| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178586606T>A | CA349441947 | TTN,TTN-AS1 | c.56591A>T (p.Lys18864Met) c.37676A>T (p.Lys12559Met) c.37475A>T (p.Lys12492Met) c.37100A>T (p.Lys12367Met) c.64295A>T (p.Lys21432Met) c.59372A>T (p.Lys19791Met) n.597-10990T>A n.3188+1613T>A c.63392A>T (p.Lys21131Met) c.37286A>T (p.Lys12429Met) c.37145A>T (p.Lys12382Met) c.63188A>T (p.Lys21063Met) c.58586A>T (p.Lys19529Met) c.58583A>T (p.Lys19528Met) c.55625A>T (p.Lys18542Met) c.37241A>T (p.Lys12414Met) c.58736A>T (p.Lys19579Met) c.58733A>T (p.Lys19578Met) c.58166A>T (p.Lys19389Met) c.55508A>T (p.Lys18503Met) c.55427A>T (p.Lys18476Met) c.37190A>T (p.Lys12397Met) c.27044A>T (p.Lys9015Met) | |
| 2 | g.178586606T>C | CA349441948 | TTN,TTN-AS1 | c.56591A>G (p.Lys18864Arg) c.37676A>G (p.Lys12559Arg) c.37475A>G (p.Lys12492Arg) c.37100A>G (p.Lys12367Arg) c.64295A>G (p.Lys21432Arg) c.59372A>G (p.Lys19791Arg) n.597-10990T>C n.3188+1613T>C c.63392A>G (p.Lys21131Arg) c.37286A>G (p.Lys12429Arg) c.37145A>G (p.Lys12382Arg) c.63188A>G (p.Lys21063Arg) c.58586A>G (p.Lys19529Arg) c.58583A>G (p.Lys19528Arg) c.55625A>G (p.Lys18542Arg) c.37241A>G (p.Lys12414Arg) c.58736A>G (p.Lys19579Arg) c.58733A>G (p.Lys19578Arg) c.58166A>G (p.Lys19389Arg) c.55508A>G (p.Lys18503Arg) c.55427A>G (p.Lys18476Arg) c.37190A>G (p.Lys12397Arg) c.27044A>G (p.Lys9015Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178586606T>G | CA349441951 | TTN,TTN-AS1 | c.56591A>C (p.Lys18864Thr) c.37676A>C (p.Lys12559Thr) c.37475A>C (p.Lys12492Thr) c.37100A>C (p.Lys12367Thr) c.64295A>C (p.Lys21432Thr) c.59372A>C (p.Lys19791Thr) n.597-10990T>G n.3188+1613T>G c.63392A>C (p.Lys21131Thr) c.37286A>C (p.Lys12429Thr) c.37145A>C (p.Lys12382Thr) c.63188A>C (p.Lys21063Thr) c.58586A>C (p.Lys19529Thr) c.58583A>C (p.Lys19528Thr) c.55625A>C (p.Lys18542Thr) c.37241A>C (p.Lys12414Thr) c.58736A>C (p.Lys19579Thr) c.58733A>C (p.Lys19578Thr) c.58166A>C (p.Lys19389Thr) c.55508A>C (p.Lys18503Thr) c.55427A>C (p.Lys18476Thr) c.37190A>C (p.Lys12397Thr) c.27044A>C (p.Lys9015Thr) | |
| 2 | g.178586606T= | CA1310537528 | TTN,TTN-AS1 | c.56591A= (p.Lys18864=) c.37676A= (p.Lys12559=) c.37475A= (p.Lys12492=) c.37100A= (p.Lys12367=) c.64295A= (p.Lys21432=) c.59372A= (p.Lys19791=) n.597-10990T= n.3188+1613T= c.63392A= (p.Lys21131=) c.37286A= (p.Lys12429=) c.37145A= (p.Lys12382=) c.63188A= (p.Lys21063=) c.58586A= (p.Lys19529=) c.58583A= (p.Lys19528=) c.55625A= (p.Lys18542=) c.37241A= (p.Lys12414=) c.58736A= (p.Lys19579=) c.58733A= (p.Lys19578=) c.58166A= (p.Lys19389=) c.55508A= (p.Lys18503=) c.55427A= (p.Lys18476=) c.37190A= (p.Lys12397=) c.27044A= (p.Lys9015=) | |
| 2 | g.178586608del | CA645518121 | TTN,TTN-AS1 | c.56591del (p.Lys18864ArgfsTer10) c.37676del (p.Lys12559ArgfsTer10) c.37475del (p.Lys12492ArgfsTer10) c.37100del (p.Lys12367ArgfsTer10) c.64295del (p.Lys21432ArgfsTer10) c.59372del (p.Lys19791ArgfsTer10) n.597-10988del n.3188+1615del c.63392del (p.Lys21131ArgfsTer10) c.37286del (p.Lys12429ArgfsTer10) c.37145del (p.Lys12382ArgfsTer10) c.63188del (p.Lys21063ArgfsTer10) c.58586del (p.Lys19529ArgfsTer10) c.58583del (p.Lys19528ArgfsTer10) c.55625del (p.Lys18542ArgfsTer10) c.37241del (p.Lys12414ArgfsTer10) c.58736del (p.Lys19579ArgfsTer10) c.58733del (p.Lys19578ArgfsTer10) c.58166del (p.Lys19389ArgfsTer10) c.55508del (p.Lys18503ArgfsTer10) c.55427del (p.Lys18476ArgfsTer10) c.37190del (p.Lys12397ArgfsTer10) c.27044del (p.Lys9015ArgfsTer10) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178586607T>A | CA349441957 | TTN,TTN-AS1 | c.56590A>T (p.Lys18864Ter) c.37675A>T (p.Lys12559Ter) c.37474A>T (p.Lys12492Ter) c.37099A>T (p.Lys12367Ter) c.64294A>T (p.Lys21432Ter) c.59371A>T (p.Lys19791Ter) n.597-10989T>A n.3188+1614T>A c.63391A>T (p.Lys21131Ter) c.37285A>T (p.Lys12429Ter) c.37144A>T (p.Lys12382Ter) c.63187A>T (p.Lys21063Ter) c.58585A>T (p.Lys19529Ter) c.58582A>T (p.Lys19528Ter) c.55624A>T (p.Lys18542Ter) c.37240A>T (p.Lys12414Ter) c.58735A>T (p.Lys19579Ter) c.58732A>T (p.Lys19578Ter) c.58165A>T (p.Lys19389Ter) c.55507A>T (p.Lys18503Ter) c.55426A>T (p.Lys18476Ter) c.37189A>T (p.Lys12397Ter) c.27043A>T (p.Lys9015Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178586607T>C | CA349441971 | TTN,TTN-AS1 | c.56590A>G (p.Lys18864Glu) c.37675A>G (p.Lys12559Glu) c.37474A>G (p.Lys12492Glu) c.37099A>G (p.Lys12367Glu) c.64294A>G (p.Lys21432Glu) c.59371A>G (p.Lys19791Glu) n.597-10989T>C n.3188+1614T>C c.63391A>G (p.Lys21131Glu) c.37285A>G (p.Lys12429Glu) c.37144A>G (p.Lys12382Glu) c.63187A>G (p.Lys21063Glu) c.58585A>G (p.Lys19529Glu) c.58582A>G (p.Lys19528Glu) c.55624A>G (p.Lys18542Glu) c.37240A>G (p.Lys12414Glu) c.58735A>G (p.Lys19579Glu) c.58732A>G (p.Lys19578Glu) c.58165A>G (p.Lys19389Glu) c.55507A>G (p.Lys18503Glu) c.55426A>G (p.Lys18476Glu) c.37189A>G (p.Lys12397Glu) c.27043A>G (p.Lys9015Glu) | |
| 2 | g.178586607T>G | CA349441980 | TTN,TTN-AS1 | c.56590A>C (p.Lys18864Gln) c.37675A>C (p.Lys12559Gln) c.37474A>C (p.Lys12492Gln) c.37099A>C (p.Lys12367Gln) c.64294A>C (p.Lys21432Gln) c.59371A>C (p.Lys19791Gln) n.597-10989T>G n.3188+1614T>G c.63391A>C (p.Lys21131Gln) c.37285A>C (p.Lys12429Gln) c.37144A>C (p.Lys12382Gln) c.63187A>C (p.Lys21063Gln) c.58585A>C (p.Lys19529Gln) c.58582A>C (p.Lys19528Gln) c.55624A>C (p.Lys18542Gln) c.37240A>C (p.Lys12414Gln) c.58735A>C (p.Lys19579Gln) c.58732A>C (p.Lys19578Gln) c.58165A>C (p.Lys19389Gln) c.55507A>C (p.Lys18503Gln) c.55426A>C (p.Lys18476Gln) c.37189A>C (p.Lys12397Gln) c.27043A>C (p.Lys9015Gln) | |
| 2 | g.178586607T= | CA1310537538 | TTN,TTN-AS1 | c.56590A= (p.Lys18864=) c.37675A= (p.Lys12559=) c.37474A= (p.Lys12492=) c.37099A= (p.Lys12367=) c.64294A= (p.Lys21432=) c.59371A= (p.Lys19791=) n.597-10989T= n.3188+1614T= c.63391A= (p.Lys21131=) c.37285A= (p.Lys12429=) c.37144A= (p.Lys12382=) c.63187A= (p.Lys21063=) c.58585A= (p.Lys19529=) c.58582A= (p.Lys19528=) c.55624A= (p.Lys18542=) c.37240A= (p.Lys12414=) c.58735A= (p.Lys19579=) c.58732A= (p.Lys19578=) c.58165A= (p.Lys19389=) c.55507A= (p.Lys18503=) c.55426A= (p.Lys18476=) c.37189A= (p.Lys12397=) c.27043A= (p.Lys9015=) | |
| 2 | g.178586608T>A | CA430264217 | TTN,TTN-AS1 | c.56589A>T (p.Leu18863=) c.37674A>T (p.Leu12558=) c.37473A>T (p.Leu12491=) c.37098A>T (p.Leu12366=) c.64293A>T (p.Leu21431=) c.59370A>T (p.Leu19790=) n.597-10988T>A n.3188+1615T>A c.63390A>T (p.Leu21130=) c.37284A>T (p.Leu12428=) c.37143A>T (p.Leu12381=) c.63186A>T (p.Leu21062=) c.58584A>T (p.Leu19528=) c.58581A>T (p.Leu19527=) c.55623A>T (p.Leu18541=) c.37239A>T (p.Leu12413=) c.58734A>T (p.Leu19578=) c.58731A>T (p.Leu19577=) c.58164A>T (p.Leu19388=) c.55506A>T (p.Leu18502=) c.55425A>T (p.Leu18475=) c.37188A>T (p.Leu12396=) c.27042A>T (p.Leu9014=) | |
| 2 | g.178586608T>C | CA430264218 | TTN,TTN-AS1 | c.56589A>G (p.Leu18863=) c.37674A>G (p.Leu12558=) c.37473A>G (p.Leu12491=) c.37098A>G (p.Leu12366=) c.64293A>G (p.Leu21431=) c.59370A>G (p.Leu19790=) n.597-10988T>C n.3188+1615T>C c.63390A>G (p.Leu21130=) c.37284A>G (p.Leu12428=) c.37143A>G (p.Leu12381=) c.63186A>G (p.Leu21062=) c.58584A>G (p.Leu19528=) c.58581A>G (p.Leu19527=) c.55623A>G (p.Leu18541=) c.37239A>G (p.Leu12413=) c.58734A>G (p.Leu19578=) c.58731A>G (p.Leu19577=) c.58164A>G (p.Leu19388=) c.55506A>G (p.Leu18502=) c.55425A>G (p.Leu18475=) c.37188A>G (p.Leu12396=) c.27042A>G (p.Leu9014=) | |
| 2 | g.178586608T>G | CA430264219 | TTN,TTN-AS1 | c.56589A>C (p.Leu18863=) c.37674A>C (p.Leu12558=) c.37473A>C (p.Leu12491=) c.37098A>C (p.Leu12366=) c.64293A>C (p.Leu21431=) c.59370A>C (p.Leu19790=) n.597-10988T>G n.3188+1615T>G c.63390A>C (p.Leu21130=) c.37284A>C (p.Leu12428=) c.37143A>C (p.Leu12381=) c.63186A>C (p.Leu21062=) c.58584A>C (p.Leu19528=) c.58581A>C (p.Leu19527=) c.55623A>C (p.Leu18541=) c.37239A>C (p.Leu12413=) c.58734A>C (p.Leu19578=) c.58731A>C (p.Leu19577=) c.58164A>C (p.Leu19388=) c.55506A>C (p.Leu18502=) c.55425A>C (p.Leu18475=) c.37188A>C (p.Leu12396=) c.27042A>C (p.Leu9014=) | |
| 2 | g.178586609A>C | CA349441989 | TTN,TTN-AS1 | c.56588T>G (p.Leu18863Arg) c.37673T>G (p.Leu12558Arg) c.37472T>G (p.Leu12491Arg) c.37097T>G (p.Leu12366Arg) c.64292T>G (p.Leu21431Arg) c.59369T>G (p.Leu19790Arg) n.597-10987A>C n.3188+1616A>C c.63389T>G (p.Leu21130Arg) c.37283T>G (p.Leu12428Arg) c.37142T>G (p.Leu12381Arg) c.63185T>G (p.Leu21062Arg) c.58583T>G (p.Leu19528Arg) c.58580T>G (p.Leu19527Arg) c.55622T>G (p.Leu18541Arg) c.37238T>G (p.Leu12413Arg) c.58733T>G (p.Leu19578Arg) c.58730T>G (p.Leu19577Arg) c.58163T>G (p.Leu19388Arg) c.55505T>G (p.Leu18502Arg) c.55424T>G (p.Leu18475Arg) c.37187T>G (p.Leu12396Arg) c.27041T>G (p.Leu9014Arg) | |
