Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530119_178530242del | CA2753330714 | TTN,TTN-AS1 | c.98670+2_98671del c.79755+2_79756del c.79554+2_79555del c.79179+2_79180del c.106374+2_106375del c.101451+2_101452del n.446+6483_446+6606del n.220-5613_220-5490del c.105471+2_105472del c.79365+2_79366del c.79224+2_79225del c.105267+2_105268del c.100665+2_100666del c.100662+2_100663del c.97704+2_97705del c.79320+2_79321del c.100815+2_100816del c.100812+2_100813del c.100245+2_100246del c.97587+2_97588del c.97506+2_97507del c.79269+2_79270del c.69123+2_69124del | |
2 | g.178530242T>A | CA349405731 | TTN,TTN-AS1 | c.98669A>T (p.Lys32890Met) c.79754A>T (p.Lys26585Met) c.79553A>T (p.Lys26518Met) c.79178A>T (p.Lys26393Met) c.106373A>T (p.Lys35458Met) c.101450A>T (p.Lys33817Met) n.446+6606T>A n.220-5490T>A c.105470A>T (p.Lys35157Met) c.79364A>T (p.Lys26455Met) c.79223A>T (p.Lys26408Met) c.105266A>T (p.Lys35089Met) c.100664A>T (p.Lys33555Met) c.100661A>T (p.Lys33554Met) c.97703A>T (p.Lys32568Met) c.79319A>T (p.Lys26440Met) c.100814A>T (p.Lys33605Met) c.100811A>T (p.Lys33604Met) c.100244A>T (p.Lys33415Met) c.97586A>T (p.Lys32529Met) c.97505A>T (p.Lys32502Met) c.79268A>T (p.Lys26423Met) c.69122A>T (p.Lys23041Met) | |
2 | g.178530242T>C | CA349405734 | TTN,TTN-AS1 | c.98669A>G (p.Lys32890Arg) c.79754A>G (p.Lys26585Arg) c.79553A>G (p.Lys26518Arg) c.79178A>G (p.Lys26393Arg) c.106373A>G (p.Lys35458Arg) c.101450A>G (p.Lys33817Arg) n.446+6606T>C n.220-5490T>C c.105470A>G (p.Lys35157Arg) c.79364A>G (p.Lys26455Arg) c.79223A>G (p.Lys26408Arg) c.105266A>G (p.Lys35089Arg) c.100664A>G (p.Lys33555Arg) c.100661A>G (p.Lys33554Arg) c.97703A>G (p.Lys32568Arg) c.79319A>G (p.Lys26440Arg) c.100814A>G (p.Lys33605Arg) c.100811A>G (p.Lys33604Arg) c.100244A>G (p.Lys33415Arg) c.97586A>G (p.Lys32529Arg) c.97505A>G (p.Lys32502Arg) c.79268A>G (p.Lys26423Arg) c.69122A>G (p.Lys23041Arg) | dbSNP |
2 | g.178530242T>G | CA349405737 | TTN,TTN-AS1 | c.98669A>C (p.Lys32890Thr) c.79754A>C (p.Lys26585Thr) c.79553A>C (p.Lys26518Thr) c.79178A>C (p.Lys26393Thr) c.106373A>C (p.Lys35458Thr) c.101450A>C (p.Lys33817Thr) n.446+6606T>G n.220-5490T>G c.105470A>C (p.Lys35157Thr) c.79364A>C (p.Lys26455Thr) c.79223A>C (p.Lys26408Thr) c.105266A>C (p.Lys35089Thr) c.100664A>C (p.Lys33555Thr) c.100661A>C (p.Lys33554Thr) c.97703A>C (p.Lys32568Thr) c.79319A>C (p.Lys26440Thr) c.100814A>C (p.Lys33605Thr) c.100811A>C (p.Lys33604Thr) c.100244A>C (p.Lys33415Thr) c.97586A>C (p.Lys32529Thr) c.97505A>C (p.Lys32502Thr) c.79268A>C (p.Lys26423Thr) c.69122A>C (p.Lys23041Thr) | gnomAD v4 |
2 | g.178530242T= | CA1310511652 | TTN,TTN-AS1 | c.98669A= (p.Lys32890=) c.79754A= (p.Lys26585=) c.79553A= (p.Lys26518=) c.79178A= (p.Lys26393=) c.106373A= (p.Lys35458=) c.101450A= (p.Lys33817=) n.446+6606T= n.220-5490T= c.105470A= (p.Lys35157=) c.79364A= (p.Lys26455=) c.79223A= (p.Lys26408=) c.105266A= (p.Lys35089=) c.100664A= (p.Lys33555=) c.100661A= (p.Lys33554=) c.97703A= (p.Lys32568=) c.79319A= (p.Lys26440=) c.100814A= (p.Lys33605=) c.100811A= (p.Lys33604=) c.100244A= (p.Lys33415=) c.97586A= (p.Lys32529=) c.97505A= (p.Lys32502=) c.79268A= (p.Lys26423=) c.69122A= (p.Lys23041=) | |
2 | g.178530243T>A | CA349405747 | TTN,TTN-AS1 | c.98668A>T (p.Lys32890Ter) c.79753A>T (p.Lys26585Ter) c.79552A>T (p.Lys26518Ter) c.79177A>T (p.Lys26393Ter) c.106372A>T (p.Lys35458Ter) c.101449A>T (p.Lys33817Ter) n.446+6607T>A n.220-5489T>A c.105469A>T (p.Lys35157Ter) c.79363A>T (p.Lys26455Ter) c.79222A>T (p.Lys26408Ter) c.105265A>T (p.Lys35089Ter) c.100663A>T (p.Lys33555Ter) c.100660A>T (p.Lys33554Ter) c.97702A>T (p.Lys32568Ter) c.79318A>T (p.Lys26440Ter) c.100813A>T (p.Lys33605Ter) c.100810A>T (p.Lys33604Ter) c.100243A>T (p.Lys33415Ter) c.97585A>T (p.Lys32529Ter) c.97504A>T (p.Lys32502Ter) c.79267A>T (p.Lys26423Ter) c.69121A>T (p.Lys23041Ter) | |
2 | g.178530243T>C | CA349405749 | TTN,TTN-AS1 | c.98668A>G (p.Lys32890Glu) c.79753A>G (p.Lys26585Glu) c.79552A>G (p.Lys26518Glu) c.79177A>G (p.Lys26393Glu) c.106372A>G (p.Lys35458Glu) c.101449A>G (p.Lys33817Glu) n.446+6607T>C n.220-5489T>C c.105469A>G (p.Lys35157Glu) c.79363A>G (p.Lys26455Glu) c.79222A>G (p.Lys26408Glu) c.105265A>G (p.Lys35089Glu) c.100663A>G (p.Lys33555Glu) c.100660A>G (p.Lys33554Glu) c.97702A>G (p.Lys32568Glu) c.79318A>G (p.Lys26440Glu) c.100813A>G (p.Lys33605Glu) c.100810A>G (p.Lys33604Glu) c.100243A>G (p.Lys33415Glu) c.97585A>G (p.Lys32529Glu) c.97504A>G (p.Lys32502Glu) c.79267A>G (p.Lys26423Glu) c.69121A>G (p.Lys23041Glu) | ClinVar gnomAD v4 |
2 | g.178530243T>G | CA349405753 | TTN,TTN-AS1 | c.98668A>C (p.Lys32890Gln) c.79753A>C (p.Lys26585Gln) c.79552A>C (p.Lys26518Gln) c.79177A>C (p.Lys26393Gln) c.106372A>C (p.Lys35458Gln) c.101449A>C (p.Lys33817Gln) n.446+6607T>G n.220-5489T>G c.105469A>C (p.Lys35157Gln) c.79363A>C (p.Lys26455Gln) c.79222A>C (p.Lys26408Gln) c.105265A>C (p.Lys35089Gln) c.100663A>C (p.Lys33555Gln) c.100660A>C (p.Lys33554Gln) c.97702A>C (p.Lys32568Gln) c.79318A>C (p.Lys26440Gln) c.100813A>C (p.Lys33605Gln) c.100810A>C (p.Lys33604Gln) c.100243A>C (p.Lys33415Gln) c.97585A>C (p.Lys32529Gln) c.97504A>C (p.Lys32502Gln) c.79267A>C (p.Lys26423Gln) c.69121A>C (p.Lys23041Gln) | |
2 | g.178530244T>A | CA430234993 | TTN,TTN-AS1 | c.98667A>T (p.Gly32889=) c.79752A>T (p.Gly26584=) c.79551A>T (p.Gly26517=) c.79176A>T (p.Gly26392=) c.106371A>T (p.Gly35457=) c.101448A>T (p.Gly33816=) n.446+6608T>A n.220-5488T>A c.105468A>T (p.Gly35156=) c.79362A>T (p.Gly26454=) c.79221A>T (p.Gly26407=) c.105264A>T (p.Gly35088=) c.100662A>T (p.Gly33554=) c.100659A>T (p.Gly33553=) c.97701A>T (p.Gly32567=) c.79317A>T (p.Gly26439=) c.100812A>T (p.Gly33604=) c.100809A>T (p.Gly33603=) c.100242A>T (p.Gly33414=) c.97584A>T (p.Gly32528=) c.97503A>T (p.Gly32501=) c.79266A>T (p.Gly26422=) c.69120A>T (p.Gly23040=) | |
2 | g.178530244T>C | CA430234995 | TTN,TTN-AS1 | c.98667A>G (p.Gly32889=) c.79752A>G (p.Gly26584=) c.79551A>G (p.Gly26517=) c.79176A>G (p.Gly26392=) c.106371A>G (p.Gly35457=) c.101448A>G (p.Gly33816=) n.446+6608T>C n.220-5488T>C c.105468A>G (p.Gly35156=) c.79362A>G (p.Gly26454=) c.79221A>G (p.Gly26407=) c.105264A>G (p.Gly35088=) c.100662A>G (p.Gly33554=) c.100659A>G (p.Gly33553=) c.97701A>G (p.Gly32567=) c.79317A>G (p.Gly26439=) c.100812A>G (p.Gly33604=) c.100809A>G (p.Gly33603=) c.100242A>G (p.Gly33414=) c.97584A>G (p.Gly32528=) c.97503A>G (p.Gly32501=) c.79266A>G (p.Gly26422=) c.69120A>G (p.Gly23040=) | |
2 | g.178530244T>G | CA430234996 | TTN,TTN-AS1 | c.98667A>C (p.Gly32889=) c.79752A>C (p.Gly26584=) c.79551A>C (p.Gly26517=) c.79176A>C (p.Gly26392=) c.106371A>C (p.Gly35457=) c.101448A>C (p.Gly33816=) n.446+6608T>G n.220-5488T>G c.105468A>C (p.Gly35156=) c.79362A>C (p.Gly26454=) c.79221A>C (p.Gly26407=) c.105264A>C (p.Gly35088=) c.100662A>C (p.Gly33554=) c.100659A>C (p.Gly33553=) c.97701A>C (p.Gly32567=) c.79317A>C (p.Gly26439=) c.100812A>C (p.Gly33604=) c.100809A>C (p.Gly33603=) c.100242A>C (p.Gly33414=) c.97584A>C (p.Gly32528=) c.97503A>C (p.Gly32501=) c.79266A>C (p.Gly26422=) c.69120A>C (p.Gly23040=) | |
2 | g.178530245C>A | CA349405762 | TTN,TTN-AS1 | c.98666G>T (p.Gly32889Val) c.79751G>T (p.Gly26584Val) c.79550G>T (p.Gly26517Val) c.79175G>T (p.Gly26392Val) c.106370G>T (p.Gly35457Val) c.101447G>T (p.Gly33816Val) n.446+6609C>A n.220-5487C>A c.105467G>T (p.Gly35156Val) c.79361G>T (p.Gly26454Val) c.79220G>T (p.Gly26407Val) c.105263G>T (p.Gly35088Val) c.100661G>T (p.Gly33554Val) c.100658G>T (p.Gly33553Val) c.97700G>T (p.Gly32567Val) c.79316G>T (p.Gly26439Val) c.100811G>T (p.Gly33604Val) c.100808G>T (p.Gly33603Val) c.100241G>T (p.Gly33414Val) c.97583G>T (p.Gly32528Val) c.97502G>T (p.Gly32501Val) c.79265G>T (p.Gly26422Val) c.69119G>T (p.Gly23040Val) | gnomAD v4 |
2 | g.178530245C= | CA1310511654 | TTN,TTN-AS1 | c.98666G= (p.Gly32889=) c.79751G= (p.Gly26584=) c.79550G= (p.Gly26517=) c.79175G= (p.Gly26392=) c.106370G= (p.Gly35457=) c.101447G= (p.Gly33816=) n.446+6609C= n.220-5487C= c.105467G= (p.Gly35156=) c.79361G= (p.Gly26454=) c.79220G= (p.Gly26407=) c.105263G= (p.Gly35088=) c.100661G= (p.Gly33554=) c.100658G= (p.Gly33553=) c.97700G= (p.Gly32567=) c.79316G= (p.Gly26439=) c.100811G= (p.Gly33604=) c.100808G= (p.Gly33603=) c.100241G= (p.Gly33414=) c.97583G= (p.Gly32528=) c.97502G= (p.Gly32501=) c.79265G= (p.Gly26422=) c.69119G= (p.Gly23040=) | |
2 | g.178530245C>G | CA349405764 | TTN,TTN-AS1 | c.98666G>C (p.Gly32889Ala) c.79751G>C (p.Gly26584Ala) c.79550G>C (p.Gly26517Ala) c.79175G>C (p.Gly26392Ala) c.106370G>C (p.Gly35457Ala) c.101447G>C (p.Gly33816Ala) n.446+6609C>G n.220-5487C>G c.105467G>C (p.Gly35156Ala) c.79361G>C (p.Gly26454Ala) c.79220G>C (p.Gly26407Ala) c.105263G>C (p.Gly35088Ala) c.100661G>C (p.Gly33554Ala) c.100658G>C (p.Gly33553Ala) c.97700G>C (p.Gly32567Ala) c.79316G>C (p.Gly26439Ala) c.100811G>C (p.Gly33604Ala) c.100808G>C (p.Gly33603Ala) c.100241G>C (p.Gly33414Ala) c.97583G>C (p.Gly32528Ala) c.97502G>C (p.Gly32501Ala) c.79265G>C (p.Gly26422Ala) c.69119G>C (p.Gly23040Ala) | |
2 | g.178530245C>T | CA349405760 | TTN,TTN-AS1 | c.98666G>A (p.Gly32889Glu) c.79751G>A (p.Gly26584Glu) c.79550G>A (p.Gly26517Glu) c.79175G>A (p.Gly26392Glu) c.106370G>A (p.Gly35457Glu) c.101447G>A (p.Gly33816Glu) n.446+6609C>T n.220-5487C>T c.105467G>A (p.Gly35156Glu) c.79361G>A (p.Gly26454Glu) c.79220G>A (p.Gly26407Glu) c.105263G>A (p.Gly35088Glu) c.100661G>A (p.Gly33554Glu) c.100658G>A (p.Gly33553Glu) c.97700G>A (p.Gly32567Glu) c.79316G>A (p.Gly26439Glu) c.100811G>A (p.Gly33604Glu) c.100808G>A (p.Gly33603Glu) c.100241G>A (p.Gly33414Glu) c.97583G>A (p.Gly32528Glu) c.97502G>A (p.Gly32501Glu) c.79265G>A (p.Gly26422Glu) c.69119G>A (p.Gly23040Glu) | |
2 | g.178530246C>A | CA349405765 | TTN,TTN-AS1 | c.98665G>T (p.Gly32889Ter) c.79750G>T (p.Gly26584Ter) c.79549G>T (p.Gly26517Ter) c.79174G>T (p.Gly26392Ter) c.106369G>T (p.Gly35457Ter) c.101446G>T (p.Gly33816Ter) n.446+6610C>A n.220-5486C>A c.105466G>T (p.Gly35156Ter) c.79360G>T (p.Gly26454Ter) c.79219G>T (p.Gly26407Ter) c.105262G>T (p.Gly35088Ter) c.100660G>T (p.Gly33554Ter) c.100657G>T (p.Gly33553Ter) c.97699G>T (p.Gly32567Ter) c.79315G>T (p.Gly26439Ter) c.100810G>T (p.Gly33604Ter) c.100807G>T (p.Gly33603Ter) c.100240G>T (p.Gly33414Ter) c.97582G>T (p.Gly32528Ter) c.97501G>T (p.Gly32501Ter) c.79264G>T (p.Gly26422Ter) c.69118G>T (p.Gly23040Ter) | |
2 | g.178530246C>G | CA349405767 | TTN,TTN-AS1 | c.98665G>C (p.Gly32889Arg) c.79750G>C (p.Gly26584Arg) c.79549G>C (p.Gly26517Arg) c.79174G>C (p.Gly26392Arg) c.106369G>C (p.Gly35457Arg) c.101446G>C (p.Gly33816Arg) n.446+6610C>G n.220-5486C>G c.105466G>C (p.Gly35156Arg) c.79360G>C (p.Gly26454Arg) c.79219G>C (p.Gly26407Arg) c.105262G>C (p.Gly35088Arg) c.100660G>C (p.Gly33554Arg) c.100657G>C (p.Gly33553Arg) c.97699G>C (p.Gly32567Arg) c.79315G>C (p.Gly26439Arg) c.100810G>C (p.Gly33604Arg) c.100807G>C (p.Gly33603Arg) c.100240G>C (p.Gly33414Arg) c.97582G>C (p.Gly32528Arg) c.97501G>C (p.Gly32501Arg) c.79264G>C (p.Gly26422Arg) c.69118G>C (p.Gly23040Arg) | |
2 | g.178530246C>T | CA349405774 | TTN,TTN-AS1 | c.98665G>A (p.Gly32889Arg) c.79750G>A (p.Gly26584Arg) c.79549G>A (p.Gly26517Arg) c.79174G>A (p.Gly26392Arg) c.106369G>A (p.Gly35457Arg) c.101446G>A (p.Gly33816Arg) n.446+6610C>T n.220-5486C>T c.105466G>A (p.Gly35156Arg) c.79360G>A (p.Gly26454Arg) c.79219G>A (p.Gly26407Arg) c.105262G>A (p.Gly35088Arg) c.100660G>A (p.Gly33554Arg) c.100657G>A (p.Gly33553Arg) c.97699G>A (p.Gly32567Arg) c.79315G>A (p.Gly26439Arg) c.100810G>A (p.Gly33604Arg) c.100807G>A (p.Gly33603Arg) c.100240G>A (p.Gly33414Arg) c.97582G>A (p.Gly32528Arg) c.97501G>A (p.Gly32501Arg) c.79264G>A (p.Gly26422Arg) c.69118G>A (p.Gly23040Arg) | |
2 | g.178530247_178530249dup | CA1985123 | TTN,TTN-AS1 | c.98663_98665dup (p.Asp32888_Gly32889insAsp) c.79748_79750dup (p.Asp26583_Gly26584insAsp) c.79547_79549dup (p.Asp26516_Gly26517insAsp) c.79172_79174dup (p.Asp26391_Gly26392insAsp) c.106367_106369dup (p.Asp35456_Gly35457insAsp) c.101444_101446dup (p.Asp33815_Gly33816insAsp) n.446+6611_446+6613dup n.220-5485_220-5483dup c.105464_105466dup (p.Asp35155_Gly35156insAsp) c.79358_79360dup (p.Asp26453_Gly26454insAsp) c.79217_79219dup (p.Asp26406_Gly26407insAsp) c.105260_105262dup (p.Asp35087_Gly35088insAsp) c.100658_100660dup (p.Asp33553_Gly33554insAsp) c.100655_100657dup (p.Asp33552_Gly33553insAsp) c.97697_97699dup (p.Asp32566_Gly32567insAsp) c.79313_79315dup (p.Asp26438_Gly26439insAsp) c.100808_100810dup (p.Asp33603_Gly33604insAsp) c.100805_100807dup (p.Asp33602_Gly33603insAsp) c.100238_100240dup (p.Asp33413_Gly33414insAsp) c.97580_97582dup (p.Asp32527_Gly32528insAsp) c.97499_97501dup (p.Asp32500_Gly32501insAsp) c.79262_79264dup (p.Asp26421_Gly26422insAsp) c.69116_69118dup (p.Asp23039_Gly23040insAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530247A>C | CA349405781 | TTN,TTN-AS1 | c.98664T>G (p.Asp32888Glu) c.79749T>G (p.Asp26583Glu) c.79548T>G (p.Asp26516Glu) c.79173T>G (p.Asp26391Glu) c.106368T>G (p.Asp35456Glu) c.101445T>G (p.Asp33815Glu) n.446+6611A>C n.220-5485A>C c.105465T>G (p.Asp35155Glu) c.79359T>G (p.Asp26453Glu) c.79218T>G (p.Asp26406Glu) c.105261T>G (p.Asp35087Glu) c.100659T>G (p.Asp33553Glu) c.100656T>G (p.Asp33552Glu) c.97698T>G (p.Asp32566Glu) c.79314T>G (p.Asp26438Glu) c.100809T>G (p.Asp33603Glu) c.100806T>G (p.Asp33602Glu) c.100239T>G (p.Asp33413Glu) c.97581T>G (p.Asp32527Glu) c.97500T>G (p.Asp32500Glu) c.79263T>G (p.Asp26421Glu) c.69117T>G (p.Asp23039Glu) | |
2 | g.178530247A>G | CA430235005 | TTN,TTN-AS1 | c.98664T>C (p.Asp32888=) c.79749T>C (p.Asp26583=) c.79548T>C (p.Asp26516=) c.79173T>C (p.Asp26391=) c.106368T>C (p.Asp35456=) c.101445T>C (p.Asp33815=) n.446+6611A>G n.220-5485A>G c.105465T>C (p.Asp35155=) c.79359T>C (p.Asp26453=) c.79218T>C (p.Asp26406=) c.105261T>C (p.Asp35087=) c.100659T>C (p.Asp33553=) c.100656T>C (p.Asp33552=) c.97698T>C (p.Asp32566=) c.79314T>C (p.Asp26438=) c.100809T>C (p.Asp33603=) c.100806T>C (p.Asp33602=) c.100239T>C (p.Asp33413=) c.97581T>C (p.Asp32527=) c.97500T>C (p.Asp32500=) c.79263T>C (p.Asp26421=) c.69117T>C (p.Asp23039=) | |
2 | g.178530247A>T | CA349405784 | TTN,TTN-AS1 | c.98664T>A (p.Asp32888Glu) c.79749T>A (p.Asp26583Glu) c.79548T>A (p.Asp26516Glu) c.79173T>A (p.Asp26391Glu) c.106368T>A (p.Asp35456Glu) c.101445T>A (p.Asp33815Glu) n.446+6611A>T n.220-5485A>T c.105465T>A (p.Asp35155Glu) c.79359T>A (p.Asp26453Glu) c.79218T>A (p.Asp26406Glu) c.105261T>A (p.Asp35087Glu) c.100659T>A (p.Asp33553Glu) c.100656T>A (p.Asp33552Glu) c.97698T>A (p.Asp32566Glu) c.79314T>A (p.Asp26438Glu) c.100809T>A (p.Asp33603Glu) c.100806T>A (p.Asp33602Glu) c.100239T>A (p.Asp33413Glu) c.97581T>A (p.Asp32527Glu) c.97500T>A (p.Asp32500Glu) c.79263T>A (p.Asp26421Glu) c.69117T>A (p.Asp23039Glu) | |
2 | g.178530248T>A | CA349405798 | TTN,TTN-AS1 | c.98663A>T (p.Asp32888Val) c.79748A>T (p.Asp26583Val) c.79547A>T (p.Asp26516Val) c.79172A>T (p.Asp26391Val) c.106367A>T (p.Asp35456Val) c.101444A>T (p.Asp33815Val) n.446+6612T>A n.220-5484T>A c.105464A>T (p.Asp35155Val) c.79358A>T (p.Asp26453Val) c.79217A>T (p.Asp26406Val) c.105260A>T (p.Asp35087Val) c.100658A>T (p.Asp33553Val) c.100655A>T (p.Asp33552Val) c.97697A>T (p.Asp32566Val) c.79313A>T (p.Asp26438Val) c.100808A>T (p.Asp33603Val) c.100805A>T (p.Asp33602Val) c.100238A>T (p.Asp33413Val) c.97580A>T (p.Asp32527Val) c.97499A>T (p.Asp32500Val) c.79262A>T (p.Asp26421Val) c.69116A>T (p.Asp23039Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530248T>C | CA349405801 | TTN,TTN-AS1 | c.98663A>G (p.Asp32888Gly) c.79748A>G (p.Asp26583Gly) c.79547A>G (p.Asp26516Gly) c.79172A>G (p.Asp26391Gly) c.106367A>G (p.Asp35456Gly) c.101444A>G (p.Asp33815Gly) n.446+6612T>C n.220-5484T>C c.105464A>G (p.Asp35155Gly) c.79358A>G (p.Asp26453Gly) c.79217A>G (p.Asp26406Gly) c.105260A>G (p.Asp35087Gly) c.100658A>G (p.Asp33553Gly) c.100655A>G (p.Asp33552Gly) c.97697A>G (p.Asp32566Gly) c.79313A>G (p.Asp26438Gly) c.100808A>G (p.Asp33603Gly) c.100805A>G (p.Asp33602Gly) c.100238A>G (p.Asp33413Gly) c.97580A>G (p.Asp32527Gly) c.97499A>G (p.Asp32500Gly) c.79262A>G (p.Asp26421Gly) c.69116A>G (p.Asp23039Gly) | |
2 | g.178530248T>G | CA349405806 | TTN,TTN-AS1 | c.98663A>C (p.Asp32888Ala) c.79748A>C (p.Asp26583Ala) c.79547A>C (p.Asp26516Ala) c.79172A>C (p.Asp26391Ala) c.106367A>C (p.Asp35456Ala) c.101444A>C (p.Asp33815Ala) n.446+6612T>G n.220-5484T>G c.105464A>C (p.Asp35155Ala) c.79358A>C (p.Asp26453Ala) c.79217A>C (p.Asp26406Ala) c.105260A>C (p.Asp35087Ala) c.100658A>C (p.Asp33553Ala) c.100655A>C (p.Asp33552Ala) c.97697A>C (p.Asp32566Ala) c.79313A>C (p.Asp26438Ala) c.100808A>C (p.Asp33603Ala) c.100805A>C (p.Asp33602Ala) c.100238A>C (p.Asp33413Ala) c.97580A>C (p.Asp32527Ala) c.97499A>C (p.Asp32500Ala) c.79262A>C (p.Asp26421Ala) c.69116A>C (p.Asp23039Ala) | |
2 | g.178530248T= | CA1310511662 | TTN,TTN-AS1 | c.98663A= (p.Asp32888=) c.79748A= (p.Asp26583=) c.79547A= (p.Asp26516=) c.79172A= (p.Asp26391=) c.106367A= (p.Asp35456=) c.101444A= (p.Asp33815=) n.446+6612T= n.220-5484T= c.105464A= (p.Asp35155=) c.79358A= (p.Asp26453=) c.79217A= (p.Asp26406=) c.105260A= (p.Asp35087=) c.100658A= (p.Asp33553=) c.100655A= (p.Asp33552=) c.97697A= (p.Asp32566=) c.79313A= (p.Asp26438=) c.100808A= (p.Asp33603=) c.100805A= (p.Asp33602=) c.100238A= (p.Asp33413=) c.97580A= (p.Asp32527=) c.97499A= (p.Asp32500=) c.79262A= (p.Asp26421=) c.69116A= (p.Asp23039=) | |
2 | g.178530249C>A | CA349405809 | TTN,TTN-AS1 | c.98662G>T (p.Asp32888Tyr) c.79747G>T (p.Asp26583Tyr) c.79546G>T (p.Asp26516Tyr) c.79171G>T (p.Asp26391Tyr) c.106366G>T (p.Asp35456Tyr) c.101443G>T (p.Asp33815Tyr) n.446+6613C>A n.220-5483C>A c.105463G>T (p.Asp35155Tyr) c.79357G>T (p.Asp26453Tyr) c.79216G>T (p.Asp26406Tyr) c.105259G>T (p.Asp35087Tyr) c.100657G>T (p.Asp33553Tyr) c.100654G>T (p.Asp33552Tyr) c.97696G>T (p.Asp32566Tyr) c.79312G>T (p.Asp26438Tyr) c.100807G>T (p.Asp33603Tyr) c.100804G>T (p.Asp33602Tyr) c.100237G>T (p.Asp33413Tyr) c.97579G>T (p.Asp32527Tyr) c.97498G>T (p.Asp32500Tyr) c.79261G>T (p.Asp26421Tyr) c.69115G>T (p.Asp23039Tyr) | |
