UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23423950G>A | CA389046722 | MYH7 | c.2879C>T (p.Thr960Ile) n.2985C>T | |
| 14 | g.23423950G>C | CA389046724 | MYH7 | c.2879C>G (p.Thr960Arg) n.2985C>G | |
| 14 | g.23423950G>T | CA389046725 | MYH7 | c.2879C>A (p.Thr960Lys) n.2985C>A | |
| 14 | g.23423951T>A | CA389046726 | MYH7 | c.2878A>T (p.Thr960Ser) n.2984A>T | |
| 14 | g.23423951T>C | CA389046728 | MYH7 | c.2878A>G (p.Thr960Ala) n.2984A>G | |
| 14 | g.23423951T>G | CA389046730 | MYH7 | c.2878A>C (p.Thr960Pro) n.2984A>C | |
| 14 | g.23423952C>A | CA485766821 | MYH7 | c.2877G>T (p.Leu959=) n.2983G>T | |
| 14 | g.23423952C= | CA2123454001 | MYH7 | c.2877G= (p.Leu959=) n.2983G= | |
| 14 | g.23423952C>G | CA485766822 | MYH7 | c.2877G>C (p.Leu959=) n.2983G>C | COSMIC |
| 14 | g.23423952C>T | CA10587772 | MYH7 | c.2877G>A (p.Leu959=) n.2983G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423953A>C | CA389046732 | MYH7 | c.2876T>G (p.Leu959Arg) n.2982T>G | |
| 14 | g.23423953A>G | CA389046735 | MYH7 | c.2876T>C (p.Leu959Pro) n.2982T>C | |
| 14 | g.23423953A>T | CA389046734 | MYH7 | c.2876T>A (p.Leu959Gln) n.2982T>A | |
| 14 | g.23423954G>A | CA485766825 | MYH7 | c.2875C>T (p.Leu959=) n.2981C>T | |
| 14 | g.23423954G>C | CA389046737 | MYH7 | c.2875C>G (p.Leu959Val) n.2981C>G | |
| 14 | g.23423954G>T | CA389046738 | MYH7 | c.2875C>A (p.Leu959Met) n.2981C>A | |
| 14 | g.23423955C>A | CA389046739 | MYH7 | c.2874G>T (p.Glu958Asp) n.2980G>T | |
| 14 | g.23423955C= | CA2123454004 | MYH7 | c.2874G= (p.Glu958=) n.2980G= | |
| 14 | g.23423955C>G | CA389046740 | MYH7 | c.2874G>C (p.Glu958Asp) n.2980G>C | |
| 14 | g.23423955C>T | CA257818889 | MYH7 | c.2874G>A (p.Glu958=) n.2980G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423956T>A | CA389046742 | MYH7 | c.2873A>T (p.Glu958Val) n.2979A>T | |
| 14 | g.23423956T>C | CA389046745 | MYH7 | c.2873A>G (p.Glu958Gly) n.2979A>G | |
| 14 | g.23423956T>G | CA389046744 | MYH7 | c.2873A>C (p.Glu958Ala) n.2979A>C | |
| 14 | g.23423957C>A | CA389046747 | MYH7 | c.2872G>T (p.Glu958Ter) n.2978G>T | |
| 14 | g.23423957C>G | CA389046748 | MYH7 | c.2872G>C (p.Glu958Gln) n.2978G>C | gnomAD v4 |
| 14 | g.23423957C>T | CA389046750 | MYH7 | c.2872G>A (p.Glu958Lys) n.2978G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423958C>A | CA485766828 | MYH7 | c.2871G>T (p.Leu957=) n.2977G>T | |
| 14 | g.23423958C>G | CA485766830 | MYH7 | c.2871G>C (p.Leu957=) n.2977G>C | |
| 14 | g.23423958C>T | CA485766831 | MYH7 | c.2871G>A (p.Leu957=) n.2977G>A | |
| 14 | g.23423958_23423959delinsCA | CA2123454010 | MYH7 | c.2870_2871delinsTG (p.Leu957=) n.2976_2977delinsTG | |
| 14 | g.23423959del | CA2123454013 | MYH7 | c.2870del (p.Leu957ArgfsTer3) n.2976del | dbSNP |
| 14 | g.23423959A>C | CA389046752 | MYH7 | c.2870T>G (p.Leu957Arg) n.2976T>G | |
| 14 | g.23423959A>G | CA389046753 | MYH7 | c.2870T>C (p.Leu957Pro) n.2976T>C | |
| 14 | g.23423959A>T | CA389046754 | MYH7 | c.2870T>A (p.Leu957Gln) n.2976T>A | |
| 14 | g.23423960G>A | CA485766832 | MYH7 | c.2869C>T (p.Leu957=) n.2975C>T | gnomAD v4 |
| 14 | g.23423960G>C | CA389046755 | MYH7 | c.2869C>G (p.Leu957Val) n.2975C>G | |
| 14 | g.23423960G>T | CA389046757 | MYH7 | c.2869C>A (p.Leu957Met) n.2975C>A | |
| 14 | g.23423961A= | CA2123454017 | MYH7 | c.2868T= (p.Asp956=) n.2974T= | |
| 14 | g.23423961A>C | CA389046759 | MYH7 | c.2868T>G (p.Asp956Glu) n.2974T>G | |
| 14 | g.23423961A>G | CA034495 | MYH7 | c.2868T>C (p.Asp956=) n.2974T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423961A>T | CA389046760 | MYH7 | c.2868T>A (p.Asp956Glu) n.2974T>A | ClinVar dbSNP |
| 14 | g.23423962T>A | CA389046764 | MYH7 | c.2867A>T (p.Asp956Val) n.2973A>T | |
| 14 | g.23423962T>C | CA389046765 | MYH7 | c.2867A>G (p.Asp956Gly) n.2973A>G | |
| 14 | g.23423962T>G | CA389046762 | MYH7 | c.2867A>C (p.Asp956Ala) n.2973A>C | |
| 14 | g.23423963C>A | CA389046767 | MYH7 | c.2866G>T (p.Asp956Tyr) n.2972G>T | |
