Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.171636396C>A | CA343724940 | MYOC,MYOCOS | c.1044G>T (p.Glu348Asp) c.235-2234C>A (n.235-2234C>A) c.*382G>T (n.*382G>T) c.*8G>T (n.*8G>T) | |
1 | g.171636396C>G | CA343724941 | MYOC,MYOCOS | c.1044G>C (p.Glu348Asp) c.235-2234C>G (n.235-2234C>G) c.*382G>C (n.*382G>C) c.*8G>C (n.*8G>C) | |
1 | g.171636396C>T | CA421938558 | MYOC,MYOCOS | c.1044G>A (p.Glu348=) c.235-2234C>T (n.235-2234C>T) c.*382G>A (n.*382G>A) c.*8G>A (n.*8G>A) | |
1 | g.171636397T>A | CA343724943 | MYOC,MYOCOS | c.1043A>T (p.Glu348Val) c.235-2233T>A (n.235-2233T>A) c.*381A>T (n.*381A>T) c.*7A>T (n.*7A>T) | |
1 | g.171636397T>C | CA343724945 | MYOC,MYOCOS | c.1043A>G (p.Glu348Gly) c.235-2233T>C (n.235-2233T>C) c.*381A>G (n.*381A>G) c.*7A>G (n.*7A>G) | |
1 | g.171636397T>G | CA343724947 | MYOC,MYOCOS | c.1043A>C (p.Glu348Ala) c.235-2233T>G (n.235-2233T>G) c.*381A>C (n.*381A>C) c.*7A>C (n.*7A>C) | |
1 | g.171636398C>A | CA343724949 | MYOC,MYOCOS | c.1042G>T (p.Glu348Ter) c.235-2232C>A (n.235-2232C>A) c.*380G>T (n.*380G>T) c.*6G>T (n.*6G>T) | |
1 | g.171636398C>G | CA343724951 | MYOC,MYOCOS | c.1042G>C (p.Glu348Gln) c.235-2232C>G (n.235-2232C>G) c.*380G>C (n.*380G>C) c.*6G>C (n.*6G>C) | |
1 | g.171636398C>T | CA343724953 | MYOC,MYOCOS | c.1042G>A (p.Glu348Lys) c.235-2232C>T (n.235-2232C>T) c.*380G>A (n.*380G>A) c.*6G>A (n.*6G>A) | |
1 | g.171636399A= | CA1140725207 | MYOC,MYOCOS | c.1041T= (p.Tyr347=) c.235-2231A= (n.235-2231A=) c.*379T= (n.*379T=) c.*5T= (n.*5T=) | |
1 | g.171636399A>C | CA1244092 | MYOC,MYOCOS | c.1041T>G (p.Tyr347Ter) c.235-2231A>C (n.235-2231A>C) c.*379T>G (n.*379T>G) c.*5T>G (n.*5T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636399A>G | CA1244091 | MYOC,MYOCOS | c.1041T>C (p.Tyr347=) c.235-2231A>G (n.235-2231A>G) c.*379T>C (n.*379T>C) c.*5T>C (n.*5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636399A>T | CA343724955 | MYOC,MYOCOS | c.1041T>A (p.Tyr347Ter) c.235-2231A>T (n.235-2231A>T) c.*379T>A (n.*379T>A) c.*5T>A (n.*5T>A) | |
1 | g.171636400T>A | CA343724959 | MYOC,MYOCOS | c.1040A>T (p.Tyr347Phe) c.235-2230T>A (n.235-2230T>A) c.*378A>T (n.*378A>T) c.*4A>T (n.*4A>T) | |
1 | g.171636400T>C | CA343724960 | MYOC,MYOCOS | c.1040A>G (p.Tyr347Cys) c.235-2230T>C (n.235-2230T>C) c.*378A>G (n.*378A>G) c.*4A>G (n.*4A>G) | |
1 | g.171636400T>G | CA343724961 | MYOC,MYOCOS | c.1040A>C (p.Tyr347Ser) c.235-2230T>G (n.235-2230T>G) c.*378A>C (n.*378A>C) c.*4A>C (n.*4A>C) | |
1 | g.171636401A>C | CA343724963 | MYOC,MYOCOS | c.1039T>G (p.Tyr347Asp) c.235-2229A>C (n.235-2229A>C) c.*377T>G (n.*377T>G) c.*3T>G (n.*3T>G) | |
1 | g.171636401A>G | CA343724965 | MYOC,MYOCOS | c.1039T>C (p.Tyr347His) c.235-2229A>G (n.235-2229A>G) c.*377T>C (n.*377T>C) c.*3T>C (n.*3T>C) | |
1 | g.171636401A>T | CA343724967 | MYOC,MYOCOS | c.1039T>A (p.Tyr347Asn) c.235-2229A>T (n.235-2229A>T) c.*377T>A (n.*377T>A) c.*3T>A (n.*3T>A) | |
1 | g.171636402T>A | CA343724971 | MYOC,MYOCOS | c.1038A>T (p.Arg346Ser) c.235-2228T>A (n.235-2228T>A) c.*376A>T (n.*376A>T) c.*2A>T (n.*2A>T) | |
1 | g.171636402T>C | CA421938559 | MYOC,MYOCOS | c.1038A>G (p.Arg346=) c.235-2228T>C (n.235-2228T>C) c.*376A>G (n.*376A>G) c.*2A>G (n.*2A>G) | |
1 | g.171636402T>G | CA343724969 | MYOC,MYOCOS | c.1038A>C (p.Arg346Ser) c.235-2228T>G (n.235-2228T>G) c.*376A>C (n.*376A>C) c.*2A>C (n.*2A>C) | |
1 | g.171636403C>A | CA343724973 | MYOC,MYOCOS | c.1037G>T (p.Arg346Ile) c.235-2227C>A (n.235-2227C>A) c.*375G>T (n.*375G>T) c.*1G>T (n.*1G>T) | dbSNP |
1 | g.171636403C= | CA1207016834 | MYOC,MYOCOS | c.1037G= (p.Arg346=) c.235-2227C= (n.235-2227C=) c.*375G= (n.*375G=) c.*1G= (n.*1G=) | |
1 | g.171636403C>G | CA343724974 | MYOC,MYOCOS | c.1037G>C (p.Arg346Thr) c.235-2227C>G (n.235-2227C>G) c.*375G>C (n.*375G>C) c.*1G>C (n.*1G>C) | ClinVar gnomAD v4 |
1 | g.171636403C>T | CA343724976 | MYOC,MYOCOS | c.1037G>A (p.Arg346Lys) c.235-2227C>T (n.235-2227C>T) c.*375G>A (n.*375G>A) c.*1G>A (n.*1G>A) | COSMIC |
1 | g.171636404T>A | CA343724978 | MYOC,MYOCOS | c.1036A>T (p.Arg346Ter) c.235-2226T>A (n.235-2226T>A) c.*374A>T (n.*374A>T) c.1035A>T (p.Ter345Tyr) | |
1 | g.171636404T>C | CA343724980 | MYOC,MYOCOS | c.1036A>G (p.Arg346Gly) c.235-2226T>C (n.235-2226T>C) c.*374A>G (n.*374A>G) c.1035A>G (p.Ter345=) | |
1 | g.171636404T>G | CA343724981 | MYOC,MYOCOS | c.1036A>C (p.Arg346=) c.235-2226T>G (n.235-2226T>G) c.*374A>C (n.*374A>C) c.1035A>C (p.Ter345Tyr) | |
1 | g.171636405T>A | CA343724984 | MYOC,MYOCOS | c.1035A>T (p.Ile345=) c.235-2225T>A (n.235-2225T>A) c.*373A>T (n.*373A>T) c.1034A>T (p.Ter345Leu) | |
1 | g.171636405T>C | CA343724987 | MYOC,MYOCOS | c.1035A>G (p.Ile345Met) c.235-2225T>C (n.235-2225T>C) c.*373A>G (n.*373A>G) c.1034A>G (p.Ter345=) | ClinVar |
1 | g.171636405T>G | CA343724986 | MYOC,MYOCOS | c.1035A>C (p.Ile345=) c.235-2225T>G (n.235-2225T>G) c.*373A>C (n.*373A>C) c.1034A>C (p.Ter345Ser) | |
1 | g.171636406A= | CA1207016835 | MYOC,MYOCOS | c.1034T= (p.Ile345=) c.235-2224A= (n.235-2224A=) c.*372T= (n.*372T=) c.1033T= (p.Ter345=) | |
1 | g.171636406A>C | CA343724990 | MYOC,MYOCOS | c.1034T>G (p.Ile345Arg) c.235-2224A>C (n.235-2224A>C) c.*372T>G (n.*372T>G) c.1033T>G (p.Ter345Glu) | |
1 | g.171636406A>G | CA343724992 | MYOC,MYOCOS | c.1034T>C (p.Ile345Thr) c.235-2224A>G (n.235-2224A>G) c.*372T>C (n.*372T>C) c.1033T>C (p.Ter345Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.171636406A>T | CA343724993 | MYOC,MYOCOS | c.1034T>A (p.Ile345Lys) c.235-2224A>T (n.235-2224A>T) c.*372T>A (n.*372T>A) c.1033T>A (p.Ter345Lys) | |
1 | g.171636407T>A | CA343724996 | MYOC,MYOCOS | c.1033A>T (p.Ile345Leu) c.235-2223T>A (n.235-2223T>A) c.*371A>T (n.*371A>T) c.1032A>T (p.Ser344=) | |
1 | g.171636407T>C | CA343724997 | MYOC,MYOCOS | c.1033A>G (p.Ile345Val) c.235-2223T>C (n.235-2223T>C) c.*371A>G (n.*371A>G) c.1032A>G (p.Ser344=) | gnomAD v4 |
1 | g.171636407T>G | CA343724999 | MYOC,MYOCOS | c.1033A>C (p.Ile345Leu) c.235-2223T>G (n.235-2223T>G) c.*371A>C (n.*371A>C) c.1032A>C (p.Ser344=) | |
1 | g.171636408G>A | CA343725001 | MYOC,MYOCOS | c.1032C>T (p.Val344=) c.235-2222G>A (n.235-2222G>A) c.*370C>T (n.*370C>T) c.1031C>T (p.Ser344Leu) | |
1 | g.171636408G>C | CA343725002 | MYOC,MYOCOS | c.1032C>G (p.Val344=) c.235-2222G>C (n.235-2222G>C) c.*370C>G (n.*370C>G) c.1031C>G (p.Ser344Ter) | |