2 | g.178530249C>G | CA349405813 | TTN,TTN-AS1 | c.98662G>C (p.Asp32888His) c.79747G>C (p.Asp26583His) c.79546G>C (p.Asp26516His) c.79171G>C (p.Asp26391His) c.106366G>C (p.Asp35456His) c.101443G>C (p.Asp33815His) n.446+6613C>G n.220-5483C>G c.105463G>C (p.Asp35155His) c.79357G>C (p.Asp26453His) c.79216G>C (p.Asp26406His) c.105259G>C (p.Asp35087His) c.100657G>C (p.Asp33553His) c.100654G>C (p.Asp33552His) c.97696G>C (p.Asp32566His) c.79312G>C (p.Asp26438His) c.100807G>C (p.Asp33603His) c.100804G>C (p.Asp33602His) c.100237G>C (p.Asp33413His) c.97579G>C (p.Asp32527His) c.97498G>C (p.Asp32500His) c.79261G>C (p.Asp26421His) c.69115G>C (p.Asp23039His) | |
2 | g.178530249C>T | CA349405818 | TTN,TTN-AS1 | c.98662G>A (p.Asp32888Asn) c.79747G>A (p.Asp26583Asn) c.79546G>A (p.Asp26516Asn) c.79171G>A (p.Asp26391Asn) c.106366G>A (p.Asp35456Asn) c.101443G>A (p.Asp33815Asn) n.446+6613C>T n.220-5483C>T c.105463G>A (p.Asp35155Asn) c.79357G>A (p.Asp26453Asn) c.79216G>A (p.Asp26406Asn) c.105259G>A (p.Asp35087Asn) c.100657G>A (p.Asp33553Asn) c.100654G>A (p.Asp33552Asn) c.97696G>A (p.Asp32566Asn) c.79312G>A (p.Asp26438Asn) c.100807G>A (p.Asp33603Asn) c.100804G>A (p.Asp33602Asn) c.100237G>A (p.Asp33413Asn) c.97579G>A (p.Asp32527Asn) c.97498G>A (p.Asp32500Asn) c.79261G>A (p.Asp26421Asn) c.69115G>A (p.Asp23039Asn) | |
2 | g.178530250T>A | CA349405820 | TTN,TTN-AS1 | c.98661A>T (p.Lys32887Asn) c.79746A>T (p.Lys26582Asn) c.79545A>T (p.Lys26515Asn) c.79170A>T (p.Lys26390Asn) c.106365A>T (p.Lys35455Asn) c.101442A>T (p.Lys33814Asn) n.446+6614T>A n.220-5482T>A c.105462A>T (p.Lys35154Asn) c.79356A>T (p.Lys26452Asn) c.79215A>T (p.Lys26405Asn) c.105258A>T (p.Lys35086Asn) c.100656A>T (p.Lys33552Asn) c.100653A>T (p.Lys33551Asn) c.97695A>T (p.Lys32565Asn) c.79311A>T (p.Lys26437Asn) c.100806A>T (p.Lys33602Asn) c.100803A>T (p.Lys33601Asn) c.100236A>T (p.Lys33412Asn) c.97578A>T (p.Lys32526Asn) c.97497A>T (p.Lys32499Asn) c.79260A>T (p.Lys26420Asn) c.69114A>T (p.Lys23038Asn) | |
2 | g.178530250T>C | CA430235008 | TTN,TTN-AS1 | c.98661A>G (p.Lys32887=) c.79746A>G (p.Lys26582=) c.79545A>G (p.Lys26515=) c.79170A>G (p.Lys26390=) c.106365A>G (p.Lys35455=) c.101442A>G (p.Lys33814=) n.446+6614T>C n.220-5482T>C c.105462A>G (p.Lys35154=) c.79356A>G (p.Lys26452=) c.79215A>G (p.Lys26405=) c.105258A>G (p.Lys35086=) c.100656A>G (p.Lys33552=) c.100653A>G (p.Lys33551=) c.97695A>G (p.Lys32565=) c.79311A>G (p.Lys26437=) c.100806A>G (p.Lys33602=) c.100803A>G (p.Lys33601=) c.100236A>G (p.Lys33412=) c.97578A>G (p.Lys32526=) c.97497A>G (p.Lys32499=) c.79260A>G (p.Lys26420=) c.69114A>G (p.Lys23038=) | |
2 | g.178530250T>G | CA1985124 | TTN,TTN-AS1 | c.98661A>C (p.Lys32887Asn) c.79746A>C (p.Lys26582Asn) c.79545A>C (p.Lys26515Asn) c.79170A>C (p.Lys26390Asn) c.106365A>C (p.Lys35455Asn) c.101442A>C (p.Lys33814Asn) n.446+6614T>G n.220-5482T>G c.105462A>C (p.Lys35154Asn) c.79356A>C (p.Lys26452Asn) c.79215A>C (p.Lys26405Asn) c.105258A>C (p.Lys35086Asn) c.100656A>C (p.Lys33552Asn) c.100653A>C (p.Lys33551Asn) c.97695A>C (p.Lys32565Asn) c.79311A>C (p.Lys26437Asn) c.100806A>C (p.Lys33602Asn) c.100803A>C (p.Lys33601Asn) c.100236A>C (p.Lys33412Asn) c.97578A>C (p.Lys32526Asn) c.97497A>C (p.Lys32499Asn) c.79260A>C (p.Lys26420Asn) c.69114A>C (p.Lys23038Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530250T= | CA1310511666 | TTN,TTN-AS1 | c.98661A= (p.Lys32887=) c.79746A= (p.Lys26582=) c.79545A= (p.Lys26515=) c.79170A= (p.Lys26390=) c.106365A= (p.Lys35455=) c.101442A= (p.Lys33814=) n.446+6614T= n.220-5482T= c.105462A= (p.Lys35154=) c.79356A= (p.Lys26452=) c.79215A= (p.Lys26405=) c.105258A= (p.Lys35086=) c.100656A= (p.Lys33552=) c.100653A= (p.Lys33551=) c.97695A= (p.Lys32565=) c.79311A= (p.Lys26437=) c.100806A= (p.Lys33602=) c.100803A= (p.Lys33601=) c.100236A= (p.Lys33412=) c.97578A= (p.Lys32526=) c.97497A= (p.Lys32499=) c.79260A= (p.Lys26420=) c.69114A= (p.Lys23038=) | |
2 | g.178530253del | CA430235009 | TTN,TTN-AS1 | c.98661del (p.Asp32888MetfsTer22) c.79746del (p.Asp26583MetfsTer22) c.79545del (p.Asp26516MetfsTer22) c.79170del (p.Asp26391MetfsTer22) c.106365del (p.Asp35456MetfsTer22) c.101442del (p.Asp33815MetfsTer22) n.446+6617del n.220-5479del c.105462del (p.Asp35155MetfsTer22) c.79356del (p.Asp26453MetfsTer22) c.79215del (p.Asp26406MetfsTer22) c.105258del (p.Asp35087MetfsTer22) c.100656del (p.Asp33553MetfsTer22) c.100653del (p.Asp33552MetfsTer22) c.97695del (p.Asp32566MetfsTer22) c.79311del (p.Asp26438MetfsTer22) c.100806del (p.Asp33603MetfsTer22) c.100803del (p.Asp33602MetfsTer22) c.100236del (p.Asp33413MetfsTer22) c.97578del (p.Asp32527MetfsTer22) c.97497del (p.Asp32500MetfsTer22) c.79260del (p.Asp26421MetfsTer22) c.69114del (p.Asp23039MetfsTer22) | |
2 | g.178530251T>A | CA349405836 | TTN,TTN-AS1 | c.98660A>T (p.Lys32887Ile) c.79745A>T (p.Lys26582Ile) c.79544A>T (p.Lys26515Ile) c.79169A>T (p.Lys26390Ile) c.106364A>T (p.Lys35455Ile) c.101441A>T (p.Lys33814Ile) n.446+6615T>A n.220-5481T>A c.105461A>T (p.Lys35154Ile) c.79355A>T (p.Lys26452Ile) c.79214A>T (p.Lys26405Ile) c.105257A>T (p.Lys35086Ile) c.100655A>T (p.Lys33552Ile) c.100652A>T (p.Lys33551Ile) c.97694A>T (p.Lys32565Ile) c.79310A>T (p.Lys26437Ile) c.100805A>T (p.Lys33602Ile) c.100802A>T (p.Lys33601Ile) c.100235A>T (p.Lys33412Ile) c.97577A>T (p.Lys32526Ile) c.97496A>T (p.Lys32499Ile) c.79259A>T (p.Lys26420Ile) c.69113A>T (p.Lys23038Ile) | dbSNP |
2 | g.178530251T>C | CA349405827 | TTN,TTN-AS1 | c.98660A>G (p.Lys32887Arg) c.79745A>G (p.Lys26582Arg) c.79544A>G (p.Lys26515Arg) c.79169A>G (p.Lys26390Arg) c.106364A>G (p.Lys35455Arg) c.101441A>G (p.Lys33814Arg) n.446+6615T>C n.220-5481T>C c.105461A>G (p.Lys35154Arg) c.79355A>G (p.Lys26452Arg) c.79214A>G (p.Lys26405Arg) c.105257A>G (p.Lys35086Arg) c.100655A>G (p.Lys33552Arg) c.100652A>G (p.Lys33551Arg) c.97694A>G (p.Lys32565Arg) c.79310A>G (p.Lys26437Arg) c.100805A>G (p.Lys33602Arg) c.100802A>G (p.Lys33601Arg) c.100235A>G (p.Lys33412Arg) c.97577A>G (p.Lys32526Arg) c.97496A>G (p.Lys32499Arg) c.79259A>G (p.Lys26420Arg) c.69113A>G (p.Lys23038Arg) | |
2 | g.178530251T>G | CA349405833 | TTN,TTN-AS1 | c.98660A>C (p.Lys32887Thr) c.79745A>C (p.Lys26582Thr) c.79544A>C (p.Lys26515Thr) c.79169A>C (p.Lys26390Thr) c.106364A>C (p.Lys35455Thr) c.101441A>C (p.Lys33814Thr) n.446+6615T>G n.220-5481T>G c.105461A>C (p.Lys35154Thr) c.79355A>C (p.Lys26452Thr) c.79214A>C (p.Lys26405Thr) c.105257A>C (p.Lys35086Thr) c.100655A>C (p.Lys33552Thr) c.100652A>C (p.Lys33551Thr) c.97694A>C (p.Lys32565Thr) c.79310A>C (p.Lys26437Thr) c.100805A>C (p.Lys33602Thr) c.100802A>C (p.Lys33601Thr) c.100235A>C (p.Lys33412Thr) c.97577A>C (p.Lys32526Thr) c.97496A>C (p.Lys32499Thr) c.79259A>C (p.Lys26420Thr) c.69113A>C (p.Lys23038Thr) | |
2 | g.178530251T= | CA1310511671 | TTN,TTN-AS1 | c.98660A= (p.Lys32887=) c.79745A= (p.Lys26582=) c.79544A= (p.Lys26515=) c.79169A= (p.Lys26390=) c.106364A= (p.Lys35455=) c.101441A= (p.Lys33814=) n.446+6615T= n.220-5481T= c.105461A= (p.Lys35154=) c.79355A= (p.Lys26452=) c.79214A= (p.Lys26405=) c.105257A= (p.Lys35086=) c.100655A= (p.Lys33552=) c.100652A= (p.Lys33551=) c.97694A= (p.Lys32565=) c.79310A= (p.Lys26437=) c.100805A= (p.Lys33602=) c.100802A= (p.Lys33601=) c.100235A= (p.Lys33412=) c.97577A= (p.Lys32526=) c.97496A= (p.Lys32499=) c.79259A= (p.Lys26420=) c.69113A= (p.Lys23038=) | |
2 | g.178530252T>A | CA349405839 | TTN,TTN-AS1 | c.98659A>T (p.Lys32887Ter) c.79744A>T (p.Lys26582Ter) c.79543A>T (p.Lys26515Ter) c.79168A>T (p.Lys26390Ter) c.106363A>T (p.Lys35455Ter) c.101440A>T (p.Lys33814Ter) n.446+6616T>A n.220-5480T>A c.105460A>T (p.Lys35154Ter) c.79354A>T (p.Lys26452Ter) c.79213A>T (p.Lys26405Ter) c.105256A>T (p.Lys35086Ter) c.100654A>T (p.Lys33552Ter) c.100651A>T (p.Lys33551Ter) c.97693A>T (p.Lys32565Ter) c.79309A>T (p.Lys26437Ter) c.100804A>T (p.Lys33602Ter) c.100801A>T (p.Lys33601Ter) c.100234A>T (p.Lys33412Ter) c.97576A>T (p.Lys32526Ter) c.97495A>T (p.Lys32499Ter) c.79258A>T (p.Lys26420Ter) c.69112A>T (p.Lys23038Ter) | |
2 | g.178530252T>C | CA349405842 | TTN,TTN-AS1 | c.98659A>G (p.Lys32887Glu) c.79744A>G (p.Lys26582Glu) c.79543A>G (p.Lys26515Glu) c.79168A>G (p.Lys26390Glu) c.106363A>G (p.Lys35455Glu) c.101440A>G (p.Lys33814Glu) n.446+6616T>C n.220-5480T>C c.105460A>G (p.Lys35154Glu) c.79354A>G (p.Lys26452Glu) c.79213A>G (p.Lys26405Glu) c.105256A>G (p.Lys35086Glu) c.100654A>G (p.Lys33552Glu) c.100651A>G (p.Lys33551Glu) c.97693A>G (p.Lys32565Glu) c.79309A>G (p.Lys26437Glu) c.100804A>G (p.Lys33602Glu) c.100801A>G (p.Lys33601Glu) c.100234A>G (p.Lys33412Glu) c.97576A>G (p.Lys32526Glu) c.97495A>G (p.Lys32499Glu) c.79258A>G (p.Lys26420Glu) c.69112A>G (p.Lys23038Glu) | |
2 | g.178530252T>G | CA349405845 | TTN,TTN-AS1 | c.98659A>C (p.Lys32887Gln) c.79744A>C (p.Lys26582Gln) c.79543A>C (p.Lys26515Gln) c.79168A>C (p.Lys26390Gln) c.106363A>C (p.Lys35455Gln) c.101440A>C (p.Lys33814Gln) n.446+6616T>G n.220-5480T>G c.105460A>C (p.Lys35154Gln) c.79354A>C (p.Lys26452Gln) c.79213A>C (p.Lys26405Gln) c.105256A>C (p.Lys35086Gln) c.100654A>C (p.Lys33552Gln) c.100651A>C (p.Lys33551Gln) c.97693A>C (p.Lys32565Gln) c.79309A>C (p.Lys26437Gln) c.100804A>C (p.Lys33602Gln) c.100801A>C (p.Lys33601Gln) c.100234A>C (p.Lys33412Gln) c.97576A>C (p.Lys32526Gln) c.97495A>C (p.Lys32499Gln) c.79258A>C (p.Lys26420Gln) c.69112A>C (p.Lys23038Gln) | |
2 | g.178530253T>A | CA430235014 | TTN,TTN-AS1 | c.98658A>T (p.Thr32886=) c.79743A>T (p.Thr26581=) c.79542A>T (p.Thr26514=) c.79167A>T (p.Thr26389=) c.106362A>T (p.Thr35454=) c.101439A>T (p.Thr33813=) n.446+6617T>A n.220-5479T>A c.105459A>T (p.Thr35153=) c.79353A>T (p.Thr26451=) c.79212A>T (p.Thr26404=) c.105255A>T (p.Thr35085=) c.100653A>T (p.Thr33551=) c.100650A>T (p.Thr33550=) c.97692A>T (p.Thr32564=) c.79308A>T (p.Thr26436=) c.100803A>T (p.Thr33601=) c.100800A>T (p.Thr33600=) c.100233A>T (p.Thr33411=) c.97575A>T (p.Thr32525=) c.97494A>T (p.Thr32498=) c.79257A>T (p.Thr26419=) c.69111A>T (p.Thr23037=) | |
2 | g.178530253T>C | CA430235015 | TTN,TTN-AS1 | c.98658A>G (p.Thr32886=) c.79743A>G (p.Thr26581=) c.79542A>G (p.Thr26514=) c.79167A>G (p.Thr26389=) c.106362A>G (p.Thr35454=) c.101439A>G (p.Thr33813=) n.446+6617T>C n.220-5479T>C c.105459A>G (p.Thr35153=) c.79353A>G (p.Thr26451=) c.79212A>G (p.Thr26404=) c.105255A>G (p.Thr35085=) c.100653A>G (p.Thr33551=) c.100650A>G (p.Thr33550=) c.97692A>G (p.Thr32564=) c.79308A>G (p.Thr26436=) c.100803A>G (p.Thr33601=) c.100800A>G (p.Thr33600=) c.100233A>G (p.Thr33411=) c.97575A>G (p.Thr32525=) c.97494A>G (p.Thr32498=) c.79257A>G (p.Thr26419=) c.69111A>G (p.Thr23037=) | |
2 | g.178530253T>G | CA430235016 | TTN,TTN-AS1 | c.98658A>C (p.Thr32886=) c.79743A>C (p.Thr26581=) c.79542A>C (p.Thr26514=) c.79167A>C (p.Thr26389=) c.106362A>C (p.Thr35454=) c.101439A>C (p.Thr33813=) n.446+6617T>G n.220-5479T>G c.105459A>C (p.Thr35153=) c.79353A>C (p.Thr26451=) c.79212A>C (p.Thr26404=) c.105255A>C (p.Thr35085=) c.100653A>C (p.Thr33551=) c.100650A>C (p.Thr33550=) c.97692A>C (p.Thr32564=) c.79308A>C (p.Thr26436=) c.100803A>C (p.Thr33601=) c.100800A>C (p.Thr33600=) c.100233A>C (p.Thr33411=) c.97575A>C (p.Thr32525=) c.97494A>C (p.Thr32498=) c.79257A>C (p.Thr26419=) c.69111A>C (p.Thr23037=) | dbSNP |
2 | g.178530253T= | CA1310511674 | TTN,TTN-AS1 | c.98658A= (p.Thr32886=) c.79743A= (p.Thr26581=) c.79542A= (p.Thr26514=) c.79167A= (p.Thr26389=) c.106362A= (p.Thr35454=) c.101439A= (p.Thr33813=) n.446+6617T= n.220-5479T= c.105459A= (p.Thr35153=) c.79353A= (p.Thr26451=) c.79212A= (p.Thr26404=) c.105255A= (p.Thr35085=) c.100653A= (p.Thr33551=) c.100650A= (p.Thr33550=) c.97692A= (p.Thr32564=) c.79308A= (p.Thr26436=) c.100803A= (p.Thr33601=) c.100800A= (p.Thr33600=) c.100233A= (p.Thr33411=) c.97575A= (p.Thr32525=) c.97494A= (p.Thr32498=) c.79257A= (p.Thr26419=) c.69111A= (p.Thr23037=) | |
2 | g.178530254G>A | CA349405848 | TTN,TTN-AS1 | c.98657C>T (p.Thr32886Ile) c.79742C>T (p.Thr26581Ile) c.79541C>T (p.Thr26514Ile) c.79166C>T (p.Thr26389Ile) c.106361C>T (p.Thr35454Ile) c.101438C>T (p.Thr33813Ile) n.446+6618G>A n.220-5478G>A c.105458C>T (p.Thr35153Ile) c.79352C>T (p.Thr26451Ile) c.79211C>T (p.Thr26404Ile) c.105254C>T (p.Thr35085Ile) c.100652C>T (p.Thr33551Ile) c.100649C>T (p.Thr33550Ile) c.97691C>T (p.Thr32564Ile) c.79307C>T (p.Thr26436Ile) c.100802C>T (p.Thr33601Ile) c.100799C>T (p.Thr33600Ile) c.100232C>T (p.Thr33411Ile) c.97574C>T (p.Thr32525Ile) c.97493C>T (p.Thr32498Ile) c.79256C>T (p.Thr26419Ile) c.69110C>T (p.Thr23037Ile) | |
2 | g.178530254G>C | CA349405854 | TTN,TTN-AS1 | c.98657C>G (p.Thr32886Arg) c.79742C>G (p.Thr26581Arg) c.79541C>G (p.Thr26514Arg) c.79166C>G (p.Thr26389Arg) c.106361C>G (p.Thr35454Arg) c.101438C>G (p.Thr33813Arg) n.446+6618G>C n.220-5478G>C c.105458C>G (p.Thr35153Arg) c.79352C>G (p.Thr26451Arg) c.79211C>G (p.Thr26404Arg) c.105254C>G (p.Thr35085Arg) c.100652C>G (p.Thr33551Arg) c.100649C>G (p.Thr33550Arg) c.97691C>G (p.Thr32564Arg) c.79307C>G (p.Thr26436Arg) c.100802C>G (p.Thr33601Arg) c.100799C>G (p.Thr33600Arg) c.100232C>G (p.Thr33411Arg) c.97574C>G (p.Thr32525Arg) c.97493C>G (p.Thr32498Arg) c.79256C>G (p.Thr26419Arg) c.69110C>G (p.Thr23037Arg) | |
2 | g.178530254G>T | CA349405858 | TTN,TTN-AS1 | c.98657C>A (p.Thr32886Lys) c.79742C>A (p.Thr26581Lys) c.79541C>A (p.Thr26514Lys) c.79166C>A (p.Thr26389Lys) c.106361C>A (p.Thr35454Lys) c.101438C>A (p.Thr33813Lys) n.446+6618G>T n.220-5478G>T c.105458C>A (p.Thr35153Lys) c.79352C>A (p.Thr26451Lys) c.79211C>A (p.Thr26404Lys) c.105254C>A (p.Thr35085Lys) c.100652C>A (p.Thr33551Lys) c.100649C>A (p.Thr33550Lys) c.97691C>A (p.Thr32564Lys) c.79307C>A (p.Thr26436Lys) c.100802C>A (p.Thr33601Lys) c.100799C>A (p.Thr33600Lys) c.100232C>A (p.Thr33411Lys) c.97574C>A (p.Thr32525Lys) c.97493C>A (p.Thr32498Lys) c.79256C>A (p.Thr26419Lys) c.69110C>A (p.Thr23037Lys) | |
2 | g.178530255T>A | CA349405862 | TTN,TTN-AS1 | c.98656A>T (p.Thr32886Ser) c.79741A>T (p.Thr26581Ser) c.79540A>T (p.Thr26514Ser) c.79165A>T (p.Thr26389Ser) c.106360A>T (p.Thr35454Ser) c.101437A>T (p.Thr33813Ser) n.446+6619T>A n.220-5477T>A c.105457A>T (p.Thr35153Ser) c.79351A>T (p.Thr26451Ser) c.79210A>T (p.Thr26404Ser) c.105253A>T (p.Thr35085Ser) c.100651A>T (p.Thr33551Ser) c.100648A>T (p.Thr33550Ser) c.97690A>T (p.Thr32564Ser) c.79306A>T (p.Thr26436Ser) c.100801A>T (p.Thr33601Ser) c.100798A>T (p.Thr33600Ser) c.100231A>T (p.Thr33411Ser) c.97573A>T (p.Thr32525Ser) c.97492A>T (p.Thr32498Ser) c.79255A>T (p.Thr26419Ser) c.69109A>T (p.Thr23037Ser) | |
2 | g.178530255T>C | CA349405863 | TTN,TTN-AS1 | c.98656A>G (p.Thr32886Ala) c.79741A>G (p.Thr26581Ala) c.79540A>G (p.Thr26514Ala) c.79165A>G (p.Thr26389Ala) c.106360A>G (p.Thr35454Ala) c.101437A>G (p.Thr33813Ala) n.446+6619T>C n.220-5477T>C c.105457A>G (p.Thr35153Ala) c.79351A>G (p.Thr26451Ala) c.79210A>G (p.Thr26404Ala) c.105253A>G (p.Thr35085Ala) c.100651A>G (p.Thr33551Ala) c.100648A>G (p.Thr33550Ala) c.97690A>G (p.Thr32564Ala) c.79306A>G (p.Thr26436Ala) c.100801A>G (p.Thr33601Ala) c.100798A>G (p.Thr33600Ala) c.100231A>G (p.Thr33411Ala) c.97573A>G (p.Thr32525Ala) c.97492A>G (p.Thr32498Ala) c.79255A>G (p.Thr26419Ala) c.69109A>G (p.Thr23037Ala) | |
2 | g.178530255T>G | CA349405866 | TTN,TTN-AS1 | c.98656A>C (p.Thr32886Pro) c.79741A>C (p.Thr26581Pro) c.79540A>C (p.Thr26514Pro) c.79165A>C (p.Thr26389Pro) c.106360A>C (p.Thr35454Pro) c.101437A>C (p.Thr33813Pro) n.446+6619T>G n.220-5477T>G c.105457A>C (p.Thr35153Pro) c.79351A>C (p.Thr26451Pro) c.79210A>C (p.Thr26404Pro) c.105253A>C (p.Thr35085Pro) c.100651A>C (p.Thr33551Pro) c.100648A>C (p.Thr33550Pro) c.97690A>C (p.Thr32564Pro) c.79306A>C (p.Thr26436Pro) c.100801A>C (p.Thr33601Pro) c.100798A>C (p.Thr33600Pro) c.100231A>C (p.Thr33411Pro) c.97573A>C (p.Thr32525Pro) c.97492A>C (p.Thr32498Pro) c.79255A>C (p.Thr26419Pro) c.69109A>C (p.Thr23037Pro) | dbSNP gnomAD v4 |
2 | g.178530255T= | CA1310511677 | TTN,TTN-AS1 | c.98656A= (p.Thr32886=) c.79741A= (p.Thr26581=) c.79540A= (p.Thr26514=) c.79165A= (p.Thr26389=) c.106360A= (p.Thr35454=) c.101437A= (p.Thr33813=) n.446+6619T= n.220-5477T= c.105457A= (p.Thr35153=) c.79351A= (p.Thr26451=) c.79210A= (p.Thr26404=) c.105253A= (p.Thr35085=) c.100651A= (p.Thr33551=) c.100648A= (p.Thr33550=) c.97690A= (p.Thr32564=) c.79306A= (p.Thr26436=) c.100801A= (p.Thr33601=) c.100798A= (p.Thr33600=) c.100231A= (p.Thr33411=) c.97573A= (p.Thr32525=) c.97492A= (p.Thr32498=) c.79255A= (p.Thr26419=) c.69109A= (p.Thr23037=) | |
2 | g.178530256C>A | CA349405868 | TTN,TTN-AS1 | c.98655G>T (p.Trp32885Cys) c.79740G>T (p.Trp26580Cys) c.79539G>T (p.Trp26513Cys) c.79164G>T (p.Trp26388Cys) c.106359G>T (p.Trp35453Cys) c.101436G>T (p.Trp33812Cys) n.446+6620C>A n.220-5476C>A c.105456G>T (p.Trp35152Cys) c.79350G>T (p.Trp26450Cys) c.79209G>T (p.Trp26403Cys) c.105252G>T (p.Trp35084Cys) c.100650G>T (p.Trp33550Cys) c.100647G>T (p.Trp33549Cys) c.97689G>T (p.Trp32563Cys) c.79305G>T (p.Trp26435Cys) c.100800G>T (p.Trp33600Cys) c.100797G>T (p.Trp33599Cys) c.100230G>T (p.Trp33410Cys) c.97572G>T (p.Trp32524Cys) c.97491G>T (p.Trp32497Cys) c.79254G>T (p.Trp26418Cys) c.69108G>T (p.Trp23036Cys) | gnomAD v4 |
2 | g.178530256C>G | CA349405870 | TTN,TTN-AS1 | c.98655G>C (p.Trp32885Cys) c.79740G>C (p.Trp26580Cys) c.79539G>C (p.Trp26513Cys) c.79164G>C (p.Trp26388Cys) c.106359G>C (p.Trp35453Cys) c.101436G>C (p.Trp33812Cys) n.446+6620C>G n.220-5476C>G c.105456G>C (p.Trp35152Cys) c.79350G>C (p.Trp26450Cys) c.79209G>C (p.Trp26403Cys) c.105252G>C (p.Trp35084Cys) c.100650G>C (p.Trp33550Cys) c.100647G>C (p.Trp33549Cys) c.97689G>C (p.Trp32563Cys) c.79305G>C (p.Trp26435Cys) c.100800G>C (p.Trp33600Cys) c.100797G>C (p.Trp33599Cys) c.100230G>C (p.Trp33410Cys) c.97572G>C (p.Trp32524Cys) c.97491G>C (p.Trp32497Cys) c.79254G>C (p.Trp26418Cys) c.69108G>C (p.Trp23036Cys) | |
2 | g.178530256C>T | CA349405873 | TTN,TTN-AS1 | c.98655G>A (p.Trp32885Ter) c.79740G>A (p.Trp26580Ter) c.79539G>A (p.Trp26513Ter) c.79164G>A (p.Trp26388Ter) c.106359G>A (p.Trp35453Ter) c.101436G>A (p.Trp33812Ter) n.446+6620C>T n.220-5476C>T c.105456G>A (p.Trp35152Ter) c.79350G>A (p.Trp26450Ter) c.79209G>A (p.Trp26403Ter) c.105252G>A (p.Trp35084Ter) c.100650G>A (p.Trp33550Ter) c.100647G>A (p.Trp33549Ter) c.97689G>A (p.Trp32563Ter) c.79305G>A (p.Trp26435Ter) c.100800G>A (p.Trp33600Ter) c.100797G>A (p.Trp33599Ter) c.100230G>A (p.Trp33410Ter) c.97572G>A (p.Trp32524Ter) c.97491G>A (p.Trp32497Ter) c.79254G>A (p.Trp26418Ter) c.69108G>A (p.Trp23036Ter) | gnomAD v4 |