| 14 | g.23423963C>G | CA389046768 | MYH7 | c.2866G>C (p.Asp956His) n.2972G>C | |
| 14 | g.23423963C>T | CA389046769 | MYH7 | c.2866G>A (p.Asp956Asn) n.2972G>A | COSMIC |
| 14 | g.23423964A= | CA2123454022 | MYH7 | c.2865T= (p.Asp955=) n.2971T= | |
| 14 | g.23423964A>C | CA389046771 | MYH7 | c.2865T>G (p.Asp955Glu) n.2971T>G | |
| 14 | g.23423964A>G | CA034483 | MYH7 | c.2865T>C (p.Asp955=) n.2971T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423964A>T | CA389046773 | MYH7 | c.2865T>A (p.Asp955Glu) n.2971T>A | |
| 14 | g.23423965T>A | CA389046775 | MYH7 | c.2864A>T (p.Asp955Val) n.2970A>T | |
| 14 | g.23423965T>C | CA389046777 | MYH7 | c.2864A>G (p.Asp955Gly) n.2970A>G | |
| 14 | g.23423965T>G | CA389046778 | MYH7 | c.2864A>C (p.Asp955Ala) n.2970A>C | |
| 14 | g.23423966C>A | CA389046780 | MYH7 | c.2863G>T (p.Asp955Tyr) n.2969G>T | |
| 14 | g.23423966C= | CA2123454026 | MYH7 | c.2863G= (p.Asp955=) n.2969G= | |
| 14 | g.23423966C>G | CA389046781 | MYH7 | c.2863G>C (p.Asp955His) n.2969G>C | |
| 14 | g.23423966C>T | CA10587773 | MYH7 | c.2863G>A (p.Asp955Asn) n.2969G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23423967G>A | CA257818896 | MYH7 | c.2862C>T (p.Ile954=) n.2968C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423967G>C | CA389046783 | MYH7 | c.2862C>G (p.Ile954Met) n.2968C>G | ClinVar |
| 14 | g.23423967G= | CA2123454030 | MYH7 | c.2862C= (p.Ile954=) n.2968C= | |
| 14 | g.23423967G>T | CA485766848 | MYH7 | c.2862C>A (p.Ile954=) n.2968C>A | |
| 14 | g.23423968A>C | CA389046788 | MYH7 | c.2861T>G (p.Ile954Ser) n.2967T>G | |
| 14 | g.23423968A>G | CA389046787 | MYH7 | c.2861T>C (p.Ile954Thr) n.2967T>C | |
| 14 | g.23423968A>T | CA389046785 | MYH7 | c.2861T>A (p.Ile954Asn) n.2967T>A | |
| 14 | g.23423969T>A | CA389046789 | MYH7 | c.2860A>T (p.Ile954Phe) n.2966A>T | gnomAD v4 |
| 14 | g.23423969T>C | CA389046790 | MYH7 | c.2860A>G (p.Ile954Val) n.2966A>G | dbSNP gnomAD v4 |
| 14 | g.23423969T>G | CA389046792 | MYH7 | c.2860A>C (p.Ile954Leu) n.2966A>C | |
| 14 | g.23423969T= | CA2123454035 | MYH7 | c.2860A= (p.Ile954=) n.2966A= | |
| 14 | g.23423970G>A | CA034456 | MYH7 | c.2859C>T (p.Asp953=) n.2965C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423970G>C | CA389046794 | MYH7 | c.2859C>G (p.Asp953Glu) n.2965C>G | |
| 14 | g.23423970G= | CA2123454041 | MYH7 | c.2859C= (p.Asp953=) n.2965C= | |
| 14 | g.23423970G>T | CA389046795 | MYH7 | c.2859C>A (p.Asp953Glu) n.2965C>A | |
| 14 | g.23423971T>A | CA013157 | MYH7 | c.2858A>T (p.Asp953Val) n.2964A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423971T>C | CA389046798 | MYH7 | c.2858A>G (p.Asp953Gly) n.2964A>G | COSMIC |
| 14 | g.23423971T>G | CA389046800 | MYH7 | c.2858A>C (p.Asp953Ala) n.2964A>C | |
| 14 | g.23423971T= | CA2123454046 | MYH7 | c.2858A= (p.Asp953=) n.2964A= | |
| 14 | g.23423972C>A | CA389046801 | MYH7 | c.2857G>T (p.Asp953Tyr) n.2963G>T | |
| 14 | g.23423972C= | CA2123454052 | MYH7 | c.2857G= (p.Asp953=) n.2963G= | |
| 14 | g.23423972C>G | CA389046802 | MYH7 | c.2857G>C (p.Asp953His) n.2963G>C | ClinVar dbSNP |
| 14 | g.23423972C>T | CA389046804 | MYH7 | c.2857G>A (p.Asp953Asn) n.2963G>A | gnomAD v4 |
| 14 | g.23423973C>A | CA389046805 | MYH7 | c.2856G>T (p.Arg952Ser) n.2962G>T | |
| 14 | g.23423973C>G | CA389046807 | MYH7 | c.2856G>C (p.Arg952Ser) n.2962G>C | |
| 14 | g.23423973C>T | CA485766852 | MYH7 | c.2856G>A (p.Arg952=) n.2962G>A | |
| 14 | g.23423974C>A | CA389046810 | MYH7 | c.2855G>T (p.Arg952Met) n.2961G>T | |
| 14 | g.23423974C= | CA2123454057 | MYH7 | c.2855G= (p.Arg952=) n.2961G= | |
| 14 | g.23423974C>G | CA389046811 | MYH7 | c.2855G>C (p.Arg952Thr) n.2961G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423974C>T | CA389046809 | MYH7 | c.2855G>A (p.Arg952Lys) n.2961G>A | gnomAD v4 COSMIC |
| 14 | g.23423975T>A | CA389046813 | MYH7 | c.2854A>T (p.Arg952Trp) n.2960A>T | |
| 14 | g.23423975T>C | CA389046815 | MYH7 | c.2854A>G (p.Arg952Gly) n.2960A>G | |