1 | g.171636408G= | CA1207016836 | MYOC,MYOCOS | c.1032C= (p.Val344=) c.235-2222G= (n.235-2222G=) c.*370C= (n.*370C=) c.1031C= (p.Ser344=) | |
1 | g.171636408G>T | CA343725003 | MYOC,MYOCOS | c.1032C>A (p.Val344=) c.235-2222G>T (n.235-2222G>T) c.*370C>A (n.*370C>A) c.1031C>A (p.Ser344Ter) | |
1 | g.171636408_171636409insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC | CA2746620399 | MYOC,MYOCOS | c.1031_1032insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (p.Ile345AlafsTer30) c.235-2222_235-2221insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC (n.235-2222_235-2221insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC) c.*369_*370insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (n.*369_*370insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC) c.1030_1031insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (p.Ser344TrpfsTer21) | |
1 | g.171636409A>C | CA343725005 | MYOC,MYOCOS | c.1031T>G (p.Val344Gly) c.235-2221A>C (n.235-2221A>C) c.*369T>G (n.*369T>G) c.1030T>G (p.Ser344Ala) | |
1 | g.171636409A>G | CA343725006 | MYOC,MYOCOS | c.1031T>C (p.Val344Ala) c.235-2221A>G (n.235-2221A>G) c.*369T>C (n.*369T>C) c.1030T>C (p.Ser344Pro) | |
1 | g.171636409A>T | CA343725008 | MYOC,MYOCOS | c.1031T>A (p.Val344Asp) c.235-2221A>T (n.235-2221A>T) c.*369T>A (n.*369T>A) c.1030T>A (p.Ser344Thr) | |
1 | g.171636410_171636411dup | CA1207016837 | MYOC,MYOCOS | c.1030_1031dup (p.Ile345SerfsTer2) c.235-2220_235-2219dup (n.235-2220_235-2219dup) c.*368_*369dup (n.*368_*369dup) c.1029_1030dup (p.Ser344CysfsTer5) | dbSNP |
1 | g.171636410C>A | CA343725013 | MYOC,MYOCOS | c.1030G>T (p.Val344Phe) c.235-2220C>A (n.235-2220C>A) c.*368G>T (n.*368G>T) c.1029G>T (p.Leu343=) | |
1 | g.171636410C>G | CA343725012 | MYOC,MYOCOS | c.1030G>C (p.Val344Leu) c.235-2220C>G (n.235-2220C>G) c.*368G>C (n.*368G>C) c.1029G>C (p.Leu343=) | |
1 | g.171636410C>T | CA343725011 | MYOC,MYOCOS | c.1030G>A (p.Val344Ile) c.235-2220C>T (n.235-2220C>T) c.*368G>A (n.*368G>A) c.1029G>A (p.Leu343=) | |
1 | g.171636411A>C | CA343725015 | MYOC,MYOCOS | c.1029T>G (p.Thr343=) c.235-2219A>C (n.235-2219A>C) c.*367T>G (n.*367T>G) c.1028T>G (p.Leu343Arg) | |
1 | g.171636411A>G | CA343725018 | MYOC,MYOCOS | c.1029T>C (p.Thr343=) c.235-2219A>G (n.235-2219A>G) c.*367T>C (n.*367T>C) c.1028T>C (p.Leu343Pro) | gnomAD v4 |
1 | g.171636411A>T | CA343725017 | MYOC,MYOCOS | c.1029T>A (p.Thr343=) c.235-2219A>T (n.235-2219A>T) c.*367T>A (n.*367T>A) c.1028T>A (p.Leu343Gln) | |
1 | g.171636412G>A | CA343725020 | MYOC,MYOCOS | c.1028C>T (p.Thr343Ile) c.235-2218G>A (n.235-2218G>A) c.*366C>T (n.*366C>T) c.1027C>T (p.Leu343=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.171636412G>C | CA343725022 | MYOC,MYOCOS | c.1028C>G (p.Thr343Ser) c.235-2218G>C (n.235-2218G>C) c.*366C>G (n.*366C>G) c.1027C>G (p.Leu343Val) | |
1 | g.171636412G= | CA1207016838 | MYOC,MYOCOS | c.1028C= (p.Thr343=) c.235-2218G= (n.235-2218G=) c.*366C= (n.*366C=) c.1027C= (p.Leu343=) | |
1 | g.171636412G>T | CA343725024 | MYOC,MYOCOS | c.1028C>A (p.Thr343Asn) c.235-2218G>T (n.235-2218G>T) c.*366C>A (n.*366C>A) c.1027C>A (p.Leu343Met) | ClinVar |
1 | g.171636413T>A | CA343725026 | MYOC,MYOCOS | c.1027A>T (p.Thr343Ser) c.235-2217T>A (n.235-2217T>A) c.*365A>T (n.*365A>T) c.1026A>T (p.Glu342Asp) | gnomAD v4 |
1 | g.171636413T>C | CA343725028 | MYOC,MYOCOS | c.1027A>G (p.Thr343Ala) c.235-2217T>C (n.235-2217T>C) c.*365A>G (n.*365A>G) c.1026A>G (p.Glu342=) | |
1 | g.171636413T>G | CA343725029 | MYOC,MYOCOS | c.1027A>C (p.Thr343Pro) c.235-2217T>G (n.235-2217T>G) c.*365A>C (n.*365A>C) c.1026A>C (p.Glu342Asp) | |
1 | g.171636414T>A | CA343725033 | MYOC,MYOCOS | c.1026A>T (p.Arg342Ser) c.235-2216T>A (n.235-2216T>A) c.*364A>T (n.*364A>T) c.1025A>T (p.Glu342Val) | |
1 | g.171636414T>C | CA343725034 | MYOC,MYOCOS | c.1026A>G (p.Arg342=) c.235-2216T>C (n.235-2216T>C) c.*364A>G (n.*364A>G) c.1025A>G (p.Glu342Gly) | |
1 | g.171636414T>G | CA343725036 | MYOC,MYOCOS | c.1026A>C (p.Arg342Ser) c.235-2216T>G (n.235-2216T>G) c.*364A>C (n.*364A>C) c.1025A>C (p.Glu342Ala) | |
1 | g.171636415C>A | CA343725039 | MYOC,MYOCOS | c.1025G>T (p.Arg342Ile) c.235-2215C>A (n.235-2215C>A) c.*363G>T (n.*363G>T) c.1024G>T (p.Glu342Ter) | |
1 | g.171636415C>G | CA343725041 | MYOC,MYOCOS | c.1025G>C (p.Arg342Thr) c.235-2215C>G (n.235-2215C>G) c.*363G>C (n.*363G>C) c.1024G>C (p.Glu342Gln) | |
1 | g.171636415C>T | CA343725043 | MYOC,MYOCOS | c.1025G>A (p.Arg342Lys) c.235-2215C>T (n.235-2215C>T) c.*363G>A (n.*363G>A) c.1024G>A (p.Glu342Lys) | ClinVar gnomAD v4 |
1 | g.171636416T>A | CA343725046 | MYOC,MYOCOS | c.1024A>T (p.Arg342Ter) c.235-2214T>A (n.235-2214T>A) c.*362A>T (n.*362A>T) c.1023A>T (p.Pro341=) | gnomAD v4 |
1 | g.171636416T>C | CA1244093 | MYOC,MYOCOS | c.1024A>G (p.Arg342Gly) c.235-2214T>C (n.235-2214T>C) c.*362A>G (n.*362A>G) c.1023A>G (p.Pro341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171636416T>G | CA421938560 | MYOC,MYOCOS | c.1024A>C (p.Arg342=) c.235-2214T>G (n.235-2214T>G) c.*362A>C (n.*362A>C) c.1023A>C (p.Pro341=) | |
1 | g.171636416T= | CA1207016839 | MYOC,MYOCOS | c.1024A= (p.Arg342=) c.235-2214T= (n.235-2214T=) c.*362A= (n.*362A=) c.1023A= (p.Pro341=) | |
1 | g.171636417G>A | CA343725047 | MYOC,MYOCOS | c.1023C>T (p.Ser341=) c.235-2213G>A (n.235-2213G>A) c.*361C>T (n.*361C>T) c.1022C>T (p.Pro341Leu) | |
1 | g.171636417G>C | CA343725049 | MYOC,MYOCOS | c.1023C>G (p.Ser341=) c.235-2213G>C (n.235-2213G>C) c.*361C>G (n.*361C>G) c.1022C>G (p.Pro341Arg) | |
1 | g.171636417G>T | CA343725050 | MYOC,MYOCOS | c.1023C>A (p.Ser341=) c.235-2213G>T (n.235-2213G>T) c.*361C>A (n.*361C>A) c.1022C>A (p.Pro341Gln) | |
1 | g.171636418G>A | CA343725052 | MYOC,MYOCOS | c.1022C>T (p.Ser341Phe) c.235-2212G>A (n.235-2212G>A) c.*360C>T (n.*360C>T) c.1021C>T (p.Pro341Ser) | gnomAD v4 |
1 | g.171636418G>C | CA343725054 | MYOC,MYOCOS | c.1022C>G (p.Ser341Cys) c.235-2212G>C (n.235-2212G>C) c.*360C>G (n.*360C>G) c.1021C>G (p.Pro341Ala) | |
1 | g.171636418G>T | CA343725056 | MYOC,MYOCOS | c.1022C>A (p.Ser341Tyr) c.235-2212G>T (n.235-2212G>T) c.*360C>A (n.*360C>A) c.1021C>A (p.Pro341Thr) | gnomAD v4 |
1 | g.171636419A= | CA1207016840 | MYOC,MYOCOS | c.1021T= (p.Ser341=) c.235-2211A= (n.235-2211A=) c.*359T= (n.*359T=) c.1020T= (p.Ser340=) | |
1 | g.171636419A>C | CA343725058 | MYOC,MYOCOS | c.1021T>G (p.Ser341Ala) c.235-2211A>C (n.235-2211A>C) c.*359T>G (n.*359T>G) c.1020T>G (p.Ser340Arg) | gnomAD v4 |
1 | g.171636419A>G | CA343725060 | MYOC,MYOCOS | c.1021T>C (p.Ser341Pro) c.235-2211A>G (n.235-2211A>G) c.*359T>C (n.*359T>C) c.1020T>C (p.Ser340=) | ClinVar dbSNP |
1 | g.171636419A>T | CA343725061 | MYOC,MYOCOS | c.1021T>A (p.Ser341Thr) c.235-2211A>T (n.235-2211A>T) c.*359T>A (n.*359T>A) c.1020T>A (p.Ser340Arg) | |
1 | g.171636420C>A | CA343725063 | MYOC,MYOCOS | c.1020G>T (p.Glu340Asp) c.235-2210C>A (n.235-2210C>A) c.*358G>T (n.*358G>T) c.1019G>T (p.Ser340Ile) | |
1 | g.171636420C= | CA1144810132 | MYOC,MYOCOS | c.1020G= (p.Glu340=) c.235-2210C= (n.235-2210C=) c.*358G= (n.*358G=) c.1019G= (p.Ser340=) | |
1 | g.171636420C>G | CA343725065 | MYOC,MYOCOS | c.1020G>C (p.Glu340Asp) c.235-2210C>G (n.235-2210C>G) c.*358G>C (n.*358G>C) c.1019G>C (p.Ser340Thr) | |
1 | g.171636420C>T | CA1244094 | MYOC,MYOCOS | c.1020G>A (p.Glu340=) c.235-2210C>T (n.235-2210C>T) c.*358G>A (n.*358G>A) c.1019G>A (p.Ser340Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636421T>A | CA343725073 | MYOC,MYOCOS | c.1019A>T (p.Glu340Val) c.235-2209T>A (n.235-2209T>A) c.*357A>T (n.*357A>T) c.1018A>T (p.Ser340Cys) | |
1 | g.171636421T>C | CA343725071 | MYOC,MYOCOS | c.1019A>G (p.Glu340Gly) c.235-2209T>C (n.235-2209T>C) c.*357A>G (n.*357A>G) c.1018A>G (p.Ser340Gly) | |
1 | g.171636421T>G | CA343725070 | MYOC,MYOCOS | c.1019A>C (p.Glu340Ala) c.235-2209T>G (n.235-2209T>G) c.*357A>C (n.*357A>C) c.1018A>C (p.Ser340Arg) | |
1 | g.171636422C>A | CA343725078 | MYOC,MYOCOS | c.1018G>T (p.Glu340Ter) c.235-2208C>A (n.235-2208C>A) c.*356G>T (n.*356G>T) c.1017G>T (p.Leu339=) | |
1 | g.171636422C= | CA1207016841 | MYOC,MYOCOS | c.1018G= (p.Glu340=) c.235-2208C= (n.235-2208C=) c.*356G= (n.*356G=) c.1017G= (p.Leu339=) | |
1 | g.171636422C>G | CA343725075 | MYOC,MYOCOS | c.1018G>C (p.Glu340Gln) c.235-2208C>G (n.235-2208C>G) c.*356G>C (n.*356G>C) c.1017G>C (p.Leu339=) | |
1 | g.171636422C>T | CA343725076 | MYOC,MYOCOS | c.1018G>A (p.Glu340Lys) c.235-2208C>T (n.235-2208C>T) c.*356G>A (n.*356G>A) c.1017G>A (p.Leu339=) | dbSNP |
1 | g.171636423A>C | CA343725081 | MYOC,MYOCOS | c.1017T>G (p.Ala339=) c.235-2207A>C (n.235-2207A>C) c.*355T>G (n.*355T>G) c.1016T>G (p.Leu339Arg) | |
1 | g.171636423A>G | CA343725082 | MYOC,MYOCOS | c.1017T>C (p.Ala339=) c.235-2207A>G (n.235-2207A>G) c.*355T>C (n.*355T>C) c.1016T>C (p.Leu339Pro) | gnomAD v4 |
1 | g.171636423A>T | CA343725083 | MYOC,MYOCOS | c.1017T>A (p.Ala339=) c.235-2207A>T (n.235-2207A>T) c.*355T>A (n.*355T>A) c.1016T>A (p.Leu339Gln) | |
1 | g.171636424G>A | CA343725089 | MYOC,MYOCOS | c.1016C>T (p.Ala339Val) c.235-2206G>A (n.235-2206G>A) c.*354C>T (n.*354C>T) c.1015C>T (p.Leu339=) | |
1 | g.171636424G>C | CA343725088 | MYOC,MYOCOS | c.1016C>G (p.Ala339Gly) c.235-2206G>C (n.235-2206G>C) c.*354C>G (n.*354C>G) c.1015C>G (p.Leu339Val) | |
1 | g.171636424G>T | CA343725086 | MYOC,MYOCOS | c.1016C>A (p.Ala339Asp) c.235-2206G>T (n.235-2206G>T) c.*354C>A (n.*354C>A) c.1015C>A (p.Leu339Met) | |
1 | g.171636425C>A | CA1244096 | MYOC,MYOCOS | c.1015G>T (p.Ala339Ser) c.235-2205C>A (n.235-2205C>A) c.*353G>T (n.*353G>T) c.1014G>T (p.Ala338=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171636425C= | CA1207016842 | MYOC,MYOCOS | c.1015G= (p.Ala339=) c.235-2205C= (n.235-2205C=) c.*353G= (n.*353G=) c.1014G= (p.Ala338=) | |
1 | g.171636425C>G | CA343725093 | MYOC,MYOCOS | c.1015G>C (p.Ala339Pro) c.235-2205C>G (n.235-2205C>G) c.*353G>C (n.*353G>C) c.1014G>C (p.Ala338=) | |
1 | g.171636425C>T | CA1244095 | MYOC,MYOCOS | c.1015G>A (p.Ala339Thr) c.235-2205C>T (n.235-2205C>T) c.*353G>A (n.*353G>A) c.1014G>A (p.Ala338=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.171636426G>A | CA1244097 | MYOC,MYOCOS | c.1014C>T (p.Gly338=) c.235-2204G>A (n.235-2204G>A) c.*352C>T (n.*352C>T) c.1013C>T (p.Ala338Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.171636426G>C | CA343725097 | MYOC,MYOCOS | c.1014C>G (p.Gly338=) c.235-2204G>C (n.235-2204G>C) c.*352C>G (n.*352C>G) c.1013C>G (p.Ala338Gly) | |
1 | g.171636426G= | CA1207016843 | MYOC,MYOCOS | c.1014C= (p.Gly338=) c.235-2204G= (n.235-2204G=) c.*352C= (n.*352C=) c.1013C= (p.Ala338=) | |
1 | g.171636426G>T | CA343725099 | MYOC,MYOCOS | c.1014C>A (p.Gly338=) c.235-2204G>T (n.235-2204G>T) c.*352C>A (n.*352C>A) c.1013C>A (p.Ala338Glu) | gnomAD v4 |
1 | g.171636427C>A | CA343725101 | MYOC,MYOCOS | c.1013G>T (p.Gly338Val) c.235-2203C>A (n.235-2203C>A) c.*351G>T (n.*351G>T) c.1012G>T (p.Ala338Ser) | |
1 | g.171636427C>G | CA343725105 | MYOC,MYOCOS | c.1013G>C (p.Gly338Ala) c.235-2203C>G (n.235-2203C>G) c.*351G>C (n.*351G>C) c.1012G>C (p.Ala338Pro) | |
1 | g.171636427C>T | CA343725103 | MYOC,MYOCOS | c.1013G>A (p.Gly338Asp) c.235-2203C>T (n.235-2203C>T) c.*351G>A (n.*351G>A) c.1012G>A (p.Ala338Thr) | |
1 | g.171636428C>A | CA343725107 | MYOC,MYOCOS | c.1012G>T (p.Gly338Cys) c.235-2202C>A (n.235-2202C>A) c.*350G>T (n.*350G>T) c.1011G>T (p.Arg337Ser) | |
1 | g.171636428C>G | CA343725108 | MYOC,MYOCOS | c.1012G>C (p.Gly338Arg) c.235-2202C>G (n.235-2202C>G) c.*350G>C (n.*350G>C) c.1011G>C (p.Arg337Ser) | |
1 | g.171636428C>T | CA343725110 | MYOC,MYOCOS | c.1012G>A (p.Gly338Ser) c.235-2202C>T (n.235-2202C>T) c.*350G>A (n.*350G>A) c.1011G>A (p.Arg337=) | |
1 | g.171636429C>A | CA343725112 | MYOC,MYOCOS | c.1011G>T (p.Gln337His) c.235-2201C>A (n.235-2201C>A) c.*349G>T (n.*349G>T) c.1010G>T (p.Arg337Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.171636429C= | CA1207016844 | MYOC,MYOCOS | c.1011G= (p.Gln337=) c.235-2201C= (n.235-2201C=) c.*349G= (n.*349G=) c.1010G= (p.Arg337=) | |
1 | g.171636429C>G | CA343725114 | MYOC,MYOCOS | c.1011G>C (p.Gln337His) c.235-2201C>G (n.235-2201C>G) c.*349G>C (n.*349G>C) c.1010G>C (p.Arg337Thr) | |
1 | g.171636429C>T | CA343725115 | MYOC,MYOCOS | c.1011G>A (p.Gln337=) c.235-2201C>T (n.235-2201C>T) c.*349G>A (n.*349G>A) c.1010G>A (p.Arg337Lys) | gnomAD v4 |
1 | g.171636430T>A | CA343725117 | MYOC,MYOCOS | c.1010A>T (p.Gln337Leu) c.235-2200T>A (n.235-2200T>A) c.*348A>T (n.*348A>T) c.1009A>T (p.Arg337Trp) | |
1 | g.171636430T>C | CA119177 | MYOC,MYOCOS | c.1010A>G (p.Gln337Arg) c.235-2200T>C (n.235-2200T>C) c.*348A>G (n.*348A>G) c.1009A>G (p.Arg337Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.171636430T>G | CA343725120 | MYOC,MYOCOS | c.1010A>C (p.Gln337Pro) c.235-2200T>G (n.235-2200T>G) c.*348A>C (n.*348A>C) c.1009A>C (p.Arg337=) | |
1 | g.171636430T= | CA1140886913 | MYOC,MYOCOS | c.1010A= (p.Gln337=) c.235-2200T= (n.235-2200T=) c.*348A= (n.*348A=) c.1009A= (p.Arg337=) | |
1 | g.171636431G>A | CA343725122 | MYOC,MYOCOS | c.1009C>T (p.Gln337Ter) c.235-2199G>A (n.235-2199G>A) c.*347C>T (n.*347C>T) c.1009-1C>T (n.1009-1C>T) | |
1 | g.171636431G>C | CA343725124 | MYOC,MYOCOS | c.1009C>G (p.Gln337Glu) c.235-2199G>C (n.235-2199G>C) c.*347C>G (n.*347C>G) c.1009-1C>G (n.1009-1C>G) | ClinVar |
1 | g.171636431G>T | CA343725125 | MYOC,MYOCOS | c.1009C>A (p.Gln337Lys) c.235-2199G>T (n.235-2199G>T) c.*347C>A (n.*347C>A) c.1009-1C>A (n.1009-1C>A) | |
1 | g.171636432del | CA1139655085 | MYOC,MYOCOS | c.1009del (p.Gln337ArgfsTer9) c.235-2198del (n.235-2198del) c.*347del (n.*347del) c.1009-1del | ClinVar dbSNP |
1 | g.171636432G>A | CA343725131 | MYOC,MYOCOS | c.1008C>T (p.Phe336=) c.235-2198G>A (n.235-2198G>A) c.*346C>T (n.*346C>T) | ClinVar |
1 | g.171636432G>C | CA343725130 | MYOC,MYOCOS | c.1008C>G (p.Phe336Leu) c.235-2198G>C (n.235-2198G>C) c.*346C>G (n.*346C>G) | COSMIC |
1 | g.171636432G>T | CA343725128 | MYOC,MYOCOS | c.1008C>A (p.Phe336Leu) c.235-2198G>T (n.235-2198G>T) c.*346C>A (n.*346C>A) | |
1 | g.171636433A>C | CA343725132 | MYOC,MYOCOS | c.1007T>G (p.Phe336Cys) c.235-2197A>C (n.235-2197A>C) c.*345T>G (n.*345T>G) | |
1 | g.171636433A>G | CA343725135 | MYOC,MYOCOS | c.1007T>C (p.Phe336Ser) c.235-2197A>G (n.235-2197A>G) c.*345T>C (n.*345T>C) | |
1 | g.171636433A>T | CA343725134 | MYOC,MYOCOS | c.1007T>A (p.Phe336Tyr) c.235-2197A>T (n.235-2197A>T) c.*345T>A (n.*345T>A) | |
1 | g.171636434A= | CA1207016845 | MYOC,MYOCOS | c.1006T= (p.Phe336=) c.235-2196A= (n.235-2196A=) c.*344T= (n.*344T=) | |
1 | g.171636434A>C | CA343725137 | MYOC,MYOCOS | c.1006T>G (p.Phe336Val) c.235-2196A>C (n.235-2196A>C) c.*344T>G (n.*344T>G) | |
1 | g.171636434A>G | CA343725139 | MYOC,MYOCOS | c.1006T>C (p.Phe336Leu) c.235-2196A>G (n.235-2196A>G) c.*344T>C (n.*344T>C) | |
1 | g.171636434A>T | CA343725141 | MYOC,MYOCOS | c.1006T>A (p.Phe336Ile) c.235-2196A>T (n.235-2196A>T) c.*344T>A (n.*344T>A) | dbSNP gnomAD v4 |
1 | g.171636435A>C | CA343725143 | MYOC,MYOCOS | c.1005T>G (p.Tyr335Ter) c.235-2195A>C (n.235-2195A>C) c.*343T>G (n.*343T>G) | gnomAD v4 |
1 | g.171636435A>G | CA421938561 | MYOC,MYOCOS | c.1005T>C (p.Tyr335=) c.235-2195A>G (n.235-2195A>G) c.*343T>C (n.*343T>C) | |
1 | g.171636435A>T | CA343725145 | MYOC,MYOCOS | c.1005T>A (p.Tyr335Ter) c.235-2195A>T (n.235-2195A>T) c.*343T>A (n.*343T>A) | |
1 | g.171636436T>A | CA32685813 | MYOC,MYOCOS | c.1004A>T (p.Tyr335Phe) c.235-2194T>A (n.235-2194T>A) c.*342A>T (n.*342A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636436T>C | CA343725147 | MYOC,MYOCOS | c.1004A>G (p.Tyr335Cys) c.235-2194T>C (n.235-2194T>C) c.*342A>G (n.*342A>G) | |
1 | g.171636436T>G | CA343725148 | MYOC,MYOCOS | c.1004A>C (p.Tyr335Ser) c.235-2194T>G (n.235-2194T>G) c.*342A>C (n.*342A>C) | |
1 | g.171636436T= | CA1207016846 | MYOC,MYOCOS | c.1004A= (p.Tyr335=) c.235-2194T= (n.235-2194T=) c.*342A= (n.*342A=) | |
1 | g.171636437A>C | CA343725151 | MYOC,MYOCOS | c.1003T>G (p.Tyr335Asp) c.235-2193A>C (n.235-2193A>C) c.*341T>G (n.*341T>G) | |
1 | g.171636437A>G | CA343725153 | MYOC,MYOCOS | c.1003T>C (p.Tyr335His) c.235-2193A>G (n.235-2193A>G) c.*341T>C (n.*341T>C) | |
1 | g.171636437A>T | CA343725154 | MYOC,MYOCOS | c.1003T>A (p.Tyr335Asn) c.235-2193A>T (n.235-2193A>T) c.*341T>A (n.*341T>A) | |
1 | g.171636438G>A | CA1244098 | MYOC,MYOCOS | c.1002C>T (p.Leu334=) c.235-2192G>A (n.235-2192G>A) c.*340C>T (n.*340C>T) | dbSNP ExAC gnomAD v2 |
1 | g.171636438G>C | CA421938562 | MYOC,MYOCOS | c.1002C>G (p.Leu334=) c.235-2192G>C (n.235-2192G>C) c.*340C>G (n.*340C>G) | |
1 | g.171636438G= | CA1207016847 | MYOC,MYOCOS | c.1002C= (p.Leu334=) c.235-2192G= (n.235-2192G=) c.*340C= (n.*340C=) | |
1 | g.171636438G>T | CA421938563 | MYOC,MYOCOS | c.1002C>A (p.Leu334=) c.235-2192G>T (n.235-2192G>T) c.*340C>A (n.*340C>A) | |
1 | g.171636439A= | CA1143468502 | MYOC,MYOCOS | c.1001T= (p.Leu334=) c.235-2191A= (n.235-2191A=) c.*339T= (n.*339T=) | |
1 | g.171636439A>C | CA343725160 | MYOC,MYOCOS | c.1001T>G (p.Leu334Arg) c.235-2191A>C (n.235-2191A>C) c.*339T>G (n.*339T>G) | gnomAD v4 |
1 | g.171636439A>G | CA1244099 | MYOC,MYOCOS | c.1001T>C (p.Leu334Pro) c.235-2191A>G (n.235-2191A>G) c.*339T>C (n.*339T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636439A>T | CA343725159 | MYOC,MYOCOS | c.1001T>A (p.Leu334His) c.235-2191A>T (n.235-2191A>T) c.*339T>A (n.*339T>A) | |
1 | g.171636440G>A | CA343725163 | MYOC,MYOCOS | c.1000C>T (p.Leu334Phe) c.235-2190G>A (n.235-2190G>A) c.*338C>T (n.*338C>T) | gnomAD v4 COSMIC |
1 | g.171636440G>C | CA343725164 | MYOC,MYOCOS | c.1000C>G (p.Leu334Val) c.235-2190G>C (n.235-2190G>C) c.*338C>G (n.*338C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.171636440G= | CA1207016848 | MYOC,MYOCOS | c.1000C= (p.Leu334=) c.235-2190G= (n.235-2190G=) c.*338C= (n.*338C=) | |
1 | g.171636440G>T | CA343725166 | MYOC,MYOCOS | c.1000C>A (p.Leu334Ile) c.235-2190G>T (n.235-2190G>T) c.*338C>A (n.*338C>A) | |
1 | g.171636441G>A | CA421938565 | MYOC,MYOCOS | c.999C>T (p.Ser333=) c.235-2189G>A (n.235-2189G>A) c.*337C>T (n.*337C>T) | |
1 | g.171636441G>C | CA343725169 | MYOC,MYOCOS | c.999C>G (p.Ser333Arg) c.235-2189G>C (n.235-2189G>C) c.*337C>G (n.*337C>G) | |
1 | g.171636441G>T | CA343725170 | MYOC,MYOCOS | c.999C>A (p.Ser333Arg) c.235-2189G>T (n.235-2189G>T) c.*337C>A (n.*337C>A) | |
1 | g.171636442C>A | CA343725173 | MYOC,MYOCOS | c.998G>T (p.Ser333Ile) c.235-2188C>A (n.235-2188C>A) c.*336G>T (n.*336G>T) | |
1 | g.171636442C= | CA1148281490 | MYOC,MYOCOS | c.998G= (p.Ser333=) c.235-2188C= (n.235-2188C=) c.*336G= (n.*336G=) | |
1 | g.171636442C>G | CA343725174 | MYOC,MYOCOS | c.998G>C (p.Ser333Thr) c.235-2188C>G (n.235-2188C>G) c.*336G>C (n.*336G>C) | |
1 | g.171636442C>T | CA1244100 | MYOC,MYOCOS | c.998G>A (p.Ser333Asn) c.235-2188C>T (n.235-2188C>T) c.*336G>A (n.*336G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636443T>A | CA343725177 | MYOC,MYOCOS | c.997A>T (p.Ser333Cys) c.235-2187T>A (n.235-2187T>A) c.*335A>T (n.*335A>T) | ClinVar |
