| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178565987G>A | CA1989387 | TTN,TTN-AS1 | c.72441C>T (p.Val24147=) c.53526C>T (p.Val17842=) c.53325C>T (p.Val17775=) c.52950C>T (p.Val17650=) c.80145C>T (p.Val26715=) c.75222C>T (p.Val25074=) n.447-5313G>A n.2044-16585G>A c.79242C>T (p.Val26414=) c.53136C>T (p.Val17712=) c.52995C>T (p.Val17665=) c.79038C>T (p.Val26346=) c.74436C>T (p.Val24812=) c.74433C>T (p.Val24811=) c.71475C>T (p.Val23825=) c.53091C>T (p.Val17697=) c.74586C>T (p.Val24862=) c.74583C>T (p.Val24861=) c.74016C>T (p.Val24672=) c.71358C>T (p.Val23786=) c.71277C>T (p.Val23759=) c.53040C>T (p.Val17680=) c.42894C>T (p.Val14298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178565987G>C | CA1989386 | TTN,TTN-AS1 | c.72441C>G (p.Val24147=) c.53526C>G (p.Val17842=) c.53325C>G (p.Val17775=) c.52950C>G (p.Val17650=) c.80145C>G (p.Val26715=) c.75222C>G (p.Val25074=) n.447-5313G>C n.2044-16585G>C c.79242C>G (p.Val26414=) c.53136C>G (p.Val17712=) c.52995C>G (p.Val17665=) c.79038C>G (p.Val26346=) c.74436C>G (p.Val24812=) c.74433C>G (p.Val24811=) c.71475C>G (p.Val23825=) c.53091C>G (p.Val17697=) c.74586C>G (p.Val24862=) c.74583C>G (p.Val24861=) c.74016C>G (p.Val24672=) c.71358C>G (p.Val23786=) c.71277C>G (p.Val23759=) c.53040C>G (p.Val17680=) c.42894C>G (p.Val14298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178565987G= | CA1310529340 | TTN,TTN-AS1 | c.72441C= (p.Val24147=) c.53526C= (p.Val17842=) c.53325C= (p.Val17775=) c.52950C= (p.Val17650=) c.80145C= (p.Val26715=) c.75222C= (p.Val25074=) n.447-5313G= n.2044-16585G= c.79242C= (p.Val26414=) c.53136C= (p.Val17712=) c.52995C= (p.Val17665=) c.79038C= (p.Val26346=) c.74436C= (p.Val24812=) c.74433C= (p.Val24811=) c.71475C= (p.Val23825=) c.53091C= (p.Val17697=) c.74586C= (p.Val24862=) c.74583C= (p.Val24861=) c.74016C= (p.Val24672=) c.71358C= (p.Val23786=) c.71277C= (p.Val23759=) c.53040C= (p.Val17680=) c.42894C= (p.Val14298=) | |
| 2 | g.178565987G>T | CA430252320 | TTN,TTN-AS1 | c.72441C>A (p.Val24147=) c.53526C>A (p.Val17842=) c.53325C>A (p.Val17775=) c.52950C>A (p.Val17650=) c.80145C>A (p.Val26715=) c.75222C>A (p.Val25074=) n.447-5313G>T n.2044-16585G>T c.79242C>A (p.Val26414=) c.53136C>A (p.Val17712=) c.52995C>A (p.Val17665=) c.79038C>A (p.Val26346=) c.74436C>A (p.Val24812=) c.74433C>A (p.Val24811=) c.71475C>A (p.Val23825=) c.53091C>A (p.Val17697=) c.74586C>A (p.Val24862=) c.74583C>A (p.Val24861=) c.74016C>A (p.Val24672=) c.71358C>A (p.Val23786=) c.71277C>A (p.Val23759=) c.53040C>A (p.Val17680=) c.42894C>A (p.Val14298=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178565988A>C | CA349590905 | TTN,TTN-AS1 | c.72440T>G (p.Val24147Gly) c.53525T>G (p.Val17842Gly) c.53324T>G (p.Val17775Gly) c.52949T>G (p.Val17650Gly) c.80144T>G (p.Val26715Gly) c.75221T>G (p.Val25074Gly) n.447-5312A>C n.2044-16584A>C c.79241T>G (p.Val26414Gly) c.53135T>G (p.Val17712Gly) c.52994T>G (p.Val17665Gly) c.79037T>G (p.Val26346Gly) c.74435T>G (p.Val24812Gly) c.74432T>G (p.Val24811Gly) c.71474T>G (p.Val23825Gly) c.53090T>G (p.Val17697Gly) c.74585T>G (p.Val24862Gly) c.74582T>G (p.Val24861Gly) c.74015T>G (p.Val24672Gly) c.71357T>G (p.Val23786Gly) c.71276T>G (p.Val23759Gly) c.53039T>G (p.Val17680Gly) c.42893T>G (p.Val14298Gly) | |
| 2 | g.178565988A>G | CA349590911 | TTN,TTN-AS1 | c.72440T>C (p.Val24147Ala) c.53525T>C (p.Val17842Ala) c.53324T>C (p.Val17775Ala) c.52949T>C (p.Val17650Ala) c.80144T>C (p.Val26715Ala) c.75221T>C (p.Val25074Ala) n.447-5312A>G n.2044-16584A>G c.79241T>C (p.Val26414Ala) c.53135T>C (p.Val17712Ala) c.52994T>C (p.Val17665Ala) c.79037T>C (p.Val26346Ala) c.74435T>C (p.Val24812Ala) c.74432T>C (p.Val24811Ala) c.71474T>C (p.Val23825Ala) c.53090T>C (p.Val17697Ala) c.74585T>C (p.Val24862Ala) c.74582T>C (p.Val24861Ala) c.74015T>C (p.Val24672Ala) c.71357T>C (p.Val23786Ala) c.71276T>C (p.Val23759Ala) c.53039T>C (p.Val17680Ala) c.42893T>C (p.Val14298Ala) | |
| 2 | g.178565988A>T | CA349590914 | TTN,TTN-AS1 | c.72440T>A (p.Val24147Asp) c.53525T>A (p.Val17842Asp) c.53324T>A (p.Val17775Asp) c.52949T>A (p.Val17650Asp) c.80144T>A (p.Val26715Asp) c.75221T>A (p.Val25074Asp) n.447-5312A>T n.2044-16584A>T c.79241T>A (p.Val26414Asp) c.53135T>A (p.Val17712Asp) c.52994T>A (p.Val17665Asp) c.79037T>A (p.Val26346Asp) c.74435T>A (p.Val24812Asp) c.74432T>A (p.Val24811Asp) c.71474T>A (p.Val23825Asp) c.53090T>A (p.Val17697Asp) c.74585T>A (p.Val24862Asp) c.74582T>A (p.Val24861Asp) c.74015T>A (p.Val24672Asp) c.71357T>A (p.Val23786Asp) c.71276T>A (p.Val23759Asp) c.53039T>A (p.Val17680Asp) c.42893T>A (p.Val14298Asp) | |
| 2 | g.178565989C>A | CA349590924 | TTN,TTN-AS1 | c.72439G>T (p.Val24147Phe) c.53524G>T (p.Val17842Phe) c.53323G>T (p.Val17775Phe) c.52948G>T (p.Val17650Phe) c.80143G>T (p.Val26715Phe) c.75220G>T (p.Val25074Phe) n.447-5311C>A n.2044-16583C>A c.79240G>T (p.Val26414Phe) c.53134G>T (p.Val17712Phe) c.52993G>T (p.Val17665Phe) c.79036G>T (p.Val26346Phe) c.74434G>T (p.Val24812Phe) c.74431G>T (p.Val24811Phe) c.71473G>T (p.Val23825Phe) c.53089G>T (p.Val17697Phe) c.74584G>T (p.Val24862Phe) c.74581G>T (p.Val24861Phe) c.74014G>T (p.Val24672Phe) c.71356G>T (p.Val23786Phe) c.71275G>T (p.Val23759Phe) c.53038G>T (p.Val17680Phe) c.42892G>T (p.Val14298Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178565989C= | CA1310529341 | TTN,TTN-AS1 | c.72439G= (p.Val24147=) c.53524G= (p.Val17842=) c.53323G= (p.Val17775=) c.52948G= (p.Val17650=) c.80143G= (p.Val26715=) c.75220G= (p.Val25074=) n.447-5311C= n.2044-16583C= c.79240G= (p.Val26414=) c.53134G= (p.Val17712=) c.52993G= (p.Val17665=) c.79036G= (p.Val26346=) c.74434G= (p.Val24812=) c.74431G= (p.Val24811=) c.71473G= (p.Val23825=) c.53089G= (p.Val17697=) c.74584G= (p.Val24862=) c.74581G= (p.Val24861=) c.74014G= (p.Val24672=) c.71356G= (p.Val23786=) c.71275G= (p.Val23759=) c.53038G= (p.Val17680=) c.42892G= (p.Val14298=) | |
| 2 | g.178565989C>G | CA349590921 | TTN,TTN-AS1 | c.72439G>C (p.Val24147Leu) c.53524G>C (p.Val17842Leu) c.53323G>C (p.Val17775Leu) c.52948G>C (p.Val17650Leu) c.80143G>C (p.Val26715Leu) c.75220G>C (p.Val25074Leu) n.447-5311C>G n.2044-16583C>G c.79240G>C (p.Val26414Leu) c.53134G>C (p.Val17712Leu) c.52993G>C (p.Val17665Leu) c.79036G>C (p.Val26346Leu) c.74434G>C (p.Val24812Leu) c.74431G>C (p.Val24811Leu) c.71473G>C (p.Val23825Leu) c.53089G>C (p.Val17697Leu) c.74584G>C (p.Val24862Leu) c.74581G>C (p.Val24861Leu) c.74014G>C (p.Val24672Leu) c.71356G>C (p.Val23786Leu) c.71275G>C (p.Val23759Leu) c.53038G>C (p.Val17680Leu) c.42892G>C (p.Val14298Leu) | |
| 2 | g.178565989C>T | CA349590920 | TTN,TTN-AS1 | c.72439G>A (p.Val24147Ile) c.53524G>A (p.Val17842Ile) c.53323G>A (p.Val17775Ile) c.52948G>A (p.Val17650Ile) c.80143G>A (p.Val26715Ile) c.75220G>A (p.Val25074Ile) n.447-5311C>T n.2044-16583C>T c.79240G>A (p.Val26414Ile) c.53134G>A (p.Val17712Ile) c.52993G>A (p.Val17665Ile) c.79036G>A (p.Val26346Ile) c.74434G>A (p.Val24812Ile) c.74431G>A (p.Val24811Ile) c.71473G>A (p.Val23825Ile) c.53089G>A (p.Val17697Ile) c.74584G>A (p.Val24862Ile) c.74581G>A (p.Val24861Ile) c.74014G>A (p.Val24672Ile) c.71356G>A (p.Val23786Ile) c.71275G>A (p.Val23759Ile) c.53038G>A (p.Val17680Ile) c.42892G>A (p.Val14298Ile) | |
| 2 | g.178565990C>A | CA349590941 | TTN,TTN-AS1 | c.72438G>T (p.Lys24146Asn) c.53523G>T (p.Lys17841Asn) c.53322G>T (p.Lys17774Asn) c.52947G>T (p.Lys17649Asn) c.80142G>T (p.Lys26714Asn) c.75219G>T (p.Lys25073Asn) n.447-5310C>A n.2044-16582C>A c.79239G>T (p.Lys26413Asn) c.53133G>T (p.Lys17711Asn) c.52992G>T (p.Lys17664Asn) c.79035G>T (p.Lys26345Asn) c.74433G>T (p.Lys24811Asn) c.74430G>T (p.Lys24810Asn) c.71472G>T (p.Lys23824Asn) c.53088G>T (p.Lys17696Asn) c.74583G>T (p.Lys24861Asn) c.74580G>T (p.Lys24860Asn) c.74013G>T (p.Lys24671Asn) c.71355G>T (p.Lys23785Asn) c.71274G>T (p.Lys23758Asn) c.53037G>T (p.Lys17679Asn) c.42891G>T (p.Lys14297Asn) | gnomAD v4 |
| 2 | g.178565990C>G | CA349590944 | TTN,TTN-AS1 | c.72438G>C (p.Lys24146Asn) c.53523G>C (p.Lys17841Asn) c.53322G>C (p.Lys17774Asn) c.52947G>C (p.Lys17649Asn) c.80142G>C (p.Lys26714Asn) c.75219G>C (p.Lys25073Asn) n.447-5310C>G n.2044-16582C>G c.79239G>C (p.Lys26413Asn) c.53133G>C (p.Lys17711Asn) c.52992G>C (p.Lys17664Asn) c.79035G>C (p.Lys26345Asn) c.74433G>C (p.Lys24811Asn) c.74430G>C (p.Lys24810Asn) c.71472G>C (p.Lys23824Asn) c.53088G>C (p.Lys17696Asn) c.74583G>C (p.Lys24861Asn) c.74580G>C (p.Lys24860Asn) c.74013G>C (p.Lys24671Asn) c.71355G>C (p.Lys23785Asn) c.71274G>C (p.Lys23758Asn) c.53037G>C (p.Lys17679Asn) c.42891G>C (p.Lys14297Asn) | |
| 2 | g.178565990C>T | CA430252324 | TTN,TTN-AS1 | c.72438G>A (p.Lys24146=) c.53523G>A (p.Lys17841=) c.53322G>A (p.Lys17774=) c.52947G>A (p.Lys17649=) c.80142G>A (p.Lys26714=) c.75219G>A (p.Lys25073=) n.447-5310C>T n.2044-16582C>T c.79239G>A (p.Lys26413=) c.53133G>A (p.Lys17711=) c.52992G>A (p.Lys17664=) c.79035G>A (p.Lys26345=) c.74433G>A (p.Lys24811=) c.74430G>A (p.Lys24810=) c.71472G>A (p.Lys23824=) c.53088G>A (p.Lys17696=) c.74583G>A (p.Lys24861=) c.74580G>A (p.Lys24860=) c.74013G>A (p.Lys24671=) c.71355G>A (p.Lys23785=) c.71274G>A (p.Lys23758=) c.53037G>A (p.Lys17679=) c.42891G>A (p.Lys14297=) | gnomAD v4 |
| 2 | g.178565991T>A | CA349590951 | TTN,TTN-AS1 | c.72437A>T (p.Lys24146Met) c.53522A>T (p.Lys17841Met) c.53321A>T (p.Lys17774Met) c.52946A>T (p.Lys17649Met) c.80141A>T (p.Lys26714Met) c.75218A>T (p.Lys25073Met) n.447-5309T>A n.2044-16581T>A c.79238A>T (p.Lys26413Met) c.53132A>T (p.Lys17711Met) c.52991A>T (p.Lys17664Met) c.79034A>T (p.Lys26345Met) c.74432A>T (p.Lys24811Met) c.74429A>T (p.Lys24810Met) c.71471A>T (p.Lys23824Met) c.53087A>T (p.Lys17696Met) c.74582A>T (p.Lys24861Met) c.74579A>T (p.Lys24860Met) c.74012A>T (p.Lys24671Met) c.71354A>T (p.Lys23785Met) c.71273A>T (p.Lys23758Met) c.53036A>T (p.Lys17679Met) c.42890A>T (p.Lys14297Met) | |
| 2 | g.178565991T>C | CA349590955 | TTN,TTN-AS1 | c.72437A>G (p.Lys24146Arg) c.53522A>G (p.Lys17841Arg) c.53321A>G (p.Lys17774Arg) c.52946A>G (p.Lys17649Arg) c.80141A>G (p.Lys26714Arg) c.75218A>G (p.Lys25073Arg) n.447-5309T>C n.2044-16581T>C c.79238A>G (p.Lys26413Arg) c.53132A>G (p.Lys17711Arg) c.52991A>G (p.Lys17664Arg) c.79034A>G (p.Lys26345Arg) c.74432A>G (p.Lys24811Arg) c.74429A>G (p.Lys24810Arg) c.71471A>G (p.Lys23824Arg) c.53087A>G (p.Lys17696Arg) c.74582A>G (p.Lys24861Arg) c.74579A>G (p.Lys24860Arg) c.74012A>G (p.Lys24671Arg) c.71354A>G (p.Lys23785Arg) c.71273A>G (p.Lys23758Arg) c.53036A>G (p.Lys17679Arg) c.42890A>G (p.Lys14297Arg) | dbSNP |
| 2 | g.178565991T>G | CA349590956 | TTN,TTN-AS1 | c.72437A>C (p.Lys24146Thr) c.53522A>C (p.Lys17841Thr) c.53321A>C (p.Lys17774Thr) c.52946A>C (p.Lys17649Thr) c.80141A>C (p.Lys26714Thr) c.75218A>C (p.Lys25073Thr) n.447-5309T>G n.2044-16581T>G c.79238A>C (p.Lys26413Thr) c.53132A>C (p.Lys17711Thr) c.52991A>C (p.Lys17664Thr) c.79034A>C (p.Lys26345Thr) c.74432A>C (p.Lys24811Thr) c.74429A>C (p.Lys24810Thr) c.71471A>C (p.Lys23824Thr) c.53087A>C (p.Lys17696Thr) c.74582A>C (p.Lys24861Thr) c.74579A>C (p.Lys24860Thr) c.74012A>C (p.Lys24671Thr) c.71354A>C (p.Lys23785Thr) c.71273A>C (p.Lys23758Thr) c.53036A>C (p.Lys17679Thr) c.42890A>C (p.Lys14297Thr) | |
| 2 | g.178565991T= | CA1310529342 | TTN,TTN-AS1 | c.72437A= (p.Lys24146=) c.53522A= (p.Lys17841=) c.53321A= (p.Lys17774=) c.52946A= (p.Lys17649=) c.80141A= (p.Lys26714=) c.75218A= (p.Lys25073=) n.447-5309T= n.2044-16581T= c.79238A= (p.Lys26413=) c.53132A= (p.Lys17711=) c.52991A= (p.Lys17664=) c.79034A= (p.Lys26345=) c.74432A= (p.Lys24811=) c.74429A= (p.Lys24810=) c.71471A= (p.Lys23824=) c.53087A= (p.Lys17696=) c.74582A= (p.Lys24861=) c.74579A= (p.Lys24860=) c.74012A= (p.Lys24671=) c.71354A= (p.Lys23785=) c.71273A= (p.Lys23758=) c.53036A= (p.Lys17679=) c.42890A= (p.Lys14297=) | |
| 2 | g.178565992T>A | CA349590957 | TTN,TTN-AS1 | c.72436A>T (p.Lys24146Ter) c.53521A>T (p.Lys17841Ter) c.53320A>T (p.Lys17774Ter) c.52945A>T (p.Lys17649Ter) c.80140A>T (p.Lys26714Ter) c.75217A>T (p.Lys25073Ter) n.447-5308T>A n.2044-16580T>A c.79237A>T (p.Lys26413Ter) c.53131A>T (p.Lys17711Ter) c.52990A>T (p.Lys17664Ter) c.79033A>T (p.Lys26345Ter) c.74431A>T (p.Lys24811Ter) c.74428A>T (p.Lys24810Ter) c.71470A>T (p.Lys23824Ter) c.53086A>T (p.Lys17696Ter) c.74581A>T (p.Lys24861Ter) c.74578A>T (p.Lys24860Ter) c.74011A>T (p.Lys24671Ter) c.71353A>T (p.Lys23785Ter) c.71272A>T (p.Lys23758Ter) c.53035A>T (p.Lys17679Ter) c.42889A>T (p.Lys14297Ter) | |
| 2 | g.178565992T>C | CA349590958 | TTN,TTN-AS1 | c.72436A>G (p.Lys24146Glu) c.53521A>G (p.Lys17841Glu) c.53320A>G (p.Lys17774Glu) c.52945A>G (p.Lys17649Glu) c.80140A>G (p.Lys26714Glu) c.75217A>G (p.Lys25073Glu) n.447-5308T>C n.2044-16580T>C c.79237A>G (p.Lys26413Glu) c.53131A>G (p.Lys17711Glu) c.52990A>G (p.Lys17664Glu) c.79033A>G (p.Lys26345Glu) c.74431A>G (p.Lys24811Glu) c.74428A>G (p.Lys24810Glu) c.71470A>G (p.Lys23824Glu) c.53086A>G (p.Lys17696Glu) c.74581A>G (p.Lys24861Glu) c.74578A>G (p.Lys24860Glu) c.74011A>G (p.Lys24671Glu) c.71353A>G (p.Lys23785Glu) c.71272A>G (p.Lys23758Glu) c.53035A>G (p.Lys17679Glu) c.42889A>G (p.Lys14297Glu) | |
| 2 | g.178565992T>G | CA349590989 | TTN,TTN-AS1 | c.72436A>C (p.Lys24146Gln) c.53521A>C (p.Lys17841Gln) c.53320A>C (p.Lys17774Gln) c.52945A>C (p.Lys17649Gln) c.80140A>C (p.Lys26714Gln) c.75217A>C (p.Lys25073Gln) n.447-5308T>G n.2044-16580T>G c.79237A>C (p.Lys26413Gln) c.53131A>C (p.Lys17711Gln) c.52990A>C (p.Lys17664Gln) c.79033A>C (p.Lys26345Gln) c.74431A>C (p.Lys24811Gln) c.74428A>C (p.Lys24810Gln) c.71470A>C (p.Lys23824Gln) c.53086A>C (p.Lys17696Gln) c.74581A>C (p.Lys24861Gln) c.74578A>C (p.Lys24860Gln) c.74011A>C (p.Lys24671Gln) c.71353A>C (p.Lys23785Gln) c.71272A>C (p.Lys23758Gln) c.53035A>C (p.Lys17679Gln) c.42889A>C (p.Lys14297Gln) | |
| 2 | g.178565993T>A | CA430252326 | TTN,TTN-AS1 | c.72435A>T (p.Ala24145=) c.53520A>T (p.Ala17840=) c.53319A>T (p.Ala17773=) c.52944A>T (p.Ala17648=) c.80139A>T (p.Ala26713=) c.75216A>T (p.Ala25072=) n.447-5307T>A n.2044-16579T>A c.79236A>T (p.Ala26412=) c.53130A>T (p.Ala17710=) c.52989A>T (p.Ala17663=) c.79032A>T (p.Ala26344=) c.74430A>T (p.Ala24810=) c.74427A>T (p.Ala24809=) c.71469A>T (p.Ala23823=) c.53085A>T (p.Ala17695=) c.74580A>T (p.Ala24860=) c.74577A>T (p.Ala24859=) c.74010A>T (p.Ala24670=) c.71352A>T (p.Ala23784=) c.71271A>T (p.Ala23757=) c.53034A>T (p.Ala17678=) c.42888A>T (p.Ala14296=) | |
| 2 | g.178565993T>C | CA430252327 | TTN,TTN-AS1 | c.72435A>G (p.Ala24145=) c.53520A>G (p.Ala17840=) c.53319A>G (p.Ala17773=) c.52944A>G (p.Ala17648=) c.80139A>G (p.Ala26713=) c.75216A>G (p.Ala25072=) n.447-5307T>C n.2044-16579T>C c.79236A>G (p.Ala26412=) c.53130A>G (p.Ala17710=) c.52989A>G (p.Ala17663=) c.79032A>G (p.Ala26344=) c.74430A>G (p.Ala24810=) c.74427A>G (p.Ala24809=) c.71469A>G (p.Ala23823=) c.53085A>G (p.Ala17695=) c.74580A>G (p.Ala24860=) c.74577A>G (p.Ala24859=) c.74010A>G (p.Ala24670=) c.71352A>G (p.Ala23784=) c.71271A>G (p.Ala23757=) c.53034A>G (p.Ala17678=) c.42888A>G (p.Ala14296=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178565993T>G | CA430252328 | TTN,TTN-AS1 | c.72435A>C (p.Ala24145=) c.53520A>C (p.Ala17840=) c.53319A>C (p.Ala17773=) c.52944A>C (p.Ala17648=) c.80139A>C (p.Ala26713=) c.75216A>C (p.Ala25072=) n.447-5307T>G n.2044-16579T>G c.79236A>C (p.Ala26412=) c.53130A>C (p.Ala17710=) c.52989A>C (p.Ala17663=) c.79032A>C (p.Ala26344=) c.74430A>C (p.Ala24810=) c.74427A>C (p.Ala24809=) c.71469A>C (p.Ala23823=) c.53085A>C (p.Ala17695=) c.74580A>C (p.Ala24860=) c.74577A>C (p.Ala24859=) c.74010A>C (p.Ala24670=) c.71352A>C (p.Ala23784=) c.71271A>C (p.Ala23757=) c.53034A>C (p.Ala17678=) c.42888A>C (p.Ala14296=) | |
| 2 | g.178565993T= | CA1310529343 | TTN,TTN-AS1 | c.72435A= (p.Ala24145=) c.53520A= (p.Ala17840=) c.53319A= (p.Ala17773=) c.52944A= (p.Ala17648=) c.80139A= (p.Ala26713=) c.75216A= (p.Ala25072=) n.447-5307T= n.2044-16579T= c.79236A= (p.Ala26412=) c.53130A= (p.Ala17710=) c.52989A= (p.Ala17663=) c.79032A= (p.Ala26344=) c.74430A= (p.Ala24810=) c.74427A= (p.Ala24809=) c.71469A= (p.Ala23823=) c.53085A= (p.Ala17695=) c.74580A= (p.Ala24860=) c.74577A= (p.Ala24859=) c.74010A= (p.Ala24670=) c.71352A= (p.Ala23784=) c.71271A= (p.Ala23757=) c.53034A= (p.Ala17678=) c.42888A= (p.Ala14296=) | |
| 2 | g.178565994G>A | CA349590992 | TTN,TTN-AS1 | c.72434C>T (p.Ala24145Val) c.53519C>T (p.Ala17840Val) c.53318C>T (p.Ala17773Val) c.52943C>T (p.Ala17648Val) c.80138C>T (p.Ala26713Val) c.75215C>T (p.Ala25072Val) n.447-5306G>A n.2044-16578G>A c.79235C>T (p.Ala26412Val) c.53129C>T (p.Ala17710Val) c.52988C>T (p.Ala17663Val) c.79031C>T (p.Ala26344Val) c.74429C>T (p.Ala24810Val) c.74426C>T (p.Ala24809Val) c.71468C>T (p.Ala23823Val) c.53084C>T (p.Ala17695Val) c.74579C>T (p.Ala24860Val) c.74576C>T (p.Ala24859Val) c.74009C>T (p.Ala24670Val) c.71351C>T (p.Ala23784Val) c.71270C>T (p.Ala23757Val) c.53033C>T (p.Ala17678Val) c.42887C>T (p.Ala14296Val) | |
| 2 | g.178565994G>C | CA349590994 | TTN,TTN-AS1 | c.72434C>G (p.Ala24145Gly) c.53519C>G (p.Ala17840Gly) c.53318C>G (p.Ala17773Gly) c.52943C>G (p.Ala17648Gly) c.80138C>G (p.Ala26713Gly) c.75215C>G (p.Ala25072Gly) n.447-5306G>C n.2044-16578G>C c.79235C>G (p.Ala26412Gly) c.53129C>G (p.Ala17710Gly) c.52988C>G (p.Ala17663Gly) c.79031C>G (p.Ala26344Gly) c.74429C>G (p.Ala24810Gly) c.74426C>G (p.Ala24809Gly) c.71468C>G (p.Ala23823Gly) c.53084C>G (p.Ala17695Gly) c.74579C>G (p.Ala24860Gly) c.74576C>G (p.Ala24859Gly) c.74009C>G (p.Ala24670Gly) c.71351C>G (p.Ala23784Gly) c.71270C>G (p.Ala23757Gly) c.53033C>G (p.Ala17678Gly) c.42887C>G (p.Ala14296Gly) | |
| 2 | g.178565994G>T | CA349590998 | TTN,TTN-AS1 | c.72434C>A (p.Ala24145Glu) c.53519C>A (p.Ala17840Glu) c.53318C>A (p.Ala17773Glu) c.52943C>A (p.Ala17648Glu) c.80138C>A (p.Ala26713Glu) c.75215C>A (p.Ala25072Glu) n.447-5306G>T n.2044-16578G>T c.79235C>A (p.Ala26412Glu) c.53129C>A (p.Ala17710Glu) c.52988C>A (p.Ala17663Glu) c.79031C>A (p.Ala26344Glu) c.74429C>A (p.Ala24810Glu) c.74426C>A (p.Ala24809Glu) c.71468C>A (p.Ala23823Glu) c.53084C>A (p.Ala17695Glu) c.74579C>A (p.Ala24860Glu) c.74576C>A (p.Ala24859Glu) c.74009C>A (p.Ala24670Glu) c.71351C>A (p.Ala23784Glu) c.71270C>A (p.Ala23757Glu) c.53033C>A (p.Ala17678Glu) c.42887C>A (p.Ala14296Glu) | |
| 2 | g.178565995C>A | CA349591001 | TTN,TTN-AS1 | c.72433G>T (p.Ala24145Ser) c.53518G>T (p.Ala17840Ser) c.53317G>T (p.Ala17773Ser) c.52942G>T (p.Ala17648Ser) c.80137G>T (p.Ala26713Ser) c.75214G>T (p.Ala25072Ser) n.447-5305C>A n.2044-16577C>A c.79234G>T (p.Ala26412Ser) c.53128G>T (p.Ala17710Ser) c.52987G>T (p.Ala17663Ser) c.79030G>T (p.Ala26344Ser) c.74428G>T (p.Ala24810Ser) c.74425G>T (p.Ala24809Ser) c.71467G>T (p.Ala23823Ser) c.53083G>T (p.Ala17695Ser) c.74578G>T (p.Ala24860Ser) c.74575G>T (p.Ala24859Ser) c.74008G>T (p.Ala24670Ser) c.71350G>T (p.Ala23784Ser) c.71269G>T (p.Ala23757Ser) c.53032G>T (p.Ala17678Ser) c.42886G>T (p.Ala14296Ser) | |
| 2 | g.178565995C>G | CA349591004 | TTN,TTN-AS1 | c.72433G>C (p.Ala24145Pro) c.53518G>C (p.Ala17840Pro) c.53317G>C (p.Ala17773Pro) c.52942G>C (p.Ala17648Pro) c.80137G>C (p.Ala26713Pro) c.75214G>C (p.Ala25072Pro) n.447-5305C>G n.2044-16577C>G c.79234G>C (p.Ala26412Pro) c.53128G>C (p.Ala17710Pro) c.52987G>C (p.Ala17663Pro) c.79030G>C (p.Ala26344Pro) c.74428G>C (p.Ala24810Pro) c.74425G>C (p.Ala24809Pro) c.71467G>C (p.Ala23823Pro) c.53083G>C (p.Ala17695Pro) c.74578G>C (p.Ala24860Pro) c.74575G>C (p.Ala24859Pro) c.74008G>C (p.Ala24670Pro) c.71350G>C (p.Ala23784Pro) c.71269G>C (p.Ala23757Pro) c.53032G>C (p.Ala17678Pro) c.42886G>C (p.Ala14296Pro) | |
| 2 | g.178565995C>T | CA349591007 | TTN,TTN-AS1 | c.72433G>A (p.Ala24145Thr) c.53518G>A (p.Ala17840Thr) c.53317G>A (p.Ala17773Thr) c.52942G>A (p.Ala17648Thr) c.80137G>A (p.Ala26713Thr) c.75214G>A (p.Ala25072Thr) n.447-5305C>T n.2044-16577C>T c.79234G>A (p.Ala26412Thr) c.53128G>A (p.Ala17710Thr) c.52987G>A (p.Ala17663Thr) c.79030G>A (p.Ala26344Thr) c.74428G>A (p.Ala24810Thr) c.74425G>A (p.Ala24809Thr) c.71467G>A (p.Ala23823Thr) c.53083G>A (p.Ala17695Thr) c.74578G>A (p.Ala24860Thr) c.74575G>A (p.Ala24859Thr) c.74008G>A (p.Ala24670Thr) c.71350G>A (p.Ala23784Thr) c.71269G>A (p.Ala23757Thr) c.53032G>A (p.Ala17678Thr) c.42886G>A (p.Ala14296Thr) | |
