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.23424748A= | CA2123455613 | MYH7 | c.2679+21T= (n.2679+21T=) n.2785+21T= | |
| 14 | g.23424748A>G | CA704292721 | MYH7 | c.2679+21T>C (n.2679+21T>C) n.2785+21T>C | dbSNP |
| 14 | g.23424749C= | CA2123455618 | MYH7 | c.2679+20G= (n.2679+20G=) n.2785+20G= | |
| 14 | g.23424749C>T | CA033704 | MYH7 | c.2679+20G>A (n.2679+20G>A) n.2785+20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424750A>C | CA2624238729 | MYH7 | c.2679+19T>G (n.2679+19T>G) n.2785+19T>G | gnomAD v4 |
| 14 | g.23424750A>G | CA2575486495 | MYH7 | c.2679+19T>C (n.2679+19T>C) n.2785+19T>C | |
| 14 | g.23424751G= | CA2123455621 | MYH7 | c.2679+18C= (n.2679+18C=) n.2785+18C= | |
| 14 | g.23424751G>T | CA2123455620 | MYH7 | c.2679+18C>A (n.2679+18C>A) n.2785+18C>A | dbSNP gnomAD v4 |
| 14 | g.23424752T>C | CA033696 | MYH7 | c.2679+17A>G (n.2679+17A>G) n.2785+17A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424752T= | CA2123455622 | MYH7 | c.2679+17A= (n.2679+17A=) n.2785+17A= | |
| 14 | g.23424753A>T | CA2575486499 | MYH7 | c.2679+16T>A (n.2679+16T>A) n.2785+16T>A | |
| 14 | g.23424754G>A | CA2624238733 | MYH7 | c.2679+15C>T (n.2679+15C>T) n.2785+15C>T | gnomAD v4 |
| 14 | g.23424754G>C | CA2800863550 | MYH7 | c.2679+15C>G (n.2679+15C>G) n.2785+15C>G | |
| 14 | g.23424754G= | CA2123455625 | MYH7 | c.2679+15C= (n.2679+15C=) n.2785+15C= | |
| 14 | g.23424754G>T | CA257819303 | MYH7 | c.2679+15C>A (n.2679+15C>A) n.2785+15C>A | dbSNP |
| 14 | g.23424755C>T | CA656016748 | MYH7 | c.2679+14G>A (n.2679+14G>A) n.2785+14G>A | gnomAD v4 COSMIC |
| 14 | g.23424757C>T | CA2697553846 | MYH7 | c.2679+12G>A (n.2679+12G>A) n.2785+12G>A | ClinVar |
| 14 | g.23424758A>G | CA2580087904 | MYH7 | c.2679+11T>C (n.2679+11T>C) n.2785+11T>C | ClinVar |
| 14 | g.23424760G>A | CA033819 | MYH7 | c.2679+9C>T (n.2679+9C>T) n.2785+9C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424760G= | CA2123455627 | MYH7 | c.2679+9C= (n.2679+9C=) n.2785+9C= | |
| 14 | g.23424762G>A | CA012819 | MYH7 | c.2679+7C>T (n.2679+7C>T) n.2785+7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424762G= | CA2123455637 | MYH7 | c.2679+7C= (n.2679+7C=) n.2785+7C= | |
| 14 | g.23424762G>T | CA645581329 | MYH7 | c.2679+7C>A (n.2679+7C>A) n.2785+7C>A | COSMIC |
| 14 | g.23424763C>G | CA2624238744 | MYH7 | c.2679+6G>C (n.2679+6G>C) n.2785+6G>C | gnomAD v4 |
| 14 | g.23424763C>T | CA2697553847 | MYH7 | c.2679+6G>A (n.2679+6G>A) n.2785+6G>A | ClinVar |
| 14 | g.23424766C= | CA2123455644 | MYH7 | c.2679+3G= (n.2679+3G=) n.2785+3G= | |
| 14 | g.23424766C>T | CA257819306 | MYH7 | c.2679+3G>A (n.2679+3G>A) n.2785+3G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424767A= | CA2123455648 | MYH7 | c.2679+2T= (n.2679+2T=) n.2785+2T= | |
| 14 | g.23424767A>C | CA389047781 | MYH7 | c.2679+2T>G (n.2679+2T>G) n.2785+2T>G | dbSNP |
| 14 | g.23424767A>G | CA389047783 | MYH7 | c.2679+2T>C (n.2679+2T>C) n.2785+2T>C | |
| 14 | g.23424767A>T | CA389047785 | MYH7 | c.2679+2T>A (n.2679+2T>A) n.2785+2T>A | |
| 14 | g.23424768C>A | CA389047786 | MYH7 | c.2679+1G>T (n.2679+1G>T) n.2785+1G>T | |
| 14 | g.23424768C>G | CA389047788 | MYH7 | c.2679+1G>C (n.2679+1G>C) n.2785+1G>C | |
| 14 | g.23424768C>T | CA389047789 | MYH7 | c.2679+1G>A (n.2679+1G>A) n.2785+1G>A | |
| 14 | g.23424769C>A | CA485766878 | MYH7 | c.2679G>T (p.Ala893=) n.2785G>T | |
| 14 | g.23424769C= | CA2123455651 | MYH7 | c.2679G= (p.Ala893=) n.2785G= | |
| 14 | g.23424769C>G | CA485766879 | MYH7 | c.2679G>C (p.Ala893=) n.2785G>C | |
| 14 | g.23424769C>T | CA033836 | MYH7 | c.2679G>A (p.Ala893=) n.2785G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424770G>A | CA012811 | MYH7 | c.2678C>T (p.Ala893Val) n.2784C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23424770G>C | CA389047792 | MYH7 | c.2678C>G (p.Ala893Gly) n.2784C>G | |
