| 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.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 |