064G>A) c.918G>A (p.Arg306=) c.1881G>A (p.Arg627=) c.711G>A n.550G>A c.3015G>A (p.Arg1005=) c.3006G>A (p.Arg1002=) c.3033G>A (p.Arg1011=) c.3030G>A (p.Arg1010=) c.3012G>A (p.Arg1004=) c.2955G>A (p.Arg985=) c.2889G>A (p.Arg963=) c.1455G>A (p.Arg485=) c.807G>A (p.Arg269=) c.594G>A (p.Arg198=) c.2868G>A (p.Arg956=) c.3003G>A (p.Arg1001=) c.3009G>A (p.Arg1003=) c.2925G>A (p.Arg975=) c.2853G>A (p.Arg951=) c.2787G>A (p.Arg929=) c.2148G>A (p.Arg716=) c.2766G>A (p.Arg922=) | |
| 9 | g.137813162G>C | CA375793723 | EHMT1 | c.3024G>C (p.Arg1008Ser) c.2910G>C (p.Arg970Ser) c.2931G>C (p.Arg977Ser) c.3064G>C (n.3064G>C) c.918G>C (p.Arg306Ser) c.1881G>C (p.Arg627Ser) c.711G>C n.550G>C c.3015G>C (p.Arg1005Ser) c.3006G>C (p.Arg1002Ser) c.3033G>C (p.Arg1011Ser) c.3030G>C (p.Arg1010Ser) c.3012G>C (p.Arg1004Ser) c.2955G>C (p.Arg985Ser) c.2889G>C (p.Arg963Ser) c.1455G>C (p.Arg485Ser) c.807G>C (p.Arg269Ser) c.594G>C (p.Arg198Ser) c.2868G>C (p.Arg956Ser) c.3003G>C (p.Arg1001Ser) c.3009G>C (p.Arg1003Ser) c.2925G>C (p.Arg975Ser) c.2853G>C (p.Arg951Ser) c.2787G>C (p.Arg929Ser) c.2148G>C (p.Arg716Ser) c.2766G>C (p.Arg922Ser) | |
| 9 | g.137813162G>T | CA375793722 | EHMT1 | c.3024G>T (p.Arg1008Ser) c.2910G>T (p.Arg970Ser) c.2931G>T (p.Arg977Ser) c.3064G>T (n.3064G>T) c.918G>T (p.Arg306Ser) c.1881G>T (p.Arg627Ser) c.711G>T n.550G>T c.3015G>T (p.Arg1005Ser) c.3006G>T (p.Arg1002Ser) c.3033G>T (p.Arg1011Ser) c.3030G>T (p.Arg1010Ser) c.3012G>T (p.Arg1004Ser) c.2955G>T (p.Arg985Ser) c.2889G>T (p.Arg963Ser) c.1455G>T (p.Arg485Ser) c.807G>T (p.Arg269Ser) c.594G>T (p.Arg198Ser) c.2868G>T (p.Arg956Ser) c.3003G>T (p.Arg1001Ser) c.3009G>T (p.Arg1003Ser) c.2925G>T (p.Arg975Ser) c.2853G>T (p.Arg951Ser) c.2787G>T (p.Arg929Ser) c.2148G>T (p.Arg716Ser) c.2766G>T (p.Arg922Ser) | |
| 9 | g.137813163A>C | CA375793724 | EHMT1 | c.3025A>C (p.Ile1009Leu) c.2911A>C (p.Ile971Leu) c.2932A>C (p.Ile978Leu) c.3065A>C (n.3065A>C) c.919A>C (p.Ile307Leu) c.1882A>C (p.Ile628Leu) c.712A>C n.551A>C c.3016A>C (p.Ile1006Leu) c.3007A>C (p.Ile1003Leu) c.3034A>C (p.Ile1012Leu) c.3031A>C (p.Ile1011Leu) c.3013A>C (p.Ile1005Leu) c.2956A>C (p.Ile986Leu) c.2890A>C (p.Ile964Leu) c.1456A>C (p.Ile486Leu) c.808A>C (p.Ile270Leu) c.595A>C (p.Ile199Leu) c.2869A>C (p.Ile957Leu) c.3004A>C (p.Ile1002Leu) c.3010A>C (p.Ile1004Leu) c.2926A>C (p.Ile976Leu) c.2854A>C (p.Ile952Leu) c.2788A>C (p.Ile930Leu) c.2149A>C (p.Ile717Leu) c.2767A>C (p.Ile923Leu) | |
| 9 | g.137813163A>G | CA375793725 | EHMT1 | c.3025A>G (p.Ile1009Val) c.2911A>G (p.Ile971Val) c.2932A>G (p.Ile978Val) c.3065A>G (n.3065A>G) c.919A>G (p.Ile307Val) c.1882A>G (p.Ile628Val) c.712A>G n.551A>G c.3016A>G (p.Ile1006Val) c.3007A>G (p.Ile1003Val) c.3034A>G (p.Ile1012Val) c.3031A>G (p.Ile1011Val) c.3013A>G (p.Ile1005Val) c.2956A>G (p.Ile986Val) c.2890A>G (p.Ile964Val) c.1456A>G (p.Ile486Val) c.808A>G (p.Ile270Val) c.595A>G (p.Ile199Val) c.2869A>G (p.Ile957Val) c.3004A>G (p.Ile1002Val) c.3010A>G (p.Ile1004Val) c.2926A>G (p.Ile976Val) c.2854A>G (p.Ile952Val) c.2788A>G (p.Ile930Val) c.2149A>G (p.Ile717Val) c.2767A>G (p.Ile923Val) | gnomAD v4 |
| 9 | g.137813163A>T | CA375793726 | EHMT1 | c.3025A>T (p.Ile1009Leu) c.2911A>T (p.Ile971Leu) c.2932A>T (p.Ile978Leu) c.3065A>T (n.3065A>T) c.919A>T (p.Ile307Leu) c.1882A>T (p.Ile628Leu) c.712A>T n.551A>T c.3016A>T (p.Ile1006Leu) c.3007A>T (p.Ile1003Leu) c.3034A>T (p.Ile1012Leu) c.3031A>T (p.Ile1011Leu) c.3013A>T (p.Ile1005Leu) c.2956A>T (p.Ile986Leu) c.2890A>T (p.Ile964Leu) c.1456A>T (p.Ile486Leu) c.808A>T (p.Ile270Leu) c.595A>T (p.Ile199Leu) c.2869A>T (p.Ile957Leu) c.3004A>T (p.Ile1002Leu) c.3010A>T (p.Ile1004Leu) c.2926A>T (p.Ile976Leu) c.2854A>T (p.Ile952Leu) c.2788A>T (p.Ile930Leu) c.2149A>T (p.Ile717Leu) c.2767A>T (p.Ile923Leu) | |
| 9 | g.137813164T>A | CA375793727 | EHMT1 | c.3026T>A (p.Ile1009Lys) c.2912T>A (p.Ile971Lys) c.2933T>A (p.Ile978Lys) c.3066T>A (n.3066T>A) c.920T>A (p.Ile307Lys) c.1883T>A (p.Ile628Lys) c.713T>A n.552T>A c.3017T>A (p.Ile1006Lys) c.3008T>A (p.Ile1003Lys) c.3035T>A (p.Ile1012Lys) c.3032T>A (p.Ile1011Lys) c.3014T>A (p.Ile1005Lys) c.2957T>A (p.Ile986Lys) c.2891T>A (p.Ile964Lys) c.1457T>A (p.Ile486Lys) c.809T>A (p.Ile270Lys) c.596T>A (p.Ile199Lys) c.2870T>A (p.Ile957Lys) c.3005T>A (p.Ile1002Lys) c.3011T>A (p.Ile1004Lys) c.2927T>A (p.Ile976Lys) c.2855T>A (p.Ile952Lys) c.2789T>A (p.Ile930Lys) c.2150T>A (p.Ile717Lys) c.2768T>A (p.Ile923Lys) | |
| 9 | g.137813164T>C | CA375793728 | EHMT1 | c.3026T>C (p.Ile1009Thr) c.2912T>C (p.Ile971Thr) c.2933T>C (p.Ile978Thr) c.3066T>C (n.3066T>C) c.920T>C (p.Ile307Thr) c.1883T>C (p.Ile628Thr) c.713T>C n.552T>C c.3017T>C (p.Ile1006Thr) c.3008T>C (p.Ile1003Thr) c.3035T>C (p.Ile1012Thr) c.3032T>C (p.Ile1011Thr) c.3014T>C (p.Ile1005Thr) c.2957T>C (p.Ile986Thr) c.2891T>C (p.Ile964Thr) c.1457T>C (p.Ile486Thr) c.809T>C (p.Ile270Thr) c.596T>C (p.Ile199Thr) c.2870T>C (p.Ile957Thr) c.3005T>C (p.Ile1002Thr) c.3011T>C (p.Ile1004Thr) c.2927T>C (p.Ile976Thr) c.2855T>C (p.Ile952Thr) c.2789T>C (p.Ile930Thr) c.2150T>C (p.Ile717Thr) c.2768T>C (p.Ile923Thr) | |
| 9 | g.137813164T>G | CA375793729 | EHMT1 | c.3026T>G (p.Ile1009Arg) c.2912T>G (p.Ile971Arg) c.2933T>G (p.Ile978Arg) c.3066T>G (n.3066T>G) c.920T>G (p.Ile307Arg) c.1883T>G (p.Ile628Arg) c.713T>G n.552T>G c.3017T>G (p.Ile1006Arg) c.3008T>G (p.Ile1003Arg) c.3035T>G (p.Ile1012Arg) c.3032T>G (p.Ile1011Arg) c.3014T>G (p.Ile1005Arg) c.2957T>G (p.Ile986Arg) c.2891T>G (p.Ile964Arg) c.1457T>G (p.Ile486Arg) c.809T>G (p.Ile270Arg) c.596T>G (p.Ile199Arg) c.2870T>G (p.Ile957Arg) c.3005T>G (p.Ile1002Arg) c.3011T>G (p.Ile1004Arg) c.2927T>G (p.Ile976Arg) c.2855T>G (p.Ile952Arg) c.2789T>G (p.Ile930Arg) c.2150T>G (p.Ile717Arg) c.2768T>G (p.Ile923Arg) | |
