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.23424791_23424885delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC | CA2123455722 | MYH7 | c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA (p.Glu855=) n.2669_2763delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | |
| 14 | g.23424793_23424886del | CA1139663388 | MYH7 | c.2563_2656del (p.Glu855ThrfsTer23) n.2669_2762del | ClinVar dbSNP |
| 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 | |
| 14 | g.23424849C>A | CA389048049 | MYH7 | c.2599G>T (p.Glu867Ter) n.2705G>T | |
| 14 | g.23424849C= | CA2123455921 | MYH7 | c.2599G= (p.Glu867=) n.2705G= | |
| 14 | g.23424849C>G | CA389048052 | MYH7 | c.2599G>C (p.Glu867Gln) n.2705G>C | |
| 14 | g.23424849C>T | CA012692 | MYH7 | c.2599G>A (p.Glu867Lys) n.2705G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424850G>A | CA485767043 | MYH7 | c.2598C>T (p.Ser866=) n.2704C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424850G>C | CA485767044 | MYH7 | c.2598C>G (p.Ser866=) n.2704C>G | gnomAD v4 |
| 14 | g.23424850G= | CA2123455923 | MYH7 | c.2598C= (p.Ser866=) n.2704C= | |
| 14 | g.23424850G>T | CA485767045 | MYH7 | c.2598C>A (p.Ser866=) n.2704C>A | gnomAD v4 |
| 14 | g.23424851G>A | CA389048053 | MYH7 | c.2597C>T (p.Ser866Phe) n.2703C>T | |
| 14 | g.23424851G>C | CA389048055 | MYH7 | c.2597C>G (p.Ser866Cys) n.2703C>G | |
| 14 | g.23424851G= | CA2123455928 | MYH7 | c.2597C= (p.Ser866=) n.2703C= | |
| 14 | g.23424851G>T | CA389048057 | MYH7 | c.2597C>A (p.Ser866Tyr) n.2703C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424852A= | CA2123455932 | MYH7 | c.2596T= (p.Ser866=) n.2702T= | |
| 14 | g.23424852A>C | CA389048058 | MYH7 | c.2596T>G (p.Ser866Ala) n.2702T>G | |
| 14 | g.23424852A>G | CA389048059 | MYH7 | c.2596T>C (p.Ser866Pro) n.2702T>C | ClinVar dbSNP |
| 14 | g.23424852A>T | CA389048060 | MYH7 | c.2596T>A (p.Ser866Thr) n.2702T>A | |
| 14 | g.23424853C>A | CA389048061 | MYH7 | c.2595G>T (p.Lys865Asn) n.2701G>T | |
| 14 | g.23424853C= | CA2123455937 | MYH7 | c.2595G= (p.Lys865=) n.2701G= | |
| 14 | g.23424853C>G | CA389048062 | MYH7 | c.2595G>C (p.Lys865Asn) n.2701G>C | |
| 14 | g.23424853C>T | CA485767048 | MYH7 | c.2595G>A (p.Lys865=) n.2701G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424854T>A | CA257819398 | MYH7 | c.2594A>T (p.Lys865Met) n.2700A>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424854T>C | CA033314 | MYH7 | c.2594A>G (p.Lys865Arg) n.2700A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424854T>G | CA389048063 | MYH7 | c.2594A>C (p.Lys865Thr) n.2700A>C | |