| 2 | g.178586609A>G | CA349441993 | TTN,TTN-AS1 | c.56588T>C (p.Leu18863Pro) c.37673T>C (p.Leu12558Pro) c.37472T>C (p.Leu12491Pro) c.37097T>C (p.Leu12366Pro) c.64292T>C (p.Leu21431Pro) c.59369T>C (p.Leu19790Pro) n.597-10987A>G n.3188+1616A>G c.63389T>C (p.Leu21130Pro) c.37283T>C (p.Leu12428Pro) c.37142T>C (p.Leu12381Pro) c.63185T>C (p.Leu21062Pro) c.58583T>C (p.Leu19528Pro) c.58580T>C (p.Leu19527Pro) c.55622T>C (p.Leu18541Pro) c.37238T>C (p.Leu12413Pro) c.58733T>C (p.Leu19578Pro) c.58730T>C (p.Leu19577Pro) c.58163T>C (p.Leu19388Pro) c.55505T>C (p.Leu18502Pro) c.55424T>C (p.Leu18475Pro) c.37187T>C (p.Leu12396Pro) c.27041T>C (p.Leu9014Pro) | |
| 2 | g.178586609A>T | CA349442007 | TTN,TTN-AS1 | c.56588T>A (p.Leu18863Gln) c.37673T>A (p.Leu12558Gln) c.37472T>A (p.Leu12491Gln) c.37097T>A (p.Leu12366Gln) c.64292T>A (p.Leu21431Gln) c.59369T>A (p.Leu19790Gln) n.597-10987A>T n.3188+1616A>T c.63389T>A (p.Leu21130Gln) c.37283T>A (p.Leu12428Gln) c.37142T>A (p.Leu12381Gln) c.63185T>A (p.Leu21062Gln) c.58583T>A (p.Leu19528Gln) c.58580T>A (p.Leu19527Gln) c.55622T>A (p.Leu18541Gln) c.37238T>A (p.Leu12413Gln) c.58733T>A (p.Leu19578Gln) c.58730T>A (p.Leu19577Gln) c.58163T>A (p.Leu19388Gln) c.55505T>A (p.Leu18502Gln) c.55424T>A (p.Leu18475Gln) c.37187T>A (p.Leu12396Gln) c.27041T>A (p.Leu9014Gln) | |
| 2 | g.178586610G>A | CA430264221 | TTN,TTN-AS1 | c.56587C>T (p.Leu18863=) c.37672C>T (p.Leu12558=) c.37471C>T (p.Leu12491=) c.37096C>T (p.Leu12366=) c.64291C>T (p.Leu21431=) c.59368C>T (p.Leu19790=) n.597-10986G>A n.3188+1617G>A c.63388C>T (p.Leu21130=) c.37282C>T (p.Leu12428=) c.37141C>T (p.Leu12381=) c.63184C>T (p.Leu21062=) c.58582C>T (p.Leu19528=) c.58579C>T (p.Leu19527=) c.55621C>T (p.Leu18541=) c.37237C>T (p.Leu12413=) c.58732C>T (p.Leu19578=) c.58729C>T (p.Leu19577=) c.58162C>T (p.Leu19388=) c.55504C>T (p.Leu18502=) c.55423C>T (p.Leu18475=) c.37186C>T (p.Leu12396=) c.27040C>T (p.Leu9014=) | ClinVar gnomAD v4 |
| 2 | g.178586610G>C | CA349442013 | TTN,TTN-AS1 | c.56587C>G (p.Leu18863Val) c.37672C>G (p.Leu12558Val) c.37471C>G (p.Leu12491Val) c.37096C>G (p.Leu12366Val) c.64291C>G (p.Leu21431Val) c.59368C>G (p.Leu19790Val) n.597-10986G>C n.3188+1617G>C c.63388C>G (p.Leu21130Val) c.37282C>G (p.Leu12428Val) c.37141C>G (p.Leu12381Val) c.63184C>G (p.Leu21062Val) c.58582C>G (p.Leu19528Val) c.58579C>G (p.Leu19527Val) c.55621C>G (p.Leu18541Val) c.37237C>G (p.Leu12413Val) c.58732C>G (p.Leu19578Val) c.58729C>G (p.Leu19577Val) c.58162C>G (p.Leu19388Val) c.55504C>G (p.Leu18502Val) c.55423C>G (p.Leu18475Val) c.37186C>G (p.Leu12396Val) c.27040C>G (p.Leu9014Val) | |
| 2 | g.178586610G>T | CA349442018 | TTN,TTN-AS1 | c.56587C>A (p.Leu18863Ile) c.37672C>A (p.Leu12558Ile) c.37471C>A (p.Leu12491Ile) c.37096C>A (p.Leu12366Ile) c.64291C>A (p.Leu21431Ile) c.59368C>A (p.Leu19790Ile) n.597-10986G>T n.3188+1617G>T c.63388C>A (p.Leu21130Ile) c.37282C>A (p.Leu12428Ile) c.37141C>A (p.Leu12381Ile) c.63184C>A (p.Leu21062Ile) c.58582C>A (p.Leu19528Ile) c.58579C>A (p.Leu19527Ile) c.55621C>A (p.Leu18541Ile) c.37237C>A (p.Leu12413Ile) c.58732C>A (p.Leu19578Ile) c.58729C>A (p.Leu19577Ile) c.58162C>A (p.Leu19388Ile) c.55504C>A (p.Leu18502Ile) c.55423C>A (p.Leu18475Ile) c.37186C>A (p.Leu12396Ile) c.27040C>A (p.Leu9014Ile) | |
| 2 | g.178586611G>A | CA430264223 | TTN,TTN-AS1 | c.56586C>T (p.Gly18862=) c.37671C>T (p.Gly12557=) c.37470C>T (p.Gly12490=) c.37095C>T (p.Gly12365=) c.64290C>T (p.Gly21430=) c.59367C>T (p.Gly19789=) n.597-10985G>A n.3188+1618G>A c.63387C>T (p.Gly21129=) c.37281C>T (p.Gly12427=) c.37140C>T (p.Gly12380=) c.63183C>T (p.Gly21061=) c.58581C>T (p.Gly19527=) c.58578C>T (p.Gly19526=) c.55620C>T (p.Gly18540=) c.37236C>T (p.Gly12412=) c.58731C>T (p.Gly19577=) c.58728C>T (p.Gly19576=) c.58161C>T (p.Gly19387=) c.55503C>T (p.Gly18501=) c.55422C>T (p.Gly18474=) c.37185C>T (p.Gly12395=) c.27039C>T (p.Gly9013=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178586611G>C | CA430264225 | TTN,TTN-AS1 | c.56586C>G (p.Gly18862=) c.37671C>G (p.Gly12557=) c.37470C>G (p.Gly12490=) c.37095C>G (p.Gly12365=) c.64290C>G (p.Gly21430=) c.59367C>G (p.Gly19789=) n.597-10985G>C n.3188+1618G>C c.63387C>G (p.Gly21129=) c.37281C>G (p.Gly12427=) c.37140C>G (p.Gly12380=) c.63183C>G (p.Gly21061=) c.58581C>G (p.Gly19527=) c.58578C>G (p.Gly19526=) c.55620C>G (p.Gly18540=) c.37236C>G (p.Gly12412=) c.58731C>G (p.Gly19577=) c.58728C>G (p.Gly19576=) c.58161C>G (p.Gly19387=) c.55503C>G (p.Gly18501=) c.55422C>G (p.Gly18474=) c.37185C>G (p.Gly12395=) c.27039C>G (p.Gly9013=) | |
| 2 | g.178586611G= | CA1310537541 | TTN,TTN-AS1 | c.56586C= (p.Gly18862=) c.37671C= (p.Gly12557=) c.37470C= (p.Gly12490=) c.37095C= (p.Gly12365=) c.64290C= (p.Gly21430=) c.59367C= (p.Gly19789=) n.597-10985G= n.3188+1618G= c.63387C= (p.Gly21129=) c.37281C= (p.Gly12427=) c.37140C= (p.Gly12380=) c.63183C= (p.Gly21061=) c.58581C= (p.Gly19527=) c.58578C= (p.Gly19526=) c.55620C= (p.Gly18540=) c.37236C= (p.Gly12412=) c.58731C= (p.Gly19577=) c.58728C= (p.Gly19576=) c.58161C= (p.Gly19387=) c.55503C= (p.Gly18501=) c.55422C= (p.Gly18474=) c.37185C= (p.Gly12395=) c.27039C= (p.Gly9013=) | |
| 2 | g.178586611G>T | CA430264226 | TTN,TTN-AS1 | c.56586C>A (p.Gly18862=) c.37671C>A (p.Gly12557=) c.37470C>A (p.Gly12490=) c.37095C>A (p.Gly12365=) c.64290C>A (p.Gly21430=) c.59367C>A (p.Gly19789=) n.597-10985G>T n.3188+1618G>T c.63387C>A (p.Gly21129=) c.37281C>A (p.Gly12427=) c.37140C>A (p.Gly12380=) c.63183C>A (p.Gly21061=) c.58581C>A (p.Gly19527=) c.58578C>A (p.Gly19526=) c.55620C>A (p.Gly18540=) c.37236C>A (p.Gly12412=) c.58731C>A (p.Gly19577=) c.58728C>A (p.Gly19576=) c.58161C>A (p.Gly19387=) c.55503C>A (p.Gly18501=) c.55422C>A (p.Gly18474=) c.37185C>A (p.Gly12395=) c.27039C>A (p.Gly9013=) | |
| 2 | g.178586612C>A | CA349442022 | TTN,TTN-AS1 | c.56585G>T (p.Gly18862Val) c.37670G>T (p.Gly12557Val) c.37469G>T (p.Gly12490Val) c.37094G>T (p.Gly12365Val) c.64289G>T (p.Gly21430Val) c.59366G>T (p.Gly19789Val) n.597-10984C>A n.3188+1619C>A c.63386G>T (p.Gly21129Val) c.37280G>T (p.Gly12427Val) c.37139G>T (p.Gly12380Val) c.63182G>T (p.Gly21061Val) c.58580G>T (p.Gly19527Val) c.58577G>T (p.Gly19526Val) c.55619G>T (p.Gly18540Val) c.37235G>T (p.Gly12412Val) c.58730G>T (p.Gly19577Val) c.58727G>T (p.Gly19576Val) c.58160G>T (p.Gly19387Val) c.55502G>T (p.Gly18501Val) c.55421G>T (p.Gly18474Val) c.37184G>T (p.Gly12395Val) c.27038G>T (p.Gly9013Val) | |
| 2 | g.178586612C= | CA1310537544 | TTN,TTN-AS1 | c.56585G= (p.Gly18862=) c.37670G= (p.Gly12557=) c.37469G= (p.Gly12490=) c.37094G= (p.Gly12365=) c.64289G= (p.Gly21430=) c.59366G= (p.Gly19789=) n.597-10984C= n.3188+1619C= c.63386G= (p.Gly21129=) c.37280G= (p.Gly12427=) c.37139G= (p.Gly12380=) c.63182G= (p.Gly21061=) c.58580G= (p.Gly19527=) c.58577G= (p.Gly19526=) c.55619G= (p.Gly18540=) c.37235G= (p.Gly12412=) c.58730G= (p.Gly19577=) c.58727G= (p.Gly19576=) c.58160G= (p.Gly19387=) c.55502G= (p.Gly18501=) c.55421G= (p.Gly18474=) c.37184G= (p.Gly12395=) c.27038G= (p.Gly9013=) | |
| 2 | g.178586612C>G | CA349442030 | TTN,TTN-AS1 | c.56585G>C (p.Gly18862Ala) c.37670G>C (p.Gly12557Ala) c.37469G>C (p.Gly12490Ala) c.37094G>C (p.Gly12365Ala) c.64289G>C (p.Gly21430Ala) c.59366G>C (p.Gly19789Ala) n.597-10984C>G n.3188+1619C>G c.63386G>C (p.Gly21129Ala) c.37280G>C (p.Gly12427Ala) c.37139G>C (p.Gly12380Ala) c.63182G>C (p.Gly21061Ala) c.58580G>C (p.Gly19527Ala) c.58577G>C (p.Gly19526Ala) c.55619G>C (p.Gly18540Ala) c.37235G>C (p.Gly12412Ala) c.58730G>C (p.Gly19577Ala) c.58727G>C (p.Gly19576Ala) c.58160G>C (p.Gly19387Ala) c.55502G>C (p.Gly18501Ala) c.55421G>C (p.Gly18474Ala) c.37184G>C (p.Gly12395Ala) c.27038G>C (p.Gly9013Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178586612C>T | CA349442025 | TTN,TTN-AS1 | c.56585G>A (p.Gly18862Asp) c.37670G>A (p.Gly12557Asp) c.37469G>A (p.Gly12490Asp) c.37094G>A (p.Gly12365Asp) c.64289G>A (p.Gly21430Asp) c.59366G>A (p.Gly19789Asp) n.597-10984C>T n.3188+1619C>T c.63386G>A (p.Gly21129Asp) c.37280G>A (p.Gly12427Asp) c.37139G>A (p.Gly12380Asp) c.63182G>A (p.Gly21061Asp) c.58580G>A (p.Gly19527Asp) c.58577G>A (p.Gly19526Asp) c.55619G>A (p.Gly18540Asp) c.37235G>A (p.Gly12412Asp) c.58730G>A (p.Gly19577Asp) c.58727G>A (p.Gly19576Asp) c.58160G>A (p.Gly19387Asp) c.55502G>A (p.Gly18501Asp) c.55421G>A (p.Gly18474Asp) c.37184G>A (p.Gly12395Asp) c.27038G>A (p.Gly9013Asp) | gnomAD v4 |
| 2 | g.178586613C>A | CA349442033 | TTN,TTN-AS1 | c.56584G>T (p.Gly18862Cys) c.37669G>T (p.Gly12557Cys) c.37468G>T (p.Gly12490Cys) c.37093G>T (p.Gly12365Cys) c.64288G>T (p.Gly21430Cys) c.59365G>T (p.Gly19789Cys) n.597-10983C>A n.3188+1620C>A c.63385G>T (p.Gly21129Cys) c.37279G>T (p.Gly12427Cys) c.37138G>T (p.Gly12380Cys) c.63181G>T (p.Gly21061Cys) c.58579G>T (p.Gly19527Cys) c.58576G>T (p.Gly19526Cys) c.55618G>T (p.Gly18540Cys) c.37234G>T (p.Gly12412Cys) c.58729G>T (p.Gly19577Cys) c.58726G>T (p.Gly19576Cys) c.58159G>T (p.Gly19387Cys) c.55501G>T (p.Gly18501Cys) c.55420G>T (p.Gly18474Cys) c.37183G>T (p.Gly12395Cys) c.27037G>T (p.Gly9013Cys) | |
| 2 | g.178586613C= | CA1310537546 | TTN,TTN-AS1 | c.56584G= (p.Gly18862=) c.37669G= (p.Gly12557=) c.37468G= (p.Gly12490=) c.37093G= (p.Gly12365=) c.64288G= (p.Gly21430=) c.59365G= (p.Gly19789=) n.597-10983C= n.3188+1620C= c.63385G= (p.Gly21129=) c.37279G= (p.Gly12427=) c.37138G= (p.Gly12380=) c.63181G= (p.Gly21061=) c.58579G= (p.Gly19527=) c.58576G= (p.Gly19526=) c.55618G= (p.Gly18540=) c.37234G= (p.Gly12412=) c.58729G= (p.Gly19577=) c.58726G= (p.Gly19576=) c.58159G= (p.Gly19387=) c.55501G= (p.Gly18501=) c.55420G= (p.Gly18474=) c.37183G= (p.Gly12395=) c.27037G= (p.Gly9013=) | |
| 2 | g.178586613C>G | CA349442037 | TTN,TTN-AS1 | c.56584G>C (p.Gly18862Arg) c.37669G>C (p.Gly12557Arg) c.37468G>C (p.Gly12490Arg) c.37093G>C (p.Gly12365Arg) c.64288G>C (p.Gly21430Arg) c.59365G>C (p.Gly19789Arg) n.597-10983C>G n.3188+1620C>G c.63385G>C (p.Gly21129Arg) c.37279G>C (p.Gly12427Arg) c.37138G>C (p.Gly12380Arg) c.63181G>C (p.Gly21061Arg) c.58579G>C (p.Gly19527Arg) c.58576G>C (p.Gly19526Arg) c.55618G>C (p.Gly18540Arg) c.37234G>C (p.Gly12412Arg) c.58729G>C (p.Gly19577Arg) c.58726G>C (p.Gly19576Arg) c.58159G>C (p.Gly19387Arg) c.55501G>C (p.Gly18501Arg) c.55420G>C (p.Gly18474Arg) c.37183G>C (p.Gly12395Arg) c.27037G>C (p.Gly9013Arg) | |
| 2 | g.178586613C>T | CA349442058 | TTN,TTN-AS1 | c.56584G>A (p.Gly18862Ser) c.37669G>A (p.Gly12557Ser) c.37468G>A (p.Gly12490Ser) c.37093G>A (p.Gly12365Ser) c.64288G>A (p.Gly21430Ser) c.59365G>A (p.Gly19789Ser) n.597-10983C>T n.3188+1620C>T c.63385G>A (p.Gly21129Ser) c.37279G>A (p.Gly12427Ser) c.37138G>A (p.Gly12380Ser) c.63181G>A (p.Gly21061Ser) c.58579G>A (p.Gly19527Ser) c.58576G>A (p.Gly19526Ser) c.55618G>A (p.Gly18540Ser) c.37234G>A (p.Gly12412Ser) c.58729G>A (p.Gly19577Ser) c.58726G>A (p.Gly19576Ser) c.58159G>A (p.Gly19387Ser) c.55501G>A (p.Gly18501Ser) c.55420G>A (p.Gly18474Ser) c.37183G>A (p.Gly12395Ser) c.27037G>A (p.Gly9013Ser) | dbSNP gnomAD v4 |
| 2 | g.178586613_178586614delinsCA | CA1310537548 | TTN,TTN-AS1 | c.56583_56584delinsTG (p.Thr18861=) c.37668_37669delinsTG (p.Thr12556=) c.37467_37468delinsTG (p.Thr12489=) c.37092_37093delinsTG (p.Thr12364=) c.64287_64288delinsTG (p.Thr21429=) c.59364_59365delinsTG (p.Thr19788=) n.597-10983_597-10982delinsCA n.3188+1620_3188+1621delinsCA c.63384_63385delinsTG (p.Thr21128=) c.37278_37279delinsTG (p.Thr12426=) c.37137_37138delinsTG (p.Thr12379=) c.63180_63181delinsTG (p.Thr21060=) c.58578_58579delinsTG (p.Thr19526=) c.58575_58576delinsTG (p.Thr19525=) c.55617_55618delinsTG (p.Thr18539=) c.37233_37234delinsTG (p.Thr12411=) c.58728_58729delinsTG (p.Thr19576=) c.58725_58726delinsTG (p.Thr19575=) c.58158_58159delinsTG (p.Thr19386=) c.55500_55501delinsTG (p.Thr18500=) c.55419_55420delinsTG (p.Thr18473=) c.37182_37183delinsTG (p.Thr12394=) c.27036_27037delinsTG (p.Thr9012=) | |