2 | g.178530257C>A | CA349405883 | TTN,TTN-AS1 | c.98654G>T (p.Trp32885Leu) c.79739G>T (p.Trp26580Leu) c.79538G>T (p.Trp26513Leu) c.79163G>T (p.Trp26388Leu) c.106358G>T (p.Trp35453Leu) c.101435G>T (p.Trp33812Leu) n.446+6621C>A n.220-5475C>A c.105455G>T (p.Trp35152Leu) c.79349G>T (p.Trp26450Leu) c.79208G>T (p.Trp26403Leu) c.105251G>T (p.Trp35084Leu) c.100649G>T (p.Trp33550Leu) c.100646G>T (p.Trp33549Leu) c.97688G>T (p.Trp32563Leu) c.79304G>T (p.Trp26435Leu) c.100799G>T (p.Trp33600Leu) c.100796G>T (p.Trp33599Leu) c.100229G>T (p.Trp33410Leu) c.97571G>T (p.Trp32524Leu) c.97490G>T (p.Trp32497Leu) c.79253G>T (p.Trp26418Leu) c.69107G>T (p.Trp23036Leu) | |
2 | g.178530257C= | CA1310511680 | TTN,TTN-AS1 | c.98654G= (p.Trp32885=) c.79739G= (p.Trp26580=) c.79538G= (p.Trp26513=) c.79163G= (p.Trp26388=) c.106358G= (p.Trp35453=) c.101435G= (p.Trp33812=) n.446+6621C= n.220-5475C= c.105455G= (p.Trp35152=) c.79349G= (p.Trp26450=) c.79208G= (p.Trp26403=) c.105251G= (p.Trp35084=) c.100649G= (p.Trp33550=) c.100646G= (p.Trp33549=) c.97688G= (p.Trp32563=) c.79304G= (p.Trp26435=) c.100799G= (p.Trp33600=) c.100796G= (p.Trp33599=) c.100229G= (p.Trp33410=) c.97571G= (p.Trp32524=) c.97490G= (p.Trp32497=) c.79253G= (p.Trp26418=) c.69107G= (p.Trp23036=) | |
2 | g.178530257C>G | CA349405880 | TTN,TTN-AS1 | c.98654G>C (p.Trp32885Ser) c.79739G>C (p.Trp26580Ser) c.79538G>C (p.Trp26513Ser) c.79163G>C (p.Trp26388Ser) c.106358G>C (p.Trp35453Ser) c.101435G>C (p.Trp33812Ser) n.446+6621C>G n.220-5475C>G c.105455G>C (p.Trp35152Ser) c.79349G>C (p.Trp26450Ser) c.79208G>C (p.Trp26403Ser) c.105251G>C (p.Trp35084Ser) c.100649G>C (p.Trp33550Ser) c.100646G>C (p.Trp33549Ser) c.97688G>C (p.Trp32563Ser) c.79304G>C (p.Trp26435Ser) c.100799G>C (p.Trp33600Ser) c.100796G>C (p.Trp33599Ser) c.100229G>C (p.Trp33410Ser) c.97571G>C (p.Trp32524Ser) c.97490G>C (p.Trp32497Ser) c.79253G>C (p.Trp26418Ser) c.69107G>C (p.Trp23036Ser) | |
2 | g.178530257C>T | CA60953232 | TTN,TTN-AS1 | c.98654G>A (p.Trp32885Ter) c.79739G>A (p.Trp26580Ter) c.79538G>A (p.Trp26513Ter) c.79163G>A (p.Trp26388Ter) c.106358G>A (p.Trp35453Ter) c.101435G>A (p.Trp33812Ter) n.446+6621C>T n.220-5475C>T c.105455G>A (p.Trp35152Ter) c.79349G>A (p.Trp26450Ter) c.79208G>A (p.Trp26403Ter) c.105251G>A (p.Trp35084Ter) c.100649G>A (p.Trp33550Ter) c.100646G>A (p.Trp33549Ter) c.97688G>A (p.Trp32563Ter) c.79304G>A (p.Trp26435Ter) c.100799G>A (p.Trp33600Ter) c.100796G>A (p.Trp33599Ter) c.100229G>A (p.Trp33410Ter) c.97571G>A (p.Trp32524Ter) c.97490G>A (p.Trp32497Ter) c.79253G>A (p.Trp26418Ter) c.69107G>A (p.Trp23036Ter) | ClinVar dbSNP |
2 | g.178530258A>C | CA349405888 | TTN,TTN-AS1 | c.98653T>G (p.Trp32885Gly) c.79738T>G (p.Trp26580Gly) c.79537T>G (p.Trp26513Gly) c.79162T>G (p.Trp26388Gly) c.106357T>G (p.Trp35453Gly) c.101434T>G (p.Trp33812Gly) n.446+6622A>C n.220-5474A>C c.105454T>G (p.Trp35152Gly) c.79348T>G (p.Trp26450Gly) c.79207T>G (p.Trp26403Gly) c.105250T>G (p.Trp35084Gly) c.100648T>G (p.Trp33550Gly) c.100645T>G (p.Trp33549Gly) c.97687T>G (p.Trp32563Gly) c.79303T>G (p.Trp26435Gly) c.100798T>G (p.Trp33600Gly) c.100795T>G (p.Trp33599Gly) c.100228T>G (p.Trp33410Gly) c.97570T>G (p.Trp32524Gly) c.97489T>G (p.Trp32497Gly) c.79252T>G (p.Trp26418Gly) c.69106T>G (p.Trp23036Gly) | |
2 | g.178530258A>G | CA349405894 | TTN,TTN-AS1 | c.98653T>C (p.Trp32885Arg) c.79738T>C (p.Trp26580Arg) c.79537T>C (p.Trp26513Arg) c.79162T>C (p.Trp26388Arg) c.106357T>C (p.Trp35453Arg) c.101434T>C (p.Trp33812Arg) n.446+6622A>G n.220-5474A>G c.105454T>C (p.Trp35152Arg) c.79348T>C (p.Trp26450Arg) c.79207T>C (p.Trp26403Arg) c.105250T>C (p.Trp35084Arg) c.100648T>C (p.Trp33550Arg) c.100645T>C (p.Trp33549Arg) c.97687T>C (p.Trp32563Arg) c.79303T>C (p.Trp26435Arg) c.100798T>C (p.Trp33600Arg) c.100795T>C (p.Trp33599Arg) c.100228T>C (p.Trp33410Arg) c.97570T>C (p.Trp32524Arg) c.97489T>C (p.Trp32497Arg) c.79252T>C (p.Trp26418Arg) c.69106T>C (p.Trp23036Arg) | gnomAD v4 |
2 | g.178530258A>T | CA349405897 | TTN,TTN-AS1 | c.98653T>A (p.Trp32885Arg) c.79738T>A (p.Trp26580Arg) c.79537T>A (p.Trp26513Arg) c.79162T>A (p.Trp26388Arg) c.106357T>A (p.Trp35453Arg) c.101434T>A (p.Trp33812Arg) n.446+6622A>T n.220-5474A>T c.105454T>A (p.Trp35152Arg) c.79348T>A (p.Trp26450Arg) c.79207T>A (p.Trp26403Arg) c.105250T>A (p.Trp35084Arg) c.100648T>A (p.Trp33550Arg) c.100645T>A (p.Trp33549Arg) c.97687T>A (p.Trp32563Arg) c.79303T>A (p.Trp26435Arg) c.100798T>A (p.Trp33600Arg) c.100795T>A (p.Trp33599Arg) c.100228T>A (p.Trp33410Arg) c.97570T>A (p.Trp32524Arg) c.97489T>A (p.Trp32497Arg) c.79252T>A (p.Trp26418Arg) c.69106T>A (p.Trp23036Arg) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530259G>A | CA430235023 | TTN,TTN-AS1 | c.98652C>T (p.Ile32884=) c.79737C>T (p.Ile26579=) c.79536C>T (p.Ile26512=) c.79161C>T (p.Ile26387=) c.106356C>T (p.Ile35452=) c.101433C>T (p.Ile33811=) n.446+6623G>A n.220-5473G>A c.105453C>T (p.Ile35151=) c.79347C>T (p.Ile26449=) c.79206C>T (p.Ile26402=) c.105249C>T (p.Ile35083=) c.100647C>T (p.Ile33549=) c.100644C>T (p.Ile33548=) c.97686C>T (p.Ile32562=) c.79302C>T (p.Ile26434=) c.100797C>T (p.Ile33599=) c.100794C>T (p.Ile33598=) c.100227C>T (p.Ile33409=) c.97569C>T (p.Ile32523=) c.97488C>T (p.Ile32496=) c.79251C>T (p.Ile26417=) c.69105C>T (p.Ile23035=) | |
2 | g.178530259G>C | CA349405900 | TTN,TTN-AS1 | c.98652C>G (p.Ile32884Met) c.79737C>G (p.Ile26579Met) c.79536C>G (p.Ile26512Met) c.79161C>G (p.Ile26387Met) c.106356C>G (p.Ile35452Met) c.101433C>G (p.Ile33811Met) n.446+6623G>C n.220-5473G>C c.105453C>G (p.Ile35151Met) c.79347C>G (p.Ile26449Met) c.79206C>G (p.Ile26402Met) c.105249C>G (p.Ile35083Met) c.100647C>G (p.Ile33549Met) c.100644C>G (p.Ile33548Met) c.97686C>G (p.Ile32562Met) c.79302C>G (p.Ile26434Met) c.100797C>G (p.Ile33599Met) c.100794C>G (p.Ile33598Met) c.100227C>G (p.Ile33409Met) c.97569C>G (p.Ile32523Met) c.97488C>G (p.Ile32496Met) c.79251C>G (p.Ile26417Met) c.69105C>G (p.Ile23035Met) | gnomAD v4 |
2 | g.178530259G>T | CA430235024 | TTN,TTN-AS1 | c.98652C>A (p.Ile32884=) c.79737C>A (p.Ile26579=) c.79536C>A (p.Ile26512=) c.79161C>A (p.Ile26387=) c.106356C>A (p.Ile35452=) c.101433C>A (p.Ile33811=) n.446+6623G>T n.220-5473G>T c.105453C>A (p.Ile35151=) c.79347C>A (p.Ile26449=) c.79206C>A (p.Ile26402=) c.105249C>A (p.Ile35083=) c.100647C>A (p.Ile33549=) c.100644C>A (p.Ile33548=) c.97686C>A (p.Ile32562=) c.79302C>A (p.Ile26434=) c.100797C>A (p.Ile33599=) c.100794C>A (p.Ile33598=) c.100227C>A (p.Ile33409=) c.97569C>A (p.Ile32523=) c.97488C>A (p.Ile32496=) c.79251C>A (p.Ile26417=) c.69105C>A (p.Ile23035=) | |
2 | g.178530260A= | CA1310511685 | TTN,TTN-AS1 | c.98651T= (p.Ile32884=) c.79736T= (p.Ile26579=) c.79535T= (p.Ile26512=) c.79160T= (p.Ile26387=) c.106355T= (p.Ile35452=) c.101432T= (p.Ile33811=) n.446+6624A= n.220-5472A= c.105452T= (p.Ile35151=) c.79346T= (p.Ile26449=) c.79205T= (p.Ile26402=) c.105248T= (p.Ile35083=) c.100646T= (p.Ile33549=) c.100643T= (p.Ile33548=) c.97685T= (p.Ile32562=) c.79301T= (p.Ile26434=) c.100796T= (p.Ile33599=) c.100793T= (p.Ile33598=) c.100226T= (p.Ile33409=) c.97568T= (p.Ile32523=) c.97487T= (p.Ile32496=) c.79250T= (p.Ile26417=) c.69104T= (p.Ile23035=) | |
2 | g.178530260A>C | CA349405903 | TTN,TTN-AS1 | c.98651T>G (p.Ile32884Ser) c.79736T>G (p.Ile26579Ser) c.79535T>G (p.Ile26512Ser) c.79160T>G (p.Ile26387Ser) c.106355T>G (p.Ile35452Ser) c.101432T>G (p.Ile33811Ser) n.446+6624A>C n.220-5472A>C c.105452T>G (p.Ile35151Ser) c.79346T>G (p.Ile26449Ser) c.79205T>G (p.Ile26402Ser) c.105248T>G (p.Ile35083Ser) c.100646T>G (p.Ile33549Ser) c.100643T>G (p.Ile33548Ser) c.97685T>G (p.Ile32562Ser) c.79301T>G (p.Ile26434Ser) c.100796T>G (p.Ile33599Ser) c.100793T>G (p.Ile33598Ser) c.100226T>G (p.Ile33409Ser) c.97568T>G (p.Ile32523Ser) c.97487T>G (p.Ile32496Ser) c.79250T>G (p.Ile26417Ser) c.69104T>G (p.Ile23035Ser) | |
2 | g.178530260A>G | CA349405906 | TTN,TTN-AS1 | c.98651T>C (p.Ile32884Thr) c.79736T>C (p.Ile26579Thr) c.79535T>C (p.Ile26512Thr) c.79160T>C (p.Ile26387Thr) c.106355T>C (p.Ile35452Thr) c.101432T>C (p.Ile33811Thr) n.446+6624A>G n.220-5472A>G c.105452T>C (p.Ile35151Thr) c.79346T>C (p.Ile26449Thr) c.79205T>C (p.Ile26402Thr) c.105248T>C (p.Ile35083Thr) c.100646T>C (p.Ile33549Thr) c.100643T>C (p.Ile33548Thr) c.97685T>C (p.Ile32562Thr) c.79301T>C (p.Ile26434Thr) c.100796T>C (p.Ile33599Thr) c.100793T>C (p.Ile33598Thr) c.100226T>C (p.Ile33409Thr) c.97568T>C (p.Ile32523Thr) c.97487T>C (p.Ile32496Thr) c.79250T>C (p.Ile26417Thr) c.69104T>C (p.Ile23035Thr) | dbSNP |
2 | g.178530260A>T | CA349405908 | TTN,TTN-AS1 | c.98651T>A (p.Ile32884Asn) c.79736T>A (p.Ile26579Asn) c.79535T>A (p.Ile26512Asn) c.79160T>A (p.Ile26387Asn) c.106355T>A (p.Ile35452Asn) c.101432T>A (p.Ile33811Asn) n.446+6624A>T n.220-5472A>T c.105452T>A (p.Ile35151Asn) c.79346T>A (p.Ile26449Asn) c.79205T>A (p.Ile26402Asn) c.105248T>A (p.Ile35083Asn) c.100646T>A (p.Ile33549Asn) c.100643T>A (p.Ile33548Asn) c.97685T>A (p.Ile32562Asn) c.79301T>A (p.Ile26434Asn) c.100796T>A (p.Ile33599Asn) c.100793T>A (p.Ile33598Asn) c.100226T>A (p.Ile33409Asn) c.97568T>A (p.Ile32523Asn) c.97487T>A (p.Ile32496Asn) c.79250T>A (p.Ile26417Asn) c.69104T>A (p.Ile23035Asn) | |
2 | g.178530261T>A | CA349405915 | TTN,TTN-AS1 | c.98650A>T (p.Ile32884Phe) c.79735A>T (p.Ile26579Phe) c.79534A>T (p.Ile26512Phe) c.79159A>T (p.Ile26387Phe) c.106354A>T (p.Ile35452Phe) c.101431A>T (p.Ile33811Phe) n.446+6625T>A n.220-5471T>A c.105451A>T (p.Ile35151Phe) c.79345A>T (p.Ile26449Phe) c.79204A>T (p.Ile26402Phe) c.105247A>T (p.Ile35083Phe) c.100645A>T (p.Ile33549Phe) c.100642A>T (p.Ile33548Phe) c.97684A>T (p.Ile32562Phe) c.79300A>T (p.Ile26434Phe) c.100795A>T (p.Ile33599Phe) c.100792A>T (p.Ile33598Phe) c.100225A>T (p.Ile33409Phe) c.97567A>T (p.Ile32523Phe) c.97486A>T (p.Ile32496Phe) c.79249A>T (p.Ile26417Phe) c.69103A>T (p.Ile23035Phe) | |
2 | g.178530261T>C | CA349405917 | TTN,TTN-AS1 | c.98650A>G (p.Ile32884Val) c.79735A>G (p.Ile26579Val) c.79534A>G (p.Ile26512Val) c.79159A>G (p.Ile26387Val) c.106354A>G (p.Ile35452Val) c.101431A>G (p.Ile33811Val) n.446+6625T>C n.220-5471T>C c.105451A>G (p.Ile35151Val) c.79345A>G (p.Ile26449Val) c.79204A>G (p.Ile26402Val) c.105247A>G (p.Ile35083Val) c.100645A>G (p.Ile33549Val) c.100642A>G (p.Ile33548Val) c.97684A>G (p.Ile32562Val) c.79300A>G (p.Ile26434Val) c.100795A>G (p.Ile33599Val) c.100792A>G (p.Ile33598Val) c.100225A>G (p.Ile33409Val) c.97567A>G (p.Ile32523Val) c.97486A>G (p.Ile32496Val) c.79249A>G (p.Ile26417Val) c.69103A>G (p.Ile23035Val) | |
2 | g.178530261T>G | CA349405919 | TTN,TTN-AS1 | c.98650A>C (p.Ile32884Leu) c.79735A>C (p.Ile26579Leu) c.79534A>C (p.Ile26512Leu) c.79159A>C (p.Ile26387Leu) c.106354A>C (p.Ile35452Leu) c.101431A>C (p.Ile33811Leu) n.446+6625T>G n.220-5471T>G c.105451A>C (p.Ile35151Leu) c.79345A>C (p.Ile26449Leu) c.79204A>C (p.Ile26402Leu) c.105247A>C (p.Ile35083Leu) c.100645A>C (p.Ile33549Leu) c.100642A>C (p.Ile33548Leu) c.97684A>C (p.Ile32562Leu) c.79300A>C (p.Ile26434Leu) c.100795A>C (p.Ile33599Leu) c.100792A>C (p.Ile33598Leu) c.100225A>C (p.Ile33409Leu) c.97567A>C (p.Ile32523Leu) c.97486A>C (p.Ile32496Leu) c.79249A>C (p.Ile26417Leu) c.69103A>C (p.Ile23035Leu) | |
2 | g.178530262G>A | CA430235028 | TTN,TTN-AS1 | c.98649C>T (p.Ala32883=) c.79734C>T (p.Ala26578=) c.79533C>T (p.Ala26511=) c.79158C>T (p.Ala26386=) c.106353C>T (p.Ala35451=) c.101430C>T (p.Ala33810=) n.446+6626G>A n.220-5470G>A c.105450C>T (p.Ala35150=) c.79344C>T (p.Ala26448=) c.79203C>T (p.Ala26401=) c.105246C>T (p.Ala35082=) c.100644C>T (p.Ala33548=) c.100641C>T (p.Ala33547=) c.97683C>T (p.Ala32561=) c.79299C>T (p.Ala26433=) c.100794C>T (p.Ala33598=) c.100791C>T (p.Ala33597=) c.100224C>T (p.Ala33408=) c.97566C>T (p.Ala32522=) c.97485C>T (p.Ala32495=) c.79248C>T (p.Ala26416=) c.69102C>T (p.Ala23034=) | gnomAD v4 |
2 | g.178530262G>C | CA430235030 | TTN,TTN-AS1 | c.98649C>G (p.Ala32883=) c.79734C>G (p.Ala26578=) c.79533C>G (p.Ala26511=) c.79158C>G (p.Ala26386=) c.106353C>G (p.Ala35451=) c.101430C>G (p.Ala33810=) n.446+6626G>C n.220-5470G>C c.105450C>G (p.Ala35150=) c.79344C>G (p.Ala26448=) c.79203C>G (p.Ala26401=) c.105246C>G (p.Ala35082=) c.100644C>G (p.Ala33548=) c.100641C>G (p.Ala33547=) c.97683C>G (p.Ala32561=) c.79299C>G (p.Ala26433=) c.100794C>G (p.Ala33598=) c.100791C>G (p.Ala33597=) c.100224C>G (p.Ala33408=) c.97566C>G (p.Ala32522=) c.97485C>G (p.Ala32495=) c.79248C>G (p.Ala26416=) c.69102C>G (p.Ala23034=) | |
2 | g.178530262G>T | CA430235029 | TTN,TTN-AS1 | c.98649C>A (p.Ala32883=) c.79734C>A (p.Ala26578=) c.79533C>A (p.Ala26511=) c.79158C>A (p.Ala26386=) c.106353C>A (p.Ala35451=) c.101430C>A (p.Ala33810=) n.446+6626G>T n.220-5470G>T c.105450C>A (p.Ala35150=) c.79344C>A (p.Ala26448=) c.79203C>A (p.Ala26401=) c.105246C>A (p.Ala35082=) c.100644C>A (p.Ala33548=) c.100641C>A (p.Ala33547=) c.97683C>A (p.Ala32561=) c.79299C>A (p.Ala26433=) c.100794C>A (p.Ala33598=) c.100791C>A (p.Ala33597=) c.100224C>A (p.Ala33408=) c.97566C>A (p.Ala32522=) c.97485C>A (p.Ala32495=) c.79248C>A (p.Ala26416=) c.69102C>A (p.Ala23034=) | |
2 | g.178530263G>A | CA349405925 | TTN,TTN-AS1 | c.98648C>T (p.Ala32883Val) c.79733C>T (p.Ala26578Val) c.79532C>T (p.Ala26511Val) c.79157C>T (p.Ala26386Val) c.106352C>T (p.Ala35451Val) c.101429C>T (p.Ala33810Val) n.446+6627G>A n.220-5469G>A c.105449C>T (p.Ala35150Val) c.79343C>T (p.Ala26448Val) c.79202C>T (p.Ala26401Val) c.105245C>T (p.Ala35082Val) c.100643C>T (p.Ala33548Val) c.100640C>T (p.Ala33547Val) c.97682C>T (p.Ala32561Val) c.79298C>T (p.Ala26433Val) c.100793C>T (p.Ala33598Val) c.100790C>T (p.Ala33597Val) c.100223C>T (p.Ala33408Val) c.97565C>T (p.Ala32522Val) c.97484C>T (p.Ala32495Val) c.79247C>T (p.Ala26416Val) c.69101C>T (p.Ala23034Val) | dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530263G>C | CA349405928 | TTN,TTN-AS1 | c.98648C>G (p.Ala32883Gly) c.79733C>G (p.Ala26578Gly) c.79532C>G (p.Ala26511Gly) c.79157C>G (p.Ala26386Gly) c.106352C>G (p.Ala35451Gly) c.101429C>G (p.Ala33810Gly) n.446+6627G>C n.220-5469G>C c.105449C>G (p.Ala35150Gly) c.79343C>G (p.Ala26448Gly) c.79202C>G (p.Ala26401Gly) c.105245C>G (p.Ala35082Gly) c.100643C>G (p.Ala33548Gly) c.100640C>G (p.Ala33547Gly) c.97682C>G (p.Ala32561Gly) c.79298C>G (p.Ala26433Gly) c.100793C>G (p.Ala33598Gly) c.100790C>G (p.Ala33597Gly) c.100223C>G (p.Ala33408Gly) c.97565C>G (p.Ala32522Gly) c.97484C>G (p.Ala32495Gly) c.79247C>G (p.Ala26416Gly) c.69101C>G (p.Ala23034Gly) | |
2 | g.178530263G>T | CA349405934 | TTN,TTN-AS1 | c.98648C>A (p.Ala32883Asp) c.79733C>A (p.Ala26578Asp) c.79532C>A (p.Ala26511Asp) c.79157C>A (p.Ala26386Asp) c.106352C>A (p.Ala35451Asp) c.101429C>A (p.Ala33810Asp) n.446+6627G>T n.220-5469G>T c.105449C>A (p.Ala35150Asp) c.79343C>A (p.Ala26448Asp) c.79202C>A (p.Ala26401Asp) c.105245C>A (p.Ala35082Asp) c.100643C>A (p.Ala33548Asp) c.100640C>A (p.Ala33547Asp) c.97682C>A (p.Ala32561Asp) c.79298C>A (p.Ala26433Asp) c.100793C>A (p.Ala33598Asp) c.100790C>A (p.Ala33597Asp) c.100223C>A (p.Ala33408Asp) c.97565C>A (p.Ala32522Asp) c.97484C>A (p.Ala32495Asp) c.79247C>A (p.Ala26416Asp) c.69101C>A (p.Ala23034Asp) | |
2 | g.178530264C>A | CA349405940 | TTN,TTN-AS1 | c.98647G>T (p.Ala32883Ser) c.79732G>T (p.Ala26578Ser) c.79531G>T (p.Ala26511Ser) c.79156G>T (p.Ala26386Ser) c.106351G>T (p.Ala35451Ser) c.101428G>T (p.Ala33810Ser) n.446+6628C>A n.220-5468C>A c.105448G>T (p.Ala35150Ser) c.79342G>T (p.Ala26448Ser) c.79201G>T (p.Ala26401Ser) c.105244G>T (p.Ala35082Ser) c.100642G>T (p.Ala33548Ser) c.100639G>T (p.Ala33547Ser) c.97681G>T (p.Ala32561Ser) c.79297G>T (p.Ala26433Ser) c.100792G>T (p.Ala33598Ser) c.100789G>T (p.Ala33597Ser) c.100222G>T (p.Ala33408Ser) c.97564G>T (p.Ala32522Ser) c.97483G>T (p.Ala32495Ser) c.79246G>T (p.Ala26416Ser) c.69100G>T (p.Ala23034Ser) | |
2 | g.178530264C>G | CA349405943 | TTN,TTN-AS1 | c.98647G>C (p.Ala32883Pro) c.79732G>C (p.Ala26578Pro) c.79531G>C (p.Ala26511Pro) c.79156G>C (p.Ala26386Pro) c.106351G>C (p.Ala35451Pro) c.101428G>C (p.Ala33810Pro) n.446+6628C>G n.220-5468C>G c.105448G>C (p.Ala35150Pro) c.79342G>C (p.Ala26448Pro) c.79201G>C (p.Ala26401Pro) c.105244G>C (p.Ala35082Pro) c.100642G>C (p.Ala33548Pro) c.100639G>C (p.Ala33547Pro) c.97681G>C (p.Ala32561Pro) c.79297G>C (p.Ala26433Pro) c.100792G>C (p.Ala33598Pro) c.100789G>C (p.Ala33597Pro) c.100222G>C (p.Ala33408Pro) c.97564G>C (p.Ala32522Pro) c.97483G>C (p.Ala32495Pro) c.79246G>C (p.Ala26416Pro) c.69100G>C (p.Ala23034Pro) | |
2 | g.178530264C>T | CA349405937 | TTN,TTN-AS1 | c.98647G>A (p.Ala32883Thr) c.79732G>A (p.Ala26578Thr) c.79531G>A (p.Ala26511Thr) c.79156G>A (p.Ala26386Thr) c.106351G>A (p.Ala35451Thr) c.101428G>A (p.Ala33810Thr) n.446+6628C>T n.220-5468C>T c.105448G>A (p.Ala35150Thr) c.79342G>A (p.Ala26448Thr) c.79201G>A (p.Ala26401Thr) c.105244G>A (p.Ala35082Thr) c.100642G>A (p.Ala33548Thr) c.100639G>A (p.Ala33547Thr) c.97681G>A (p.Ala32561Thr) c.79297G>A (p.Ala26433Thr) c.100792G>A (p.Ala33598Thr) c.100789G>A (p.Ala33597Thr) c.100222G>A (p.Ala33408Thr) c.97564G>A (p.Ala32522Thr) c.97483G>A (p.Ala32495Thr) c.79246G>A (p.Ala26416Thr) c.69100G>A (p.Ala23034Thr) | |
2 | g.178530265A= | CA1310511687 | TTN,TTN-AS1 | c.98646T= (p.Thr32882=) c.79731T= (p.Thr26577=) c.79530T= (p.Thr26510=) c.79155T= (p.Thr26385=) c.106350T= (p.Thr35450=) c.101427T= (p.Thr33809=) n.446+6629A= n.220-5467A= c.105447T= (p.Thr35149=) c.79341T= (p.Thr26447=) c.79200T= (p.Thr26400=) c.105243T= (p.Thr35081=) c.100641T= (p.Thr33547=) c.100638T= (p.Thr33546=) c.97680T= (p.Thr32560=) c.79296T= (p.Thr26432=) c.100791T= (p.Thr33597=) c.100788T= (p.Thr33596=) c.100221T= (p.Thr33407=) c.97563T= (p.Thr32521=) c.97482T= (p.Thr32494=) c.79245T= (p.Thr26415=) c.69099T= (p.Thr23033=) | |
2 | g.178530265A>C | CA430235036 | TTN,TTN-AS1 | c.98646T>G (p.Thr32882=) c.79731T>G (p.Thr26577=) c.79530T>G (p.Thr26510=) c.79155T>G (p.Thr26385=) c.106350T>G (p.Thr35450=) c.101427T>G (p.Thr33809=) n.446+6629A>C n.220-5467A>C c.105447T>G (p.Thr35149=) c.79341T>G (p.Thr26447=) c.79200T>G (p.Thr26400=) c.105243T>G (p.Thr35081=) c.100641T>G (p.Thr33547=) c.100638T>G (p.Thr33546=) c.97680T>G (p.Thr32560=) c.79296T>G (p.Thr26432=) c.100791T>G (p.Thr33597=) c.100788T>G (p.Thr33596=) c.100221T>G (p.Thr33407=) c.97563T>G (p.Thr32521=) c.97482T>G (p.Thr32494=) c.79245T>G (p.Thr26415=) c.69099T>G (p.Thr23033=) | |