| 9 | g.137813165A= | CA1884685736 | EHMT1 | c.3027A= (p.Ile1009=) c.2913A= (p.Ile971=) c.2934A= (p.Ile978=) c.3067A= (n.3067A=) c.921A= (p.Ile307=) c.1884A= (p.Ile628=) c.714A= n.553A= c.3018A= (p.Ile1006=) c.3009A= (p.Ile1003=) c.3036A= (p.Ile1012=) c.3033A= (p.Ile1011=) c.3015A= (p.Ile1005=) c.2958A= (p.Ile986=) c.2892A= (p.Ile964=) c.1458A= (p.Ile486=) c.810A= (p.Ile270=) c.597A= (p.Ile199=) c.2871A= (p.Ile957=) c.3006A= (p.Ile1002=) c.3012A= (p.Ile1004=) c.2928A= (p.Ile976=) c.2856A= (p.Ile952=) c.2790A= (p.Ile930=) c.2151A= (p.Ile717=) c.2769A= (p.Ile923=) | |
| 9 | g.137813165A>C | CA468161107 | EHMT1 | c.3027A>C (p.Ile1009=) c.2913A>C (p.Ile971=) c.2934A>C (p.Ile978=) c.3067A>C (n.3067A>C) c.921A>C (p.Ile307=) c.1884A>C (p.Ile628=) c.714A>C n.553A>C c.3018A>C (p.Ile1006=) c.3009A>C (p.Ile1003=) c.3036A>C (p.Ile1012=) c.3033A>C (p.Ile1011=) c.3015A>C (p.Ile1005=) c.2958A>C (p.Ile986=) c.2892A>C (p.Ile964=) c.1458A>C (p.Ile486=) c.810A>C (p.Ile270=) c.597A>C (p.Ile199=) c.2871A>C (p.Ile957=) c.3006A>C (p.Ile1002=) c.3012A>C (p.Ile1004=) c.2928A>C (p.Ile976=) c.2856A>C (p.Ile952=) c.2790A>C (p.Ile930=) c.2151A>C (p.Ile717=) c.2769A>C (p.Ile923=) | |
| 9 | g.137813165A>G | CA5375129 | EHMT1 | c.3027A>G (p.Ile1009Met) c.2913A>G (p.Ile971Met) c.2934A>G (p.Ile978Met) c.3067A>G (n.3067A>G) c.921A>G (p.Ile307Met) c.1884A>G (p.Ile628Met) c.714A>G n.553A>G c.3018A>G (p.Ile1006Met) c.3009A>G (p.Ile1003Met) c.3036A>G (p.Ile1012Met) c.3033A>G (p.Ile1011Met) c.3015A>G (p.Ile1005Met) c.2958A>G (p.Ile986Met) c.2892A>G (p.Ile964Met) c.1458A>G (p.Ile486Met) c.810A>G (p.Ile270Met) c.597A>G (p.Ile199Met) c.2871A>G (p.Ile957Met) c.3006A>G (p.Ile1002Met) c.3012A>G (p.Ile1004Met) c.2928A>G (p.Ile976Met) c.2856A>G (p.Ile952Met) c.2790A>G (p.Ile930Met) c.2151A>G (p.Ile717Met) c.2769A>G (p.Ile923Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813165A>T | CA468161108 | EHMT1 | c.3027A>T (p.Ile1009=) c.2913A>T (p.Ile971=) c.2934A>T (p.Ile978=) c.3067A>T (n.3067A>T) c.921A>T (p.Ile307=) c.1884A>T (p.Ile628=) c.714A>T n.553A>T c.3018A>T (p.Ile1006=) c.3009A>T (p.Ile1003=) c.3036A>T (p.Ile1012=) c.3033A>T (p.Ile1011=) c.3015A>T (p.Ile1005=) c.2958A>T (p.Ile986=) c.2892A>T (p.Ile964=) c.1458A>T (p.Ile486=) c.810A>T (p.Ile270=) c.597A>T (p.Ile199=) c.2871A>T (p.Ile957=) c.3006A>T (p.Ile1002=) c.3012A>T (p.Ile1004=) c.2928A>T (p.Ile976=) c.2856A>T (p.Ile952=) c.2790A>T (p.Ile930=) c.2151A>T (p.Ile717=) c.2769A>T (p.Ile923=) | |
| 9 | g.137813166G>A | CA205938 | EHMT1 | c.3028G>A (p.Val1010Met) c.2914G>A (p.Val972Met) c.2935G>A (p.Val979Met) c.3068G>A (n.3068G>A) c.922G>A (p.Val308Met) c.1885G>A (p.Val629Met) c.715G>A n.554G>A c.3019G>A (p.Val1007Met) c.3010G>A (p.Val1004Met) c.3037G>A (p.Val1013Met) c.3034G>A (p.Val1012Met) c.3016G>A (p.Val1006Met) c.2959G>A (p.Val987Met) c.2893G>A (p.Val965Met) c.1459G>A (p.Val487Met) c.811G>A (p.Val271Met) c.598G>A (p.Val200Met) c.2872G>A (p.Val958Met) c.3007G>A (p.Val1003Met) c.3013G>A (p.Val1005Met) c.2929G>A (p.Val977Met) c.2857G>A (p.Val953Met) c.2791G>A (p.Val931Met) c.2152G>A (p.Val718Met) c.2770G>A (p.Val924Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813166G>C | CA375793730 | EHMT1 | c.3028G>C (p.Val1010Leu) c.2914G>C (p.Val972Leu) c.2935G>C (p.Val979Leu) c.3068G>C (n.3068G>C) c.922G>C (p.Val308Leu) c.1885G>C (p.Val629Leu) c.715G>C n.554G>C c.3019G>C (p.Val1007Leu) c.3010G>C (p.Val1004Leu) c.3037G>C (p.Val1013Leu) c.3034G>C (p.Val1012Leu) c.3016G>C (p.Val1006Leu) c.2959G>C (p.Val987Leu) c.2893G>C (p.Val965Leu) c.1459G>C (p.Val487Leu) c.811G>C (p.Val271Leu) c.598G>C (p.Val200Leu) c.2872G>C (p.Val958Leu) c.3007G>C (p.Val1003Leu) c.3013G>C (p.Val1005Leu) c.2929G>C (p.Val977Leu) c.2857G>C (p.Val953Leu) c.2791G>C (p.Val931Leu) c.2152G>C (p.Val718Leu) c.2770G>C (p.Val924Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137813166G= | CA1884685737 | EHMT1 | c.3028G= (p.Val1010=) c.2914G= (p.Val972=) c.2935G= (p.Val979=) c.3068G= (n.3068G=) c.922G= (p.Val308=) c.1885G= (p.Val629=) c.715G= n.554G= c.3019G= (p.Val1007=) c.3010G= (p.Val1004=) c.3037G= (p.Val1013=) c.3034G= (p.Val1012=) c.3016G= (p.Val1006=) c.2959G= (p.Val987=) c.2893G= (p.Val965=) c.1459G= (p.Val487=) c.811G= (p.Val271=) c.598G= (p.Val200=) c.2872G= (p.Val958=) c.3007G= (p.Val1003=) c.3013G= (p.Val1005=) c.2929G= (p.Val977=) c.2857G= (p.Val953=) c.2791G= (p.Val931=) c.2152G= (p.Val718=) c.2770G= (p.Val924=) | |
| 9 | g.137813166G>T | CA375793731 | EHMT1 | c.3028G>T (p.Val1010Leu) c.2914G>T (p.Val972Leu) c.2935G>T (p.Val979Leu) c.3068G>T (n.3068G>T) c.922G>T (p.Val308Leu) c.1885G>T (p.Val629Leu) c.715G>T n.554G>T c.3019G>T (p.Val1007Leu) c.3010G>T (p.Val1004Leu) c.3037G>T (p.Val1013Leu) c.3034G>T (p.Val1012Leu) c.3016G>T (p.Val1006Leu) c.2959G>T (p.Val987Leu) c.2893G>T (p.Val965Leu) c.1459G>T (p.Val487Leu) c.811G>T (p.Val271Leu) c.598G>T (p.Val200Leu) c.2872G>T (p.Val958Leu) c.3007G>T (p.Val1003Leu) c.3013G>T (p.Val1005Leu) c.2929G>T (p.Val977Leu) c.2857G>T (p.Val953Leu) c.2791G>T (p.Val931Leu) c.2152G>T (p.Val718Leu) c.2770G>T (p.Val924Leu) | gnomAD v4 |
| 9 | g.137813167T>A | CA375793732 | EHMT1 | c.3029T>A (p.Val1010Glu) c.2915T>A (p.Val972Glu) c.2936T>A (p.Val979Glu) c.3069T>A (n.3069T>A) c.923T>A (p.Val308Glu) c.1886T>A (p.Val629Glu) c.716T>A n.555T>A c.3020T>A (p.Val1007Glu) c.3011T>A (p.Val1004Glu) c.3038T>A (p.Val1013Glu) c.3035T>A (p.Val1012Glu) c.3017T>A (p.Val1006Glu) c.2960T>A (p.Val987Glu) c.2894T>A (p.Val965Glu) c.1460T>A (p.Val487Glu) c.812T>A (p.Val271Glu) c.599T>A (p.Val200Glu) c.2873T>A (p.Val958Glu) c.3008T>A (p.Val1003Glu) c.3014T>A (p.Val1005Glu) c.2930T>A (p.Val977Glu) c.2858T>A (p.Val953Glu) c.2792T>A (p.Val931Glu) c.2153T>A (p.Val718Glu) c.2771T>A (p.Val924Glu) | gnomAD v4 |