| 2 | g.178586614del | CA916081369 | TTN,TTN-AS1 | c.56583del (p.Gly18862AlafsTer2) c.37668del (p.Gly12557AlafsTer2) c.37467del (p.Gly12490AlafsTer2) c.37092del (p.Gly12365AlafsTer2) c.64287del (p.Gly21430AlafsTer2) c.59364del (p.Gly19789AlafsTer2) n.597-10982del n.3188+1621del c.63384del (p.Gly21129AlafsTer2) c.37278del (p.Gly12427AlafsTer2) c.37137del (p.Gly12380AlafsTer2) c.63180del (p.Gly21061AlafsTer2) c.58578del (p.Gly19527AlafsTer2) c.58575del (p.Gly19526AlafsTer2) c.55617del (p.Gly18540AlafsTer2) c.37233del (p.Gly12412AlafsTer2) c.58728del (p.Gly19577AlafsTer2) c.58725del (p.Gly19576AlafsTer2) c.58158del (p.Gly19387AlafsTer2) c.55500del (p.Gly18501AlafsTer2) c.55419del (p.Gly18474AlafsTer2) c.37182del (p.Gly12395AlafsTer2) c.27036del (p.Gly9013AlafsTer2) | ClinVar dbSNP |
| 2 | g.178586614A>C | CA430264228 | TTN,TTN-AS1 | c.56583T>G (p.Thr18861=) c.37668T>G (p.Thr12556=) c.37467T>G (p.Thr12489=) c.37092T>G (p.Thr12364=) c.64287T>G (p.Thr21429=) c.59364T>G (p.Thr19788=) n.597-10982A>C n.3188+1621A>C c.63384T>G (p.Thr21128=) c.37278T>G (p.Thr12426=) c.37137T>G (p.Thr12379=) c.63180T>G (p.Thr21060=) c.58578T>G (p.Thr19526=) c.58575T>G (p.Thr19525=) c.55617T>G (p.Thr18539=) c.37233T>G (p.Thr12411=) c.58728T>G (p.Thr19576=) c.58725T>G (p.Thr19575=) c.58158T>G (p.Thr19386=) c.55500T>G (p.Thr18500=) c.55419T>G (p.Thr18473=) c.37182T>G (p.Thr12394=) c.27036T>G (p.Thr9012=) | |
| 2 | g.178586614A>G | CA430264229 | TTN,TTN-AS1 | c.56583T>C (p.Thr18861=) c.37668T>C (p.Thr12556=) c.37467T>C (p.Thr12489=) c.37092T>C (p.Thr12364=) c.64287T>C (p.Thr21429=) c.59364T>C (p.Thr19788=) n.597-10982A>G n.3188+1621A>G c.63384T>C (p.Thr21128=) c.37278T>C (p.Thr12426=) c.37137T>C (p.Thr12379=) c.63180T>C (p.Thr21060=) c.58578T>C (p.Thr19526=) c.58575T>C (p.Thr19525=) c.55617T>C (p.Thr18539=) c.37233T>C (p.Thr12411=) c.58728T>C (p.Thr19576=) c.58725T>C (p.Thr19575=) c.58158T>C (p.Thr19386=) c.55500T>C (p.Thr18500=) c.55419T>C (p.Thr18473=) c.37182T>C (p.Thr12394=) c.27036T>C (p.Thr9012=) | |
| 2 | g.178586614A>T | CA430264230 | TTN,TTN-AS1 | c.56583T>A (p.Thr18861=) c.37668T>A (p.Thr12556=) c.37467T>A (p.Thr12489=) c.37092T>A (p.Thr12364=) c.64287T>A (p.Thr21429=) c.59364T>A (p.Thr19788=) n.597-10982A>T n.3188+1621A>T c.63384T>A (p.Thr21128=) c.37278T>A (p.Thr12426=) c.37137T>A (p.Thr12379=) c.63180T>A (p.Thr21060=) c.58578T>A (p.Thr19526=) c.58575T>A (p.Thr19525=) c.55617T>A (p.Thr18539=) c.37233T>A (p.Thr12411=) c.58728T>A (p.Thr19576=) c.58725T>A (p.Thr19575=) c.58158T>A (p.Thr19386=) c.55500T>A (p.Thr18500=) c.55419T>A (p.Thr18473=) c.37182T>A (p.Thr12394=) c.27036T>A (p.Thr9012=) | |
| 2 | g.178586615G>A | CA349442061 | TTN,TTN-AS1 | c.56582C>T (p.Thr18861Ile) c.37667C>T (p.Thr12556Ile) c.37466C>T (p.Thr12489Ile) c.37091C>T (p.Thr12364Ile) c.64286C>T (p.Thr21429Ile) c.59363C>T (p.Thr19788Ile) n.597-10981G>A n.3188+1622G>A c.63383C>T (p.Thr21128Ile) c.37277C>T (p.Thr12426Ile) c.37136C>T (p.Thr12379Ile) c.63179C>T (p.Thr21060Ile) c.58577C>T (p.Thr19526Ile) c.58574C>T (p.Thr19525Ile) c.55616C>T (p.Thr18539Ile) c.37232C>T (p.Thr12411Ile) c.58727C>T (p.Thr19576Ile) c.58724C>T (p.Thr19575Ile) c.58157C>T (p.Thr19386Ile) c.55499C>T (p.Thr18500Ile) c.55418C>T (p.Thr18473Ile) c.37181C>T (p.Thr12394Ile) c.27035C>T (p.Thr9012Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178586615G>C | CA349442066 | TTN,TTN-AS1 | c.56582C>G (p.Thr18861Ser) c.37667C>G (p.Thr12556Ser) c.37466C>G (p.Thr12489Ser) c.37091C>G (p.Thr12364Ser) c.64286C>G (p.Thr21429Ser) c.59363C>G (p.Thr19788Ser) n.597-10981G>C n.3188+1622G>C c.63383C>G (p.Thr21128Ser) c.37277C>G (p.Thr12426Ser) c.37136C>G (p.Thr12379Ser) c.63179C>G (p.Thr21060Ser) c.58577C>G (p.Thr19526Ser) c.58574C>G (p.Thr19525Ser) c.55616C>G (p.Thr18539Ser) c.37232C>G (p.Thr12411Ser) c.58727C>G (p.Thr19576Ser) c.58724C>G (p.Thr19575Ser) c.58157C>G (p.Thr19386Ser) c.55499C>G (p.Thr18500Ser) c.55418C>G (p.Thr18473Ser) c.37181C>G (p.Thr12394Ser) c.27035C>G (p.Thr9012Ser) | |
| 2 | g.178586615G= | CA1310537556 | TTN,TTN-AS1 | c.56582C= (p.Thr18861=) c.37667C= (p.Thr12556=) c.37466C= (p.Thr12489=) c.37091C= (p.Thr12364=) c.64286C= (p.Thr21429=) c.59363C= (p.Thr19788=) n.597-10981G= n.3188+1622G= c.63383C= (p.Thr21128=) c.37277C= (p.Thr12426=) c.37136C= (p.Thr12379=) c.63179C= (p.Thr21060=) c.58577C= (p.Thr19526=) c.58574C= (p.Thr19525=) c.55616C= (p.Thr18539=) c.37232C= (p.Thr12411=) c.58727C= (p.Thr19576=) c.58724C= (p.Thr19575=) c.58157C= (p.Thr19386=) c.55499C= (p.Thr18500=) c.55418C= (p.Thr18473=) c.37181C= (p.Thr12394=) c.27035C= (p.Thr9012=) | |
| 2 | g.178586615G>T | CA349442072 | TTN,TTN-AS1 | c.56582C>A (p.Thr18861Asn) c.37667C>A (p.Thr12556Asn) c.37466C>A (p.Thr12489Asn) c.37091C>A (p.Thr12364Asn) c.64286C>A (p.Thr21429Asn) c.59363C>A (p.Thr19788Asn) n.597-10981G>T n.3188+1622G>T c.63383C>A (p.Thr21128Asn) c.37277C>A (p.Thr12426Asn) c.37136C>A (p.Thr12379Asn) c.63179C>A (p.Thr21060Asn) c.58577C>A (p.Thr19526Asn) c.58574C>A (p.Thr19525Asn) c.55616C>A (p.Thr18539Asn) c.37232C>A (p.Thr12411Asn) c.58727C>A (p.Thr19576Asn) c.58724C>A (p.Thr19575Asn) c.58157C>A (p.Thr19386Asn) c.55499C>A (p.Thr18500Asn) c.55418C>A (p.Thr18473Asn) c.37181C>A (p.Thr12394Asn) c.27035C>A (p.Thr9012Asn) | |
| 2 | g.178586616T>A | CA349442075 | TTN,TTN-AS1 | c.56581A>T (p.Thr18861Ser) c.37666A>T (p.Thr12556Ser) c.37465A>T (p.Thr12489Ser) c.37090A>T (p.Thr12364Ser) c.64285A>T (p.Thr21429Ser) c.59362A>T (p.Thr19788Ser) n.597-10980T>A n.3188+1623T>A c.63382A>T (p.Thr21128Ser) c.37276A>T (p.Thr12426Ser) c.37135A>T (p.Thr12379Ser) c.63178A>T (p.Thr21060Ser) c.58576A>T (p.Thr19526Ser) c.58573A>T (p.Thr19525Ser) c.55615A>T (p.Thr18539Ser) c.37231A>T (p.Thr12411Ser) c.58726A>T (p.Thr19576Ser) c.58723A>T (p.Thr19575Ser) c.58156A>T (p.Thr19386Ser) c.55498A>T (p.Thr18500Ser) c.55417A>T (p.Thr18473Ser) c.37180A>T (p.Thr12394Ser) c.27034A>T (p.Thr9012Ser) | |
| 2 | g.178586616T>C | CA349442076 | TTN,TTN-AS1 | c.56581A>G (p.Thr18861Ala) c.37666A>G (p.Thr12556Ala) c.37465A>G (p.Thr12489Ala) c.37090A>G (p.Thr12364Ala) c.64285A>G (p.Thr21429Ala) c.59362A>G (p.Thr19788Ala) n.597-10980T>C n.3188+1623T>C c.63382A>G (p.Thr21128Ala) c.37276A>G (p.Thr12426Ala) c.37135A>G (p.Thr12379Ala) c.63178A>G (p.Thr21060Ala) c.58576A>G (p.Thr19526Ala) c.58573A>G (p.Thr19525Ala) c.55615A>G (p.Thr18539Ala) c.37231A>G (p.Thr12411Ala) c.58726A>G (p.Thr19576Ala) c.58723A>G (p.Thr19575Ala) c.58156A>G (p.Thr19386Ala) c.55498A>G (p.Thr18500Ala) c.55417A>G (p.Thr18473Ala) c.37180A>G (p.Thr12394Ala) c.27034A>G (p.Thr9012Ala) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178586616T>G | CA349442077 | TTN,TTN-AS1 | c.56581A>C (p.Thr18861Pro) c.37666A>C (p.Thr12556Pro) c.37465A>C (p.Thr12489Pro) c.37090A>C (p.Thr12364Pro) c.64285A>C (p.Thr21429Pro) c.59362A>C (p.Thr19788Pro) n.597-10980T>G n.3188+1623T>G c.63382A>C (p.Thr21128Pro) c.37276A>C (p.Thr12426Pro) c.37135A>C (p.Thr12379Pro) c.63178A>C (p.Thr21060Pro) c.58576A>C (p.Thr19526Pro) c.58573A>C (p.Thr19525Pro) c.55615A>C (p.Thr18539Pro) c.37231A>C (p.Thr12411Pro) c.58726A>C (p.Thr19576Pro) c.58723A>C (p.Thr19575Pro) c.58156A>C (p.Thr19386Pro) c.55498A>C (p.Thr18500Pro) c.55417A>C (p.Thr18473Pro) c.37180A>C (p.Thr12394Pro) c.27034A>C (p.Thr9012Pro) | |
| 2 | g.178586617G>A | CA430264231 | TTN,TTN-AS1 | c.56580C>T (p.Val18860=) c.37665C>T (p.Val12555=) c.37464C>T (p.Val12488=) c.37089C>T (p.Val12363=) c.64284C>T (p.Val21428=) c.59361C>T (p.Val19787=) n.597-10979G>A n.3188+1624G>A c.63381C>T (p.Val21127=) c.37275C>T (p.Val12425=) c.37134C>T (p.Val12378=) c.63177C>T (p.Val21059=) c.58575C>T (p.Val19525=) c.58572C>T (p.Val19524=) c.55614C>T (p.Val18538=) c.37230C>T (p.Val12410=) c.58725C>T (p.Val19575=) c.58722C>T (p.Val19574=) c.58155C>T (p.Val19385=) c.55497C>T (p.Val18499=) c.55416C>T (p.Val18472=) c.37179C>T (p.Val12393=) c.27033C>T (p.Val9011=) | gnomAD v4 |
| 2 | g.178586617G>C | CA430264233 | TTN,TTN-AS1 | c.56580C>G (p.Val18860=) c.37665C>G (p.Val12555=) c.37464C>G (p.Val12488=) c.37089C>G (p.Val12363=) c.64284C>G (p.Val21428=) c.59361C>G (p.Val19787=) n.597-10979G>C n.3188+1624G>C c.63381C>G (p.Val21127=) c.37275C>G (p.Val12425=) c.37134C>G (p.Val12378=) c.63177C>G (p.Val21059=) c.58575C>G (p.Val19525=) c.58572C>G (p.Val19524=) c.55614C>G (p.Val18538=) c.37230C>G (p.Val12410=) c.58725C>G (p.Val19575=) c.58722C>G (p.Val19574=) c.58155C>G (p.Val19385=) c.55497C>G (p.Val18499=) c.55416C>G (p.Val18472=) c.37179C>G (p.Val12393=) c.27033C>G (p.Val9011=) | |
| 2 | g.178586617G>T | CA430264234 | TTN,TTN-AS1 | c.56580C>A (p.Val18860=) c.37665C>A (p.Val12555=) c.37464C>A (p.Val12488=) c.37089C>A (p.Val12363=) c.64284C>A (p.Val21428=) c.59361C>A (p.Val19787=) n.597-10979G>T n.3188+1624G>T c.63381C>A (p.Val21127=) c.37275C>A (p.Val12425=) c.37134C>A (p.Val12378=) c.63177C>A (p.Val21059=) c.58575C>A (p.Val19525=) c.58572C>A (p.Val19524=) c.55614C>A (p.Val18538=) c.37230C>A (p.Val12410=) c.58725C>A (p.Val19575=) c.58722C>A (p.Val19574=) c.58155C>A (p.Val19385=) c.55497C>A (p.Val18499=) c.55416C>A (p.Val18472=) c.37179C>A (p.Val12393=) c.27033C>A (p.Val9011=) | |
| 2 | g.178586617_178586620delinsGACA | CA1310537558 | TTN,TTN-AS1 | c.56577_56580delinsTGTC (p.Val18859=) c.37662_37665delinsTGTC (p.Val12554=) c.37461_37464delinsTGTC (p.Val12487=) c.37086_37089delinsTGTC (p.Val12362=) c.64281_64284delinsTGTC (p.Val21427=) c.59358_59361delinsTGTC (p.Val19786=) n.597-10979_597-10976delinsGACA n.3188+1624_3188+1627delinsGACA c.63378_63381delinsTGTC (p.Val21126=) c.37272_37275delinsTGTC (p.Val12424=) c.37131_37134delinsTGTC (p.Val12377=) c.63174_63177delinsTGTC (p.Val21058=) c.58572_58575delinsTGTC (p.Val19524=) c.58569_58572delinsTGTC (p.Val19523=) c.55611_55614delinsTGTC (p.Val18537=) c.37227_37230delinsTGTC (p.Val12409=) c.58722_58725delinsTGTC (p.Val19574=) c.58719_58722delinsTGTC (p.Val19573=) c.58152_58155delinsTGTC (p.Val19384=) c.55494_55497delinsTGTC (p.Val18498=) c.55413_55416delinsTGTC (p.Val18471=) c.37176_37179delinsTGTC (p.Val12392=) c.27030_27033delinsTGTC (p.Val9010=) | |
| 2 | g.178586618A= | CA1310537563 | TTN,TTN-AS1 | c.56579T= (p.Val18860=) c.37664T= (p.Val12555=) c.37463T= (p.Val12488=) c.37088T= (p.Val12363=) c.64283T= (p.Val21428=) c.59360T= (p.Val19787=) n.597-10978A= n.3188+1625A= c.63380T= (p.Val21127=) c.37274T= (p.Val12425=) c.37133T= (p.Val12378=) c.63176T= (p.Val21059=) c.58574T= (p.Val19525=) c.58571T= (p.Val19524=) c.55613T= (p.Val18538=) c.37229T= (p.Val12410=) c.58724T= (p.Val19575=) c.58721T= (p.Val19574=) c.58154T= (p.Val19385=) c.55496T= (p.Val18499=) c.55415T= (p.Val18472=) c.37178T= (p.Val12393=) c.27032T= (p.Val9011=) | |
| 2 | g.178586618A>C | CA349442083 | TTN,TTN-AS1 | c.56579T>G (p.Val18860Gly) c.37664T>G (p.Val12555Gly) c.37463T>G (p.Val12488Gly) c.37088T>G (p.Val12363Gly) c.64283T>G (p.Val21428Gly) c.59360T>G (p.Val19787Gly) n.597-10978A>C n.3188+1625A>C c.63380T>G (p.Val21127Gly) c.37274T>G (p.Val12425Gly) c.37133T>G (p.Val12378Gly) c.63176T>G (p.Val21059Gly) c.58574T>G (p.Val19525Gly) c.58571T>G (p.Val19524Gly) c.55613T>G (p.Val18538Gly) c.37229T>G (p.Val12410Gly) c.58724T>G (p.Val19575Gly) c.58721T>G (p.Val19574Gly) c.58154T>G (p.Val19385Gly) c.55496T>G (p.Val18499Gly) c.55415T>G (p.Val18472Gly) c.37178T>G (p.Val12393Gly) c.27032T>G (p.Val9011Gly) | |
| 2 | g.178586618A>G | CA349442081 | TTN,TTN-AS1 | c.56579T>C (p.Val18860Ala) c.37664T>C (p.Val12555Ala) c.37463T>C (p.Val12488Ala) c.37088T>C (p.Val12363Ala) c.64283T>C (p.Val21428Ala) c.59360T>C (p.Val19787Ala) n.597-10978A>G n.3188+1625A>G c.63380T>C (p.Val21127Ala) c.37274T>C (p.Val12425Ala) c.37133T>C (p.Val12378Ala) c.63176T>C (p.Val21059Ala) c.58574T>C (p.Val19525Ala) c.58571T>C (p.Val19524Ala) c.55613T>C (p.Val18538Ala) c.37229T>C (p.Val12410Ala) c.58724T>C (p.Val19575Ala) c.58721T>C (p.Val19574Ala) c.58154T>C (p.Val19385Ala) c.55496T>C (p.Val18499Ala) c.55415T>C (p.Val18472Ala) c.37178T>C (p.Val12393Ala) c.27032T>C (p.Val9011Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178586618A>T | CA349442089 | TTN,TTN-AS1 | c.56579T>A (p.Val18860Asp) c.37664T>A (p.Val12555Asp) c.37463T>A (p.Val12488Asp) c.37088T>A (p.Val12363Asp) c.64283T>A (p.Val21428Asp) c.59360T>A (p.Val19787Asp) n.597-10978A>T n.3188+1625A>T c.63380T>A (p.Val21127Asp) c.37274T>A (p.Val12425Asp) c.37133T>A (p.Val12378Asp) c.63176T>A (p.Val21059Asp) c.58574T>A (p.Val19525Asp) c.58571T>A (p.Val19524Asp) c.55613T>A (p.Val18538Asp) c.37229T>A (p.Val12410Asp) c.58724T>A (p.Val19575Asp) c.58721T>A (p.Val19574Asp) c.58154T>A (p.Val19385Asp) c.55496T>A (p.Val18499Asp) c.55415T>A (p.Val18472Asp) c.37178T>A (p.Val12393Asp) c.27032T>A (p.Val9011Asp) |