Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.50268255G>ACA9593076MYH14c.2822G>A (p.Arg941His)
c.2921G>A (p.Arg974His)
c.2798G>A (p.Arg933His)
c.-727-7736G>A (n.-727-7736G>A)
c.2942G>A (p.Arg981His)
c.2918G>A (p.Arg973His)
c.2846G>A (p.Arg949His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50268255G>CCA406948780MYH14c.2822G>C (p.Arg941Pro)
c.2921G>C (p.Arg974Pro)
c.2798G>C (p.Arg933Pro)
c.-727-7736G>C (n.-727-7736G>C)
c.2942G>C (p.Arg981Pro)
c.2918G>C (p.Arg973Pro)
c.2846G>C (p.Arg949Pro)
19g.50268255G=CA2340817234MYH14c.2822G= (p.Arg941=)
c.2921G= (p.Arg974=)
c.2798G= (p.Arg933=)
c.-727-7736G= (n.-727-7736G=)
c.2942G= (p.Arg981=)
c.2918G= (p.Arg973=)
c.2846G= (p.Arg949=)
19g.50268255G>TCA129426MYH14c.2822G>T (p.Arg941Leu)
c.2921G>T (p.Arg974Leu)
c.2798G>T (p.Arg933Leu)
c.-727-7736G>T (n.-727-7736G>T)
c.2942G>T (p.Arg981Leu)
c.2918G>T (p.Arg973Leu)
c.2846G>T (p.Arg949Leu)
 ClinVar dbSNP gnomAD v4
19g.50268256C>ACA508176097MYH14c.2823C>A (p.Arg941=)
c.2922C>A (p.Arg974=)
c.2799C>A (p.Arg933=)
c.-727-7735C>A (n.-727-7735C>A)
c.2943C>A (p.Arg981=)
c.2919C>A (p.Arg973=)
c.2847C>A (p.Arg949=)
 gnomAD v4
19g.50268256C>GCA508176098MYH14c.2823C>G (p.Arg941=)
c.2922C>G (p.Arg974=)
c.2799C>G (p.Arg933=)
c.-727-7735C>G (n.-727-7735C>G)
c.2943C>G (p.Arg981=)
c.2919C>G (p.Arg973=)
c.2847C>G (p.Arg949=)
19g.50268256C>TCA508176099MYH14c.2823C>T (p.Arg941=)
c.2922C>T (p.Arg974=)
c.2799C>T (p.Arg933=)
c.-727-7735C>T (n.-727-7735C>T)
c.2943C>T (p.Arg981=)
c.2919C>T (p.Arg973=)
c.2847C>T (p.Arg949=)
 gnomAD v4
19g.50268257A=CA2340817235MYH14c.2824A= (p.Lys942=)
c.2923A= (p.Lys975=)
c.2800A= (p.Lys934=)
c.-727-7734A= (n.-727-7734A=)
c.2944A= (p.Lys982=)
c.2920A= (p.Lys974=)
c.2848A= (p.Lys950=)
19g.50268257A>CCA406948781MYH14c.2824A>C (p.Lys942Gln)
c.2923A>C (p.Lys975Gln)
c.2800A>C (p.Lys934Gln)
c.-727-7734A>C (n.-727-7734A>C)
c.2944A>C (p.Lys982Gln)
c.2920A>C (p.Lys974Gln)
c.2848A>C (p.Lys950Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.50268257A>GCA406948782MYH14c.2824A>G (p.Lys942Glu)
c.2923A>G (p.Lys975Glu)
c.2800A>G (p.Lys934Glu)
c.-727-7734A>G (n.-727-7734A>G)
c.2944A>G (p.Lys982Glu)
c.2920A>G (p.Lys974Glu)
c.2848A>G (p.Lys950Glu)
 dbSNP
19g.50268257A>TCA406948783MYH14c.2824A>T (p.Lys942Ter)
c.2923A>T (p.Lys975Ter)
c.2800A>T (p.Lys934Ter)
c.-727-7734A>T (n.-727-7734A>T)
c.2944A>T (p.Lys982Ter)
c.2920A>T (p.Lys974Ter)
c.2848A>T (p.Lys950Ter)
19g.50268258A>CCA406948784MYH14c.2825A>C (p.Lys942Thr)
c.2924A>C (p.Lys975Thr)
c.2801A>C (p.Lys934Thr)
c.-727-7733A>C (n.-727-7733A>C)
c.2945A>C (p.Lys982Thr)
c.2921A>C (p.Lys974Thr)
c.2849A>C (p.Lys950Thr)
19g.50268258A>GCA406948785MYH14c.2825A>G (p.Lys942Arg)
c.2924A>G (p.Lys975Arg)
c.2801A>G (p.Lys934Arg)
c.-727-7733A>G (n.-727-7733A>G)
c.2945A>G (p.Lys982Arg)
c.2921A>G (p.Lys974Arg)
c.2849A>G (p.Lys950Arg)
19g.50268258A>TCA406948786MYH14c.2825A>T (p.Lys942Met)
c.2924A>T (p.Lys975Met)
c.2801A>T (p.Lys934Met)
c.-727-7733A>T (n.-727-7733A>T)
c.2945A>T (p.Lys982Met)
c.2921A>T (p.Lys974Met)
c.2849A>T (p.Lys950Met)
19g.50268259G>ACA508176100MYH14c.2826G>A (p.Lys942=)
c.2925G>A (p.Lys975=)
c.2802G>A (p.Lys934=)
c.-727-7732G>A (n.-727-7732G>A)
c.2946G>A (p.Lys982=)
c.2922G>A (p.Lys974=)
c.2850G>A (p.Lys950=)
 gnomAD v4
19g.50268259G>CCA406948787MYH14c.2826G>C (p.Lys942Asn)
c.2925G>C (p.Lys975Asn)
c.2802G>C (p.Lys934Asn)
c.-727-7732G>C (n.-727-7732G>C)
c.2946G>C (p.Lys982Asn)
c.2922G>C (p.Lys974Asn)
c.2850G>C (p.Lys950Asn)
19g.50268259G>TCA406948788MYH14c.2826G>T (p.Lys942Asn)
c.2925G>T (p.Lys975Asn)
c.2802G>T (p.Lys934Asn)
c.-727-7732G>T (n.-727-7732G>T)
c.2946G>T (p.Lys982Asn)
c.2922G>T (p.Lys974Asn)
c.2850G>T (p.Lys950Asn)
 gnomAD v4
19g.50268260C>ACA406948789MYH14c.2827C>A (p.Gln943Lys)
c.2926C>A (p.Gln976Lys)
c.2803C>A (p.Gln935Lys)
c.-727-7731C>A (n.-727-7731C>A)
c.2947C>A (p.Gln983Lys)
c.2923C>A (p.Gln975Lys)
c.2851C>A (p.Gln951Lys)
 gnomAD v4
19g.50268260C=CA2340817236MYH14c.2827C= (p.Gln943=)
c.2926C= (p.Gln976=)
c.2803C= (p.Gln935=)
c.-727-7731C= (n.-727-7731C=)
c.2947C= (p.Gln983=)
c.2923C= (p.Gln975=)
c.2851C= (p.Gln951=)
19g.50268260C>GCA406948790MYH14c.2827C>G (p.Gln943Glu)
c.2926C>G (p.Gln976Glu)
c.2803C>G (p.Gln935Glu)
c.-727-7731C>G (n.-727-7731C>G)
c.2947C>G (p.Gln983Glu)
c.2923C>G (p.Gln975Glu)
c.2851C>G (p.Gln951Glu)
19g.50268260C>TCA406948791MYH14c.2827C>T (p.Gln943Ter)
c.2926C>T (p.Gln976Ter)
c.2803C>T (p.Gln935Ter)
c.-727-7731C>T (n.-727-7731C>T)
c.2947C>T (p.Gln983Ter)
c.2923C>T (p.Gln975Ter)
c.2851C>T (p.Gln951Ter)
 dbSNP gnomAD v2
19g.50268261A>CCA406948794MYH14c.2828A>C (p.Gln943Pro)
c.2927A>C (p.Gln976Pro)
c.2804A>C (p.Gln935Pro)
c.-727-7730A>C (n.-727-7730A>C)
c.2948A>C (p.Gln983Pro)
c.2924A>C (p.Gln975Pro)
c.2852A>C (p.Gln951Pro)
19g.50268261A>GCA406948793MYH14c.2828A>G (p.Gln943Arg)
c.2927A>G (p.Gln976Arg)
c.2804A>G (p.Gln935Arg)
c.-727-7730A>G (n.-727-7730A>G)
c.2948A>G (p.Gln983Arg)
c.2924A>G (p.Gln975Arg)
c.2852A>G (p.Gln951Arg)
 gnomAD v4
19g.50268261A>TCA406948792MYH14c.2828A>T (p.Gln943Leu)
c.2927A>T (p.Gln976Leu)
c.2804A>T (p.Gln935Leu)
c.-727-7730A>T (n.-727-7730A>T)
c.2948A>T (p.Gln983Leu)
c.2924A>T (p.Gln975Leu)
c.2852A>T (p.Gln951Leu)
19g.50268262G>ACA508176101MYH14c.2829G>A (p.Gln943=)
c.2928G>A (p.Gln976=)
c.2805G>A (p.Gln935=)
c.-727-7729G>A (n.-727-7729G>A)
c.2949G>A (p.Gln983=)
c.2925G>A (p.Gln975=)
c.2853G>A (p.Gln951=)
19g.50268262G>CCA406948795MYH14c.2829G>C (p.Gln943His)
c.2928G>C (p.Gln976His)
c.2805G>C (p.Gln935His)
c.-727-7729G>C (n.-727-7729G>C)
c.2949G>C (p.Gln983His)
c.2925G>C (p.Gln975His)
c.2853G>C (p.Gln951His)
19g.50268262G>TCA406948796MYH14c.2829G>T (p.Gln943His)
c.2928G>T (p.Gln976His)
c.2805G>T (p.Gln935His)
c.-727-7729G>T (n.-727-7729G>T)
c.2949G>T (p.Gln983His)
c.2925G>T (p.Gln975His)
c.2853G>T (p.Gln951His)
 gnomAD v4
19g.50268263G>ACA406948797MYH14c.2830G>A (p.Glu944Lys)
c.2929G>A (p.Glu977Lys)
c.2806G>A (p.Glu936Lys)
c.-727-7728G>A (n.-727-7728G>A)
c.2950G>A (p.Glu984Lys)
c.2926G>A (p.Glu976Lys)
c.2854G>A (p.Glu952Lys)
 gnomAD v4
19g.50268263G>CCA9593077MYH14c.2830G>C (p.Glu944Gln)
c.2929G>C (p.Glu977Gln)
c.2806G>C (p.Glu936Gln)
c.-727-7728G>C (n.-727-7728G>C)
c.2950G>C (p.Glu984Gln)
c.2926G>C (p.Glu976Gln)
c.2854G>C (p.Glu952Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.50268263G=CA2340817237MYH14c.2830G= (p.Glu944=)
c.2929G= (p.Glu977=)
c.2806G= (p.Glu936=)
c.-727-7728G= (n.-727-7728G=)
c.2950G= (p.Glu984=)
c.2926G= (p.Glu976=)
c.2854G= (p.Glu952=)
19g.50268263G>TCA406948798MYH14c.2830G>T (p.Glu944Ter)
c.2929G>T (p.Glu977Ter)
c.2806G>T (p.Glu936Ter)
c.-727-7728G>T (n.-727-7728G>T)
c.2950G>T (p.Glu984Ter)
c.2926G>T (p.Glu976Ter)
c.2854G>T (p.Glu952Ter)
19g.50268264A>CCA406948800MYH14c.2831A>C (p.Glu944Ala)
c.2930A>C (p.Glu977Ala)
c.2807A>C (p.Glu936Ala)
c.-727-7727A>C (n.-727-7727A>C)
c.2951A>C (p.Glu984Ala)
c.2927A>C (p.Glu976Ala)
c.2855A>C (p.Glu952Ala)
19g.50268264A>GCA406948801MYH14c.2831A>G (p.Glu944Gly)
c.2930A>G (p.Glu977Gly)
c.2807A>G (p.Glu936Gly)
c.-727-7727A>G (n.-727-7727A>G)
c.2951A>G (p.Glu984Gly)
c.2927A>G (p.Glu976Gly)
c.2855A>G (p.Glu952Gly)
19g.50268264A>TCA406948802MYH14c.2831A>T (p.Glu944Val)
c.2930A>T (p.Glu977Val)
c.2807A>T (p.Glu936Val)
c.-727-7727A>T (n.-727-7727A>T)
c.2951A>T (p.Glu984Val)
c.2927A>T (p.Glu976Val)
c.2855A>T (p.Glu952Val)
19g.50268265G>ACA508176102MYH14c.2832G>A (p.Glu944=)
c.2931G>A (p.Glu977=)
c.2808G>A (p.Glu936=)
c.-727-7726G>A (n.-727-7726G>A)
c.2952G>A (p.Glu984=)
c.2928G>A (p.Glu976=)
c.2856G>A (p.Glu952=)
 gnomAD v4
19g.50268265G>CCA406948803MYH14c.2832G>C (p.Glu944Asp)
c.2931G>C (p.Glu977Asp)
c.2808G>C (p.Glu936Asp)
c.-727-7726G>C (n.-727-7726G>C)
c.2952G>C (p.Glu984Asp)
c.2928G>C (p.Glu976Asp)
c.2856G>C (p.Glu952Asp)
19g.50268265G>TCA406948804MYH14c.2832G>T (p.Glu944Asp)
c.2931G>T (p.Glu977Asp)
c.2808G>T (p.Glu936Asp)
c.-727-7726G>T (n.-727-7726G>T)
c.2952G>T (p.Glu984Asp)
c.2928G>T (p.Glu976Asp)
c.2856G>T (p.Glu952Asp)
 gnomAD v4
19g.50268266C>ACA406948805MYH14c.2833C>A (p.Leu945Met)
c.2932C>A (p.Leu978Met)
c.2809C>A (p.Leu937Met)
c.-727-7725C>A (n.-727-7725C>A)
c.2953C>A (p.Leu985Met)
c.2929C>A (p.Leu977Met)
c.2857C>A (p.Leu953Met)
 gnomAD v4
19g.50268266C>GCA406948806MYH14c.2833C>G (p.Leu945Val)
c.2932C>G (p.Leu978Val)
c.2809C>G (p.Leu937Val)
c.-727-7725C>G (n.-727-7725C>G)
c.2953C>G (p.Leu985Val)
c.2929C>G (p.Leu977Val)
c.2857C>G (p.Leu953Val)
 ClinVar
19g.50268266C>TCA508176103MYH14c.2833C>T (p.Leu945=)
c.2932C>T (p.Leu978=)
c.2809C>T (p.Leu937=)
c.-727-7725C>T (n.-727-7725C>T)
c.2953C>T (p.Leu985=)
c.2929C>T (p.Leu977=)
c.2857C>T (p.Leu953=)
19g.50268267T>ACA406948809MYH14c.2834T>A (p.Leu945Gln)
c.2933T>A (p.Leu978Gln)
c.2810T>A (p.Leu937Gln)
c.-727-7724T>A (n.-727-7724T>A)
c.2954T>A (p.Leu985Gln)
c.2930T>A (p.Leu977Gln)
c.2858T>A (p.Leu953Gln)
19g.50268267T>CCA406948808MYH14c.2834T>C (p.Leu945Pro)
c.2933T>C (p.Leu978Pro)
c.2810T>C (p.Leu937Pro)
c.-727-7724T>C (n.-727-7724T>C)
c.2954T>C (p.Leu985Pro)
c.2930T>C (p.Leu977Pro)
c.2858T>C (p.Leu953Pro)
 ClinVar gnomAD v4
19g.50268267T>GCA406948807MYH14c.2834T>G (p.Leu945Arg)
c.2933T>G (p.Leu978Arg)
c.2810T>G (p.Leu937Arg)
c.-727-7724T>G (n.-727-7724T>G)
c.2954T>G (p.Leu985Arg)
c.2930T>G (p.Leu977Arg)
c.2858T>G (p.Leu953Arg)
19g.50268268G>ACA508176104MYH14c.2835G>A (p.Leu945=)
c.2934G>A (p.Leu978=)
c.2811G>A (p.Leu937=)
c.-727-7723G>A (n.-727-7723G>A)
c.2955G>A (p.Leu985=)
c.2931G>A (p.Leu977=)
c.2859G>A (p.Leu953=)
 gnomAD v4
19g.50268268G>CCA508176105MYH14c.2835G>C (p.Leu945=)
c.2934G>C (p.Leu978=)
c.2811G>C (p.Leu937=)
c.-727-7723G>C (n.-727-7723G>C)
c.2955G>C (p.Leu985=)
c.2931G>C (p.Leu977=)
c.2859G>C (p.Leu953=)
19g.50268268G>TCA508176106MYH14c.2835G>T (p.Leu945=)
c.2934G>T (p.Leu978=)
c.2811G>T (p.Leu937=)
c.-727-7723G>T (n.-727-7723G>T)
c.2955G>T (p.Leu985=)
c.2931G>T (p.Leu977=)
c.2859G>T (p.Leu953=)
 gnomAD v4
19g.50268269G>ACA406948810MYH14c.2836G>A (p.Glu946Lys)
c.2935G>A (p.Glu979Lys)
c.2812G>A (p.Glu938Lys)
c.-727-7722G>A (n.-727-7722G>A)
c.2956G>A (p.Glu986Lys)
c.2932G>A (p.Glu978Lys)
c.2860G>A (p.Glu954Lys)
 gnomAD v4
19g.50268269G>CCA406948812MYH14c.2836G>C (p.Glu946Gln)
c.2935G>C (p.Glu979Gln)
c.2812G>C (p.Glu938Gln)
c.-727-7722G>C (n.-727-7722G>C)
c.2956G>C (p.Glu986Gln)
c.2932G>C (p.Glu978Gln)
c.2860G>C (p.Glu954Gln)
19g.50268269G>TCA406948811MYH14c.2836G>T (p.Glu946Ter)
c.2935G>T (p.Glu979Ter)
c.2812G>T (p.Glu938Ter)
c.-727-7722G>T (n.-727-7722G>T)
c.2956G>T (p.Glu986Ter)
c.2932G>T (p.Glu978Ter)