| 14 | g.23423975T>G | CA034446 | MYH7 | c.2854A>C (p.Arg952=) n.2960A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423975T= | CA2123454065 | MYH7 | c.2854A= (p.Arg952=) n.2960A= | |
| 14 | g.23423976T>A | CA389046817 | MYH7 | c.2853A>T (p.Lys951Asn) n.2959A>T | |
| 14 | g.23423976T>C | CA485766859 | MYH7 | c.2853A>G (p.Lys951=) n.2959A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23423976T>G | CA389046818 | MYH7 | c.2853A>C (p.Lys951Asn) n.2959A>C | |
| 14 | g.23423976T= | CA2123454069 | MYH7 | c.2853A= (p.Lys951=) n.2959A= | |
| 14 | g.23423977T>A | CA389046823 | MYH7 | c.2852A>T (p.Lys951Ile) n.2958A>T | |
| 14 | g.23423977T>C | CA389046822 | MYH7 | c.2852A>G (p.Lys951Arg) n.2958A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423977T>G | CA389046820 | MYH7 | c.2852A>C (p.Lys951Thr) n.2958A>C | |
| 14 | g.23423977T= | CA2123454073 | MYH7 | c.2852A= (p.Lys951=) n.2958A= | |
| 14 | g.23423978T>A | CA389046824 | MYH7 | c.2851A>T (p.Lys951Ter) n.2957A>T | |
| 14 | g.23423978T>C | CA389046825 | MYH7 | c.2851A>G (p.Lys951Glu) n.2957A>G | |
| 14 | g.23423978T>G | CA389046827 | MYH7 | c.2851A>C (p.Lys951Gln) n.2957A>C | |
| 14 | g.23423979G>A | CA485766861 | MYH7 | c.2850C>T (p.Leu950=) n.2956C>T | |
| 14 | g.23423979G>C | CA485766862 | MYH7 | c.2850C>G (p.Leu950=) n.2956C>G | |
| 14 | g.23423979G>T | CA485766864 | MYH7 | c.2850C>A (p.Leu950=) n.2956C>A | |
| 14 | g.23423980A>C | CA389046829 | MYH7 | c.2849T>G (p.Leu950Arg) n.2955T>G | |
| 14 | g.23423980A>G | CA389046831 | MYH7 | c.2849T>C (p.Leu950Pro) n.2955T>C | |
| 14 | g.23423980A>T | CA389046832 | MYH7 | c.2849T>A (p.Leu950His) n.2955T>A | |
| 14 | g.23423981G>A | CA389046834 | MYH7 | c.2848C>T (p.Leu950Phe) n.2954C>T | gnomAD v4 |
| 14 | g.23423981G>C | CA389046837 | MYH7 | c.2848C>G (p.Leu950Val) n.2954C>G | |
| 14 | g.23423981G>T | CA389046835 | MYH7 | c.2848C>A (p.Leu950Ile) n.2954C>A | |
| 14 | g.23423982C>A | CA389046838 | MYH7 | c.2847G>T (p.Glu949Asp) n.2953G>T | |
| 14 | g.23423982C>G | CA389046840 | MYH7 | c.2847G>C (p.Glu949Asp) n.2953G>C | |
| 14 | g.23423982C>T | CA485766869 | MYH7 | c.2847G>A (p.Glu949=) n.2953G>A | dbSNP |
| 14 | g.23423983T>A | CA013153 | MYH7 | c.2846A>T (p.Glu949Val) n.2952A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423983T>C | CA389046842 | MYH7 | c.2846A>G (p.Glu949Gly) n.2952A>G | ClinVar |
| 14 | g.23423983T>G | CA389046844 | MYH7 | c.2846A>C (p.Glu949Ala) n.2952A>C | |
| 14 | g.23423983T= | CA2123454082 | MYH7 | c.2846A= (p.Glu949=) n.2952A= | |
| 14 | g.23423984C>A | CA389046845 | MYH7 | c.2845G>T (p.Glu949Ter) n.2951G>T | |
| 14 | g.23423984C= | CA2123454090 | MYH7 | c.2845G= (p.Glu949=) n.2951G= | |
| 14 | g.23423984C>G | CA389046847 | MYH7 | c.2845G>C (p.Glu949Gln) n.2951G>C | |
| 14 | g.23423984C>T | CA013144 | MYH7 | c.2845G>A (p.Glu949Lys) n.2951G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423985T>A | CA485766872 | MYH7 | c.2844A>T (p.Ser948=) n.2950A>T | |
| 14 | g.23423985T>C | CA257818906 | MYH7 | c.2844A>G (p.Ser948=) n.2950A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423985T>G | CA485766874 | MYH7 | c.2844A>C (p.Ser948=) n.2950A>C | |
| 14 | g.23423985T= | CA2123454113 | MYH7 | c.2844A= (p.Ser948=) n.2950A= | |
| 14 | g.23423986G>A | CA389046849 | MYH7 | c.2843C>T (p.Ser948Leu) n.2949C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423986G>C | CA389046850 | MYH7 | c.2843C>G (p.Ser948Ter) n.2949C>G | |
| 14 | g.23423986G= | CA2123454117 | MYH7 | c.2843C= (p.Ser948=) n.2949C= | |
| 14 | g.23423986G>T | CA389046851 | MYH7 | c.2843C>A (p.Ser948Ter) n.2949C>A | |
| 14 | g.23423987A>C | CA389046856 | MYH7 | c.2842T>G (p.Ser948Ala) n.2948T>G | |
| 14 | g.23423987A>G | CA389046855 | MYH7 | c.2842T>C (p.Ser948Pro) n.2948T>C | |
| 14 | g.23423987A>T | CA389046853 | MYH7 | c.2842T>A (p.Ser948Thr) n.2948T>A | gnomAD v4 |
| 14 | g.23423988G>A | CA485766877 | MYH7 | c.2841C>T (p.Cys947=) n.2947C>T | gnomAD v4 |