| 9 | g.137813167T>C | CA375793733 | EHMT1 | c.3029T>C (p.Val1010Ala) c.2915T>C (p.Val972Ala) c.2936T>C (p.Val979Ala) c.3069T>C (n.3069T>C) c.923T>C (p.Val308Ala) c.1886T>C (p.Val629Ala) c.716T>C n.555T>C c.3020T>C (p.Val1007Ala) c.3011T>C (p.Val1004Ala) c.3038T>C (p.Val1013Ala) c.3035T>C (p.Val1012Ala) c.3017T>C (p.Val1006Ala) c.2960T>C (p.Val987Ala) c.2894T>C (p.Val965Ala) c.1460T>C (p.Val487Ala) c.812T>C (p.Val271Ala) c.599T>C (p.Val200Ala) c.2873T>C (p.Val958Ala) c.3008T>C (p.Val1003Ala) c.3014T>C (p.Val1005Ala) c.2930T>C (p.Val977Ala) c.2858T>C (p.Val953Ala) c.2792T>C (p.Val931Ala) c.2153T>C (p.Val718Ala) c.2771T>C (p.Val924Ala) | gnomAD v4 |
| 9 | g.137813167T>G | CA375793734 | EHMT1 | c.3029T>G (p.Val1010Gly) c.2915T>G (p.Val972Gly) c.2936T>G (p.Val979Gly) c.3069T>G (n.3069T>G) c.923T>G (p.Val308Gly) c.1886T>G (p.Val629Gly) c.716T>G n.555T>G c.3020T>G (p.Val1007Gly) c.3011T>G (p.Val1004Gly) c.3038T>G (p.Val1013Gly) c.3035T>G (p.Val1012Gly) c.3017T>G (p.Val1006Gly) c.2960T>G (p.Val987Gly) c.2894T>G (p.Val965Gly) c.1460T>G (p.Val487Gly) c.812T>G (p.Val271Gly) c.599T>G (p.Val200Gly) c.2873T>G (p.Val958Gly) c.3008T>G (p.Val1003Gly) c.3014T>G (p.Val1005Gly) c.2930T>G (p.Val977Gly) c.2858T>G (p.Val953Gly) c.2792T>G (p.Val931Gly) c.2153T>G (p.Val718Gly) c.2771T>G (p.Val924Gly) | ClinVar dbSNP gnomAD v4 |
| 9 | g.137813168G>A | CA468161109 | EHMT1 | c.3030G>A (p.Val1010=) c.2916G>A (p.Val972=) c.2937G>A (p.Val979=) c.3070G>A (n.3070G>A) c.924G>A (p.Val308=) c.1887G>A (p.Val629=) c.717G>A n.556G>A c.3021G>A (p.Val1007=) c.3012G>A (p.Val1004=) c.3039G>A (p.Val1013=) c.3036G>A (p.Val1012=) c.3018G>A (p.Val1006=) c.2961G>A (p.Val987=) c.2895G>A (p.Val965=) c.1461G>A (p.Val487=) c.813G>A (p.Val271=) c.600G>A (p.Val200=) c.2874G>A (p.Val958=) c.3009G>A (p.Val1003=) c.3015G>A (p.Val1005=) c.2931G>A (p.Val977=) c.2859G>A (p.Val953=) c.2793G>A (p.Val931=) c.2154G>A (p.Val718=) c.2772G>A (p.Val924=) | |
| 9 | g.137813168G>C | CA468161110 | EHMT1 | c.3030G>C (p.Val1010=) c.2916G>C (p.Val972=) c.2937G>C (p.Val979=) c.3070G>C (n.3070G>C) c.924G>C (p.Val308=) c.1887G>C (p.Val629=) c.717G>C n.556G>C c.3021G>C (p.Val1007=) c.3012G>C (p.Val1004=) c.3039G>C (p.Val1013=) c.3036G>C (p.Val1012=) c.3018G>C (p.Val1006=) c.2961G>C (p.Val987=) c.2895G>C (p.Val965=) c.1461G>C (p.Val487=) c.813G>C (p.Val271=) c.600G>C (p.Val200=) c.2874G>C (p.Val958=) c.3009G>C (p.Val1003=) c.3015G>C (p.Val1005=) c.2931G>C (p.Val977=) c.2859G>C (p.Val953=) c.2793G>C (p.Val931=) c.2154G>C (p.Val718=) c.2772G>C (p.Val924=) | |
| 9 | g.137813168G>T | CA468161111 | EHMT1 | c.3030G>T (p.Val1010=) c.2916G>T (p.Val972=) c.2937G>T (p.Val979=) c.3070G>T (n.3070G>T) c.924G>T (p.Val308=) c.1887G>T (p.Val629=) c.717G>T n.556G>T c.3021G>T (p.Val1007=) c.3012G>T (p.Val1004=) c.3039G>T (p.Val1013=) c.3036G>T (p.Val1012=) c.3018G>T (p.Val1006=) c.2961G>T (p.Val987=) c.2895G>T (p.Val965=) c.1461G>T (p.Val487=) c.813G>T (p.Val271=) c.600G>T (p.Val200=) c.2874G>T (p.Val958=) c.3009G>T (p.Val1003=) c.3015G>T (p.Val1005=) c.2931G>T (p.Val977=) c.2859G>T (p.Val953=) c.2793G>T (p.Val931=) c.2154G>T (p.Val718=) c.2772G>T (p.Val924=) | gnomAD v4 |
| 9 | g.137813169A>C | CA375793737 | EHMT1 | c.3031A>C (p.Ser1011Arg) c.2917A>C (p.Ser973Arg) c.2938A>C (p.Ser980Arg) c.3071A>C (n.3071A>C) c.925A>C (p.Ser309Arg) c.1888A>C (p.Ser630Arg) c.718A>C n.557A>C c.3022A>C (p.Ser1008Arg) c.3013A>C (p.Ser1005Arg) c.3040A>C (p.Ser1014Arg) c.3037A>C (p.Ser1013Arg) c.3019A>C (p.Ser1007Arg) c.2962A>C (p.Ser988Arg) c.2896A>C (p.Ser966Arg) c.1462A>C (p.Ser488Arg) c.814A>C (p.Ser272Arg) c.601A>C (p.Ser201Arg) c.2875A>C (p.Ser959Arg) c.3010A>C (p.Ser1004Arg) c.3016A>C (p.Ser1006Arg) c.2932A>C (p.Ser978Arg) c.2860A>C (p.Ser954Arg) c.2794A>C (p.Ser932Arg) c.2155A>C (p.Ser719Arg) c.2773A>C (p.Ser925Arg) | |
| 9 | g.137813169A>G | CA375793735 | EHMT1 | c.3031A>G (p.Ser1011Gly) c.2917A>G (p.Ser973Gly) c.2938A>G (p.Ser980Gly) c.3071A>G (n.3071A>G) c.925A>G (p.Ser309Gly) c.1888A>G (p.Ser630Gly) c.718A>G n.557A>G c.3022A>G (p.Ser1008Gly) c.3013A>G (p.Ser1005Gly) c.3040A>G (p.Ser1014Gly) c.3037A>G (p.Ser1013Gly) c.3019A>G (p.Ser1007Gly) c.2962A>G (p.Ser988Gly) c.2896A>G (p.Ser966Gly) c.1462A>G (p.Ser488Gly) c.814A>G (p.Ser272Gly) c.601A>G (p.Ser201Gly) c.2875A>G (p.Ser959Gly) c.3010A>G (p.Ser1004Gly) c.3016A>G (p.Ser1006Gly) c.2932A>G (p.Ser978Gly) c.2860A>G (p.Ser954Gly) c.2794A>G (p.Ser932Gly) c.2155A>G (p.Ser719Gly) c.2773A>G (p.Ser925Gly) | |
| 9 | g.137813169A>T | CA375793736 | EHMT1 | c.3031A>T (p.Ser1011Cys) c.2917A>T (p.Ser973Cys) c.2938A>T (p.Ser980Cys) c.3071A>T (n.3071A>T) c.925A>T (p.Ser309Cys) c.1888A>T (p.Ser630Cys) c.718A>T n.557A>T c.3022A>T (p.Ser1008Cys) c.3013A>T (p.Ser1005Cys) c.3040A>T (p.Ser1014Cys) c.3037A>T (p.Ser1013Cys) c.3019A>T (p.Ser1007Cys) c.2962A>T (p.Ser988Cys) c.2896A>T (p.Ser966Cys) c.1462A>T (p.Ser488Cys) c.814A>T (p.Ser272Cys) c.601A>T (p.Ser201Cys) c.2875A>T (p.Ser959Cys) c.3010A>T (p.Ser1004Cys) c.3016A>T (p.Ser1006Cys) c.2932A>T (p.Ser978Cys) c.2860A>T (p.Ser954Cys) c.2794A>T (p.Ser932Cys) c.2155A>T (p.Ser719Cys) c.2773A>T (p.Ser925Cys) | |
| 9 | g.137813170G>A | CA375793738 | EHMT1 | c.3032G>A (p.Ser1011Asn) c.2918G>A (p.Ser973Asn) c.2939G>A (p.Ser980Asn) c.3072G>A (n.3072G>A) c.926G>A (p.Ser309Asn) c.1889G>A (p.Ser630Asn) c.719G>A n.558G>A c.3023G>A (p.Ser1008Asn) c.3014G>A (p.Ser1005Asn) c.3041G>A (p.Ser1014Asn) c.3038G>A (p.Ser1013Asn) c.3020G>A (p.Ser1007Asn) c.2963G>A (p.Ser988Asn) c.2897G>A (p.Ser966Asn) c.1463G>A (p.Ser488Asn) c.815G>A (p.Ser272Asn) c.602G>A (p.Ser201Asn) c.2876G>A (p.Ser959Asn) c.3011G>A (p.Ser1004Asn) c.3017G>A (p.Ser1006Asn) c.2933G>A (p.Ser978Asn) c.2861G>A (p.Ser954Asn) c.2795G>A (p.Ser932Asn) c.2156G>A (p.Ser719Asn) c.2774G>A (p.Ser925Asn) | |