2 | g.178530265A>G | CA1985125 | TTN,TTN-AS1 | c.98646T>C (p.Thr32882=) c.79731T>C (p.Thr26577=) c.79530T>C (p.Thr26510=) c.79155T>C (p.Thr26385=) c.106350T>C (p.Thr35450=) c.101427T>C (p.Thr33809=) n.446+6629A>G n.220-5467A>G c.105447T>C (p.Thr35149=) c.79341T>C (p.Thr26447=) c.79200T>C (p.Thr26400=) c.105243T>C (p.Thr35081=) c.100641T>C (p.Thr33547=) c.100638T>C (p.Thr33546=) c.97680T>C (p.Thr32560=) c.79296T>C (p.Thr26432=) c.100791T>C (p.Thr33597=) c.100788T>C (p.Thr33596=) c.100221T>C (p.Thr33407=) c.97563T>C (p.Thr32521=) c.97482T>C (p.Thr32494=) c.79245T>C (p.Thr26415=) c.69099T>C (p.Thr23033=) | dbSNP ExAC gnomAD v2 |
2 | g.178530265A>T | CA430235038 | TTN,TTN-AS1 | c.98646T>A (p.Thr32882=) c.79731T>A (p.Thr26577=) c.79530T>A (p.Thr26510=) c.79155T>A (p.Thr26385=) c.106350T>A (p.Thr35450=) c.101427T>A (p.Thr33809=) n.446+6629A>T n.220-5467A>T c.105447T>A (p.Thr35149=) c.79341T>A (p.Thr26447=) c.79200T>A (p.Thr26400=) c.105243T>A (p.Thr35081=) c.100641T>A (p.Thr33547=) c.100638T>A (p.Thr33546=) c.97680T>A (p.Thr32560=) c.79296T>A (p.Thr26432=) c.100791T>A (p.Thr33597=) c.100788T>A (p.Thr33596=) c.100221T>A (p.Thr33407=) c.97563T>A (p.Thr32521=) c.97482T>A (p.Thr32494=) c.79245T>A (p.Thr26415=) c.69099T>A (p.Thr23033=) | |
2 | g.178530266G>A | CA349405951 | TTN,TTN-AS1 | c.98645C>T (p.Thr32882Ile) c.79730C>T (p.Thr26577Ile) c.79529C>T (p.Thr26510Ile) c.79154C>T (p.Thr26385Ile) c.106349C>T (p.Thr35450Ile) c.101426C>T (p.Thr33809Ile) n.446+6630G>A n.220-5466G>A c.105446C>T (p.Thr35149Ile) c.79340C>T (p.Thr26447Ile) c.79199C>T (p.Thr26400Ile) c.105242C>T (p.Thr35081Ile) c.100640C>T (p.Thr33547Ile) c.100637C>T (p.Thr33546Ile) c.97679C>T (p.Thr32560Ile) c.79295C>T (p.Thr26432Ile) c.100790C>T (p.Thr33597Ile) c.100787C>T (p.Thr33596Ile) c.100220C>T (p.Thr33407Ile) c.97562C>T (p.Thr32521Ile) c.97481C>T (p.Thr32494Ile) c.79244C>T (p.Thr26415Ile) c.69098C>T (p.Thr23033Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.178530266G>C | CA1985126 | TTN,TTN-AS1 | c.98645C>G (p.Thr32882Ser) c.79730C>G (p.Thr26577Ser) c.79529C>G (p.Thr26510Ser) c.79154C>G (p.Thr26385Ser) c.106349C>G (p.Thr35450Ser) c.101426C>G (p.Thr33809Ser) n.446+6630G>C n.220-5466G>C c.105446C>G (p.Thr35149Ser) c.79340C>G (p.Thr26447Ser) c.79199C>G (p.Thr26400Ser) c.105242C>G (p.Thr35081Ser) c.100640C>G (p.Thr33547Ser) c.100637C>G (p.Thr33546Ser) c.97679C>G (p.Thr32560Ser) c.79295C>G (p.Thr26432Ser) c.100790C>G (p.Thr33597Ser) c.100787C>G (p.Thr33596Ser) c.100220C>G (p.Thr33407Ser) c.97562C>G (p.Thr32521Ser) c.97481C>G (p.Thr32494Ser) c.79244C>G (p.Thr26415Ser) c.69098C>G (p.Thr23033Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530266G= | CA1310511693 | TTN,TTN-AS1 | c.98645C= (p.Thr32882=) c.79730C= (p.Thr26577=) c.79529C= (p.Thr26510=) c.79154C= (p.Thr26385=) c.106349C= (p.Thr35450=) c.101426C= (p.Thr33809=) n.446+6630G= n.220-5466G= c.105446C= (p.Thr35149=) c.79340C= (p.Thr26447=) c.79199C= (p.Thr26400=) c.105242C= (p.Thr35081=) c.100640C= (p.Thr33547=) c.100637C= (p.Thr33546=) c.97679C= (p.Thr32560=) c.79295C= (p.Thr26432=) c.100790C= (p.Thr33597=) c.100787C= (p.Thr33596=) c.100220C= (p.Thr33407=) c.97562C= (p.Thr32521=) c.97481C= (p.Thr32494=) c.79244C= (p.Thr26415=) c.69098C= (p.Thr23033=) | |
2 | g.178530266G>T | CA349405955 | TTN,TTN-AS1 | c.98645C>A (p.Thr32882Asn) c.79730C>A (p.Thr26577Asn) c.79529C>A (p.Thr26510Asn) c.79154C>A (p.Thr26385Asn) c.106349C>A (p.Thr35450Asn) c.101426C>A (p.Thr33809Asn) n.446+6630G>T n.220-5466G>T c.105446C>A (p.Thr35149Asn) c.79340C>A (p.Thr26447Asn) c.79199C>A (p.Thr26400Asn) c.105242C>A (p.Thr35081Asn) c.100640C>A (p.Thr33547Asn) c.100637C>A (p.Thr33546Asn) c.97679C>A (p.Thr32560Asn) c.79295C>A (p.Thr26432Asn) c.100790C>A (p.Thr33597Asn) c.100787C>A (p.Thr33596Asn) c.100220C>A (p.Thr33407Asn) c.97562C>A (p.Thr32521Asn) c.97481C>A (p.Thr32494Asn) c.79244C>A (p.Thr26415Asn) c.69098C>A (p.Thr23033Asn) | |
2 | g.178530267T>A | CA349405967 | TTN,TTN-AS1 | c.98644A>T (p.Thr32882Ser) c.79729A>T (p.Thr26577Ser) c.79528A>T (p.Thr26510Ser) c.79153A>T (p.Thr26385Ser) c.106348A>T (p.Thr35450Ser) c.101425A>T (p.Thr33809Ser) n.446+6631T>A n.220-5465T>A c.105445A>T (p.Thr35149Ser) c.79339A>T (p.Thr26447Ser) c.79198A>T (p.Thr26400Ser) c.105241A>T (p.Thr35081Ser) c.100639A>T (p.Thr33547Ser) c.100636A>T (p.Thr33546Ser) c.97678A>T (p.Thr32560Ser) c.79294A>T (p.Thr26432Ser) c.100789A>T (p.Thr33597Ser) c.100786A>T (p.Thr33596Ser) c.100219A>T (p.Thr33407Ser) c.97561A>T (p.Thr32521Ser) c.97480A>T (p.Thr32494Ser) c.79243A>T (p.Thr26415Ser) c.69097A>T (p.Thr23033Ser) | |
2 | g.178530267T>C | CA349405965 | TTN,TTN-AS1 | c.98644A>G (p.Thr32882Ala) c.79729A>G (p.Thr26577Ala) c.79528A>G (p.Thr26510Ala) c.79153A>G (p.Thr26385Ala) c.106348A>G (p.Thr35450Ala) c.101425A>G (p.Thr33809Ala) n.446+6631T>C n.220-5465T>C c.105445A>G (p.Thr35149Ala) c.79339A>G (p.Thr26447Ala) c.79198A>G (p.Thr26400Ala) c.105241A>G (p.Thr35081Ala) c.100639A>G (p.Thr33547Ala) c.100636A>G (p.Thr33546Ala) c.97678A>G (p.Thr32560Ala) c.79294A>G (p.Thr26432Ala) c.100789A>G (p.Thr33597Ala) c.100786A>G (p.Thr33596Ala) c.100219A>G (p.Thr33407Ala) c.97561A>G (p.Thr32521Ala) c.97480A>G (p.Thr32494Ala) c.79243A>G (p.Thr26415Ala) c.69097A>G (p.Thr23033Ala) | |
2 | g.178530267T>G | CA349405961 | TTN,TTN-AS1 | c.98644A>C (p.Thr32882Pro) c.79729A>C (p.Thr26577Pro) c.79528A>C (p.Thr26510Pro) c.79153A>C (p.Thr26385Pro) c.106348A>C (p.Thr35450Pro) c.101425A>C (p.Thr33809Pro) n.446+6631T>G n.220-5465T>G c.105445A>C (p.Thr35149Pro) c.79339A>C (p.Thr26447Pro) c.79198A>C (p.Thr26400Pro) c.105241A>C (p.Thr35081Pro) c.100639A>C (p.Thr33547Pro) c.100636A>C (p.Thr33546Pro) c.97678A>C (p.Thr32560Pro) c.79294A>C (p.Thr26432Pro) c.100789A>C (p.Thr33597Pro) c.100786A>C (p.Thr33596Pro) c.100219A>C (p.Thr33407Pro) c.97561A>C (p.Thr32521Pro) c.97480A>C (p.Thr32494Pro) c.79243A>C (p.Thr26415Pro) c.69097A>C (p.Thr23033Pro) | |
2 | g.178530268T>A | CA430235042 | TTN,TTN-AS1 | c.98643A>T (p.Pro32881=) c.79728A>T (p.Pro26576=) c.79527A>T (p.Pro26509=) c.79152A>T (p.Pro26384=) c.106347A>T (p.Pro35449=) c.101424A>T (p.Pro33808=) n.446+6632T>A n.220-5464T>A c.105444A>T (p.Pro35148=) c.79338A>T (p.Pro26446=) c.79197A>T (p.Pro26399=) c.105240A>T (p.Pro35080=) c.100638A>T (p.Pro33546=) c.100635A>T (p.Pro33545=) c.97677A>T (p.Pro32559=) c.79293A>T (p.Pro26431=) c.100788A>T (p.Pro33596=) c.100785A>T (p.Pro33595=) c.100218A>T (p.Pro33406=) c.97560A>T (p.Pro32520=) c.97479A>T (p.Pro32493=) c.79242A>T (p.Pro26414=) c.69096A>T (p.Pro23032=) | |
2 | g.178530268T>C | CA430235045 | TTN,TTN-AS1 | c.98643A>G (p.Pro32881=) c.79728A>G (p.Pro26576=) c.79527A>G (p.Pro26509=) c.79152A>G (p.Pro26384=) c.106347A>G (p.Pro35449=) c.101424A>G (p.Pro33808=) n.446+6632T>C n.220-5464T>C c.105444A>G (p.Pro35148=) c.79338A>G (p.Pro26446=) c.79197A>G (p.Pro26399=) c.105240A>G (p.Pro35080=) c.100638A>G (p.Pro33546=) c.100635A>G (p.Pro33545=) c.97677A>G (p.Pro32559=) c.79293A>G (p.Pro26431=) c.100788A>G (p.Pro33596=) c.100785A>G (p.Pro33595=) c.100218A>G (p.Pro33406=) c.97560A>G (p.Pro32520=) c.97479A>G (p.Pro32493=) c.79242A>G (p.Pro26414=) c.69096A>G (p.Pro23032=) | |
2 | g.178530268T>G | CA430235044 | TTN,TTN-AS1 | c.98643A>C (p.Pro32881=) c.79728A>C (p.Pro26576=) c.79527A>C (p.Pro26509=) c.79152A>C (p.Pro26384=) c.106347A>C (p.Pro35449=) c.101424A>C (p.Pro33808=) n.446+6632T>G n.220-5464T>G c.105444A>C (p.Pro35148=) c.79338A>C (p.Pro26446=) c.79197A>C (p.Pro26399=) c.105240A>C (p.Pro35080=) c.100638A>C (p.Pro33546=) c.100635A>C (p.Pro33545=) c.97677A>C (p.Pro32559=) c.79293A>C (p.Pro26431=) c.100788A>C (p.Pro33596=) c.100785A>C (p.Pro33595=) c.100218A>C (p.Pro33406=) c.97560A>C (p.Pro32520=) c.97479A>C (p.Pro32493=) c.79242A>C (p.Pro26414=) c.69096A>C (p.Pro23032=) | |
2 | g.178530269G>A | CA349405969 | TTN,TTN-AS1 | c.98642C>T (p.Pro32881Leu) c.79727C>T (p.Pro26576Leu) c.79526C>T (p.Pro26509Leu) c.79151C>T (p.Pro26384Leu) c.106346C>T (p.Pro35449Leu) c.101423C>T (p.Pro33808Leu) n.446+6633G>A n.220-5463G>A c.105443C>T (p.Pro35148Leu) c.79337C>T (p.Pro26446Leu) c.79196C>T (p.Pro26399Leu) c.105239C>T (p.Pro35080Leu) c.100637C>T (p.Pro33546Leu) c.100634C>T (p.Pro33545Leu) c.97676C>T (p.Pro32559Leu) c.79292C>T (p.Pro26431Leu) c.100787C>T (p.Pro33596Leu) c.100784C>T (p.Pro33595Leu) c.100217C>T (p.Pro33406Leu) c.97559C>T (p.Pro32520Leu) c.97478C>T (p.Pro32493Leu) c.79241C>T (p.Pro26414Leu) c.69095C>T (p.Pro23032Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530269G>C | CA349405971 | TTN,TTN-AS1 | c.98642C>G (p.Pro32881Arg) c.79727C>G (p.Pro26576Arg) c.79526C>G (p.Pro26509Arg) c.79151C>G (p.Pro26384Arg) c.106346C>G (p.Pro35449Arg) c.101423C>G (p.Pro33808Arg) n.446+6633G>C n.220-5463G>C c.105443C>G (p.Pro35148Arg) c.79337C>G (p.Pro26446Arg) c.79196C>G (p.Pro26399Arg) c.105239C>G (p.Pro35080Arg) c.100637C>G (p.Pro33546Arg) c.100634C>G (p.Pro33545Arg) c.97676C>G (p.Pro32559Arg) c.79292C>G (p.Pro26431Arg) c.100787C>G (p.Pro33596Arg) c.100784C>G (p.Pro33595Arg) c.100217C>G (p.Pro33406Arg) c.97559C>G (p.Pro32520Arg) c.97478C>G (p.Pro32493Arg) c.79241C>G (p.Pro26414Arg) c.69095C>G (p.Pro23032Arg) | |
2 | g.178530269G= | CA1310511695 | TTN,TTN-AS1 | c.98642C= (p.Pro32881=) c.79727C= (p.Pro26576=) c.79526C= (p.Pro26509=) c.79151C= (p.Pro26384=) c.106346C= (p.Pro35449=) c.101423C= (p.Pro33808=) n.446+6633G= n.220-5463G= c.105443C= (p.Pro35148=) c.79337C= (p.Pro26446=) c.79196C= (p.Pro26399=) c.105239C= (p.Pro35080=) c.100637C= (p.Pro33546=) c.100634C= (p.Pro33545=) c.97676C= (p.Pro32559=) c.79292C= (p.Pro26431=) c.100787C= (p.Pro33596=) c.100784C= (p.Pro33595=) c.100217C= (p.Pro33406=) c.97559C= (p.Pro32520=) c.97478C= (p.Pro32493=) c.79241C= (p.Pro26414=) c.69095C= (p.Pro23032=) | |
2 | g.178530269G>T | CA349405974 | TTN,TTN-AS1 | c.98642C>A (p.Pro32881Gln) c.79727C>A (p.Pro26576Gln) c.79526C>A (p.Pro26509Gln) c.79151C>A (p.Pro26384Gln) c.106346C>A (p.Pro35449Gln) c.101423C>A (p.Pro33808Gln) n.446+6633G>T n.220-5463G>T c.105443C>A (p.Pro35148Gln) c.79337C>A (p.Pro26446Gln) c.79196C>A (p.Pro26399Gln) c.105239C>A (p.Pro35080Gln) c.100637C>A (p.Pro33546Gln) c.100634C>A (p.Pro33545Gln) c.97676C>A (p.Pro32559Gln) c.79292C>A (p.Pro26431Gln) c.100787C>A (p.Pro33596Gln) c.100784C>A (p.Pro33595Gln) c.100217C>A (p.Pro33406Gln) c.97559C>A (p.Pro32520Gln) c.97478C>A (p.Pro32493Gln) c.79241C>A (p.Pro26414Gln) c.69095C>A (p.Pro23032Gln) | dbSNP gnomAD v4 |
2 | g.178530270G>A | CA349405984 | TTN,TTN-AS1 | c.98641C>T (p.Pro32881Ser) c.79726C>T (p.Pro26576Ser) c.79525C>T (p.Pro26509Ser) c.79150C>T (p.Pro26384Ser) c.106345C>T (p.Pro35449Ser) c.101422C>T (p.Pro33808Ser) n.446+6634G>A n.220-5462G>A c.105442C>T (p.Pro35148Ser) c.79336C>T (p.Pro26446Ser) c.79195C>T (p.Pro26399Ser) c.105238C>T (p.Pro35080Ser) c.100636C>T (p.Pro33546Ser) c.100633C>T (p.Pro33545Ser) c.97675C>T (p.Pro32559Ser) c.79291C>T (p.Pro26431Ser) c.100786C>T (p.Pro33596Ser) c.100783C>T (p.Pro33595Ser) c.100216C>T (p.Pro33406Ser) c.97558C>T (p.Pro32520Ser) c.97477C>T (p.Pro32493Ser) c.79240C>T (p.Pro26414Ser) c.69094C>T (p.Pro23032Ser) | |
2 | g.178530270G>C | CA349405985 | TTN,TTN-AS1 | c.98641C>G (p.Pro32881Ala) c.79726C>G (p.Pro26576Ala) c.79525C>G (p.Pro26509Ala) c.79150C>G (p.Pro26384Ala) c.106345C>G (p.Pro35449Ala) c.101422C>G (p.Pro33808Ala) n.446+6634G>C n.220-5462G>C c.105442C>G (p.Pro35148Ala) c.79336C>G (p.Pro26446Ala) c.79195C>G (p.Pro26399Ala) c.105238C>G (p.Pro35080Ala) c.100636C>G (p.Pro33546Ala) c.100633C>G (p.Pro33545Ala) c.97675C>G (p.Pro32559Ala) c.79291C>G (p.Pro26431Ala) c.100786C>G (p.Pro33596Ala) c.100783C>G (p.Pro33595Ala) c.100216C>G (p.Pro33406Ala) c.97558C>G (p.Pro32520Ala) c.97477C>G (p.Pro32493Ala) c.79240C>G (p.Pro26414Ala) c.69094C>G (p.Pro23032Ala) | |
2 | g.178530270G>T | CA349405986 | TTN,TTN-AS1 | c.98641C>A (p.Pro32881Thr) c.79726C>A (p.Pro26576Thr) c.79525C>A (p.Pro26509Thr) c.79150C>A (p.Pro26384Thr) c.106345C>A (p.Pro35449Thr) c.101422C>A (p.Pro33808Thr) n.446+6634G>T n.220-5462G>T c.105442C>A (p.Pro35148Thr) c.79336C>A (p.Pro26446Thr) c.79195C>A (p.Pro26399Thr) c.105238C>A (p.Pro35080Thr) c.100636C>A (p.Pro33546Thr) c.100633C>A (p.Pro33545Thr) c.97675C>A (p.Pro32559Thr) c.79291C>A (p.Pro26431Thr) c.100786C>A (p.Pro33596Thr) c.100783C>A (p.Pro33595Thr) c.100216C>A (p.Pro33406Thr) c.97558C>A (p.Pro32520Thr) c.97477C>A (p.Pro32493Thr) c.79240C>A (p.Pro26414Thr) c.69094C>A (p.Pro23032Thr) | |
2 | g.178530271C>A | CA430235047 | TTN,TTN-AS1 | c.98640G>T (p.Arg32880=) c.79725G>T (p.Arg26575=) c.79524G>T (p.Arg26508=) c.79149G>T (p.Arg26383=) c.106344G>T (p.Arg35448=) c.101421G>T (p.Arg33807=) n.446+6635C>A n.220-5461C>A c.105441G>T (p.Arg35147=) c.79335G>T (p.Arg26445=) c.79194G>T (p.Arg26398=) c.105237G>T (p.Arg35079=) c.100635G>T (p.Arg33545=) c.100632G>T (p.Arg33544=) c.97674G>T (p.Arg32558=) c.79290G>T (p.Arg26430=) c.100785G>T (p.Arg33595=) c.100782G>T (p.Arg33594=) c.100215G>T (p.Arg33405=) c.97557G>T (p.Arg32519=) c.97476G>T (p.Arg32492=) c.79239G>T (p.Arg26413=) c.69093G>T (p.Arg23031=) | |
2 | g.178530271C>G | CA430235048 | TTN,TTN-AS1 | c.98640G>C (p.Arg32880=) c.79725G>C (p.Arg26575=) c.79524G>C (p.Arg26508=) c.79149G>C (p.Arg26383=) c.106344G>C (p.Arg35448=) c.101421G>C (p.Arg33807=) n.446+6635C>G n.220-5461C>G c.105441G>C (p.Arg35147=) c.79335G>C (p.Arg26445=) c.79194G>C (p.Arg26398=) c.105237G>C (p.Arg35079=) c.100635G>C (p.Arg33545=) c.100632G>C (p.Arg33544=) c.97674G>C (p.Arg32558=) c.79290G>C (p.Arg26430=) c.100785G>C (p.Arg33595=) c.100782G>C (p.Arg33594=) c.100215G>C (p.Arg33405=) c.97557G>C (p.Arg32519=) c.97476G>C (p.Arg32492=) c.79239G>C (p.Arg26413=) c.69093G>C (p.Arg23031=) | |
2 | g.178530271C>T | CA430235049 | TTN,TTN-AS1 | c.98640G>A (p.Arg32880=) c.79725G>A (p.Arg26575=) c.79524G>A (p.Arg26508=) c.79149G>A (p.Arg26383=) c.106344G>A (p.Arg35448=) c.101421G>A (p.Arg33807=) n.446+6635C>T n.220-5461C>T c.105441G>A (p.Arg35147=) c.79335G>A (p.Arg26445=) c.79194G>A (p.Arg26398=) c.105237G>A (p.Arg35079=) c.100635G>A (p.Arg33545=) c.100632G>A (p.Arg33544=) c.97674G>A (p.Arg32558=) c.79290G>A (p.Arg26430=) c.100785G>A (p.Arg33595=) c.100782G>A (p.Arg33594=) c.100215G>A (p.Arg33405=) c.97557G>A (p.Arg32519=) c.97476G>A (p.Arg32492=) c.79239G>A (p.Arg26413=) c.69093G>A (p.Arg23031=) | ClinVar COSMIC COSMIC COSMIC COSMIC |
2 | g.178530272C>A | CA349405987 | TTN,TTN-AS1 | c.98639G>T (p.Arg32880Leu) c.79724G>T (p.Arg26575Leu) c.79523G>T (p.Arg26508Leu) c.79148G>T (p.Arg26383Leu) c.106343G>T (p.Arg35448Leu) c.101420G>T (p.Arg33807Leu) n.446+6636C>A n.220-5460C>A c.105440G>T (p.Arg35147Leu) c.79334G>T (p.Arg26445Leu) c.79193G>T (p.Arg26398Leu) c.105236G>T (p.Arg35079Leu) c.100634G>T (p.Arg33545Leu) c.100631G>T (p.Arg33544Leu) c.97673G>T (p.Arg32558Leu) c.79289G>T (p.Arg26430Leu) c.100784G>T (p.Arg33595Leu) c.100781G>T (p.Arg33594Leu) c.100214G>T (p.Arg33405Leu) c.97556G>T (p.Arg32519Leu) c.97475G>T (p.Arg32492Leu) c.79238G>T (p.Arg26413Leu) c.69092G>T (p.Arg23031Leu) | |
2 | g.178530272C= | CA1310511701 | TTN,TTN-AS1 | c.98639G= (p.Arg32880=) c.79724G= (p.Arg26575=) c.79523G= (p.Arg26508=) c.79148G= (p.Arg26383=) c.106343G= (p.Arg35448=) c.101420G= (p.Arg33807=) n.446+6636C= n.220-5460C= c.105440G= (p.Arg35147=) c.79334G= (p.Arg26445=) c.79193G= (p.Arg26398=) c.105236G= (p.Arg35079=) c.100634G= (p.Arg33545=) c.100631G= (p.Arg33544=) c.97673G= (p.Arg32558=) c.79289G= (p.Arg26430=) c.100784G= (p.Arg33595=) c.100781G= (p.Arg33594=) c.100214G= (p.Arg33405=) c.97556G= (p.Arg32519=) c.97475G= (p.Arg32492=) c.79238G= (p.Arg26413=) c.69092G= (p.Arg23031=) | |
2 | g.178530272C>G | CA60953241 | TTN,TTN-AS1 | c.98639G>C (p.Arg32880Pro) c.79724G>C (p.Arg26575Pro) c.79523G>C (p.Arg26508Pro) c.79148G>C (p.Arg26383Pro) c.106343G>C (p.Arg35448Pro) c.101420G>C (p.Arg33807Pro) n.446+6636C>G n.220-5460C>G c.105440G>C (p.Arg35147Pro) c.79334G>C (p.Arg26445Pro) c.79193G>C (p.Arg26398Pro) c.105236G>C (p.Arg35079Pro) c.100634G>C (p.Arg33545Pro) c.100631G>C (p.Arg33544Pro) c.97673G>C (p.Arg32558Pro) c.79289G>C (p.Arg26430Pro) c.100784G>C (p.Arg33595Pro) c.100781G>C (p.Arg33594Pro) c.100214G>C (p.Arg33405Pro) c.97556G>C (p.Arg32519Pro) c.97475G>C (p.Arg32492Pro) c.79238G>C (p.Arg26413Pro) c.69092G>C (p.Arg23031Pro) | dbSNP |
2 | g.178530272C>T | CA302375 | TTN,TTN-AS1 | c.98639G>A (p.Arg32880Gln) c.79724G>A (p.Arg26575Gln) c.79523G>A (p.Arg26508Gln) c.79148G>A (p.Arg26383Gln) c.106343G>A (p.Arg35448Gln) c.101420G>A (p.Arg33807Gln) n.446+6636C>T n.220-5460C>T c.105440G>A (p.Arg35147Gln) c.79334G>A (p.Arg26445Gln) c.79193G>A (p.Arg26398Gln) c.105236G>A (p.Arg35079Gln) c.100634G>A (p.Arg33545Gln) c.100631G>A (p.Arg33544Gln) c.97673G>A (p.Arg32558Gln) c.79289G>A (p.Arg26430Gln) c.100784G>A (p.Arg33595Gln) c.100781G>A (p.Arg33594Gln) c.100214G>A (p.Arg33405Gln) c.97556G>A (p.Arg32519Gln) c.97475G>A (p.Arg32492Gln) c.79238G>A (p.Arg26413Gln) c.69092G>A (p.Arg23031Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530273G>A | CA1985127 | TTN,TTN-AS1 | c.98638C>T (p.Arg32880Trp) c.79723C>T (p.Arg26575Trp) c.79522C>T (p.Arg26508Trp) c.79147C>T (p.Arg26383Trp) c.106342C>T (p.Arg35448Trp) c.101419C>T (p.Arg33807Trp) n.446+6637G>A n.220-5459G>A c.105439C>T (p.Arg35147Trp) c.79333C>T (p.Arg26445Trp) c.79192C>T (p.Arg26398Trp) c.105235C>T (p.Arg35079Trp) c.100633C>T (p.Arg33545Trp) c.100630C>T (p.Arg33544Trp) c.97672C>T (p.Arg32558Trp) c.79288C>T (p.Arg26430Trp) c.100783C>T (p.Arg33595Trp) c.100780C>T (p.Arg33594Trp) c.100213C>T (p.Arg33405Trp) c.97555C>T (p.Arg32519Trp) c.97474C>T (p.Arg32492Trp) c.79237C>T (p.Arg26413Trp) c.69091C>T (p.Arg23031Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530273G>C | CA349405990 | TTN,TTN-AS1 | c.98638C>G (p.Arg32880Gly) c.79723C>G (p.Arg26575Gly) c.79522C>G (p.Arg26508Gly) c.79147C>G (p.Arg26383Gly) c.106342C>G (p.Arg35448Gly) c.101419C>G (p.Arg33807Gly) n.446+6637G>C n.220-5459G>C c.105439C>G (p.Arg35147Gly) c.79333C>G (p.Arg26445Gly) c.79192C>G (p.Arg26398Gly) c.105235C>G (p.Arg35079Gly) c.100633C>G (p.Arg33545Gly) c.100630C>G (p.Arg33544Gly) c.97672C>G (p.Arg32558Gly) c.79288C>G (p.Arg26430Gly) c.100783C>G (p.Arg33595Gly) c.100780C>G (p.Arg33594Gly) c.100213C>G (p.Arg33405Gly) c.97555C>G (p.Arg32519Gly) c.97474C>G (p.Arg32492Gly) c.79237C>G (p.Arg26413Gly) c.69091C>G (p.Arg23031Gly) | |