1 | g.171636443T>C | CA343725179 | MYOC,MYOCOS | c.997A>G (p.Ser333Gly) c.235-2187T>C (n.235-2187T>C) c.*335A>G (n.*335A>G) | gnomAD v4 |
1 | g.171636443T>G | CA343725180 | MYOC,MYOCOS | c.997A>C (p.Ser333Arg) c.235-2187T>G (n.235-2187T>G) c.*335A>C (n.*335A>C) | |
1 | g.171636444C>A | CA421938566 | MYOC,MYOCOS | c.996G>T (p.Gly332=) c.235-2186C>A (n.235-2186C>A) c.*334G>T (n.*334G>T) | |
1 | g.171636444C>G | CA421938567 | MYOC,MYOCOS | c.996G>C (p.Gly332=) c.235-2186C>G (n.235-2186C>G) c.*334G>C (n.*334G>C) | |
1 | g.171636444C>T | CA421938568 | MYOC,MYOCOS | c.996G>A (p.Gly332=) c.235-2186C>T (n.235-2186C>T) c.*334G>A (n.*334G>A) | COSMIC |
1 | g.171636445C>A | CA343725186 | MYOC,MYOCOS | c.995G>T (p.Gly332Val) c.235-2185C>A (n.235-2185C>A) c.*333G>T (n.*333G>T) | |
1 | g.171636445C>G | CA343725184 | MYOC,MYOCOS | c.995G>C (p.Gly332Ala) c.235-2185C>G (n.235-2185C>G) c.*333G>C (n.*333G>C) | |
1 | g.171636445C>T | CA343725182 | MYOC,MYOCOS | c.995G>A (p.Gly332Glu) c.235-2185C>T (n.235-2185C>T) c.*333G>A (n.*333G>A) | gnomAD v4 COSMIC |
1 | g.171636446C>A | CA343725190 | MYOC,MYOCOS | c.994G>T (p.Gly332Trp) c.235-2184C>A (n.235-2184C>A) c.*332G>T (n.*332G>T) | gnomAD v4 |
1 | g.171636446C>G | CA343725188 | MYOC,MYOCOS | c.994G>C (p.Gly332Arg) c.235-2184C>G (n.235-2184C>G) c.*332G>C (n.*332G>C) | gnomAD v4 |
1 | g.171636446C>T | CA343725189 | MYOC,MYOCOS | c.994G>A (p.Gly332Arg) c.235-2184C>T (n.235-2184C>T) c.*332G>A (n.*332G>A) | |
1 | g.171636447C>A | CA421938570 | MYOC,MYOCOS | c.993G>T (p.Ser331=) c.235-2183C>A (n.235-2183C>A) c.*331G>T (n.*331G>T) | COSMIC |
1 | g.171636447C= | CA1145786393 | MYOC,MYOCOS | c.993G= (p.Ser331=) c.235-2183C= (n.235-2183C=) c.*331G= (n.*331G=) | |
1 | g.171636447C>G | CA421938571 | MYOC,MYOCOS | c.993G>C (p.Ser331=) c.235-2183C>G (n.235-2183C>G) c.*331G>C (n.*331G>C) | gnomAD v4 |
1 | g.171636447C>T | CA1244101 | MYOC,MYOCOS | c.993G>A (p.Ser331=) c.235-2183C>T (n.235-2183C>T) c.*331G>A (n.*331G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.171636448G>A | CA1244102 | MYOC,MYOCOS | c.992C>T (p.Ser331Leu) c.235-2182G>A (n.235-2182G>A) c.*330C>T (n.*330C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636448G>C | CA343725191 | MYOC,MYOCOS | c.992C>G (p.Ser331Trp) c.235-2182G>C (n.235-2182G>C) c.*330C>G (n.*330C>G) | |
1 | g.171636448G= | CA1207016849 | MYOC,MYOCOS | c.992C= (p.Ser331=) c.235-2182G= (n.235-2182G=) c.*330C= (n.*330C=) | |
1 | g.171636448G>T | CA343725192 | MYOC,MYOCOS | c.992C>A (p.Ser331Ter) c.235-2182G>T (n.235-2182G>T) c.*330C>A (n.*330C>A) | |
1 | g.171636449A= | CA1141581197 | MYOC,MYOCOS | c.991T= (p.Ser331=) c.235-2181A= (n.235-2181A=) c.*329T= (n.*329T=) | |
1 | g.171636449A>C | CA343725197 | MYOC,MYOCOS | c.991T>G (p.Ser331Ala) c.235-2181A>C (n.235-2181A>C) c.*329T>G (n.*329T>G) | dbSNP |
1 | g.171636449A>G | CA343725194 | MYOC,MYOCOS | c.991T>C (p.Ser331Pro) c.235-2181A>G (n.235-2181A>G) c.*329T>C (n.*329T>C) | |
1 | g.171636449A>T | CA32685841 | MYOC,MYOCOS | c.991T>A (p.Ser331Thr) c.235-2181A>T (n.235-2181A>T) c.*329T>A (n.*329T>A) | ClinVar dbSNP |
1 | g.171636450G>A | CA421938573 | MYOC,MYOCOS | c.990C>T (p.Tyr330=) c.235-2180G>A (n.235-2180G>A) c.*328C>T (n.*328C>T) | |
1 | g.171636450G>C | CA343725199 | MYOC,MYOCOS | c.990C>G (p.Tyr330Ter) c.235-2180G>C (n.235-2180G>C) c.*328C>G (n.*328C>G) | COSMIC |
1 | g.171636450G>T | CA343725201 | MYOC,MYOCOS | c.990C>A (p.Tyr330Ter) c.235-2180G>T (n.235-2180G>T) c.*328C>A (n.*328C>A) | |
1 | g.171636451T>A | CA343725203 | MYOC,MYOCOS | c.989A>T (p.Tyr330Phe) c.235-2179T>A (n.235-2179T>A) c.*327A>T (n.*327A>T) | |
1 | g.171636451T>C | CA343725205 | MYOC,MYOCOS | c.989A>G (p.Tyr330Cys) c.235-2179T>C (n.235-2179T>C) c.*327A>G (n.*327A>G) | |
1 | g.171636451T>G | CA1244103 | MYOC,MYOCOS | c.989A>C (p.Tyr330Ser) c.235-2179T>G (n.235-2179T>G) c.*327A>C (n.*327A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636451T= | CA1149139854 | MYOC,MYOCOS | c.989A= (p.Tyr330=) c.235-2179T= (n.235-2179T=) c.*327A= (n.*327A=) | |
1 | g.171636452A= | CA1207016850 | MYOC,MYOCOS | c.988T= (p.Tyr330=) c.235-2178A= (n.235-2178A=) c.*326T= (n.*326T=) | |
1 | g.171636452A>C | CA343725209 | MYOC,MYOCOS | c.988T>G (p.Tyr330Asp) c.235-2178A>C (n.235-2178A>C) c.*326T>G (n.*326T>G) | |
1 | g.171636452A>G | CA343725214 | MYOC,MYOCOS | c.988T>C (p.Tyr330His) c.235-2178A>G (n.235-2178A>G) c.*326T>C (n.*326T>C) | |
1 | g.171636452A>T | CA343725213 | MYOC,MYOCOS | c.988T>A (p.Tyr330Asn) c.235-2178A>T (n.235-2178A>T) c.*326T>A (n.*326T>A) | |
1 | g.171636453C>A | CA421938576 | MYOC,MYOCOS | c.987G>T (p.Val329=) c.235-2177C>A (n.235-2177C>A) c.*325G>T (n.*325G>T) | |
1 | g.171636453C= | CA1207016851 | MYOC,MYOCOS | c.987G= (p.Val329=) c.235-2177C= (n.235-2177C=) c.*325G= (n.*325G=) | |
1 | g.171636453C>G | CA421938577 | MYOC,MYOCOS | c.987G>C (p.Val329=) c.235-2177C>G (n.235-2177C>G) c.*325G>C (n.*325G>C) | |
1 | g.171636453C>T | CA1244105 | MYOC,MYOCOS | c.987G>A (p.Val329=) c.235-2177C>T (n.235-2177C>T) c.*325G>A (n.*325G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636455_171636475dup | CA1244104 | MYOC,MYOCOS | c.967_987dup (p.Val329_Tyr330insGluSerThrGlyAlaValVal) c.235-2175_235-2155dup (n.235-2175_235-2155dup) c.*305_*325dup (n.*305_*325dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171636454A>C | CA343725216 | MYOC,MYOCOS | c.986T>G (p.Val329Gly) c.235-2176A>C (n.235-2176A>C) c.*324T>G (n.*324T>G) | |
1 | g.171636454A>G | CA343725218 | MYOC,MYOCOS | c.986T>C (p.Val329Ala) c.235-2176A>G (n.235-2176A>G) c.*324T>C (n.*324T>C) | |
1 | g.171636454A>T | CA343725220 | MYOC,MYOCOS | c.986T>A (p.Val329Glu) c.235-2176A>T (n.235-2176A>T) c.*324T>A (n.*324T>A) | |
1 | g.171636455C>A | CA343725222 | MYOC,MYOCOS | c.985G>T (p.Val329Leu) c.235-2175C>A (n.235-2175C>A) c.*323G>T (n.*323G>T) | |
1 | g.171636455C= | CA1142113460 | MYOC,MYOCOS | c.985G= (p.Val329=) c.235-2175C= (n.235-2175C=) c.*323G= (n.*323G=) | |
1 | g.171636455C>G | CA343725224 | MYOC,MYOCOS | c.985G>C (p.Val329Leu) c.235-2175C>G (n.235-2175C>G) c.*323G>C (n.*323G>C) | |