| 9 | g.137813170G>C | CA375793739 | EHMT1 | c.3032G>C (p.Ser1011Thr) c.2918G>C (p.Ser973Thr) c.2939G>C (p.Ser980Thr) c.3072G>C (n.3072G>C) c.926G>C (p.Ser309Thr) c.1889G>C (p.Ser630Thr) c.719G>C n.558G>C c.3023G>C (p.Ser1008Thr) c.3014G>C (p.Ser1005Thr) c.3041G>C (p.Ser1014Thr) c.3038G>C (p.Ser1013Thr) c.3020G>C (p.Ser1007Thr) c.2963G>C (p.Ser988Thr) c.2897G>C (p.Ser966Thr) c.1463G>C (p.Ser488Thr) c.815G>C (p.Ser272Thr) c.602G>C (p.Ser201Thr) c.2876G>C (p.Ser959Thr) c.3011G>C (p.Ser1004Thr) c.3017G>C (p.Ser1006Thr) c.2933G>C (p.Ser978Thr) c.2861G>C (p.Ser954Thr) c.2795G>C (p.Ser932Thr) c.2156G>C (p.Ser719Thr) c.2774G>C (p.Ser925Thr) | |
| 9 | g.137813170G>T | CA375793740 | EHMT1 | c.3032G>T (p.Ser1011Ile) c.2918G>T (p.Ser973Ile) c.2939G>T (p.Ser980Ile) c.3072G>T (n.3072G>T) c.926G>T (p.Ser309Ile) c.1889G>T (p.Ser630Ile) c.719G>T n.558G>T c.3023G>T (p.Ser1008Ile) c.3014G>T (p.Ser1005Ile) c.3041G>T (p.Ser1014Ile) c.3038G>T (p.Ser1013Ile) c.3020G>T (p.Ser1007Ile) c.2963G>T (p.Ser988Ile) c.2897G>T (p.Ser966Ile) c.1463G>T (p.Ser488Ile) c.815G>T (p.Ser272Ile) c.602G>T (p.Ser201Ile) c.2876G>T (p.Ser959Ile) c.3011G>T (p.Ser1004Ile) c.3017G>T (p.Ser1006Ile) c.2933G>T (p.Ser978Ile) c.2861G>T (p.Ser954Ile) c.2795G>T (p.Ser932Ile) c.2156G>T (p.Ser719Ile) c.2774G>T (p.Ser925Ile) | gnomAD v4 |
| 9 | g.137813171C>A | CA375793741 | EHMT1 | c.3033C>A (p.Ser1011Arg) c.2919C>A (p.Ser973Arg) c.2940C>A (p.Ser980Arg) c.3073C>A (n.3073C>A) c.927C>A (p.Ser309Arg) c.1890C>A (p.Ser630Arg) c.720C>A n.559C>A c.3024C>A (p.Ser1008Arg) c.3015C>A (p.Ser1005Arg) c.3042C>A (p.Ser1014Arg) c.3039C>A (p.Ser1013Arg) c.3021C>A (p.Ser1007Arg) c.2964C>A (p.Ser988Arg) c.2898C>A (p.Ser966Arg) c.1464C>A (p.Ser488Arg) c.816C>A (p.Ser272Arg) c.603C>A (p.Ser201Arg) c.2877C>A (p.Ser959Arg) c.3012C>A (p.Ser1004Arg) c.3018C>A (p.Ser1006Arg) c.2934C>A (p.Ser978Arg) c.2862C>A (p.Ser954Arg) c.2796C>A (p.Ser932Arg) c.2157C>A (p.Ser719Arg) c.2775C>A (p.Ser925Arg) | |
| 9 | g.137813171C>G | CA375793742 | EHMT1 | c.3033C>G (p.Ser1011Arg) c.2919C>G (p.Ser973Arg) c.2940C>G (p.Ser980Arg) c.3073C>G (n.3073C>G) c.927C>G (p.Ser309Arg) c.1890C>G (p.Ser630Arg) c.720C>G n.559C>G c.3024C>G (p.Ser1008Arg) c.3015C>G (p.Ser1005Arg) c.3042C>G (p.Ser1014Arg) c.3039C>G (p.Ser1013Arg) c.3021C>G (p.Ser1007Arg) c.2964C>G (p.Ser988Arg) c.2898C>G (p.Ser966Arg) c.1464C>G (p.Ser488Arg) c.816C>G (p.Ser272Arg) c.603C>G (p.Ser201Arg) c.2877C>G (p.Ser959Arg) c.3012C>G (p.Ser1004Arg) c.3018C>G (p.Ser1006Arg) c.2934C>G (p.Ser978Arg) c.2862C>G (p.Ser954Arg) c.2796C>G (p.Ser932Arg) c.2157C>G (p.Ser719Arg) c.2775C>G (p.Ser925Arg) | |
| 9 | g.137813171C>T | CA468161112 | EHMT1 | c.3033C>T (p.Ser1011=) c.2919C>T (p.Ser973=) c.2940C>T (p.Ser980=) c.3073C>T (n.3073C>T) c.927C>T (p.Ser309=) c.1890C>T (p.Ser630=) c.720C>T n.559C>T c.3024C>T (p.Ser1008=) c.3015C>T (p.Ser1005=) c.3042C>T (p.Ser1014=) c.3039C>T (p.Ser1013=) c.3021C>T (p.Ser1007=) c.2964C>T (p.Ser988=) c.2898C>T (p.Ser966=) c.1464C>T (p.Ser488=) c.816C>T (p.Ser272=) c.603C>T (p.Ser201=) c.2877C>T (p.Ser959=) c.3012C>T (p.Ser1004=) c.3018C>T (p.Ser1006=) c.2934C>T (p.Ser978=) c.2862C>T (p.Ser954=) c.2796C>T (p.Ser932=) c.2157C>T (p.Ser719=) c.2775C>T (p.Ser925=) | gnomAD v4 |
| 9 | g.137813172A>C | CA468161113 | EHMT1 | c.3034A>C (p.Arg1012=) c.2920A>C (p.Arg974=) c.2941A>C (p.Arg981=) c.3074A>C (n.3074A>C) c.928A>C (p.Arg310=) c.1891A>C (p.Arg631=) c.721A>C n.560A>C c.3025A>C (p.Arg1009=) c.3016A>C (p.Arg1006=) c.3043A>C (p.Arg1015=) c.3040A>C (p.Arg1014=) c.3022A>C (p.Arg1008=) c.2965A>C (p.Arg989=) c.2899A>C (p.Arg967=) c.1465A>C (p.Arg489=) c.817A>C (p.Arg273=) c.604A>C (p.Arg202=) c.2878A>C (p.Arg960=) c.3013A>C (p.Arg1005=) c.3019A>C (p.Arg1007=) c.2935A>C (p.Arg979=) c.2863A>C (p.Arg955=) c.2797A>C (p.Arg933=) c.2158A>C (p.Arg720=) c.2776A>C (p.Arg926=) | |
| 9 | g.137813172A>G | CA375793743 | EHMT1 | c.3034A>G (p.Arg1012Gly) c.2920A>G (p.Arg974Gly) c.2941A>G (p.Arg981Gly) c.3074A>G (n.3074A>G) c.928A>G (p.Arg310Gly) c.1891A>G (p.Arg631Gly) c.721A>G n.560A>G c.3025A>G (p.Arg1009Gly) c.3016A>G (p.Arg1006Gly) c.3043A>G (p.Arg1015Gly) c.3040A>G (p.Arg1014Gly) c.3022A>G (p.Arg1008Gly) c.2965A>G (p.Arg989Gly) c.2899A>G (p.Arg967Gly) c.1465A>G (p.Arg489Gly) c.817A>G (p.Arg273Gly) c.604A>G (p.Arg202Gly) c.2878A>G (p.Arg960Gly) c.3013A>G (p.Arg1005Gly) c.3019A>G (p.Arg1007Gly) c.2935A>G (p.Arg979Gly) c.2863A>G (p.Arg955Gly) c.2797A>G (p.Arg933Gly) c.2158A>G (p.Arg720Gly) c.2776A>G (p.Arg926Gly) | |
| 9 | g.137813172A>T | CA375793744 | EHMT1 | c.3034A>T (p.Arg1012Trp) c.2920A>T (p.Arg974Trp) c.2941A>T (p.Arg981Trp) c.3074A>T (n.3074A>T) c.928A>T (p.Arg310Trp) c.1891A>T (p.Arg631Trp) c.721A>T n.560A>T c.3025A>T (p.Arg1009Trp) c.3016A>T (p.Arg1006Trp) c.3043A>T (p.Arg1015Trp) c.3040A>T (p.Arg1014Trp) c.3022A>T (p.Arg1008Trp) c.2965A>T (p.Arg989Trp) c.2899A>T (p.Arg967Trp) c.1465A>T (p.Arg489Trp) c.817A>T (p.Arg273Trp) c.604A>T (p.Arg202Trp) c.2878A>T (p.Arg960Trp) c.3013A>T (p.Arg1005Trp) c.3019A>T (p.Arg1007Trp) c.2935A>T (p.Arg979Trp) c.2863A>T (p.Arg955Trp) c.2797A>T (p.Arg933Trp) c.2158A>T (p.Arg720Trp) c.2776A>T (p.Arg926Trp) | |
| 9 | g.137813173G>A | CA375793745 | EHMT1 | c.3035G>A (p.Arg1012Lys) c.2921G>A (p.Arg974Lys) c.2942G>A (p.Arg981Lys) c.3075G>A (n.3075G>A) c.929G>A (p.Arg310Lys) c.1892G>A (p.Arg631Lys) c.722G>A n.561G>A c.3026G>A (p.Arg1009Lys) c.3017G>A (p.Arg1006Lys) c.3044G>A (p.Arg1015Lys) c.3041G>A (p.Arg1014Lys) c.3023G>A (p.Arg1008Lys) c.2966G>A (p.Arg989Lys) c.2900G>A (p.Arg967Lys) c.1466G>A (p.Arg489Lys) c.818G>A (p.Arg273Lys) c.605G>A (p.Arg202Lys) c.2879G>A (p.Arg960Lys) c.3014G>A (p.Arg1005Lys) c.3020G>A (p.Arg1007Lys) c.2936G>A (p.Arg979Lys) c.2864G>A (p.Arg955Lys) c.2798G>A (p.Arg933Lys) c.2159G>A (p.Arg720Lys) c.2777G>A (p.Arg926Lys) | |