c.2860G>T (p.Glu954Ter)
 gnomAD v4
19g.50268270A>CCA406948813MYH14c.2837A>C (p.Glu946Ala)
c.2936A>C (p.Glu979Ala)
c.2813A>C (p.Glu938Ala)
c.-727-7721A>C (n.-727-7721A>C)
c.2957A>C (p.Glu986Ala)
c.2933A>C (p.Glu978Ala)
c.2861A>C (p.Glu954Ala)
 gnomAD v4
19g.50268270A>GCA406948814MYH14c.2837A>G (p.Glu946Gly)
c.2936A>G (p.Glu979Gly)
c.2813A>G (p.Glu938Gly)
c.-727-7721A>G (n.-727-7721A>G)
c.2957A>G (p.Glu986Gly)
c.2933A>G (p.Glu978Gly)
c.2861A>G (p.Glu954Gly)
19g.50268270A>TCA406948815MYH14c.2837A>T (p.Glu946Val)
c.2936A>T (p.Glu979Val)
c.2813A>T (p.Glu938Val)
c.-727-7721A>T (n.-727-7721A>T)
c.2957A>T (p.Glu986Val)
c.2933A>T (p.Glu978Val)
c.2861A>T (p.Glu954Val)
19g.50268271G>ACA508176107MYH14c.2838G>A (p.Glu946=)
c.2937G>A (p.Glu979=)
c.2814G>A (p.Glu938=)
c.-727-7720G>A (n.-727-7720G>A)
c.2958G>A (p.Glu986=)
c.2934G>A (p.Glu978=)
c.2862G>A (p.Glu954=)
 gnomAD v4
19g.50268271G>CCA406948816MYH14c.2838G>C (p.Glu946Asp)
c.2937G>C (p.Glu979Asp)
c.2814G>C (p.Glu938Asp)
c.-727-7720G>C (n.-727-7720G>C)
c.2958G>C (p.Glu986Asp)
c.2934G>C (p.Glu978Asp)
c.2862G>C (p.Glu954Asp)
19g.50268271G>TCA406948817MYH14c.2838G>T (p.Glu946Asp)
c.2937G>T (p.Glu979Asp)
c.2814G>T (p.Glu938Asp)
c.-727-7720G>T (n.-727-7720G>T)
c.2958G>T (p.Glu986Asp)
c.2934G>T (p.Glu978Asp)
c.2862G>T (p.Glu954Asp)
 gnomAD v4
19g.50268272C>ACA406948818MYH14c.2839C>A (p.Leu947Met)
c.2938C>A (p.Leu980Met)
c.2815C>A (p.Leu939Met)
c.-727-7719C>A (n.-727-7719C>A)
c.2959C>A (p.Leu987Met)
c.2935C>A (p.Leu979Met)
c.2863C>A (p.Leu955Met)
 gnomAD v4
19g.50268272C>GCA406948819MYH14c.2839C>G (p.Leu947Val)
c.2938C>G (p.Leu980Val)
c.2815C>G (p.Leu939Val)
c.-727-7719C>G (n.-727-7719C>G)
c.2959C>G (p.Leu987Val)
c.2935C>G (p.Leu979Val)
c.2863C>G (p.Leu955Val)
19g.50268272C>TCA508176108MYH14c.2839C>T (p.Leu947=)
c.2938C>T (p.Leu980=)
c.2815C>T (p.Leu939=)
c.-727-7719C>T (n.-727-7719C>T)
c.2959C>T (p.Leu987=)
c.2935C>T (p.Leu979=)
c.2863C>T (p.Leu955=)
 gnomAD v4
19g.50268273T>ACA406948820MYH14c.2840T>A (p.Leu947Gln)
c.2939T>A (p.Leu980Gln)
c.2816T>A (p.Leu939Gln)
c.-727-7718T>A (n.-727-7718T>A)
c.2960T>A (p.Leu987Gln)
c.2936T>A (p.Leu979Gln)
c.2864T>A (p.Leu955Gln)
19g.50268273T>CCA406948821MYH14c.2840T>C (p.Leu947Pro)
c.2939T>C (p.Leu980Pro)
c.2816T>C (p.Leu939Pro)
c.-727-7718T>C (n.-727-7718T>C)
c.2960T>C (p.Leu987Pro)
c.2936T>C (p.Leu979Pro)
c.2864T>C (p.Leu955Pro)
 gnomAD v4
19g.50268273T>GCA406948822MYH14c.2840T>G (p.Leu947Arg)
c.2939T>G (p.Leu980Arg)
c.2816T>G (p.Leu939Arg)
c.-727-7718T>G (n.-727-7718T>G)
c.2960T>G (p.Leu987Arg)
c.2936T>G (p.Leu979Arg)
c.2864T>G (p.Leu955Arg)
19g.50268274G>ACA508176109MYH14c.2841G>A (p.Leu947=)
c.2940G>A (p.Leu980=)
c.2817G>A (p.Leu939=)
c.-727-7717G>A (n.-727-7717G>A)
c.2961G>A (p.Leu987=)
c.2937G>A (p.Leu979=)
c.2865G>A (p.Leu955=)
 dbSNP
19g.50268274G>CCA508176110MYH14c.2841G>C (p.Leu947=)
c.2940G>C (p.Leu980=)
c.2817G>C (p.Leu939=)
c.-727-7717G>C (n.-727-7717G>C)
c.2961G>C (p.Leu987=)
c.2937G>C (p.Leu979=)
c.2865G>C (p.Leu955=)
19g.50268274G=CA2340817238MYH14c.2841G= (p.Leu947=)
c.2940G= (p.Leu980=)
c.2817G= (p.Leu939=)
c.-727-7717G= (n.-727-7717G=)
c.2961G= (p.Leu987=)
c.2937G= (p.Leu979=)
c.2865G= (p.Leu955=)
19g.50268274G>TCA508176111MYH14c.2841G>T (p.Leu947=)
c.2940G>T (p.Leu980=)
c.2817G>T (p.Leu939=)
c.-727-7717G>T (n.-727-7717G>T)
c.2961G>T (p.Leu987=)
c.2937G>T (p.Leu979=)
c.2865G>T (p.Leu955=)
 gnomAD v4
19g.50268275G>ACA10652716MYH14c.2842G>A (p.Val948Met)
c.2941G>A (p.Val981Met)
c.2818G>A (p.Val940Met)
c.-727-7716G>A (n.-727-7716G>A)
c.2962G>A (p.Val988Met)
c.2938G>A (p.Val980Met)
c.2866G>A (p.Val956Met)
 ClinVar dbSNP gnomAD v4
19g.50268275G>CCA406948824MYH14c.2842G>C (p.Val948Leu)
c.2941G>C (p.Val981Leu)
c.2818G>C (p.Val940Leu)
c.-727-7716G>C (n.-727-7716G>C)
c.2962G>C (p.Val988Leu)
c.2938G>C (p.Val980Leu)
c.2866G>C (p.Val956Leu)
 gnomAD v4
19g.50268275G=CA2340817239MYH14c.2842G= (p.Val948=)
c.2941G= (p.Val981=)
c.2818G= (p.Val940=)
c.-727-7716G= (n.-727-7716G=)
c.2962G= (p.Val988=)
c.2938G= (p.Val980=)
c.2866G= (p.Val956=)
19g.50268275G>TCA406948823MYH14c.2842G>T (p.Val948Leu)
c.2941G>T (p.Val981Leu)
c.2818G>T (p.Val940Leu)
c.-727-7716G>T (n.-727-7716G>T)
c.2962G>T (p.Val988Leu)
c.2938G>T (p.Val980Leu)
c.2866G>T (p.Val956Leu)
 dbSNP gnomAD v4
19g.50268276T>ACA406948825MYH14c.2843T>A (p.Val948Glu)
c.2942T>A (p.Val981Glu)
c.2819T>A (p.Val940Glu)
c.-727-7715T>A (n.-727-7715T>A)
c.2963T>A (p.Val988Glu)
c.2939T>A (p.Val980Glu)
c.2867T>A (p.Val956Glu)
19g.50268276T>CCA406948826MYH14c.2843T>C (p.Val948Ala)
c.2942T>C (p.Val981Ala)
c.2819T>C (p.Val940Ala)
c.-727-7715T>C (n.-727-7715T>C)
c.2963T>C (p.Val988Ala)
c.2939T>C (p.Val980Ala)
c.2867T>C (p.Val956Ala)
19g.50268276T>GCA406948827MYH14c.2843T>G (p.Val948Gly)
c.2942T>G (p.Val981Gly)
c.2819T>G (p.Val940Gly)
c.-727-7715T>G (n.-727-7715T>G)
c.2963T>G (p.Val988Gly)
c.2939T>G (p.Val980Gly)
c.2867T>G (p.Val956Gly)
19g.50268277G>ACA508176112MYH14c.2844G>A (p.Val948=)
c.2943G>A (p.Val981=)
c.2820G>A (p.Val940=)
c.-727-7714G>A (n.-727-7714G>A)
c.2964G>A (p.Val988=)
c.2940G>A (p.Val980=)
c.2868G>A (p.Val956=)
19g.50268277G>CCA508176113MYH14c.2844G>C (p.Val948=)
c.2943G>C (p.Val981=)
c.2820G>C (p.Val940=)
c.-727-7714G>C (n.-727-7714G>C)
c.2964G>C (p.Val988=)
c.2940G>C (p.Val980=)
c.2868G>C (p.Val956=)
19g.50268277G>TCA508176114MYH14c.2844G>T (p.Val948=)
c.2943G>T (p.Val981=)
c.2820G>T (p.Val940=)
c.-727-7714G>T (n.-727-7714G>T)
c.2964G>T (p.Val988=)
c.2940G>T (p.Val980=)
c.2868G>T (p.Val956=)
 gnomAD v4
19g.50268278delCA2586545544MYH14c.2845del (p.Val949CysfsTer?)
c.2944del (p.Val982CysfsTer?)
c.2821del (p.Val941CysfsTer?)
c.-727-7713del (n.-727-7713del)
c.2965del (p.Val989CysfsTer?)
c.2941del (p.Val981CysfsTer?)
c.2869del (p.Val957CysfsTer?)
 gnomAD v4
19g.50268278G>ACA309561827MYH14c.2845G>A (p.Val949Met)
c.2944G>A (p.Val982Met)
c.2821G>A (p.Val941Met)
c.-727-7713G>A (n.-727-7713G>A)
c.2965G>A (p.Val989Met)
c.2941G>A (p.Val981Met)
c.2869G>A (p.Val957Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50268278G>CCA406948828MYH14c.2845G>C (p.Val949Leu)
c.2944G>C (p.Val982Leu)
c.2821G>C (p.Val941Leu)
c.-727-7713G>C (n.-727-7713G>C)
c.2965G>C (p.Val989Leu)
c.2941G>C (p.Val981Leu)
c.2869G>C (p.Val957Leu)
19g.50268278G=CA2340817240MYH14c.2845G= (p.Val949=)
c.2944G= (p.Val982=)
c.2821G= (p.Val941=)
c.-727-7713G= (n.-727-7713G=)
c.2965G= (p.Val989=)
c.2941G= (p.Val981=)
c.2869G= (p.Val957=)
19g.50268278G>TCA406948829MYH14c.2845G>T (p.Val949Leu)
c.2944G>T (p.Val982Leu)
c.2821G>T (p.Val941Leu)
c.-727-7713G>T (n.-727-7713G>T)
c.2965G>T (p.Val989Leu)
c.2941G>T (p.Val981Leu)
c.2869G>T (p.Val957Leu)
 gnomAD v4
19g.50268279T>ACA406948830MYH14c.2846T>A (p.Val949Glu)
c.2945T>A (p.Val982Glu)
c.2822T>A (p.Val941Glu)
c.-727-7712T>A (n.-727-7712T>A)
c.2966T>A (p.Val989Glu)
c.2942T>A (p.Val981Glu)
c.2870T>A (p.Val957Glu)
 gnomAD v4
19g.50268279T>CCA406948831MYH14c.2846T>C (p.Val949Ala)
c.2945T>C (p.Val982Ala)
c.2822T>C (p.Val941Ala)
c.-727-7712T>C (n.-727-7712T>C)
c.2966T>C (p.Val989Ala)
c.2942T>C (p.Val981Ala)
c.2870T>C (p.Val957Ala)
 gnomAD v4 COSMIC COSMIC COSMIC
19g.50268279T>GCA406948832MYH14c.2846T>G (p.Val949Gly)
c.2945T>G (p.Val982Gly)
c.2822T>G (p.Val941Gly)
c.-727-7712T>G (n.-727-7712T>G)
c.2966T>G (p.Val989Gly)
c.2942T>G (p.Val981Gly)
c.2870T>G (p.Val957Gly)
 dbSNP
19g.50268279T=CA2340817241MYH14c.2846T= (p.Val949=)
c.2945T= (p.Val982=)
c.2822T= (p.Val941=)
c.-727-7712T= (n.-727-7712T=)
c.2966T= (p.Val989=)
c.2942T= (p.Val981=)
c.2870T= (p.Val957=)
19g.50268280G>ACA508176115MYH14c.2847G>A (p.Val949=)
c.2946G>A (p.Val982=)
c.2823G>A (p.Val941=)
c.-727-7711G>A (n.-727-7711G>A)
c.2967G>A (p.Val989=)
c.2943G>A (p.Val981=)
c.2871G>A (p.Val957=)
 dbSNP gnomAD v2 gnomAD v4
19g.50268280G>CCA508176116MYH14c.2847G>C (p.Val949=)
c.2946G>C (p.Val982=)
c.2823G>C (p.Val941=)
c.-727-7711G>C (n.-727-7711G>C)
c.2967G>C (p.Val989=)
c.2943G>C (p.Val981=)
c.2871G>C (p.Val957=)
19g.50268280G=CA2340817242MYH14c.2847G= (p.Val949=)
c.2946G= (p.Val982=)
c.2823G= (p.Val941=)
c.-727-7711G= (n.-727-7711G=)
c.2967G= (p.Val989=)
c.2943G= (p.Val981=)
c.2871G= (p.Val957=)
19g.50268280G>TCA508176117MYH14c.2847G>T (p.Val949=)
c.2946G>T (p.Val982=)
c.2823G>T (p.Val941=)
c.-727-7711G>T (n.-727-7711G>T)
c.2967G>T (p.Val989=)
c.2943G>T (p.Val981=)
c.2871G>T (p.Val957=)
 gnomAD v4
19g.50268281T>ACA406948833MYH14c.2848T>A (p.Ser950Thr)
c.2947T>A (p.Ser983Thr)
c.2824T>A (p.Ser942Thr)
c.-727-7710T>A (n.-727-7710T>A)
c.2968T>A (p.Ser990Thr)
c.2944T>A (p.Ser982Thr)
c.2872T>A (p.Ser958Thr)
19g.50268281T>CCA406948834MYH14c.2848T>C (p.Ser950Pro)
c.2947T>C (p.Ser983Pro)
c.2824T>C (p.Ser942Pro)
c.-727-7710T>C (n.-727-7710T>C)
c.2968T>C (p.Ser990Pro)
c.2944T>C (p.Ser982Pro)
c.2872T>C (p.Ser958Pro)
 gnomAD v4
19g.50268281T>GCA406948835MYH14c.2848T>G (p.Ser950Ala)
c.2947T>G (p.Ser983Ala)
c.2824T>G (p.Ser942Ala)
c.-727-7710T>G (n.-727-7710T>G)
c.2968T>G (p.Ser990Ala)
c.2944T>G (p.Ser982Ala)
c.2872T>G (p.Ser958Ala)
 dbSNP
19g.50268281T=CA2340817243MYH14c.2848T= (p.Ser950=)
c.2947T= (p.Ser983=)
c.2824T= (p.Ser942=)
c.-727-7710T= (n.-727-7710T=)
c.2968T= (p.Ser990=)
c.2944T= (p.Ser982=)
c.2872T= (p.Ser958=)
19g.50268282C>ACA406948837MYH14c.2849C>A (p.Ser950Ter)
c.2948C>A (p.Ser983Ter)
c.2825C>A (p.Ser942Ter)
c.-727-7709C>A (n.-727-7709C>A)
c.2969C>A (p.Ser990Ter)
c.2945C>A (p.Ser982Ter)
c.2873C>A (p.Ser958Ter)
 gnomAD v4
19g.50268282C>GCA406948838MYH14c.2849C>G (p.Ser950Ter)
c.2948C>G (p.Ser983Ter)
c.2825C>G (p.Ser942Ter)
c.-727-7709C>G (n.-727-7709C>G)
c.2969C>G (p.Ser990Ter)
c.2945C>G (p.Ser982Ter)
c.2873C>G (p.Ser958Ter)
19g.50268282C>TCA406948836MYH14c.2849C>T (p.Ser950Leu)
c.2948C>T (p.Ser983Leu)
c.2825C>T (p.Ser942Leu)
c.-727-7709C>T (n.-727-7709C>T)
c.2969C>T (p.Ser990Leu)
c.2945C>T (p.Ser982Leu)
c.2873C>T (p.Ser958Leu)
19g.50268283A>CCA508176118MYH14c.2850A>C (p.Ser950=)
c.2949A>C (p.Ser983=)
c.2826A>C (p.Ser942=)
c.-727-7708A>C (n.-727-7708A>C)
c.2970A>C (p.Ser990=)
c.2946A>C (p.Ser982=)
c.2874A>C (p.Ser958=)
19g.50268283A>GCA508176119MYH14c.2850A>G (p.Ser950=)
c.2949A>G (p.Ser983=)
c.2826A>G (p.Ser942=)
c.-727-7708A>G (n.-727-7708A>G)
c.2970A>G (p.Ser990=)
c.2946A>G (p.Ser982=)
c.2874A>G (p.Ser958=)
 gnomAD v4
19g.50268283A>TCA508176120MYH14c.2850A>T (p.Ser950=)
c.2949A>T (p.Ser983=)
c.2826A>T (p.Ser942=)
c.-727-7708A>T (n.-727-7708A>T)
c.2970A>T (p.Ser990=)
c.2946A>T (p.Ser982=)
c.2874A>T (p.Ser958=)
19g.50268285_50268286delCA2839730818MYH14c.2852_2853del (p.Glu951AlafsTer?)