1 | g.171636455C>T | CA1244106 | MYOC,MYOCOS | c.985G>A (p.Val329Met) c.235-2175C>T (n.235-2175C>T) c.*323G>A (n.*323G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636456C>A | CA421938578 | MYOC,MYOCOS | c.984G>T (p.Val328=) c.235-2174C>A (n.235-2174C>A) c.*322G>T (n.*322G>T) | |
1 | g.171636456C>G | CA421938579 | MYOC,MYOCOS | c.984G>C (p.Val328=) c.235-2174C>G (n.235-2174C>G) c.*322G>C (n.*322G>C) | |
1 | g.171636456C>T | CA421938580 | MYOC,MYOCOS | c.984G>A (p.Val328=) c.235-2174C>T (n.235-2174C>T) c.*322G>A (n.*322G>A) | |
1 | g.171636457A>C | CA343725227 | MYOC,MYOCOS | c.983T>G (p.Val328Gly) c.235-2173A>C (n.235-2173A>C) c.*321T>G (n.*321T>G) | |
1 | g.171636457A>G | CA343725229 | MYOC,MYOCOS | c.983T>C (p.Val328Ala) c.235-2173A>G (n.235-2173A>G) c.*321T>C (n.*321T>C) | |
1 | g.171636457A>T | CA343725232 | MYOC,MYOCOS | c.983T>A (p.Val328Glu) c.235-2173A>T (n.235-2173A>T) c.*321T>A (n.*321T>A) | |
1 | g.171636458C>A | CA343725242 | MYOC,MYOCOS | c.982G>T (p.Val328Leu) c.235-2172C>A (n.235-2172C>A) c.*320G>T (n.*320G>T) | |
1 | g.171636458C>G | CA343725245 | MYOC,MYOCOS | c.982G>C (p.Val328Leu) c.235-2172C>G (n.235-2172C>G) c.*320G>C (n.*320G>C) | |
1 | g.171636458C>T | CA343725241 | MYOC,MYOCOS | c.982G>A (p.Val328Met) c.235-2172C>T (n.235-2172C>T) c.*320G>A (n.*320G>A) | gnomAD v4 |
1 | g.171636459A= | CA1207016852 | MYOC,MYOCOS | c.981T= (p.Ala327=) c.235-2171A= (n.235-2171A=) c.*319T= (n.*319T=) | |
1 | g.171636459A>C | CA421938582 | MYOC,MYOCOS | c.981T>G (p.Ala327=) c.235-2171A>C (n.235-2171A>C) c.*319T>G (n.*319T>G) | |
1 | g.171636459A>G | CA1244107 | MYOC,MYOCOS | c.981T>C (p.Ala327=) c.235-2171A>G (n.235-2171A>G) c.*319T>C (n.*319T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.171636459A>T | CA421938583 | MYOC,MYOCOS | c.981T>A (p.Ala327=) c.235-2171A>T (n.235-2171A>T) c.*319T>A (n.*319T>A) | |
1 | g.171636460G>A | CA343725249 | MYOC,MYOCOS | c.980C>T (p.Ala327Val) c.235-2170G>A (n.235-2170G>A) c.*318C>T (n.*318C>T) | |
1 | g.171636460G>C | CA343725250 | MYOC,MYOCOS | c.980C>G (p.Ala327Gly) c.235-2170G>C (n.235-2170G>C) c.*318C>G (n.*318C>G) | |
1 | g.171636460G>T | CA343725251 | MYOC,MYOCOS | c.980C>A (p.Ala327Asp) c.235-2170G>T (n.235-2170G>T) c.*318C>A (n.*318C>A) | gnomAD v4 |
1 | g.171636461C>A | CA343725254 | MYOC,MYOCOS | c.979G>T (p.Ala327Ser) c.235-2169C>A (n.235-2169C>A) c.*317G>T (n.*317G>T) | |
1 | g.171636461C= | CA1207016853 | MYOC,MYOCOS | c.979G= (p.Ala327=) c.235-2169C= (n.235-2169C=) c.*317G= (n.*317G=) | |
1 | g.171636461C>G | CA343725256 | MYOC,MYOCOS | c.979G>C (p.Ala327Pro) c.235-2169C>G (n.235-2169C>G) c.*317G>C (n.*317G>C) | |
1 | g.171636461C>T | CA343725257 | MYOC,MYOCOS | c.979G>A (p.Ala327Thr) c.235-2169C>T (n.235-2169C>T) c.*317G>A (n.*317G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.171636462A>C | CA421938585 | MYOC,MYOCOS | c.978T>G (p.Gly326=) c.235-2168A>C (n.235-2168A>C) c.*316T>G (n.*316T>G) | |
1 | g.171636462A>G | CA421938586 | MYOC,MYOCOS | c.978T>C (p.Gly326=) c.235-2168A>G (n.235-2168A>G) c.*316T>C (n.*316T>C) | |
1 | g.171636462A>T | CA421938587 | MYOC,MYOCOS | c.978T>A (p.Gly326=) c.235-2168A>T (n.235-2168A>T) c.*316T>A (n.*316T>A) | |
1 | g.171636463C>A | CA343725259 | MYOC,MYOCOS | c.977G>T (p.Gly326Val) c.235-2167C>A (n.235-2167C>A) c.*315G>T (n.*315G>T) | |
1 | g.171636463C= | CA1207016854 | MYOC,MYOCOS | c.977G= (p.Gly326=) c.235-2167C= (n.235-2167C=) c.*315G= (n.*315G=) | |
1 | g.171636463C>G | CA343725265 | MYOC,MYOCOS | c.977G>C (p.Gly326Ala) c.235-2167C>G (n.235-2167C>G) c.*315G>C (n.*315G>C) | |
1 | g.171636463C>T | CA343725261 | MYOC,MYOCOS | c.977G>A (p.Gly326Asp) c.235-2167C>T (n.235-2167C>T) c.*315G>A (n.*315G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.171636464C>A | CA343725267 | MYOC,MYOCOS | c.976G>T (p.Gly326Cys) c.235-2166C>A (n.235-2166C>A) c.*314G>T (n.*314G>T) | gnomAD v4 |
1 | g.171636464C= | CA1207016855 | MYOC,MYOCOS | c.976G= (p.Gly326=) c.235-2166C= (n.235-2166C=) c.*314G= (n.*314G=) | |
1 | g.171636464C>G | CA343725268 | MYOC,MYOCOS | c.976G>C (p.Gly326Arg) c.235-2166C>G (n.235-2166C>G) c.*314G>C (n.*314G>C) | ClinVar dbSNP |
1 | g.171636464C>T | CA343725270 | MYOC,MYOCOS | c.976G>A (p.Gly326Ser) c.235-2166C>T (n.235-2166C>T) c.*314G>A (n.*314G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.171636465C>A | CA421938591 | MYOC,MYOCOS | c.975G>T (p.Thr325=) c.235-2165C>A (n.235-2165C>A) c.*313G>T (n.*313G>T) | |
1 | g.171636465C= | CA1140725208 | MYOC,MYOCOS | c.975G= (p.Thr325=) c.235-2165C= (n.235-2165C=) c.*313G= (n.*313G=) | |
1 | g.171636465C>G | CA421938592 | MYOC,MYOCOS | c.975G>C (p.Thr325=) c.235-2165C>G (n.235-2165C>G) c.*313G>C (n.*313G>C) | |
1 | g.171636465C>T | CA1244108 | MYOC,MYOCOS | c.975G>A (p.Thr325=) c.235-2165C>T (n.235-2165C>T) c.*313G>A (n.*313G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.171636466G>A | CA1244109 | MYOC,MYOCOS | c.974C>T (p.Thr325Met) c.235-2164G>A (n.235-2164G>A) c.*312C>T (n.*312C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.171636466G>C | CA343725274 | MYOC,MYOCOS | c.974C>G (p.Thr325Arg) c.235-2164G>C (n.235-2164G>C) c.*312C>G (n.*312C>G) | |
1 | g.171636466G= | CA1142158959 | MYOC,MYOCOS | c.974C= (p.Thr325=) c.235-2164G= (n.235-2164G=) c.*312C= (n.*312C=) | |
1 | g.171636466G>T | CA343725276 | MYOC,MYOCOS | c.974C>A (p.Thr325Lys) c.235-2164G>T (n.235-2164G>T) c.*312C>A (n.*312C>A) | |
1 | g.171636467T>A | CA343725279 | MYOC,MYOCOS | c.973A>T (p.Thr325Ser) c.235-2163T>A (n.235-2163T>A) c.*311A>T (n.*311A>T) | |
1 | g.171636467T>C | CA343725281 | MYOC,MYOCOS | c.973A>G (p.Thr325Ala) c.235-2163T>C (n.235-2163T>C) c.*311A>G (n.*311A>G) | gnomAD v4 |
1 | g.171636467T>G | CA343725284 | MYOC,MYOCOS | c.973A>C (p.Thr325Pro) c.235-2163T>G (n.235-2163T>G) c.*311A>C (n.*311A>C) | |
1 | g.171636468G>A | CA421938597 | MYOC,MYOCOS | c.972C>T (p.Ser324=) c.235-2162G>A (n.235-2162G>A) c.*310C>T (n.*310C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.171636468G>C | CA343725286 | MYOC,MYOCOS | c.972C>G (p.Ser324Arg) c.235-2162G>C (n.235-2162G>C) c.*310C>G (n.*310C>G) | |
1 | g.171636468G= | CA1207016856 | MYOC,MYOCOS | c.972C= (p.Ser324=) c.235-2162G= (n.235-2162G=) c.*310C= (n.*310C=) | |
1 | g.171636468G>T | CA343725288 | MYOC,MYOCOS | c.972C>A (p.Ser324Arg) c.235-2162G>T (n.235-2162G>T) c.*310C>A (n.*310C>A) | |
1 | g.171636469C>A | CA343725290 | MYOC,MYOCOS | c.971G>T (p.Ser324Ile) c.235-2161C>A (n.235-2161C>A) c.*309G>T (n.*309G>T) | |
1 | g.171636469C>G | CA343725292 | MYOC,MYOCOS | c.971G>C (p.Ser324Thr) c.235-2161C>G (n.235-2161C>G) c.*309G>C (n.*309G>C) | |
1 | g.171636469C>T | CA343725294 | MYOC,MYOCOS | c.971G>A (p.Ser324Asn) c.235-2161C>T (n.235-2161C>T) c.*309G>A (n.*309G>A) | gnomAD v4 |
1 | g.171636470T>A | CA343725296 | MYOC,MYOCOS | c.970A>T (p.Ser324Cys) c.235-2160T>A (n.235-2160T>A) c.*308A>T (n.*308A>T) | |
1 | g.171636470T>C | CA343725298 | MYOC,MYOCOS | c.970A>G (p.Ser324Gly) c.235-2160T>C (n.235-2160T>C) c.*308A>G (n.*308A>G) | |
1 | g.171636470T>G | CA343725300 | MYOC,MYOCOS | c.970A>C (p.Ser324Arg) c.235-2160T>G (n.235-2160T>G) c.*308A>C (n.*308A>C) | |
1 | g.171636471T>A | CA343725302 | MYOC,MYOCOS | c.969A>T (p.Glu323Asp) c.235-2159T>A (n.235-2159T>A) c.*307A>T (n.*307A>T) | |
1 | g.171636471T>C | CA421938599 | MYOC,MYOCOS | c.969A>G (p.Glu323=) c.235-2159T>C (n.235-2159T>C) c.*307A>G (n.*307A>G) | |
1 | g.171636471T>G | CA343725304 | MYOC,MYOCOS | c.969A>C (p.Glu323Asp) c.235-2159T>G (n.235-2159T>G) c.*307A>C (n.*307A>C) | |
1 | g.171636472T>A | CA343725308 | MYOC,MYOCOS | c.968A>T (p.Glu323Val) c.235-2158T>A (n.235-2158T>A) c.*306A>T (n.*306A>T) | |
1 | g.171636472T>C | CA343725306 | MYOC,MYOCOS | c.968A>G (p.Glu323Gly) c.235-2158T>C (n.235-2158T>C) c.*306A>G (n.*306A>G) | |
1 | g.171636472T>G | CA343725307 | MYOC,MYOCOS | c.968A>C (p.Glu323Ala) c.235-2158T>G (n.235-2158T>G) c.*306A>C (n.*306A>C) | gnomAD v4 |
1 | g.171636473C>A | CA343725310 | MYOC,MYOCOS | c.967G>T (p.Glu323Ter) c.235-2157C>A (n.235-2157C>A) c.*305G>T (n.*305G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.171636473C= | CA1207016857 | MYOC,MYOCOS | c.967G= (p.Glu323=) c.235-2157C= (n.235-2157C=) c.*305G= (n.*305G=) | |
1 | g.171636473C>G | CA343725311 | MYOC,MYOCOS | c.967G>C (p.Glu323Gln) c.235-2157C>G (n.235-2157C>G) c.*305G>C (n.*305G>C) | |
1 | g.171636473C>T | CA343725312 | MYOC,MYOCOS | c.967G>A (p.Glu323Lys) c.235-2157C>T (n.235-2157C>T) c.*305G>A (n.*305G>A) | ClinVar dbSNP |
1 | g.171636474C>A | CA421938601 | MYOC,MYOCOS | c.966G>T (p.Leu322=) c.235-2156C>A (n.235-2156C>A) c.*304G>T (n.*304G>T) | |
1 | g.171636474C>G | CA421938603 | MYOC,MYOCOS | c.966G>C (p.Leu322=) c.235-2156C>G (n.235-2156C>G) c.*304G>C (n.*304G>C) | |
1 | g.171636474C>T | CA421938602 | MYOC,MYOCOS | c.966G>A (p.Leu322=) c.235-2156C>T (n.235-2156C>T) c.*304G>A (n.*304G>A) | |
1 | g.171636475A>C | CA343725313 | MYOC,MYOCOS | c.965T>G (p.Leu322Arg) c.235-2155A>C (n.235-2155A>C) c.*303T>G (n.*303T>G) | |
1 | g.171636475A>G | CA343725315 | MYOC,MYOCOS | c.965T>C (p.Leu322Pro) c.235-2155A>G (n.235-2155A>G) c.*303T>C (n.*303T>C) | |
1 | g.171636475A>T | CA343725316 | MYOC,MYOCOS | c.965T>A (p.Leu322Gln) c.235-2155A>T (n.235-2155A>T) c.*303T>A (n.*303T>A) | |
1 | g.171636476G>A | CA421938604 | MYOC,MYOCOS | c.964C>T (p.Leu322=) c.235-2154G>A (n.235-2154G>A) c.*302C>T (n.*302C>T) | |
1 | g.171636476G>C | CA343725317 | MYOC,MYOCOS | c.964C>G (p.Leu322Val) c.235-2154G>C (n.235-2154G>C) c.*302C>G (n.*302C>G) | |
1 | g.171636476G>T | CA343725318 | MYOC,MYOCOS | c.964C>A (p.Leu322Met) c.235-2154G>T (n.235-2154G>T) c.*302C>A (n.*302C>A) | |
1 | g.171636477T>A | CA421938606 | MYOC,MYOCOS | c.963A>T (p.Pro321=) c.235-2153T>A (n.235-2153T>A) c.*301A>T (n.*301A>T) | |
1 | g.171636477T>C | CA421938607 | MYOC,MYOCOS | c.963A>G (p.Pro321=) c.235-2153T>C (n.235-2153T>C) c.*301A>G (n.*301A>G) | |
1 | g.171636477T>G | CA421938608 | MYOC,MYOCOS | c.963A>C (p.Pro321=) c.235-2153T>G (n.235-2153T>G) c.*301A>C (n.*301A>C) | |
1 | g.171636477_171636478delinsTG | CA1207016858 | MYOC,MYOCOS | c.962_963delinsCA (p.Pro321=) c.235-2153_235-2152delinsTG (n.235-2153_235-2152delinsTG) c.*300_*301delinsCA (n.*300_*301delinsCA) | |
1 | g.171636478G>A | CA343725319 | MYOC,MYOCOS | c.962C>T (p.Pro321Leu) c.235-2152G>A (n.235-2152G>A) c.*300C>T (n.*300C>T) | |
1 | g.171636478G>C | CA343725320 | MYOC,MYOCOS | c.962C>G (p.Pro321Arg) c.235-2152G>C (n.235-2152G>C) c.*300C>G (n.*300C>G) | |
1 | g.171636478G>T | CA343725322 | MYOC,MYOCOS | c.962C>A (p.Pro321Gln) c.235-2152G>T (n.235-2152G>T) c.*300C>A (n.*300C>A) | |
1 | g.171636479del | CA1207016859 | MYOC,MYOCOS | c.962del (p.Pro321HisfsTer25) c.235-2151del (n.235-2151del) c.*300del (n.*300del) c.962del (p.Pro321HisfsTer19) | dbSNP |
1 | g.171636479G>A | CA1244111 | MYOC,MYOCOS | c.961C>T (p.Pro321Ser) c.235-2151G>A (n.235-2151G>A) c.*299C>T (n.*299C>T) | dbSNP ExAC |
1 | g.171636479G>C | CA343725325 | MYOC,MYOCOS | c.961C>G (p.Pro321Ala) c.235-2151G>C (n.235-2151G>C) c.*299C>G (n.*299C>G) | |
1 | g.171636479G= | CA1207016860 | MYOC,MYOCOS | c.961C= (p.Pro321=) c.235-2151G= (n.235-2151G=) c.*299C= (n.*299C=) | |
1 | g.171636479G>T | CA1244110 | MYOC,MYOCOS | c.961C>A (p.Pro321Thr) c.235-2151G>T (n.235-2151G>T) c.*299C>A (n.*299C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171636480C>A | CA343725327 | MYOC,MYOCOS | c.960G>T (p.Arg320Ser) c.235-2150C>A (n.235-2150C>A) c.*298G>T (n.*298G>T) | |
1 | g.171636480C>G | CA343725329 | MYOC,MYOCOS | c.960G>C (p.Arg320Ser) c.235-2150C>G (n.235-2150C>G) c.*298G>C (n.*298G>C) | |
1 | g.171636480C>T | CA421938611 | MYOC,MYOCOS | c.960G>A (p.Arg320=) c.235-2150C>T (n.235-2150C>T) c.*298G>A (n.*298G>A) | ClinVar |
1 | g.171636481C>A | CA343725330 | MYOC,MYOCOS | c.959G>T (p.Arg320Met) c.235-2149C>A (n.235-2149C>A) c.*297G>T (n.*297G>T) | |
1 | g.171636481C>G | CA343725332 | MYOC,MYOCOS | c.959G>C (p.Arg320Thr) c.235-2149C>G (n.235-2149C>G) c.*297G>C (n.*297G>C) | |
1 | g.171636481C>T | CA343725334 | MYOC,MYOCOS | c.959G>A (p.Arg320Lys) c.235-2149C>T (n.235-2149C>T) c.*297G>A (n.*297G>A) | |
1 | g.171636482T>A | CA343725336 | MYOC,MYOCOS | c.958A>T (p.Arg320Trp) c.235-2148T>A (n.235-2148T>A) c.*296A>T (n.*296A>T) | |
1 | g.171636482T>C | CA343725338 | MYOC,MYOCOS | c.958A>G (p.Arg320Gly) c.235-2148T>C (n.235-2148T>C) c.*296A>G (n.*296A>G) | |
1 | g.171636482T>G | CA421938681 | MYOC,MYOCOS | c.958A>C (p.Arg320=) c.235-2148T>G (n.235-2148T>G) c.*296A>C (n.*296A>C) | |
1 | g.171636483A>C | CA421938682 | MYOC,MYOCOS | c.957T>G (p.Pro319=) c.235-2147A>C (n.235-2147A>C) c.*295T>G (n.*295T>G) | |