| 9 | g.137813173G>C | CA375793746 | EHMT1 | c.3035G>C (p.Arg1012Thr) c.2921G>C (p.Arg974Thr) c.2942G>C (p.Arg981Thr) c.3075G>C (n.3075G>C) c.929G>C (p.Arg310Thr) c.1892G>C (p.Arg631Thr) c.722G>C n.561G>C c.3026G>C (p.Arg1009Thr) c.3017G>C (p.Arg1006Thr) c.3044G>C (p.Arg1015Thr) c.3041G>C (p.Arg1014Thr) c.3023G>C (p.Arg1008Thr) c.2966G>C (p.Arg989Thr) c.2900G>C (p.Arg967Thr) c.1466G>C (p.Arg489Thr) c.818G>C (p.Arg273Thr) c.605G>C (p.Arg202Thr) c.2879G>C (p.Arg960Thr) c.3014G>C (p.Arg1005Thr) c.3020G>C (p.Arg1007Thr) c.2936G>C (p.Arg979Thr) c.2864G>C (p.Arg955Thr) c.2798G>C (p.Arg933Thr) c.2159G>C (p.Arg720Thr) c.2777G>C (p.Arg926Thr) | |
| 9 | g.137813173G>T | CA375793747 | EHMT1 | c.3035G>T (p.Arg1012Met) c.2921G>T (p.Arg974Met) c.2942G>T (p.Arg981Met) c.3075G>T (n.3075G>T) c.929G>T (p.Arg310Met) c.1892G>T (p.Arg631Met) c.722G>T n.561G>T c.3026G>T (p.Arg1009Met) c.3017G>T (p.Arg1006Met) c.3044G>T (p.Arg1015Met) c.3041G>T (p.Arg1014Met) c.3023G>T (p.Arg1008Met) c.2966G>T (p.Arg989Met) c.2900G>T (p.Arg967Met) c.1466G>T (p.Arg489Met) c.818G>T (p.Arg273Met) c.605G>T (p.Arg202Met) c.2879G>T (p.Arg960Met) c.3014G>T (p.Arg1005Met) c.3020G>T (p.Arg1007Met) c.2936G>T (p.Arg979Met) c.2864G>T (p.Arg955Met) c.2798G>T (p.Arg933Met) c.2159G>T (p.Arg720Met) c.2777G>T (p.Arg926Met) | gnomAD v4 |
| 9 | g.137813174G>A | CA375793748 | EHMT1 | c.3035+1G>A (n.3035+1G>A) c.2921+1G>A (n.2921+1G>A) c.2942+1G>A (n.2942+1G>A) c.3075+1G>A (n.3075+1G>A) c.929+1G>A (n.929+1G>A) c.1892+1G>A (n.1892+1G>A) c.722+1G>A n.561+1G>A c.3026+1G>A (n.3026+1G>A) c.3017+1G>A (n.3017+1G>A) c.3044+1G>A (n.3044+1G>A) c.3041+1G>A (n.3041+1G>A) c.3023+1G>A (n.3023+1G>A) c.2966+1G>A (n.2966+1G>A) c.2900+1G>A (n.2900+1G>A) c.1466+1G>A (n.1466+1G>A) c.818+1G>A (n.818+1G>A) c.605+1G>A (n.605+1G>A) c.2879+1G>A (n.2879+1G>A) c.3014+1G>A (n.3014+1G>A) c.3020+1G>A (n.3020+1G>A) c.2936+1G>A (n.2936+1G>A) c.2864+1G>A (n.2864+1G>A) c.2798+1G>A (n.2798+1G>A) c.2159+1G>A (n.2159+1G>A) c.2777+1G>A (n.2777+1G>A) | gnomAD v4 |
| 9 | g.137813174G>C | CA375793749 | EHMT1 | c.3035+1G>C (n.3035+1G>C) c.2921+1G>C (n.2921+1G>C) c.2942+1G>C (n.2942+1G>C) c.3075+1G>C (n.3075+1G>C) c.929+1G>C (n.929+1G>C) c.1892+1G>C (n.1892+1G>C) c.722+1G>C n.561+1G>C c.3026+1G>C (n.3026+1G>C) c.3017+1G>C (n.3017+1G>C) c.3044+1G>C (n.3044+1G>C) c.3041+1G>C (n.3041+1G>C) c.3023+1G>C (n.3023+1G>C) c.2966+1G>C (n.2966+1G>C) c.2900+1G>C (n.2900+1G>C) c.1466+1G>C (n.1466+1G>C) c.818+1G>C (n.818+1G>C) c.605+1G>C (n.605+1G>C) c.2879+1G>C (n.2879+1G>C) c.3014+1G>C (n.3014+1G>C) c.3020+1G>C (n.3020+1G>C) c.2936+1G>C (n.2936+1G>C) c.2864+1G>C (n.2864+1G>C) c.2798+1G>C (n.2798+1G>C) c.2159+1G>C (n.2159+1G>C) c.2777+1G>C (n.2777+1G>C) | |
| 9 | g.137813174G>T | CA375793750 | EHMT1 | c.3035+1G>T (n.3035+1G>T) c.2921+1G>T (n.2921+1G>T) c.2942+1G>T (n.2942+1G>T) c.3075+1G>T (n.3075+1G>T) c.929+1G>T (n.929+1G>T) c.1892+1G>T (n.1892+1G>T) c.722+1G>T n.561+1G>T c.3026+1G>T (n.3026+1G>T) c.3017+1G>T (n.3017+1G>T) c.3044+1G>T (n.3044+1G>T) c.3041+1G>T (n.3041+1G>T) c.3023+1G>T (n.3023+1G>T) c.2966+1G>T (n.2966+1G>T) c.2900+1G>T (n.2900+1G>T) c.1466+1G>T (n.1466+1G>T) c.818+1G>T (n.818+1G>T) c.605+1G>T (n.605+1G>T) c.2879+1G>T (n.2879+1G>T) c.3014+1G>T (n.3014+1G>T) c.3020+1G>T (n.3020+1G>T) c.2936+1G>T (n.2936+1G>T) c.2864+1G>T (n.2864+1G>T) c.2798+1G>T (n.2798+1G>T) c.2159+1G>T (n.2159+1G>T) c.2777+1G>T (n.2777+1G>T) | gnomAD v4 |
| 9 | g.137813175T>A | CA375793752 | EHMT1 | c.3035+2T>A (n.3035+2T>A) c.2921+2T>A (n.2921+2T>A) c.2942+2T>A (n.2942+2T>A) c.3075+2T>A (n.3075+2T>A) c.929+2T>A (n.929+2T>A) c.1892+2T>A (n.1892+2T>A) c.722+2T>A n.561+2T>A c.3026+2T>A (n.3026+2T>A) c.3017+2T>A (n.3017+2T>A) c.3044+2T>A (n.3044+2T>A) c.3041+2T>A (n.3041+2T>A) c.3023+2T>A (n.3023+2T>A) c.2966+2T>A (n.2966+2T>A) c.2900+2T>A (n.2900+2T>A) c.1466+2T>A (n.1466+2T>A) c.818+2T>A (n.818+2T>A) c.605+2T>A (n.605+2T>A) c.2879+2T>A (n.2879+2T>A) c.3014+2T>A (n.3014+2T>A) c.3020+2T>A (n.3020+2T>A) c.2936+2T>A (n.2936+2T>A) c.2864+2T>A (n.2864+2T>A) c.2798+2T>A (n.2798+2T>A) c.2159+2T>A (n.2159+2T>A) c.2777+2T>A (n.2777+2T>A) | |
| 9 | g.137813175T>C | CA375793753 | EHMT1 | c.3035+2T>C (n.3035+2T>C) c.2921+2T>C (n.2921+2T>C) c.2942+2T>C (n.2942+2T>C) c.3075+2T>C (n.3075+2T>C) c.929+2T>C (n.929+2T>C) c.1892+2T>C (n.1892+2T>C) c.722+2T>C n.561+2T>C c.3026+2T>C (n.3026+2T>C) c.3017+2T>C (n.3017+2T>C) c.3044+2T>C (n.3044+2T>C) c.3041+2T>C (n.3041+2T>C) c.3023+2T>C (n.3023+2T>C) c.2966+2T>C (n.2966+2T>C) c.2900+2T>C (n.2900+2T>C) c.1466+2T>C (n.1466+2T>C) c.818+2T>C (n.818+2T>C) c.605+2T>C (n.605+2T>C) c.2879+2T>C (n.2879+2T>C) c.3014+2T>C (n.3014+2T>C) c.3020+2T>C (n.3020+2T>C) c.2936+2T>C (n.2936+2T>C) c.2864+2T>C (n.2864+2T>C) c.2798+2T>C (n.2798+2T>C) c.2159+2T>C (n.2159+2T>C) c.2777+2T>C (n.2777+2T>C) | |
| 9 | g.137813175T>G | CA375793751 | EHMT1 | c.3035+2T>G (n.3035+2T>G) c.2921+2T>G (n.2921+2T>G) c.2942+2T>G (n.2942+2T>G) c.3075+2T>G (n.3075+2T>G) c.929+2T>G (n.929+2T>G) c.1892+2T>G (n.1892+2T>G) c.722+2T>G n.561+2T>G c.3026+2T>G (n.3026+2T>G) c.3017+2T>G (n.3017+2T>G) c.3044+2T>G (n.3044+2T>G) c.3041+2T>G (n.3041+2T>G) c.3023+2T>G (n.3023+2T>G) c.2966+2T>G (n.2966+2T>G) c.2900+2T>G (n.2900+2T>G) c.1466+2T>G (n.1466+2T>G) c.818+2T>G (n.818+2T>G) c.605+2T>G (n.605+2T>G) c.2879+2T>G (n.2879+2T>G) c.3014+2T>G (n.3014+2T>G) c.3020+2T>G (n.3020+2T>G) c.2936+2T>G (n.2936+2T>G) c.2864+2T>G (n.2864+2T>G) c.2798+2T>G (n.2798+2T>G) c.2159+2T>G (n.2159+2T>G) c.2777+2T>G (n.2777+2T>G) | |