c.2951_2952del (p.Glu984AlafsTer?)
c.2828_2829del (p.Glu943AlafsTer?)
c.-727-7706_-727-7705del (n.-727-7706_-727-7705del)
c.2972_2973del (p.Glu991AlafsTer?)
c.2948_2949del (p.Glu983AlafsTer?)
c.2876_2877del (p.Glu959AlafsTer?)
19g.50268284G>ACA406948839MYH14c.2851G>A (p.Glu951Lys)
c.2950G>A (p.Glu984Lys)
c.2827G>A (p.Glu943Lys)
c.-727-7707G>A (n.-727-7707G>A)
c.2971G>A (p.Glu991Lys)
c.2947G>A (p.Glu983Lys)
c.2875G>A (p.Glu959Lys)
19g.50268284G>CCA406948840MYH14c.2851G>C (p.Glu951Gln)
c.2950G>C (p.Glu984Gln)
c.2827G>C (p.Glu943Gln)
c.-727-7707G>C (n.-727-7707G>C)
c.2971G>C (p.Glu991Gln)
c.2947G>C (p.Glu983Gln)
c.2875G>C (p.Glu959Gln)
19g.50268284G>TCA406948841MYH14c.2851G>T (p.Glu951Ter)
c.2950G>T (p.Glu984Ter)
c.2827G>T (p.Glu943Ter)
c.-727-7707G>T (n.-727-7707G>T)
c.2971G>T (p.Glu991Ter)
c.2947G>T (p.Glu983Ter)
c.2875G>T (p.Glu959Ter)
 gnomAD v4
19g.50268285A>CCA406948842MYH14c.2852A>C (p.Glu951Ala)
c.2951A>C (p.Glu984Ala)
c.2828A>C (p.Glu943Ala)
c.-727-7706A>C (n.-727-7706A>C)
c.2972A>C (p.Glu991Ala)
c.2948A>C (p.Glu983Ala)
c.2876A>C (p.Glu959Ala)
19g.50268285A>GCA406948843MYH14c.2852A>G (p.Glu951Gly)
c.2951A>G (p.Glu984Gly)
c.2828A>G (p.Glu943Gly)
c.-727-7706A>G (n.-727-7706A>G)
c.2972A>G (p.Glu991Gly)
c.2948A>G (p.Glu983Gly)
c.2876A>G (p.Glu959Gly)
19g.50268285A>TCA406948844MYH14c.2852A>T (p.Glu951Val)
c.2951A>T (p.Glu984Val)
c.2828A>T (p.Glu943Val)
c.-727-7706A>T (n.-727-7706A>T)
c.2972A>T (p.Glu991Val)
c.2948A>T (p.Glu983Val)
c.2876A>T (p.Glu959Val)
19g.50268286G>ACA9593078MYH14c.2853G>A (p.Glu951=)
c.2952G>A (p.Glu984=)
c.2829G>A (p.Glu943=)
c.-727-7705G>A (n.-727-7705G>A)
c.2973G>A (p.Glu991=)
c.2949G>A (p.Glu983=)
c.2877G>A (p.Glu959=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.50268286G>CCA406948845MYH14c.2853G>C (p.Glu951Asp)
c.2952G>C (p.Glu984Asp)
c.2829G>C (p.Glu943Asp)
c.-727-7705G>C (n.-727-7705G>C)
c.2973G>C (p.Glu991Asp)
c.2949G>C (p.Glu983Asp)
c.2877G>C (p.Glu959Asp)
19g.50268286G=CA2340817244MYH14c.2853G= (p.Glu951=)
c.2952G= (p.Glu984=)
c.2829G= (p.Glu943=)
c.-727-7705G= (n.-727-7705G=)
c.2973G= (p.Glu991=)
c.2949G= (p.Glu983=)
c.2877G= (p.Glu959=)
19g.50268286G>TCA406948846MYH14c.2853G>T (p.Glu951Asp)
c.2952G>T (p.Glu984Asp)
c.2829G>T (p.Glu943Asp)
c.-727-7705G>T (n.-727-7705G>T)
c.2973G>T (p.Glu991Asp)
c.2949G>T (p.Glu983Asp)
c.2877G>T (p.Glu959Asp)
 gnomAD v4
19g.50268287C>ACA406948847MYH14c.2854C>A (p.Leu952Met)
c.2953C>A (p.Leu985Met)
c.2830C>A (p.Leu944Met)
c.-727-7704C>A (n.-727-7704C>A)
c.2974C>A (p.Leu992Met)
c.2950C>A (p.Leu984Met)
c.2878C>A (p.Leu960Met)
 gnomAD v4
19g.50268287C>GCA406948848MYH14c.2854C>G (p.Leu952Val)
c.2953C>G (p.Leu985Val)
c.2830C>G (p.Leu944Val)
c.-727-7704C>G (n.-727-7704C>G)
c.2974C>G (p.Leu992Val)
c.2950C>G (p.Leu984Val)
c.2878C>G (p.Leu960Val)
19g.50268287C>TCA508176121MYH14c.2854C>T (p.Leu952=)
c.2953C>T (p.Leu985=)
c.2830C>T (p.Leu944=)
c.-727-7704C>T (n.-727-7704C>T)
c.2974C>T (p.Leu992=)
c.2950C>T (p.Leu984=)
c.2878C>T (p.Leu960=)
 gnomAD v4
19g.50268288T>ACA309561843MYH14c.2855T>A (p.Leu952Gln)
c.2954T>A (p.Leu985Gln)
c.2831T>A (p.Leu944Gln)
c.-727-7703T>A (n.-727-7703T>A)
c.2975T>A (p.Leu992Gln)
c.2951T>A (p.Leu984Gln)
c.2879T>A (p.Leu960Gln)
 dbSNP gnomAD v4
19g.50268288T>CCA406948849MYH14c.2855T>C (p.Leu952Pro)
c.2954T>C (p.Leu985Pro)
c.2831T>C (p.Leu944Pro)
c.-727-7703T>C (n.-727-7703T>C)
c.2975T>C (p.Leu992Pro)
c.2951T>C (p.Leu984Pro)
c.2879T>C (p.Leu960Pro)
 gnomAD v4
19g.50268288T>GCA406948850MYH14c.2855T>G (p.Leu952Arg)
c.2954T>G (p.Leu985Arg)
c.2831T>G (p.Leu944Arg)
c.-727-7703T>G (n.-727-7703T>G)
c.2975T>G (p.Leu992Arg)
c.2951T>G (p.Leu984Arg)
c.2879T>G (p.Leu960Arg)
 dbSNP
19g.50268288T=CA2340817245MYH14c.2855T= (p.Leu952=)
c.2954T= (p.Leu985=)
c.2831T= (p.Leu944=)
c.-727-7703T= (n.-727-7703T=)
c.2975T= (p.Leu992=)
c.2951T= (p.Leu984=)
c.2879T= (p.Leu960=)
19g.50268289G>ACA508176122MYH14c.2856G>A (p.Leu952=)
c.2955G>A (p.Leu985=)
c.2832G>A (p.Leu944=)
c.-727-7702G>A (n.-727-7702G>A)
c.2976G>A (p.Leu992=)
c.2952G>A (p.Leu984=)
c.2880G>A (p.Leu960=)
 dbSNP gnomAD v2 gnomAD v4
19g.50268289G>CCA508176123MYH14c.2856G>C (p.Leu952=)
c.2955G>C (p.Leu985=)
c.2832G>C (p.Leu944=)
c.-727-7702G>C (n.-727-7702G>C)
c.2976G>C (p.Leu992=)
c.2952G>C (p.Leu984=)
c.2880G>C (p.Leu960=)
19g.50268289G=CA2340817246MYH14c.2856G= (p.Leu952=)
c.2955G= (p.Leu985=)
c.2832G= (p.Leu944=)
c.-727-7702G= (n.-727-7702G=)
c.2976G= (p.Leu992=)
c.2952G= (p.Leu984=)
c.2880G= (p.Leu960=)
19g.50268289G>TCA508176124MYH14c.2856G>T (p.Leu952=)
c.2955G>T (p.Leu985=)
c.2832G>T (p.Leu944=)
c.-727-7702G>T (n.-727-7702G>T)
c.2976G>T (p.Leu992=)
c.2952G>T (p.Leu984=)
c.2880G>T (p.Leu960=)
 gnomAD v4
19g.50268290G>ACA406948851MYH14c.2857G>A (p.Glu953Lys)
c.2956G>A (p.Glu986Lys)
c.2833G>A (p.Glu945Lys)
c.-727-7701G>A (n.-727-7701G>A)
c.2977G>A (p.Glu993Lys)
c.2953G>A (p.Glu985Lys)
c.2881G>A (p.Glu961Lys)
 gnomAD v4
19g.50268290G>CCA406948853MYH14c.2857G>C (p.Glu953Gln)
c.2956G>C (p.Glu986Gln)
c.2833G>C (p.Glu945Gln)
c.-727-7701G>C (n.-727-7701G>C)
c.2977G>C (p.Glu993Gln)
c.2953G>C (p.Glu985Gln)
c.2881G>C (p.Glu961Gln)
19g.50268290G>TCA406948852MYH14c.2857G>T (p.Glu953Ter)
c.2956G>T (p.Glu986Ter)
c.2833G>T (p.Glu945Ter)
c.-727-7701G>T (n.-727-7701G>T)
c.2977G>T (p.Glu993Ter)
c.2953G>T (p.Glu985Ter)
c.2881G>T (p.Glu961Ter)
 gnomAD v4
19g.50268291A>CCA406948854MYH14c.2858A>C (p.Glu953Ala)
c.2957A>C (p.Glu986Ala)
c.2834A>C (p.Glu945Ala)
c.-727-7700A>C (n.-727-7700A>C)
c.2978A>C (p.Glu993Ala)
c.2954A>C (p.Glu985Ala)
c.2882A>C (p.Glu961Ala)
19g.50268291A>GCA406948855MYH14c.2858A>G (p.Glu953Gly)
c.2957A>G (p.Glu986Gly)
c.2834A>G (p.Glu945Gly)
c.-727-7700A>G (n.-727-7700A>G)
c.2978A>G (p.Glu993Gly)
c.2954A>G (p.Glu985Gly)
c.2882A>G (p.Glu961Gly)
 gnomAD v4
19g.50268291A>TCA406948856MYH14c.2858A>T (p.Glu953Val)
c.2957A>T (p.Glu986Val)
c.2834A>T (p.Glu945Val)
c.-727-7700A>T (n.-727-7700A>T)
c.2978A>T (p.Glu993Val)
c.2954A>T (p.Glu985Val)
c.2882A>T (p.Glu961Val)
19g.50268292G>ACA508176125MYH14c.2859G>A (p.Glu953=)
c.2958G>A (p.Glu986=)
c.2835G>A (p.Glu945=)
c.-727-7699G>A (n.-727-7699G>A)
c.2979G>A (p.Glu993=)
c.2955G>A (p.Glu985=)
c.2883G>A (p.Glu961=)
19g.50268292G>CCA406948857MYH14c.2859G>C (p.Glu953Asp)
c.2958G>C (p.Glu986Asp)
c.2835G>C (p.Glu945Asp)
c.-727-7699G>C (n.-727-7699G>C)
c.2979G>C (p.Glu993Asp)
c.2955G>C (p.Glu985Asp)
c.2883G>C (p.Glu961Asp)
19g.50268292G>TCA406948858MYH14c.2859G>T (p.Glu953Asp)
c.2958G>T (p.Glu986Asp)
c.2835G>T (p.Glu945Asp)
c.-727-7699G>T (n.-727-7699G>T)
c.2979G>T (p.Glu993Asp)
c.2955G>T (p.Glu985Asp)
c.2883G>T (p.Glu961Asp)
 gnomAD v4
19g.50268293G>ACA406948859MYH14c.2860G>A (p.Ala954Thr)
c.2959G>A (p.Ala987Thr)
c.2836G>A (p.Ala946Thr)
c.-727-7698G>A (n.-727-7698G>A)
c.2980G>A (p.Ala994Thr)
c.2956G>A (p.Ala986Thr)
c.2884G>A (p.Ala962Thr)
 gnomAD v4
19g.50268293G>CCA406948860MYH14c.2860G>C (p.Ala954Pro)
c.2959G>C (p.Ala987Pro)
c.2836G>C (p.Ala946Pro)
c.-727-7698G>C (n.-727-7698G>C)
c.2980G>C (p.Ala994Pro)
c.2956G>C (p.Ala986Pro)
c.2884G>C (p.Ala962Pro)
19g.50268293G>TCA406948861MYH14c.2860G>T (p.Ala954Ser)
c.2959G>T (p.Ala987Ser)
c.2836G>T (p.Ala946Ser)
c.-727-7698G>T (n.-727-7698G>T)
c.2980G>T (p.Ala994Ser)
c.2956G>T (p.Ala986Ser)
c.2884G>T (p.Ala962Ser)
 gnomAD v4
19g.50268294C>ACA406948862MYH14c.2861C>A (p.Ala954Asp)
c.2960C>A (p.Ala987Asp)
c.2837C>A (p.Ala946Asp)
c.-727-7697C>A (n.-727-7697C>A)
c.2981C>A (p.Ala994Asp)
c.2957C>A (p.Ala986Asp)
c.2885C>A (p.Ala962Asp)
 gnomAD v4
19g.50268294C>GCA406948863MYH14c.2861C>G (p.Ala954Gly)
c.2960C>G (p.Ala987Gly)
c.2837C>G (p.Ala946Gly)
c.-727-7697C>G (n.-727-7697C>G)
c.2981C>G (p.Ala994Gly)
c.2957C>G (p.Ala986Gly)
c.2885C>G (p.Ala962Gly)
19g.50268294C>TCA406948864MYH14c.2861C>T (p.Ala954Val)
c.2960C>T (p.Ala987Val)
c.2837C>T (p.Ala946Val)
c.-727-7697C>T (n.-727-7697C>T)
c.2981C>T (p.Ala994Val)
c.2957C>T (p.Ala986Val)
c.2885C>T (p.Ala962Val)
 gnomAD v4
19g.50268295T>ACA508176126MYH14c.2862T>A (p.Ala954=)
c.2961T>A (p.Ala987=)
c.2838T>A (p.Ala946=)
c.-727-7696T>A (n.-727-7696T>A)
c.2982T>A (p.Ala994=)
c.2958T>A (p.Ala986=)
c.2886T>A (p.Ala962=)
19g.50268295T>CCA508176127MYH14c.2862T>C (p.Ala954=)
c.2961T>C (p.Ala987=)
c.2838T>C (p.Ala946=)
c.-727-7696T>C (n.-727-7696T>C)
c.2982T>C (p.Ala994=)
c.2958T>C (p.Ala986=)
c.2886T>C (p.Ala962=)
19g.50268295T>GCA508176128MYH14c.2862T>G (p.Ala954=)
c.2961T>G (p.Ala987=)
c.2838T>G (p.Ala946=)
c.-727-7696T>G (n.-727-7696T>G)
c.2982T>G (p.Ala994=)
c.2958T>G (p.Ala986=)
c.2886T>G (p.Ala962=)
19g.50268296C>ACA406948867MYH14c.2863C>A (p.Arg955Ser)
c.2962C>A (p.Arg988Ser)
c.2839C>A (p.Arg947Ser)
c.-727-7695C>A (n.-727-7695C>A)
c.2983C>A (p.Arg995Ser)
c.2959C>A (p.Arg987Ser)
c.2887C>A (p.Arg963Ser)
 gnomAD v4
19g.50268296C=CA2340817247MYH14c.2863C= (p.Arg955=)
c.2962C= (p.Arg988=)
c.2839C= (p.Arg947=)
c.-727-7695C= (n.-727-7695C=)
c.2983C= (p.Arg995=)
c.2959C= (p.Arg987=)
c.2887C= (p.Arg963=)
19g.50268296C>GCA406948866MYH14c.2863C>G (p.Arg955Gly)
c.2962C>G (p.Arg988Gly)
c.2839C>G (p.Arg947Gly)
c.-727-7695C>G (n.-727-7695C>G)
c.2983C>G (p.Arg995Gly)
c.2959C>G (p.Arg987Gly)
c.2887C>G (p.Arg963Gly)
 gnomAD v4
19g.50268296C>TCA406948865MYH14c.2863C>T (p.Arg955Cys)
c.2962C>T (p.Arg988Cys)
c.2839C>T (p.Arg947Cys)
c.-727-7695C>T (n.-727-7695C>T)
c.2983C>T (p.Arg995Cys)
c.2959C>T (p.Arg987Cys)
c.2887C>T (p.Arg963Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.50268297G>ACA406948868MYH14c.2864G>A (p.Arg955His)
c.2963G>A (p.Arg988His)
c.2840G>A (p.Arg947His)
c.-727-7694G>A (n.-727-7694G>A)
c.2984G>A (p.Arg995His)
c.2960G>A (p.Arg987His)
c.2888G>A (p.Arg963His)
 dbSNP gnomAD v2 gnomAD v4
19g.50268297G>CCA406948870MYH14c.2864G>C (p.Arg955Pro)
