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.23424818_23424821delinsATCT | CA2123455830 | MYH7 | c.2627_2630delinsAGAT (p.Lys876=) n.2733_2736delinsAGAT | |
14 | g.23424822_23424824del | CA012760 | MYH7 | c.2627_2629del (p.Lys876del) n.2733_2735del | ClinVar dbSNP |
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 |