| 14 | g.23423988G>C | CA389046858 | MYH7 | c.2841C>G (p.Cys947Trp) n.2947C>G | |
| 14 | g.23423988G= | CA2123454121 | MYH7 | c.2841C= (p.Cys947=) n.2947C= | |
| 14 | g.23423988G>T | CA389046859 | MYH7 | c.2841C>A (p.Cys947Ter) n.2947C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423989C>A | CA389046861 | MYH7 | c.2840G>T (p.Cys947Phe) n.2946G>T | |
| 14 | g.23423989C>G | CA389046867 | MYH7 | c.2840G>C (p.Cys947Ser) n.2946G>C | |
| 14 | g.23423989C>T | CA389046865 | MYH7 | c.2840G>A (p.Cys947Tyr) n.2946G>A | ClinVar |
| 14 | g.23423990A>C | CA389046869 | MYH7 | c.2839T>G (p.Cys947Gly) n.2945T>G | |
| 14 | g.23423990A>G | CA389046870 | MYH7 | c.2839T>C (p.Cys947Arg) n.2945T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423990A>T | CA389046871 | MYH7 | c.2839T>A (p.Cys947Ser) n.2945T>A | |
| 14 | g.23423991C>A | CA389046873 | MYH7 | c.2838G>T (p.Glu946Asp) n.2944G>T | |
| 14 | g.23423991C>G | CA389046875 | MYH7 | c.2838G>C (p.Glu946Asp) n.2944G>C | |
| 14 | g.23423991C>T | CA485766881 | MYH7 | c.2838G>A (p.Glu946=) n.2944G>A | |
| 14 | g.23423992T>A | CA389046877 | MYH7 | c.2837A>T (p.Glu946Val) n.2943A>T | |
| 14 | g.23423992T>C | CA389046878 | MYH7 | c.2837A>G (p.Glu946Gly) n.2943A>G | COSMIC |
| 14 | g.23423992T>G | CA389046879 | MYH7 | c.2837A>C (p.Glu946Ala) n.2943A>C | |
| 14 | g.23423993C>A | CA389046881 | MYH7 | c.2836G>T (p.Glu946Ter) n.2942G>T | |
| 14 | g.23423993C= | CA2123454124 | MYH7 | c.2836G= (p.Glu946=) n.2942G= | |
| 14 | g.23423993C>G | CA389046883 | MYH7 | c.2836G>C (p.Glu946Gln) n.2942G>C | |
| 14 | g.23423993C>T | CA389046885 | MYH7 | c.2836G>A (p.Glu946Lys) n.2942G>A | dbSNP |
| 14 | g.23423994A>C | CA389046886 | MYH7 | c.2835T>G (p.Asp945Glu) n.2941T>G | |
| 14 | g.23423994A>G | CA485766884 | MYH7 | c.2835T>C (p.Asp945=) n.2941T>C | |
| 14 | g.23423994A>T | CA389046887 | MYH7 | c.2835T>A (p.Asp945Glu) n.2941T>A | |
| 14 | g.23423995T>A | CA389046891 | MYH7 | c.2834A>T (p.Asp945Val) n.2940A>T | |
| 14 | g.23423995T>C | CA389046889 | MYH7 | c.2834A>G (p.Asp945Gly) n.2940A>G | |
| 14 | g.23423995T>G | CA389046888 | MYH7 | c.2834A>C (p.Asp945Ala) n.2940A>C | gnomAD v4 |
| 14 | g.23423996C>A | CA389046893 | MYH7 | c.2833G>T (p.Asp945Tyr) n.2939G>T | |
| 14 | g.23423996C>G | CA389046894 | MYH7 | c.2833G>C (p.Asp945His) n.2939G>C | |
| 14 | g.23423996C>T | CA389046895 | MYH7 | c.2833G>A (p.Asp945Asn) n.2939G>A | COSMIC |
| 14 | g.23423997T>A | CA389046897 | MYH7 | c.2832A>T (p.Glu944Asp) n.2938A>T | |
| 14 | g.23423997T>C | CA485766889 | MYH7 | c.2832A>G (p.Glu944=) n.2938A>G | |
| 14 | g.23423997T>G | CA389046898 | MYH7 | c.2832A>C (p.Glu944Asp) n.2938A>C | COSMIC |
| 14 | g.23423998T>A | CA389046900 | MYH7 | c.2831A>T (p.Glu944Val) n.2937A>T | |
| 14 | g.23423998T>C | CA389046902 | MYH7 | c.2831A>G (p.Glu944Gly) n.2937A>G | |
| 14 | g.23423998T>G | CA389046903 | MYH7 | c.2831A>C (p.Glu944Ala) n.2937A>C | |
| 14 | g.23423999C>A | CA389046905 | MYH7 | c.2830G>T (p.Glu944Ter) n.2936G>T | |
| 14 | g.23423999C>G | CA389046906 | MYH7 | c.2830G>C (p.Glu944Gln) n.2936G>C | |
| 14 | g.23423999C>T | CA389046908 | MYH7 | c.2830G>A (p.Glu944Lys) n.2936G>A | COSMIC |
| 14 | g.23424000C>A | CA485766895 | MYH7 | c.2829G>T (p.Leu943=) n.2935G>T | |
| 14 | g.23424000C>G | CA485766896 | MYH7 | c.2829G>C (p.Leu943=) n.2935G>C | |
| 14 | g.23424000C>T | CA485766897 | MYH7 | c.2829G>A (p.Leu943=) n.2935G>A | |
| 14 | g.23424001A>C | CA389046910 | MYH7 | c.2828T>G (p.Leu943Arg) n.2934T>G | |
| 14 | g.23424001A>G | CA389046911 | MYH7 | c.2828T>C (p.Leu943Pro) n.2934T>C | |
| 14 | g.23424001A>T | CA389046912 | MYH7 | c.2828T>A (p.Leu943Gln) n.2934T>A | |
| 14 | g.23424002G>A | CA257818909 | MYH7 | c.2827C>T (p.Leu943=) n.2933C>T | ClinVar dbSNP |
| 14 | g.23424002G>C | CA389046915 | MYH7 | c.2827C>G (p.Leu943Val) n.2933C>G | |
| 14 | g.23424002G= | CA2123454126 | MYH7 | c.2827C= (p.Leu943=) n.2933C= | |
| 14 | g.23424002G>T | CA389046913 | MYH7 | c.2827C>A (p.Leu943Met) n.2933C>A | |