c.2963G>C (p.Arg988Pro)
c.2840G>C (p.Arg947Pro)
c.-727-7694G>C (n.-727-7694G>C)
c.2984G>C (p.Arg995Pro)
c.2960G>C (p.Arg987Pro)
c.2888G>C (p.Arg963Pro)
19g.50268297G=CA2340817248MYH14c.2864G= (p.Arg955=)
c.2963G= (p.Arg988=)
c.2840G= (p.Arg947=)
c.-727-7694G= (n.-727-7694G=)
c.2984G= (p.Arg995=)
c.2960G= (p.Arg987=)
c.2888G= (p.Arg963=)
19g.50268297G>TCA406948869MYH14c.2864G>T (p.Arg955Leu)
c.2963G>T (p.Arg988Leu)
c.2840G>T (p.Arg947Leu)
c.-727-7694G>T (n.-727-7694G>T)
c.2984G>T (p.Arg995Leu)
c.2960G>T (p.Arg987Leu)
c.2888G>T (p.Arg963Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.50268298C>ACA508176129MYH14c.2865C>A (p.Arg955=)
c.2964C>A (p.Arg988=)
c.2841C>A (p.Arg947=)
c.-727-7693C>A (n.-727-7693C>A)
c.2985C>A (p.Arg995=)
c.2961C>A (p.Arg987=)
c.2889C>A (p.Arg963=)
 gnomAD v4
19g.50268298C>GCA508176130MYH14c.2865C>G (p.Arg955=)
c.2964C>G (p.Arg988=)
c.2841C>G (p.Arg947=)
c.-727-7693C>G (n.-727-7693C>G)
c.2985C>G (p.Arg995=)
c.2961C>G (p.Arg987=)
c.2889C>G (p.Arg963=)
 gnomAD v4
19g.50268298C>TCA508176131MYH14c.2865C>T (p.Arg955=)
c.2964C>T (p.Arg988=)
c.2841C>T (p.Arg947=)
c.-727-7693C>T (n.-727-7693C>T)
c.2985C>T (p.Arg995=)
c.2961C>T (p.Arg987=)
c.2889C>T (p.Arg963=)
 gnomAD v4
19g.50268299G>ACA9593079MYH14c.2866G>A (p.Val956Met)
c.2965G>A (p.Val989Met)
c.2842G>A (p.Val948Met)
c.-727-7692G>A (n.-727-7692G>A)
c.2986G>A (p.Val996Met)
c.2962G>A (p.Val988Met)
c.2890G>A (p.Val964Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.50268299G>CCA309561872MYH14c.2866G>C (p.Val956Leu)
c.2965G>C (p.Val989Leu)
c.2842G>C (p.Val948Leu)
c.-727-7692G>C (n.-727-7692G>C)
c.2986G>C (p.Val996Leu)
c.2962G>C (p.Val988Leu)
c.2890G>C (p.Val964Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.50268299G=CA2340817249MYH14c.2866G= (p.Val956=)
c.2965G= (p.Val989=)
c.2842G= (p.Val948=)
c.-727-7692G= (n.-727-7692G=)
c.2986G= (p.Val996=)
c.2962G= (p.Val988=)
c.2890G= (p.Val964=)
19g.50268299G>TCA406948871MYH14c.2866G>T (p.Val956Leu)
c.2965G>T (p.Val989Leu)
c.2842G>T (p.Val948Leu)
c.-727-7692G>T (n.-727-7692G>T)
c.2986G>T (p.Val996Leu)
c.2962G>T (p.Val988Leu)
c.2890G>T (p.Val964Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50268300T>ACA406948872MYH14c.2867T>A (p.Val956Glu)
c.2966T>A (p.Val989Glu)
c.2843T>A (p.Val948Glu)
c.-727-7691T>A (n.-727-7691T>A)
c.2987T>A (p.Val996Glu)
c.2963T>A (p.Val988Glu)
c.2891T>A (p.Val964Glu)
19g.50268300T>CCA406948873MYH14c.2867T>C (p.Val956Ala)
c.2966T>C (p.Val989Ala)
c.2843T>C (p.Val948Ala)
c.-727-7691T>C (n.-727-7691T>C)
c.2987T>C (p.Val996Ala)
c.2963T>C (p.Val988Ala)
c.2891T>C (p.Val964Ala)
19g.50268300T>GCA406948874MYH14c.2867T>G (p.Val956Gly)
c.2966T>G (p.Val989Gly)
c.2843T>G (p.Val948Gly)
c.-727-7691T>G (n.-727-7691T>G)
c.2987T>G (p.Val996Gly)
c.2963T>G (p.Val988Gly)
c.2891T>G (p.Val964Gly)
 dbSNP
19g.50268300T=CA2340817250MYH14c.2867T= (p.Val956=)
c.2966T= (p.Val989=)
c.2843T= (p.Val948=)
c.-727-7691T= (n.-727-7691T=)
c.2987T= (p.Val996=)
c.2963T= (p.Val988=)
c.2891T= (p.Val964=)
19g.50268301G>ACA508176133MYH14c.2868G>A (p.Val956=)
c.2967G>A (p.Val989=)
c.2844G>A (p.Val948=)
c.-727-7690G>A (n.-727-7690G>A)
c.2988G>A (p.Val996=)
c.2964G>A (p.Val988=)
c.2892G>A (p.Val964=)
 gnomAD v4
19g.50268301G>CCA508176134MYH14c.2868G>C (p.Val956=)
c.2967G>C (p.Val989=)
c.2844G>C (p.Val948=)
c.-727-7690G>C (n.-727-7690G>C)
c.2988G>C (p.Val996=)
c.2964G>C (p.Val988=)
c.2892G>C (p.Val964=)
19g.50268301G>TCA508176132MYH14c.2868G>T (p.Val956=)
c.2967G>T (p.Val989=)
c.2844G>T (p.Val948=)
c.-727-7690G>T (n.-727-7690G>T)
c.2988G>T (p.Val996=)
c.2964G>T (p.Val988=)
c.2892G>T (p.Val964=)
 gnomAD v4
19g.50268302G>ACA406948875MYH14c.2869G>A (p.Gly957Ser)
c.2968G>A (p.Gly990Ser)
c.2845G>A (p.Gly949Ser)
c.-727-7689G>A (n.-727-7689G>A)
c.2989G>A (p.Gly997Ser)
c.2965G>A (p.Gly989Ser)
c.2893G>A (p.Gly965Ser)
 ClinVar gnomAD v4
19g.50268302G>CCA406948876MYH14c.2869G>C (p.Gly957Arg)
c.2968G>C (p.Gly990Arg)
c.2845G>C (p.Gly949Arg)
c.-727-7689G>C (n.-727-7689G>C)
c.2989G>C (p.Gly997Arg)
c.2965G>C (p.Gly989Arg)
c.2893G>C (p.Gly965Arg)
19g.50268302G>TCA406948877MYH14c.2869G>T (p.Gly957Cys)
c.2968G>T (p.Gly990Cys)
c.2845G>T (p.Gly949Cys)
c.-727-7689G>T (n.-727-7689G>T)
c.2989G>T (p.Gly997Cys)
c.2965G>T (p.Gly989Cys)
c.2893G>T (p.Gly965Cys)
 gnomAD v4
19g.50268303G>ACA406948878MYH14c.2870G>A (p.Gly957Asp)
c.2969G>A (p.Gly990Asp)
c.2846G>A (p.Gly949Asp)
c.-727-7688G>A (n.-727-7688G>A)
c.2990G>A (p.Gly997Asp)
c.2966G>A (p.Gly989Asp)
c.2894G>A (p.Gly965Asp)
 gnomAD v4
19g.50268303G>CCA406948879MYH14c.2870G>C (p.Gly957Ala)
c.2969G>C (p.Gly990Ala)
c.2846G>C (p.Gly949Ala)
c.-727-7688G>C (n.-727-7688G>C)
c.2990G>C (p.Gly997Ala)
c.2966G>C (p.Gly989Ala)
c.2894G>C (p.Gly965Ala)
19g.50268303G>TCA406948880MYH14c.2870G>T (p.Gly957Val)
c.2969G>T (p.Gly990Val)
c.2846G>T (p.Gly949Val)
c.-727-7688G>T (n.-727-7688G>T)
c.2990G>T (p.Gly997Val)
c.2966G>T (p.Gly989Val)
c.2894G>T (p.Gly965Val)
 gnomAD v4
19g.50268304C>ACA508176136MYH14c.2871C>A (p.Gly957=)
c.2970C>A (p.Gly990=)
c.2847C>A (p.Gly949=)
c.-727-7687C>A (n.-727-7687C>A)
c.2991C>A (p.Gly997=)
c.2967C>A (p.Gly989=)
c.2895C>A (p.Gly965=)
 gnomAD v4
19g.50268304C=CA2340817251MYH14c.2871C= (p.Gly957=)
c.2970C= (p.Gly990=)
c.2847C= (p.Gly949=)
c.-727-7687C= (n.-727-7687C=)
c.2991C= (p.Gly997=)
c.2967C= (p.Gly989=)
c.2895C= (p.Gly965=)
19g.50268304C>GCA508176135MYH14c.2871C>G (p.Gly957=)
c.2970C>G (p.Gly990=)
c.2847C>G (p.Gly949=)
c.-727-7687C>G (n.-727-7687C>G)
c.2991C>G (p.Gly997=)
c.2967C>G (p.Gly989=)
c.2895C>G (p.Gly965=)
 dbSNP
19g.50268304C>TCA9593080MYH14c.2871C>T (p.Gly957=)
c.2970C>T (p.Gly990=)
c.2847C>T (p.Gly949=)
c.-727-7687C>T (n.-727-7687C>T)
c.2991C>T (p.Gly997=)
c.2967C>T (p.Gly989=)
c.2895C>T (p.Gly965=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50268304_50268307delinsCGAGCA2340817252MYH14c.2871_2874delinsCGAG (p.Gly957=)
c.2970_2973delinsCGAG (p.Gly990=)
c.2847_2850delinsCGAG (p.Gly949=)
c.-727-7687_-727-7684delinsCGAG (n.-727-7687_-727-7684delinsCGAG)
c.2991_2994delinsCGAG (p.Gly997=)
c.2967_2970delinsCGAG (p.Gly989=)
c.2895_2898delinsCGAG (p.Gly965=)
19g.50268305G>ACA309561876MYH14c.2872G>A (p.Glu958Lys)
c.2971G>A (p.Glu991Lys)
c.2848G>A (p.Glu950Lys)
c.-727-7686G>A (n.-727-7686G>A)
c.2992G>A (p.Glu998Lys)
c.2968G>A (p.Glu990Lys)
c.2896G>A (p.Glu966Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50268305G>CCA406948882MYH14c.2872G>C (p.Glu958Gln)
c.2971G>C (p.Glu991Gln)
c.2848G>C (p.Glu950Gln)
c.-727-7686G>C (n.-727-7686G>C)
c.2992G>C (p.Glu998Gln)
c.2968G>C (p.Glu990Gln)
c.2896G>C (p.Glu966Gln)
19g.50268305G=CA2340817253MYH14c.2872G= (p.Glu958=)
c.2971G= (p.Glu991=)
c.2848G= (p.Glu950=)
c.-727-7686G= (n.-727-7686G=)
c.2992G= (p.Glu998=)
c.2968G= (p.Glu990=)
c.2896G= (p.Glu966=)
19g.50268305G>TCA406948881MYH14c.2872G>T (p.Glu958Ter)
c.2971G>T (p.Glu991Ter)
c.2848G>T (p.Glu950Ter)
c.-727-7686G>T (n.-727-7686G>T)
c.2992G>T (p.Glu998Ter)
c.2968G>T (p.Glu990Ter)
c.2896G>T (p.Glu966Ter)
 gnomAD v4
19g.50268314_50268316delCA633896730MYH14c.2881_2883del (p.Glu961del)
c.2980_2982del (p.Glu994del)
c.2857_2859del (p.Glu953del)
c.-727-7677_-727-7675del (n.-727-7677_-727-7675del)
c.3001_3003del (p.Glu1001del)
c.2977_2979del (p.Glu993del)
c.2905_2907del (p.Glu969del)
 dbSNP gnomAD v2 gnomAD v4
19g.50268306A=CA2340817254MYH14c.2873A= (p.Glu958=)
c.2972A= (p.Glu991=)
c.2849A= (p.Glu950=)
c.-727-7685A= (n.-727-7685A=)
c.2993A= (p.Glu998=)
c.2969A= (p.Glu990=)
c.2897A= (p.Glu966=)
19g.50268306A>CCA406948883MYH14c.2873A>C (p.Glu958Ala)
c.2972A>C (p.Glu991Ala)
c.2849A>C (p.Glu950Ala)
c.-727-7685A>C (n.-727-7685A>C)
c.2993A>C (p.Glu998Ala)
c.2969A>C (p.Glu990Ala)
c.2897A>C (p.Glu966Ala)
19g.50268306A>GCA406948884MYH14c.2873A>G (p.Glu958Gly)
c.2972A>G (p.Glu991Gly)
c.2849A>G (p.Glu950Gly)
c.-727-7685A>G (n.-727-7685A>G)
c.2993A>G (p.Glu998Gly)
c.2969A>G (p.Glu990Gly)
c.2897A>G (p.Glu966Gly)
 dbSNP gnomAD v4
19g.50268306A>TCA406948885MYH14c.2873A>T (p.Glu958Val)
c.2972A>T (p.Glu991Val)
c.2849A>T (p.Glu950Val)
c.-727-7685A>T (n.-727-7685A>T)
c.2993A>T (p.Glu998Val)
c.2969A>T (p.Glu990Val)
c.2897A>T (p.Glu966Val)
19g.50268307G>ACA508176137MYH14c.2874G>A (p.Glu958=)
c.2973G>A (p.Glu991=)
c.2850G>A (p.Glu950=)
c.-727-7684G>A (n.-727-7684G>A)
c.2994G>A (p.Glu998=)
c.2970G>A (p.Glu990=)
c.2898G>A (p.Glu966=)
 gnomAD v4
19g.50268307G>CCA406948886MYH14c.2874G>C (p.Glu958Asp)
c.2973G>C (p.Glu991Asp)
c.2850G>C (p.Glu950Asp)
c.-727-7684G>C (n.-727-7684G>C)
c.2994G>C (p.Glu998Asp)
c.2970G>C (p.Glu990Asp)
c.2898G>C (p.Glu966Asp)
 gnomAD v4
19g.50268307G>TCA406948887MYH14c.2874G>T (p.Glu958Asp)
c.2973G>T (p.Glu991Asp)
c.2850G>T (p.Glu950Asp)
c.-727-7684G>T (n.-727-7684G>T)
c.2994G>T (p.Glu998Asp)
c.2970G>T (p.Glu990Asp)
c.2898G>T (p.Glu966Asp)
 gnomAD v4
19g.50268308G>ACA406948888MYH14c.2875G>A (p.Glu959Lys)
c.2974G>A (p.Glu992Lys)
c.2851G>A (p.Glu951Lys)
c.-727-7683G>A (n.-727-7683G>A)
c.2995G>A (p.Glu999Lys)
c.2971G>A (p.Glu991Lys)
c.2899G>A (p.Glu967Lys)
19g.50268308G>CCA406948889MYH14c.2875G>C (p.Glu959Gln)
c.2974G>C (p.Glu992Gln)
c.2851G>C (p.Glu951Gln)
c.-727-7683G>C (n.-727-7683G>C)
c.2995G>C (p.Glu999Gln)
c.2971G>C (p.Glu991Gln)
c.2899G>C (p.Glu967Gln)
19g.50268308G=CA2340817255MYH14c.2875G= (p.Glu959=)
c.2974G= (p.Glu992=)
c.2851G= (p.Glu951=)
c.-727-7683G= (n.-727-7683G=)
c.2995G= (p.Glu999=)
c.2971G= (p.Glu991=)
c.2899G= (p.Glu967=)
19g.50268308G>TCA406948890MYH14c.2875G>T (p.Glu959Ter)
c.2974G>T (p.Glu992Ter)
c.2851G>T (p.Glu951Ter)
c.-727-7683G>T (n.-727-7683G>T)
c.2995G>T (p.Glu999Ter)
c.2971G>T (p.Glu991Ter)
c.2899G>T (p.Glu967Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.50268309A=CA2340817256MYH14c.2876A= (p.Glu959=)
c.2975A= (p.Glu992=)
c.2852A= (p.Glu951=)
c.-727-7682A= (n.-727-7682A=)
c.2996A= (p.Glu999=)
c.2972A= (p.Glu991=)
c.2900A= (p.Glu967=)
19g.50268309A>CCA406948891MYH14c.2876A>C (p.Glu959Ala)
c.2975A>C (p.Glu992Ala)
c.2852A>C (p.Glu951Ala)
c.-727-7682A>C (n.-727-7682A>C)
c.2996A>C (p.Glu999Ala)
c.2972A>C (p.Glu991Ala)
c.2900A>C (p.Glu967Ala)
19g.50268309A>GCA406948892MYH14c.2876A>G (p.Glu959Gly)
c.2975A>G (p.Glu992Gly)
c.2852A>G (p.Glu951Gly)
c.-727-7682A>G (n.-727-7682A>G)
c.2996A>G (p.Glu999Gly)
c.2972A>G (p.Glu991Gly)
c.2900A>G (p.Glu967Gly)
 dbSNP
19g.50268309A>TCA406948893MYH14c.2876A>T (p.Glu959Val)
c.2975A>T (p.Glu992Val)
c.2852A>T (p.Glu951Val)
c.-727-7682A>T (n.-727-7682A>T)
c.2996A>T (p.Glu999Val)
c.2972A>T (p.Glu991Val)
c.2900A>T (p.Glu967Val)
19g.50268310G>ACA508176138MYH14c.2877G>A (p.Glu959=)
c.2976G>A (p.Glu992=)
c.2853G>A (p.Glu951=)
c.-727-7681G>A (n.-727-7681G>A)
c.2997G>A (p.Glu999=)
c.2973G>A (p.Glu991=)
c.2901G>A (p.Glu967=)
 dbSNP gnomAD v4
19g.50268310G>CCA406948895MYH14c.2877G>C (p.Glu959Asp)
c.2976G>C (p.Glu992Asp)
c.2853G>C (p.Glu951Asp)
c.-727-7681G>C (n.-727-7681G>C)
c.2997G>C (p.Glu999Asp)
c.2973G>C (p.Glu991Asp)
c.2901G>C (p.Glu967Asp)
19g.50268310G=CA2340817257MYH14c.2877G= (p.Glu959=)
c.2976G= (p.Glu992=)
c.2853G= (p.Glu951=)
c.-727-7681G= (n.-727-7681G=)
c.2997G= (p.Glu999=)
c.2973G= (p.Glu991=)
c.2901G= (p.Glu967=)
19g.50268310G>TCA406948894MYH14c.2877G>T (p.Glu959Asp)
c.2976G>T (p.Glu992Asp)
c.2853G>T (p.Glu951Asp)
c.-727-7681G>T (n.-727-7681G>T)
c.2997G>T (p.Glu999Asp)
c.2973G>T (p.Glu991Asp)
c.2901G>T (p.Glu967Asp)
 gnomAD v4
19g.50268311G>ACA406948896MYH14c.2878G>A (p.Glu960Lys)
c.2977G>A (p.Glu993Lys)
c.2854G>A (p.Glu952Lys)
c.-727-7680G>A (n.-727-7680G>A)
c.2998G>A (p.Glu1000Lys)
c.2974G>A (p.Glu992Lys)
c.2902G>A (p.Glu968Lys)
19g.50268311G>CCA406948897MYH14c.2878G>C (p.Glu960Gln)
c.2977G>C (p.Glu993Gln)
c.2854G>C (p.Glu952Gln)
c.-727-7680G>C (n.-727-7680G>C)
c.2998G>C (p.Glu1000Gln)
c.2974G>C (p.Glu992Gln)
c.2902G>C (p.Glu968Gln)
19g.50268311G>TCA406948898MYH14c.2878G>T (p.Glu960Ter)
c.2977G>T (p.Glu993Ter)
c.2854G>T (p.Glu952Ter)
c.-727-7680G>T (n.-727-7680G>T)
c.2998G>T (p.Glu1000Ter)
c.2974G>T (p.Glu992Ter)
c.2902G>T (p.Glu968Ter)
19g.50268312A=CA2340817258MYH14c.2879A= (p.Glu960=)
c.2978A= (p.Glu993=)
c.2855A= (p.Glu952=)
c.-727-7679A= (n.-727-7679A=)
c.2999A= (p.Glu1000=)
c.2975A= (p.Glu992=)
c.2903A= (p.Glu968=)
19g.50268312A>CCA406948899MYH14c.2879A>C (p.Glu960Ala)
c.2978A>C (p.Glu993Ala)
c.2855A>C (p.Glu952Ala)
c.-727-7679A>C (n.-727-7679A>C)
c.2999A>C (p.Glu1000Ala)
c.2975A>C (p.Glu992Ala)
c.2903A>C (p.Glu968Ala)
19g.50268312A>GCA406948900MYH14c.2879A>G (p.Glu960Gly)
c.2978A>G (p.Glu993Gly)
c.2855A>G (p.Glu952Gly)
c.-727-7679A>G (n.-727-7679A>G)
c.2999A>G (p.Glu1000Gly)
c.2975A>G (p.Glu992Gly)
c.2903A>G (p.Glu968Gly)
 dbSNP gnomAD v4
19g.50268312A>TCA406948901MYH14c.2879A>T (p.Glu960Val)
c.2978A>T (p.Glu993Val)
c.2855A>T (p.Glu952Val)
c.-727-7679A>T (n.-727-7679A>T)
c.2999A>T (p.Glu1000Val)
c.2975A>T (p.Glu992Val)
c.2903A>T (p.Glu968Val)
19g.50268313G>ACA508176139MYH14c.2880G>A (p.Glu960=)
c.2979G>A (p.Glu993=)
c.2856G>A (p.Glu952=)
c.-727-7678G>A (n.-727-7678G>A)
c.3000G>A (p.Glu1000=)
c.2976G>A (p.Glu992=)
c.2904G>A (p.Glu968=)
19g.50268313G>CCA406948902MYH14c.2880G>C (p.Glu960Asp)
c.2979G>C (p.Glu993Asp)
c.2856G>C (p.Glu952Asp)
c.-727-7678G>C (n.-727-7678G>C)
c.3000G>C (p.Glu1000Asp)
c.2976G>C (p.Glu992Asp)
c.2904G>C (p.Glu968Asp)
 gnomAD v4
19g.50268313G>TCA406948903MYH14c.2880G>T (p.Glu960Asp)
c.2979G>T (p.Glu993Asp)
c.2856G>T (p.Glu952Asp)
c.-727-7678G>T (n.-727-7678G>T)
c.3000G>T (p.Glu1000Asp)
c.2976G>T (p.Glu992Asp)
c.2904G>T (p.Glu968Asp)
 gnomAD v4
19g.50268314G>ACA406948904MYH14c.2881G>A (p.Glu961Lys)
c.2980G>A (p.Glu994Lys)
c.2857G>A (p.Glu953Lys)
c.-727-7677G>A (n.-727-7677G>A)
c.3001G>A (p.Glu1001Lys)
c.2977G>A (p.Glu993Lys)
c.2905G>A (p.Glu969Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.50268314G>CCA406948905MYH14c.2881G>C (p.Glu961Gln)
c.2980G>C (p.Glu994Gln)
c.2857G>C (p.Glu953Gln)
c.-727-7677G>C (n.-727-7677G>C)
c.3001G>C (p.Glu1001Gln)
c.2977G>C (p.Glu993Gln)
c.2905G>C (p.Glu969Gln)
19g.50268314G=CA2340817259MYH14c.2881G= (p.Glu961=)
c.2980G= (p.Glu994=)
c.2857G= (p.Glu953=)
c.-727-7677G= (n.-727-7677G=)
c.3001G= (p.Glu1001=)
c.2977G= (p.Glu993=)
c.2905G= (p.Glu969=)
19g.50268314G>TCA406948906MYH14c.2881G>T (p.Glu961Ter)
c.2980G>T (p.Glu994Ter)
c.2857G>T (p.Glu953Ter)
c.-727-7677G>T (n.-727-7677G>T)
c.3001G>T (p.Glu1001Ter)
c.2977G>T (p.Glu993Ter)
c.2905G>T (p.Glu969Ter)
 gnomAD v4
19g.50268315A=CA2340817260MYH14c.2882A= (p.Glu961=)
c.2981A= (p.Glu994=)
c.2858A= (p.Glu953=)
c.-727-7676A= (n.-727-7676A=)
c.3002A= (p.Glu1001=)
c.2978A= (p.Glu993=)
c.2906A= (p.Glu969=)
19g.50268315A>CCA406948907MYH14c.2882A>C (p.Glu961Ala)
c.2981A>C (p.Glu994Ala)
c.2858A>C (p.Glu953Ala)
c.-727-7676A>C (n.-727-7676A>C)
c.3002A>C (p.Glu1001Ala)
c.2978A>C (p.Glu993Ala)
c.2906A>C (p.Glu969Ala)
19g.50268315A>GCA406948908MYH14c.2882A>G (p.Glu961Gly)
c.2981A>G (p.Glu994Gly)
c.2858A>G (p.Glu953Gly)
c.-727-7676A>G (n.-727-7676A>G)
c.3002A>G (p.Glu1001Gly)
c.2978A>G (p.Glu993Gly)
c.2906A>G (p.Glu969Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.50268315A>TCA406948909MYH14c.2882A>T (p.Glu961Val)
c.2981A>T (p.Glu994Val)
c.2858A>T (p.Glu953Val)
c.-727-7676A>T (n.-727-7676A>T)
c.3002A>T (p.Glu1001Val)
c.2978A>T (p.Glu993Val)
c.2906A>T (p.Glu969Val)
19g.50268315_50268317delCA2586545545MYH14c.2882_2884del (p.Glu961_Cys962delinsGly)
c.2981_2983del (p.Glu994_Cys995delinsGly)
c.2858_2860del (p.Glu953_Cys954delinsGly)
c.-727-7676_-727-7674del (n.-727-7676_-727-7674del)
c.3002_3004del (p.Glu1001_Cys1002delinsGly)
c.2978_2980del (p.Glu993_Cys994delinsGly)
c.2906_2908del (p.Glu969_Cys970delinsGly)
 gnomAD v4
19g.50268315_50268317delinsAGTCA2340817261MYH14c.2882_2884delinsAGT (p.Glu961=)
c.2981_2983delinsAGT (p.Glu994=)
c.2858_2860delinsAGT (p.Glu953=)
c.-727-7676_-727-7674delinsAGT (n.-727-7676_-727-7674delinsAGT)
c.3002_3004delinsAGT (p.Glu1001=)
c.2978_2980delinsAGT (p.Glu993=)
c.2906_2908delinsAGT (p.Glu969=)
19g.50268316G>ACA508176140MYH14c.2883G>A (p.Glu961=)
c.2982G>A (p.Glu994=)
c.2859G>A (p.Glu953=)
c.-727-7675G>A (n.-727-7675G>A)
c.3003G>A (p.Glu1001=)
c.2979G>A (p.Glu993=)
c.2907G>A (p.Glu969=)
 dbSNP gnomAD v2 gnomAD v4
19g.50268316G>CCA406948911MYH14c.2883G>C (p.Glu961Asp)
c.2982G>C (p.Glu994Asp)
c.2859G>C (p.Glu953Asp)
c.-727-7675G>C (n.-727-7675G>C)
c.3003G>C (p.Glu1001Asp)
c.2979G>C (p.Glu993Asp)
c.2907G>C (p.Glu969Asp)
19g.50268316G=CA2340817263MYH14c.2883G= (p.Glu961=)
c.2982G= (p.Glu994=)
c.2859G= (p.Glu953=)
c.-727-7675G= (n.-727-7675G=)
c.3003G= (p.Glu1001=)
c.2979G= (p.Glu993=)
c.2907G= (p.Glu969=)
19g.50268316G>TCA406948910MYH14c.2883G>T (p.Glu961Asp)
c.2982G>T (p.Glu994Asp)
c.2859G>T (p.Glu953Asp)
c.-727-7675G>T (n.-727-7675G>T)
c.3003G>T (p.Glu1001Asp)
c.2979G>T (p.Glu993Asp)
c.2907G>T (p.Glu969Asp)
19g.50268317_50268318delCA2340817262MYH14c.2884_2885del (p.Cys962GlnfsTer23)
c.2983_2984del (p.Cys995GlnfsTer23)
c.2860_2861del (p.Cys954GlnfsTer23)
c.-727-7674_-727-7673del (n.-727-7674_-727-7673del)
c.3004_3005del (p.Cys1002GlnfsTer23)
c.2980_2981del (p.Cys994GlnfsTer23)
c.2908_2909del (p.Cys970GlnfsTer23)
 dbSNP gnomAD v4
19g.50268317T>ACA406948912MYH14c.2884T>A (p.Cys962Ser)
c.2983T>A (p.Cys995Ser)
c.2860T>A (p.Cys954Ser)
c.-727-7674T>A (n.-727-7674T>A)
c.3004T>A (p.Cys1002Ser)
c.2980T>A (p.Cys994Ser)
c.2908T>A (p.Cys970Ser)
19g.50268317T>CCA406948913MYH14c.2884T>C (p.Cys962Arg)
c.2983T>C (p.Cys995Arg)
c.2860T>C (p.Cys954Arg)
c.-727-7674T>C (n.-727-7674T>C)
c.3004T>C (p.Cys1002Arg)
c.2980T>C (p.Cys994Arg)
c.2908T>C (p.Cys970Arg)
 gnomAD v4
19g.50268317T>GCA406948914MYH14c.2884T>G (p.Cys962Gly)
c.2983T>G (p.Cys995Gly)
c.2860T>G (p.Cys954Gly)
c.-727-7674T>G (n.-727-7674T>G)
c.3004T>G (p.Cys1002Gly)
c.2980T>G (p.Cys994Gly)
c.2908T>G (p.Cys970Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.50268317T=CA2340817264MYH14c.2884T= (p.Cys962=)
c.2983T= (p.Cys995=)
c.2860T= (p.Cys954=)
c.-727-7674T= (n.-727-7674T=)
c.3004T= (p.Cys1002=)
c.2980T= (p.Cys994=)
c.2908T= (p.Cys970=)
19g.50268318G>ACA406948915MYH14c.2885G>A (p.Cys962Tyr)
c.2984G>A (p.Cys995Tyr)
c.2861G>A (p.Cys954Tyr)
c.-727-7673G>A (n.-727-7673G>A)
c.3005G>A (p.Cys1002Tyr)
c.2981G>A (p.Cys994Tyr)
c.2909G>A (p.Cys970Tyr)
 gnomAD v4
19g.50268318G>CCA406948916MYH14c.2885G>C (p.Cys962Ser)
c.2984G>C (p.Cys995Ser)
c.2861G>C (p.Cys954Ser)
c.-727-7673G>C (n.-727-7673G>C)
c.3005G>C (p.Cys1002Ser)
c.2981G>C (p.Cys994Ser)
c.2909G>C (p.Cys970Ser)
 gnomAD v4
19g.50268318G>TCA406948917MYH14c.2885G>T (p.Cys962Phe)
c.2984G>T (p.Cys995Phe)
c.2861G>T (p.Cys954Phe)
c.-727-7673G>T (n.-727-7673G>T)
c.3005G>T (p.Cys1002Phe)
c.2981G>T (p.Cys994Phe)
c.2909G>T (p.Cys970Phe)
 gnomAD v4
19g.50268319C>ACA406948919MYH14c.2886C>A (p.Cys962Ter)
c.2985C>A (p.Cys995Ter)
c.2862C>A (p.Cys954Ter)
c.-727-7672C>A (n.-727-7672C>A)
c.3006C>A (p.Cys1002Ter)
c.2982C>A (p.Cys994Ter)
c.2910C>A (p.Cys970Ter)
 dbSNP gnomAD v4
19g.50268319C=CA2340817265MYH14c.2886C= (p.Cys962=)
c.2985C= (p.Cys995=)
c.2862C= (p.Cys954=)
c.-727-7672C= (n.-727-7672C=)
c.3006C= (p.Cys1002=)
c.2982C= (p.Cys994=)
c.2910C= (p.Cys970=)
19g.50268319C>GCA406948918MYH14c.2886C>G (p.Cys962Trp)
c.2985C>G (p.Cys995Trp)
c.2862C>G (p.Cys954Trp)
c.-727-7672C>G (n.-727-7672C>G)
c.3006C>G (p.Cys1002Trp)
c.2982C>G (p.Cys994Trp)
c.2910C>G (p.Cys970Trp)
19g.50268319C>TCA508176141MYH14c.2886C>T (p.Cys962=)
c.2985C>T (p.Cys995=)
c.2862C>T (p.Cys954=)
c.-727-7672C>T (n.-727-7672C>T)
c.3006C>T (p.Cys1002=)
c.2982C>T (p.Cys994=)
c.2910C>T (p.Cys970=)
 gnomAD v4
19g.50268320A>CCA406948920MYH14c.2887A>C (p.Ser963Arg)
c.2986A>C (p.Ser996Arg)
c.2863A>C (p.Ser955Arg)
c.-727-7671A>C (n.-727-7671A>C)
c.3007A>C (p.Ser1003Arg)
c.2983A>C (p.Ser995Arg)
c.2911A>C (p.Ser971Arg)
19g.50268320A>GCA406948921MYH14c.2887A>G (p.Ser963Gly)
c.2986A>G (p.Ser996Gly)
c.2863A>G (p.Ser955Gly)
c.-727-7671A>G (n.-727-7671A>G)
c.3007A>G (p.Ser1003Gly)
c.2983A>G (p.Ser995Gly)
c.2911A>G (p.Ser971Gly)
 gnomAD v4
19g.50268320A>TCA406948922MYH14c.2887A>T (p.Ser963Cys)
c.2986A>T (p.Ser996Cys)
c.2863A>T (p.Ser955Cys)
c.-727-7671A>T (n.-727-7671A>T)
c.3007A>T (p.Ser1003Cys)
c.2983A>T (p.Ser995Cys)
c.2911A>T (p.Ser971Cys)
19g.50268321G>ACA406948923MYH14c.2888G>A (p.Ser963Asn)
c.2987G>A (p.Ser996Asn)
c.2864G>A (p.Ser955Asn)
c.-727-7670G>A (n.-727-7670G>A)
c.3008G>A (p.Ser1003Asn)
c.2984G>A (p.Ser995Asn)
c.2912G>A (p.Ser971Asn)
 gnomAD v4
19g.50268321G>CCA406948924MYH14c.2888G>C (p.Ser963Thr)
c.2987G>C (p.Ser996Thr)
c.2864G>C (p.Ser955Thr)
c.-727-7670G>C (n.-727-7670G>C)
c.3008G>C (p.Ser1003Thr)
c.2984G>C (p.Ser995Thr)
c.2912G>C (p.Ser971Thr)
19g.50268321G>TCA406948925MYH14c.2888G>T (p.Ser963Ile)
c.2987G>T (p.Ser996Ile)
c.2864G>T (p.Ser955Ile)
c.-727-7670G>T (n.-727-7670G>T)
c.3008G>T (p.Ser1003Ile)
c.2984G>T (p.Ser995Ile)
c.2912G>T (p.Ser971Ile)
 gnomAD v4
19g.50268322C>ACA406948926MYH14c.2889C>A (p.Ser963Arg)
c.2988C>A (p.Ser996Arg)
c.2865C>A (p.Ser955Arg)
c.-727-7669C>A (n.-727-7669C>A)
c.3009C>A (p.Ser1003Arg)
c.2985C>A (p.Ser995Arg)
c.2913C>A (p.Ser971Arg)
 gnomAD v4
19g.50268322C=CA2340817266MYH14c.2889C= (p.Ser963=)
c.2988C= (p.Ser996=)
c.2865C= (p.Ser955=)
c.-727-7669C= (n.-727-7669C=)
c.3009C= (p.Ser1003=)
c.2985C= (p.Ser995=)
c.2913C= (p.Ser971=)
19g.50268322C>GCA406948927MYH14c.2889C>G (p.Ser963Arg)
c.2988C>G (p.Ser996Arg)
c.2865C>G (p.Ser955Arg)
c.-727-7669C>G (n.-727-7669C>G)
c.3009C>G (p.Ser1003Arg)
c.2985C>G (p.Ser995Arg)
c.2913C>G (p.Ser971Arg)
 ClinVar dbSNP gnomAD v4
19g.50268322C>TCA9593081MYH14c.2889C>T (p.Ser963=)
c.2988C>T (p.Ser996=)
c.2865C>T (p.Ser955=)
c.-727-7669C>T (n.-727-7669C>T)
c.3009C>T (p.Ser1003=)
c.2985C>T (p.Ser995=)
c.2913C>T (p.Ser971=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50268323C>ACA406948928MYH14c.2890C>A (p.Arg964Ser)
c.2989C>A (p.Arg997Ser)
c.2866C>A (p.Arg956Ser)
c.-727-7668C>A (n.-727-7668C>A)
c.3010C>A (p.Arg1004Ser)
c.2986C>A (p.Arg996Ser)
c.2914C>A (p.Arg972Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.50268323C=CA2340817267MYH14c.2890C= (p.Arg964=)
c.2989C= (p.Arg997=)
c.2866C= (p.Arg956=)
c.-727-7668C= (n.-727-7668C=)
c.3010C= (p.Arg1004=)
c.2986C= (p.Arg996=)
c.2914C= (p.Arg972=)
19g.50268323C>GCA406948930MYH14c.2890C>G (p.Arg964Gly)
c.2989C>G (p.Arg997Gly)
c.2866C>G (p.Arg956Gly)
c.-727-7668C>G (n.-727-7668C>G)
c.3010C>G (p.Arg1004Gly)
c.2986C>G (p.Arg996Gly)
c.2914C>G (p.Arg972Gly)
19g.50268323C>TCA406948929MYH14c.2890C>T (p.Arg964Cys)
c.2989C>T (p.Arg997Cys)
c.2866C>T (p.Arg956Cys)
c.-727-7668C>T (n.-727-7668C>T)
c.3010C>T (p.Arg1004Cys)
c.2986C>T (p.Arg996Cys)
c.2914C>T (p.Arg972Cys)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
19g.50268324G>ACA9593082MYH14c.2891G>A (p.Arg964His)
c.2990G>A (p.Arg997His)
c.2867G>A (p.Arg956His)
c.-727-7667G>A (n.-727-7667G>A)
c.3011G>A (p.Arg1004His)
c.2987G>A (p.Arg996His)
c.2915G>A (p.Arg972His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.50268324G>CCA406948931MYH14c.2891G>C (p.Arg964Pro)
c.2990G>C (p.Arg997Pro)
c.2867G>C (p.Arg956Pro)
c.-727-7667G>C (n.-727-7667G>C)
c.3011G>C (p.Arg1004Pro)
c.2987G>C (p.Arg996Pro)
c.2915G>C (p.Arg972Pro)
 gnomAD v4
19g.50268324G=CA2340817268MYH14c.2891G= (p.Arg964=)
c.2990G= (p.Arg997=)
c.2867G= (p.Arg956=)
c.-727-7667G= (n.-727-7667G=)
c.3011G= (p.Arg1004=)
c.2987G= (p.Arg996=)
c.2915G= (p.Arg972=)
19g.50268324G>TCA406948932MYH14c.2891G>T (p.Arg964Leu)
c.2990G>T (p.Arg997Leu)
c.2867G>T (p.Arg956Leu)
c.-727-7667G>T (n.-727-7667G>T)
c.3011G>T (p.Arg1004Leu)
c.2987G>T (p.Arg996Leu)
c.2915G>T (p.Arg972Leu)
 gnomAD v4
19g.50268325T>ACA508176142MYH14c.2892T>A (p.Arg964=)
c.2991T>A (p.Arg997=)
c.2868T>A (p.Arg956=)
c.-727-7666T>A (n.-727-7666T>A)
c.3012T>A (p.Arg1004=)
c.2988T>A (p.Arg996=)
c.2916T>A (p.Arg972=)
19g.50268325T>CCA508176143MYH14c.2892T>C (p.Arg964=)
c.2991T>C (p.Arg997=)
c.2868T>C (p.Arg956=)
c.-727-7666T>C (n.-727-7666T>C)
c.3012T>C (p.Arg1004=)
c.2988T>C (p.Arg996=)
c.2916T>C (p.Arg972=)
 gnomAD v4
19g.50268325T>GCA508176144MYH14c.2892T>G (p.Arg964=)
c.2991T>G (p.Arg997=)
c.2868T>G (p.Arg956=)
c.-727-7666T>G (n.-727-7666T>G)
c.3012T>G (p.Arg1004=)
c.2988T>G (p.Arg996=)
c.2916T>G (p.Arg972=)
19g.50268326C>ACA406948933MYH14c.2893C>A (p.Gln965Lys)
c.2992C>A (p.Gln998Lys)
c.2869C>A (p.Gln957Lys)
c.-727-7665C>A (n.-727-7665C>A)
c.3013C>A (p.Gln1005Lys)
c.2989C>A (p.Gln997Lys)
c.2917C>A (p.Gln973Lys)
 gnomAD v4
19g.50268326C=CA2340817269MYH14c.2893C= (p.Gln965=)
c.2992C= (p.Gln998=)
c.2869C= (p.Gln957=)
c.-727-7665C= (n.-727-7665C=)
c.3013C= (p.Gln1005=)
c.2989C= (p.Gln997=)
c.2917C= (p.Gln973=)
19g.50268326C>GCA406948934MYH14c.2893C>G (p.Gln965Glu)
c.2992C>G (p.Gln998Glu)
c.2869C>G (p.Gln957Glu)
c.-727-7665C>G (n.-727-7665C>G)
c.3013C>G (p.Gln1005Glu)
c.2989C>G (p.Gln997Glu)
c.2917C>G (p.Gln973Glu)
 gnomAD v4
19g.50268326C>TCA406948935MYH14c.2893C>T (p.Gln965Ter)
c.2992C>T (p.Gln998Ter)
c.2869C>T (p.Gln957Ter)
c.-727-7665C>T (n.-727-7665C>T)
c.3013C>T (p.Gln1005Ter)
c.2989C>T (p.Gln997Ter)
c.2917C>T (p.Gln973Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.50268327A>CCA406948936MYH14c.2894A>C (p.Gln965Pro)
c.2993A>C (p.Gln998Pro)
c.2870A>C (p.Gln957Pro)
c.-727-7664A>C (n.-727-7664A>C)
c.3014A>C (p.Gln1005Pro)
c.2990A>C (p.Gln997Pro)
c.2918A>C (p.Gln973Pro)
19g.50268327A>GCA406948937MYH14c.2894A>G (p.Gln965Arg)
c.2993A>G (p.Gln998Arg)
c.2870A>G (p.Gln957Arg)
c.-727-7664A>G (n.-727-7664A>G)
c.3014A>G (p.Gln1005Arg)
c.2990A>G (p.Gln997Arg)
c.2918A>G (p.Gln973Arg)
 gnomAD v4
19g.50268327A>TCA406948938MYH14c.2894A>T (p.Gln965Leu)
c.2993A>T (p.Gln998Leu)
c.2870A>T (p.Gln957Leu)
c.-727-7664A>T (n.-727-7664A>T)
c.3014A>T (p.Gln1005Leu)
c.2990A>T (p.Gln997Leu)
c.2918A>T (p.Gln973Leu)
19g.50268329delCA2840750014MYH14c.2896del (p.Met966CysfsTer15)
c.2995del (p.Met999CysfsTer15)
c.2872del (p.Met958CysfsTer15)
c.-727-7662del (n.-727-7662del)
c.3016del (p.Met1006CysfsTer15)
c.2992del (p.Met998CysfsTer15)
c.2920del (p.Met974CysfsTer15)
19g.50268328A>CCA406948939MYH14c.2895A>C (p.Gln965His)
c.2994A>C (p.Gln998His)
c.2871A>C (p.Gln957His)
c.-727-7663A>C (n.-727-7663A>C)
c.3015A>C (p.Gln1005His)
c.2991A>C (p.Gln997His)
c.2919A>C (p.Gln973His)
19g.50268328A>GCA508176145MYH14c.2895A>G (p.Gln965=)
c.2994A>G (p.Gln998=)
c.2871A>G (p.Gln957=)
c.-727-7663A>G (n.-727-7663A>G)
c.3015A>G (p.Gln1005=)
c.2991A>G (p.Gln997=)
c.2919A>G (p.Gln973=)
 gnomAD v4
19g.50268328A>TCA406948940MYH14c.2895A>T (p.Gln965His)
c.2994A>T (p.Gln998His)
c.2871A>T (p.Gln957His)
c.-727-7663A>T (n.-727-7663A>T)
c.3015A>T (p.Gln1005His)
c.2991A>T (p.Gln997His)
c.2919A>T (p.Gln973His)
 gnomAD v4
19g.50268329A=CA2340817270MYH14c.2896A= (p.Met966=)
c.2995A= (p.Met999=)
c.2872A= (p.Met958=)
c.-727-7662A= (n.-727-7662A=)
c.3016A= (p.Met1006=)
c.2992A= (p.Met998=)
c.2920A= (p.Met974=)
19g.50268329A>CCA406948943MYH14c.2896A>C (p.Met966Leu)
c.2995A>C (p.Met999Leu)
c.2872A>C (p.Met958Leu)
c.-727-7662A>C (n.-727-7662A>C)
c.3016A>C (p.Met1006Leu)
c.2992A>C (p.Met998Leu)
c.2920A>C (p.Met974Leu)
19g.50268329A>GCA406948942MYH14c.2896A>G (p.Met966Val)
c.2995A>G (p.Met999Val)
c.2872A>G (p.Met958Val)
c.-727-7662A>G (n.-727-7662A>G)
c.3016A>G (p.Met1006Val)
c.2992A>G (p.Met998Val)
c.2920A>G (p.Met974Val)
 dbSNP gnomAD v2 gnomAD v4
19g.50268329A>TCA406948941MYH14c.2896A>T (p.Met966Leu)
c.2995A>T (p.Met999Leu)
c.2872A>T (p.Met958Leu)
c.-727-7662A>T (n.-727-7662A>T)
c.3016A>T (p.Met1006Leu)
c.2992A>T (p.Met998Leu)
c.2920A>T (p.Met974Leu)
 gnomAD v4
19g.50268330T>ACA406948944MYH14c.2897T>A (p.Met966Lys)
c.2996T>A (p.Met999Lys)
c.2873T>A (p.Met958Lys)
c.-727-7661T>A (n.-727-7661T>A)
c.3017T>A (p.Met1006Lys)
c.2993T>A (p.Met998Lys)
c.2921T>A (p.Met974Lys)
 gnomAD v4
19g.50268330T>CCA406948945MYH14c.2897T>C (p.Met966Thr)
c.2996T>C (p.Met999Thr)
c.2873T>C (p.Met958Thr)
c.-727-7661T>C (n.-727-7661T>C)
c.3017T>C (p.Met1006Thr)
c.2993T>C (p.Met998Thr)
c.2921T>C (p.Met974Thr)
 gnomAD v4
19g.50268330T>GCA406948946MYH14c.2897T>G (p.Met966Arg)
c.2996T>G (p.Met999Arg)
c.2873T>G (p.Met958Arg)
c.-727-7661T>G (n.-727-7661T>G)
c.3017T>G (p.Met1006Arg)
c.2993T>G (p.Met998Arg)
c.2921T>G (p.Met974Arg)
19g.50268331G>ACA406948947MYH14c.2898G>A (p.Met966Ile)
c.2997G>A (p.Met999Ile)
c.2874G>A (p.Met958Ile)
c.-727-7660G>A (n.-727-7660G>A)
c.3018G>A (p.Met1006Ile)
c.2994G>A (p.Met998Ile)
c.2922G>A (p.Met974Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.50268331G>CCA406948948MYH14c.2898G>C (p.Met966Ile)
c.2997G>C (p.Met999Ile)
c.2874G>C (p.Met958Ile)
c.-727-7660G>C (n.-727-7660G>C)
c.3018G>C (p.Met1006Ile)
c.2994G>C (p.Met998Ile)
c.2922G>C (p.Met974Ile)
19g.50268331G=CA2340817271MYH14c.2898G= (p.Met966=)
c.2997G= (p.Met999=)
c.2874G= (p.Met958=)
c.-727-7660G= (n.-727-7660G=)
c.3018G= (p.Met1006=)
c.2994G= (p.Met998=)
c.2922G= (p.Met974=)
19g.50268331G>TCA406948949MYH14c.2898G>T (p.Met966Ile)
c.2997G>T (p.Met999Ile)
c.2874G>T (p.Met958Ile)
c.-727-7660G>T (n.-727-7660G>T)
c.3018G>T (p.Met1006Ile)
c.2994G>T (p.Met998Ile)
c.2922G>T (p.Met974Ile)
 gnomAD v4
19g.50268332C>ACA406948950MYH14c.2899C>A (p.Gln967Lys)
c.2998C>A (p.Gln1000Lys)
c.2875C>A (p.Gln959Lys)
c.-727-7659C>A (n.-727-7659C>A)