| 14 | g.23424770G= | CA2123455671 | MYH7 | c.2678C= (p.Ala893=) n.2784C= | |
| 14 | g.23424770G>T | CA012807 | MYH7 | c.2678C>A (p.Ala893Glu) n.2784C>A | ClinVar dbSNP |
| 14 | g.23424771C>A | CA389047795 | MYH7 | c.2677G>T (p.Ala893Ser) n.2783G>T | ClinVar dbSNP |
| 14 | g.23424771C= | CA2123455681 | MYH7 | c.2677G= (p.Ala893=) n.2783G= | |
| 14 | g.23424771C>G | CA389047797 | MYH7 | c.2677G>C (p.Ala893Pro) n.2783G>C | |
| 14 | g.23424771C>T | CA033674 | MYH7 | c.2677G>A (p.Ala893Thr) n.2783G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424772C>A | CA389047799 | MYH7 | c.2676G>T (p.Gln892His) n.2782G>T | |
| 14 | g.23424772C>G | CA389047800 | MYH7 | c.2676G>C (p.Gln892His) n.2782G>C | |
| 14 | g.23424772C>T | CA485766887 | MYH7 | c.2676G>A (p.Gln892=) n.2782G>A | ClinVar dbSNP |
| 14 | g.23424773T>A | CA389047802 | MYH7 | c.2675A>T (p.Gln892Leu) n.2781A>T | |
| 14 | g.23424773T>C | CA389047804 | MYH7 | c.2675A>G (p.Gln892Arg) n.2781A>G | |
| 14 | g.23424773T>G | CA389047805 | MYH7 | c.2675A>C (p.Gln892Pro) n.2781A>C | |
| 14 | g.23424774G>A | CA389047806 | MYH7 | c.2674C>T (p.Gln892Ter) n.2780C>T | |
| 14 | g.23424774G>C | CA389047808 | MYH7 | c.2674C>G (p.Gln892Glu) n.2780C>G | |
| 14 | g.23424774G= | CA2123455691 | MYH7 | c.2674C= (p.Gln892=) n.2780C= | |
| 14 | g.23424774G>T | CA389047810 | MYH7 | c.2674C>A (p.Gln892Lys) n.2780C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424775C>A | CA485766890 | MYH7 | c.2673G>T (p.Val891=) n.2779G>T | gnomAD v4 |
| 14 | g.23424775C= | CA2123455694 | MYH7 | c.2673G= (p.Val891=) n.2779G= | |
| 14 | g.23424775C>G | CA485766892 | MYH7 | c.2673G>C (p.Val891=) n.2779G>C | |
| 14 | g.23424775C>T | CA485766894 | MYH7 | c.2673G>A (p.Val891=) n.2779G>A | ClinVar dbSNP |
| 14 | g.23424776A= | CA2123455698 | MYH7 | c.2672T= (p.Val891=) n.2778T= | |
| 14 | g.23424776A>C | CA389047814 | MYH7 | c.2672T>G (p.Val891Gly) n.2778T>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424776A>G | CA389047812 | MYH7 | c.2672T>C (p.Val891Ala) n.2778T>C | ClinVar dbSNP |
| 14 | g.23424776A>T | CA389047813 | MYH7 | c.2672T>A (p.Val891Glu) n.2778T>A | |
| 14 | g.23424777C>A | CA389047815 | MYH7 | c.2671G>T (p.Val891Leu) n.2777G>T | |
| 14 | g.23424777C= | CA2123455700 | MYH7 | c.2671G= (p.Val891=) n.2777G= | |
| 14 | g.23424777C>G | CA389047817 | MYH7 | c.2671G>C (p.Val891Leu) n.2777G>C | |
| 14 | g.23424777C>T | CA389047819 | MYH7 | c.2671G>A (p.Val891Met) n.2777G>A | ClinVar dbSNP |
| 14 | g.23424778T>A | CA389047821 | MYH7 | c.2670A>T (p.Gln890His) n.2776A>T | |
| 14 | g.23424778T>C | CA485766901 | MYH7 | c.2670A>G (p.Gln890=) n.2776A>G | |
| 14 | g.23424778T>G | CA389047822 | MYH7 | c.2670A>C (p.Gln890His) n.2776A>C | gnomAD v4 |
| 14 | g.23424779T>A | CA389047824 | MYH7 | c.2669A>T (p.Gln890Leu) n.2775A>T | |
| 14 | g.23424779T>C | CA389047826 | MYH7 | c.2669A>G (p.Gln890Arg) n.2775A>G | gnomAD v4 |
| 14 | g.23424779T>G | CA389047827 | MYH7 | c.2669A>C (p.Gln890Pro) n.2775A>C | |
| 14 | g.23424780G>A | CA389047828 | MYH7 | c.2668C>T (p.Gln890Ter) n.2774C>T | |
| 14 | g.23424780G>C | CA389047830 | MYH7 | c.2668C>G (p.Gln890Glu) n.2774C>G | |
| 14 | g.23424780G>T | CA389047832 | MYH7 | c.2668C>A (p.Gln890Lys) n.2774C>A | |
| 14 | g.23424781G>A | CA485766907 | MYH7 | c.2667C>T (p.Leu889=) n.2773C>T | |
| 14 | g.23424781G>C | CA485766908 | MYH7 | c.2667C>G (p.Leu889=) n.2773C>G | |
| 14 | g.23424781G>T | CA485766910 | MYH7 | c.2667C>A (p.Leu889=) n.2773C>A | dbSNP |
| 14 | g.23424781_23424782delinsGA | CA2123455702 | MYH7 | c.2666_2667delinsTC (p.Leu889=) n.2772_2773delinsTC | |
| 14 | g.23424781_23424782delinsTT | CA012800 | MYH7 | c.2666_2667delinsAA (p.Leu889Gln) n.2772_2773delinsAA | ClinVar dbSNP |
| 14 | g.23424782A= | CA2123455708 | MYH7 | c.2666T= (p.Leu889=) n.2772T= | |
| 14 | g.23424782A>C | CA389047834 | MYH7 | c.2666T>G (p.Leu889Arg) n.2772T>G | |
| 14 | g.23424782A>G | CA389047836 | MYH7 | c.2666T>C (p.Leu889Pro) n.2772T>C | ClinVar dbSNP |
| 14 | g.23424782A>T | CA10587774 | MYH7 | c.2666T>A (p.Leu889His) n.2772T>A | ClinVar dbSNP |
| 14 | g.23424783G>A | CA033660 | MYH7 | c.2665C>T (p.Leu889Phe) n.2771C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424783G>C | CA389047838 | MYH7 | c.2665C>G (p.Leu889Val) n.2771C>G | ClinVar dbSNP |
| 14 | g.23424783G= | CA2123455711 | MYH7 | c.2665C= (p.Leu889=) n.2771C= | |
| 14 | g.23424783G>T | CA389047839 | MYH7 | c.2665C>A (p.Leu889Ile) n.2771C>A | |
| 14 | g.23424784C>A | CA389047840 | MYH7 | c.2664G>T (p.Gln888His) n.2770G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23424784C= | CA2123455714 | MYH7 | c.2664G= (p.Gln888=) n.2770G= | |
| 14 | g.23424784C>G | CA389047841 | MYH7 | c.2664G>C (p.Gln888His) n.2770G>C | |
| 14 | g.23424784C>T | CA257819321 | MYH7 | c.2664G>A (p.Gln888=) n.2770G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424785T>A | CA389047843 | MYH7 | c.2663A>T (p.Gln888Leu) n.2769A>T | gnomAD v4 |
| 14 | g.23424785T>C | CA389047846 | MYH7 | c.2663A>G (p.Gln888Arg) n.2769A>G | |
| 14 | g.23424785T>G | CA389047844 | MYH7 | c.2663A>C (p.Gln888Pro) n.2769A>C | |
| 14 | g.23424786G>A | CA389047848 | MYH7 | c.2662C>T (p.Gln888Ter) n.2768C>T | ClinVar dbSNP |
| 14 | g.23424786G>C | CA389047850 | MYH7 | c.2662C>G (p.Gln888Glu) n.2768C>G | |
| 14 | g.23424786G>T | CA389047849 | MYH7 | c.2662C>A (p.Gln888Lys) n.2768C>A | |
| 14 | g.23424787C>A | CA485766927 | MYH7 | c.2661G>T (p.Leu887=) n.2767G>T | gnomAD v4 |
| 14 | g.23424787C>G | CA485766928 | MYH7 | c.2661G>C (p.Leu887=) n.2767G>C | |
| 14 | g.23424787C>T | CA485766929 | MYH7 | c.2661G>A (p.Leu887=) n.2767G>A | |
| 14 | g.23424788A= | CA2123455716 | MYH7 | c.2660T= (p.Leu887=) n.2766T= | |
| 14 | g.23424788A>C | CA012795 | MYH7 | c.2660T>G (p.Leu887Arg) n.2766T>G | dbSNP gnomAD v4 |
| 14 | g.23424788A>G | CA389047855 | MYH7 | c.2660T>C (p.Leu887Pro) n.2766T>C | |
| 14 | g.23424788A>T | CA389047853 | MYH7 | c.2660T>A (p.Leu887Gln) n.2766T>A | |
| 14 | g.23424789G>A | CA485766934 | MYH7 | c.2659C>T (p.Leu887=) n.2765C>T | gnomAD v4 |
| 14 | g.23424789G>C | CA389047857 | MYH7 | c.2659C>G (p.Leu887Val) n.2765C>G | |
| 14 | g.23424789G>T | CA389047858 | MYH7 | c.2659C>A (p.Leu887Met) n.2765C>A | |
| 14 | g.23424790G>A | CA033642 | MYH7 | c.2658C>T (p.Asp886=) n.2764C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424790G>C | CA389047861 | MYH7 | c.2658C>G (p.Asp886Glu) n.2764C>G | |
| 14 | g.23424790G= | CA2123455719 | MYH7 | c.2658C= (p.Asp886=) n.2764C= | |
| 14 | g.23424790G>T | CA257819337 | MYH7 | c.2658C>A (p.Asp886Glu) n.2764C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424791T>A | CA389047863 | MYH7 | c.2657A>T (p.Asp886Val) n.2763A>T | ClinVar |
| 14 | g.23424791T>C | CA389047864 | MYH7 | c.2657A>G (p.Asp886Gly) n.2763A>G | |
| 14 | g.23424791T>G | CA389047866 | MYH7 | c.2657A>C (p.Asp886Ala) n.2763A>C | |
| 14 | g.23424791_23424885delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC | CA2123455722 | MYH7 | c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA (p.Glu855=) n.2669_2763delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | |
| 14 | g.23424792C>A | CA389047867 | MYH7 | c.2656G>T (p.Asp886Tyr) n.2762G>T | |
| 14 | g.23424792C>G | CA389047869 | MYH7 | c.2656G>C (p.Asp886His) n.2762G>C | |
| 14 | g.23424792C>T | CA389047870 | MYH7 | c.2656G>A (p.Asp886Asn) n.2762G>A | |
| 14 | g.23424793_23424886del | CA1139663388 | MYH7 | c.2563_2656del (p.Glu855ThrfsTer23) n.2669_2762del | ClinVar dbSNP |
| 14 | g.23424793A= | CA2123455731 | MYH7 | c.2655T= (p.Asn885=) n.2761T= | |
| 14 | g.23424793A>C | CA389047871 | MYH7 | c.2655T>G (p.Asn885Lys) n.2761T>G | |
| 14 | g.23424793A>G | CA485766950 | MYH7 | c.2655T>C (p.Asn885=) n.2761T>C | |
| 14 | g.23424793A>T | CA279315 | MYH7 | c.2655T>A (p.Asn885Lys) n.2761T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424793_23424796delinsATTC | CA2123455730 | MYH7 | c.2652_2655delinsGAAT (p.Lys884=) n.2758_2761delinsGAAT | |
| 14 | g.23424794T>A | CA389047873 | MYH7 | c.2654A>T (p.Asn885Ile) n.2760A>T | |
| 14 | g.23424794T>C | CA389047875 | MYH7 | c.2654A>G (p.Asn885Ser) n.2760A>G | |
| 14 | g.23424794T>G | CA389047874 | MYH7 | c.2654A>C (p.Asn885Thr) n.2760A>C | |
| 14 | g.23424798_23424800del | CA012790 | MYH7 | c.2652_2654del (p.Lys884del) n.2758_2760del | ClinVar dbSNP |
| 14 | g.23424795T>A | CA389047877 | MYH7 | c.2653A>T (p.Asn885Tyr) n.2759A>T | ClinVar dbSNP |
| 14 | g.23424795T>C | CA389047878 | MYH7 | c.2653A>G (p.Asn885Asp) n.2759A>G | |
| 14 | g.23424795T>G | CA389047880 | MYH7 | c.2653A>C (p.Asn885His) n.2759A>C | |
| 14 | g.23424795T= | CA2123455739 | MYH7 | c.2653A= (p.Asn885=) n.2759A= | |
| 14 | g.23424796C>A | CA389047881 | MYH7 | c.2652G>T (p.Lys884Asn) n.2758G>T | gnomAD v4 |
| 14 | g.23424796C>G | CA389047883 | MYH7 | c.2652G>C (p.Lys884Asn) n.2758G>C | ClinVar dbSNP |
| 14 | g.23424796C>T | CA485766952 | MYH7 | c.2652G>A (p.Lys884=) n.2758G>A | |
| 14 | g.23424797T>A | CA389047884 | MYH7 | c.2651A>T (p.Lys884Met) n.2757A>T | |
| 14 | g.23424797T>C | CA389047886 | MYH7 | c.2651A>G (p.Lys884Arg) n.2757A>G | ClinVar dbSNP |
| 14 | g.23424797T>G | CA389047887 | MYH7 | c.2651A>C (p.Lys884Thr) n.2757A>C | |
| 14 | g.23424798T>A | CA389047890 | MYH7 | c.2650A>T (p.Lys884Ter) n.2756A>T | |
| 14 | g.23424798T>C | CA389047889 | MYH7 | c.2650A>G (p.Lys884Glu) n.2756A>G | |
| 14 | g.23424798T>G | CA389047888 | MYH7 | c.2650A>C (p.Lys884Gln) n.2756A>C | |
| 14 | g.23424798_23424801delinsTCTC | CA2123455743 | MYH7 | c.2647_2650delinsGAGA (p.Glu883=) n.2753_2756delinsGAGA | |
| 14 | g.23424799C>A | CA389047891 | MYH7 | c.2649G>T (p.Glu883Asp) n.2755G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23424799C= | CA2123455749 | MYH7 | c.2649G= (p.Glu883=) n.2755G= | |
| 14 | g.23424799C>G | CA389047892 | MYH7 | c.2649G>C (p.Glu883Asp) n.2755G>C | |
| 14 | g.23424799C>T | CA033602 | MYH7 | c.2649G>A (p.Glu883=) n.2755G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424801_23424803del | CA704292828 | MYH7 | c.2647_2649del (p.Glu883del) n.2753_2755del | dbSNP gnomAD v4 |
| 14 | g.23424800T>A | CA389047893 | MYH7 | c.2648A>T (p.Glu883Val) n.2754A>T | |
| 14 | g.23424800T>C | CA389047894 | MYH7 | c.2648A>G (p.Glu883Gly) n.2754A>G | gnomAD v4 |
| 14 | g.23424800T>G | CA389047895 | MYH7 | c.2648A>C (p.Glu883Ala) n.2754A>C | |
| 14 | g.23424801C>A | CA389047896 | MYH7 | c.2647G>T (p.Glu883Ter) n.2753G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424801C= | CA2123455754 | MYH7 | c.2647G= (p.Glu883=) n.2753G= | |
| 14 | g.23424801C>G | CA389047897 | MYH7 | c.2647G>C (p.Glu883Gln) n.2753G>C | |
| 14 | g.23424801C>T | CA389047898 | MYH7 | c.2647G>A (p.Glu883Lys) n.2753G>A | ClinVar dbSNP |
| 14 | g.23424802C>A | CA389047899 | MYH7 | c.2646G>T (p.Gln882His) n.2752G>T | |
| 14 | g.23424802C= | CA2123455756 | MYH7 | c.2646G= (p.Gln882=) n.2752G= | |
| 14 | g.23424802C>G | CA389047900 | MYH7 | c.2646G>C (p.Gln882His) n.2752G>C | |
| 14 | g.23424802C>T | CA485766964 | MYH7 | c.2646G>A (p.Gln882=) n.2752G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424803T>A | CA389047905 | MYH7 | c.2645A>T (p.Gln882Leu) n.2751A>T | |
| 14 | g.23424803T>C | CA389047904 | MYH7 | c.2645A>G (p.Gln882Arg) n.2751A>G | |
| 14 | g.23424803T>G | CA389047902 | MYH7 | c.2645A>C (p.Gln882Pro) n.2751A>C | |
| 14 | g.23424804G>A | CA257819348 | MYH7 | c.2644C>T (p.Gln882Ter) n.2750C>T | dbSNP gnomAD v4 |
| 14 | g.23424804G>C | CA012781 | MYH7 | c.2644C>G (p.Gln882Glu) n.2750C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424804G= | CA2123455761 | MYH7 | c.2644C= (p.Gln882=) n.2750C= | |
| 14 | g.23424804G>T | CA389047906 | MYH7 | c.2644C>A (p.Gln882Lys) n.2750C>A | |
| 14 | g.23424805C>A | CA033588 | MYH7 | c.2643G>T (p.Leu881=) n.2749G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424805C= | CA2123455766 | MYH7 | c.2643G= (p.Leu881=) n.2749G= | |
| 14 | g.23424805C>G | CA485766969 | MYH7 | c.2643G>C (p.Leu881=) n.2749G>C | |
| 14 | g.23424805C>T | CA485766971 | MYH7 | c.2643G>A (p.Leu881=) n.2749G>A | |
| 14 | g.23424806A= | CA2123455771 | MYH7 | c.2642T= (p.Leu881=) n.2748T= | |
| 14 | g.23424806A>C | CA389047909 | MYH7 | c.2642T>G (p.Leu881Arg) n.2748T>G | ClinVar dbSNP |
| 14 | g.23424806A>G | CA389047910 | MYH7 | c.2642T>C (p.Leu881Pro) n.2748T>C | ClinVar dbSNP |
| 14 | g.23424806A>T | CA389047911 | MYH7 | c.2642T>A (p.Leu881Gln) n.2748T>A | |
| 14 | g.23424807G>A | CA257819350 | MYH7 | c.2641C>T (p.Leu881=) n.2747C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424807G>C | CA389047913 | MYH7 | c.2641C>G (p.Leu881Val) n.2747C>G | |
| 14 | g.23424807G= | CA2123455775 | MYH7 | c.2641C= (p.Leu881=) n.2747C= | |
| 14 | g.23424807G>T | CA389047914 | MYH7 | c.2641C>A (p.Leu881Met) n.2747C>A | ClinVar dbSNP |
| 14 | g.23424808C>A | CA485766975 | MYH7 | c.2640G>T (p.Leu880=) n.2746G>T | |
| 14 | g.23424808C= | CA2123455778 | MYH7 | c.2640G= (p.Leu880=) n.2746G= | |
| 14 | g.23424808C>G | CA033569 | MYH7 | c.2640G>C (p.Leu880=) n.2746G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424808C>T | CA485766976 | MYH7 | c.2640G>A (p.Leu880=) n.2746G>A | ClinVar |
| 14 | g.23424809A>C | CA389047916 | MYH7 | c.2639T>G (p.Leu880Arg) n.2745T>G | |
| 14 | g.23424809A>G | CA389047918 | MYH7 | c.2639T>C (p.Leu880Pro) n.2745T>C | |
| 14 | g.23424809A>T | CA389047919 | MYH7 | c.2639T>A (p.Leu880Gln) n.2745T>A | COSMIC |
| 14 | g.23424810G>A | CA033552 | MYH7 | c.2638C>T (p.Leu880=) n.2744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424810G>C | CA389047922 | MYH7 | c.2638C>G (p.Leu880Val) n.2744C>G | |
| 14 | g.23424810G= | CA2123455783 | MYH7 | c.2638C= (p.Leu880=) n.2744C= | |
| 14 | g.23424810G>T | CA389047921 | MYH7 | c.2638C>A (p.Leu880Met) n.2744C>A | |
| 14 | g.23424811G>A | CA012778 | MYH7 | c.2637C>T (p.Ser879=) n.2743C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424811G>C | CA485766980 | MYH7 | c.2637C>G (p.Ser879=) n.2743C>G | |
| 14 | g.23424811G= | CA2123455786 | MYH7 | c.2637C= (p.Ser879=) n.2743C= | |
| 14 | g.23424811G>T | CA485766979 | MYH7 | c.2637C>A (p.Ser879=) n.2743C>A | |
| 14 | g.23424812G>A | CA389047926 | MYH7 | c.2636C>T (p.Ser879Phe) n.2742C>T | COSMIC |
| 14 | g.23424812G>C | CA389047927 | MYH7 | c.2636C>G (p.Ser879Cys) n.2742C>G | |
| 14 | g.23424812G= | CA2123455791 | MYH7 | c.2636C= (p.Ser879=) n.2742C= | |
| 14 | g.23424812G>T | CA033534 | MYH7 | c.2636C>A (p.Ser879Tyr) n.2742C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424813A>C | CA389047929 | MYH7 | c.2635T>G (p.Ser879Ala) n.2741T>G | |
| 14 | g.23424813A>G | CA389047931 | MYH7 | c.2635T>C (p.Ser879Pro) n.2741T>C | |
| 14 | g.23424813A>T | CA389047932 | MYH7 | c.2635T>A (p.Ser879Thr) n.2741T>A | |
| 14 | g.23424814C>A | CA485766988 | MYH7 | c.2634G>T (p.Val878=) n.2740G>T | gnomAD v4 |
| 14 | g.23424814C>G | CA485766987 | MYH7 | c.2634G>C (p.Val878=) n.2740G>C | |
| 14 | g.23424814C>T | CA485766985 | MYH7 | c.2634G>A (p.Val878=) n.2740G>A | |
| 14 | g.23424815A= | CA2123455797 | MYH7 | c.2633T= (p.Val878=) n.2739T= | |
| 14 | g.23424815A>C | CA389047934 | MYH7 | c.2633T>G (p.Val878Gly) n.2739T>G | |
| 14 | g.23424815A>G | CA16614088 | MYH7 | c.2633T>C (p.Val878Ala) n.2739T>C | ClinVar dbSNP |
| 14 | g.23424815A>T | CA389047935 | MYH7 | c.2633T>A (p.Val878Glu) n.2739T>A | |
| 14 | g.23424816C>A | CA389047937 | MYH7 | c.2632G>T (p.Val878Leu) n.2738G>T | ClinVar dbSNP |
| 14 | g.23424816C= | CA2123455808 | MYH7 | c.2632G= (p.Val878=) n.2738G= | |
| 14 | g.23424816C>G | CA012769 | MYH7 | c.2632G>C (p.Val878Leu) n.2738G>C | ClinVar dbSNP |
| 14 | g.23424816C>T | CA389047939 | MYH7 | c.2632G>A (p.Val878Met) n.2738G>A | ClinVar dbSNP |
| 14 | g.23424817C>A | CA16609633 | MYH7 | c.2631G>T (p.Met877Ile) n.2737G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23424817C= | CA2123455821 | MYH7 | c.2631G= (p.Met877=) n.2737G= | |
| 14 | g.23424817C>G | CA389047941 | MYH7 | c.2631G>C (p.Met877Ile) n.2737G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424817C>T | CA389047943 | MYH7 | c.2631G>A (p.Met877Ile) n.2737G>A | ClinVar dbSNP |
| 14 | g.23424818A= | CA2123455831 | MYH7 | c.2630T= (p.Met877=) n.2736T= | |
| 14 | g.23424818A>C | CA389047945 | MYH7 | c.2630T>G (p.Met877Arg) n.2736T>G | |
| 14 | g.23424818A>G | CA389047948 | MYH7 | c.2630T>C (p.Met877Thr) n.2736T>C | ClinVar dbSNP |
| 14 | g.23424818A>T | CA389047946 | MYH7 | c.2630T>A (p.Met877Lys) n.2736T>A | ClinVar dbSNP |
| 14 | g.23424818_23424821delinsATCT | CA2123455830 | MYH7 | c.2627_2630delinsAGAT (p.Lys876=) n.2733_2736delinsAGAT | |
| 14 | g.23424819T>A | CA257819358 | MYH7 | c.2629A>T (p.Met877Leu) n.2735A>T | dbSNP |
| 14 | g.23424819T>C | CA389047950 | MYH7 | c.2629A>G (p.Met877Val) n.2735A>G | |
| 14 | g.23424819T>G | CA389047952 | MYH7 | c.2629A>C (p.Met877Leu) n.2735A>C | |
| 14 | g.23424819T= | CA2123455838 | MYH7 | c.2629A= (p.Met877=) n.2735A= | |
| 14 | g.23424822_23424824del | CA012760 | MYH7 | c.2627_2629del (p.Lys876del) n.2733_2735del | ClinVar dbSNP |
| 14 | g.23424820C>A | CA389047954 | MYH7 | c.2628G>T (p.Lys876Asn) n.2734G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424820C= | CA2123455840 | MYH7 | c.2628G= (p.Lys876=) n.2734G= | |
| 14 | g.23424820C>G | CA389047955 | MYH7 | c.2628G>C (p.Lys876Asn) n.2734G>C | COSMIC |
| 14 | g.23424820C>T | CA033517 | MYH7 | c.2628G>A (p.Lys876=) n.2734G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424821T>A | CA389047956 | MYH7 | c.2627A>T (p.Lys876Met) n.2733A>T | |
| 14 | g.23424821T>C | CA389047957 | MYH7 | c.2627A>G (p.Lys876Arg) n.2733A>G | |
| 14 | g.23424821T>G | CA389047958 | MYH7 | c.2627A>C (p.Lys876Thr) n.2733A>C | |
| 14 | g.23424822T>A | CA389047961 | MYH7 | c.2626A>T (p.Lys876Ter) n.2732A>T | |
| 14 | g.23424822T>C | CA389047962 | MYH7 | c.2626A>G (p.Lys876Glu) n.2732A>G | |
| 14 | g.23424822T>G | CA389047960 | MYH7 | c.2626A>C (p.Lys876Gln) n.2732A>C | ClinVar dbSNP |
| 14 | g.23424822_23424825delinsTCTC | CA2123455843 | MYH7 | c.2623_2626delinsGAGA (p.Glu875=) n.2729_2732delinsGAGA | |
| 14 | g.23424823C>A | CA389047964 | MYH7 | c.2625G>T (p.Glu875Asp) n.2731G>T | |
| 14 | g.23424823C>G | CA389047965 | MYH7 | c.2625G>C (p.Glu875Asp) n.2731G>C | COSMIC |
| 14 | g.23424823C>T | CA485767001 | MYH7 | c.2625G>A (p.Glu875=) n.2731G>A | |
| 14 | g.23424827_23424829del | CA012755 | MYH7 | c.2623_2625del (p.Glu875del) n.2729_2731del | ClinVar dbSNP |
| 14 | g.23424824T>A | CA389047967 | MYH7 | c.2624A>T (p.Glu875Val) n.2730A>T | |
| 14 | g.23424824T>C | CA389047969 | MYH7 | c.2624A>G (p.Glu875Gly) n.2730A>G | gnomAD v4 |
| 14 | g.23424824T>G | CA389047971 | MYH7 | c.2624A>C (p.Glu875Ala) n.2730A>C | |
| 14 | g.23424825C>A | CA389047976 | MYH7 | c.2623G>T (p.Glu875Ter) n.2729G>T | |
| 14 | g.23424825C>G | CA389047972 | MYH7 | c.2623G>C (p.Glu875Gln) n.2729G>C | |
| 14 | g.23424825C>T | CA389047974 | MYH7 | c.2623G>A (p.Glu875Lys) n.2729G>A | ClinVar COSMIC |
| 14 | g.23424826C>A | CA389047978 | MYH7 | c.2622G>T (p.Glu874Asp) n.2728G>T | |
| 14 | g.23424826C= | CA2123455851 | MYH7 | c.2622G= (p.Glu874=) n.2728G= | |
| 14 | g.23424826C>G | CA389047979 | MYH7 | c.2622G>C (p.Glu874Asp) n.2728G>C | |
| 14 | g.23424826C>T | CA485767006 | MYH7 | c.2622G>A (p.Glu874=) n.2728G>A | dbSNP COSMIC |
| 14 | g.23424827T>A | CA389047981 | MYH7 | c.2621A>T (p.Glu874Val) n.2727A>T | |
| 14 | g.23424827T>C | CA389047982 | MYH7 | c.2621A>G (p.Glu874Gly) n.2727A>G | |
| 14 | g.23424827T>G | CA389047983 | MYH7 | c.2621A>C (p.Glu874Ala) n.2727A>C | |
| 14 | g.23424828C>A | CA389047984 | MYH7 | c.2620G>T (p.Glu874Ter) n.2726G>T | gnomAD v4 |
| 14 | g.23424828C>G | CA389047987 | MYH7 | c.2620G>C (p.Glu874Gln) n.2726G>C | |
| 14 | g.23424828C>T | CA389047986 | MYH7 | c.2620G>A (p.Glu874Lys) n.2726G>A | |
| 14 | g.23424829C>A | CA485767009 | MYH7 | c.2619G>T (p.Leu873=) n.2725G>T | |
| 14 | g.23424829C= | CA2123455853 | MYH7 | c.2619G= (p.Leu873=) n.2725G= | |
| 14 | g.23424829C>G | CA485767011 | MYH7 | c.2619G>C (p.Leu873=) n.2725G>C | |
| 14 | g.23424829C>T | CA033481 | MYH7 | c.2619G>A (p.Leu873=) n.2725G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424830A= | CA2123455860 | MYH7 | c.2618T= (p.Leu873=) n.2724T= | |
| 14 | g.23424830A>C | CA389047988 | MYH7 | c.2618T>G (p.Leu873Arg) n.2724T>G | |
| 14 | g.23424830A>G | CA389047990 | MYH7 | c.2618T>C (p.Leu873Pro) n.2724T>C | ClinVar dbSNP |
| 14 | g.23424830A>T | CA389047992 | MYH7 | c.2618T>A (p.Leu873Gln) n.2724T>A | |
| 14 | g.23424831G>A | CA033457 | MYH7 | c.2617C>T (p.Leu873=) n.2723C>T | dbSNP ExAC gnomAD v2 |
| 14 | g.23424831G>C | CA389047993 | MYH7 | c.2617C>G (p.Leu873Val) n.2723C>G | |
| 14 | g.23424831G= | CA2123455865 | MYH7 | c.2617C= (p.Leu873=) n.2723C= | |
| 14 | g.23424831G>T | CA389047995 | MYH7 | c.2617C>A (p.Leu873Met) n.2723C>A | |
| 14 | g.23424832C>A | CA389047996 | MYH7 | c.2616G>T (p.Glu872Asp) n.2722G>T | |
| 14 | g.23424832C= | CA2123455867 | MYH7 | c.2616G= (p.Glu872=) n.2722G= | |
| 14 | g.23424832C>G | CA389047998 | MYH7 | c.2616G>C (p.Glu872Asp) n.2722G>C | |
| 14 | g.23424832C>T | CA033435 | MYH7 | c.2616G>A (p.Glu872=) n.2722G>A | dbSNP ExAC gnomAD v2 |
| 14 | g.23424833T>A | CA389048000 | MYH7 | c.2615A>T (p.Glu872Val) n.2721A>T | |
| 14 | g.23424833T>C | CA389048001 | MYH7 | c.2615A>G (p.Glu872Gly) n.2721A>G | |
| 14 | g.23424833T>G | CA389048002 | MYH7 | c.2615A>C (p.Glu872Ala) n.2721A>C | |
| 14 | g.23424834C>A | CA389048008 | MYH7 | c.2614G>T (p.Glu872Ter) n.2720G>T | |
| 14 | g.23424834C>G | CA389048006 | MYH7 | c.2614G>C (p.Glu872Gln) n.2720G>C | |
| 14 | g.23424834C>T | CA389048004 | MYH7 | c.2614G>A (p.Glu872Lys) n.2720G>A | dbSNP COSMIC |
| 14 | g.23424835C>A | CA352009 | MYH7 | c.2613G>T (p.Lys871Asn) n.2719G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424835C= | CA2123455871 | MYH7 | c.2613G= (p.Lys871=) n.2719G= | |
| 14 | g.23424835C>G | CA389048009 | MYH7 | c.2613G>C (p.Lys871Asn) n.2719G>C | |
| 14 | g.23424835C>T | CA485767014 | MYH7 | c.2613G>A (p.Lys871=) n.2719G>A | ClinVar |
| 14 | g.23424836T>A | CA389048010 | MYH7 | c.2612A>T (p.Lys871Met) n.2718A>T | |
| 14 | g.23424836T>C | CA389048012 | MYH7 | c.2612A>G (p.Lys871Arg) n.2718A>G | |
| 14 | g.23424836T>G | CA389048013 | MYH7 | c.2612A>C (p.Lys871Thr) n.2718A>C | |
| 14 | g.23424837T>A | CA389048015 | MYH7 | c.2611A>T (p.Lys871Ter) n.2717A>T | dbSNP |
| 14 | g.23424837T>C | CA389048017 | MYH7 | c.2611A>G (p.Lys871Glu) n.2717A>G | |