| 14 | g.23424003C>A | CA389046918 | MYH7 | c.2826G>T (p.Lys942Asn) n.2932G>T | |
| 14 | g.23424003C= | CA2123454127 | MYH7 | c.2826G= (p.Lys942=) n.2932G= | |
| 14 | g.23424003C>G | CA389046919 | MYH7 | c.2826G>C (p.Lys942Asn) n.2932G>C | |
| 14 | g.23424003C>T | CA485766902 | MYH7 | c.2826G>A (p.Lys942=) n.2932G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424004T>A | CA389046921 | MYH7 | c.2825A>T (p.Lys942Met) n.2931A>T | |
| 14 | g.23424004T>C | CA389046923 | MYH7 | c.2825A>G (p.Lys942Arg) n.2931A>G | dbSNP |
| 14 | g.23424004T>G | CA389046925 | MYH7 | c.2825A>C (p.Lys942Thr) n.2931A>C | |
| 14 | g.23424004T= | CA2123454128 | MYH7 | c.2825A= (p.Lys942=) n.2931A= | |
| 14 | g.23424005T>A | CA389046926 | MYH7 | c.2824A>T (p.Lys942Ter) n.2930A>T | |
| 14 | g.23424005T>C | CA389046927 | MYH7 | c.2824A>G (p.Lys942Glu) n.2930A>G | |
| 14 | g.23424005T>G | CA389046928 | MYH7 | c.2824A>C (p.Lys942Gln) n.2930A>C | |
| 14 | g.23424006G>A | CA013141 | MYH7 | c.2823C>T (p.Arg941=) n.2929C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424006G>C | CA485766909 | MYH7 | c.2823C>G (p.Arg941=) n.2929C>G | gnomAD v4 |
| 14 | g.23424006G= | CA2123454131 | MYH7 | c.2823C= (p.Arg941=) n.2929C= | |
| 14 | g.23424006G>T | CA485766911 | MYH7 | c.2823C>A (p.Arg941=) n.2929C>A | |
| 14 | g.23424007C>A | CA389046932 | MYH7 | c.2822G>T (p.Arg941Leu) n.2928G>T | ClinVar gnomAD v4 |
| 14 | g.23424007C= | CA2123454138 | MYH7 | c.2822G= (p.Arg941=) n.2928G= | |
| 14 | g.23424007C>G | CA389046933 | MYH7 | c.2822G>C (p.Arg941Pro) n.2928G>C | ClinVar dbSNP |
| 14 | g.23424007C>T | CA034403 | MYH7 | c.2822G>A (p.Arg941His) n.2928G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424008G>A | CA389046936 | MYH7 | c.2821C>T (p.Arg941Cys) n.2927C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23424008G>C | CA389046935 | MYH7 | c.2821C>G (p.Arg941Gly) n.2927C>G | gnomAD v4 |
| 14 | g.23424008G= | CA2123454145 | MYH7 | c.2821C= (p.Arg941=) n.2927C= | |
| 14 | g.23424008G>T | CA034383 | MYH7 | c.2821C>A (p.Arg941Ser) n.2927C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23424009C>A | CA389046937 | MYH7 | c.2820G>T (p.Lys940Asn) n.2926G>T | |
| 14 | g.23424009C>G | CA389046939 | MYH7 | c.2820G>C (p.Lys940Asn) n.2926G>C | |
| 14 | g.23424009C>T | CA485766915 | MYH7 | c.2820G>A (p.Lys940=) n.2926G>A | ClinVar |
| 14 | g.23424010T>A | CA389046940 | MYH7 | c.2819A>T (p.Lys940Met) n.2925A>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424010T>C | CA389046941 | MYH7 | c.2819A>G (p.Lys940Arg) n.2925A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424010T>G | CA389046943 | MYH7 | c.2819A>C (p.Lys940Thr) n.2925A>C | ClinVar gnomAD v4 |
| 14 | g.23424010T= | CA2123454149 | MYH7 | c.2819A= (p.Lys940=) n.2925A= | |
| 14 | g.23424011T>A | CA389046944 | MYH7 | c.2818A>T (p.Lys940Ter) n.2924A>T | |
| 14 | g.23424011T>C | CA389046946 | MYH7 | c.2818A>G (p.Lys940Glu) n.2924A>G | |
| 14 | g.23424011T>G | CA389046948 | MYH7 | c.2818A>C (p.Lys940Gln) n.2924A>C | |
| 14 | g.23424012C>A | CA389046949 | MYH7 | c.2817G>T (p.Lys939Asn) n.2923G>T | |
| 14 | g.23424012C>G | CA389046951 | MYH7 | c.2817G>C (p.Lys939Asn) n.2923G>C | |
| 14 | g.23424012C>T | CA485766926 | MYH7 | c.2817G>A (p.Lys939=) n.2923G>A | |
| 14 | g.23424013T>A | CA389046952 | MYH7 | c.2816A>T (p.Lys939Met) n.2922A>T | |
| 14 | g.23424013T>C | CA389046954 | MYH7 | c.2816A>G (p.Lys939Arg) n.2922A>G | gnomAD v4 |
| 14 | g.23424013T>G | CA389046955 | MYH7 | c.2816A>C (p.Lys939Thr) n.2922A>C | |
| 14 | g.23424014T>A | CA389046959 | MYH7 | c.2815A>T (p.Lys939Ter) n.2921A>T | |
| 14 | g.23424014T>C | CA389046960 | MYH7 | c.2815A>G (p.Lys939Glu) n.2921A>G | ClinVar |
| 14 | g.23424014T>G | CA389046957 | MYH7 | c.2815A>C (p.Lys939Gln) n.2921A>C | ClinVar dbSNP |
| 14 | g.23424014T= | CA2123454155 | MYH7 | c.2815A= (p.Lys939=) n.2921A= | |
| 14 | g.23424015G>A | CA485766931 | MYH7 | c.2814C>T (p.Ala938=) n.2920C>T | |
| 14 | g.23424015G>C | CA485766936 | MYH7 | c.2814C>G (p.Ala938=) n.2920C>G | |
| 14 | g.23424015G>T | CA485766933 | MYH7 | c.2814C>A (p.Ala938=) n.2920C>A | |
| 14 | g.23424016G>A | CA389046962 | MYH7 | c.2813C>T (p.Ala938Val) n.2919C>T | |
| 14 | g.23424016G>C | CA389046964 | MYH7 | c.2813C>G (p.Ala938Gly) n.2919C>G | |
| 14 | g.23424016G>T | CA389046963 | MYH7 | c.2813C>A (p.Ala938Asp) n.2919C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424017C>A | CA013131 | MYH7 | c.2812G>T (p.Ala938Ser) n.2918G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424017C= | CA2123454164 | MYH7 | c.2812G= (p.Ala938=) n.2918G= | |
| 14 | g.23424017C>G | CA389046967 | MYH7 | c.2812G>C (p.Ala938Pro) n.2918G>C | |
| 14 | g.23424017C>T | CA389046969 | MYH7 | c.2812G>A (p.Ala938Thr) n.2918G>A | |
| 14 | g.23424018A>C | CA485766939 | MYH7 | c.2811T>G (p.Thr937=) n.2917T>G | |
| 14 | g.23424018A>G | CA485766941 | MYH7 | c.2811T>C (p.Thr937=) n.2917T>C | gnomAD v4 |
| 14 | g.23424018A>T | CA485766942 | MYH7 | c.2811T>A (p.Thr937=) n.2917T>A | |
| 14 | g.23424019G>A | CA389046970 | MYH7 | c.2810C>T (p.Thr937Ile) n.2916C>T | ClinVar dbSNP |
| 14 | g.23424019G>C | CA389046971 | MYH7 | c.2810C>G (p.Thr937Ser) n.2916C>G | ClinVar |
| 14 | g.23424019G>T | CA389046972 | MYH7 | c.2810C>A (p.Thr937Asn) n.2916C>A | ClinVar |
| 14 | g.23424020T>A | CA389046974 | MYH7 | c.2809A>T (p.Thr937Ser) n.2915A>T | gnomAD v4 |
| 14 | g.23424020T>C | CA389046976 | MYH7 | c.2809A>G (p.Thr937Ala) n.2915A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424020T>G | CA389046977 | MYH7 | c.2809A>C (p.Thr937Pro) n.2915A>C | |
| 14 | g.23424021G>A | CA485766946 | MYH7 | c.2808C>T (p.Leu936=) n.2914C>T | ClinVar |
| 14 | g.23424021G>C | CA485766947 | MYH7 | c.2808C>G (p.Leu936=) n.2914C>G | |
| 14 | g.23424021G>T | CA485766949 | MYH7 | c.2808C>A (p.Leu936=) n.2914C>A | |
| 14 | g.23424022A>C | CA389046978 | MYH7 | c.2807T>G (p.Leu936Arg) n.2913T>G | |
| 14 | g.23424022A>G | CA389046979 | MYH7 | c.2807T>C (p.Leu936Pro) n.2913T>C | |
| 14 | g.23424022A>T | CA389046981 | MYH7 | c.2807T>A (p.Leu936His) n.2913T>A | |
| 14 | g.23424023G>A | CA389046986 | MYH7 | c.2806C>T (p.Leu936Phe) n.2912C>T | dbSNP gnomAD v4 |
| 14 | g.23424023G>C | CA389046983 | MYH7 | c.2806C>G (p.Leu936Val) n.2912C>G | |
| 14 | g.23424023G= | CA2123454169 | MYH7 | c.2806C= (p.Leu936=) n.2912C= | |
| 14 | g.23424023G>T | CA389046985 | MYH7 | c.2806C>A (p.Leu936Ile) n.2912C>A | COSMIC |
| 14 | g.23424024C>A | CA389046988 | MYH7 | c.2805G>T (p.Glu935Asp) n.2911G>T | |
| 14 | g.23424024C= | CA2123454173 | MYH7 | c.2805G= (p.Glu935=) n.2911G= | |
| 14 | g.23424024C>G | CA389046990 | MYH7 | c.2805G>C (p.Glu935Asp) n.2911G>C | |
| 14 | g.23424024C>T | CA257818917 | MYH7 | c.2805G>A (p.Glu935=) n.2911G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424025T>A | CA013125 | MYH7 | c.2804A>T (p.Glu935Val) n.2910A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424025T>C | CA389046992 | MYH7 | c.2804A>G (p.Glu935Gly) n.2910A>G | |
| 14 | g.23424025T>G | CA389046994 | MYH7 | c.2804A>C (p.Glu935Ala) n.2910A>C | |
| 14 | g.23424025T= | CA2123454177 | MYH7 | c.2804A= (p.Glu935=) n.2910A= | |
| 14 | g.23424026C>A | CA389046996 | MYH7 | c.2803G>T (p.Glu935Ter) n.2909G>T | |
| 14 | g.23424026C= | CA2123454199 | MYH7 | c.2803G= (p.Glu935=) n.2909G= | |
| 14 | g.23424026C>G | CA389046997 | MYH7 | c.2803G>C (p.Glu935Gln) n.2909G>C | |
| 14 | g.23424026C>T | CA013118 | MYH7 | c.2803G>A (p.Glu935Lys) n.2909G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424027A= | CA2123454212 | MYH7 | c.2802T= (p.Ala934=) n.2908T= | |
| 14 | g.23424027A>C | CA013111 | MYH7 | c.2802T>G (p.Ala934=) n.2908T>G | ClinVar dbSNP |
| 14 | g.23424027A>G | CA485767053 | MYH7 | c.2802T>C (p.Ala934=) n.2908T>C | ClinVar dbSNP |
| 14 | g.23424027A>T | CA485767054 | MYH7 | c.2802T>A (p.Ala934=) n.2908T>A | |
| 14 | g.23424028G>A | CA389047003 | MYH7 | c.2801C>T (p.Ala934Val) n.2907C>T | |
| 14 | g.23424028G>C | CA389047002 | MYH7 | c.2801C>G (p.Ala934Gly) n.2907C>G | |
| 14 | g.23424028G>T | CA389047000 | MYH7 | c.2801C>A (p.Ala934Asp) n.2907C>A | gnomAD v4 |
| 14 | g.23424029C>A | CA389047005 | MYH7 | c.2800G>T (p.Ala934Ser) n.2906G>T | |
| 14 | g.23424029C>G | CA389047007 | MYH7 | c.2800G>C (p.Ala934Pro) n.2906G>C | |
| 14 | g.23424029C>T | CA389047008 | MYH7 | c.2800G>A (p.Ala934Thr) n.2906G>A | |
| 14 | g.23424030A= | CA2123454223 | MYH7 | c.2799T= (p.Asn933=) n.2905T= | |
| 14 | g.23424030A>C | CA389047010 | MYH7 | c.2799T>G (p.Asn933Lys) n.2905T>G | |
| 14 | g.23424030A>G | CA013106 | MYH7 | c.2799T>C (p.Asn933=) n.2905T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424030A>T | CA389047011 | MYH7 | c.2799T>A (p.Asn933Lys) n.2905T>A | |
| 14 | g.23424031T>A | CA389047014 | MYH7 | c.2798A>T (p.Asn933Ile) n.2904A>T | |
| 14 | g.23424031T>C | CA389047015 | MYH7 | c.2798A>G (p.Asn933Ser) n.2904A>G | dbSNP |
| 14 | g.23424031T>G | CA389047016 | MYH7 | c.2798A>C (p.Asn933Thr) n.2904A>C | |
| 14 | g.23424031T= | CA2123454227 | MYH7 | c.2798A= (p.Asn933=) n.2904A= | |
| 14 | g.23424032T>A | CA389047017 | MYH7 | c.2797A>T (p.Asn933Tyr) n.2903A>T | |
| 14 | g.23424032T>C | CA389047019 | MYH7 | c.2797A>G (p.Asn933Asp) n.2903A>G | |
| 14 | g.23424032T>G | CA389047021 | MYH7 | c.2797A>C (p.Asn933His) n.2903A>C | |
| 14 | g.23424033C>A | CA389047025 | MYH7 | c.2796G>T (p.Met932Ile) n.2902G>T | gnomAD v4 |
| 14 | g.23424033C>G | CA389047024 | MYH7 | c.2796G>C (p.Met932Ile) n.2902G>C | |
| 14 | g.23424033C>T | CA389047022 | MYH7 | c.2796G>A (p.Met932Ile) n.2902G>A | |
| 14 | g.23424034A= | CA2123454230 | MYH7 | c.2795T= (p.Met932=) n.2901T= | |
| 14 | g.23424034A>C | CA389047026 | MYH7 | c.2795T>G (p.Met932Arg) n.2901T>G | |
| 14 | g.23424034A>G | CA013102 | MYH7 | c.2795T>C (p.Met932Thr) n.2901T>C | ClinVar dbSNP |
| 14 | g.23424034A>T | CA389047028 | MYH7 | c.2795T>A (p.Met932Lys) n.2901T>A | |
| 14 | g.23424035T>A | CA389047031 | MYH7 | c.2794A>T (p.Met932Leu) n.2900A>T | |
| 14 | g.23424035T>C | CA389047032 | MYH7 | c.2794A>G (p.Met932Val) n.2900A>G | |
| 14 | g.23424035T>G | CA389047035 | MYH7 | c.2794A>C (p.Met932Leu) n.2900A>C | |
| 14 | g.23424035_23424038delinsTCTC | CA2123454233 | MYH7 | c.2791_2794delinsGAGA (p.Glu931=) n.2897_2900delinsGAGA | |
| 14 | g.23424036C>A | CA389047037 | MYH7 | c.2793G>T (p.Glu931Asp) n.2899G>T | |
| 14 | g.23424036C= | CA2123454239 | MYH7 | c.2793G= (p.Glu931=) n.2899G= | |
| 14 | g.23424036C>G | CA389047039 | MYH7 | c.2793G>C (p.Glu931Asp) n.2899G>C | |
| 14 | g.23424036C>T | CA485767076 | MYH7 | c.2793G>A (p.Glu931=) n.2899G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424042_23424044del | CA013089 | MYH7 | c.2791_2793del (p.Glu931del) n.2897_2899del | ClinVar dbSNP |
| 14 | g.23424037T>A | CA389047041 | MYH7 | c.2792A>T (p.Glu931Val) n.2898A>T | |
| 14 | g.23424037T>C | CA013097 | MYH7 | c.2792A>G (p.Glu931Gly) n.2898A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424037T>G | CA389047043 | MYH7 | c.2792A>C (p.Glu931Ala) n.2898A>C | |
| 14 | g.23424037T= | CA2123454246 | MYH7 | c.2792A= (p.Glu931=) n.2898A= | |
| 14 | g.23424038C>A | CA389047047 | MYH7 | c.2791G>T (p.Glu931Ter) n.2897G>T | ClinVar dbSNP |
| 14 | g.23424038C= | CA2123454251 | MYH7 | c.2791G= (p.Glu931=) n.2897G= | |
| 14 | g.23424038C>G | CA389047046 | MYH7 | c.2791G>C (p.Glu931Gln) n.2897G>C | |
| 14 | g.23424038C>T | CA389047044 | MYH7 | c.2791G>A (p.Glu931Lys) n.2897G>A | ClinVar dbSNP COSMIC |
| 14 | g.23424039C>A | CA389047048 | MYH7 | c.2790G>T (p.Glu930Asp) n.2896G>T | |
| 14 | g.23424039C>G | CA389047049 | MYH7 | c.2790G>C (p.Glu930Asp) n.2896G>C | |
| 14 | g.23424039C>T | CA485767083 | MYH7 | c.2790G>A (p.Glu930=) n.2896G>A | |
| 14 | g.23424040T>A | CA389047051 | MYH7 | c.2789A>T (p.Glu930Val) n.2895A>T | |
| 14 | g.23424040T>C | CA389047054 | MYH7 | c.2789A>G (p.Glu930Gly) n.2895A>G | |
| 14 | g.23424040T>G | CA389047052 | MYH7 | c.2789A>C (p.Glu930Ala) n.2895A>C | |
| 14 | g.23424041C>A | CA389047055 | MYH7 | c.2788G>T (p.Glu930Ter) n.2894G>T | |
| 14 | g.23424041C= | CA2123454267 | MYH7 | c.2788G= (p.Glu930=) n.2894G= | |
| 14 | g.23424041C>G | CA013084 | MYH7 | c.2788G>C (p.Glu930Gln) n.2894G>C | ClinVar dbSNP |
| 14 | g.23424041C>T | CA013078 | MYH7 | c.2788G>A (p.Glu930Lys) n.2894G>A | ClinVar dbSNP |
| 14 | g.23424042C>A | CA389047058 | MYH7 | c.2787G>T (p.Glu929Asp) n.2893G>T | |
| 14 | g.23424042C= | CA2123454276 | MYH7 | c.2787G= (p.Glu929=) n.2893G= | |
| 14 | g.23424042C>G | CA034324 | MYH7 | c.2787G>C (p.Glu929Asp) n.2893G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424042C>T | CA485767086 | MYH7 | c.2787G>A (p.Glu929=) n.2893G>A | |
| 14 | g.23424043T>A | CA389047060 | MYH7 | c.2786A>T (p.Glu929Val) n.2892A>T | |
| 14 | g.23424043T>C | CA389047061 | MYH7 | c.2786A>G (p.Glu929Gly) n.2892A>G | |
| 14 | g.23424043T>G | CA389047062 | MYH7 | c.2786A>C (p.Glu929Ala) n.2892A>C | |
| 14 | g.23424043dup | CA2499222591 | MYH7 | c.2786dup (p.Glu930GlyfsTer6) n.2892dup | ClinVar dbSNP |
| 14 | g.23424044C>A | CA389047064 | MYH7 | c.2785G>T (p.Glu929Ter) n.2891G>T | gnomAD v4 |
| 14 | g.23424044C= | CA2123454285 | MYH7 | c.2785G= (p.Glu929=) n.2891G= | |
| 14 | g.23424044C>G | CA389047066 | MYH7 | c.2785G>C (p.Glu929Gln) n.2891G>C | ClinVar dbSNP |
| 14 | g.23424044C>T | CA013070 | MYH7 | c.2785G>A (p.Glu929Lys) n.2891G>A | ClinVar dbSNP |
| 14 | g.23424045A= | CA2123454293 | MYH7 | c.2784T= (p.Asp928=) n.2890T= | |
| 14 | g.23424045A>C | CA389047070 | MYH7 | c.2784T>G (p.Asp928Glu) n.2890T>G | |
| 14 | g.23424045A>G | CA485767089 | MYH7 | c.2784T>C (p.Asp928=) n.2890T>C | dbSNP |
| 14 | g.23424045A>T | CA389047068 | MYH7 | c.2784T>A (p.Asp928Glu) n.2890T>A | |
| 14 | g.23424045_23424048delinsATCC | CA2123454292 | MYH7 | c.2781_2784delinsGGAT (p.Glu927=) n.2887_2890delinsGGAT | |
| 14 | g.23424046T>A | CA013062 | MYH7 | c.2783A>T (p.Asp928Val) n.2889A>T | ClinVar dbSNP |
| 14 | g.23424046T>C | CA389047071 | MYH7 | c.2783A>G (p.Asp928Gly) n.2889A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424046T>G | CA013057 | MYH7 | c.2783A>C (p.Asp928Ala) n.2889A>C | ClinVar dbSNP |
| 14 | g.23424046T= | CA2123454301 | MYH7 | c.2783A= (p.Asp928=) n.2889A= | |
| 14 | g.23424049_23424051del | CA704292177 | MYH7 | c.2781_2783del (p.Glu927del) n.2887_2889del | dbSNP |
| 14 | g.23424047C>A | CA389047072 | MYH7 | c.2782G>T (p.Asp928Tyr) n.2888G>T | |
| 14 | g.23424047C= | CA2123454303 | MYH7 | c.2782G= (p.Asp928=) n.2888G= | |
| 14 | g.23424047C>G | CA389047074 | MYH7 | c.2782G>C (p.Asp928His) n.2888G>C | |
| 14 | g.23424047C>T | CA013046 | MYH7 | c.2782G>A (p.Asp928Asn) n.2888G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424048C>A | CA389047077 | MYH7 | c.2781G>T (p.Glu927Asp) n.2887G>T | |
| 14 | g.23424048C= | CA2123454307 | MYH7 | c.2781G= (p.Glu927=) n.2887G= | |
| 14 | g.23424048C>G | CA389047078 | MYH7 | c.2781G>C (p.Glu927Asp) n.2887G>C | |
| 14 | g.23424048C>T | CA485767096 | MYH7 | c.2781G>A (p.Glu927=) n.2887G>A | dbSNP gnomAD v4 |
| 14 | g.23424049T>A | CA389047079 | MYH7 | c.2780A>T (p.Glu927Val) n.2886A>T | |
| 14 | g.23424049T>C | CA034303 | MYH7 | c.2780A>G (p.Glu927Gly) n.2886A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424049T>G | CA389047081 | MYH7 | c.2780A>C (p.Glu927Ala) n.2886A>C | |
| 14 | g.23424049T= | CA2123454311 | MYH7 | c.2780A= (p.Glu927=) n.2886A= | |
| 14 | g.23424050C>A | CA389047084 | MYH7 | c.2779G>T (p.Glu927Ter) n.2885G>T | ClinVar dbSNP |
| 14 | g.23424050C= | CA2123454320 | MYH7 | c.2779G= (p.Glu927=) n.2885G= | |
| 14 | g.23424050C>G | CA389047085 | MYH7 | c.2779G>C (p.Glu927Gln) n.2885G>C | |
| 14 | g.23424050C>T | CA013043 | MYH7 | c.2779G>A (p.Glu927Lys) n.2885G>A | ClinVar dbSNP |
| 14 | g.23424050_23424052del | CA2580087896 | MYH7 | c.2777_2779del (p.Leu926_Glu927delinsGln) n.2883_2885del | ClinVar |