| 9 | g.137813175_137813176insA | CA2786319605 | EHMT1 | c.3035+2_3035+3insA (n.3035+2_3035+3insA) c.2921+2_2921+3insA (n.2921+2_2921+3insA) c.2942+2_2942+3insA (n.2942+2_2942+3insA) c.3075+2_3075+3insA (n.3075+2_3075+3insA) c.929+2_929+3insA (n.929+2_929+3insA) c.1892+2_1892+3insA (n.1892+2_1892+3insA) c.722+2_722+3insA n.561+2_561+3insA c.3026+2_3026+3insA (n.3026+2_3026+3insA) c.3017+2_3017+3insA (n.3017+2_3017+3insA) c.3044+2_3044+3insA (n.3044+2_3044+3insA) c.3041+2_3041+3insA (n.3041+2_3041+3insA) c.3023+2_3023+3insA (n.3023+2_3023+3insA) c.2966+2_2966+3insA (n.2966+2_2966+3insA) c.2900+2_2900+3insA (n.2900+2_2900+3insA) c.1466+2_1466+3insA (n.1466+2_1466+3insA) c.818+2_818+3insA (n.818+2_818+3insA) c.605+2_605+3insA (n.605+2_605+3insA) c.2879+2_2879+3insA (n.2879+2_2879+3insA) c.3014+2_3014+3insA (n.3014+2_3014+3insA) c.3020+2_3020+3insA (n.3020+2_3020+3insA) c.2936+2_2936+3insA (n.2936+2_2936+3insA) c.2864+2_2864+3insA (n.2864+2_2864+3insA) c.2798+2_2798+3insA (n.2798+2_2798+3insA) c.2159+2_2159+3insA (n.2159+2_2159+3insA) c.2777+2_2777+3insA (n.2777+2_2777+3insA) | |
| 9 | g.137813176G>A | CA5375130 | EHMT1 | c.3035+3G>A (n.3035+3G>A) c.2921+3G>A (n.2921+3G>A) c.2942+3G>A (n.2942+3G>A) c.3075+3G>A (n.3075+3G>A) c.929+3G>A (n.929+3G>A) c.1892+3G>A (n.1892+3G>A) c.722+3G>A n.561+3G>A c.3026+3G>A (n.3026+3G>A) c.3017+3G>A (n.3017+3G>A) c.3044+3G>A (n.3044+3G>A) c.3041+3G>A (n.3041+3G>A) c.3023+3G>A (n.3023+3G>A) c.2966+3G>A (n.2966+3G>A) c.2900+3G>A (n.2900+3G>A) c.1466+3G>A (n.1466+3G>A) c.818+3G>A (n.818+3G>A) c.605+3G>A (n.605+3G>A) c.2879+3G>A (n.2879+3G>A) c.3014+3G>A (n.3014+3G>A) c.3020+3G>A (n.3020+3G>A) c.2936+3G>A (n.2936+3G>A) c.2864+3G>A (n.2864+3G>A) c.2798+3G>A (n.2798+3G>A) c.2159+3G>A (n.2159+3G>A) c.2777+3G>A (n.2777+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813176G= | CA1884685738 | EHMT1 | c.3035+3G= (n.3035+3G=) c.2921+3G= (n.2921+3G=) c.2942+3G= (n.2942+3G=) c.3075+3G= (n.3075+3G=) c.929+3G= (n.929+3G=) c.1892+3G= (n.1892+3G=) c.722+3G= n.561+3G= c.3026+3G= (n.3026+3G=) c.3017+3G= (n.3017+3G=) c.3044+3G= (n.3044+3G=) c.3041+3G= (n.3041+3G=) c.3023+3G= (n.3023+3G=) c.2966+3G= (n.2966+3G=) c.2900+3G= (n.2900+3G=) c.1466+3G= (n.1466+3G=) c.818+3G= (n.818+3G=) c.605+3G= (n.605+3G=) c.2879+3G= (n.2879+3G=) c.3014+3G= (n.3014+3G=) c.3020+3G= (n.3020+3G=) c.2936+3G= (n.2936+3G=) c.2864+3G= (n.2864+3G=) c.2798+3G= (n.2798+3G=) c.2159+3G= (n.2159+3G=) c.2777+3G= (n.2777+3G=) | |
| 9 | g.137813176G>T | CA2692890678 | EHMT1 | c.3035+3G>T (n.3035+3G>T) c.2921+3G>T (n.2921+3G>T) c.2942+3G>T (n.2942+3G>T) c.3075+3G>T (n.3075+3G>T) c.929+3G>T (n.929+3G>T) c.1892+3G>T (n.1892+3G>T) c.722+3G>T n.561+3G>T c.3026+3G>T (n.3026+3G>T) c.3017+3G>T (n.3017+3G>T) c.3044+3G>T (n.3044+3G>T) c.3041+3G>T (n.3041+3G>T) c.3023+3G>T (n.3023+3G>T) c.2966+3G>T (n.2966+3G>T) c.2900+3G>T (n.2900+3G>T) c.1466+3G>T (n.1466+3G>T) c.818+3G>T (n.818+3G>T) c.605+3G>T (n.605+3G>T) c.2879+3G>T (n.2879+3G>T) c.3014+3G>T (n.3014+3G>T) c.3020+3G>T (n.3020+3G>T) c.2936+3G>T (n.2936+3G>T) c.2864+3G>T (n.2864+3G>T) c.2798+3G>T (n.2798+3G>T) c.2159+3G>T (n.2159+3G>T) c.2777+3G>T (n.2777+3G>T) | gnomAD v4 |
| 9 | g.137813178G>T | CA2692890679 | EHMT1 | c.3035+5G>T (n.3035+5G>T) c.2921+5G>T (n.2921+5G>T) c.2942+5G>T (n.2942+5G>T) c.3075+5G>T (n.3075+5G>T) c.929+5G>T (n.929+5G>T) c.1892+5G>T (n.1892+5G>T) c.722+5G>T n.561+5G>T c.3026+5G>T (n.3026+5G>T) c.3017+5G>T (n.3017+5G>T) c.3044+5G>T (n.3044+5G>T) c.3041+5G>T (n.3041+5G>T) c.3023+5G>T (n.3023+5G>T) c.2966+5G>T (n.2966+5G>T) c.2900+5G>T (n.2900+5G>T) c.1466+5G>T (n.1466+5G>T) c.818+5G>T (n.818+5G>T) c.605+5G>T (n.605+5G>T) c.2879+5G>T (n.2879+5G>T) c.3014+5G>T (n.3014+5G>T) c.3020+5G>T (n.3020+5G>T) c.2936+5G>T (n.2936+5G>T) c.2864+5G>T (n.2864+5G>T) c.2798+5G>T (n.2798+5G>T) c.2159+5G>T (n.2159+5G>T) c.2777+5G>T (n.2777+5G>T) | gnomAD v4 |
| 9 | g.137813179C= | CA1884685739 | EHMT1 | c.3035+6C= (n.3035+6C=) c.2921+6C= (n.2921+6C=) c.2942+6C= (n.2942+6C=) c.3075+6C= (n.3075+6C=) c.929+6C= (n.929+6C=) c.1892+6C= (n.1892+6C=) c.722+6C= n.561+6C= c.3026+6C= (n.3026+6C=) c.3017+6C= (n.3017+6C=) c.3044+6C= (n.3044+6C=) c.3041+6C= (n.3041+6C=) c.3023+6C= (n.3023+6C=) c.2966+6C= (n.2966+6C=) c.2900+6C= (n.2900+6C=) c.1466+6C= (n.1466+6C=) c.818+6C= (n.818+6C=) c.605+6C= (n.605+6C=) c.2879+6C= (n.2879+6C=) c.3014+6C= (n.3014+6C=) c.3020+6C= (n.3020+6C=) c.2936+6C= (n.2936+6C=) c.2864+6C= (n.2864+6C=) c.2798+6C= (n.2798+6C=) c.2159+6C= (n.2159+6C=) c.2777+6C= (n.2777+6C=) | |
| 9 | g.137813179C>G | CA5375131 | EHMT1 | c.3035+6C>G (n.3035+6C>G) c.2921+6C>G (n.2921+6C>G) c.2942+6C>G (n.2942+6C>G) c.3075+6C>G (n.3075+6C>G) c.929+6C>G (n.929+6C>G) c.1892+6C>G (n.1892+6C>G) c.722+6C>G n.561+6C>G c.3026+6C>G (n.3026+6C>G) c.3017+6C>G (n.3017+6C>G) c.3044+6C>G (n.3044+6C>G) c.3041+6C>G (n.3041+6C>G) c.3023+6C>G (n.3023+6C>G) c.2966+6C>G (n.2966+6C>G) c.2900+6C>G (n.2900+6C>G) c.1466+6C>G (n.1466+6C>G) c.818+6C>G (n.818+6C>G) c.605+6C>G (n.605+6C>G) c.2879+6C>G (n.2879+6C>G) c.3014+6C>G (n.3014+6C>G) c.3020+6C>G (n.3020+6C>G) c.2936+6C>G (n.2936+6C>G) c.2864+6C>G (n.2864+6C>G) c.2798+6C>G (n.2798+6C>G) c.2159+6C>G (n.2159+6C>G) c.2777+6C>G (n.2777+6C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137813179C>T | CA2692890680 | EHMT1 | c.3035+6C>T (n.3035+6C>T) c.2921+6C>T (n.2921+6C>T) c.2942+6C>T (n.2942+6C>T) c.3075+6C>T (n.3075+6C>T) c.929+6C>T (n.929+6C>T) c.1892+6C>T (n.1892+6C>T) c.722+6C>T n.561+6C>T c.3026+6C>T (n.3026+6C>T) c.3017+6C>T (n.3017+6C>T) c.3044+6C>T (n.3044+6C>T) c.3041+6C>T (n.3041+6C>T) c.3023+6C>T (n.3023+6C>T) c.2966+6C>T (n.2966+6C>T) c.2900+6C>T (n.2900+6C>T) c.1466+6C>T (n.1466+6C>T) c.818+6C>T (n.818+6C>T) c.605+6C>T (n.605+6C>T) c.2879+6C>T (n.2879+6C>T) c.3014+6C>T (n.3014+6C>T) c.3020+6C>T (n.3020+6C>T) c.2936+6C>T (n.2936+6C>T) c.2864+6C>T (n.2864+6C>T) c.2798+6C>T (n.2798+6C>T) c.2159+6C>T (n.2159+6C>T) c.2777+6C>T (n.2777+6C>T) | gnomAD v4 |