| 2 | g.178565996C>A | CA430252333 | TTN,TTN-AS1 | c.72432G>T (p.Gly24144=) c.53517G>T (p.Gly17839=) c.53316G>T (p.Gly17772=) c.52941G>T (p.Gly17647=) c.80136G>T (p.Gly26712=) c.75213G>T (p.Gly25071=) n.447-5304C>A n.2044-16576C>A c.79233G>T (p.Gly26411=) c.53127G>T (p.Gly17709=) c.52986G>T (p.Gly17662=) c.79029G>T (p.Gly26343=) c.74427G>T (p.Gly24809=) c.74424G>T (p.Gly24808=) c.71466G>T (p.Gly23822=) c.53082G>T (p.Gly17694=) c.74577G>T (p.Gly24859=) c.74574G>T (p.Gly24858=) c.74007G>T (p.Gly24669=) c.71349G>T (p.Gly23783=) c.71268G>T (p.Gly23756=) c.53031G>T (p.Gly17677=) c.42885G>T (p.Gly14295=) | |
| 2 | g.178565996C>G | CA430252335 | TTN,TTN-AS1 | c.72432G>C (p.Gly24144=) c.53517G>C (p.Gly17839=) c.53316G>C (p.Gly17772=) c.52941G>C (p.Gly17647=) c.80136G>C (p.Gly26712=) c.75213G>C (p.Gly25071=) n.447-5304C>G n.2044-16576C>G c.79233G>C (p.Gly26411=) c.53127G>C (p.Gly17709=) c.52986G>C (p.Gly17662=) c.79029G>C (p.Gly26343=) c.74427G>C (p.Gly24809=) c.74424G>C (p.Gly24808=) c.71466G>C (p.Gly23822=) c.53082G>C (p.Gly17694=) c.74577G>C (p.Gly24859=) c.74574G>C (p.Gly24858=) c.74007G>C (p.Gly24669=) c.71349G>C (p.Gly23783=) c.71268G>C (p.Gly23756=) c.53031G>C (p.Gly17677=) c.42885G>C (p.Gly14295=) | |
| 2 | g.178565996C>T | CA430252334 | TTN,TTN-AS1 | c.72432G>A (p.Gly24144=) c.53517G>A (p.Gly17839=) c.53316G>A (p.Gly17772=) c.52941G>A (p.Gly17647=) c.80136G>A (p.Gly26712=) c.75213G>A (p.Gly25071=) n.447-5304C>T n.2044-16576C>T c.79233G>A (p.Gly26411=) c.53127G>A (p.Gly17709=) c.52986G>A (p.Gly17662=) c.79029G>A (p.Gly26343=) c.74427G>A (p.Gly24809=) c.74424G>A (p.Gly24808=) c.71466G>A (p.Gly23822=) c.53082G>A (p.Gly17694=) c.74577G>A (p.Gly24859=) c.74574G>A (p.Gly24858=) c.74007G>A (p.Gly24669=) c.71349G>A (p.Gly23783=) c.71268G>A (p.Gly23756=) c.53031G>A (p.Gly17677=) c.42885G>A (p.Gly14295=) | |
| 2 | g.178565997C>A | CA349591015 | TTN,TTN-AS1 | c.72431G>T (p.Gly24144Val) c.53516G>T (p.Gly17839Val) c.53315G>T (p.Gly17772Val) c.52940G>T (p.Gly17647Val) c.80135G>T (p.Gly26712Val) c.75212G>T (p.Gly25071Val) n.447-5303C>A n.2044-16575C>A c.79232G>T (p.Gly26411Val) c.53126G>T (p.Gly17709Val) c.52985G>T (p.Gly17662Val) c.79028G>T (p.Gly26343Val) c.74426G>T (p.Gly24809Val) c.74423G>T (p.Gly24808Val) c.71465G>T (p.Gly23822Val) c.53081G>T (p.Gly17694Val) c.74576G>T (p.Gly24859Val) c.74573G>T (p.Gly24858Val) c.74006G>T (p.Gly24669Val) c.71348G>T (p.Gly23783Val) c.71267G>T (p.Gly23756Val) c.53030G>T (p.Gly17677Val) c.42884G>T (p.Gly14295Val) | |
| 2 | g.178565997C= | CA1310529344 | TTN,TTN-AS1 | c.72431G= (p.Gly24144=) c.53516G= (p.Gly17839=) c.53315G= (p.Gly17772=) c.52940G= (p.Gly17647=) c.80135G= (p.Gly26712=) c.75212G= (p.Gly25071=) n.447-5303C= n.2044-16575C= c.79232G= (p.Gly26411=) c.53126G= (p.Gly17709=) c.52985G= (p.Gly17662=) c.79028G= (p.Gly26343=) c.74426G= (p.Gly24809=) c.74423G= (p.Gly24808=) c.71465G= (p.Gly23822=) c.53081G= (p.Gly17694=) c.74576G= (p.Gly24859=) c.74573G= (p.Gly24858=) c.74006G= (p.Gly24669=) c.71348G= (p.Gly23783=) c.71267G= (p.Gly23756=) c.53030G= (p.Gly17677=) c.42884G= (p.Gly14295=) | |
| 2 | g.178565997C>G | CA349591012 | TTN,TTN-AS1 | c.72431G>C (p.Gly24144Ala) c.53516G>C (p.Gly17839Ala) c.53315G>C (p.Gly17772Ala) c.52940G>C (p.Gly17647Ala) c.80135G>C (p.Gly26712Ala) c.75212G>C (p.Gly25071Ala) n.447-5303C>G n.2044-16575C>G c.79232G>C (p.Gly26411Ala) c.53126G>C (p.Gly17709Ala) c.52985G>C (p.Gly17662Ala) c.79028G>C (p.Gly26343Ala) c.74426G>C (p.Gly24809Ala) c.74423G>C (p.Gly24808Ala) c.71465G>C (p.Gly23822Ala) c.53081G>C (p.Gly17694Ala) c.74576G>C (p.Gly24859Ala) c.74573G>C (p.Gly24858Ala) c.74006G>C (p.Gly24669Ala) c.71348G>C (p.Gly23783Ala) c.71267G>C (p.Gly23756Ala) c.53030G>C (p.Gly17677Ala) c.42884G>C (p.Gly14295Ala) | |
| 2 | g.178565997C>T | CA60989385 | TTN,TTN-AS1 | c.72431G>A (p.Gly24144Glu) c.53516G>A (p.Gly17839Glu) c.53315G>A (p.Gly17772Glu) c.52940G>A (p.Gly17647Glu) c.80135G>A (p.Gly26712Glu) c.75212G>A (p.Gly25071Glu) n.447-5303C>T n.2044-16575C>T c.79232G>A (p.Gly26411Glu) c.53126G>A (p.Gly17709Glu) c.52985G>A (p.Gly17662Glu) c.79028G>A (p.Gly26343Glu) c.74426G>A (p.Gly24809Glu) c.74423G>A (p.Gly24808Glu) c.71465G>A (p.Gly23822Glu) c.53081G>A (p.Gly17694Glu) c.74576G>A (p.Gly24859Glu) c.74573G>A (p.Gly24858Glu) c.74006G>A (p.Gly24669Glu) c.71348G>A (p.Gly23783Glu) c.71267G>A (p.Gly23756Glu) c.53030G>A (p.Gly17677Glu) c.42884G>A (p.Gly14295Glu) | dbSNP |
| 2 | g.178565998C>A | CA349591016 | TTN,TTN-AS1 | c.72430G>T (p.Gly24144Trp) c.53515G>T (p.Gly17839Trp) c.53314G>T (p.Gly17772Trp) c.52939G>T (p.Gly17647Trp) c.80134G>T (p.Gly26712Trp) c.75211G>T (p.Gly25071Trp) n.447-5302C>A n.2044-16574C>A c.79231G>T (p.Gly26411Trp) c.53125G>T (p.Gly17709Trp) c.52984G>T (p.Gly17662Trp) c.79027G>T (p.Gly26343Trp) c.74425G>T (p.Gly24809Trp) c.74422G>T (p.Gly24808Trp) c.71464G>T (p.Gly23822Trp) c.53080G>T (p.Gly17694Trp) c.74575G>T (p.Gly24859Trp) c.74572G>T (p.Gly24858Trp) c.74005G>T (p.Gly24669Trp) c.71347G>T (p.Gly23783Trp) c.71266G>T (p.Gly23756Trp) c.53029G>T (p.Gly17677Trp) c.42883G>T (p.Gly14295Trp) | |
| 2 | g.178565998C>G | CA349591019 | TTN,TTN-AS1 | c.72430G>C (p.Gly24144Arg) c.53515G>C (p.Gly17839Arg) c.53314G>C (p.Gly17772Arg) c.52939G>C (p.Gly17647Arg) c.80134G>C (p.Gly26712Arg) c.75211G>C (p.Gly25071Arg) n.447-5302C>G n.2044-16574C>G c.79231G>C (p.Gly26411Arg) c.53125G>C (p.Gly17709Arg) c.52984G>C (p.Gly17662Arg) c.79027G>C (p.Gly26343Arg) c.74425G>C (p.Gly24809Arg) c.74422G>C (p.Gly24808Arg) c.71464G>C (p.Gly23822Arg) c.53080G>C (p.Gly17694Arg) c.74575G>C (p.Gly24859Arg) c.74572G>C (p.Gly24858Arg) c.74005G>C (p.Gly24669Arg) c.71347G>C (p.Gly23783Arg) c.71266G>C (p.Gly23756Arg) c.53029G>C (p.Gly17677Arg) c.42883G>C (p.Gly14295Arg) | |
| 2 | g.178565998C>T | CA349591023 | TTN,TTN-AS1 | c.72430G>A (p.Gly24144Arg) c.53515G>A (p.Gly17839Arg) c.53314G>A (p.Gly17772Arg) c.52939G>A (p.Gly17647Arg) c.80134G>A (p.Gly26712Arg) c.75211G>A (p.Gly25071Arg) n.447-5302C>T n.2044-16574C>T c.79231G>A (p.Gly26411Arg) c.53125G>A (p.Gly17709Arg) c.52984G>A (p.Gly17662Arg) c.79027G>A (p.Gly26343Arg) c.74425G>A (p.Gly24809Arg) c.74422G>A (p.Gly24808Arg) c.71464G>A (p.Gly23822Arg) c.53080G>A (p.Gly17694Arg) c.74575G>A (p.Gly24859Arg) c.74572G>A (p.Gly24858Arg) c.74005G>A (p.Gly24669Arg) c.71347G>A (p.Gly23783Arg) c.71266G>A (p.Gly23756Arg) c.53029G>A (p.Gly17677Arg) c.42883G>A (p.Gly14295Arg) | |
| 2 | g.178565999T>A | CA430252341 | TTN,TTN-AS1 | c.72429A>T (p.Gly24143=) c.53514A>T (p.Gly17838=) c.53313A>T (p.Gly17771=) c.52938A>T (p.Gly17646=) c.80133A>T (p.Gly26711=) c.75210A>T (p.Gly25070=) n.447-5301T>A n.2044-16573T>A c.79230A>T (p.Gly26410=) c.53124A>T (p.Gly17708=) c.52983A>T (p.Gly17661=) c.79026A>T (p.Gly26342=) c.74424A>T (p.Gly24808=) c.74421A>T (p.Gly24807=) c.71463A>T (p.Gly23821=) c.53079A>T (p.Gly17693=) c.74574A>T (p.Gly24858=) c.74571A>T (p.Gly24857=) c.74004A>T (p.Gly24668=) c.71346A>T (p.Gly23782=) c.71265A>T (p.Gly23755=) c.53028A>T (p.Gly17676=) c.42882A>T (p.Gly14294=) | |
| 2 | g.178565999T>C | CA1989388 | TTN,TTN-AS1 | c.72429A>G (p.Gly24143=) c.53514A>G (p.Gly17838=) c.53313A>G (p.Gly17771=) c.52938A>G (p.Gly17646=) c.80133A>G (p.Gly26711=) c.75210A>G (p.Gly25070=) n.447-5301T>C n.2044-16573T>C c.79230A>G (p.Gly26410=) c.53124A>G (p.Gly17708=) c.52983A>G (p.Gly17661=) c.79026A>G (p.Gly26342=) c.74424A>G (p.Gly24808=) c.74421A>G (p.Gly24807=) c.71463A>G (p.Gly23821=) c.53079A>G (p.Gly17693=) c.74574A>G (p.Gly24858=) c.74571A>G (p.Gly24857=) c.74004A>G (p.Gly24668=) c.71346A>G (p.Gly23782=) c.71265A>G (p.Gly23755=) c.53028A>G (p.Gly17676=) c.42882A>G (p.Gly14294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178565999T>G | CA430252340 | TTN,TTN-AS1 | c.72429A>C (p.Gly24143=) c.53514A>C (p.Gly17838=) c.53313A>C (p.Gly17771=) c.52938A>C (p.Gly17646=) c.80133A>C (p.Gly26711=) c.75210A>C (p.Gly25070=) n.447-5301T>G n.2044-16573T>G c.79230A>C (p.Gly26410=) c.53124A>C (p.Gly17708=) c.52983A>C (p.Gly17661=) c.79026A>C (p.Gly26342=) c.74424A>C (p.Gly24808=) c.74421A>C (p.Gly24807=) c.71463A>C (p.Gly23821=) c.53079A>C (p.Gly17693=) c.74574A>C (p.Gly24858=) c.74571A>C (p.Gly24857=) c.74004A>C (p.Gly24668=) c.71346A>C (p.Gly23782=) c.71265A>C (p.Gly23755=) c.53028A>C (p.Gly17676=) c.42882A>C (p.Gly14294=) | gnomAD v4 |
| 2 | g.178565999T= | CA1310529345 | TTN,TTN-AS1 | c.72429A= (p.Gly24143=) c.53514A= (p.Gly17838=) c.53313A= (p.Gly17771=) c.52938A= (p.Gly17646=) c.80133A= (p.Gly26711=) c.75210A= (p.Gly25070=) n.447-5301T= n.2044-16573T= c.79230A= (p.Gly26410=) c.53124A= (p.Gly17708=) c.52983A= (p.Gly17661=) c.79026A= (p.Gly26342=) c.74424A= (p.Gly24808=) c.74421A= (p.Gly24807=) c.71463A= (p.Gly23821=) c.53079A= (p.Gly17693=) c.74574A= (p.Gly24858=) c.74571A= (p.Gly24857=) c.74004A= (p.Gly24668=) c.71346A= (p.Gly23782=) c.71265A= (p.Gly23755=) c.53028A= (p.Gly17676=) c.42882A= (p.Gly14294=) | |
| 2 | g.178566000C>A | CA349591034 | TTN,TTN-AS1 | c.72428G>T (p.Gly24143Val) c.53513G>T (p.Gly17838Val) c.53312G>T (p.Gly17771Val) c.52937G>T (p.Gly17646Val) c.80132G>T (p.Gly26711Val) c.75209G>T (p.Gly25070Val) n.447-5300C>A n.2044-16572C>A c.79229G>T (p.Gly26410Val) c.53123G>T (p.Gly17708Val) c.52982G>T (p.Gly17661Val) c.79025G>T (p.Gly26342Val) c.74423G>T (p.Gly24808Val) c.74420G>T (p.Gly24807Val) c.71462G>T (p.Gly23821Val) c.53078G>T (p.Gly17693Val) c.74573G>T (p.Gly24858Val) c.74570G>T (p.Gly24857Val) c.74003G>T (p.Gly24668Val) c.71345G>T (p.Gly23782Val) c.71264G>T (p.Gly23755Val) c.53027G>T (p.Gly17676Val) c.42881G>T (p.Gly14294Val) | |
| 2 | g.178566000C>G | CA349591038 | TTN,TTN-AS1 | c.72428G>C (p.Gly24143Ala) c.53513G>C (p.Gly17838Ala) c.53312G>C (p.Gly17771Ala) c.52937G>C (p.Gly17646Ala) c.80132G>C (p.Gly26711Ala) c.75209G>C (p.Gly25070Ala) n.447-5300C>G n.2044-16572C>G c.79229G>C (p.Gly26410Ala) c.53123G>C (p.Gly17708Ala) c.52982G>C (p.Gly17661Ala) c.79025G>C (p.Gly26342Ala) c.74423G>C (p.Gly24808Ala) c.74420G>C (p.Gly24807Ala) c.71462G>C (p.Gly23821Ala) c.53078G>C (p.Gly17693Ala) c.74573G>C (p.Gly24858Ala) c.74570G>C (p.Gly24857Ala) c.74003G>C (p.Gly24668Ala) c.71345G>C (p.Gly23782Ala) c.71264G>C (p.Gly23755Ala) c.53027G>C (p.Gly17676Ala) c.42881G>C (p.Gly14294Ala) | |
| 2 | g.178566000C>T | CA349591048 | TTN,TTN-AS1 | c.72428G>A (p.Gly24143Glu) c.53513G>A (p.Gly17838Glu) c.53312G>A (p.Gly17771Glu) c.52937G>A (p.Gly17646Glu) c.80132G>A (p.Gly26711Glu) c.75209G>A (p.Gly25070Glu) n.447-5300C>T n.2044-16572C>T c.79229G>A (p.Gly26410Glu) c.53123G>A (p.Gly17708Glu) c.52982G>A (p.Gly17661Glu) c.79025G>A (p.Gly26342Glu) c.74423G>A (p.Gly24808Glu) c.74420G>A (p.Gly24807Glu) c.71462G>A (p.Gly23821Glu) c.53078G>A (p.Gly17693Glu) c.74573G>A (p.Gly24858Glu) c.74570G>A (p.Gly24857Glu) c.74003G>A (p.Gly24668Glu) c.71345G>A (p.Gly23782Glu) c.71264G>A (p.Gly23755Glu) c.53027G>A (p.Gly17676Glu) c.42881G>A (p.Gly14294Glu) | |
| 2 | g.178566001C>A | CA349591061 | TTN,TTN-AS1 | c.72427G>T (p.Gly24143Ter) c.53512G>T (p.Gly17838Ter) c.53311G>T (p.Gly17771Ter) c.52936G>T (p.Gly17646Ter) c.80131G>T (p.Gly26711Ter) c.75208G>T (p.Gly25070Ter) n.447-5299C>A n.2044-16571C>A c.79228G>T (p.Gly26410Ter) c.53122G>T (p.Gly17708Ter) c.52981G>T (p.Gly17661Ter) c.79024G>T (p.Gly26342Ter) c.74422G>T (p.Gly24808Ter) c.74419G>T (p.Gly24807Ter) c.71461G>T (p.Gly23821Ter) c.53077G>T (p.Gly17693Ter) c.74572G>T (p.Gly24858Ter) c.74569G>T (p.Gly24857Ter) c.74002G>T (p.Gly24668Ter) c.71344G>T (p.Gly23782Ter) c.71263G>T (p.Gly23755Ter) c.53026G>T (p.Gly17676Ter) c.42880G>T (p.Gly14294Ter) | |
| 2 | g.178566001C>G | CA349591053 | TTN,TTN-AS1 | c.72427G>C (p.Gly24143Arg) c.53512G>C (p.Gly17838Arg) c.53311G>C (p.Gly17771Arg) c.52936G>C (p.Gly17646Arg) c.80131G>C (p.Gly26711Arg) c.75208G>C (p.Gly25070Arg) n.447-5299C>G n.2044-16571C>G c.79228G>C (p.Gly26410Arg) c.53122G>C (p.Gly17708Arg) c.52981G>C (p.Gly17661Arg) c.79024G>C (p.Gly26342Arg) c.74422G>C (p.Gly24808Arg) c.74419G>C (p.Gly24807Arg) c.71461G>C (p.Gly23821Arg) c.53077G>C (p.Gly17693Arg) c.74572G>C (p.Gly24858Arg) c.74569G>C (p.Gly24857Arg) c.74002G>C (p.Gly24668Arg) c.71344G>C (p.Gly23782Arg) c.71263G>C (p.Gly23755Arg) c.53026G>C (p.Gly17676Arg) c.42880G>C (p.Gly14294Arg) |