| 14 | g.23424854T= | CA2123455943 | MYH7 | c.2594A= (p.Lys865=) n.2700A= | |
| 14 | g.23424855T>A | CA389048065 | MYH7 | c.2593A>T (p.Lys865Ter) n.2699A>T | |
| 14 | g.23424855T>C | CA012685 | MYH7 | c.2593A>G (p.Lys865Glu) n.2699A>G | ClinVar dbSNP |
| 14 | g.23424855T>G | CA389048064 | MYH7 | c.2593A>C (p.Lys865Gln) n.2699A>C | |
| 14 | g.23424855T= | CA2123455951 | MYH7 | c.2593A= (p.Lys865=) n.2699A= | |
| 14 | g.23424856C>A | CA389048066 | MYH7 | c.2592G>T (p.Glu864Asp) n.2698G>T | |
| 14 | g.23424856C>G | CA389048067 | MYH7 | c.2592G>C (p.Glu864Asp) n.2698G>C | |
| 14 | g.23424856C>T | CA485767056 | MYH7 | c.2592G>A (p.Glu864=) n.2698G>A | |
| 14 | g.23424857T>A | CA389048069 | MYH7 | c.2591A>T (p.Glu864Val) n.2697A>T | |
| 14 | g.23424857T>C | CA389048070 | MYH7 | c.2591A>G (p.Glu864Gly) n.2697A>G | |
| 14 | g.23424857T>G | CA389048071 | MYH7 | c.2591A>C (p.Glu864Ala) n.2697A>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424857T= | CA2123455955 | MYH7 | c.2591A= (p.Glu864=) n.2697A= | |
| 14 | g.23424858C>A | CA389048072 | MYH7 | c.2590G>T (p.Glu864Ter) n.2696G>T | |
| 14 | g.23424858C>G | CA389048073 | MYH7 | c.2590G>C (p.Glu864Gln) n.2696G>C | |
| 14 | g.23424858C>T | CA389048074 | MYH7 | c.2590G>A (p.Glu864Lys) n.2696G>A | gnomAD v4 |
| 14 | g.23424859T>A | CA485767059 | MYH7 | c.2589A>T (p.Leu863=) n.2695A>T | |
| 14 | g.23424859T>C | CA485767060 | MYH7 | c.2589A>G (p.Leu863=) n.2695A>G | gnomAD v4 COSMIC |
| 14 | g.23424859T>G | CA485767061 | MYH7 | c.2589A>C (p.Leu863=) n.2695A>C | COSMIC |
| 14 | g.23424860A= | CA2123455960 | MYH7 | c.2588T= (p.Leu863=) n.2694T= | |
| 14 | g.23424860A>C | CA389048077 | MYH7 | c.2588T>G (p.Leu863Arg) n.2694T>G | ClinVar dbSNP |
| 14 | g.23424860A>G | CA389048078 | MYH7 | c.2588T>C (p.Leu863Pro) n.2694T>C | ClinVar |
| 14 | g.23424860A>T | CA389048080 | MYH7 | c.2588T>A (p.Leu863Gln) n.2694T>A | |
| 14 | g.23424861G>A | CA485767064 | MYH7 | c.2587C>T (p.Leu863=) n.2693C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424861G>C | CA389048081 | MYH7 | c.2587C>G (p.Leu863Val) n.2693C>G | COSMIC |
| 14 | g.23424861G= | CA2123455963 | MYH7 | c.2587C= (p.Leu863=) n.2693C= | |
| 14 | g.23424861G>T | CA389048082 | MYH7 | c.2587C>A (p.Leu863Ile) n.2693C>A | ClinVar dbSNP |
| 14 | g.23424862C>A | CA257819405 | MYH7 | c.2586G>T (p.Ala862=) n.2692G>T | dbSNP |
| 14 | g.23424862C= | CA2123455969 | MYH7 | c.2586G= (p.Ala862=) n.2692G= | |
| 14 | g.23424862C>G | CA485767066 | MYH7 | c.2586G>C (p.Ala862=) n.2692G>C | |