1 | g.171636483A>G | CA421938684 | MYOC,MYOCOS | c.957T>C (p.Pro319=) c.235-2147A>G (n.235-2147A>G) c.*295T>C (n.*295T>C) | |
1 | g.171636483A>T | CA421938685 | MYOC,MYOCOS | c.957T>A (p.Pro319=) c.235-2147A>T (n.235-2147A>T) c.*295T>A (n.*295T>A) | |
1 | g.171636483_171636484delinsAG | CA1207016861 | MYOC,MYOCOS | c.956_957delinsCT (p.Pro319=) c.235-2147_235-2146delinsAG (n.235-2147_235-2146delinsAG) c.*294_*295delinsCT (n.*294_*295delinsCT) | |
1 | g.171636484G>A | CA343725340 | MYOC,MYOCOS | c.956C>T (p.Pro319Leu) c.235-2146G>A (n.235-2146G>A) c.*294C>T (n.*294C>T) | gnomAD v4 |
1 | g.171636484G>C | CA343725342 | MYOC,MYOCOS | c.956C>G (p.Pro319Arg) c.235-2146G>C (n.235-2146G>C) c.*294C>G (n.*294C>G) | gnomAD v4 |
1 | g.171636484G>T | CA343725344 | MYOC,MYOCOS | c.956C>A (p.Pro319His) c.235-2146G>T (n.235-2146G>T) c.*294C>A (n.*294C>A) | |
1 | g.171636485del | CA1244112 | MYOC,MYOCOS | c.956del (p.Pro319LeufsTer27) c.235-2145del (n.235-2145del) c.*294del (n.*294del) c.956del (p.Pro319LeufsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171636485G>A | CA343725346 | MYOC,MYOCOS | c.955C>T (p.Pro319Ser) c.235-2145G>A (n.235-2145G>A) c.*293C>T (n.*293C>T) | |
1 | g.171636485G>C | CA343725348 | MYOC,MYOCOS | c.955C>G (p.Pro319Ala) c.235-2145G>C (n.235-2145G>C) c.*293C>G (n.*293C>G) | |
1 | g.171636485G>T | CA343725349 | MYOC,MYOCOS | c.955C>A (p.Pro319Thr) c.235-2145G>T (n.235-2145G>T) c.*293C>A (n.*293C>A) | |
1 | g.171636486C>A | CA421938689 | MYOC,MYOCOS | c.954G>T (p.Leu318=) c.235-2144C>A (n.235-2144C>A) c.*292G>T (n.*292G>T) | |
1 | g.171636486C= | CA1207016862 | MYOC,MYOCOS | c.954G= (p.Leu318=) c.235-2144C= (n.235-2144C=) c.*292G= (n.*292G=) | |
1 | g.171636486C>G | CA421938691 | MYOC,MYOCOS | c.954G>C (p.Leu318=) c.235-2144C>G (n.235-2144C>G) c.*292G>C (n.*292G>C) | |
1 | g.171636486C>T | CA421938693 | MYOC,MYOCOS | c.954G>A (p.Leu318=) c.235-2144C>T (n.235-2144C>T) c.*292G>A (n.*292G>A) | dbSNP gnomAD v2 |
1 | g.171636487A>C | CA343725351 | MYOC,MYOCOS | c.953T>G (p.Leu318Arg) c.235-2143A>C (n.235-2143A>C) c.*291T>G (n.*291T>G) | |
1 | g.171636487A>G | CA343725355 | MYOC,MYOCOS | c.953T>C (p.Leu318Pro) c.235-2143A>G (n.235-2143A>G) c.*291T>C (n.*291T>C) | |
1 | g.171636487A>T | CA343725353 | MYOC,MYOCOS | c.953T>A (p.Leu318Gln) c.235-2143A>T (n.235-2143A>T) c.*291T>A (n.*291T>A) | |
1 | g.171636488G>A | CA1244113 | MYOC,MYOCOS | c.952C>T (p.Leu318=) c.235-2142G>A (n.235-2142G>A) c.*290C>T (n.*290C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.171636488G>C | CA343725358 | MYOC,MYOCOS | c.952C>G (p.Leu318Val) c.235-2142G>C (n.235-2142G>C) c.*290C>G (n.*290C>G) | |
1 | g.171636488G= | CA1207016863 | MYOC,MYOCOS | c.952C= (p.Leu318=) c.235-2142G= (n.235-2142G=) c.*290C= (n.*290C=) | |
1 | g.171636488G>T | CA343725360 | MYOC,MYOCOS | c.952C>A (p.Leu318Met) c.235-2142G>T (n.235-2142G>T) c.*290C>A (n.*290C>A) | gnomAD v4 |
1 | g.171636489T>A | CA421938696 | MYOC,MYOCOS | c.951A>T (p.Ile317=) c.235-2141T>A (n.235-2141T>A) c.*289A>T (n.*289A>T) | |
1 | g.171636489T>C | CA343725362 | MYOC,MYOCOS | c.951A>G (p.Ile317Met) c.235-2141T>C (n.235-2141T>C) c.*289A>G (n.*289A>G) | |
1 | g.171636489T>G | CA421938694 | MYOC,MYOCOS | c.951A>C (p.Ile317=) c.235-2141T>G (n.235-2141T>G) c.*289A>C (n.*289A>C) | |
1 | g.171636490A= | CA1207016864 | MYOC,MYOCOS | c.950T= (p.Ile317=) c.235-2140A= (n.235-2140A=) c.*288T= (n.*288T=) | |
1 | g.171636490A>C | CA343725363 | MYOC,MYOCOS | c.950T>G (p.Ile317Arg) c.235-2140A>C (n.235-2140A>C) c.*288T>G (n.*288T>G) | |
1 | g.171636490A>G | CA343725365 | MYOC,MYOCOS | c.950T>C (p.Ile317Thr) c.235-2140A>G (n.235-2140A>G) c.*288T>C (n.*288T>C) | |
1 | g.171636490A>T | CA343725367 | MYOC,MYOCOS | c.950T>A (p.Ile317Lys) c.235-2140A>T (n.235-2140A>T) c.*288T>A (n.*288T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.171636491T>A | CA343725372 | MYOC,MYOCOS | c.949A>T (p.Ile317Leu) c.235-2139T>A (n.235-2139T>A) c.*287A>T (n.*287A>T) | gnomAD v4 |
1 | g.171636491T>C | CA343725369 | MYOC,MYOCOS | c.949A>G (p.Ile317Val) c.235-2139T>C (n.235-2139T>C) c.*287A>G (n.*287A>G) | |
1 | g.171636491T>G | CA343725370 | MYOC,MYOCOS | c.949A>C (p.Ile317Leu) c.235-2139T>G (n.235-2139T>G) c.*287A>C (n.*287A>C) | |
1 | g.171636492G>A | CA421938697 | MYOC,MYOCOS | c.948C>T (p.His316=) c.235-2138G>A (n.235-2138G>A) c.*286C>T (n.*286C>T) | gnomAD v4 |
1 | g.171636492G>C | CA343725375 | MYOC,MYOCOS | c.948C>G (p.His316Gln) c.235-2138G>C (n.235-2138G>C) c.*286C>G (n.*286C>G) | |
1 | g.171636492G>T | CA343725376 | MYOC,MYOCOS | c.948C>A (p.His316Gln) c.235-2138G>T (n.235-2138G>T) c.*286C>A (n.*286C>A) | |
1 | g.171636493T>A | CA343725379 | MYOC,MYOCOS | c.947A>T (p.His316Leu) c.235-2137T>A (n.235-2137T>A) c.*285A>T (n.*285A>T) | |
1 | g.171636493T>C | CA343725381 | MYOC,MYOCOS | c.947A>G (p.His316Arg) c.235-2137T>C (n.235-2137T>C) c.*285A>G (n.*285A>G) | gnomAD v4 COSMIC |
1 | g.171636493T>G | CA343725382 | MYOC,MYOCOS | c.947A>C (p.His316Pro) c.235-2137T>G (n.235-2137T>G) c.*285A>C (n.*285A>C) | |
1 | g.171636494G>A | CA343725384 | MYOC,MYOCOS | c.946C>T (p.His316Tyr) c.235-2136G>A (n.235-2136G>A) c.*284C>T (n.*284C>T) | gnomAD v4 |
1 | g.171636494G>C | CA343725388 | MYOC,MYOCOS | c.946C>G (p.His316Asp) c.235-2136G>C (n.235-2136G>C) c.*284C>G (n.*284C>G) | |
1 | g.171636494G>T | CA343725386 | MYOC,MYOCOS | c.946C>A (p.His316Asn) c.235-2136G>T (n.235-2136G>T) c.*284C>A (n.*284C>A) | |
1 | g.171636495A>C | CA421938704 | MYOC,MYOCOS | c.945T>G (p.Val315=) c.235-2135A>C (n.235-2135A>C) c.*283T>G (n.*283T>G) | |
1 | g.171636495A>G | CA421938702 | MYOC,MYOCOS | c.945T>C (p.Val315=) c.235-2135A>G (n.235-2135A>G) c.*283T>C (n.*283T>C) | |
1 | g.171636495A>T | CA421938703 | MYOC,MYOCOS | c.945T>A (p.Val315=) c.235-2135A>T (n.235-2135A>T) c.*283T>A (n.*283T>A) | |
1 | g.171636496A= | CA1207016865 | MYOC,MYOCOS | c.944T= (p.Val315=) c.235-2134A= (n.235-2134A=) c.*282T= (n.*282T=) | |
1 | g.171636496A>C | CA343725389 | MYOC,MYOCOS | c.944T>G (p.Val315Gly) c.235-2134A>C (n.235-2134A>C) c.*282T>G (n.*282T>G) | |
1 | g.171636496A>G | CA32685900 | MYOC,MYOCOS | c.944T>C (p.Val315Ala) c.235-2134A>G (n.235-2134A>G) c.*282T>C (n.*282T>C) | dbSNP |
1 | g.171636496A>T | CA343725390 | MYOC,MYOCOS | c.944T>A (p.Val315Asp) c.235-2134A>T (n.235-2134A>T) c.*282T>A (n.*282T>A) |