| 9 | g.137813181del | CA2692890681 | EHMT1 | c.3035+8del (n.3035+8del) c.2921+8del (n.2921+8del) c.2942+8del (n.2942+8del) c.3075+8del (n.3075+8del) c.929+8del (n.929+8del) c.1892+8del (n.1892+8del) c.722+8del n.561+8del c.3026+8del (n.3026+8del) c.3017+8del (n.3017+8del) c.3044+8del (n.3044+8del) c.3041+8del (n.3041+8del) c.3023+8del (n.3023+8del) c.2966+8del (n.2966+8del) c.2900+8del (n.2900+8del) c.1466+8del (n.1466+8del) c.818+8del (n.818+8del) c.605+8del (n.605+8del) c.2879+8del (n.2879+8del) c.3014+8del (n.3014+8del) c.3020+8del (n.3020+8del) c.2936+8del (n.2936+8del) c.2864+8del (n.2864+8del) c.2798+8del (n.2798+8del) c.2159+8del (n.2159+8del) c.2777+8del (n.2777+8del) | gnomAD v4 |
| 9 | g.137813180C>A | CA2692890682 | EHMT1 | c.3035+7C>A (n.3035+7C>A) c.2921+7C>A (n.2921+7C>A) c.2942+7C>A (n.2942+7C>A) c.3075+7C>A (n.3075+7C>A) c.929+7C>A (n.929+7C>A) c.1892+7C>A (n.1892+7C>A) c.722+7C>A n.561+7C>A c.3026+7C>A (n.3026+7C>A) c.3017+7C>A (n.3017+7C>A) c.3044+7C>A (n.3044+7C>A) c.3041+7C>A (n.3041+7C>A) c.3023+7C>A (n.3023+7C>A) c.2966+7C>A (n.2966+7C>A) c.2900+7C>A (n.2900+7C>A) c.1466+7C>A (n.1466+7C>A) c.818+7C>A (n.818+7C>A) c.605+7C>A (n.605+7C>A) c.2879+7C>A (n.2879+7C>A) c.3014+7C>A (n.3014+7C>A) c.3020+7C>A (n.3020+7C>A) c.2936+7C>A (n.2936+7C>A) c.2864+7C>A (n.2864+7C>A) c.2798+7C>A (n.2798+7C>A) c.2159+7C>A (n.2159+7C>A) c.2777+7C>A (n.2777+7C>A) | gnomAD v4 |
| 9 | g.137813182A= | CA1884685740 | EHMT1 | c.3035+9A= (n.3035+9A=) c.2921+9A= (n.2921+9A=) c.2942+9A= (n.2942+9A=) c.3075+9A= (n.3075+9A=) c.929+9A= (n.929+9A=) c.1892+9A= (n.1892+9A=) c.722+9A= n.561+9A= c.3026+9A= (n.3026+9A=) c.3017+9A= (n.3017+9A=) c.3044+9A= (n.3044+9A=) c.3041+9A= (n.3041+9A=) c.3023+9A= (n.3023+9A=) c.2966+9A= (n.2966+9A=) c.2900+9A= (n.2900+9A=) c.1466+9A= (n.1466+9A=) c.818+9A= (n.818+9A=) c.605+9A= (n.605+9A=) c.2879+9A= (n.2879+9A=) c.3014+9A= (n.3014+9A=) c.3020+9A= (n.3020+9A=) c.2936+9A= (n.2936+9A=) c.2864+9A= (n.2864+9A=) c.2798+9A= (n.2798+9A=) c.2159+9A= (n.2159+9A=) c.2777+9A= (n.2777+9A=) | |
| 9 | g.137813182A>G | CA1884685741 | EHMT1 | c.3035+9A>G (n.3035+9A>G) c.2921+9A>G (n.2921+9A>G) c.2942+9A>G (n.2942+9A>G) c.3075+9A>G (n.3075+9A>G) c.929+9A>G (n.929+9A>G) c.1892+9A>G (n.1892+9A>G) c.722+9A>G n.561+9A>G c.3026+9A>G (n.3026+9A>G) c.3017+9A>G (n.3017+9A>G) c.3044+9A>G (n.3044+9A>G) c.3041+9A>G (n.3041+9A>G) c.3023+9A>G (n.3023+9A>G) c.2966+9A>G (n.2966+9A>G) c.2900+9A>G (n.2900+9A>G) c.1466+9A>G (n.1466+9A>G) c.818+9A>G (n.818+9A>G) c.605+9A>G (n.605+9A>G) c.2879+9A>G (n.2879+9A>G) c.3014+9A>G (n.3014+9A>G) c.3020+9A>G (n.3020+9A>G) c.2936+9A>G (n.2936+9A>G) c.2864+9A>G (n.2864+9A>G) c.2798+9A>G (n.2798+9A>G) c.2159+9A>G (n.2159+9A>G) c.2777+9A>G (n.2777+9A>G) | dbSNP gnomAD v4 |
| 9 | g.137813183G>T | CA2692890683 | EHMT1 | c.3035+10G>T (n.3035+10G>T) c.2921+10G>T (n.2921+10G>T) c.2942+10G>T (n.2942+10G>T) c.3075+10G>T (n.3075+10G>T) c.929+10G>T (n.929+10G>T) c.1892+10G>T (n.1892+10G>T) c.722+10G>T n.561+10G>T c.3026+10G>T (n.3026+10G>T) c.3017+10G>T (n.3017+10G>T) c.3044+10G>T (n.3044+10G>T) c.3041+10G>T (n.3041+10G>T) c.3023+10G>T (n.3023+10G>T) c.2966+10G>T (n.2966+10G>T) c.2900+10G>T (n.2900+10G>T) c.1466+10G>T (n.1466+10G>T) c.818+10G>T (n.818+10G>T) c.605+10G>T (n.605+10G>T) c.2879+10G>T (n.2879+10G>T) c.3014+10G>T (n.3014+10G>T) c.3020+10G>T (n.3020+10G>T) c.2936+10G>T (n.2936+10G>T) c.2864+10G>T (n.2864+10G>T) c.2798+10G>T (n.2798+10G>T) c.2159+10G>T (n.2159+10G>T) c.2777+10G>T (n.2777+10G>T) | gnomAD v4 |
| 9 | g.137813184C>A | CA2692890684 | EHMT1 | c.3035+11C>A (n.3035+11C>A) c.2921+11C>A (n.2921+11C>A) c.2942+11C>A (n.2942+11C>A) c.3075+11C>A (n.3075+11C>A) c.929+11C>A (n.929+11C>A) c.1892+11C>A (n.1892+11C>A) c.722+11C>A n.561+11C>A c.3026+11C>A (n.3026+11C>A) c.3017+11C>A (n.3017+11C>A) c.3044+11C>A (n.3044+11C>A) c.3041+11C>A (n.3041+11C>A) c.3023+11C>A (n.3023+11C>A) c.2966+11C>A (n.2966+11C>A) c.2900+11C>A (n.2900+11C>A) c.1466+11C>A (n.1466+11C>A) c.818+11C>A (n.818+11C>A) c.605+11C>A (n.605+11C>A) c.2879+11C>A (n.2879+11C>A) c.3014+11C>A (n.3014+11C>A) c.3020+11C>A (n.3020+11C>A) c.2936+11C>A (n.2936+11C>A) c.2864+11C>A (n.2864+11C>A) c.2798+11C>A (n.2798+11C>A) c.2159+11C>A (n.2159+11C>A) c.2777+11C>A (n.2777+11C>A) | gnomAD v4 |
| 9 | g.137813184C= | CA1884685742 | EHMT1 | c.3035+11C= (n.3035+11C=) c.2921+11C= (n.2921+11C=) c.2942+11C= (n.2942+11C=) c.3075+11C= (n.3075+11C=) c.929+11C= (n.929+11C=) c.1892+11C= (n.1892+11C=) c.722+11C= n.561+11C= c.3026+11C= (n.3026+11C=) c.3017+11C= (n.3017+11C=) c.3044+11C= (n.3044+11C=) c.3041+11C= (n.3041+11C=) c.3023+11C= (n.3023+11C=) c.2966+11C= (n.2966+11C=) c.2900+11C= (n.2900+11C=) c.1466+11C= (n.1466+11C=) c.818+11C= (n.818+11C=) c.605+11C= (n.605+11C=) c.2879+11C= (n.2879+11C=) c.3014+11C= (n.3014+11C=) c.3020+11C= (n.3020+11C=) c.2936+11C= (n.2936+11C=) c.2864+11C= (n.2864+11C=) c.2798+11C= (n.2798+11C=) c.2159+11C= (n.2159+11C=) c.2777+11C= (n.2777+11C=) | |