| 14 | g.23424862C>T | CA033291 | MYH7 | c.2586G>A (p.Ala862=) n.2692G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424863G>A | CA012680 | MYH7 | c.2585C>T (p.Ala862Val) n.2691C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424863G>C | CA389048086 | MYH7 | c.2585C>G (p.Ala862Gly) n.2691C>G | ClinVar dbSNP |
| 14 | g.23424863G= | CA2123455976 | MYH7 | c.2585C= (p.Ala862=) n.2691C= | |
| 14 | g.23424863G>T | CA389048087 | MYH7 | c.2585C>A (p.Ala862Glu) n.2691C>A | |
| 14 | g.23424864C>A | CA389048089 | MYH7 | c.2584G>T (p.Ala862Ser) n.2690G>T | |
| 14 | g.23424864C>G | CA389048091 | MYH7 | c.2584G>C (p.Ala862Pro) n.2690G>C | |
| 14 | g.23424864C>T | CA389048093 | MYH7 | c.2584G>A (p.Ala862Thr) n.2690G>A | gnomAD v4 |
| 14 | g.23424865C>A | CA389048094 | MYH7 | c.2583G>T (p.Glu861Asp) n.2689G>T | |
| 14 | g.23424865C>G | CA389048095 | MYH7 | c.2583G>C (p.Glu861Asp) n.2689G>C | gnomAD v4 |
| 14 | g.23424865C>T | CA485767079 | MYH7 | c.2583G>A (p.Glu861=) n.2689G>A | |
| 14 | g.23424866T>A | CA389048096 | MYH7 | c.2582A>T (p.Glu861Val) n.2688A>T | |
| 14 | g.23424866T>C | CA389048098 | MYH7 | c.2582A>G (p.Glu861Gly) n.2688A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424866T>G | CA389048097 | MYH7 | c.2582A>C (p.Glu861Ala) n.2688A>C | |
| 14 | g.23424866T= | CA2123455981 | MYH7 | c.2582A= (p.Glu861=) n.2688A= | |
| 14 | g.23424866_23424867delinsAA | CA2573149865 | MYH7 | c.2581_2582delinsTT (p.Glu861Leu) n.2687_2688delinsTT | ClinVar dbSNP |
| 14 | g.23424867C>A | CA389048100 | MYH7 | c.2581G>T (p.Glu861Ter) n.2687G>T | |
| 14 | g.23424867C= | CA2123455986 | MYH7 | c.2581G= (p.Glu861=) n.2687G= | |
| 14 | g.23424867C>G | CA389048101 | MYH7 | c.2581G>C (p.Glu861Gln) n.2687G>C | |
| 14 | g.23424867C>T | CA10583169 | MYH7 | c.2581G>A (p.Glu861Lys) n.2687G>A | ClinVar dbSNP |
| 14 | g.23424868T>A | CA389048104 | MYH7 | c.2580A>T (p.Lys860Asn) n.2686A>T | |
| 14 | g.23424868T>C | CA485767084 | MYH7 | c.2580A>G (p.Lys860=) n.2686A>G | |
| 14 | g.23424868T>G | CA389048105 | MYH7 | c.2580A>C (p.Lys860Asn) n.2686A>C | |
| 14 | g.23424869T>A | CA389048106 | MYH7 | c.2579A>T (p.Lys860Ile) n.2685A>T | |
| 14 | g.23424869T>C | CA389048108 | MYH7 | c.2579A>G (p.Lys860Arg) n.2685A>G | ClinVar dbSNP |
| 14 | g.23424869T>G | CA389048107 | MYH7 | c.2579A>C (p.Lys860Thr) n.2685A>C | |
| 14 | g.23424869T= | CA2123455992 | MYH7 | c.2579A= (p.Lys860=) n.2685A= | |
| 14 | g.23424870T>A | CA389048110 | MYH7 | c.2578A>T (p.Lys860Ter) n.2684A>T | |