| 14 | g.23424837T>G | CA389048018 | MYH7 | c.2611A>C (p.Lys871Gln) n.2717A>C | |
| 14 | g.23424838G>A | CA485767017 | MYH7 | c.2610C>T (p.Arg870=) n.2716C>T | gnomAD v4 |
| 14 | g.23424838G>C | CA485767019 | MYH7 | c.2610C>G (p.Arg870=) n.2716C>G | |
| 14 | g.23424838G>T | CA485767021 | MYH7 | c.2610C>A (p.Arg870=) n.2716C>A | |
| 14 | g.23424841_23424843del | CA2580616571 | MYH7 | c.2608_2610del (p.Arg870del) n.2714_2716del | ClinVar dbSNP |
| 14 | g.23424839C>A | CA10581172 | MYH7 | c.2609G>T (p.Arg870Leu) n.2715G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424839C= | CA2123455884 | MYH7 | c.2609G= (p.Arg870=) n.2715G= | |
| 14 | g.23424839C>G | CA389048020 | MYH7 | c.2609G>C (p.Arg870Pro) n.2715G>C | ClinVar dbSNP |
| 14 | g.23424839C>T | CA012740 | MYH7 | c.2609G>A (p.Arg870His) n.2715G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424840G>A | CA012732 | MYH7 | c.2608C>T (p.Arg870Cys) n.2714C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424840G>C | CA389048021 | MYH7 | c.2608C>G (p.Arg870Gly) n.2714C>G | |
| 14 | g.23424840G= | CA2123455891 | MYH7 | c.2608C= (p.Arg870=) n.2714C= | |
| 14 | g.23424840G>T | CA389048023 | MYH7 | c.2608C>A (p.Arg870Ser) n.2714C>A | |
| 14 | g.23424841G>A | CA485767024 | MYH7 | c.2607C>T (p.Arg869=) n.2713C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424841G>C | CA485767025 | MYH7 | c.2607C>G (p.Arg869=) n.2713C>G | |
| 14 | g.23424841G= | CA2123455895 | MYH7 | c.2607C= (p.Arg869=) n.2713C= | |
| 14 | g.23424841G>T | CA485767026 | MYH7 | c.2607C>A (p.Arg869=) n.2713C>A | |
| 14 | g.23424842C>A | CA389048024 | MYH7 | c.2606G>T (p.Arg869Leu) n.2712G>T | |
| 14 | g.23424842C= | CA2123455902 | MYH7 | c.2606G= (p.Arg869=) n.2712G= | |
| 14 | g.23424842C>G | CA389048026 | MYH7 | c.2606G>C (p.Arg869Pro) n.2712G>C | ClinVar |
| 14 | g.23424842C>T | CA012723 | MYH7 | c.2606G>A (p.Arg869His) n.2712G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424843G>A | CA012714 | MYH7 | c.2605C>T (p.Arg869Cys) n.2711C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424843G>C | CA389048030 | MYH7 | c.2605C>G (p.Arg869Gly) n.2711C>G | dbSNP |
| 14 | g.23424843G= | CA2123455909 | MYH7 | c.2605C= (p.Arg869=) n.2711C= | |
| 14 | g.23424843G>T | CA012708 | MYH7 | c.2605C>A (p.Arg869Ser) n.2711C>A | dbSNP |
| 14 | g.23424844A= | CA2123455914 | MYH7 | c.2604T= (p.Ala868=) n.2710T= | |
| 14 | g.23424844A>C | CA485767031 | MYH7 | c.2604T>G (p.Ala868=) n.2710T>G | |
| 14 | g.23424844A>G | CA033376 | MYH7 | c.2604T>C (p.Ala868=) n.2710T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424844A>T | CA485767034 | MYH7 | c.2604T>A (p.Ala868=) n.2710T>A | |
| 14 | g.23424845G>A | CA389048033 | MYH7 | c.2603C>T (p.Ala868Val) n.2709C>T | |
| 14 | g.23424845G>C | CA389048036 | MYH7 | c.2603C>G (p.Ala868Gly) n.2709C>G | |
| 14 | g.23424845G>T | CA389048037 | MYH7 | c.2603C>A (p.Ala868Asp) n.2709C>A | |
| 14 | g.23424846C>A | CA389048039 | MYH7 | c.2602G>T (p.Ala868Ser) n.2708G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424846C= | CA2123455916 | MYH7 | c.2602G= (p.Ala868=) n.2708G= | |
| 14 | g.23424846C>G | CA012698 | MYH7 | c.2602G>C (p.Ala868Pro) n.2708G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424846C>T | CA389048040 | MYH7 | c.2602G>A (p.Ala868Thr) n.2708G>A | ClinVar |
| 14 | g.23424847C>A | CA389048042 | MYH7 | c.2601G>T (p.Glu867Asp) n.2707G>T | |
| 14 | g.23424847C>G | CA389048044 | MYH7 | c.2601G>C (p.Glu867Asp) n.2707G>C | |
| 14 | g.23424847C>T | CA485767035 | MYH7 | c.2601G>A (p.Glu867=) n.2707G>A | |
| 14 | g.23424848T>A | CA389048045 | MYH7 | c.2600A>T (p.Glu867Val) n.2706A>T | |
| 14 | g.23424848T>C | CA389048046 | MYH7 | c.2600A>G (p.Glu867Gly) n.2706A>G | |
| 14 | g.23424848T>G | CA389048047 | MYH7 | c.2600A>C (p.Glu867Ala) n.2706A>C |