c.3019C>A (p.Gln1007Lys)
c.2995C>A (p.Gln999Lys)
c.2923C>A (p.Gln975Lys)
 gnomAD v4
19g.50268332C>GCA406948951MYH14c.2899C>G (p.Gln967Glu)
c.2998C>G (p.Gln1000Glu)
c.2875C>G (p.Gln959Glu)
c.-727-7659C>G (n.-727-7659C>G)
c.3019C>G (p.Gln1007Glu)
c.2995C>G (p.Gln999Glu)
c.2923C>G (p.Gln975Glu)
19g.50268332C>TCA406948952MYH14c.2899C>T (p.Gln967Ter)
c.2998C>T (p.Gln1000Ter)
c.2875C>T (p.Gln959Ter)
c.-727-7659C>T (n.-727-7659C>T)
c.3019C>T (p.Gln1007Ter)
c.2995C>T (p.Gln999Ter)
c.2923C>T (p.Gln975Ter)
 gnomAD v4
19g.50268333A>CCA406948953MYH14c.2900A>C (p.Gln967Pro)
c.2999A>C (p.Gln1000Pro)
c.2876A>C (p.Gln959Pro)
c.-727-7658A>C (n.-727-7658A>C)
c.3020A>C (p.Gln1007Pro)
c.2996A>C (p.Gln999Pro)
c.2924A>C (p.Gln975Pro)
19g.50268333A>GCA406948954MYH14c.2900A>G (p.Gln967Arg)
c.2999A>G (p.Gln1000Arg)
c.2876A>G (p.Gln959Arg)
c.-727-7658A>G (n.-727-7658A>G)
c.3020A>G (p.Gln1007Arg)
c.2996A>G (p.Gln999Arg)
c.2924A>G (p.Gln975Arg)
 gnomAD v4
19g.50268333A>TCA406948955MYH14c.2900A>T (p.Gln967Leu)
c.2999A>T (p.Gln1000Leu)
c.2876A>T (p.Gln959Leu)
c.-727-7658A>T (n.-727-7658A>T)
c.3020A>T (p.Gln1007Leu)
c.2996A>T (p.Gln999Leu)
c.2924A>T (p.Gln975Leu)
 gnomAD v4
19g.50268335delCA2586545546MYH14c.2902del (p.Thr968ProfsTer13)
c.3001del (p.Thr1001ProfsTer13)
c.2878del (p.Thr960ProfsTer13)
c.-727-7656del (n.-727-7656del)
c.3022del (p.Thr1008ProfsTer13)
c.2998del (p.Thr1000ProfsTer13)
c.2926del (p.Thr976ProfsTer13)
 gnomAD v4
19g.50268334A>CCA406948956MYH14c.2901A>C (p.Gln967His)
c.3000A>C (p.Gln1000His)
c.2877A>C (p.Gln959His)
c.-727-7657A>C (n.-727-7657A>C)
c.3021A>C (p.Gln1007His)
c.2997A>C (p.Gln999His)
c.2925A>C (p.Gln975His)
19g.50268334A>GCA508176146MYH14c.2901A>G (p.Gln967=)
c.3000A>G (p.Gln1000=)
c.2877A>G (p.Gln959=)
c.-727-7657A>G (n.-727-7657A>G)
c.3021A>G (p.Gln1007=)
c.2997A>G (p.Gln999=)
c.2925A>G (p.Gln975=)
 gnomAD v4
19g.50268334A>TCA406948957MYH14c.2901A>T (p.Gln967His)
c.3000A>T (p.Gln1000His)
c.2877A>T (p.Gln959His)
c.-727-7657A>T (n.-727-7657A>T)
c.3021A>T (p.Gln1007His)
c.2997A>T (p.Gln999His)
c.2925A>T (p.Gln975His)
19g.50268335A>CCA406948958MYH14c.2902A>C (p.Thr968Pro)
c.3001A>C (p.Thr1001Pro)
c.2878A>C (p.Thr960Pro)
c.-727-7656A>C (n.-727-7656A>C)
c.3022A>C (p.Thr1008Pro)
c.2998A>C (p.Thr1000Pro)
c.2926A>C (p.Thr976Pro)
 gnomAD v4
19g.50268335A>GCA406948959MYH14c.2902A>G (p.Thr968Ala)
c.3001A>G (p.Thr1001Ala)
c.2878A>G (p.Thr960Ala)
c.-727-7656A>G (n.-727-7656A>G)
c.3022A>G (p.Thr1008Ala)
c.2998A>G (p.Thr1000Ala)
c.2926A>G (p.Thr976Ala)
19g.50268335A>TCA406948960MYH14c.2902A>T (p.Thr968Ser)
c.3001A>T (p.Thr1001Ser)
c.2878A>T (p.Thr960Ser)
c.-727-7656A>T (n.-727-7656A>T)
c.3022A>T (p.Thr1008Ser)
c.2998A>T (p.Thr1000Ser)
c.2926A>T (p.Thr976Ser)
19g.50268336C>ACA406948961MYH14c.2903C>A (p.Thr968Asn)
c.3002C>A (p.Thr1001Asn)
c.2879C>A (p.Thr960Asn)
c.-727-7655C>A (n.-727-7655C>A)
c.3023C>A (p.Thr1008Asn)
c.2999C>A (p.Thr1000Asn)
c.2927C>A (p.Thr976Asn)
 gnomAD v4
19g.50268336C>GCA406948962MYH14c.2903C>G (p.Thr968Ser)
c.3002C>G (p.Thr1001Ser)
c.2879C>G (p.Thr960Ser)
c.-727-7655C>G (n.-727-7655C>G)
c.3023C>G (p.Thr1008Ser)
c.2999C>G (p.Thr1000Ser)
c.2927C>G (p.Thr976Ser)
19g.50268336C>TCA406948963MYH14c.2903C>T (p.Thr968Ile)
c.3002C>T (p.Thr1001Ile)
c.2879C>T (p.Thr960Ile)
c.-727-7655C>T (n.-727-7655C>T)
c.3023C>T (p.Thr1008Ile)
c.2999C>T (p.Thr1000Ile)
c.2927C>T (p.Thr976Ile)
 gnomAD v4
19g.50268337C>ACA309561881MYH14c.2904C>A (p.Thr968=)
c.3003C>A (p.Thr1001=)
c.2880C>A (p.Thr960=)
c.-727-7654C>A (n.-727-7654C>A)
c.3024C>A (p.Thr1008=)
c.3000C>A (p.Thr1000=)
c.2928C>A (p.Thr976=)
 dbSNP gnomAD v4
19g.50268337C=CA2340817272MYH14c.2904C= (p.Thr968=)
c.3003C= (p.Thr1001=)
c.2880C= (p.Thr960=)
c.-727-7654C= (n.-727-7654C=)
c.3024C= (p.Thr1008=)
c.3000C= (p.Thr1000=)
c.2928C= (p.Thr976=)
19g.50268337C>GCA508176147MYH14c.2904C>G (p.Thr968=)
c.3003C>G (p.Thr1001=)
c.2880C>G (p.Thr960=)
c.-727-7654C>G (n.-727-7654C>G)
c.3024C>G (p.Thr1008=)
c.3000C>G (p.Thr1000=)
c.2928C>G (p.Thr976=)
19g.50268337C>TCA508176148MYH14c.2904C>T (p.Thr968=)
c.3003C>T (p.Thr1001=)
c.2880C>T (p.Thr960=)
c.-727-7654C>T (n.-727-7654C>T)
c.3024C>T (p.Thr1008=)
c.3000C>T (p.Thr1000=)
c.2928C>T (p.Thr976=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50268338G>ACA406948966MYH14c.2905G>A (p.Glu969Lys)
c.3004G>A (p.Glu1002Lys)
c.2881G>A (p.Glu961Lys)
c.-727-7653G>A (n.-727-7653G>A)
c.3025G>A (p.Glu1009Lys)
c.3001G>A (p.Glu1001Lys)
c.2929G>A (p.Glu977Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.50268338G>CCA406948964MYH14c.2905G>C (p.Glu969Gln)
c.3004G>C (p.Glu1002Gln)
c.2881G>C (p.Glu961Gln)
c.-727-7653G>C (n.-727-7653G>C)
c.3025G>C (p.Glu1009Gln)
c.3001G>C (p.Glu1001Gln)
c.2929G>C (p.Glu977Gln)
19g.50268338G=CA2340817273MYH14c.2905G= (p.Glu969=)
c.3004G= (p.Glu1002=)
c.2881G= (p.Glu961=)
c.-727-7653G= (n.-727-7653G=)
c.3025G= (p.Glu1009=)
c.3001G= (p.Glu1001=)
c.2929G= (p.Glu977=)
19g.50268338G>TCA406948965MYH14c.2905G>T (p.Glu969Ter)
c.3004G>T (p.Glu1002Ter)
c.2881G>T (p.Glu961Ter)
c.-727-7653G>T (n.-727-7653G>T)
c.3025G>T (p.Glu1009Ter)
c.3001G>T (p.Glu1001Ter)
c.2929G>T (p.Glu977Ter)
 gnomAD v4
19g.50268339A>CCA406948967MYH14c.2906A>C (p.Glu969Ala)
c.3005A>C (p.Glu1002Ala)
c.2882A>C (p.Glu961Ala)
c.-727-7652A>C (n.-727-7652A>C)
c.3026A>C (p.Glu1009Ala)
c.3002A>C (p.Glu1001Ala)
c.2930A>C (p.Glu977Ala)
19g.50268339A>GCA406948968MYH14c.2906A>G (p.Glu969Gly)
c.3005A>G (p.Glu1002Gly)
c.2882A>G (p.Glu961Gly)
c.-727-7652A>G (n.-727-7652A>G)
c.3026A>G (p.Glu1009Gly)
c.3002A>G (p.Glu1001Gly)
c.2930A>G (p.Glu977Gly)
 gnomAD v4
19g.50268339A>TCA406948969MYH14c.2906A>T (p.Glu969Val)
c.3005A>T (p.Glu1002Val)
c.2882A>T (p.Glu961Val)
c.-727-7652A>T (n.-727-7652A>T)
c.3026A>T (p.Glu1009Val)
c.3002A>T (p.Glu1001Val)
c.2930A>T (p.Glu977Val)
 gnomAD v4
19g.50268345_50268347delCA2586545547MYH14c.2912_2914del (p.Lys971del)
c.3011_3013del (p.Lys1004del)
c.2888_2890del (p.Lys963del)
c.-727-7646_-727-7644del (n.-727-7646_-727-7644del)
c.3032_3034del (p.Lys1011del)
c.3008_3010del (p.Lys1003del)
c.2936_2938del (p.Lys979del)
 gnomAD v4
19g.50268340G>ACA508176149MYH14c.2907G>A (p.Glu969=)
c.3006G>A (p.Glu1002=)
c.2883G>A (p.Glu961=)
c.-727-7651G>A (n.-727-7651G>A)
c.3027G>A (p.Glu1009=)
c.3003G>A (p.Glu1001=)
c.2931G>A (p.Glu977=)
 gnomAD v4
19g.50268340G>CCA406948970MYH14c.2907G>C (p.Glu969Asp)
c.3006G>C (p.Glu1002Asp)
c.2883G>C (p.Glu961Asp)
c.-727-7651G>C (n.-727-7651G>C)
c.3027G>C (p.Glu1009Asp)
c.3003G>C (p.Glu1001Asp)
c.2931G>C (p.Glu977Asp)
19g.50268340G>TCA406948971MYH14c.2907G>T (p.Glu969Asp)
c.3006G>T (p.Glu1002Asp)
c.2883G>T (p.Glu961Asp)
c.-727-7651G>T (n.-727-7651G>T)
c.3027G>T (p.Glu1009Asp)
c.3003G>T (p.Glu1001Asp)
c.2931G>T (p.Glu977Asp)
 gnomAD v4
19g.50268341A>CCA406948972MYH14c.2908A>C (p.Lys970Gln)
c.3007A>C (p.Lys1003Gln)
c.2884A>C (p.Lys962Gln)
c.-727-7650A>C (n.-727-7650A>C)
c.3028A>C (p.Lys1010Gln)
c.3004A>C (p.Lys1002Gln)
c.2932A>C (p.Lys978Gln)
19g.50268341A>GCA406948974MYH14c.2908A>G (p.Lys970Glu)
c.3007A>G (p.Lys1003Glu)
c.2884A>G (p.Lys962Glu)
c.-727-7650A>G (n.-727-7650A>G)
c.3028A>G (p.Lys1010Glu)
c.3004A>G (p.Lys1002Glu)
c.2932A>G (p.Lys978Glu)
19g.50268341A>TCA406948973MYH14c.2908A>T (p.Lys970Ter)
c.3007A>T (p.Lys1003Ter)
c.2884A>T (p.Lys962Ter)
c.-727-7650A>T (n.-727-7650A>T)
c.3028A>T (p.Lys1010Ter)
c.3004A>T (p.Lys1002Ter)
c.2932A>T (p.Lys978Ter)
19g.50268342delCA2586545548MYH14c.2909del (p.Lys970ArgfsTer11)
c.3008del (p.Lys1003ArgfsTer11)
c.2885del (p.Lys962ArgfsTer11)
c.-727-7649del (n.-727-7649del)
c.3029del (p.Lys1010ArgfsTer11)
c.3005del (p.Lys1002ArgfsTer11)
c.2933del (p.Lys978ArgfsTer11)
 gnomAD v4
19g.50268342A>CCA406948975MYH14c.2909A>C (p.Lys970Thr)
c.3008A>C (p.Lys1003Thr)
c.2885A>C (p.Lys962Thr)
c.-727-7649A>C (n.-727-7649A>C)
c.3029A>C (p.Lys1010Thr)
c.3005A>C (p.Lys1002Thr)
c.2933A>C (p.Lys978Thr)
 gnomAD v4
19g.50268342A>GCA406948976MYH14c.2909A>G (p.Lys970Arg)
c.3008A>G (p.Lys1003Arg)
c.2885A>G (p.Lys962Arg)
c.-727-7649A>G (n.-727-7649A>G)
c.3029A>G (p.Lys1010Arg)
c.3005A>G (p.Lys1002Arg)
c.2933A>G (p.Lys978Arg)
 gnomAD v4
19g.50268342A>TCA406948977MYH14c.2909A>T (p.Lys970Met)
c.3008A>T (p.Lys1003Met)
c.2885A>T (p.Lys962Met)
c.-727-7649A>T (n.-727-7649A>T)
c.3029A>T (p.Lys1010Met)
c.3005A>T (p.Lys1002Met)
c.2933A>T (p.Lys978Met)
19g.50268343G>ACA508176150MYH14c.2910G>A (p.Lys970=)
c.3009G>A (p.Lys1003=)
c.2886G>A (p.Lys962=)
c.-727-7648G>A (n.-727-7648G>A)
c.3030G>A (p.Lys1010=)
c.3006G>A (p.Lys1002=)
c.2934G>A (p.Lys978=)
 gnomAD v4
19g.50268343G>CCA406948978MYH14c.2910G>C (p.Lys970Asn)
c.3009G>C (p.Lys1003Asn)
c.2886G>C (p.Lys962Asn)
c.-727-7648G>C (n.-727-7648G>C)
c.3030G>C (p.Lys1010Asn)
c.3006G>C (p.Lys1002Asn)
c.2934G>C (p.Lys978Asn)
 gnomAD v4
19g.50268343G=CA2340817274MYH14c.2910G= (p.Lys970=)
c.3009G= (p.Lys1003=)
c.2886G= (p.Lys962=)
c.-727-7648G= (n.-727-7648G=)
c.3030G= (p.Lys1010=)
c.3006G= (p.Lys1002=)
c.2934G= (p.Lys978=)
19g.50268343G>TCA9593083MYH14c.2910G>T (p.Lys970Asn)
c.3009G>T (p.Lys1003Asn)
c.2886G>T (p.Lys962Asn)
c.-727-7648G>T (n.-727-7648G>T)
c.3030G>T (p.Lys1010Asn)
c.3006G>T (p.Lys1002Asn)
c.2934G>T (p.Lys978Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50268344A>CCA406948980MYH14c.2911A>C (p.Lys971Gln)
c.3010A>C (p.Lys1004Gln)
c.2887A>C (p.Lys963Gln)
c.-727-7647A>C (n.-727-7647A>C)
c.3031A>C (p.Lys1011Gln)
c.3007A>C (p.Lys1003Gln)
c.2935A>C (p.Lys979Gln)
19g.50268344A>GCA406948981MYH14c.2911A>G (p.Lys971Glu)
c.3010A>G (p.Lys1004Glu)
c.2887A>G (p.Lys963Glu)
c.-727-7647A>G (n.-727-7647A>G)
c.3031A>G (p.Lys1011Glu)
c.3007A>G (p.Lys1003Glu)
c.2935A>G (p.Lys979Glu)
 gnomAD v4
19g.50268344A>TCA406948983MYH14c.2911A>T (p.Lys971Ter)