| 14 | g.23424870T>C | CA012673 | MYH7 | c.2578A>G (p.Lys860Glu) n.2684A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424870T>G | CA033264 | MYH7 | c.2578A>C (p.Lys860Gln) n.2684A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424870T= | CA2123455997 | MYH7 | c.2578A= (p.Lys860=) n.2684A= | |
| 14 | g.23424871G>A | CA485767090 | MYH7 | c.2577C>T (p.Leu859=) n.2683C>T | |
| 14 | g.23424871G>C | CA485767091 | MYH7 | c.2577C>G (p.Leu859=) n.2683C>G | gnomAD v4 |
| 14 | g.23424871G>T | CA485767092 | MYH7 | c.2577C>A (p.Leu859=) n.2683C>A | |
| 14 | g.23424872A= | CA2123456001 | MYH7 | c.2576T= (p.Leu859=) n.2682T= | |
| 14 | g.23424872A>C | CA389048113 | MYH7 | c.2576T>G (p.Leu859Arg) n.2682T>G | |
| 14 | g.23424872A>G | CA389048114 | MYH7 | c.2576T>C (p.Leu859Pro) n.2682T>C | ClinVar dbSNP |
| 14 | g.23424872A>T | CA389048116 | MYH7 | c.2576T>A (p.Leu859His) n.2682T>A | |
| 14 | g.23424873G>A | CA389048119 | MYH7 | c.2575C>T (p.Leu859Phe) n.2681C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424873G>C | CA389048120 | MYH7 | c.2575C>G (p.Leu859Val) n.2681C>G | |
| 14 | g.23424873G= | CA2123456006 | MYH7 | c.2575C= (p.Leu859=) n.2681C= | |
| 14 | g.23424873G>T | CA389048121 | MYH7 | c.2575C>A (p.Leu859Ile) n.2681C>A | |
| 14 | g.23424873_23424874insC | CA2624227953 | MYH7 | c.2574_2575insG (p.Leu859AlafsTer28) n.2680_2681insG | gnomAD v4 |
| 14 | g.23424874G>A | CA485767099 | MYH7 | c.2574C>T (p.Arg858=) n.2680C>T | COSMIC |
| 14 | g.23424874G>C | CA485767103 | MYH7 | c.2574C>G (p.Arg858=) n.2680C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424874G= | CA2123456009 | MYH7 | c.2574C= (p.Arg858=) n.2680C= | |
| 14 | g.23424874G>T | CA485767101 | MYH7 | c.2574C>A (p.Arg858=) n.2680C>A | |
| 14 | g.23424874_23424875delinsGC | CA2123456013 | MYH7 | c.2573_2574delinsGC (p.Arg858=) n.2679_2680delinsGC | |
| 14 | g.23424875del | CA919376055 | MYH7 | c.2573del (p.Arg858ProfsTer6) n.2679del | dbSNP |
| 14 | g.23424875C>A | CA033255 | MYH7 | c.2573G>T (p.Arg858Leu) n.2679G>T | dbSNP ExAC gnomAD v4 |
| 14 | g.23424875C= | CA2123456029 | MYH7 | c.2573G= (p.Arg858=) n.2679G= | |
| 14 | g.23424875C>G | CA257819426 | MYH7 | c.2573G>C (p.Arg858Pro) n.2679G>C | ClinVar dbSNP |
| 14 | g.23424875C>T | CA012665 | MYH7 | c.2573G>A (p.Arg858His) n.2679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424875_23424876delinsCG | CA2123456024 | MYH7 | c.2572_2573delinsCG (p.Arg858=) n.2678_2679delinsCG | |
| 14 | g.23424876del | CA919376057 | MYH7 | c.2572del (p.Arg858AlafsTer6) n.2678del | dbSNP |