2 | g.178530273G= | CA1310511709 | TTN,TTN-AS1 | c.98638C= (p.Arg32880=) c.79723C= (p.Arg26575=) c.79522C= (p.Arg26508=) c.79147C= (p.Arg26383=) c.106342C= (p.Arg35448=) c.101419C= (p.Arg33807=) n.446+6637G= n.220-5459G= c.105439C= (p.Arg35147=) c.79333C= (p.Arg26445=) c.79192C= (p.Arg26398=) c.105235C= (p.Arg35079=) c.100633C= (p.Arg33545=) c.100630C= (p.Arg33544=) c.97672C= (p.Arg32558=) c.79288C= (p.Arg26430=) c.100783C= (p.Arg33595=) c.100780C= (p.Arg33594=) c.100213C= (p.Arg33405=) c.97555C= (p.Arg32519=) c.97474C= (p.Arg32492=) c.79237C= (p.Arg26413=) c.69091C= (p.Arg23031=) | |
2 | g.178530273G>T | CA430235051 | TTN,TTN-AS1 | c.98638C>A (p.Arg32880=) c.79723C>A (p.Arg26575=) c.79522C>A (p.Arg26508=) c.79147C>A (p.Arg26383=) c.106342C>A (p.Arg35448=) c.101419C>A (p.Arg33807=) n.446+6637G>T n.220-5459G>T c.105439C>A (p.Arg35147=) c.79333C>A (p.Arg26445=) c.79192C>A (p.Arg26398=) c.105235C>A (p.Arg35079=) c.100633C>A (p.Arg33545=) c.100630C>A (p.Arg33544=) c.97672C>A (p.Arg32558=) c.79288C>A (p.Arg26430=) c.100783C>A (p.Arg33595=) c.100780C>A (p.Arg33594=) c.100213C>A (p.Arg33405=) c.97555C>A (p.Arg32519=) c.97474C>A (p.Arg32492=) c.79237C>A (p.Arg26413=) c.69091C>A (p.Arg23031=) | |
2 | g.178530274G>A | CA430235053 | TTN,TTN-AS1 | c.98637C>T (p.Pro32879=) c.79722C>T (p.Pro26574=) c.79521C>T (p.Pro26507=) c.79146C>T (p.Pro26382=) c.106341C>T (p.Pro35447=) c.101418C>T (p.Pro33806=) n.446+6638G>A n.220-5458G>A c.105438C>T (p.Pro35146=) c.79332C>T (p.Pro26444=) c.79191C>T (p.Pro26397=) c.105234C>T (p.Pro35078=) c.100632C>T (p.Pro33544=) c.100629C>T (p.Pro33543=) c.97671C>T (p.Pro32557=) c.79287C>T (p.Pro26429=) c.100782C>T (p.Pro33594=) c.100779C>T (p.Pro33593=) c.100212C>T (p.Pro33404=) c.97554C>T (p.Pro32518=) c.97473C>T (p.Pro32491=) c.79236C>T (p.Pro26412=) c.69090C>T (p.Pro23030=) | |
2 | g.178530274G>C | CA430235054 | TTN,TTN-AS1 | c.98637C>G (p.Pro32879=) c.79722C>G (p.Pro26574=) c.79521C>G (p.Pro26507=) c.79146C>G (p.Pro26382=) c.106341C>G (p.Pro35447=) c.101418C>G (p.Pro33806=) n.446+6638G>C n.220-5458G>C c.105438C>G (p.Pro35146=) c.79332C>G (p.Pro26444=) c.79191C>G (p.Pro26397=) c.105234C>G (p.Pro35078=) c.100632C>G (p.Pro33544=) c.100629C>G (p.Pro33543=) c.97671C>G (p.Pro32557=) c.79287C>G (p.Pro26429=) c.100782C>G (p.Pro33594=) c.100779C>G (p.Pro33593=) c.100212C>G (p.Pro33404=) c.97554C>G (p.Pro32518=) c.97473C>G (p.Pro32491=) c.79236C>G (p.Pro26412=) c.69090C>G (p.Pro23030=) | |
2 | g.178530274G>T | CA430235055 | TTN,TTN-AS1 | c.98637C>A (p.Pro32879=) c.79722C>A (p.Pro26574=) c.79521C>A (p.Pro26507=) c.79146C>A (p.Pro26382=) c.106341C>A (p.Pro35447=) c.101418C>A (p.Pro33806=) n.446+6638G>T n.220-5458G>T c.105438C>A (p.Pro35146=) c.79332C>A (p.Pro26444=) c.79191C>A (p.Pro26397=) c.105234C>A (p.Pro35078=) c.100632C>A (p.Pro33544=) c.100629C>A (p.Pro33543=) c.97671C>A (p.Pro32557=) c.79287C>A (p.Pro26429=) c.100782C>A (p.Pro33594=) c.100779C>A (p.Pro33593=) c.100212C>A (p.Pro33404=) c.97554C>A (p.Pro32518=) c.97473C>A (p.Pro32491=) c.79236C>A (p.Pro26412=) c.69090C>A (p.Pro23030=) | gnomAD v4 |
2 | g.178530275G>A | CA349405993 | TTN,TTN-AS1 | c.98636C>T (p.Pro32879Leu) c.79721C>T (p.Pro26574Leu) c.79520C>T (p.Pro26507Leu) c.79145C>T (p.Pro26382Leu) c.106340C>T (p.Pro35447Leu) c.101417C>T (p.Pro33806Leu) n.446+6639G>A n.220-5457G>A c.105437C>T (p.Pro35146Leu) c.79331C>T (p.Pro26444Leu) c.79190C>T (p.Pro26397Leu) c.105233C>T (p.Pro35078Leu) c.100631C>T (p.Pro33544Leu) c.100628C>T (p.Pro33543Leu) c.97670C>T (p.Pro32557Leu) c.79286C>T (p.Pro26429Leu) c.100781C>T (p.Pro33594Leu) c.100778C>T (p.Pro33593Leu) c.100211C>T (p.Pro33404Leu) c.97553C>T (p.Pro32518Leu) c.97472C>T (p.Pro32491Leu) c.79235C>T (p.Pro26412Leu) c.69089C>T (p.Pro23030Leu) | |
2 | g.178530275G>C | CA349405998 | TTN,TTN-AS1 | c.98636C>G (p.Pro32879Arg) c.79721C>G (p.Pro26574Arg) c.79520C>G (p.Pro26507Arg) c.79145C>G (p.Pro26382Arg) c.106340C>G (p.Pro35447Arg) c.101417C>G (p.Pro33806Arg) n.446+6639G>C n.220-5457G>C c.105437C>G (p.Pro35146Arg) c.79331C>G (p.Pro26444Arg) c.79190C>G (p.Pro26397Arg) c.105233C>G (p.Pro35078Arg) c.100631C>G (p.Pro33544Arg) c.100628C>G (p.Pro33543Arg) c.97670C>G (p.Pro32557Arg) c.79286C>G (p.Pro26429Arg) c.100781C>G (p.Pro33594Arg) c.100778C>G (p.Pro33593Arg) c.100211C>G (p.Pro33404Arg) c.97553C>G (p.Pro32518Arg) c.97472C>G (p.Pro32491Arg) c.79235C>G (p.Pro26412Arg) c.69089C>G (p.Pro23030Arg) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530275G>T | CA349405996 | TTN,TTN-AS1 | c.98636C>A (p.Pro32879His) c.79721C>A (p.Pro26574His) c.79520C>A (p.Pro26507His) c.79145C>A (p.Pro26382His) c.106340C>A (p.Pro35447His) c.101417C>A (p.Pro33806His) n.446+6639G>T n.220-5457G>T c.105437C>A (p.Pro35146His) c.79331C>A (p.Pro26444His) c.79190C>A (p.Pro26397His) c.105233C>A (p.Pro35078His) c.100631C>A (p.Pro33544His) c.100628C>A (p.Pro33543His) c.97670C>A (p.Pro32557His) c.79286C>A (p.Pro26429His) c.100781C>A (p.Pro33594His) c.100778C>A (p.Pro33593His) c.100211C>A (p.Pro33404His) c.97553C>A (p.Pro32518His) c.97472C>A (p.Pro32491His) c.79235C>A (p.Pro26412His) c.69089C>A (p.Pro23030His) | dbSNP |
2 | g.178530276G>A | CA349406001 | TTN,TTN-AS1 | c.98635C>T (p.Pro32879Ser) c.79720C>T (p.Pro26574Ser) c.79519C>T (p.Pro26507Ser) c.79144C>T (p.Pro26382Ser) c.106339C>T (p.Pro35447Ser) c.101416C>T (p.Pro33806Ser) n.446+6640G>A n.220-5456G>A c.105436C>T (p.Pro35146Ser) c.79330C>T (p.Pro26444Ser) c.79189C>T (p.Pro26397Ser) c.105232C>T (p.Pro35078Ser) c.100630C>T (p.Pro33544Ser) c.100627C>T (p.Pro33543Ser) c.97669C>T (p.Pro32557Ser) c.79285C>T (p.Pro26429Ser) c.100780C>T (p.Pro33594Ser) c.100777C>T (p.Pro33593Ser) c.100210C>T (p.Pro33404Ser) c.97552C>T (p.Pro32518Ser) c.97471C>T (p.Pro32491Ser) c.79234C>T (p.Pro26412Ser) c.69088C>T (p.Pro23030Ser) | gnomAD v4 |
2 | g.178530276G>C | CA349406006 | TTN,TTN-AS1 | c.98635C>G (p.Pro32879Ala) c.79720C>G (p.Pro26574Ala) c.79519C>G (p.Pro26507Ala) c.79144C>G (p.Pro26382Ala) c.106339C>G (p.Pro35447Ala) c.101416C>G (p.Pro33806Ala) n.446+6640G>C n.220-5456G>C c.105436C>G (p.Pro35146Ala) c.79330C>G (p.Pro26444Ala) c.79189C>G (p.Pro26397Ala) c.105232C>G (p.Pro35078Ala) c.100630C>G (p.Pro33544Ala) c.100627C>G (p.Pro33543Ala) c.97669C>G (p.Pro32557Ala) c.79285C>G (p.Pro26429Ala) c.100780C>G (p.Pro33594Ala) c.100777C>G (p.Pro33593Ala) c.100210C>G (p.Pro33404Ala) c.97552C>G (p.Pro32518Ala) c.97471C>G (p.Pro32491Ala) c.79234C>G (p.Pro26412Ala) c.69088C>G (p.Pro23030Ala) | |
2 | g.178530276G>T | CA349406003 | TTN,TTN-AS1 | c.98635C>A (p.Pro32879Thr) c.79720C>A (p.Pro26574Thr) c.79519C>A (p.Pro26507Thr) c.79144C>A (p.Pro26382Thr) c.106339C>A (p.Pro35447Thr) c.101416C>A (p.Pro33806Thr) n.446+6640G>T n.220-5456G>T c.105436C>A (p.Pro35146Thr) c.79330C>A (p.Pro26444Thr) c.79189C>A (p.Pro26397Thr) c.105232C>A (p.Pro35078Thr) c.100630C>A (p.Pro33544Thr) c.100627C>A (p.Pro33543Thr) c.97669C>A (p.Pro32557Thr) c.79285C>A (p.Pro26429Thr) c.100780C>A (p.Pro33594Thr) c.100777C>A (p.Pro33593Thr) c.100210C>A (p.Pro33404Thr) c.97552C>A (p.Pro32518Thr) c.97471C>A (p.Pro32491Thr) c.79234C>A (p.Pro26412Thr) c.69088C>A (p.Pro23030Thr) | |
2 | g.178530277T>A | CA349406008 | TTN,TTN-AS1 | c.98634A>T (p.Glu32878Asp) c.79719A>T (p.Glu26573Asp) c.79518A>T (p.Glu26506Asp) c.79143A>T (p.Glu26381Asp) c.106338A>T (p.Glu35446Asp) c.101415A>T (p.Glu33805Asp) n.446+6641T>A n.220-5455T>A c.105435A>T (p.Glu35145Asp) c.79329A>T (p.Glu26443Asp) c.79188A>T (p.Glu26396Asp) c.105231A>T (p.Glu35077Asp) c.100629A>T (p.Glu33543Asp) c.100626A>T (p.Glu33542Asp) c.97668A>T (p.Glu32556Asp) c.79284A>T (p.Glu26428Asp) c.100779A>T (p.Glu33593Asp) c.100776A>T (p.Glu33592Asp) c.100209A>T (p.Glu33403Asp) c.97551A>T (p.Glu32517Asp) c.97470A>T (p.Glu32490Asp) c.79233A>T (p.Glu26411Asp) c.69087A>T (p.Glu23029Asp) | |
2 | g.178530277T>C | CA430235059 | TTN,TTN-AS1 | c.98634A>G (p.Glu32878=) c.79719A>G (p.Glu26573=) c.79518A>G (p.Glu26506=) c.79143A>G (p.Glu26381=) c.106338A>G (p.Glu35446=) c.101415A>G (p.Glu33805=) n.446+6641T>C n.220-5455T>C c.105435A>G (p.Glu35145=) c.79329A>G (p.Glu26443=) c.79188A>G (p.Glu26396=) c.105231A>G (p.Glu35077=) c.100629A>G (p.Glu33543=) c.100626A>G (p.Glu33542=) c.97668A>G (p.Glu32556=) c.79284A>G (p.Glu26428=) c.100779A>G (p.Glu33593=) c.100776A>G (p.Glu33592=) c.100209A>G (p.Glu33403=) c.97551A>G (p.Glu32517=) c.97470A>G (p.Glu32490=) c.79233A>G (p.Glu26411=) c.69087A>G (p.Glu23029=) | |
2 | g.178530277T>G | CA349406010 | TTN,TTN-AS1 | c.98634A>C (p.Glu32878Asp) c.79719A>C (p.Glu26573Asp) c.79518A>C (p.Glu26506Asp) c.79143A>C (p.Glu26381Asp) c.106338A>C (p.Glu35446Asp) c.101415A>C (p.Glu33805Asp) n.446+6641T>G n.220-5455T>G c.105435A>C (p.Glu35145Asp) c.79329A>C (p.Glu26443Asp) c.79188A>C (p.Glu26396Asp) c.105231A>C (p.Glu35077Asp) c.100629A>C (p.Glu33543Asp) c.100626A>C (p.Glu33542Asp) c.97668A>C (p.Glu32556Asp) c.79284A>C (p.Glu26428Asp) c.100779A>C (p.Glu33593Asp) c.100776A>C (p.Glu33592Asp) c.100209A>C (p.Glu33403Asp) c.97551A>C (p.Glu32517Asp) c.97470A>C (p.Glu32490Asp) c.79233A>C (p.Glu26411Asp) c.69087A>C (p.Glu23029Asp) | |
2 | g.178530278T>A | CA349406013 | TTN,TTN-AS1 | c.98633A>T (p.Glu32878Val) c.79718A>T (p.Glu26573Val) c.79517A>T (p.Glu26506Val) c.79142A>T (p.Glu26381Val) c.106337A>T (p.Glu35446Val) c.101414A>T (p.Glu33805Val) n.446+6642T>A n.220-5454T>A c.105434A>T (p.Glu35145Val) c.79328A>T (p.Glu26443Val) c.79187A>T (p.Glu26396Val) c.105230A>T (p.Glu35077Val) c.100628A>T (p.Glu33543Val) c.100625A>T (p.Glu33542Val) c.97667A>T (p.Glu32556Val) c.79283A>T (p.Glu26428Val) c.100778A>T (p.Glu33593Val) c.100775A>T (p.Glu33592Val) c.100208A>T (p.Glu33403Val) c.97550A>T (p.Glu32517Val) c.97469A>T (p.Glu32490Val) c.79232A>T (p.Glu26411Val) c.69086A>T (p.Glu23029Val) | |
2 | g.178530278T>C | CA349406017 | TTN,TTN-AS1 | c.98633A>G (p.Glu32878Gly) c.79718A>G (p.Glu26573Gly) c.79517A>G (p.Glu26506Gly) c.79142A>G (p.Glu26381Gly) c.106337A>G (p.Glu35446Gly) c.101414A>G (p.Glu33805Gly) n.446+6642T>C n.220-5454T>C c.105434A>G (p.Glu35145Gly) c.79328A>G (p.Glu26443Gly) c.79187A>G (p.Glu26396Gly) c.105230A>G (p.Glu35077Gly) c.100628A>G (p.Glu33543Gly) c.100625A>G (p.Glu33542Gly) c.97667A>G (p.Glu32556Gly) c.79283A>G (p.Glu26428Gly) c.100778A>G (p.Glu33593Gly) c.100775A>G (p.Glu33592Gly) c.100208A>G (p.Glu33403Gly) c.97550A>G (p.Glu32517Gly) c.97469A>G (p.Glu32490Gly) c.79232A>G (p.Glu26411Gly) c.69086A>G (p.Glu23029Gly) | |
2 | g.178530278T>G | CA349406015 | TTN,TTN-AS1 | c.98633A>C (p.Glu32878Ala) c.79718A>C (p.Glu26573Ala) c.79517A>C (p.Glu26506Ala) c.79142A>C (p.Glu26381Ala) c.106337A>C (p.Glu35446Ala) c.101414A>C (p.Glu33805Ala) n.446+6642T>G n.220-5454T>G c.105434A>C (p.Glu35145Ala) c.79328A>C (p.Glu26443Ala) c.79187A>C (p.Glu26396Ala) c.105230A>C (p.Glu35077Ala) c.100628A>C (p.Glu33543Ala) c.100625A>C (p.Glu33542Ala) c.97667A>C (p.Glu32556Ala) c.79283A>C (p.Glu26428Ala) c.100778A>C (p.Glu33593Ala) c.100775A>C (p.Glu33592Ala) c.100208A>C (p.Glu33403Ala) c.97550A>C (p.Glu32517Ala) c.97469A>C (p.Glu32490Ala) c.79232A>C (p.Glu26411Ala) c.69086A>C (p.Glu23029Ala) | |
2 | g.178530279C>A | CA349406020 | TTN,TTN-AS1 | c.98632G>T (p.Glu32878Ter) c.79717G>T (p.Glu26573Ter) c.79516G>T (p.Glu26506Ter) c.79141G>T (p.Glu26381Ter) c.106336G>T (p.Glu35446Ter) c.101413G>T (p.Glu33805Ter) n.446+6643C>A n.220-5453C>A c.105433G>T (p.Glu35145Ter) c.79327G>T (p.Glu26443Ter) c.79186G>T (p.Glu26396Ter) c.105229G>T (p.Glu35077Ter) c.100627G>T (p.Glu33543Ter) c.100624G>T (p.Glu33542Ter) c.97666G>T (p.Glu32556Ter) c.79282G>T (p.Glu26428Ter) c.100777G>T (p.Glu33593Ter) c.100774G>T (p.Glu33592Ter) c.100207G>T (p.Glu33403Ter) c.97549G>T (p.Glu32517Ter) c.97468G>T (p.Glu32490Ter) c.79231G>T (p.Glu26411Ter) c.69085G>T (p.Glu23029Ter) | |
2 | g.178530279C>G | CA349406023 | TTN,TTN-AS1 | c.98632G>C (p.Glu32878Gln) c.79717G>C (p.Glu26573Gln) c.79516G>C (p.Glu26506Gln) c.79141G>C (p.Glu26381Gln) c.106336G>C (p.Glu35446Gln) c.101413G>C (p.Glu33805Gln) n.446+6643C>G n.220-5453C>G c.105433G>C (p.Glu35145Gln) c.79327G>C (p.Glu26443Gln) c.79186G>C (p.Glu26396Gln) c.105229G>C (p.Glu35077Gln) c.100627G>C (p.Glu33543Gln) c.100624G>C (p.Glu33542Gln) c.97666G>C (p.Glu32556Gln) c.79282G>C (p.Glu26428Gln) c.100777G>C (p.Glu33593Gln) c.100774G>C (p.Glu33592Gln) c.100207G>C (p.Glu33403Gln) c.97549G>C (p.Glu32517Gln) c.97468G>C (p.Glu32490Gln) c.79231G>C (p.Glu26411Gln) c.69085G>C (p.Glu23029Gln) | |
2 | g.178530279C>T | CA349406022 | TTN,TTN-AS1 | c.98632G>A (p.Glu32878Lys) c.79717G>A (p.Glu26573Lys) c.79516G>A (p.Glu26506Lys) c.79141G>A (p.Glu26381Lys) c.106336G>A (p.Glu35446Lys) c.101413G>A (p.Glu33805Lys) n.446+6643C>T n.220-5453C>T c.105433G>A (p.Glu35145Lys) c.79327G>A (p.Glu26443Lys) c.79186G>A (p.Glu26396Lys) c.105229G>A (p.Glu35077Lys) c.100627G>A (p.Glu33543Lys) c.100624G>A (p.Glu33542Lys) c.97666G>A (p.Glu32556Lys) c.79282G>A (p.Glu26428Lys) c.100777G>A (p.Glu33593Lys) c.100774G>A (p.Glu33592Lys) c.100207G>A (p.Glu33403Lys) c.97549G>A (p.Glu32517Lys) c.97468G>A (p.Glu32490Lys) c.79231G>A (p.Glu26411Lys) c.69085G>A (p.Glu23029Lys) | |
2 | g.178530280T>A | CA430235062 | TTN,TTN-AS1 | c.98631A>T (p.Gly32877=) c.79716A>T (p.Gly26572=) c.79515A>T (p.Gly26505=) c.79140A>T (p.Gly26380=) c.106335A>T (p.Gly35445=) c.101412A>T (p.Gly33804=) n.446+6644T>A n.220-5452T>A c.105432A>T (p.Gly35144=) c.79326A>T (p.Gly26442=) c.79185A>T (p.Gly26395=) c.105228A>T (p.Gly35076=) c.100626A>T (p.Gly33542=) c.100623A>T (p.Gly33541=) c.97665A>T (p.Gly32555=) c.79281A>T (p.Gly26427=) c.100776A>T (p.Gly33592=) c.100773A>T (p.Gly33591=) c.100206A>T (p.Gly33402=) c.97548A>T (p.Gly32516=) c.97467A>T (p.Gly32489=) c.79230A>T (p.Gly26410=) c.69084A>T (p.Gly23028=) | |
2 | g.178530280T>C | CA430235064 | TTN,TTN-AS1 | c.98631A>G (p.Gly32877=) c.79716A>G (p.Gly26572=) c.79515A>G (p.Gly26505=) c.79140A>G (p.Gly26380=) c.106335A>G (p.Gly35445=) c.101412A>G (p.Gly33804=) n.446+6644T>C n.220-5452T>C c.105432A>G (p.Gly35144=) c.79326A>G (p.Gly26442=) c.79185A>G (p.Gly26395=) c.105228A>G (p.Gly35076=) c.100626A>G (p.Gly33542=) c.100623A>G (p.Gly33541=) c.97665A>G (p.Gly32555=) c.79281A>G (p.Gly26427=) c.100776A>G (p.Gly33592=) c.100773A>G (p.Gly33591=) c.100206A>G (p.Gly33402=) c.97548A>G (p.Gly32516=) c.97467A>G (p.Gly32489=) c.79230A>G (p.Gly26410=) c.69084A>G (p.Gly23028=) | |
2 | g.178530280T>G | CA430235065 | TTN,TTN-AS1 | c.98631A>C (p.Gly32877=) c.79716A>C (p.Gly26572=) c.79515A>C (p.Gly26505=) c.79140A>C (p.Gly26380=) c.106335A>C (p.Gly35445=) c.101412A>C (p.Gly33804=) n.446+6644T>G n.220-5452T>G c.105432A>C (p.Gly35144=) c.79326A>C (p.Gly26442=) c.79185A>C (p.Gly26395=) c.105228A>C (p.Gly35076=) c.100626A>C (p.Gly33542=) c.100623A>C (p.Gly33541=) c.97665A>C (p.Gly32555=) c.79281A>C (p.Gly26427=) c.100776A>C (p.Gly33592=) c.100773A>C (p.Gly33591=) c.100206A>C (p.Gly33402=) c.97548A>C (p.Gly32516=) c.97467A>C (p.Gly32489=) c.79230A>C (p.Gly26410=) c.69084A>C (p.Gly23028=) | |
2 | g.178530281C>A | CA349406024 | TTN,TTN-AS1 | c.98630G>T (p.Gly32877Val) c.79715G>T (p.Gly26572Val) c.79514G>T (p.Gly26505Val) c.79139G>T (p.Gly26380Val) c.106334G>T (p.Gly35445Val) c.101411G>T (p.Gly33804Val) n.446+6645C>A n.220-5451C>A c.105431G>T (p.Gly35144Val) c.79325G>T (p.Gly26442Val) c.79184G>T (p.Gly26395Val) c.105227G>T (p.Gly35076Val) c.100625G>T (p.Gly33542Val) c.100622G>T (p.Gly33541Val) c.97664G>T (p.Gly32555Val) c.79280G>T (p.Gly26427Val) c.100775G>T (p.Gly33592Val) c.100772G>T (p.Gly33591Val) c.100205G>T (p.Gly33402Val) c.97547G>T (p.Gly32516Val) c.97466G>T (p.Gly32489Val) c.79229G>T (p.Gly26410Val) c.69083G>T (p.Gly23028Val) | |
2 | g.178530281C>G | CA349406027 | TTN,TTN-AS1 | c.98630G>C (p.Gly32877Ala) c.79715G>C (p.Gly26572Ala) c.79514G>C (p.Gly26505Ala) c.79139G>C (p.Gly26380Ala) c.106334G>C (p.Gly35445Ala) c.101411G>C (p.Gly33804Ala) n.446+6645C>G n.220-5451C>G c.105431G>C (p.Gly35144Ala) c.79325G>C (p.Gly26442Ala) c.79184G>C (p.Gly26395Ala) c.105227G>C (p.Gly35076Ala) c.100625G>C (p.Gly33542Ala) c.100622G>C (p.Gly33541Ala) c.97664G>C (p.Gly32555Ala) c.79280G>C (p.Gly26427Ala) c.100775G>C (p.Gly33592Ala) c.100772G>C (p.Gly33591Ala) c.100205G>C (p.Gly33402Ala) c.97547G>C (p.Gly32516Ala) c.97466G>C (p.Gly32489Ala) c.79229G>C (p.Gly26410Ala) c.69083G>C (p.Gly23028Ala) | |
2 | g.178530281C>T | CA349406026 | TTN,TTN-AS1 | c.98630G>A (p.Gly32877Glu) c.79715G>A (p.Gly26572Glu) c.79514G>A (p.Gly26505Glu) c.79139G>A (p.Gly26380Glu) c.106334G>A (p.Gly35445Glu) c.101411G>A (p.Gly33804Glu) n.446+6645C>T n.220-5451C>T c.105431G>A (p.Gly35144Glu) c.79325G>A (p.Gly26442Glu) c.79184G>A (p.Gly26395Glu) c.105227G>A (p.Gly35076Glu) c.100625G>A (p.Gly33542Glu) c.100622G>A (p.Gly33541Glu) c.97664G>A (p.Gly32555Glu) c.79280G>A (p.Gly26427Glu) c.100775G>A (p.Gly33592Glu) c.100772G>A (p.Gly33591Glu) c.100205G>A (p.Gly33402Glu) c.97547G>A (p.Gly32516Glu) c.97466G>A (p.Gly32489Glu) c.79229G>A (p.Gly26410Glu) c.69083G>A (p.Gly23028Glu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530282C>A | CA349406030 | TTN,TTN-AS1 | c.98629G>T (p.Gly32877Ter) c.79714G>T (p.Gly26572Ter) c.79513G>T (p.Gly26505Ter) c.79138G>T (p.Gly26380Ter) c.106333G>T (p.Gly35445Ter) c.101410G>T (p.Gly33804Ter) n.446+6646C>A n.220-5450C>A c.105430G>T (p.Gly35144Ter) c.79324G>T (p.Gly26442Ter) c.79183G>T (p.Gly26395Ter) c.105226G>T (p.Gly35076Ter) c.100624G>T (p.Gly33542Ter) c.100621G>T (p.Gly33541Ter) c.97663G>T (p.Gly32555Ter) c.79279G>T (p.Gly26427Ter) c.100774G>T (p.Gly33592Ter) c.100771G>T (p.Gly33591Ter) c.100204G>T (p.Gly33402Ter) c.97546G>T (p.Gly32516Ter) c.97465G>T (p.Gly32489Ter) c.79228G>T (p.Gly26410Ter) c.69082G>T (p.Gly23028Ter) | |
2 | g.178530282C>G | CA349406034 | TTN,TTN-AS1 | c.98629G>C (p.Gly32877Arg) c.79714G>C (p.Gly26572Arg) c.79513G>C (p.Gly26505Arg) c.79138G>C (p.Gly26380Arg) c.106333G>C (p.Gly35445Arg) c.101410G>C (p.Gly33804Arg) n.446+6646C>G n.220-5450C>G c.105430G>C (p.Gly35144Arg) c.79324G>C (p.Gly26442Arg) c.79183G>C (p.Gly26395Arg) c.105226G>C (p.Gly35076Arg) c.100624G>C (p.Gly33542Arg) c.100621G>C (p.Gly33541Arg) c.97663G>C (p.Gly32555Arg) c.79279G>C (p.Gly26427Arg) c.100774G>C (p.Gly33592Arg) c.100771G>C (p.Gly33591Arg) c.100204G>C (p.Gly33402Arg) c.97546G>C (p.Gly32516Arg) c.97465G>C (p.Gly32489Arg) c.79228G>C (p.Gly26410Arg) c.69082G>C (p.Gly23028Arg) | |
2 | g.178530282C>T | CA349406032 | TTN,TTN-AS1 | c.98629G>A (p.Gly32877Arg) c.79714G>A (p.Gly26572Arg) c.79513G>A (p.Gly26505Arg) c.79138G>A (p.Gly26380Arg) c.106333G>A (p.Gly35445Arg) c.101410G>A (p.Gly33804Arg) n.446+6646C>T n.220-5450C>T c.105430G>A (p.Gly35144Arg) c.79324G>A (p.Gly26442Arg) c.79183G>A (p.Gly26395Arg) c.105226G>A (p.Gly35076Arg) c.100624G>A (p.Gly33542Arg) c.100621G>A (p.Gly33541Arg) c.97663G>A (p.Gly32555Arg) c.79279G>A (p.Gly26427Arg) c.100774G>A (p.Gly33592Arg) c.100771G>A (p.Gly33591Arg) c.100204G>A (p.Gly33402Arg) c.97546G>A (p.Gly32516Arg) c.97465G>A (p.Gly32489Arg) c.79228G>A (p.Gly26410Arg) c.69082G>A (p.Gly23028Arg) | |
2 | g.178530283A>C | CA430235067 | TTN,TTN-AS1 | c.98628T>G (p.Thr32876=) c.79713T>G (p.Thr26571=) c.79512T>G (p.Thr26504=) c.79137T>G (p.Thr26379=) c.106332T>G (p.Thr35444=) c.101409T>G (p.Thr33803=) n.446+6647A>C n.220-5449A>C c.105429T>G (p.Thr35143=) c.79323T>G (p.Thr26441=) c.79182T>G (p.Thr26394=) c.105225T>G (p.Thr35075=) c.100623T>G (p.Thr33541=) c.100620T>G (p.Thr33540=) c.97662T>G (p.Thr32554=) c.79278T>G (p.Thr26426=) c.100773T>G (p.Thr33591=) c.100770T>G (p.Thr33590=) c.100203T>G (p.Thr33401=) c.97545T>G (p.Thr32515=) c.97464T>G (p.Thr32488=) c.79227T>G (p.Thr26409=) c.69081T>G (p.Thr23027=) | gnomAD v4 |
2 | g.178530283A>G | CA430235068 | TTN,TTN-AS1 | c.98628T>C (p.Thr32876=) c.79713T>C (p.Thr26571=) c.79512T>C (p.Thr26504=) c.79137T>C (p.Thr26379=) c.106332T>C (p.Thr35444=) c.101409T>C (p.Thr33803=) n.446+6647A>G n.220-5449A>G c.105429T>C (p.Thr35143=) c.79323T>C (p.Thr26441=) c.79182T>C (p.Thr26394=) c.105225T>C (p.Thr35075=) c.100623T>C (p.Thr33541=) c.100620T>C (p.Thr33540=) c.97662T>C (p.Thr32554=) c.79278T>C (p.Thr26426=) c.100773T>C (p.Thr33591=) c.100770T>C (p.Thr33590=) c.100203T>C (p.Thr33401=) c.97545T>C (p.Thr32515=) c.97464T>C (p.Thr32488=) c.79227T>C (p.Thr26409=) c.69081T>C (p.Thr23027=) | dbSNP gnomAD v4 |
2 | g.178530283A>T | CA430235069 | TTN,TTN-AS1 | c.98628T>A (p.Thr32876=) c.79713T>A (p.Thr26571=) c.79512T>A (p.Thr26504=) c.79137T>A (p.Thr26379=) c.106332T>A (p.Thr35444=) c.101409T>A (p.Thr33803=) n.446+6647A>T n.220-5449A>T c.105429T>A (p.Thr35143=) c.79323T>A (p.Thr26441=) c.79182T>A (p.Thr26394=) c.105225T>A (p.Thr35075=) c.100623T>A (p.Thr33541=) c.100620T>A (p.Thr33540=) c.97662T>A (p.Thr32554=) c.79278T>A (p.Thr26426=) c.100773T>A (p.Thr33591=) c.100770T>A (p.Thr33590=) c.100203T>A (p.Thr33401=) c.97545T>A (p.Thr32515=) c.97464T>A (p.Thr32488=) c.79227T>A (p.Thr26409=) c.69081T>A (p.Thr23027=) | gnomAD v4 |
2 | g.178530283_178530284dup | CA2586970733 | TTN,TTN-AS1 | c.98627_98628dup (p.Gly32877LeufsTer?) c.79712_79713dup (p.Gly26572LeufsTer?) c.79511_79512dup (p.Gly26505LeufsTer?) c.79136_79137dup (p.Gly26380LeufsTer?) c.106331_106332dup (p.Gly35445LeufsTer?) c.101408_101409dup (p.Gly33804LeufsTer?) n.446+6647_446+6648dup n.220-5449_220-5448dup c.105428_105429dup (p.Gly35144LeufsTer?) c.79322_79323dup (p.Gly26442LeufsTer?) c.79181_79182dup (p.Gly26395LeufsTer?) c.105224_105225dup (p.Gly35076LeufsTer?) c.100622_100623dup (p.Gly33542LeufsTer?) c.100619_100620dup (p.Gly33541LeufsTer?) c.97661_97662dup (p.Gly32555LeufsTer?) c.79277_79278dup (p.Gly26427LeufsTer?) c.100772_100773dup (p.Gly33592LeufsTer?) c.100769_100770dup (p.Gly33591LeufsTer?) c.100202_100203dup (p.Gly33402LeufsTer?) c.97544_97545dup (p.Gly32516LeufsTer?) c.97463_97464dup (p.Gly32489LeufsTer?) c.79226_79227dup (p.Gly26410LeufsTer?) c.69080_69081dup (p.Gly23028LeufsTer?) | |
2 | g.178530284G>A | CA349406037 | TTN,TTN-AS1 | c.98627C>T (p.Thr32876Ile) c.79712C>T (p.Thr26571Ile) c.79511C>T (p.Thr26504Ile) c.79136C>T (p.Thr26379Ile) c.106331C>T (p.Thr35444Ile) c.101408C>T (p.Thr33803Ile) n.446+6648G>A n.220-5448G>A c.105428C>T (p.Thr35143Ile) c.79322C>T (p.Thr26441Ile) c.79181C>T (p.Thr26394Ile) c.105224C>T (p.Thr35075Ile) c.100622C>T (p.Thr33541Ile) c.100619C>T (p.Thr33540Ile) c.97661C>T (p.Thr32554Ile) c.79277C>T (p.Thr26426Ile) c.100772C>T (p.Thr33591Ile) c.100769C>T (p.Thr33590Ile) c.100202C>T (p.Thr33401Ile) c.97544C>T (p.Thr32515Ile) c.97463C>T (p.Thr32488Ile) c.79226C>T (p.Thr26409Ile) c.69080C>T (p.Thr23027Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530284G>C | CA349406040 | TTN,TTN-AS1 | c.98627C>G (p.Thr32876Ser) c.79712C>G (p.Thr26571Ser) c.79511C>G (p.Thr26504Ser) c.79136C>G (p.Thr26379Ser) c.106331C>G (p.Thr35444Ser) c.101408C>G (p.Thr33803Ser) n.446+6648G>C n.220-5448G>C c.105428C>G (p.Thr35143Ser) c.79322C>G (p.Thr26441Ser) c.79181C>G (p.Thr26394Ser) c.105224C>G (p.Thr35075Ser) c.100622C>G (p.Thr33541Ser) c.100619C>G (p.Thr33540Ser) c.97661C>G (p.Thr32554Ser) c.79277C>G (p.Thr26426Ser) c.100772C>G (p.Thr33591Ser) c.100769C>G (p.Thr33590Ser) c.100202C>G (p.Thr33401Ser) c.97544C>G (p.Thr32515Ser) c.97463C>G (p.Thr32488Ser) c.79226C>G (p.Thr26409Ser) c.69080C>G (p.Thr23027Ser) | |
2 | g.178530284G= | CA1310511715 | TTN,TTN-AS1 | c.98627C= (p.Thr32876=) c.79712C= (p.Thr26571=) c.79511C= (p.Thr26504=) c.79136C= (p.Thr26379=) c.106331C= (p.Thr35444=) c.101408C= (p.Thr33803=) n.446+6648G= n.220-5448G= c.105428C= (p.Thr35143=) c.79322C= (p.Thr26441=) c.79181C= (p.Thr26394=) c.105224C= (p.Thr35075=) c.100622C= (p.Thr33541=) c.100619C= (p.Thr33540=) c.97661C= (p.Thr32554=) c.79277C= (p.Thr26426=) c.100772C= (p.Thr33591=) c.100769C= (p.Thr33590=) c.100202C= (p.Thr33401=) c.97544C= (p.Thr32515=) c.97463C= (p.Thr32488=) c.79226C= (p.Thr26409=) c.69080C= (p.Thr23027=) | |
2 | g.178530284G>T | CA349406042 | TTN,TTN-AS1 | c.98627C>A (p.Thr32876Asn) c.79712C>A (p.Thr26571Asn) c.79511C>A (p.Thr26504Asn) c.79136C>A (p.Thr26379Asn) c.106331C>A (p.Thr35444Asn) c.101408C>A (p.Thr33803Asn) n.446+6648G>T n.220-5448G>T c.105428C>A (p.Thr35143Asn) c.79322C>A (p.Thr26441Asn) c.79181C>A (p.Thr26394Asn) c.105224C>A (p.Thr35075Asn) c.100622C>A (p.Thr33541Asn) c.100619C>A (p.Thr33540Asn) c.97661C>A (p.Thr32554Asn) c.79277C>A (p.Thr26426Asn) c.100772C>A (p.Thr33591Asn) c.100769C>A (p.Thr33590Asn) c.100202C>A (p.Thr33401Asn) c.97544C>A (p.Thr32515Asn) c.97463C>A (p.Thr32488Asn) c.79226C>A (p.Thr26409Asn) c.69080C>A (p.Thr23027Asn) | |
2 | g.178530285T>A | CA349406045 | TTN,TTN-AS1 | c.98626A>T (p.Thr32876Ser) c.79711A>T (p.Thr26571Ser) c.79510A>T (p.Thr26504Ser) c.79135A>T (p.Thr26379Ser) c.106330A>T (p.Thr35444Ser) c.101407A>T (p.Thr33803Ser) n.446+6649T>A n.220-5447T>A c.105427A>T (p.Thr35143Ser) c.79321A>T (p.Thr26441Ser) c.79180A>T (p.Thr26394Ser) c.105223A>T (p.Thr35075Ser) c.100621A>T (p.Thr33541Ser) c.100618A>T (p.Thr33540Ser) c.97660A>T (p.Thr32554Ser) c.79276A>T (p.Thr26426Ser) c.100771A>T (p.Thr33591Ser) c.100768A>T (p.Thr33590Ser) c.100201A>T (p.Thr33401Ser) c.97543A>T (p.Thr32515Ser) c.97462A>T (p.Thr32488Ser) c.79225A>T (p.Thr26409Ser) c.69079A>T (p.Thr23027Ser) | ClinVar dbSNP |
2 | g.178530285T>C | CA349406047 | TTN,TTN-AS1 | c.98626A>G (p.Thr32876Ala) c.79711A>G (p.Thr26571Ala) c.79510A>G (p.Thr26504Ala) c.79135A>G (p.Thr26379Ala) c.106330A>G (p.Thr35444Ala) c.101407A>G (p.Thr33803Ala) n.446+6649T>C n.220-5447T>C c.105427A>G (p.Thr35143Ala) c.79321A>G (p.Thr26441Ala) c.79180A>G (p.Thr26394Ala) c.105223A>G (p.Thr35075Ala) c.100621A>G (p.Thr33541Ala) c.100618A>G (p.Thr33540Ala) c.97660A>G (p.Thr32554Ala) c.79276A>G (p.Thr26426Ala) c.100771A>G (p.Thr33591Ala) c.100768A>G (p.Thr33590Ala) c.100201A>G (p.Thr33401Ala) c.97543A>G (p.Thr32515Ala) c.97462A>G (p.Thr32488Ala) c.79225A>G (p.Thr26409Ala) c.69079A>G (p.Thr23027Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.178530285T>G | CA349406050 | TTN,TTN-AS1 | c.98626A>C (p.Thr32876Pro) c.79711A>C (p.Thr26571Pro) c.79510A>C (p.Thr26504Pro) c.79135A>C (p.Thr26379Pro) c.106330A>C (p.Thr35444Pro) c.101407A>C (p.Thr33803Pro) n.446+6649T>G n.220-5447T>G c.105427A>C (p.Thr35143Pro) c.79321A>C (p.Thr26441Pro) c.79180A>C (p.Thr26394Pro) c.105223A>C (p.Thr35075Pro) c.100621A>C (p.Thr33541Pro) c.100618A>C (p.Thr33540Pro) c.97660A>C (p.Thr32554Pro) c.79276A>C (p.Thr26426Pro) c.100771A>C (p.Thr33591Pro) c.100768A>C (p.Thr33590Pro) c.100201A>C (p.Thr33401Pro) c.97543A>C (p.Thr32515Pro) c.97462A>C (p.Thr32488Pro) c.79225A>C (p.Thr26409Pro) c.69079A>C (p.Thr23027Pro) | gnomAD v4 |
2 | g.178530285T= | CA1310511717 | TTN,TTN-AS1 | c.98626A= (p.Thr32876=) c.79711A= (p.Thr26571=) c.79510A= (p.Thr26504=) c.79135A= (p.Thr26379=) c.106330A= (p.Thr35444=) c.101407A= (p.Thr33803=) n.446+6649T= n.220-5447T= c.105427A= (p.Thr35143=) c.79321A= (p.Thr26441=) c.79180A= (p.Thr26394=) c.105223A= (p.Thr35075=) c.100621A= (p.Thr33541=) c.100618A= (p.Thr33540=) c.97660A= (p.Thr32554=) c.79276A= (p.Thr26426=) c.100771A= (p.Thr33591=) c.100768A= (p.Thr33590=) c.100201A= (p.Thr33401=) c.97543A= (p.Thr32515=) c.97462A= (p.Thr32488=) c.79225A= (p.Thr26409=) c.69079A= (p.Thr23027=) | |
2 | g.178530286A>C | CA430235072 | TTN,TTN-AS1 | c.98625T>G (p.Ala32875=) c.79710T>G (p.Ala26570=) c.79509T>G (p.Ala26503=) c.79134T>G (p.Ala26378=) c.106329T>G (p.Ala35443=) c.101406T>G (p.Ala33802=) n.446+6650A>C n.220-5446A>C c.105426T>G (p.Ala35142=) c.79320T>G (p.Ala26440=) c.79179T>G (p.Ala26393=) c.105222T>G (p.Ala35074=) c.100620T>G (p.Ala33540=) c.100617T>G (p.Ala33539=) c.97659T>G (p.Ala32553=) c.79275T>G (p.Ala26425=) c.100770T>G (p.Ala33590=) c.100767T>G (p.Ala33589=) c.100200T>G (p.Ala33400=) c.97542T>G (p.Ala32514=) c.97461T>G (p.Ala32487=) c.79224T>G (p.Ala26408=) c.69078T>G (p.Ala23026=) | |
2 | g.178530286A>G | CA430235073 | TTN,TTN-AS1 | c.98625T>C (p.Ala32875=) c.79710T>C (p.Ala26570=) c.79509T>C (p.Ala26503=) c.79134T>C (p.Ala26378=) c.106329T>C (p.Ala35443=) c.101406T>C (p.Ala33802=) n.446+6650A>G n.220-5446A>G c.105426T>C (p.Ala35142=) c.79320T>C (p.Ala26440=) c.79179T>C (p.Ala26393=) c.105222T>C (p.Ala35074=) c.100620T>C (p.Ala33540=) c.100617T>C (p.Ala33539=) c.97659T>C (p.Ala32553=) c.79275T>C (p.Ala26425=) c.100770T>C (p.Ala33590=) c.100767T>C (p.Ala33589=) c.100200T>C (p.Ala33400=) c.97542T>C (p.Ala32514=) c.97461T>C (p.Ala32487=) c.79224T>C (p.Ala26408=) c.69078T>C (p.Ala23026=) | |
2 | g.178530286A>T | CA430235074 | TTN,TTN-AS1 | c.98625T>A (p.Ala32875=) c.79710T>A (p.Ala26570=) c.79509T>A (p.Ala26503=) c.79134T>A (p.Ala26378=) c.106329T>A (p.Ala35443=) c.101406T>A (p.Ala33802=) n.446+6650A>T n.220-5446A>T c.105426T>A (p.Ala35142=) c.79320T>A (p.Ala26440=) c.79179T>A (p.Ala26393=) c.105222T>A (p.Ala35074=) c.100620T>A (p.Ala33540=) c.100617T>A (p.Ala33539=) c.97659T>A (p.Ala32553=) c.79275T>A (p.Ala26425=) c.100770T>A (p.Ala33590=) c.100767T>A (p.Ala33589=) c.100200T>A (p.Ala33400=) c.97542T>A (p.Ala32514=) c.97461T>A (p.Ala32487=) c.79224T>A (p.Ala26408=) c.69078T>A (p.Ala23026=) | |
2 | g.178530287G>A | CA349406053 | TTN,TTN-AS1 | c.98624C>T (p.Ala32875Val) c.79709C>T (p.Ala26570Val) c.79508C>T (p.Ala26503Val) c.79133C>T (p.Ala26378Val) c.106328C>T (p.Ala35443Val) c.101405C>T (p.Ala33802Val) n.446+6651G>A n.220-5445G>A c.105425C>T (p.Ala35142Val) c.79319C>T (p.Ala26440Val) c.79178C>T (p.Ala26393Val) c.105221C>T (p.Ala35074Val) c.100619C>T (p.Ala33540Val) c.100616C>T (p.Ala33539Val) c.97658C>T (p.Ala32553Val) c.79274C>T (p.Ala26425Val) c.100769C>T (p.Ala33590Val) c.100766C>T (p.Ala33589Val) c.100199C>T (p.Ala33400Val) c.97541C>T (p.Ala32514Val) c.97460C>T (p.Ala32487Val) c.79223C>T (p.Ala26408Val) c.69077C>T (p.Ala23026Val) | |
2 | g.178530287G>C | CA349406055 | TTN,TTN-AS1 | c.98624C>G (p.Ala32875Gly) c.79709C>G (p.Ala26570Gly) c.79508C>G (p.Ala26503Gly) c.79133C>G (p.Ala26378Gly) c.106328C>G (p.Ala35443Gly) c.101405C>G (p.Ala33802Gly) n.446+6651G>C n.220-5445G>C c.105425C>G (p.Ala35142Gly) c.79319C>G (p.Ala26440Gly) c.79178C>G (p.Ala26393Gly) c.105221C>G (p.Ala35074Gly) c.100619C>G (p.Ala33540Gly) c.100616C>G (p.Ala33539Gly) c.97658C>G (p.Ala32553Gly) c.79274C>G (p.Ala26425Gly) c.100769C>G (p.Ala33590Gly) c.100766C>G (p.Ala33589Gly) c.100199C>G (p.Ala33400Gly) c.97541C>G (p.Ala32514Gly) c.97460C>G (p.Ala32487Gly) c.79223C>G (p.Ala26408Gly) c.69077C>G (p.Ala23026Gly) | gnomAD v4 |
2 | g.178530287G>T | CA349406057 | TTN,TTN-AS1 | c.98624C>A (p.Ala32875Asp) c.79709C>A (p.Ala26570Asp) c.79508C>A (p.Ala26503Asp) c.79133C>A (p.Ala26378Asp) c.106328C>A (p.Ala35443Asp) c.101405C>A (p.Ala33802Asp) n.446+6651G>T n.220-5445G>T c.105425C>A (p.Ala35142Asp) c.79319C>A (p.Ala26440Asp) c.79178C>A (p.Ala26393Asp) c.105221C>A (p.Ala35074Asp) c.100619C>A (p.Ala33540Asp) c.100616C>A (p.Ala33539Asp) c.97658C>A (p.Ala32553Asp) c.79274C>A (p.Ala26425Asp) c.100769C>A (p.Ala33590Asp) c.100766C>A (p.Ala33589Asp) c.100199C>A (p.Ala33400Asp) c.97541C>A (p.Ala32514Asp) c.97460C>A (p.Ala32487Asp) c.79223C>A (p.Ala26408Asp) c.69077C>A (p.Ala23026Asp) | |
2 | g.178530288C>A | CA349406067 | TTN,TTN-AS1 | c.98623G>T (p.Ala32875Ser) c.79708G>T (p.Ala26570Ser) c.79507G>T (p.Ala26503Ser) c.79132G>T (p.Ala26378Ser) c.106327G>T (p.Ala35443Ser) c.101404G>T (p.Ala33802Ser) n.446+6652C>A n.220-5444C>A c.105424G>T (p.Ala35142Ser) c.79318G>T (p.Ala26440Ser) c.79177G>T (p.Ala26393Ser) c.105220G>T (p.Ala35074Ser) c.100618G>T (p.Ala33540Ser) c.100615G>T (p.Ala33539Ser) c.97657G>T (p.Ala32553Ser) c.79273G>T (p.Ala26425Ser) c.100768G>T (p.Ala33590Ser) c.100765G>T (p.Ala33589Ser) c.100198G>T (p.Ala33400Ser) c.97540G>T (p.Ala32514Ser) c.97459G>T (p.Ala32487Ser) c.79222G>T (p.Ala26408Ser) c.69076G>T (p.Ala23026Ser) | |
2 | g.178530288C= | CA1310511725 | TTN,TTN-AS1 | c.98623G= (p.Ala32875=) c.79708G= (p.Ala26570=) c.79507G= (p.Ala26503=) c.79132G= (p.Ala26378=) c.106327G= (p.Ala35443=) c.101404G= (p.Ala33802=) n.446+6652C= n.220-5444C= c.105424G= (p.Ala35142=) c.79318G= (p.Ala26440=) c.79177G= (p.Ala26393=) c.105220G= (p.Ala35074=) c.100618G= (p.Ala33540=) c.100615G= (p.Ala33539=) c.97657G= (p.Ala32553=) c.79273G= (p.Ala26425=) c.100768G= (p.Ala33590=) c.100765G= (p.Ala33589=) c.100198G= (p.Ala33400=) c.97540G= (p.Ala32514=) c.97459G= (p.Ala32487=) c.79222G= (p.Ala26408=) c.69076G= (p.Ala23026=) | |
2 | g.178530288C>G | CA349406063 | TTN,TTN-AS1 | c.98623G>C (p.Ala32875Pro) c.79708G>C (p.Ala26570Pro) c.79507G>C (p.Ala26503Pro) c.79132G>C (p.Ala26378Pro) c.106327G>C (p.Ala35443Pro) c.101404G>C (p.Ala33802Pro) n.446+6652C>G n.220-5444C>G c.105424G>C (p.Ala35142Pro) c.79318G>C (p.Ala26440Pro) c.79177G>C (p.Ala26393Pro) c.105220G>C (p.Ala35074Pro) c.100618G>C (p.Ala33540Pro) c.100615G>C (p.Ala33539Pro) c.97657G>C (p.Ala32553Pro) c.79273G>C (p.Ala26425Pro) c.100768G>C (p.Ala33590Pro) c.100765G>C (p.Ala33589Pro) c.100198G>C (p.Ala33400Pro) c.97540G>C (p.Ala32514Pro) c.97459G>C (p.Ala32487Pro) c.79222G>C (p.Ala26408Pro) c.69076G>C (p.Ala23026Pro) | |
2 | g.178530288C>T | CA349406061 | TTN,TTN-AS1 | c.98623G>A (p.Ala32875Thr) c.79708G>A (p.Ala26570Thr) c.79507G>A (p.Ala26503Thr) c.79132G>A (p.Ala26378Thr) c.106327G>A (p.Ala35443Thr) c.101404G>A (p.Ala33802Thr) n.446+6652C>T n.220-5444C>T c.105424G>A (p.Ala35142Thr) c.79318G>A (p.Ala26440Thr) c.79177G>A (p.Ala26393Thr) c.105220G>A (p.Ala35074Thr) c.100618G>A (p.Ala33540Thr) c.100615G>A (p.Ala33539Thr) c.97657G>A (p.Ala32553Thr) c.79273G>A (p.Ala26425Thr) c.100768G>A (p.Ala33590Thr) c.100765G>A (p.Ala33589Thr) c.100198G>A (p.Ala33400Thr) c.97540G>A (p.Ala32514Thr) c.97459G>A (p.Ala32487Thr) c.79222G>A (p.Ala26408Thr) c.69076G>A (p.Ala23026Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530289C>A | CA349406070 | TTN,TTN-AS1 | c.98622G>T (p.Lys32874Asn) c.79707G>T (p.Lys26569Asn) c.79506G>T (p.Lys26502Asn) c.79131G>T (p.Lys26377Asn) c.106326G>T (p.Lys35442Asn) c.101403G>T (p.Lys33801Asn) n.446+6653C>A n.220-5443C>A c.105423G>T (p.Lys35141Asn) c.79317G>T (p.Lys26439Asn) c.79176G>T (p.Lys26392Asn) c.105219G>T (p.Lys35073Asn) c.100617G>T (p.Lys33539Asn) c.100614G>T (p.Lys33538Asn) c.97656G>T (p.Lys32552Asn) c.79272G>T (p.Lys26424Asn) c.100767G>T (p.Lys33589Asn) c.100764G>T (p.Lys33588Asn) c.100197G>T (p.Lys33399Asn) c.97539G>T (p.Lys32513Asn) c.97458G>T (p.Lys32486Asn) c.79221G>T (p.Lys26407Asn) c.69075G>T (p.Lys23025Asn) | |
2 | g.178530289C= | CA1310511727 | TTN,TTN-AS1 | c.98622G= (p.Lys32874=) c.79707G= (p.Lys26569=) c.79506G= (p.Lys26502=) c.79131G= (p.Lys26377=) c.106326G= (p.Lys35442=) c.101403G= (p.Lys33801=) n.446+6653C= n.220-5443C= c.105423G= (p.Lys35141=) c.79317G= (p.Lys26439=) c.79176G= (p.Lys26392=) c.105219G= (p.Lys35073=) c.100617G= (p.Lys33539=) c.100614G= (p.Lys33538=) c.97656G= (p.Lys32552=) c.79272G= (p.Lys26424=) c.100767G= (p.Lys33589=) c.100764G= (p.Lys33588=) c.100197G= (p.Lys33399=) c.97539G= (p.Lys32513=) c.97458G= (p.Lys32486=) c.79221G= (p.Lys26407=) c.69075G= (p.Lys23025=) | |
2 | g.178530289C>G | CA349406071 | TTN,TTN-AS1 | c.98622G>C (p.Lys32874Asn) c.79707G>C (p.Lys26569Asn) c.79506G>C (p.Lys26502Asn) c.79131G>C (p.Lys26377Asn) c.106326G>C (p.Lys35442Asn) c.101403G>C (p.Lys33801Asn) n.446+6653C>G n.220-5443C>G c.105423G>C (p.Lys35141Asn) c.79317G>C (p.Lys26439Asn) c.79176G>C (p.Lys26392Asn) c.105219G>C (p.Lys35073Asn) c.100617G>C (p.Lys33539Asn) c.100614G>C (p.Lys33538Asn) c.97656G>C (p.Lys32552Asn) c.79272G>C (p.Lys26424Asn) c.100767G>C (p.Lys33589Asn) c.100764G>C (p.Lys33588Asn) c.100197G>C (p.Lys33399Asn) c.97539G>C (p.Lys32513Asn) c.97458G>C (p.Lys32486Asn) c.79221G>C (p.Lys26407Asn) c.69075G>C (p.Lys23025Asn) | |
2 | g.178530289C>T | CA430235079 | TTN,TTN-AS1 | c.98622G>A (p.Lys32874=) c.79707G>A (p.Lys26569=) c.79506G>A (p.Lys26502=) c.79131G>A (p.Lys26377=) c.106326G>A (p.Lys35442=) c.101403G>A (p.Lys33801=) n.446+6653C>T n.220-5443C>T c.105423G>A (p.Lys35141=) c.79317G>A (p.Lys26439=) c.79176G>A (p.Lys26392=) c.105219G>A (p.Lys35073=) c.100617G>A (p.Lys33539=) c.100614G>A (p.Lys33538=) c.97656G>A (p.Lys32552=) c.79272G>A (p.Lys26424=) c.100767G>A (p.Lys33589=) c.100764G>A (p.Lys33588=) c.100197G>A (p.Lys33399=) c.97539G>A (p.Lys32513=) c.97458G>A (p.Lys32486=) c.79221G>A (p.Lys26407=) c.69075G>A (p.Lys23025=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530290T>A | CA349406073 | TTN,TTN-AS1 | c.98621A>T (p.Lys32874Met) c.79706A>T (p.Lys26569Met) c.79505A>T (p.Lys26502Met) c.79130A>T (p.Lys26377Met) c.106325A>T (p.Lys35442Met) c.101402A>T (p.Lys33801Met) n.446+6654T>A n.220-5442T>A c.105422A>T (p.Lys35141Met) c.79316A>T (p.Lys26439Met) c.79175A>T (p.Lys26392Met) c.105218A>T (p.Lys35073Met) c.100616A>T (p.Lys33539Met) c.100613A>T (p.Lys33538Met) c.97655A>T (p.Lys32552Met) c.79271A>T (p.Lys26424Met) c.100766A>T (p.Lys33589Met) c.100763A>T (p.Lys33588Met) c.100196A>T (p.Lys33399Met) c.97538A>T (p.Lys32513Met) c.97457A>T (p.Lys32486Met) c.79220A>T (p.Lys26407Met) c.69074A>T (p.Lys23025Met) | |
2 | g.178530290T>C | CA349406075 | TTN,TTN-AS1 | c.98621A>G (p.Lys32874Arg) c.79706A>G (p.Lys26569Arg) c.79505A>G (p.Lys26502Arg) c.79130A>G (p.Lys26377Arg) c.106325A>G (p.Lys35442Arg) c.101402A>G (p.Lys33801Arg) n.446+6654T>C n.220-5442T>C c.105422A>G (p.Lys35141Arg) c.79316A>G (p.Lys26439Arg) c.79175A>G (p.Lys26392Arg) c.105218A>G (p.Lys35073Arg) c.100616A>G (p.Lys33539Arg) c.100613A>G (p.Lys33538Arg) c.97655A>G (p.Lys32552Arg) c.79271A>G (p.Lys26424Arg) c.100766A>G (p.Lys33589Arg) c.100763A>G (p.Lys33588Arg) c.100196A>G (p.Lys33399Arg) c.97538A>G (p.Lys32513Arg) c.97457A>G (p.Lys32486Arg) c.79220A>G (p.Lys26407Arg) c.69074A>G (p.Lys23025Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.178530290T>G | CA349406078 | TTN,TTN-AS1 | c.98621A>C (p.Lys32874Thr) c.79706A>C (p.Lys26569Thr) c.79505A>C (p.Lys26502Thr) c.79130A>C (p.Lys26377Thr) c.106325A>C (p.Lys35442Thr) c.101402A>C (p.Lys33801Thr) n.446+6654T>G n.220-5442T>G c.105422A>C (p.Lys35141Thr) c.79316A>C (p.Lys26439Thr) c.79175A>C (p.Lys26392Thr) c.105218A>C (p.Lys35073Thr) c.100616A>C (p.Lys33539Thr) c.100613A>C (p.Lys33538Thr) c.97655A>C (p.Lys32552Thr) c.79271A>C (p.Lys26424Thr) c.100766A>C (p.Lys33589Thr) c.100763A>C (p.Lys33588Thr) c.100196A>C (p.Lys33399Thr) c.97538A>C (p.Lys32513Thr) c.97457A>C (p.Lys32486Thr) c.79220A>C (p.Lys26407Thr) c.69074A>C (p.Lys23025Thr) | |
2 | g.178530290T= | CA1310511731 | TTN,TTN-AS1 | c.98621A= (p.Lys32874=) c.79706A= (p.Lys26569=) c.79505A= (p.Lys26502=) c.79130A= (p.Lys26377=) c.106325A= (p.Lys35442=) c.101402A= (p.Lys33801=) n.446+6654T= n.220-5442T= c.105422A= (p.Lys35141=) c.79316A= (p.Lys26439=) c.79175A= (p.Lys26392=) c.105218A= (p.Lys35073=) c.100616A= (p.Lys33539=) c.100613A= (p.Lys33538=) c.97655A= (p.Lys32552=) c.79271A= (p.Lys26424=) c.100766A= (p.Lys33589=) c.100763A= (p.Lys33588=) c.100196A= (p.Lys33399=) c.97538A= (p.Lys32513=) c.97457A= (p.Lys32486=) c.79220A= (p.Lys26407=) c.69074A= (p.Lys23025=) | |
2 | g.178530291T>A | CA349406092 | TTN,TTN-AS1 | c.98620A>T (p.Lys32874Ter) c.79705A>T (p.Lys26569Ter) c.79504A>T (p.Lys26502Ter) c.79129A>T (p.Lys26377Ter) c.106324A>T (p.Lys35442Ter) c.101401A>T (p.Lys33801Ter) n.446+6655T>A n.220-5441T>A c.105421A>T (p.Lys35141Ter) c.79315A>T (p.Lys26439Ter) c.79174A>T (p.Lys26392Ter) c.105217A>T (p.Lys35073Ter) c.100615A>T (p.Lys33539Ter) c.100612A>T (p.Lys33538Ter) c.97654A>T (p.Lys32552Ter) c.79270A>T (p.Lys26424Ter) c.100765A>T (p.Lys33589Ter) c.100762A>T (p.Lys33588Ter) c.100195A>T (p.Lys33399Ter) c.97537A>T (p.Lys32513Ter) c.97456A>T (p.Lys32486Ter) c.79219A>T (p.Lys26407Ter) c.69073A>T (p.Lys23025Ter) | |
2 | g.178530291T>C | CA349406095 | TTN,TTN-AS1 | c.98620A>G (p.Lys32874Glu) c.79705A>G (p.Lys26569Glu) c.79504A>G (p.Lys26502Glu) c.79129A>G (p.Lys26377Glu) c.106324A>G (p.Lys35442Glu) c.101401A>G (p.Lys33801Glu) n.446+6655T>C n.220-5441T>C c.105421A>G (p.Lys35141Glu) c.79315A>G (p.Lys26439Glu) c.79174A>G (p.Lys26392Glu) c.105217A>G (p.Lys35073Glu) c.100615A>G (p.Lys33539Glu) c.100612A>G (p.Lys33538Glu) c.97654A>G (p.Lys32552Glu) c.79270A>G (p.Lys26424Glu) c.100765A>G (p.Lys33589Glu) c.100762A>G (p.Lys33588Glu) c.100195A>G (p.Lys33399Glu) c.97537A>G (p.Lys32513Glu) c.97456A>G (p.Lys32486Glu) c.79219A>G (p.Lys26407Glu) c.69073A>G (p.Lys23025Glu) | gnomAD v4 |
2 | g.178530291T>G | CA349406097 | TTN,TTN-AS1 | c.98620A>C (p.Lys32874Gln) c.79705A>C (p.Lys26569Gln) c.79504A>C (p.Lys26502Gln) c.79129A>C (p.Lys26377Gln) c.106324A>C (p.Lys35442Gln) c.101401A>C (p.Lys33801Gln) n.446+6655T>G n.220-5441T>G c.105421A>C (p.Lys35141Gln) c.79315A>C (p.Lys26439Gln) c.79174A>C (p.Lys26392Gln) c.105217A>C (p.Lys35073Gln) c.100615A>C (p.Lys33539Gln) c.100612A>C (p.Lys33538Gln) c.97654A>C (p.Lys32552Gln) c.79270A>C (p.Lys26424Gln) c.100765A>C (p.Lys33589Gln) c.100762A>C (p.Lys33588Gln) c.100195A>C (p.Lys33399Gln) c.97537A>C (p.Lys32513Gln) c.97456A>C (p.Lys32486Gln) c.79219A>C (p.Lys26407Gln) c.69073A>C (p.Lys23025Gln) | |
2 | g.178530292A>C | CA430235081 | TTN,TTN-AS1 | c.98619T>G (p.Val32873=) c.79704T>G (p.Val26568=) c.79503T>G (p.Val26501=) c.79128T>G (p.Val26376=) c.106323T>G (p.Val35441=) c.101400T>G (p.Val33800=) n.446+6656A>C n.220-5440A>C c.105420T>G (p.Val35140=) c.79314T>G (p.Val26438=) c.79173T>G (p.Val26391=) c.105216T>G (p.Val35072=) c.100614T>G (p.Val33538=) c.100611T>G (p.Val33537=) c.97653T>G (p.Val32551=) c.79269T>G (p.Val26423=) c.100764T>G (p.Val33588=) c.100761T>G (p.Val33587=) c.100194T>G (p.Val33398=) c.97536T>G (p.Val32512=) c.97455T>G (p.Val32485=) c.79218T>G (p.Val26406=) c.69072T>G (p.Val23024=) | |
2 | g.178530292A>G | CA430235082 | TTN,TTN-AS1 | c.98619T>C (p.Val32873=) c.79704T>C (p.Val26568=) c.79503T>C (p.Val26501=) c.79128T>C (p.Val26376=) c.106323T>C (p.Val35441=) c.101400T>C (p.Val33800=) n.446+6656A>G n.220-5440A>G c.105420T>C (p.Val35140=) c.79314T>C (p.Val26438=) c.79173T>C (p.Val26391=) c.105216T>C (p.Val35072=) c.100614T>C (p.Val33538=) c.100611T>C (p.Val33537=) c.97653T>C (p.Val32551=) c.79269T>C (p.Val26423=) c.100764T>C (p.Val33588=) c.100761T>C (p.Val33587=) c.100194T>C (p.Val33398=) c.97536T>C (p.Val32512=) c.97455T>C (p.Val32485=) c.79218T>C (p.Val26406=) c.69072T>C (p.Val23024=) | gnomAD v4 |
2 | g.178530292A>T | CA430235083 | TTN,TTN-AS1 | c.98619T>A (p.Val32873=) c.79704T>A (p.Val26568=) c.79503T>A (p.Val26501=) c.79128T>A (p.Val26376=) c.106323T>A (p.Val35441=) c.101400T>A (p.Val33800=) n.446+6656A>T n.220-5440A>T c.105420T>A (p.Val35140=) c.79314T>A (p.Val26438=) c.79173T>A (p.Val26391=) c.105216T>A (p.Val35072=) c.100614T>A (p.Val33538=) c.100611T>A (p.Val33537=) c.97653T>A (p.Val32551=) c.79269T>A (p.Val26423=) c.100764T>A (p.Val33588=) c.100761T>A (p.Val33587=) c.100194T>A (p.Val33398=) c.97536T>A (p.Val32512=) c.97455T>A (p.Val32485=) c.79218T>A (p.Val26406=) c.69072T>A (p.Val23024=) | |
2 | g.178530293A>C | CA349406098 | TTN,TTN-AS1 | c.98618T>G (p.Val32873Gly) c.79703T>G (p.Val26568Gly) c.79502T>G (p.Val26501Gly) c.79127T>G (p.Val26376Gly) c.106322T>G (p.Val35441Gly) c.101399T>G (p.Val33800Gly) n.446+6657A>C n.220-5439A>C c.105419T>G (p.Val35140Gly) c.79313T>G (p.Val26438Gly) c.79172T>G (p.Val26391Gly) c.105215T>G (p.Val35072Gly) c.100613T>G (p.Val33538Gly) c.100610T>G (p.Val33537Gly) c.97652T>G (p.Val32551Gly) c.79268T>G (p.Val26423Gly) c.100763T>G (p.Val33588Gly) c.100760T>G (p.Val33587Gly) c.100193T>G (p.Val33398Gly) c.97535T>G (p.Val32512Gly) c.97454T>G (p.Val32485Gly) c.79217T>G (p.Val26406Gly) c.69071T>G (p.Val23024Gly) | |
2 | g.178530293A>G | CA349406101 | TTN,TTN-AS1 | c.98618T>C (p.Val32873Ala) c.79703T>C (p.Val26568Ala) c.79502T>C (p.Val26501Ala) c.79127T>C (p.Val26376Ala) c.106322T>C (p.Val35441Ala) c.101399T>C (p.Val33800Ala) n.446+6657A>G n.220-5439A>G c.105419T>C (p.Val35140Ala) c.79313T>C (p.Val26438Ala) c.79172T>C (p.Val26391Ala) c.105215T>C (p.Val35072Ala) c.100613T>C (p.Val33538Ala) c.100610T>C (p.Val33537Ala) c.97652T>C (p.Val32551Ala) c.79268T>C (p.Val26423Ala) c.100763T>C (p.Val33588Ala) c.100760T>C (p.Val33587Ala) c.100193T>C (p.Val33398Ala) c.97535T>C (p.Val32512Ala) c.97454T>C (p.Val32485Ala) c.79217T>C (p.Val26406Ala) c.69071T>C (p.Val23024Ala) | |
2 | g.178530293A>T | CA349406102 | TTN,TTN-AS1 | c.98618T>A (p.Val32873Asp) c.79703T>A (p.Val26568Asp) c.79502T>A (p.Val26501Asp) c.79127T>A (p.Val26376Asp) c.106322T>A (p.Val35441Asp) c.101399T>A (p.Val33800Asp) n.446+6657A>T n.220-5439A>T c.105419T>A (p.Val35140Asp) c.79313T>A (p.Val26438Asp) c.79172T>A (p.Val26391Asp) c.105215T>A (p.Val35072Asp) c.100613T>A (p.Val33538Asp) c.100610T>A (p.Val33537Asp) c.97652T>A (p.Val32551Asp) c.79268T>A (p.Val26423Asp) c.100763T>A (p.Val33588Asp) c.100760T>A (p.Val33587Asp) c.100193T>A (p.Val33398Asp) c.97535T>A (p.Val32512Asp) c.97454T>A (p.Val32485Asp) c.79217T>A (p.Val26406Asp) c.69071T>A (p.Val23024Asp) | |
2 | g.178530294C>A | CA349406109 | TTN,TTN-AS1 | c.98617G>T (p.Val32873Phe) c.79702G>T (p.Val26568Phe) c.79501G>T (p.Val26501Phe) c.79126G>T (p.Val26376Phe) c.106321G>T (p.Val35441Phe) c.101398G>T (p.Val33800Phe) n.446+6658C>A n.220-5438C>A c.105418G>T (p.Val35140Phe) c.79312G>T (p.Val26438Phe) c.79171G>T (p.Val26391Phe) c.105214G>T (p.Val35072Phe) c.100612G>T (p.Val33538Phe) c.100609G>T (p.Val33537Phe) c.97651G>T (p.Val32551Phe) c.79267G>T (p.Val26423Phe) c.100762G>T (p.Val33588Phe) c.100759G>T (p.Val33587Phe) c.100192G>T (p.Val33398Phe) c.97534G>T (p.Val32512Phe) c.97453G>T (p.Val32485Phe) c.79216G>T (p.Val26406Phe) c.69070G>T (p.Val23024Phe) | gnomAD v4 |
2 | g.178530294C>G | CA349406110 | TTN,TTN-AS1 | c.98617G>C (p.Val32873Leu) c.79702G>C (p.Val26568Leu) c.79501G>C (p.Val26501Leu) c.79126G>C (p.Val26376Leu) c.106321G>C (p.Val35441Leu) c.101398G>C (p.Val33800Leu) n.446+6658C>G n.220-5438C>G c.105418G>C (p.Val35140Leu) c.79312G>C (p.Val26438Leu) c.79171G>C (p.Val26391Leu) c.105214G>C (p.Val35072Leu) c.100612G>C (p.Val33538Leu) c.100609G>C (p.Val33537Leu) c.97651G>C (p.Val32551Leu) c.79267G>C (p.Val26423Leu) c.100762G>C (p.Val33588Leu) c.100759G>C (p.Val33587Leu) c.100192G>C (p.Val33398Leu) c.97534G>C (p.Val32512Leu) c.97453G>C (p.Val32485Leu) c.79216G>C (p.Val26406Leu) c.69070G>C (p.Val23024Leu) | |
2 | g.178530294C>T | CA349406106 | TTN,TTN-AS1 | c.98617G>A (p.Val32873Ile) c.79702G>A (p.Val26568Ile) c.79501G>A (p.Val26501Ile) c.79126G>A (p.Val26376Ile) c.106321G>A (p.Val35441Ile) c.101398G>A (p.Val33800Ile) n.446+6658C>T n.220-5438C>T c.105418G>A (p.Val35140Ile) c.79312G>A (p.Val26438Ile) c.79171G>A (p.Val26391Ile) c.105214G>A (p.Val35072Ile) c.100612G>A (p.Val33538Ile) c.100609G>A (p.Val33537Ile) c.97651G>A (p.Val32551Ile) c.79267G>A (p.Val26423Ile) c.100762G>A (p.Val33588Ile) c.100759G>A (p.Val33587Ile) c.100192G>A (p.Val33398Ile) c.97534G>A (p.Val32512Ile) c.97453G>A (p.Val32485Ile) c.79216G>A (p.Val26406Ile) c.69070G>A (p.Val23024Ile) | dbSNP |
2 | g.178530295T>A | CA430235086 | TTN,TTN-AS1 | c.98616A>T (p.Ala32872=) c.79701A>T (p.Ala26567=) c.79500A>T (p.Ala26500=) c.79125A>T (p.Ala26375=) c.106320A>T (p.Ala35440=) c.101397A>T (p.Ala33799=) n.446+6659T>A n.220-5437T>A c.105417A>T (p.Ala35139=) c.79311A>T (p.Ala26437=) c.79170A>T (p.Ala26390=) c.105213A>T (p.Ala35071=) c.100611A>T (p.Ala33537=) c.100608A>T (p.Ala33536=) c.97650A>T (p.Ala32550=) c.79266A>T (p.Ala26422=) c.100761A>T (p.Ala33587=) c.100758A>T (p.Ala33586=) c.100191A>T (p.Ala33397=) c.97533A>T (p.Ala32511=) c.97452A>T (p.Ala32484=) c.79215A>T (p.Ala26405=) c.69069A>T (p.Ala23023=) | |
2 | g.178530295T>C | CA430235087 | TTN,TTN-AS1 | c.98616A>G (p.Ala32872=) c.79701A>G (p.Ala26567=) c.79500A>G (p.Ala26500=) c.79125A>G (p.Ala26375=) c.106320A>G (p.Ala35440=) c.101397A>G (p.Ala33799=) n.446+6659T>C n.220-5437T>C c.105417A>G (p.Ala35139=) c.79311A>G (p.Ala26437=) c.79170A>G (p.Ala26390=) c.105213A>G (p.Ala35071=) c.100611A>G (p.Ala33537=) c.100608A>G (p.Ala33536=) c.97650A>G (p.Ala32550=) c.79266A>G (p.Ala26422=) c.100761A>G (p.Ala33587=) c.100758A>G (p.Ala33586=) c.100191A>G (p.Ala33397=) c.97533A>G (p.Ala32511=) c.97452A>G (p.Ala32484=) c.79215A>G (p.Ala26405=) c.69069A>G (p.Ala23023=) | |
2 | g.178530295T>G | CA430235088 | TTN,TTN-AS1 | c.98616A>C (p.Ala32872=) c.79701A>C (p.Ala26567=) c.79500A>C (p.Ala26500=) c.79125A>C (p.Ala26375=) c.106320A>C (p.Ala35440=) c.101397A>C (p.Ala33799=) n.446+6659T>G n.220-5437T>G c.105417A>C (p.Ala35139=) c.79311A>C (p.Ala26437=) c.79170A>C (p.Ala26390=) c.105213A>C (p.Ala35071=) c.100611A>C (p.Ala33537=) c.100608A>C (p.Ala33536=) c.97650A>C (p.Ala32550=) c.79266A>C (p.Ala26422=) c.100761A>C (p.Ala33587=) c.100758A>C (p.Ala33586=) c.100191A>C (p.Ala33397=) c.97533A>C (p.Ala32511=) c.97452A>C (p.Ala32484=) c.79215A>C (p.Ala26405=) c.69069A>C (p.Ala23023=) | |
2 | g.178530296G>A | CA1985128 | TTN,TTN-AS1 | c.98615C>T (p.Ala32872Val) c.79700C>T (p.Ala26567Val) c.79499C>T (p.Ala26500Val) c.79124C>T (p.Ala26375Val) c.106319C>T (p.Ala35440Val) c.101396C>T (p.Ala33799Val) n.446+6660G>A n.220-5436G>A c.105416C>T (p.Ala35139Val) c.79310C>T (p.Ala26437Val) c.79169C>T (p.Ala26390Val) c.105212C>T (p.Ala35071Val) c.100610C>T (p.Ala33537Val) c.100607C>T (p.Ala33536Val) c.97649C>T (p.Ala32550Val) c.79265C>T (p.Ala26422Val) c.100760C>T (p.Ala33587Val) c.100757C>T (p.Ala33586Val) c.100190C>T (p.Ala33397Val) c.97532C>T (p.Ala32511Val) c.97451C>T (p.Ala32484Val) c.79214C>T (p.Ala26405Val) c.69068C>T (p.Ala23023Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530296G>C | CA349406117 | TTN,TTN-AS1 | c.98615C>G (p.Ala32872Gly) c.79700C>G (p.Ala26567Gly) c.79499C>G (p.Ala26500Gly) c.79124C>G (p.Ala26375Gly) c.106319C>G (p.Ala35440Gly) c.101396C>G (p.Ala33799Gly) n.446+6660G>C n.220-5436G>C c.105416C>G (p.Ala35139Gly) c.79310C>G (p.Ala26437Gly) c.79169C>G (p.Ala26390Gly) c.105212C>G (p.Ala35071Gly) c.100610C>G (p.Ala33537Gly) c.100607C>G (p.Ala33536Gly) c.97649C>G (p.Ala32550Gly) c.79265C>G (p.Ala26422Gly) c.100760C>G (p.Ala33587Gly) c.100757C>G (p.Ala33586Gly) c.100190C>G (p.Ala33397Gly) c.97532C>G (p.Ala32511Gly) c.97451C>G (p.Ala32484Gly) c.79214C>G (p.Ala26405Gly) c.69068C>G (p.Ala23023Gly) | |
2 | g.178530296G= | CA1310511734 | TTN,TTN-AS1 | c.98615C= (p.Ala32872=) c.79700C= (p.Ala26567=) c.79499C= (p.Ala26500=) c.79124C= (p.Ala26375=) c.106319C= (p.Ala35440=) c.101396C= (p.Ala33799=) n.446+6660G= n.220-5436G= c.105416C= (p.Ala35139=) c.79310C= (p.Ala26437=) c.79169C= (p.Ala26390=) c.105212C= (p.Ala35071=) c.100610C= (p.Ala33537=) c.100607C= (p.Ala33536=) c.97649C= (p.Ala32550=) c.79265C= (p.Ala26422=) c.100760C= (p.Ala33587=) c.100757C= (p.Ala33586=) c.100190C= (p.Ala33397=) c.97532C= (p.Ala32511=) c.97451C= (p.Ala32484=) c.79214C= (p.Ala26405=) c.69068C= (p.Ala23023=) | |
2 | g.178530296G>T | CA349406121 | TTN,TTN-AS1 | c.98615C>A (p.Ala32872Glu) c.79700C>A (p.Ala26567Glu) c.79499C>A (p.Ala26500Glu) c.79124C>A (p.Ala26375Glu) c.106319C>A (p.Ala35440Glu) c.101396C>A (p.Ala33799Glu) n.446+6660G>T n.220-5436G>T c.105416C>A (p.Ala35139Glu) c.79310C>A (p.Ala26437Glu) c.79169C>A (p.Ala26390Glu) c.105212C>A (p.Ala35071Glu) c.100610C>A (p.Ala33537Glu) c.100607C>A (p.Ala33536Glu) c.97649C>A (p.Ala32550Glu) c.79265C>A (p.Ala26422Glu) c.100760C>A (p.Ala33587Glu) c.100757C>A (p.Ala33586Glu) c.100190C>A (p.Ala33397Glu) c.97532C>A (p.Ala32511Glu) c.97451C>A (p.Ala32484Glu) c.79214C>A (p.Ala26405Glu) c.69068C>A (p.Ala23023Glu) | |
2 | g.178530297del | CA2662125628 | TTN,TTN-AS1 | c.98614del (p.Ala32872GlnfsTer?) c.79699del (p.Ala26567GlnfsTer?) c.79498del (p.Ala26500GlnfsTer?) c.79123del (p.Ala26375GlnfsTer?) c.106318del (p.Ala35440GlnfsTer?) c.101395del (p.Ala33799GlnfsTer?) n.446+6661del n.220-5435del c.105415del (p.Ala35139GlnfsTer?) c.79309del (p.Ala26437GlnfsTer?) c.79168del (p.Ala26390GlnfsTer?) c.105211del (p.Ala35071GlnfsTer?) c.100609del (p.Ala33537GlnfsTer?) c.100606del (p.Ala33536GlnfsTer?) c.97648del (p.Ala32550GlnfsTer?) c.79264del (p.Ala26422GlnfsTer?) c.100759del (p.Ala33587GlnfsTer?) c.100756del (p.Ala33586GlnfsTer?) c.100189del (p.Ala33397GlnfsTer?) c.97531del (p.Ala32511GlnfsTer?) c.97450del (p.Ala32484GlnfsTer?) c.79213del (p.Ala26405GlnfsTer?) c.69067del (p.Ala23023GlnfsTer?) | gnomAD v4 |
2 | g.178530297C>A | CA349406124 | TTN,TTN-AS1 | c.98614G>T (p.Ala32872Ser) c.79699G>T (p.Ala26567Ser) c.79498G>T (p.Ala26500Ser) c.79123G>T (p.Ala26375Ser) c.106318G>T (p.Ala35440Ser) c.101395G>T (p.Ala33799Ser) n.446+6661C>A n.220-5435C>A c.105415G>T (p.Ala35139Ser) c.79309G>T (p.Ala26437Ser) c.79168G>T (p.Ala26390Ser) c.105211G>T (p.Ala35071Ser) c.100609G>T (p.Ala33537Ser) c.100606G>T (p.Ala33536Ser) c.97648G>T (p.Ala32550Ser) c.79264G>T (p.Ala26422Ser) c.100759G>T (p.Ala33587Ser) c.100756G>T (p.Ala33586Ser) c.100189G>T (p.Ala33397Ser) c.97531G>T (p.Ala32511Ser) c.97450G>T (p.Ala32484Ser) c.79213G>T (p.Ala26405Ser) c.69067G>T (p.Ala23023Ser) | gnomAD v4 |
2 | g.178530297C>G | CA349406126 | TTN,TTN-AS1 | c.98614G>C (p.Ala32872Pro) c.79699G>C (p.Ala26567Pro) c.79498G>C (p.Ala26500Pro) c.79123G>C (p.Ala26375Pro) c.106318G>C (p.Ala35440Pro) c.101395G>C (p.Ala33799Pro) n.446+6661C>G n.220-5435C>G c.105415G>C (p.Ala35139Pro) c.79309G>C (p.Ala26437Pro) c.79168G>C (p.Ala26390Pro) c.105211G>C (p.Ala35071Pro) c.100609G>C (p.Ala33537Pro) c.100606G>C (p.Ala33536Pro) c.97648G>C (p.Ala32550Pro) c.79264G>C (p.Ala26422Pro) c.100759G>C (p.Ala33587Pro) c.100756G>C (p.Ala33586Pro) c.100189G>C (p.Ala33397Pro) c.97531G>C (p.Ala32511Pro) c.97450G>C (p.Ala32484Pro) c.79213G>C (p.Ala26405Pro) c.69067G>C (p.Ala23023Pro) | |
2 | g.178530297C>T | CA349406130 | TTN,TTN-AS1 | c.98614G>A (p.Ala32872Thr) c.79699G>A (p.Ala26567Thr) c.79498G>A (p.Ala26500Thr) c.79123G>A (p.Ala26375Thr) c.106318G>A (p.Ala35440Thr) c.101395G>A (p.Ala33799Thr) n.446+6661C>T n.220-5435C>T c.105415G>A (p.Ala35139Thr) c.79309G>A (p.Ala26437Thr) c.79168G>A (p.Ala26390Thr) c.105211G>A (p.Ala35071Thr) c.100609G>A (p.Ala33537Thr) c.100606G>A (p.Ala33536Thr) c.97648G>A (p.Ala32550Thr) c.79264G>A (p.Ala26422Thr) c.100759G>A (p.Ala33587Thr) c.100756G>A (p.Ala33586Thr) c.100189G>A (p.Ala33397Thr) c.97531G>A (p.Ala32511Thr) c.97450G>A (p.Ala32484Thr) c.79213G>A (p.Ala26405Thr) c.69067G>A (p.Ala23023Thr) | |
2 | g.178530298A>C | CA349406133 | TTN,TTN-AS1 | c.98613T>G (p.Phe32871Leu) c.79698T>G (p.Phe26566Leu) c.79497T>G (p.Phe26499Leu) c.79122T>G (p.Phe26374Leu) c.106317T>G (p.Phe35439Leu) c.101394T>G (p.Phe33798Leu) n.446+6662A>C n.220-5434A>C c.105414T>G (p.Phe35138Leu) c.79308T>G (p.Phe26436Leu) c.79167T>G (p.Phe26389Leu) c.105210T>G (p.Phe35070Leu) c.100608T>G (p.Phe33536Leu) c.100605T>G (p.Phe33535Leu) c.97647T>G (p.Phe32549Leu) c.79263T>G (p.Phe26421Leu) c.100758T>G (p.Phe33586Leu) c.100755T>G (p.Phe33585Leu) c.100188T>G (p.Phe33396Leu) c.97530T>G (p.Phe32510Leu) c.97449T>G (p.Phe32483Leu) c.79212T>G (p.Phe26404Leu) c.69066T>G (p.Phe23022Leu) | gnomAD v4 |