c.3010A>T (p.Lys1004Ter)
c.2887A>T (p.Lys963Ter)
c.-727-7647A>T (n.-727-7647A>T)
c.3031A>T (p.Lys1011Ter)
c.3007A>T (p.Lys1003Ter)
c.2935A>T (p.Lys979Ter)
19g.50268345A=CA2340817275MYH14c.2912A= (p.Lys971=)
c.3011A= (p.Lys1004=)
c.2888A= (p.Lys963=)
c.-727-7646A= (n.-727-7646A=)
c.3032A= (p.Lys1011=)
c.3008A= (p.Lys1003=)
c.2936A= (p.Lys979=)
19g.50268345A>CCA406948985MYH14c.2912A>C (p.Lys971Thr)
c.3011A>C (p.Lys1004Thr)
c.2888A>C (p.Lys963Thr)
c.-727-7646A>C (n.-727-7646A>C)
c.3032A>C (p.Lys1011Thr)
c.3008A>C (p.Lys1003Thr)
c.2936A>C (p.Lys979Thr)
19g.50268345A>GCA9593084MYH14c.2912A>G (p.Lys971Arg)
c.3011A>G (p.Lys1004Arg)
c.2888A>G (p.Lys963Arg)
c.-727-7646A>G (n.-727-7646A>G)
c.3032A>G (p.Lys1011Arg)
c.3008A>G (p.Lys1003Arg)
c.2936A>G (p.Lys979Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.50268345A>TCA406948988MYH14c.2912A>T (p.Lys971Met)
c.3011A>T (p.Lys1004Met)
c.2888A>T (p.Lys963Met)
c.-727-7646A>T (n.-727-7646A>T)
c.3032A>T (p.Lys1011Met)
c.3008A>T (p.Lys1003Met)
c.2936A>T (p.Lys979Met)
19g.50268346G>ACA508176151MYH14c.2913G>A (p.Lys971=)
c.3012G>A (p.Lys1004=)
c.-100G>A (n.-100G>A)
c.2889G>A (p.Lys963=)
c.-727-7645G>A (n.-727-7645G>A)
c.3033G>A (p.Lys1011=)
c.3009G>A (p.Lys1003=)
c.2937G>A (p.Lys979=)
19g.50268346G>CCA406948991MYH14c.2913G>C (p.Lys971Asn)
c.3012G>C (p.Lys1004Asn)
c.-100G>C (n.-100G>C)
c.2889G>C (p.Lys963Asn)
c.-727-7645G>C (n.-727-7645G>C)
c.3033G>C (p.Lys1011Asn)
c.3009G>C (p.Lys1003Asn)
c.2937G>C (p.Lys979Asn)
19g.50268346G>TCA406948993MYH14c.2913G>T (p.Lys971Asn)
c.3012G>T (p.Lys1004Asn)
c.-100G>T (n.-100G>T)
c.2889G>T (p.Lys963Asn)
c.-727-7645G>T (n.-727-7645G>T)
c.3033G>T (p.Lys1011Asn)
c.3009G>T (p.Lys1003Asn)
c.2937G>T (p.Lys979Asn)
 gnomAD v4
19g.50268347A>CCA508176152MYH14c.2914A>C (p.Arg972=)
c.3013A>C (p.Arg1005=)
c.-99A>C (n.-99A>C)
c.2890A>C (p.Arg964=)
c.-727-7644A>C (n.-727-7644A>C)
c.3034A>C (p.Arg1012=)
c.3010A>C (p.Arg1004=)
c.2938A>C (p.Arg980=)
19g.50268347A>GCA406948995MYH14c.2914A>G (p.Arg972Gly)
c.3013A>G (p.Arg1005Gly)
c.-99A>G (n.-99A>G)
c.2890A>G (p.Arg964Gly)
c.-727-7644A>G (n.-727-7644A>G)
c.3034A>G (p.Arg1012Gly)
c.3010A>G (p.Arg1004Gly)
c.2938A>G (p.Arg980Gly)
 gnomAD v4
19g.50268347A>TCA406948997MYH14c.2914A>T (p.Arg972Trp)
c.3013A>T (p.Arg1005Trp)
c.-99A>T (n.-99A>T)
c.2890A>T (p.Arg964Trp)
c.-727-7644A>T (n.-727-7644A>T)
c.3034A>T (p.Arg1012Trp)
c.3010A>T (p.Arg1004Trp)
c.2938A>T (p.Arg980Trp)
19g.50268348G>ACA406948999MYH14c.2915G>A (p.Arg972Lys)
c.3014G>A (p.Arg1005Lys)
c.-98G>A (n.-98G>A)
c.2891G>A (p.Arg964Lys)
c.-727-7643G>A (n.-727-7643G>A)
c.3035G>A (p.Arg1012Lys)
c.3011G>A (p.Arg1004Lys)
c.2939G>A (p.Arg980Lys)
19g.50268348G>CCA406949002MYH14c.2915G>C (p.Arg972Thr)
c.3014G>C (p.Arg1005Thr)
c.-98G>C (n.-98G>C)
c.2891G>C (p.Arg964Thr)
c.-727-7643G>C (n.-727-7643G>C)
c.3035G>C (p.Arg1012Thr)
c.3011G>C (p.Arg1004Thr)
c.2939G>C (p.Arg980Thr)
19g.50268348G>TCA406949000MYH14c.2915G>T (p.Arg972Met)
c.3014G>T (p.Arg1005Met)
c.-98G>T (n.-98G>T)
c.2891G>T (p.Arg964Met)
c.-727-7643G>T (n.-727-7643G>T)
c.3035G>T (p.Arg1012Met)
c.3011G>T (p.Arg1004Met)
c.2939G>T (p.Arg980Met)
 gnomAD v4
19g.50268349delCA2838206026MYH14c.2916del (p.Arg972SerfsTer9)
c.3015del (p.Arg1005SerfsTer9)
c.-97del (n.-97del)
c.2892del (p.Arg964SerfsTer9)
c.-727-7642del (n.-727-7642del)
c.3036del (p.Arg1012SerfsTer9)
c.3012del (p.Arg1004SerfsTer9)
c.2940del (p.Arg980SerfsTer9)
19g.50268349G>ACA508176153MYH14c.2916G>A (p.Arg972=)
c.3015G>A (p.Arg1005=)
c.-97G>A (n.-97G>A)
c.2892G>A (p.Arg964=)
c.-727-7642G>A (n.-727-7642G>A)
c.3036G>A (p.Arg1012=)
c.3012G>A (p.Arg1004=)
c.2940G>A (p.Arg980=)
 gnomAD v4
19g.50268349G>CCA406949006MYH14c.2916G>C (p.Arg972Ser)
c.3015G>C (p.Arg1005Ser)
c.-97G>C (n.-97G>C)
c.2892G>C (p.Arg964Ser)
c.-727-7642G>C (n.-727-7642G>C)
c.3036G>C (p.Arg1012Ser)
c.3012G>C (p.Arg1004Ser)
c.2940G>C (p.Arg980Ser)
19g.50268349G>TCA406949008MYH14c.2916G>T (p.Arg972Ser)
c.3015G>T (p.Arg1005Ser)
c.-97G>T (n.-97G>T)
c.2892G>T (p.Arg964Ser)
c.-727-7642G>T (n.-727-7642G>T)
c.3036G>T (p.Arg1012Ser)
c.3012G>T (p.Arg1004Ser)
c.2940G>T (p.Arg980Ser)
 gnomAD v4
19g.50268350C>ACA406949011MYH14c.2917C>A (p.Leu973Met)
c.3016C>A (p.Leu1006Met)
c.-96C>A (n.-96C>A)
c.2893C>A (p.Leu965Met)
c.-727-7641C>A (n.-727-7641C>A)
c.3037C>A (p.Leu1013Met)
c.3013C>A (p.Leu1005Met)
c.2941C>A (p.Leu981Met)
 gnomAD v4
19g.50268350C=CA2340817276MYH14c.2917C= (p.Leu973=)
c.3016C= (p.Leu1006=)
c.-96C= (n.-96C=)
c.2893C= (p.Leu965=)
c.-727-7641C= (n.-727-7641C=)
c.3037C= (p.Leu1013=)
c.3013C= (p.Leu1005=)
c.2941C= (p.Leu981=)
19g.50268350C>GCA406949012MYH14c.2917C>G (p.Leu973Val)
c.3016C>G (p.Leu1006Val)
c.-96C>G (n.-96C>G)
c.2893C>G (p.Leu965Val)
c.-727-7641C>G (n.-727-7641C>G)
c.3037C>G (p.Leu1013Val)
c.3013C>G (p.Leu1005Val)
c.2941C>G (p.Leu981Val)
19g.50268350C>TCA508176154MYH14c.2917C>T (p.Leu973=)
c.3016C>T (p.Leu1006=)
c.-96C>T (n.-96C>T)
c.2893C>T (p.Leu965=)
c.-727-7641C>T (n.-727-7641C>T)
c.3037C>T (p.Leu1013=)
c.3013C>T (p.Leu1005=)
c.2941C>T (p.Leu981=)
 dbSNP gnomAD v2 gnomAD v4
19g.50268351T>ACA406949016MYH14c.2918T>A (p.Leu973Gln)
c.3017T>A (p.Leu1006Gln)
c.-95T>A (n.-95T>A)
c.2894T>A (p.Leu965Gln)
c.-727-7640T>A (n.-727-7640T>A)
c.3038T>A (p.Leu1013Gln)
c.3014T>A (p.Leu1005Gln)
c.2942T>A (p.Leu981Gln)
19g.50268351T>CCA406949017MYH14c.2918T>C (p.Leu973Pro)
c.3017T>C (p.Leu1006Pro)
c.-95T>C (n.-95T>C)
c.2894T>C (p.Leu965Pro)
c.-727-7640T>C (n.-727-7640T>C)
c.3038T>C (p.Leu1013Pro)
c.3014T>C (p.Leu1005Pro)
c.2942T>C (p.Leu981Pro)
 gnomAD v4
19g.50268351T>GCA406949020MYH14c.2918T>G (p.Leu973Arg)
c.3017T>G (p.Leu1006Arg)
c.-95T>G (n.-95T>G)
c.2894T>G (p.Leu965Arg)
c.-727-7640T>G (n.-727-7640T>G)
c.3038T>G (p.Leu1013Arg)
c.3014T>G (p.Leu1005Arg)
c.2942T>G (p.Leu981Arg)
19g.50268352delCA2586545549MYH14c.2919del (p.Gln974SerfsTer7)
c.3018del (p.Gln1007SerfsTer7)
c.-94del (n.-94del)
c.2895del (p.Gln966SerfsTer7)
c.-727-7639del (n.-727-7639del)
c.3039del (p.Gln1014SerfsTer7)
c.3015del (p.Gln1006SerfsTer7)
c.2943del (p.Gln982SerfsTer7)
 gnomAD v4
19g.50268352G>ACA133486MYH14c.2919G>A (p.Leu973=)
c.3018G>A (p.Leu1006=)
c.-94G>A (n.-94G>A)
c.2895G>A (p.Leu965=)
c.-727-7639G>A (n.-727-7639G>A)
c.3039G>A (p.Leu1013=)
c.3015G>A (p.Leu1005=)
c.2943G>A (p.Leu981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50268352G>CCA508176156MYH14c.2919G>C (p.Leu973=)
c.3018G>C (p.Leu1006=)
c.-94G>C (n.-94G>C)
c.2895G>C (p.Leu965=)
c.-727-7639G>C (n.-727-7639G>C)
c.3039G>C (p.Leu1013=)
c.3015G>C (p.Leu1005=)
c.2943G>C (p.Leu981=)
19g.50268352G=CA2340817277MYH14c.2919G= (p.Leu973=)
c.3018G= (p.Leu1006=)
c.-94G= (n.-94G=)
c.2895G= (p.Leu965=)
c.-727-7639G= (n.-727-7639G=)
c.3039G= (p.Leu1013=)
c.3015G= (p.Leu1005=)
c.2943G= (p.Leu981=)
19g.50268352G>TCA508176155MYH14c.2919G>T (p.Leu973=)
c.3018G>T (p.Leu1006=)
c.-94G>T (n.-94G>T)
c.2895G>T (p.Leu965=)
c.-727-7639G>T (n.-727-7639G>T)
c.3039G>T (p.Leu1013=)
c.3015G>T (p.Leu1005=)
c.2943G>T (p.Leu981=)
19g.50268353C>ACA406949025MYH14c.2920C>A (p.Gln974Lys)
c.3019C>A (p.Gln1007Lys)
c.-93C>A (n.-93C>A)
c.2896C>A (p.Gln966Lys)
c.-727-7638C>A (n.-727-7638C>A)
c.3040C>A (p.Gln1014Lys)
c.3016C>A (p.Gln1006Lys)
c.2944C>A (p.Gln982Lys)
 dbSNP gnomAD v4
19g.50268353C=CA2340817278MYH14c.2920C= (p.Gln974=)
c.3019C= (p.Gln1007=)
c.-93C= (n.-93C=)
c.2896C= (p.Gln966=)
c.-727-7638C= (n.-727-7638C=)
c.3040C= (p.Gln1014=)
c.3016C= (p.Gln1006=)
c.2944C= (p.Gln982=)
19g.50268353C>GCA406949027MYH14c.2920C>G (p.Gln974Glu)
c.3019C>G (p.Gln1007Glu)
c.-93C>G (n.-93C>G)
c.2896C>G (p.Gln966Glu)
c.-727-7638C>G (n.-727-7638C>G)
c.3040C>G (p.Gln1014Glu)
c.3016C>G (p.Gln1006Glu)
c.2944C>G (p.Gln982Glu)
19g.50268353C>TCA406949029MYH14c.2920C>T (p.Gln974Ter)
c.3019C>T (p.Gln1007Ter)
c.-93C>T (n.-93C>T)
c.2896C>T (p.Gln966Ter)
c.-727-7638C>T (n.-727-7638C>T)
c.3040C>T (p.Gln1014Ter)
c.3016C>T (p.Gln1006Ter)
c.2944C>T (p.Gln982Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.50268354A>CCA406949032MYH14c.2921A>C (p.Gln974Pro)
c.3020A>C (p.Gln1007Pro)
c.-92A>C (n.-92A>C)
c.2897A>C (p.Gln966Pro)
c.-727-7637A>C (n.-727-7637A>C)
c.3041A>C (p.Gln1014Pro)
c.3017A>C (p.Gln1006Pro)
c.2945A>C (p.Gln982Pro)
19g.50268354A>GCA406949034MYH14c.2921A>G (p.Gln974Arg)
c.3020A>G (p.Gln1007Arg)
c.-92A>G (n.-92A>G)
c.2897A>G (p.Gln966Arg)
c.-727-7637A>G (n.-727-7637A>G)
c.3041A>G (p.Gln1014Arg)
c.3017A>G (p.Gln1006Arg)
c.2945A>G (p.Gln982Arg)
 gnomAD v4
19g.50268354A>TCA406949035MYH14c.2921A>T (p.Gln974Leu)
c.3020A>T (p.Gln1007Leu)
c.-92A>T (n.-92A>T)
c.2897A>T (p.Gln966Leu)
c.-727-7637A>T (n.-727-7637A>T)
c.3041A>T (p.Gln1014Leu)
c.3017A>T (p.Gln1006Leu)
c.2945A>T (p.Gln982Leu)
 gnomAD v4
19g.50268355G>ACA9593085MYH14c.2922G>A (p.Gln974=)
c.3021G>A (p.Gln1007=)
c.-91G>A (n.-91G>A)
c.2898G>A (p.Gln966=)
c.-727-7636G>A (n.-727-7636G>A)
c.3042G>A (p.Gln1014=)
c.3018G>A (p.Gln1006=)
c.2946G>A (p.Gln982=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.50268355G>CCA406949039MYH14c.2922G>C (p.Gln974His)
c.3021G>C (p.Gln1007His)
c.-91G>C (n.-91G>C)
c.2898G>C (p.Gln966His)
c.-727-7636G>C (n.-727-7636G>C)
c.3042G>C (p.Gln1014His)
c.3018G>C (p.Gln1006His)
c.2946G>C (p.Gln982His)
 gnomAD v4
19g.50268355G=CA2340817279MYH14c.2922G= (p.Gln974=)
c.3021G= (p.Gln1007=)
c.-91G= (n.-91G=)
c.2898G= (p.Gln966=)
c.-727-7636G= (n.-727-7636G=)
c.3042G= (p.Gln1014=)
c.3018G= (p.Gln1006=)
c.2946G= (p.Gln982=)
19g.50268355G>TCA406949041MYH14c.2922G>T (p.Gln974His)
c.3021G>T (p.Gln1007His)
c.-91G>T (n.-91G>T)
c.2898G>T (p.Gln966His)
c.-727-7636G>T (n.-727-7636G>T)
c.3042G>T (p.Gln1014His)
c.3018G>T (p.Gln1006His)
c.2946G>T (p.Gln982His)
 gnomAD v4

Number of alleles fetched