| 14 | g.23424876G>A | CA012656 | MYH7 | c.2572C>T (p.Arg858Cys) n.2678C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424876G>C | CA012648 | MYH7 | c.2572C>G (p.Arg858Gly) n.2678C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424876G= | CA2123456044 | MYH7 | c.2572C= (p.Arg858=) n.2678C= | |
| 14 | g.23424876G>T | CA012639 | MYH7 | c.2572C>A (p.Arg858Ser) n.2678C>A | ClinVar dbSNP |
| 14 | g.23424876_23424877delinsCC | CA2580087912 | MYH7 | c.2571_2572delinsGG (p.Arg858Gly) n.2677_2678delinsGG | ClinVar |
| 14 | g.23424877T>A | CA033230 | MYH7 | c.2571A>T (p.Thr857=) n.2677A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424877T>C | CA485767112 | MYH7 | c.2571A>G (p.Thr857=) n.2677A>G | |
| 14 | g.23424877T>G | CA485767113 | MYH7 | c.2571A>C (p.Thr857=) n.2677A>C | |
| 14 | g.23424877T= | CA2123456055 | MYH7 | c.2571A= (p.Thr857=) n.2677A= | |
| 14 | g.23424878G>A | CA012630 | MYH7 | c.2570C>T (p.Thr857Ile) n.2676C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424878G>C | CA389048128 | MYH7 | c.2570C>G (p.Thr857Arg) n.2676C>G | |
| 14 | g.23424878G= | CA2123456058 | MYH7 | c.2570C= (p.Thr857=) n.2676C= | |
| 14 | g.23424878G>T | CA389048129 | MYH7 | c.2570C>A (p.Thr857Lys) n.2676C>A | ClinVar |
| 14 | g.23424878_23424882del | CA2624227983 | MYH7 | c.2566_2570del (p.Phe856ThrfsTer29) n.2672_2676del | gnomAD v4 |
| 14 | g.23424879T>A | CA389048130 | MYH7 | c.2569A>T (p.Thr857Ser) n.2675A>T | |
| 14 | g.23424879T>C | CA389048131 | MYH7 | c.2569A>G (p.Thr857Ala) n.2675A>G | COSMIC |
| 14 | g.23424879T>G | CA389048132 | MYH7 | c.2569A>C (p.Thr857Pro) n.2675A>C | |
| 14 | g.23424880G>A | CA485767123 | MYH7 | c.2568C>T (p.Phe856=) n.2674C>T | |
| 14 | g.23424880G>C | CA389048133 | MYH7 | c.2568C>G (p.Phe856Leu) n.2674C>G | |
| 14 | g.23424880G>T | CA389048134 | MYH7 | c.2568C>A (p.Phe856Leu) n.2674C>A | |
| 14 | g.23424881A>C | CA389048135 | MYH7 | c.2567T>G (p.Phe856Cys) n.2673T>G | |
| 14 | g.23424881A>G | CA389048136 | MYH7 | c.2567T>C (p.Phe856Ser) n.2673T>C | |
| 14 | g.23424881A>T | CA389048137 | MYH7 | c.2567T>A (p.Phe856Tyr) n.2673T>A | |
| 14 | g.23424882A= | CA2123456065 | MYH7 | c.2566T= (p.Phe856=) n.2672T= | |
| 14 | g.23424882A>C | CA389048140 | MYH7 | c.2566T>G (p.Phe856Val) n.2672T>G | |
| 14 | g.23424882A>G | CA389048139 | MYH7 | c.2566T>C (p.Phe856Leu) n.2672T>C | ClinVar dbSNP |
| 14 | g.23424882A>T | CA389048138 | MYH7 | c.2566T>A (p.Phe856Ile) n.2672T>A | |
| 14 | g.23424882_23424885delinsACTC | CA2123456063 | MYH7 | c.2563_2566delinsGAGT (p.Glu855=) n.2669_2672delinsGAGT | |
| 14 | g.23424883C>A | CA389048141 | MYH7 | c.2565G>T (p.Glu855Asp) n.2671G>T | |
| 14 | g.23424883C>G | CA389048142 | MYH7 | c.2565G>C (p.Glu855Asp) n.2671G>C | gnomAD v4 |