| 9 | g.137813184C>G | CA5375132 | EHMT1 | c.3035+11C>G (n.3035+11C>G) c.2921+11C>G (n.2921+11C>G) c.2942+11C>G (n.2942+11C>G) c.3075+11C>G (n.3075+11C>G) c.929+11C>G (n.929+11C>G) c.1892+11C>G (n.1892+11C>G) c.722+11C>G n.561+11C>G c.3026+11C>G (n.3026+11C>G) c.3017+11C>G (n.3017+11C>G) c.3044+11C>G (n.3044+11C>G) c.3041+11C>G (n.3041+11C>G) c.3023+11C>G (n.3023+11C>G) c.2966+11C>G (n.2966+11C>G) c.2900+11C>G (n.2900+11C>G) c.1466+11C>G (n.1466+11C>G) c.818+11C>G (n.818+11C>G) c.605+11C>G (n.605+11C>G) c.2879+11C>G (n.2879+11C>G) c.3014+11C>G (n.3014+11C>G) c.3020+11C>G (n.3020+11C>G) c.2936+11C>G (n.2936+11C>G) c.2864+11C>G (n.2864+11C>G) c.2798+11C>G (n.2798+11C>G) c.2159+11C>G (n.2159+11C>G) c.2777+11C>G (n.2777+11C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813184C>T | CA5375133 | EHMT1 | c.3035+11C>T (n.3035+11C>T) c.2921+11C>T (n.2921+11C>T) c.2942+11C>T (n.2942+11C>T) c.3075+11C>T (n.3075+11C>T) c.929+11C>T (n.929+11C>T) c.1892+11C>T (n.1892+11C>T) c.722+11C>T n.561+11C>T c.3026+11C>T (n.3026+11C>T) c.3017+11C>T (n.3017+11C>T) c.3044+11C>T (n.3044+11C>T) c.3041+11C>T (n.3041+11C>T) c.3023+11C>T (n.3023+11C>T) c.2966+11C>T (n.2966+11C>T) c.2900+11C>T (n.2900+11C>T) c.1466+11C>T (n.1466+11C>T) c.818+11C>T (n.818+11C>T) c.605+11C>T (n.605+11C>T) c.2879+11C>T (n.2879+11C>T) c.3014+11C>T (n.3014+11C>T) c.3020+11C>T (n.3020+11C>T) c.2936+11C>T (n.2936+11C>T) c.2864+11C>T (n.2864+11C>T) c.2798+11C>T (n.2798+11C>T) c.2159+11C>T (n.2159+11C>T) c.2777+11C>T (n.2777+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137813185C>A | CA2692890685 | EHMT1 | c.3035+12C>A (n.3035+12C>A) c.2921+12C>A (n.2921+12C>A) c.2942+12C>A (n.2942+12C>A) c.3075+12C>A (n.3075+12C>A) c.929+12C>A (n.929+12C>A) c.1892+12C>A (n.1892+12C>A) c.722+12C>A n.561+12C>A c.3026+12C>A (n.3026+12C>A) c.3017+12C>A (n.3017+12C>A) c.3044+12C>A (n.3044+12C>A) c.3041+12C>A (n.3041+12C>A) c.3023+12C>A (n.3023+12C>A) c.2966+12C>A (n.2966+12C>A) c.2900+12C>A (n.2900+12C>A) c.1466+12C>A (n.1466+12C>A) c.818+12C>A (n.818+12C>A) c.605+12C>A (n.605+12C>A) c.2879+12C>A (n.2879+12C>A) c.3014+12C>A (n.3014+12C>A) c.3020+12C>A (n.3020+12C>A) c.2936+12C>A (n.2936+12C>A) c.2864+12C>A (n.2864+12C>A) c.2798+12C>A (n.2798+12C>A) c.2159+12C>A (n.2159+12C>A) c.2777+12C>A (n.2777+12C>A) | gnomAD v4 |
| 9 | g.137813185C>T | CA2579536497 | EHMT1 | c.3035+12C>T (n.3035+12C>T) c.2921+12C>T (n.2921+12C>T) c.2942+12C>T (n.2942+12C>T) c.3075+12C>T (n.3075+12C>T) c.929+12C>T (n.929+12C>T) c.1892+12C>T (n.1892+12C>T) c.722+12C>T n.561+12C>T c.3026+12C>T (n.3026+12C>T) c.3017+12C>T (n.3017+12C>T) c.3044+12C>T (n.3044+12C>T) c.3041+12C>T (n.3041+12C>T) c.3023+12C>T (n.3023+12C>T) c.2966+12C>T (n.2966+12C>T) c.2900+12C>T (n.2900+12C>T) c.1466+12C>T (n.1466+12C>T) c.818+12C>T (n.818+12C>T) c.605+12C>T (n.605+12C>T) c.2879+12C>T (n.2879+12C>T) c.3014+12C>T (n.3014+12C>T) c.3020+12C>T (n.3020+12C>T) c.2936+12C>T (n.2936+12C>T) c.2864+12C>T (n.2864+12C>T) c.2798+12C>T (n.2798+12C>T) c.2159+12C>T (n.2159+12C>T) c.2777+12C>T (n.2777+12C>T) | gnomAD v4 |
| 9 | g.137813186C>G | CA2692890686 | EHMT1 | c.3035+13C>G (n.3035+13C>G) c.2921+13C>G (n.2921+13C>G) c.2942+13C>G (n.2942+13C>G) c.3075+13C>G (n.3075+13C>G) c.929+13C>G (n.929+13C>G) c.1892+13C>G (n.1892+13C>G) c.722+13C>G n.561+13C>G c.3026+13C>G (n.3026+13C>G) c.3017+13C>G (n.3017+13C>G) c.3044+13C>G (n.3044+13C>G) c.3041+13C>G (n.3041+13C>G) c.3023+13C>G (n.3023+13C>G) c.2966+13C>G (n.2966+13C>G) c.2900+13C>G (n.2900+13C>G) c.1466+13C>G (n.1466+13C>G) c.818+13C>G (n.818+13C>G) c.605+13C>G (n.605+13C>G) c.2879+13C>G (n.2879+13C>G) c.3014+13C>G (n.3014+13C>G) c.3020+13C>G (n.3020+13C>G) c.2936+13C>G (n.2936+13C>G) c.2864+13C>G (n.2864+13C>G) c.2798+13C>G (n.2798+13C>G) c.2159+13C>G (n.2159+13C>G) c.2777+13C>G (n.2777+13C>G) | ClinVar gnomAD v4 |
| 9 | g.137813186C>T | CA2579536498 | EHMT1 | c.3035+13C>T (n.3035+13C>T) c.2921+13C>T (n.2921+13C>T) c.2942+13C>T (n.2942+13C>T) c.3075+13C>T (n.3075+13C>T) c.929+13C>T (n.929+13C>T) c.1892+13C>T (n.1892+13C>T) c.722+13C>T n.561+13C>T c.3026+13C>T (n.3026+13C>T) c.3017+13C>T (n.3017+13C>T) c.3044+13C>T (n.3044+13C>T) c.3041+13C>T (n.3041+13C>T) c.3023+13C>T (n.3023+13C>T) c.2966+13C>T (n.2966+13C>T) c.2900+13C>T (n.2900+13C>T) c.1466+13C>T (n.1466+13C>T) c.818+13C>T (n.818+13C>T) c.605+13C>T (n.605+13C>T) c.2879+13C>T (n.2879+13C>T) c.3014+13C>T (n.3014+13C>T) c.3020+13C>T (n.3020+13C>T) c.2936+13C>T (n.2936+13C>T) c.2864+13C>T (n.2864+13C>T) c.2798+13C>T (n.2798+13C>T) c.2159+13C>T (n.2159+13C>T) c.2777+13C>T (n.2777+13C>T) | gnomAD v4 |
| 9 | g.137813188A= | CA1884685743 | EHMT1 | c.3035+15A= (n.3035+15A=) c.2921+15A= (n.2921+15A=) c.2942+15A= (n.2942+15A=) c.3075+15A= (n.3075+15A=) c.929+15A= (n.929+15A=) c.1892+15A= (n.1892+15A=) c.722+15A= n.561+15A= c.3026+15A= (n.3026+15A=) c.3017+15A= (n.3017+15A=) c.3044+15A= (n.3044+15A=) c.3041+15A= (n.3041+15A=) c.3023+15A= (n.3023+15A=) c.2966+15A= (n.2966+15A=) c.2900+15A= (n.2900+15A=) c.1466+15A= (n.1466+15A=) c.818+15A= (n.818+15A=) c.605+15A= (n.605+15A=) c.2879+15A= (n.2879+15A=) c.3014+15A= (n.3014+15A=) c.3020+15A= (n.3020+15A=) c.2936+15A= (n.2936+15A=) c.2864+15A= (n.2864+15A=) c.2798+15A= (n.2798+15A=) c.2159+15A= (n.2159+15A=) c.2777+15A= (n.2777+15A=) | |
| 9 | g.137813188A>G | CA591375846 | EHMT1 | c.3035+15A>G (n.3035+15A>G) c.2921+15A>G (n.2921+15A>G) c.2942+15A>G (n.2942+15A>G) c.3075+15A>G (n.3075+15A>G) c.929+15A>G (n.929+15A>G) c.1892+15A>G (n.1892+15A>G) c.722+15A>G n.561+15A>G c.3026+15A>G (n.3026+15A>G) c.3017+15A>G (n.3017+15A>G) c.3044+15A>G (n.3044+15A>G) c.3041+15A>G (n.3041+15A>G) c.3023+15A>G (n.3023+15A>G) c.2966+15A>G (n.2966+15A>G) c.2900+15A>G (n.2900+15A>G) c.1466+15A>G (n.1466+15A>G) c.818+15A>G (n.818+15A>G) c.605+15A>G (n.605+15A>G) c.2879+15A>G (n.2879+15A>G) c.3014+15A>G (n.3014+15A>G) c.3020+15A>G (n.3020+15A>G) c.2936+15A>G (n.2936+15A>G) c.2864+15A>G (n.2864+15A>G) c.2798+15A>G (n.2798+15A>G) c.2159+15A>G (n.2159+15A>G) c.2777+15A>G (n.2777+15A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |