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.23423602T>A | CA389045795 | MYH7 | c.3044A>T (p.Asp1015Val) n.3150A>T | |
| 14 | g.23423602T>C | CA389045797 | MYH7 | c.3044A>G (p.Asp1015Gly) n.3150A>G | gnomAD v4 |
| 14 | g.23423602T>G | CA389045798 | MYH7 | c.3044A>C (p.Asp1015Ala) n.3150A>C | |
| 14 | g.23423603C>A | CA389045802 | MYH7 | c.3043G>T (p.Asp1015Tyr) n.3149G>T | |
| 14 | g.23423603C>G | CA389045801 | MYH7 | c.3043G>C (p.Asp1015His) n.3149G>C | |
| 14 | g.23423603C>T | CA389045800 | MYH7 | c.3043G>A (p.Asp1015Asn) n.3149G>A | |
| 14 | g.23423604C>A | CA389045804 | MYH7 | c.3042G>T (p.Glu1014Asp) n.3148G>T | |
| 14 | g.23423604C= | CA2123453166 | MYH7 | c.3042G= (p.Glu1014=) n.3148G= | |
| 14 | g.23423604C>G | CA389045805 | MYH7 | c.3042G>C (p.Glu1014Asp) n.3148G>C | |
| 14 | g.23423604C>T | CA485622596 | MYH7 | c.3042G>A (p.Glu1014=) n.3148G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423605T>A | CA389045807 | MYH7 | c.3041A>T (p.Glu1014Val) n.3147A>T | gnomAD v4 |
| 14 | g.23423605T>C | CA389045808 | MYH7 | c.3041A>G (p.Glu1014Gly) n.3147A>G | |
| 14 | g.23423605T>G | CA389045809 | MYH7 | c.3041A>C (p.Glu1014Ala) n.3147A>C | |
| 14 | g.23423606C>A | CA389045811 | MYH7 | c.3040G>T (p.Glu1014Ter) n.3146G>T | |
| 14 | g.23423606C= | CA2123453170 | MYH7 | c.3040G= (p.Glu1014=) n.3146G= | |
| 14 | g.23423606C>G | CA389045812 | MYH7 | c.3040G>C (p.Glu1014Gln) n.3146G>C | |
| 14 | g.23423606C>T | CA035343 | MYH7 | c.3040G>A (p.Glu1014Lys) n.3146G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423607C>A | CA257818711 | MYH7 | c.3039G>T (p.Glu1013Asp) n.3145G>T | dbSNP |
| 14 | g.23423607C= | CA2123453173 | MYH7 | c.3039G= (p.Glu1013=) n.3145G= | |
| 14 | g.23423607C>G | CA389045815 | MYH7 | c.3039G>C (p.Glu1013Asp) n.3145G>C | |
| 14 | g.23423607C>T | CA485622598 | MYH7 | c.3039G>A (p.Glu1013=) n.3145G>A | |
| 14 | g.23423608T>A | CA389045817 | MYH7 | c.3038A>T (p.Glu1013Val) n.3144A>T | |
| 14 | g.23423608T>C | CA389045818 | MYH7 | c.3038A>G (p.Glu1013Gly) n.3144A>G | gnomAD v4 |
| 14 | g.23423608T>G | CA389045820 | MYH7 | c.3038A>C (p.Glu1013Ala) n.3144A>C | |
| 14 | g.23423609C>A | CA389045822 | MYH7 | c.3037G>T (p.Glu1013Ter) n.3143G>T | gnomAD v4 |
| 14 | g.23423609C= | CA2123453182 | MYH7 | c.3037G= (p.Glu1013=) n.3143G= | |
| 14 | g.23423609C>G | CA389045821 | MYH7 | c.3037G>C (p.Glu1013Gln) n.3143G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423609C>T | CA013322 | MYH7 | c.3037G>A (p.Glu1013Lys) n.3143G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23423610G>A | CA013313 | MYH7 | c.3036C>T (p.Ala1012=) n.3142C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423610G>C | CA485622599 | MYH7 | c.3036C>G (p.Ala1012=) n.3142C>G | |
| 14 | g.23423610G= | CA2123453193 | MYH7 | c.3036C= (p.Ala1012=) n.3142C= | |
| 14 | g.23423610G>T | CA485622600 | MYH7 | c.3036C>A (p.Ala1012=) n.3142C>A | gnomAD v4 |
| 14 | g.23423611G>A | CA389045824 | MYH7 | c.3035C>T (p.Ala1012Val) n.3141C>T | gnomAD v4 |
| 14 | g.23423611G>C | CA389045825 | MYH7 | c.3035C>G (p.Ala1012Gly) n.3141C>G | |
| 14 | g.23423611G= | CA2123453203 | MYH7 | c.3035C= (p.Ala1012=) n.3141C= | |
| 14 | g.23423611G>T | CA035299 | MYH7 | c.3035C>A (p.Ala1012Asp) n.3141C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423612C>A | CA389045828 | MYH7 | c.3034G>T (p.Ala1012Ser) n.3140G>T | |
| 14 | g.23423612C>G | CA389045829 | MYH7 | c.3034G>C (p.Ala1012Pro) n.3140G>C | |
| 14 | g.23423612C>T | CA389045830 | MYH7 | c.3034G>A (p.Ala1012Thr) n.3140G>A | |
| 14 | g.23423613C>A | CA389045831 | MYH7 | c.3033G>T (p.Gln1011His) n.3139G>T | |
| 14 | g.23423613C>G | CA389045832 | MYH7 | c.3033G>C (p.Gln1011His) n.3139G>C | |
| 14 | g.23423613C>T | CA485622601 | MYH7 | c.3033G>A (p.Gln1011=) n.3139G>A | COSMIC |
| 14 | g.23423614T>A | CA389045834 | MYH7 | c.3032A>T (p.Gln1011Leu) n.3138A>T | |
| 14 | g.23423614T>C | CA389045836 | MYH7 | c.3032A>G (p.Gln1011Arg) n.3138A>G | |
| 14 | g.23423614T>G | CA389045837 | MYH7 | c.3032A>C (p.Gln1011Pro) n.3138A>C | |
| 14 | g.23423615G>A | CA389045842 | MYH7 | c.3031C>T (p.Gln1011Ter) n.3137C>T | |
| 14 | g.23423615G>C | CA389045844 | MYH7 | c.3031C>G (p.Gln1011Glu) n.3137C>G | |
| 14 | g.23423615G>T | CA389045840 | MYH7 | c.3031C>A (p.Gln1011Lys) n.3137C>A | |
| 14 | g.23423616A= | CA2123453207 | MYH7 | c.3030T= (p.Leu1010=) n.3136T= | |
| 14 | g.23423616A>C | CA035281 | MYH7 | c.3030T>G (p.Leu1010=) n.3136T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423616A>G | CA485622603 | MYH7 | c.3030T>C (p.Leu1010=) n.3136T>C | |
| 14 | g.23423616A>T | CA485622602 | MYH7 | c.3030T>A (p.Leu1010=) n.3136T>A | |
| 14 | g.23423617A>C | CA389045846 | MYH7 | c.3029T>G (p.Leu1010Arg) n.3135T>G | |
| 14 | g.23423617A>G | CA389045849 | MYH7 | c.3029T>C (p.Leu1010Pro) n.3135T>C | |
| 14 | g.23423617A>T | CA389045848 | MYH7 | c.3029T>A (p.Leu1010His) n.3135T>A | |
| 14 | g.23423618G>A | CA035267 | MYH7 | c.3028C>T (p.Leu1010Phe) n.3134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423618G>C | CA389045852 | MYH7 | c.3028C>G (p.Leu1010Val) n.3134C>G | |
| 14 | g.23423618G= | CA2123453211 | MYH7 | c.3028C= (p.Leu1010=) n.3134C= | |
| 14 | g.23423618G>T | CA389045851 | MYH7 | c.3028C>A (p.Leu1010Ile) n.3134C>A | |
| 14 | g.23423619G>A | CA485622604 | MYH7 | c.3027C>T (p.Asp1009=) n.3133C>T | |
| 14 | g.23423619G>C | CA389045853 | MYH7 | c.3027C>G (p.Asp1009Glu) n.3133C>G | |
| 14 | g.23423619G>T | CA389045854 | MYH7 | c.3027C>A (p.Asp1009Glu) n.3133C>A | |
| 14 | g.23423620T>A | CA389045856 | MYH7 | c.3026A>T (p.Asp1009Val) n.3132A>T | |
| 14 | g.23423620T>C | CA389045859 | MYH7 | c.3026A>G (p.Asp1009Gly) n.3132A>G | ClinVar dbSNP |
| 14 | g.23423620T>G | CA389045858 | MYH7 | c.3026A>C (p.Asp1009Ala) n.3132A>C | |
| 14 | g.23423620T= | CA2123453214 | MYH7 | c.3026A= (p.Asp1009=) n.3132A= | |
| 14 | g.23423621C>A | CA389045860 | MYH7 | c.3025G>T (p.Asp1009Tyr) n.3131G>T | |
| 14 | g.23423621C>G | CA389045862 | MYH7 | c.3025G>C (p.Asp1009His) n.3131G>C | |
| 14 | g.23423621C>T | CA389045863 | MYH7 | c.3025G>A (p.Asp1009Asn) n.3131G>A | gnomAD v4 |
| 14 | g.23423622A>C | CA389045865 | MYH7 | c.3024T>G (p.Asp1008Glu) n.3130T>G | |
| 14 | g.23423622A>G | CA485622605 | MYH7 | c.3024T>C (p.Asp1008=) n.3130T>C | |
| 14 | g.23423622A>T | CA389045866 | MYH7 | c.3024T>A (p.Asp1008Glu) n.3130T>A | |
| 14 | g.23423623T>A | CA389045868 | MYH7 | c.3023A>T (p.Asp1008Val) n.3129A>T | |
| 14 | g.23423623T>C | CA389045869 | MYH7 | c.3023A>G (p.Asp1008Gly) n.3129A>G | gnomAD v4 |
| 14 | g.23423623T>G | CA389045870 | MYH7 | c.3023A>C (p.Asp1008Ala) n.3129A>C | |
| 14 | g.23423624C>A | CA389045872 | MYH7 | c.3022G>T (p.Asp1008Tyr) n.3128G>T | |
| 14 | g.23423624C>G | CA389045873 | MYH7 | c.3022G>C (p.Asp1008His) n.3128G>C | ClinVar |
| 14 | g.23423624C>T | CA389045875 | MYH7 | c.3022G>A (p.Asp1008Asn) n.3128G>A | |
| 14 | g.23423625C>A | CA485622606 | MYH7 | c.3021G>T (p.Leu1007=) n.3127G>T | |
| 14 | g.23423625C= | CA2123453239 | MYH7 | c.3021G= (p.Leu1007=) n.3127G= | |
| 14 | g.23423625C>G | CA485622607 | MYH7 | c.3021G>C (p.Leu1007=) n.3127G>C | |
| 14 | g.23423625C>T | CA485622608 | MYH7 | c.3021G>A (p.Leu1007=) n.3127G>A | dbSNP |
| 14 | g.23423626A= | CA2123453247 | MYH7 | c.3020T= (p.Leu1007=) n.3126T= | |
| 14 | g.23423626A>C | CA389045878 | MYH7 | c.3020T>G (p.Leu1007Arg) n.3126T>G | |
| 14 | g.23423626A>G | CA013309 | MYH7 | c.3020T>C (p.Leu1007Pro) n.3126T>C | ClinVar dbSNP |
| 14 | g.23423626A>T | CA389045877 | MYH7 | c.3020T>A (p.Leu1007Gln) n.3126T>A | |
| 14 | g.23423627G>A | CA485622609 | MYH7 | c.3019C>T (p.Leu1007=) n.3125C>T | |
| 14 | g.23423627G>C | CA389045880 | MYH7 | c.3019C>G (p.Leu1007Val) n.3125C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423627G= | CA2123453251 | MYH7 | c.3019C= (p.Leu1007=) n.3125C= | |
| 14 | g.23423627G>T | CA389045881 | MYH7 | c.3019C>A (p.Leu1007Met) n.3125C>A | |
| 14 | g.23423628A= | CA2123453260 | MYH7 | c.3018T= (p.Ala1006=) n.3124T= | |
| 14 | g.23423628A>C | CA485622610 | MYH7 | c.3018T>G (p.Ala1006=) n.3124T>G | |
| 14 | g.23423628A>G | CA485622611 | MYH7 | c.3018T>C (p.Ala1006=) n.3124T>C | dbSNP |
| 14 | g.23423628A>T | CA485622612 | MYH7 | c.3018T>A (p.Ala1006=) n.3124T>A | |
| 14 | g.23423629G>A | CA389045883 | MYH7 | c.3017C>T (p.Ala1006Val) n.3123C>T | gnomAD v4 |
| 14 | g.23423629G>C | CA389045885 | MYH7 | c.3017C>G (p.Ala1006Gly) n.3123C>G | |
| 14 | g.23423629G>T | CA389045886 | MYH7 | c.3017C>A (p.Ala1006Asp) n.3123C>A | |
| 14 | g.23423630C>A | CA389045887 | MYH7 | c.3016G>T (p.Ala1006Ser) n.3122G>T | |
| 14 | g.23423630C= | CA2123453263 | MYH7 | c.3016G= (p.Ala1006=) n.3122G= | |
| 14 | g.23423630C>G | CA389045888 | MYH7 | c.3016G>C (p.Ala1006Pro) n.3122G>C | |
| 14 | g.23423630C>T | CA389045889 | MYH7 | c.3016G>A (p.Ala1006Thr) n.3122G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423631C>A | CA389045891 | MYH7 | c.3015G>T (p.Gln1005His) n.3121G>T | |
| 14 | g.23423631C= | CA2123453270 | MYH7 | c.3015G= (p.Gln1005=) n.3121G= | |
| 14 | g.23423631C>G | CA389045893 | MYH7 | c.3015G>C (p.Gln1005His) n.3121G>C | gnomAD v4 |
| 14 | g.23423631C>T | CA485622613 | MYH7 | c.3015G>A (p.Gln1005=) n.3121G>A | dbSNP gnomAD v4 |
| 14 | g.23423631_23423656dup | CA2729049680 | MYH7 | c.2990_3015dup (p.Ala1006LysfsTer24) n.3096_3121dup | dbSNP |
| 14 | g.23423632T>A | CA389045897 | MYH7 | c.3014A>T (p.Gln1005Leu) n.3120A>T | |
| 14 | g.23423632T>C | CA389045896 | MYH7 | c.3014A>G (p.Gln1005Arg) n.3120A>G | gnomAD v4 |
| 14 | g.23423632T>G | CA389045895 | MYH7 | c.3014A>C (p.Gln1005Pro) n.3120A>C | |
| 14 | g.23423633G>A | CA389045898 | MYH7 | c.3013C>T (p.Gln1005Ter) n.3119C>T | |
| 14 | g.23423633G>C | CA389045900 | MYH7 | c.3013C>G (p.Gln1005Glu) n.3119C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423633G= | CA2123453275 | MYH7 | c.3013C= (p.Gln1005=) n.3119C= | |
| 14 | g.23423633G>T | CA389045901 | MYH7 | c.3013C>A (p.Gln1005Lys) n.3119C>A | |
| 14 | g.23423634T>A | CA389045903 | MYH7 | c.3012A>T (p.Gln1004His) n.3118A>T | |
| 14 | g.23423634T>C | CA035254 | MYH7 | c.3012A>G (p.Gln1004=) n.3118A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423634T>G | CA389045905 | MYH7 | c.3012A>C (p.Gln1004His) n.3118A>C | |
| 14 | g.23423634T= | CA2123453280 | MYH7 | c.3012A= (p.Gln1004=) n.3118A= | |
| 14 | g.23423635T>A | CA389045906 | MYH7 | c.3011A>T (p.Gln1004Leu) n.3117A>T | |
| 14 | g.23423635T>C | CA389045908 | MYH7 | c.3011A>G (p.Gln1004Arg) n.3117A>G | |
| 14 | g.23423635T>G | CA389045909 | MYH7 | c.3011A>C (p.Gln1004Pro) n.3117A>C | |
| 14 | g.23423636G>A | CA389045911 | MYH7 | c.3010C>T (p.Gln1004Ter) n.3116C>T | |
| 14 | g.23423636G>C | CA013300 | MYH7 | c.3010C>G (p.Gln1004Glu) n.3116C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423636G= | CA2123453284 | MYH7 | c.3010C= (p.Gln1004=) n.3116C= | |
| 14 | g.23423636G>T | CA389045913 | MYH7 | c.3010C>A (p.Gln1004Lys) n.3116C>A | |
| 14 | g.23423637G>A | CA485622614 | MYH7 | c.3009C>T (p.His1003=) n.3115C>T | |
| 14 | g.23423637G>C | CA389045915 | MYH7 | c.3009C>G (p.His1003Gln) n.3115C>G | |
| 14 | g.23423637G>T | CA389045914 | MYH7 | c.3009C>A (p.His1003Gln) n.3115C>A | |
| 14 | g.23423638T>A | CA389045917 | MYH7 | c.3008A>T (p.His1003Leu) n.3114A>T | |
| 14 | g.23423638T>C | CA389045919 | MYH7 | c.3008A>G (p.His1003Arg) n.3114A>G | |
| 14 | g.23423638T>G | CA389045921 | MYH7 | c.3008A>C (p.His1003Pro) n.3114A>C | |
| 14 | g.23423639G>A | CA389045922 | MYH7 | c.3007C>T (p.His1003Tyr) n.3113C>T | ClinVar |
| 14 | g.23423639G>C | CA389045923 | MYH7 | c.3007C>G (p.His1003Asp) n.3113C>G | |
| 14 | g.23423639G>T | CA389045925 | MYH7 | c.3007C>A (p.His1003Asn) n.3113C>A | |
| 14 | g.23423640G>A | CA16606535 | MYH7 | c.3006C>T (p.Ala1002=) n.3112C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23423640G>C | CA485622615 | MYH7 | c.3006C>G (p.Ala1002=) n.3112C>G | |
| 14 | g.23423640G= | CA2123453288 | MYH7 | c.3006C= (p.Ala1002=) n.3112C= | |
| 14 | g.23423640G>T | CA485622616 | MYH7 | c.3006C>A (p.Ala1002=) n.3112C>A | |
| 14 | g.23423641G>A | CA035198 | MYH7 | c.3005C>T (p.Ala1002Val) n.3111C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423641G>C | CA389045928 | MYH7 | c.3005C>G (p.Ala1002Gly) n.3111C>G | |
| 14 | g.23423641G= | CA2123453294 | MYH7 | c.3005C= (p.Ala1002=) n.3111C= | |
| 14 | g.23423641G>T | CA389045929 | MYH7 | c.3005C>A (p.Ala1002Asp) n.3111C>A | |
| 14 | g.23423642C>A | CA389045930 | MYH7 | c.3004G>T (p.Ala1002Ser) n.3110G>T | gnomAD v4 |
| 14 | g.23423642C>G | CA389045931 | MYH7 | c.3004G>C (p.Ala1002Pro) n.3110G>C | |
| 14 | g.23423642C>T | CA389045933 | MYH7 | c.3004G>A (p.Ala1002Thr) n.3110G>A | COSMIC |
| 14 | g.23423643C>A | CA389046260 | MYH7 | c.3003G>T (p.Glu1001Asp) n.3109G>T | |
| 14 | g.23423643C= | CA2123453298 | MYH7 | c.3003G= (p.Glu1001=) n.3109G= | |
| 14 | g.23423643C>G | CA389046262 | MYH7 | c.3003G>C (p.Glu1001Asp) n.3109G>C | |
| 14 | g.23423643C>T | CA257818736 | MYH7 | c.3003G>A (p.Glu1001=) n.3109G>A | dbSNP gnomAD v4 |
| 14 | g.23423644T>A | CA389046266 | MYH7 | c.3002A>T (p.Glu1001Val) n.3108A>T | |
| 14 | g.23423644T>C | CA389046264 | MYH7 | c.3002A>G (p.Glu1001Gly) n.3108A>G | |
| 14 | g.23423644T>G | CA389046265 | MYH7 | c.3002A>C (p.Glu1001Ala) n.3108A>C | |
| 14 | g.23423645C>A | CA389046268 | MYH7 | c.3001G>T (p.Glu1001Ter) n.3107G>T | |
| 14 | g.23423645C>G | CA389046269 | MYH7 | c.3001G>C (p.Glu1001Gln) n.3107G>C | |
| 14 | g.23423645C>T | CA389046271 | MYH7 | c.3001G>A (p.Glu1001Lys) n.3107G>A | gnomAD v4 |
| 14 | g.23423646T>A | CA389046273 | MYH7 | c.3000A>T (p.Gln1000His) n.3106A>T | |
| 14 | g.23423646T>C | CA485766575 | MYH7 | c.3000A>G (p.Gln1000=) n.3106A>G | |
| 14 | g.23423646T>G | CA389046274 | MYH7 | c.3000A>C (p.Gln1000His) n.3106A>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423646T= | CA2123453302 | MYH7 | c.3000A= (p.Gln1000=) n.3106A= | |
| 14 | g.23423647T>A | CA389046276 | MYH7 | c.2999A>T (p.Gln1000Leu) n.3105A>T | |
| 14 | g.23423647T>C | CA389046278 | MYH7 | c.2999A>G (p.Gln1000Arg) n.3105A>G | |
| 14 | g.23423647T>G | CA389046280 | MYH7 | c.2999A>C (p.Gln1000Pro) n.3105A>C | |
| 14 | g.23423648G>A | CA389046281 | MYH7 | c.2998C>T (p.Gln1000Ter) n.3104C>T | ClinVar |
| 14 | g.23423648G>C | CA389046282 | MYH7 | c.2998C>G (p.Gln1000Glu) n.3104C>G | |
| 14 | g.23423648G>T | CA389046283 | MYH7 | c.2998C>A (p.Gln1000Lys) n.3104C>A | |
| 14 | g.23423649del | CA2573053878 | MYH7 | c.2997del (p.Gln1000LysfsTer21) n.3103del | ClinVar dbSNP |
| 14 | g.23423649C>A | CA485766576 | MYH7 | c.2997G>T (p.Leu999=) n.3103G>T | dbSNP COSMIC |
| 14 | g.23423649C= | CA2123453303 | MYH7 | c.2997G= (p.Leu999=) n.3103G= | |
| 14 | g.23423649C>G | CA485766577 | MYH7 | c.2997G>C (p.Leu999=) n.3103G>C | gnomAD v3 gnomAD v4 |
| 14 | g.23423649C>T | CA485766578 | MYH7 | c.2997G>A (p.Leu999=) n.3103G>A | |
| 14 | g.23423650A>C | CA389046288 | MYH7 | c.2996T>G (p.Leu999Arg) n.3102T>G | |
| 14 | g.23423650A>G | CA389046285 | MYH7 | c.2996T>C (p.Leu999Pro) n.3102T>C | gnomAD v4 |
| 14 | g.23423650A>T | CA389046286 | MYH7 | c.2996T>A (p.Leu999Gln) n.3102T>A | |
| 14 | g.23423651G>A | CA485766579 | MYH7 | c.2995C>T (p.Leu999=) n.3101C>T | |
| 14 | g.23423651G>C | CA389046289 | MYH7 | c.2995C>G (p.Leu999Val) n.3101C>G | |
| 14 | g.23423651G>T | CA389046290 | MYH7 | c.2995C>A (p.Leu999Met) n.3101C>A | |
| 14 | g.23423652A>C | CA485766580 | MYH7 | c.2994T>G (p.Ala998=) n.3100T>G | |
| 14 | g.23423652A>G | CA485766581 | MYH7 | c.2994T>C (p.Ala998=) n.3100T>C | |
| 14 | g.23423652A>T | CA485766582 | MYH7 | c.2994T>A (p.Ala998=) n.3100T>A | |
| 14 | g.23423653G>A | CA389046293 | MYH7 | c.2993C>T (p.Ala998Val) n.3099C>T | gnomAD v4 |
| 14 | g.23423653G>C | CA389046294 | MYH7 | c.2993C>G (p.Ala998Gly) n.3099C>G | |
| 14 | g.23423653G>T | CA389046295 | MYH7 | c.2993C>A (p.Ala998Asp) n.3099C>A | |
| 14 | g.23423654C>A | CA389046296 | MYH7 | c.2992G>T (p.Ala998Ser) n.3098G>T | dbSNP |
| 14 | g.23423654C= | CA2123453306 | MYH7 | c.2992G= (p.Ala998=) n.3098G= | |
| 14 | g.23423654C>G | CA389046298 | MYH7 | c.2992G>C (p.Ala998Pro) n.3098G>C | ClinVar dbSNP |
| 14 | g.23423654C>T | CA389046299 | MYH7 | c.2992G>A (p.Ala998Thr) n.3098G>A | |
| 14 | g.23423655T>A | CA389046301 | MYH7 | c.2991A>T (p.Lys997Asn) n.3097A>T | |
| 14 | g.23423655T>C | CA035167 | MYH7 | c.2991A>G (p.Lys997=) n.3097A>G | dbSNP ExAC |
| 14 | g.23423655T>G | CA389046303 | MYH7 | c.2991A>C (p.Lys997Asn) n.3097A>C | |
| 14 | g.23423655T= | CA2123453310 | MYH7 | c.2991A= (p.Lys997=) n.3097A= | |
| 14 | g.23423656T>A | CA389046307 | MYH7 | c.2990A>T (p.Lys997Ile) n.3096A>T | |
| 14 | g.23423656T>C | CA389046306 | MYH7 | c.2990A>G (p.Lys997Arg) n.3096A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423656T>G | CA389046305 | MYH7 | c.2990A>C (p.Lys997Thr) n.3096A>C | gnomAD v4 |
| 14 | g.23423656T= | CA2123453312 | MYH7 | c.2990A= (p.Lys997=) n.3096A= | |
| 14 | g.23423657T>A | CA389046309 | MYH7 | c.2989A>T (p.Lys997Ter) n.3095A>T | |
| 14 | g.23423657T>C | CA389046311 | MYH7 | c.2989A>G (p.Lys997Glu) n.3095A>G | |
| 14 | g.23423657T>G | CA389046312 | MYH7 | c.2989A>C (p.Lys997Gln) n.3095A>C | |
| 14 | g.23423658C>A | CA389046314 | MYH7 | c.2988G>T (p.Lys996Asn) n.3094G>T | gnomAD v4 |
| 14 | g.23423658C= | CA2123453318 | MYH7 | c.2988G= (p.Lys996=) n.3094G= | |
| 14 | g.23423658C>G | CA389046315 | MYH7 | c.2988G>C (p.Lys996Asn) n.3094G>C | |
| 14 | g.23423658C>T | CA485766583 | MYH7 | c.2988G>A (p.Lys996=) n.3094G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423659T>A | CA389046317 | MYH7 | c.2987A>T (p.Lys996Met) n.3093A>T | |
| 14 | g.23423659T>C | CA389046319 | MYH7 | c.2987A>G (p.Lys996Arg) n.3093A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423659T>G | CA389046320 | MYH7 | c.2987A>C (p.Lys996Thr) n.3093A>C | |
| 14 | g.23423659T= | CA2123453321 | MYH7 | c.2987A= (p.Lys996=) n.3093A= | |
| 14 | g.23423660T>A | CA389046321 | MYH7 | c.2986A>T (p.Lys996Ter) n.3092A>T | |
| 14 | g.23423660T>C | CA389046323 | MYH7 | c.2986A>G (p.Lys996Glu) n.3092A>G | |
| 14 | g.23423660T>G | CA389046325 | MYH7 | c.2986A>C (p.Lys996Gln) n.3092A>C | |
| 14 | g.23423661C>A | CA389046326 | MYH7 | c.2985G>T (p.Glu995Asp) n.3091G>T | |
| 14 | g.23423661C>G | CA389046328 | MYH7 | c.2985G>C (p.Glu995Asp) n.3091G>C | |
| 14 | g.23423661C>T | CA485766584 | MYH7 | c.2985G>A (p.Glu995=) n.3091G>A | COSMIC |
| 14 | g.23423662T>A | CA389046333 | MYH7 | c.2984A>T (p.Glu995Val) n.3090A>T | |
| 14 | g.23423662T>C | CA389046329 | MYH7 | c.2984A>G (p.Glu995Gly) n.3090A>G | |
| 14 | g.23423662T>G | CA389046331 | MYH7 | c.2984A>C (p.Glu995Ala) n.3090A>C | |
| 14 | g.23423663C>A | CA389046334 | MYH7 | c.2983G>T (p.Glu995Ter) n.3089G>T | |
| 14 | g.23423663C= | CA2123453324 | MYH7 | c.2983G= (p.Glu995=) n.3089G= | |
| 14 | g.23423663C>G | CA389046335 | MYH7 | c.2983G>C (p.Glu995Gln) n.3089G>C | |
| 14 | g.23423663C>T | CA389046337 | MYH7 | c.2983G>A (p.Glu995Lys) n.3089G>A | dbSNP gnomAD v4 COSMIC |
| 14 | g.23423664C>A | CA389046340 | MYH7 | c.2982G>T (p.Lys994Asn) n.3088G>T | |
| 14 | g.23423664C= | CA2123453325 | MYH7 | c.2982G= (p.Lys994=) n.3088G= | |
| 14 | g.23423664C>G | CA035120 | MYH7 | c.2982G>C (p.Lys994Asn) n.3088G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423664C>T | CA485766585 | MYH7 | c.2982G>A (p.Lys994=) n.3088G>A | |
| 14 | g.23423665T>A | CA389046341 | MYH7 | c.2981A>T (p.Lys994Met) n.3087A>T | |
| 14 | g.23423665T>C | CA389046342 | MYH7 | c.2981A>G (p.Lys994Arg) n.3087A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423665T>G | CA389046344 | MYH7 | c.2981A>C (p.Lys994Thr) n.3087A>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423665T= | CA2123453331 | MYH7 | c.2981A= (p.Lys994=) n.3087A= | |
| 14 | g.23423666T>A | CA389046346 | MYH7 | c.2980A>T (p.Lys994Ter) n.3086A>T | |
| 14 | g.23423666T>C | CA389046348 | MYH7 | c.2980A>G (p.Lys994Glu) n.3086A>G | |
| 14 | g.23423666T>G | CA389046350 | MYH7 | c.2980A>C (p.Lys994Gln) n.3086A>C | |
| 14 | g.23423667G>A | CA013269 | MYH7 | c.2979C>T (p.Thr993=) n.3085C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423667G>C | CA485766587 | MYH7 | c.2979C>G (p.Thr993=) n.3085C>G | gnomAD v4 |
| 14 | g.23423667G= | CA2123453336 | MYH7 | c.2979C= (p.Thr993=) n.3085C= | |
| 14 | g.23423667G>T | CA485766586 | MYH7 | c.2979C>A (p.Thr993=) n.3085C>A | |
| 14 | g.23423668G>A | CA389046354 | MYH7 | c.2978C>T (p.Thr993Ile) n.3084C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423668G>C | CA389046355 | MYH7 | c.2978C>G (p.Thr993Ser) n.3084C>G | |
| 14 | g.23423668G= | CA2123453346 | MYH7 | c.2978C= (p.Thr993=) n.3084C= | |
| 14 | g.23423668G>T | CA389046351 | MYH7 | c.2978C>A (p.Thr993Asn) n.3084C>A | ClinVar |
| 14 | g.23423669T>A | CA389046360 | MYH7 | c.2977A>T (p.Thr993Ser) n.3083A>T | |
| 14 | g.23423669T>C | CA389046357 | MYH7 | c.2977A>G (p.Thr993Ala) n.3083A>G | |
| 14 | g.23423669T>G | CA389046358 | MYH7 | c.2977A>C (p.Thr993Pro) n.3083A>C | |
| 14 | g.23423670C>A | CA485766589 | MYH7 | c.2976G>T (p.Leu992=) n.3082G>T | COSMIC |
| 14 | g.23423670C= | CA2123453357 | MYH7 | c.2976G= (p.Leu992=) n.3082G= | |
| 14 | g.23423670C>G | CA485766588 | MYH7 | c.2976G>C (p.Leu992=) n.3082G>C | |
| 14 | g.23423670C>T | CA035059 | MYH7 | c.2976G>A (p.Leu992=) n.3082G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423671A>C | CA389046363 | MYH7 | c.2975T>G (p.Leu992Arg) n.3081T>G | |
| 14 | g.23423671A>G | CA389046364 | MYH7 | c.2975T>C (p.Leu992Pro) n.3081T>C | gnomAD v4 |
| 14 | g.23423671A>T | CA389046365 | MYH7 | c.2975T>A (p.Leu992Gln) n.3081T>A | |
| 14 | g.23423672G>A | CA485766590 | MYH7 | c.2974C>T (p.Leu992=) n.3080C>T | |
| 14 | g.23423672G>C | CA389046367 | MYH7 | c.2974C>G (p.Leu992Val) n.3080C>G | |
| 14 | g.23423672G= | CA2123453366 | MYH7 | c.2974C= (p.Leu992=) n.3080C= | |
| 14 | g.23423672G>T | CA013260 | MYH7 | c.2974C>A (p.Leu992Met) n.3080C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423673C>A | CA013250 | MYH7 | c.2973G>T (p.Lys991Asn) n.3079G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423673C= | CA2123453376 | MYH7 | c.2973G= (p.Lys991=) n.3079G= | |
| 14 | g.23423673C>G | CA389046370 | MYH7 | c.2973G>C (p.Lys991Asn) n.3079G>C | |
| 14 | g.23423673C>T | CA485766591 | MYH7 | c.2973G>A (p.Lys991=) n.3079G>A | COSMIC |
| 14 | g.23423674T>A | CA389046371 | MYH7 | c.2972A>T (p.Lys991Met) n.3078A>T | |
| 14 | g.23423674T>C | CA035021 | MYH7 | c.2972A>G (p.Lys991Arg) n.3078A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423674T>G | CA389046372 | MYH7 | c.2972A>C (p.Lys991Thr) n.3078A>C | |
| 14 | g.23423674T= | CA2123453379 | MYH7 | c.2972A= (p.Lys991=) n.3078A= | |
| 14 | g.23423675T>A | CA389046375 | MYH7 | c.2971A>T (p.Lys991Ter) n.3077A>T | |
| 14 | g.23423675T>C | CA389046377 | MYH7 | c.2971A>G (p.Lys991Glu) n.3077A>G | |
| 14 | g.23423675T>G | CA389046374 | MYH7 | c.2971A>C (p.Lys991Gln) n.3077A>C | gnomAD v4 |
| 14 | g.23423676G>A | CA485766592 | MYH7 | c.2970C>T (p.Ala990=) n.3076C>T | gnomAD v4 |
| 14 | g.23423676G>C | CA485766593 | MYH7 | c.2970C>G (p.Ala990=) n.3076C>G | |
| 14 | g.23423676G>T | CA485766594 | MYH7 | c.2970C>A (p.Ala990=) n.3076C>A | |
| 14 | g.23423677G>A | CA389046378 | MYH7 | c.2969C>T (p.Ala990Val) n.3075C>T | dbSNP |
| 14 | g.23423677G>C | CA389046379 | MYH7 | c.2969C>G (p.Ala990Gly) n.3075C>G | |
| 14 | g.23423677G= | CA2123453381 | MYH7 | c.2969C= (p.Ala990=) n.3075C= | |
| 14 | g.23423677G>T | CA389046380 | MYH7 | c.2969C>A (p.Ala990Asp) n.3075C>A | |
| 14 | g.23423678C>A | CA389046382 | MYH7 | c.2968G>T (p.Ala990Ser) n.3074G>T | gnomAD v4 |
| 14 | g.23423678C= | CA2123453385 | MYH7 | c.2968G= (p.Ala990=) n.3074G= | |
| 14 | g.23423678C>G | CA389046384 | MYH7 | c.2968G>C (p.Ala990Pro) n.3074G>C | |
| 14 | g.23423678C>T | CA035008 | MYH7 | c.2968G>A (p.Ala990Thr) n.3074G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423678_23423679delinsGG | CA2697553843 | MYH7 | c.2967_2968delinsCC (p.Ala990Pro) n.3073_3074delinsCC | ClinVar |
| 14 | g.23423678_23423679delinsTG | CA915946996 | MYH7 | c.2967_2968delinsCA (p.Ala990Thr) n.3073_3074delinsCA | ClinVar |
| 14 | g.23423679A= | CA2123453391 | MYH7 | c.2967T= (p.Ile989=) n.3073T= | |
| 14 | g.23423679A>C | CA389046386 | MYH7 | c.2967T>G (p.Ile989Met) n.3073T>G | |
| 14 | g.23423679A>G | CA013242 | MYH7 | c.2967T>C (p.Ile989=) n.3073T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423679A>T | CA485766595 | MYH7 | c.2967T>A (p.Ile989=) n.3073T>A | |
| 14 | g.23423680A>C | CA389046387 | MYH7 | c.2966T>G (p.Ile989Ser) n.3072T>G | |
| 14 | g.23423680A>G | CA389046389 | MYH7 | c.2966T>C (p.Ile989Thr) n.3072T>C | |
| 14 | g.23423680A>T | CA389046390 | MYH7 | c.2966T>A (p.Ile989Asn) n.3072T>A | |
| 14 | g.23423681T>A | CA389046391 | MYH7 | c.2965A>T (p.Ile989Phe) n.3071A>T | |
| 14 | g.23423681T>C | CA389046392 | MYH7 | c.2965A>G (p.Ile989Val) n.3071A>G | |
| 14 | g.23423681T>G | CA389046394 | MYH7 | c.2965A>C (p.Ile989Leu) n.3071A>C | |
| 14 | g.23423682G>A | CA257818753 | MYH7 | c.2964C>T (p.Ile988=) n.3070C>T | dbSNP |
| 14 | g.23423682G>C | CA389046396 | MYH7 | c.2964C>G (p.Ile988Met) n.3070C>G | |
| 14 | g.23423682G= | CA2123453396 | MYH7 | c.2964C= (p.Ile988=) n.3070C= | |
| 14 | g.23423682G>T | CA485766596 | MYH7 | c.2964C>A (p.Ile988=) n.3070C>A | |
| 14 | g.23423683A= | CA2123453401 | MYH7 | c.2963T= (p.Ile988=) n.3069T= | |
| 14 | g.23423683A>C | CA16619848 | MYH7 | c.2963T>G (p.Ile988Ser) n.3069T>G | ClinVar dbSNP |
| 14 | g.23423683A>G | CA389046400 | MYH7 | c.2963T>C (p.Ile988Thr) n.3069T>C | |
| 14 | g.23423683A>T | CA389046398 | MYH7 | c.2963T>A (p.Ile988Asn) n.3069T>A | |
| 14 | g.23423684T>A | CA389046402 | MYH7 | c.2962A>T (p.Ile988Phe) n.3068A>T | |
| 14 | g.23423684T>C | CA389046404 | MYH7 | c.2962A>G (p.Ile988Val) n.3068A>G | gnomAD v4 |
| 14 | g.23423684T>G | CA389046405 | MYH7 | c.2962A>C (p.Ile988Leu) n.3068A>C | |
| 14 | g.23423685C>A | CA389046407 | MYH7 | c.2961G>T (p.Glu987Asp) n.3067G>T | |
| 14 | g.23423685C= | CA2123453403 | MYH7 | c.2961G= (p.Glu987=) n.3067G= | |
| 14 | g.23423685C>G | CA389046408 | MYH7 | c.2961G>C (p.Glu987Asp) n.3067G>C | |
| 14 | g.23423685C>T | CA485766597 | MYH7 | c.2961G>A (p.Glu987=) n.3067G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23423686T>A | CA389046410 | MYH7 | c.2960A>T (p.Glu987Val) n.3066A>T | |
| 14 | g.23423686T>C | CA389046411 | MYH7 | c.2960A>G (p.Glu987Gly) n.3066A>G | |
| 14 | g.23423686T>G | CA389046412 | MYH7 | c.2960A>C (p.Glu987Ala) n.3066A>C | |
| 14 | g.23423687C>A | CA389046413 | MYH7 | c.2959G>T (p.Glu987Ter) n.3065G>T | |
| 14 | g.23423687C= | CA2123453416 | MYH7 | c.2959G= (p.Glu987=) n.3065G= | |
| 14 | g.23423687C>G | CA389046415 | MYH7 | c.2959G>C (p.Glu987Gln) n.3065G>C | |
| 14 | g.23423687C>T | CA013234 | MYH7 | c.2959G>A (p.Glu987Lys) n.3065G>A | ClinVar dbSNP |
| 14 | g.23423688A= | CA2123453420 | MYH7 | c.2958T= (p.Asp986=) n.3064T= | |
| 14 | g.23423688A>C | CA389046419 | MYH7 | c.2958T>G (p.Asp986Glu) n.3064T>G | dbSNP gnomAD v4 |
| 14 | g.23423688A>G | CA034978 | MYH7 | c.2958T>C (p.Asp986=) n.3064T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23423688A>T | CA389046418 | MYH7 | c.2958T>A (p.Asp986Glu) n.3064T>A | |
| 14 | g.23423689T>A | CA389046421 | MYH7 | c.2957A>T (p.Asp986Val) n.3063A>T | |
| 14 | g.23423689T>C | CA389046423 | MYH7 | c.2957A>G (p.Asp986Gly) n.3063A>G | |
| 14 | g.23423689T>G | CA389046424 | MYH7 | c.2957A>C (p.Asp986Ala) n.3063A>C | |
| 14 | g.23423690C>A | CA389046426 | MYH7 | c.2956G>T (p.Asp986Tyr) n.3062G>T | |
| 14 | g.23423690C>G | CA389046427 | MYH7 | c.2956G>C (p.Asp986His) n.3062G>C | ClinVar gnomAD v4 |
| 14 | g.23423690C>T | CA389046429 | MYH7 | c.2956G>A (p.Asp986Asn) n.3062G>A | COSMIC |
| 14 | g.23423691C>A | CA485766598 | MYH7 | c.2955G>T (p.Leu985=) n.3061G>T | |
| 14 | g.23423691C= | CA2123453434 | MYH7 | c.2955G= (p.Leu985=) n.3061G= | |
| 14 | g.23423691C>G | CA485766599 | MYH7 | c.2955G>C (p.Leu985=) n.3061G>C | ClinVar |
| 14 | g.23423691C>T | CA10643996 | MYH7 | c.2955G>A (p.Leu985=) n.3061G>A | ClinVar dbSNP |
| 14 | g.23423692A>C | CA389046431 | MYH7 | c.2954T>G (p.Leu985Arg) n.3060T>G | |
| 14 | g.23423692A>G | CA389046432 | MYH7 | c.2954T>C (p.Leu985Pro) n.3060T>C | |
| 14 | g.23423692A>T | CA389046433 | MYH7 | c.2954T>A (p.Leu985Gln) n.3060T>A | |
| 14 | g.23423693G>A | CA485766600 | MYH7 | c.2953C>T (p.Leu985=) n.3059C>T | |
| 14 | g.23423693G>C | CA389046435 | MYH7 | c.2953C>G (p.Leu985Val) n.3059C>G | |
| 14 | g.23423693G>T | CA389046437 | MYH7 | c.2953C>A (p.Leu985Met) n.3059C>A | |
| 14 | g.23423694C>A | CA485766601 | MYH7 | c.2952G>T (p.Gly984=) n.3058G>T | |
| 14 | g.23423694C>G | CA485766602 | MYH7 | c.2952G>C (p.Gly984=) n.3058G>C | |
| 14 | g.23423694C>T | CA485766603 | MYH7 | c.2952G>A (p.Gly984=) n.3058G>A | |
| 14 | g.23423696del | CA2800863457 | MYH7 | c.2952del (p.Leu985TrpfsTer8) n.3058del | |
| 14 | g.23423695C>A | CA389046438 | MYH7 | c.2951G>T (p.Gly984Val) n.3057G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23423695C= | CA2123453441 | MYH7 | c.2951G= (p.Gly984=) n.3057G= | |
| 14 | g.23423695C>G | CA389046441 | MYH7 | c.2951G>C (p.Gly984Ala) n.3057G>C | |
| 14 | g.23423695C>T | CA389046440 | MYH7 | c.2951G>A (p.Gly984Glu) n.3057G>A | gnomAD v4 |
| 14 | g.23423696C>A | CA389046442 | MYH7 | c.2950G>T (p.Gly984Trp) n.3056G>T | |
| 14 | g.23423696C>G | CA389046445 | MYH7 | c.2950G>C (p.Gly984Arg) n.3056G>C | |
| 14 | g.23423696C>T | CA389046444 | MYH7 | c.2950G>A (p.Gly984Arg) n.3056G>A | ClinVar gnomAD v4 |
| 14 | g.23423697A= | CA2123453446 | MYH7 | c.2949T= (p.Ala983=) n.3055T= | |
| 14 | g.23423697A>C | CA485766604 | MYH7 | c.2949T>G (p.Ala983=) n.3055T>G | |
| 14 | g.23423697A>G | CA485766605 | MYH7 | c.2949T>C (p.Ala983=) n.3055T>C | dbSNP |
| 14 | g.23423697A>T | CA485766606 | MYH7 | c.2949T>A (p.Ala983=) n.3055T>A | |
| 14 | g.23423698G>A | CA389046447 | MYH7 | c.2948C>T (p.Ala983Val) n.3054C>T | |
| 14 | g.23423698G>C | CA389046448 | MYH7 | c.2948C>G (p.Ala983Gly) n.3054C>G | |
| 14 | g.23423698G>T | CA389046450 | MYH7 | c.2948C>A (p.Ala983Asp) n.3054C>A | |
| 14 | g.23423699C>A | CA389046451 | MYH7 | c.2947G>T (p.Ala983Ser) n.3053G>T | |
| 14 | g.23423699C>G | CA389046453 | MYH7 | c.2947G>C (p.Ala983Pro) n.3053G>C | gnomAD v4 |
| 14 | g.23423699C>T | CA389046455 | MYH7 | c.2947G>A (p.Ala983Thr) n.3053G>A | |
| 14 | g.23423700C>A | CA389046456 | MYH7 | c.2946G>T (p.Met982Ile) n.3052G>T | |
| 14 | g.23423700C= | CA2123453451 | MYH7 | c.2946G= (p.Met982=) n.3052G= | |
| 14 | g.23423700C>G | CA389046458 | MYH7 | c.2946G>C (p.Met982Ile) n.3052G>C | |
| 14 | g.23423700C>T | CA389046459 | MYH7 | c.2946G>A (p.Met982Ile) n.3052G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23423701A= | CA2123453455 | MYH7 | c.2945T= (p.Met982=) n.3051T= | |
| 14 | g.23423701A>C | CA389046461 | MYH7 | c.2945T>G (p.Met982Arg) n.3051T>G | |
| 14 | g.23423701A>G | CA013227 | MYH7 | c.2945T>C (p.Met982Thr) n.3051T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23423701A>T | CA389046463 | MYH7 | c.2945T>A (p.Met982Lys) n.3051T>A | ClinVar |
| 14 | g.23423702T>A | CA389046465 | MYH7 | c.2944A>T (p.Met982Leu) n.3050A>T | |
| 14 | g.23423702T>C | CA389046467 | MYH7 | c.2944A>G (p.Met982Val) n.3050A>G | |
| 14 | g.23423702T>G | CA389046466 | MYH7 | c.2944A>C (p.Met982Leu) n.3050A>C |