| 14 | g.23424883C>T | CA485767128 | MYH7 | c.2565G>A (p.Glu855=) n.2671G>A | |
| 14 | g.23424888_23424890del | CA012625 | MYH7 | c.2563_2565del (p.Glu855del) n.2669_2671del | ClinVar dbSNP |
| 14 | g.23424884T>A | CA389048143 | MYH7 | c.2564A>T (p.Glu855Val) n.2670A>T | |
| 14 | g.23424884T>C | CA389048144 | MYH7 | c.2564A>G (p.Glu855Gly) n.2670A>G | |
| 14 | g.23424884T>G | CA389048145 | MYH7 | c.2564A>C (p.Glu855Ala) n.2670A>C | |
| 14 | g.23424884_23424885insTTGAGG | CA2624227995 | MYH7 | c.2563_2564insCCTCAA (p.Glu855delinsAlaSerLys) n.2669_2670insCCTCAA | gnomAD v4 |
| 14 | g.23424885C>A | CA389048146 | MYH7 | c.2563G>T (p.Glu855Ter) n.2669G>T | |
| 14 | g.23424885C>G | CA389048147 | MYH7 | c.2563G>C (p.Glu855Gln) n.2669G>C | |
| 14 | g.23424885C>T | CA389048148 | MYH7 | c.2563G>A (p.Glu855Lys) n.2669G>A | |
| 14 | g.23424886C>A | CA389048149 | MYH7 | c.2562G>T (p.Glu854Asp) n.2668G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23424886C= | CA2123456076 | MYH7 | c.2562G= (p.Glu854=) n.2668G= | |
| 14 | g.23424886C>G | CA389048150 | MYH7 | c.2562G>C (p.Glu854Asp) n.2668G>C | gnomAD v4 |
| 14 | g.23424886C>T | CA033218 | MYH7 | c.2562G>A (p.Glu854=) n.2668G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424887T>A | CA389048152 | MYH7 | c.2561A>T (p.Glu854Val) n.2667A>T | |
| 14 | g.23424887T>C | CA389048151 | MYH7 | c.2561A>G (p.Glu854Gly) n.2667A>G | dbSNP |
| 14 | g.23424887T>G | CA033204 | MYH7 | c.2561A>C (p.Glu854Ala) n.2667A>C | dbSNP ExAC |
| 14 | g.23424887T= | CA2123456078 | MYH7 | c.2561A= (p.Glu854=) n.2667A= | |
| 14 | g.23424888C>A | CA389048153 | MYH7 | c.2560G>T (p.Glu854Ter) n.2666G>T | |
| 14 | g.23424888C= | CA2123456081 | MYH7 | c.2560G= (p.Glu854=) n.2666G= | |
| 14 | g.23424888C>G | CA389048155 | MYH7 | c.2560G>C (p.Glu854Gln) n.2666G>C | COSMIC |
| 14 | g.23424888C>T | CA389048154 | MYH7 | c.2560G>A (p.Glu854Lys) n.2666G>A | ClinVar dbSNP |
| 14 | g.23424889C>A | CA389048156 | MYH7 | c.2559G>T (p.Lys853Asn) n.2665G>T | |
| 14 | g.23424889C>G | CA389048157 | MYH7 | c.2559G>C (p.Lys853Asn) n.2665G>C | |
| 14 | g.23424889C>T | CA501235 | MYH7 | c.2559G>A (p.Lys853=) n.2665G>A | COSMIC |
| 14 | g.23424890T>A | CA389048158 | MYH7 | c.2558A>T (p.Lys853Met) n.2664A>T | |
| 14 | g.23424890T>C | CA389048160 | MYH7 | c.2558A>G (p.Lys853Arg) n.2664A>G | |
| 14 | g.23424890T>G | CA389048159 | MYH7 | c.2558A>C (p.Lys853Thr) n.2664A>C | |
| 14 | g.23424891T>A | CA389048161 | MYH7 | c.2557A>T (p.Lys853Ter) n.2663A>T | dbSNP |
| 14 | g.23424891T>C | CA389048162 | MYH7 | c.2557A>G (p.Lys853Glu) n.2663A>G | |
| 14 | g.23424891T>G | CA389048163 | MYH7 | c.2557A>C (p.Lys853Gln) n.2663A>C | |
| 14 | g.23424891T= | CA2123456083 | MYH7 | c.2557A= (p.Lys853=) n.2663A= | |
| 14 | g.23424892C>A | CA389048164 | MYH7 | c.2556G>T (p.Met852Ile) n.2662G>T | |
| 14 | g.23424892C= | CA2123456086 | MYH7 | c.2556G= (p.Met852=) n.2662G= | |
| 14 | g.23424892C>G | CA389048165 | MYH7 | c.2556G>C (p.Met852Ile) n.2662G>C | |
| 14 | g.23424892C>T | CA389048166 | MYH7 | c.2556G>A (p.Met852Ile) n.2662G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424893A= | CA2123456098 | MYH7 | c.2555T= (p.Met852=) n.2661T= | |
| 14 | g.23424893A>C | CA389048167 | MYH7 | c.2555T>G (p.Met852Arg) n.2661T>G | ClinVar dbSNP |
| 14 | g.23424893A>G | CA012623 | MYH7 | c.2555T>C (p.Met852Thr) n.2661T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424893A>T | CA012614 | MYH7 | c.2555T>A (p.Met852Lys) n.2661T>A | ClinVar dbSNP |
| 14 | g.23424894T>A | CA389048168 | MYH7 | c.2554A>T (p.Met852Leu) n.2660A>T | ClinVar dbSNP |
| 14 | g.23424894T>C | CA389048169 | MYH7 | c.2554A>G (p.Met852Val) n.2660A>G | ClinVar |
| 14 | g.23424894T>G | CA389048170 | MYH7 | c.2554A>C (p.Met852Leu) n.2660A>C | |
| 14 | g.23424894T= | CA2123456110 | MYH7 | c.2554A= (p.Met852=) n.2660A= | |
| 14 | g.23424894dup | CA613317730 | MYH7 | c.2554dup (p.Met852AsnfsTer?) n.2660dup | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424895G>A | CA485767151 | MYH7 | c.2553C>T (p.Ser851=) n.2659C>T | |
| 14 | g.23424895G>C | CA485767146 | MYH7 | c.2553C>G (p.Ser851=) n.2659C>G | |
| 14 | g.23424895G= | CA2123456119 | MYH7 | c.2553C= (p.Ser851=) n.2659C= | |
| 14 | g.23424895G>T | CA012605 | MYH7 | c.2553C>A (p.Ser851=) n.2659C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424896G>A | CA389048171 | MYH7 | c.2552C>T (p.Ser851Phe) n.2658C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424896G>C | CA389048173 | MYH7 | c.2552C>G (p.Ser851Cys) n.2658C>G | |
| 14 | g.23424896G= | CA2123456128 | MYH7 | c.2552C= (p.Ser851=) n.2658C= | |
| 14 | g.23424896G>T | CA389048172 | MYH7 | c.2552C>A (p.Ser851Tyr) n.2658C>A | |
| 14 | g.23424897A>C | CA389048174 | MYH7 | c.2551T>G (p.Ser851Ala) n.2657T>G | |
| 14 | g.23424897A>G | CA389048175 | MYH7 | c.2551T>C (p.Ser851Pro) n.2657T>C | |
| 14 | g.23424897A>T | CA389048176 | MYH7 | c.2551T>A (p.Ser851Thr) n.2657T>A | ClinVar dbSNP |
| 14 | g.23424898G>A | CA485767153 | MYH7 | c.2550C>T (p.Ala850=) n.2656C>T | ClinVar dbSNP |
| 14 | g.23424898G>C | CA485767155 | MYH7 | c.2550C>G (p.Ala850=) n.2656C>G | |
| 14 | g.23424898G= | CA2123456134 | MYH7 | c.2550C= (p.Ala850=) n.2656C= | |
| 14 | g.23424898G>T | CA485767157 | MYH7 | c.2550C>A (p.Ala850=) n.2656C>A | |
| 14 | g.23424899G>A | CA389048177 | MYH7 | c.2549C>T (p.Ala850Val) n.2655C>T | |
| 14 | g.23424899G>C | CA389048178 | MYH7 | c.2549C>G (p.Ala850Gly) n.2655C>G | ClinVar |
| 14 | g.23424899G= | CA2123456137 | MYH7 | c.2549C= (p.Ala850=) n.2655C= | |
| 14 | g.23424899G>T | CA389048179 | MYH7 | c.2549C>A (p.Ala850Asp) n.2655C>A | dbSNP |
| 14 | g.23424899_23424907del | CA913184863 | MYH7 | c.2541_2549del (p.Lys847_Ala850delinsAsn) n.2647_2655del | |
| 14 | g.23424900C>A | CA389048180 | MYH7 | c.2548G>T (p.Ala850Ser) n.2654G>T | |
| 14 | g.23424900C= | CA2123456145 | MYH7 | c.2548G= (p.Ala850=) n.2654G= | |
| 14 | g.23424900C>G | CA389048181 | MYH7 | c.2548G>C (p.Ala850Pro) n.2654G>C | |
| 14 | g.23424900C>T | CA16609767 | MYH7 | c.2548G>A (p.Ala850Thr) n.2654G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424901C>A | CA389048184 | MYH7 | c.2547G>T (p.Met849Ile) n.2653G>T | |
| 14 | g.23424901C= | CA2123456152 | MYH7 | c.2547G= (p.Met849=) n.2653G= | |
| 14 | g.23424901C>G | CA389048183 | MYH7 | c.2547G>C (p.Met849Ile) n.2653G>C | |
| 14 | g.23424901C>T | CA389048182 | MYH7 | c.2547G>A (p.Met849Ile) n.2653G>A | dbSNP gnomAD v4 |
| 14 | g.23424902del | CA2624228040 | MYH7 | c.2546del (p.Met849ArgfsTer4) n.2652del | gnomAD v4 |
| 14 | g.23424902A= | CA2123456155 | MYH7 | c.2546T= (p.Met849=) n.2652T= | |
| 14 | g.23424902A>C | CA389048185 | MYH7 | c.2546T>G (p.Met849Arg) n.2652T>G | |
| 14 | g.23424902A>G | CA012599 | MYH7 | c.2546T>C (p.Met849Thr) n.2652T>C | ClinVar dbSNP |
| 14 | g.23424902A>T | CA389048186 | MYH7 | c.2546T>A (p.Met849Lys) n.2652T>A | |
| 14 | g.23424903T>A | CA389048187 | MYH7 | c.2545A>T (p.Met849Leu) n.2651A>T | gnomAD v4 |
| 14 | g.23424903T>C | CA389048188 | MYH7 | c.2545A>G (p.Met849Val) n.2651A>G | |
| 14 | g.23424903T>G | CA389048189 | MYH7 | c.2545A>C (p.Met849Leu) n.2651A>C | |
| 14 | g.23424903_23424906delinsTCTC | CA2123456158 | MYH7 | c.2542_2545delinsGAGA (p.Glu848=) n.2648_2651delinsGAGA | |
| 14 | g.23424904C>A | CA389048190 | MYH7 | c.2544G>T (p.Glu848Asp) n.2650G>T | |
| 14 | g.23424904C= | CA2123456162 | MYH7 | c.2544G= (p.Glu848=) n.2650G= | |
| 14 | g.23424904C>G | CA012594 | MYH7 | c.2544G>C (p.Glu848Asp) n.2650G>C | ClinVar dbSNP COSMIC |
| 14 | g.23424904C>T | CA485767179 | MYH7 | c.2544G>A (p.Glu848=) n.2650G>A | |
| 14 | g.23424906_23424908del | CA279274 | MYH7 | c.2542_2544del (p.Glu848del) n.2648_2650del | ClinVar dbSNP |