2 | g.178530298A>G | CA430235091 | TTN,TTN-AS1 | c.98613T>C (p.Phe32871=) c.79698T>C (p.Phe26566=) c.79497T>C (p.Phe26499=) c.79122T>C (p.Phe26374=) c.106317T>C (p.Phe35439=) c.101394T>C (p.Phe33798=) n.446+6662A>G n.220-5434A>G c.105414T>C (p.Phe35138=) c.79308T>C (p.Phe26436=) c.79167T>C (p.Phe26389=) c.105210T>C (p.Phe35070=) c.100608T>C (p.Phe33536=) c.100605T>C (p.Phe33535=) c.97647T>C (p.Phe32549=) c.79263T>C (p.Phe26421=) c.100758T>C (p.Phe33586=) c.100755T>C (p.Phe33585=) c.100188T>C (p.Phe33396=) c.97530T>C (p.Phe32510=) c.97449T>C (p.Phe32483=) c.79212T>C (p.Phe26404=) c.69066T>C (p.Phe23022=) | |
2 | g.178530298A>T | CA349406135 | TTN,TTN-AS1 | c.98613T>A (p.Phe32871Leu) c.79698T>A (p.Phe26566Leu) c.79497T>A (p.Phe26499Leu) c.79122T>A (p.Phe26374Leu) c.106317T>A (p.Phe35439Leu) c.101394T>A (p.Phe33798Leu) n.446+6662A>T n.220-5434A>T c.105414T>A (p.Phe35138Leu) c.79308T>A (p.Phe26436Leu) c.79167T>A (p.Phe26389Leu) c.105210T>A (p.Phe35070Leu) c.100608T>A (p.Phe33536Leu) c.100605T>A (p.Phe33535Leu) c.97647T>A (p.Phe32549Leu) c.79263T>A (p.Phe26421Leu) c.100758T>A (p.Phe33586Leu) c.100755T>A (p.Phe33585Leu) c.100188T>A (p.Phe33396Leu) c.97530T>A (p.Phe32510Leu) c.97449T>A (p.Phe32483Leu) c.79212T>A (p.Phe26404Leu) c.69066T>A (p.Phe23022Leu) | |
2 | g.178530299A= | CA1310511738 | TTN,TTN-AS1 | c.98612T= (p.Phe32871=) c.79697T= (p.Phe26566=) c.79496T= (p.Phe26499=) c.79121T= (p.Phe26374=) c.106316T= (p.Phe35439=) c.101393T= (p.Phe33798=) n.446+6663A= n.220-5433A= c.105413T= (p.Phe35138=) c.79307T= (p.Phe26436=) c.79166T= (p.Phe26389=) c.105209T= (p.Phe35070=) c.100607T= (p.Phe33536=) c.100604T= (p.Phe33535=) c.97646T= (p.Phe32549=) c.79262T= (p.Phe26421=) c.100757T= (p.Phe33586=) c.100754T= (p.Phe33585=) c.100187T= (p.Phe33396=) c.97529T= (p.Phe32510=) c.97448T= (p.Phe32483=) c.79211T= (p.Phe26404=) c.69065T= (p.Phe23022=) | |
2 | g.178530299A>C | CA60953272 | TTN,TTN-AS1 | c.98612T>G (p.Phe32871Cys) c.79697T>G (p.Phe26566Cys) c.79496T>G (p.Phe26499Cys) c.79121T>G (p.Phe26374Cys) c.106316T>G (p.Phe35439Cys) c.101393T>G (p.Phe33798Cys) n.446+6663A>C n.220-5433A>C c.105413T>G (p.Phe35138Cys) c.79307T>G (p.Phe26436Cys) c.79166T>G (p.Phe26389Cys) c.105209T>G (p.Phe35070Cys) c.100607T>G (p.Phe33536Cys) c.100604T>G (p.Phe33535Cys) c.97646T>G (p.Phe32549Cys) c.79262T>G (p.Phe26421Cys) c.100757T>G (p.Phe33586Cys) c.100754T>G (p.Phe33585Cys) c.100187T>G (p.Phe33396Cys) c.97529T>G (p.Phe32510Cys) c.97448T>G (p.Phe32483Cys) c.79211T>G (p.Phe26404Cys) c.69065T>G (p.Phe23022Cys) | dbSNP |
2 | g.178530299A>G | CA349406139 | TTN,TTN-AS1 | c.98612T>C (p.Phe32871Ser) c.79697T>C (p.Phe26566Ser) c.79496T>C (p.Phe26499Ser) c.79121T>C (p.Phe26374Ser) c.106316T>C (p.Phe35439Ser) c.101393T>C (p.Phe33798Ser) n.446+6663A>G n.220-5433A>G c.105413T>C (p.Phe35138Ser) c.79307T>C (p.Phe26436Ser) c.79166T>C (p.Phe26389Ser) c.105209T>C (p.Phe35070Ser) c.100607T>C (p.Phe33536Ser) c.100604T>C (p.Phe33535Ser) c.97646T>C (p.Phe32549Ser) c.79262T>C (p.Phe26421Ser) c.100757T>C (p.Phe33586Ser) c.100754T>C (p.Phe33585Ser) c.100187T>C (p.Phe33396Ser) c.97529T>C (p.Phe32510Ser) c.97448T>C (p.Phe32483Ser) c.79211T>C (p.Phe26404Ser) c.69065T>C (p.Phe23022Ser) | gnomAD v4 |
2 | g.178530299A>T | CA349406142 | TTN,TTN-AS1 | c.98612T>A (p.Phe32871Tyr) c.79697T>A (p.Phe26566Tyr) c.79496T>A (p.Phe26499Tyr) c.79121T>A (p.Phe26374Tyr) c.106316T>A (p.Phe35439Tyr) c.101393T>A (p.Phe33798Tyr) n.446+6663A>T n.220-5433A>T c.105413T>A (p.Phe35138Tyr) c.79307T>A (p.Phe26436Tyr) c.79166T>A (p.Phe26389Tyr) c.105209T>A (p.Phe35070Tyr) c.100607T>A (p.Phe33536Tyr) c.100604T>A (p.Phe33535Tyr) c.97646T>A (p.Phe32549Tyr) c.79262T>A (p.Phe26421Tyr) c.100757T>A (p.Phe33586Tyr) c.100754T>A (p.Phe33585Tyr) c.100187T>A (p.Phe33396Tyr) c.97529T>A (p.Phe32510Tyr) c.97448T>A (p.Phe32483Tyr) c.79211T>A (p.Phe26404Tyr) c.69065T>A (p.Phe23022Tyr) | |
2 | g.178530300A>C | CA349406148 | TTN,TTN-AS1 | c.98611T>G (p.Phe32871Val) c.79696T>G (p.Phe26566Val) c.79495T>G (p.Phe26499Val) c.79120T>G (p.Phe26374Val) c.106315T>G (p.Phe35439Val) c.101392T>G (p.Phe33798Val) n.446+6664A>C n.220-5432A>C c.105412T>G (p.Phe35138Val) c.79306T>G (p.Phe26436Val) c.79165T>G (p.Phe26389Val) c.105208T>G (p.Phe35070Val) c.100606T>G (p.Phe33536Val) c.100603T>G (p.Phe33535Val) c.97645T>G (p.Phe32549Val) c.79261T>G (p.Phe26421Val) c.100756T>G (p.Phe33586Val) c.100753T>G (p.Phe33585Val) c.100186T>G (p.Phe33396Val) c.97528T>G (p.Phe32510Val) c.97447T>G (p.Phe32483Val) c.79210T>G (p.Phe26404Val) c.69064T>G (p.Phe23022Val) | |
2 | g.178530300A>G | CA349406150 | TTN,TTN-AS1 | c.98611T>C (p.Phe32871Leu) c.79696T>C (p.Phe26566Leu) c.79495T>C (p.Phe26499Leu) c.79120T>C (p.Phe26374Leu) c.106315T>C (p.Phe35439Leu) c.101392T>C (p.Phe33798Leu) n.446+6664A>G n.220-5432A>G c.105412T>C (p.Phe35138Leu) c.79306T>C (p.Phe26436Leu) c.79165T>C (p.Phe26389Leu) c.105208T>C (p.Phe35070Leu) c.100606T>C (p.Phe33536Leu) c.100603T>C (p.Phe33535Leu) c.97645T>C (p.Phe32549Leu) c.79261T>C (p.Phe26421Leu) c.100756T>C (p.Phe33586Leu) c.100753T>C (p.Phe33585Leu) c.100186T>C (p.Phe33396Leu) c.97528T>C (p.Phe32510Leu) c.97447T>C (p.Phe32483Leu) c.79210T>C (p.Phe26404Leu) c.69064T>C (p.Phe23022Leu) | |
2 | g.178530300A>T | CA349406145 | TTN,TTN-AS1 | c.98611T>A (p.Phe32871Ile) c.79696T>A (p.Phe26566Ile) c.79495T>A (p.Phe26499Ile) c.79120T>A (p.Phe26374Ile) c.106315T>A (p.Phe35439Ile) c.101392T>A (p.Phe33798Ile) n.446+6664A>T n.220-5432A>T c.105412T>A (p.Phe35138Ile) c.79306T>A (p.Phe26436Ile) c.79165T>A (p.Phe26389Ile) c.105208T>A (p.Phe35070Ile) c.100606T>A (p.Phe33536Ile) c.100603T>A (p.Phe33535Ile) c.97645T>A (p.Phe32549Ile) c.79261T>A (p.Phe26421Ile) c.100756T>A (p.Phe33586Ile) c.100753T>A (p.Phe33585Ile) c.100186T>A (p.Phe33396Ile) c.97528T>A (p.Phe32510Ile) c.97447T>A (p.Phe32483Ile) c.79210T>A (p.Phe26404Ile) c.69064T>A (p.Phe23022Ile) | |
2 | g.178530301T>A | CA349406153 | TTN,TTN-AS1 | c.98610A>T (p.Lys32870Asn) c.79695A>T (p.Lys26565Asn) c.79494A>T (p.Lys26498Asn) c.79119A>T (p.Lys26373Asn) c.106314A>T (p.Lys35438Asn) c.101391A>T (p.Lys33797Asn) n.446+6665T>A n.220-5431T>A c.105411A>T (p.Lys35137Asn) c.79305A>T (p.Lys26435Asn) c.79164A>T (p.Lys26388Asn) c.105207A>T (p.Lys35069Asn) c.100605A>T (p.Lys33535Asn) c.100602A>T (p.Lys33534Asn) c.97644A>T (p.Lys32548Asn) c.79260A>T (p.Lys26420Asn) c.100755A>T (p.Lys33585Asn) c.100752A>T (p.Lys33584Asn) c.100185A>T (p.Lys33395Asn) c.97527A>T (p.Lys32509Asn) c.97446A>T (p.Lys32482Asn) c.79209A>T (p.Lys26403Asn) c.69063A>T (p.Lys23021Asn) | |
2 | g.178530301T>C | CA430235094 | TTN,TTN-AS1 | c.98610A>G (p.Lys32870=) c.79695A>G (p.Lys26565=) c.79494A>G (p.Lys26498=) c.79119A>G (p.Lys26373=) c.106314A>G (p.Lys35438=) c.101391A>G (p.Lys33797=) n.446+6665T>C n.220-5431T>C c.105411A>G (p.Lys35137=) c.79305A>G (p.Lys26435=) c.79164A>G (p.Lys26388=) c.105207A>G (p.Lys35069=) c.100605A>G (p.Lys33535=) c.100602A>G (p.Lys33534=) c.97644A>G (p.Lys32548=) c.79260A>G (p.Lys26420=) c.100755A>G (p.Lys33585=) c.100752A>G (p.Lys33584=) c.100185A>G (p.Lys33395=) c.97527A>G (p.Lys32509=) c.97446A>G (p.Lys32482=) c.79209A>G (p.Lys26403=) c.69063A>G (p.Lys23021=) | |
2 | g.178530301T>G | CA349406156 | TTN,TTN-AS1 | c.98610A>C (p.Lys32870Asn) c.79695A>C (p.Lys26565Asn) c.79494A>C (p.Lys26498Asn) c.79119A>C (p.Lys26373Asn) c.106314A>C (p.Lys35438Asn) c.101391A>C (p.Lys33797Asn) n.446+6665T>G n.220-5431T>G c.105411A>C (p.Lys35137Asn) c.79305A>C (p.Lys26435Asn) c.79164A>C (p.Lys26388Asn) c.105207A>C (p.Lys35069Asn) c.100605A>C (p.Lys33535Asn) c.100602A>C (p.Lys33534Asn) c.97644A>C (p.Lys32548Asn) c.79260A>C (p.Lys26420Asn) c.100755A>C (p.Lys33585Asn) c.100752A>C (p.Lys33584Asn) c.100185A>C (p.Lys33395Asn) c.97527A>C (p.Lys32509Asn) c.97446A>C (p.Lys32482Asn) c.79209A>C (p.Lys26403Asn) c.69063A>C (p.Lys23021Asn) | |
2 | g.178530302T>A | CA349406159 | TTN,TTN-AS1 | c.98609A>T (p.Lys32870Ile) c.79694A>T (p.Lys26565Ile) c.79493A>T (p.Lys26498Ile) c.79118A>T (p.Lys26373Ile) c.106313A>T (p.Lys35438Ile) c.101390A>T (p.Lys33797Ile) n.446+6666T>A n.220-5430T>A c.105410A>T (p.Lys35137Ile) c.79304A>T (p.Lys26435Ile) c.79163A>T (p.Lys26388Ile) c.105206A>T (p.Lys35069Ile) c.100604A>T (p.Lys33535Ile) c.100601A>T (p.Lys33534Ile) c.97643A>T (p.Lys32548Ile) c.79259A>T (p.Lys26420Ile) c.100754A>T (p.Lys33585Ile) c.100751A>T (p.Lys33584Ile) c.100184A>T (p.Lys33395Ile) c.97526A>T (p.Lys32509Ile) c.97445A>T (p.Lys32482Ile) c.79208A>T (p.Lys26403Ile) c.69062A>T (p.Lys23021Ile) | |
2 | g.178530302T>C | CA349406162 | TTN,TTN-AS1 | c.98609A>G (p.Lys32870Arg) c.79694A>G (p.Lys26565Arg) c.79493A>G (p.Lys26498Arg) c.79118A>G (p.Lys26373Arg) c.106313A>G (p.Lys35438Arg) c.101390A>G (p.Lys33797Arg) n.446+6666T>C n.220-5430T>C c.105410A>G (p.Lys35137Arg) c.79304A>G (p.Lys26435Arg) c.79163A>G (p.Lys26388Arg) c.105206A>G (p.Lys35069Arg) c.100604A>G (p.Lys33535Arg) c.100601A>G (p.Lys33534Arg) c.97643A>G (p.Lys32548Arg) c.79259A>G (p.Lys26420Arg) c.100754A>G (p.Lys33585Arg) c.100751A>G (p.Lys33584Arg) c.100184A>G (p.Lys33395Arg) c.97526A>G (p.Lys32509Arg) c.97445A>G (p.Lys32482Arg) c.79208A>G (p.Lys26403Arg) c.69062A>G (p.Lys23021Arg) | |
2 | g.178530302T>G | CA349406165 | TTN,TTN-AS1 | c.98609A>C (p.Lys32870Thr) c.79694A>C (p.Lys26565Thr) c.79493A>C (p.Lys26498Thr) c.79118A>C (p.Lys26373Thr) c.106313A>C (p.Lys35438Thr) c.101390A>C (p.Lys33797Thr) n.446+6666T>G n.220-5430T>G c.105410A>C (p.Lys35137Thr) c.79304A>C (p.Lys26435Thr) c.79163A>C (p.Lys26388Thr) c.105206A>C (p.Lys35069Thr) c.100604A>C (p.Lys33535Thr) c.100601A>C (p.Lys33534Thr) c.97643A>C (p.Lys32548Thr) c.79259A>C (p.Lys26420Thr) c.100754A>C (p.Lys33585Thr) c.100751A>C (p.Lys33584Thr) c.100184A>C (p.Lys33395Thr) c.97526A>C (p.Lys32509Thr) c.97445A>C (p.Lys32482Thr) c.79208A>C (p.Lys26403Thr) c.69062A>C (p.Lys23021Thr) | |
2 | g.178530303T>A | CA349406171 | TTN,TTN-AS1 | c.98608A>T (p.Lys32870Ter) c.79693A>T (p.Lys26565Ter) c.79492A>T (p.Lys26498Ter) c.79117A>T (p.Lys26373Ter) c.106312A>T (p.Lys35438Ter) c.101389A>T (p.Lys33797Ter) n.446+6667T>A n.220-5429T>A c.105409A>T (p.Lys35137Ter) c.79303A>T (p.Lys26435Ter) c.79162A>T (p.Lys26388Ter) c.105205A>T (p.Lys35069Ter) c.100603A>T (p.Lys33535Ter) c.100600A>T (p.Lys33534Ter) c.97642A>T (p.Lys32548Ter) c.79258A>T (p.Lys26420Ter) c.100753A>T (p.Lys33585Ter) c.100750A>T (p.Lys33584Ter) c.100183A>T (p.Lys33395Ter) c.97525A>T (p.Lys32509Ter) c.97444A>T (p.Lys32482Ter) c.79207A>T (p.Lys26403Ter) c.69061A>T (p.Lys23021Ter) | |
2 | g.178530303T>C | CA1985129 | TTN,TTN-AS1 | c.98608A>G (p.Lys32870Glu) c.79693A>G (p.Lys26565Glu) c.79492A>G (p.Lys26498Glu) c.79117A>G (p.Lys26373Glu) c.106312A>G (p.Lys35438Glu) c.101389A>G (p.Lys33797Glu) n.446+6667T>C n.220-5429T>C c.105409A>G (p.Lys35137Glu) c.79303A>G (p.Lys26435Glu) c.79162A>G (p.Lys26388Glu) c.105205A>G (p.Lys35069Glu) c.100603A>G (p.Lys33535Glu) c.100600A>G (p.Lys33534Glu) c.97642A>G (p.Lys32548Glu) c.79258A>G (p.Lys26420Glu) c.100753A>G (p.Lys33585Glu) c.100750A>G (p.Lys33584Glu) c.100183A>G (p.Lys33395Glu) c.97525A>G (p.Lys32509Glu) c.97444A>G (p.Lys32482Glu) c.79207A>G (p.Lys26403Glu) c.69061A>G (p.Lys23021Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530303T>G | CA349406169 | TTN,TTN-AS1 | c.98608A>C (p.Lys32870Gln) c.79693A>C (p.Lys26565Gln) c.79492A>C (p.Lys26498Gln) c.79117A>C (p.Lys26373Gln) c.106312A>C (p.Lys35438Gln) c.101389A>C (p.Lys33797Gln) n.446+6667T>G n.220-5429T>G c.105409A>C (p.Lys35137Gln) c.79303A>C (p.Lys26435Gln) c.79162A>C (p.Lys26388Gln) c.105205A>C (p.Lys35069Gln) c.100603A>C (p.Lys33535Gln) c.100600A>C (p.Lys33534Gln) c.97642A>C (p.Lys32548Gln) c.79258A>C (p.Lys26420Gln) c.100753A>C (p.Lys33585Gln) c.100750A>C (p.Lys33584Gln) c.100183A>C (p.Lys33395Gln) c.97525A>C (p.Lys32509Gln) c.97444A>C (p.Lys32482Gln) c.79207A>C (p.Lys26403Gln) c.69061A>C (p.Lys23021Gln) | |
2 | g.178530303T= | CA1310511741 | TTN,TTN-AS1 | c.98608A= (p.Lys32870=) c.79693A= (p.Lys26565=) c.79492A= (p.Lys26498=) c.79117A= (p.Lys26373=) c.106312A= (p.Lys35438=) c.101389A= (p.Lys33797=) n.446+6667T= n.220-5429T= c.105409A= (p.Lys35137=) c.79303A= (p.Lys26435=) c.79162A= (p.Lys26388=) c.105205A= (p.Lys35069=) c.100603A= (p.Lys33535=) c.100600A= (p.Lys33534=) c.97642A= (p.Lys32548=) c.79258A= (p.Lys26420=) c.100753A= (p.Lys33585=) c.100750A= (p.Lys33584=) c.100183A= (p.Lys33395=) c.97525A= (p.Lys32509=) c.97444A= (p.Lys32482=) c.79207A= (p.Lys26403=) c.69061A= (p.Lys23021=) | |
2 | g.178530304A= | CA1310511744 | TTN,TTN-AS1 | c.98607T= (p.Ala32869=) c.79692T= (p.Ala26564=) c.79491T= (p.Ala26497=) c.79116T= (p.Ala26372=) c.106311T= (p.Ala35437=) c.101388T= (p.Ala33796=) n.446+6668A= n.220-5428A= c.105408T= (p.Ala35136=) c.79302T= (p.Ala26434=) c.79161T= (p.Ala26387=) c.105204T= (p.Ala35068=) c.100602T= (p.Ala33534=) c.100599T= (p.Ala33533=) c.97641T= (p.Ala32547=) c.79257T= (p.Ala26419=) c.100752T= (p.Ala33584=) c.100749T= (p.Ala33583=) c.100182T= (p.Ala33394=) c.97524T= (p.Ala32508=) c.97443T= (p.Ala32481=) c.79206T= (p.Ala26402=) c.69060T= (p.Ala23020=) | |
2 | g.178530304A>C | CA430235100 | TTN,TTN-AS1 | c.98607T>G (p.Ala32869=) c.79692T>G (p.Ala26564=) c.79491T>G (p.Ala26497=) c.79116T>G (p.Ala26372=) c.106311T>G (p.Ala35437=) c.101388T>G (p.Ala33796=) n.446+6668A>C n.220-5428A>C c.105408T>G (p.Ala35136=) c.79302T>G (p.Ala26434=) c.79161T>G (p.Ala26387=) c.105204T>G (p.Ala35068=) c.100602T>G (p.Ala33534=) c.100599T>G (p.Ala33533=) c.97641T>G (p.Ala32547=) c.79257T>G (p.Ala26419=) c.100752T>G (p.Ala33584=) c.100749T>G (p.Ala33583=) c.100182T>G (p.Ala33394=) c.97524T>G (p.Ala32508=) c.97443T>G (p.Ala32481=) c.79206T>G (p.Ala26402=) c.69060T>G (p.Ala23020=) | |
2 | g.178530304A>G | CA1985131 | TTN,TTN-AS1 | c.98607T>C (p.Ala32869=) c.79692T>C (p.Ala26564=) c.79491T>C (p.Ala26497=) c.79116T>C (p.Ala26372=) c.106311T>C (p.Ala35437=) c.101388T>C (p.Ala33796=) n.446+6668A>G n.220-5428A>G c.105408T>C (p.Ala35136=) c.79302T>C (p.Ala26434=) c.79161T>C (p.Ala26387=) c.105204T>C (p.Ala35068=) c.100602T>C (p.Ala33534=) c.100599T>C (p.Ala33533=) c.97641T>C (p.Ala32547=) c.79257T>C (p.Ala26419=) c.100752T>C (p.Ala33584=) c.100749T>C (p.Ala33583=) c.100182T>C (p.Ala33394=) c.97524T>C (p.Ala32508=) c.97443T>C (p.Ala32481=) c.79206T>C (p.Ala26402=) c.69060T>C (p.Ala23020=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530304A>T | CA1985130 | TTN,TTN-AS1 | c.98607T>A (p.Ala32869=) c.79692T>A (p.Ala26564=) c.79491T>A (p.Ala26497=) c.79116T>A (p.Ala26372=) c.106311T>A (p.Ala35437=) c.101388T>A (p.Ala33796=) n.446+6668A>T n.220-5428A>T c.105408T>A (p.Ala35136=) c.79302T>A (p.Ala26434=) c.79161T>A (p.Ala26387=) c.105204T>A (p.Ala35068=) c.100602T>A (p.Ala33534=) c.100599T>A (p.Ala33533=) c.97641T>A (p.Ala32547=) c.79257T>A (p.Ala26419=) c.100752T>A (p.Ala33584=) c.100749T>A (p.Ala33583=) c.100182T>A (p.Ala33394=) c.97524T>A (p.Ala32508=) c.97443T>A (p.Ala32481=) c.79206T>A (p.Ala26402=) c.69060T>A (p.Ala23020=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530305G>A | CA349406178 | TTN,TTN-AS1 | c.98606C>T (p.Ala32869Val) c.79691C>T (p.Ala26564Val) c.79490C>T (p.Ala26497Val) c.79115C>T (p.Ala26372Val) c.106310C>T (p.Ala35437Val) c.101387C>T (p.Ala33796Val) n.446+6669G>A n.220-5427G>A c.105407C>T (p.Ala35136Val) c.79301C>T (p.Ala26434Val) c.79160C>T (p.Ala26387Val) c.105203C>T (p.Ala35068Val) c.100601C>T (p.Ala33534Val) c.100598C>T (p.Ala33533Val) c.97640C>T (p.Ala32547Val) c.79256C>T (p.Ala26419Val) c.100751C>T (p.Ala33584Val) c.100748C>T (p.Ala33583Val) c.100181C>T (p.Ala33394Val) c.97523C>T (p.Ala32508Val) c.97442C>T (p.Ala32481Val) c.79205C>T (p.Ala26402Val) c.69059C>T (p.Ala23020Val) | |
2 | g.178530305G>C | CA349406180 | TTN,TTN-AS1 | c.98606C>G (p.Ala32869Gly) c.79691C>G (p.Ala26564Gly) c.79490C>G (p.Ala26497Gly) c.79115C>G (p.Ala26372Gly) c.106310C>G (p.Ala35437Gly) c.101387C>G (p.Ala33796Gly) n.446+6669G>C n.220-5427G>C c.105407C>G (p.Ala35136Gly) c.79301C>G (p.Ala26434Gly) c.79160C>G (p.Ala26387Gly) c.105203C>G (p.Ala35068Gly) c.100601C>G (p.Ala33534Gly) c.100598C>G (p.Ala33533Gly) c.97640C>G (p.Ala32547Gly) c.79256C>G (p.Ala26419Gly) c.100751C>G (p.Ala33584Gly) c.100748C>G (p.Ala33583Gly) c.100181C>G (p.Ala33394Gly) c.97523C>G (p.Ala32508Gly) c.97442C>G (p.Ala32481Gly) c.79205C>G (p.Ala26402Gly) c.69059C>G (p.Ala23020Gly) | |
2 | g.178530305G>T | CA349406182 | TTN,TTN-AS1 | c.98606C>A (p.Ala32869Asp) c.79691C>A (p.Ala26564Asp) c.79490C>A (p.Ala26497Asp) c.79115C>A (p.Ala26372Asp) c.106310C>A (p.Ala35437Asp) c.101387C>A (p.Ala33796Asp) n.446+6669G>T n.220-5427G>T c.105407C>A (p.Ala35136Asp) c.79301C>A (p.Ala26434Asp) c.79160C>A (p.Ala26387Asp) c.105203C>A (p.Ala35068Asp) c.100601C>A (p.Ala33534Asp) c.100598C>A (p.Ala33533Asp) c.97640C>A (p.Ala32547Asp) c.79256C>A (p.Ala26419Asp) c.100751C>A (p.Ala33584Asp) c.100748C>A (p.Ala33583Asp) c.100181C>A (p.Ala33394Asp) c.97523C>A (p.Ala32508Asp) c.97442C>A (p.Ala32481Asp) c.79205C>A (p.Ala26402Asp) c.69059C>A (p.Ala23020Asp) | |
2 | g.178530306C>A | CA349406192 | TTN,TTN-AS1 | c.98605G>T (p.Ala32869Ser) c.79690G>T (p.Ala26564Ser) c.79489G>T (p.Ala26497Ser) c.79114G>T (p.Ala26372Ser) c.106309G>T (p.Ala35437Ser) c.101386G>T (p.Ala33796Ser) n.446+6670C>A n.220-5426C>A c.105406G>T (p.Ala35136Ser) c.79300G>T (p.Ala26434Ser) c.79159G>T (p.Ala26387Ser) c.105202G>T (p.Ala35068Ser) c.100600G>T (p.Ala33534Ser) c.100597G>T (p.Ala33533Ser) c.97639G>T (p.Ala32547Ser) c.79255G>T (p.Ala26419Ser) c.100750G>T (p.Ala33584Ser) c.100747G>T (p.Ala33583Ser) c.100180G>T (p.Ala33394Ser) c.97522G>T (p.Ala32508Ser) c.97441G>T (p.Ala32481Ser) c.79204G>T (p.Ala26402Ser) c.69058G>T (p.Ala23020Ser) | |
2 | g.178530306C>G | CA349406188 | TTN,TTN-AS1 | c.98605G>C (p.Ala32869Pro) c.79690G>C (p.Ala26564Pro) c.79489G>C (p.Ala26497Pro) c.79114G>C (p.Ala26372Pro) c.106309G>C (p.Ala35437Pro) c.101386G>C (p.Ala33796Pro) n.446+6670C>G n.220-5426C>G c.105406G>C (p.Ala35136Pro) c.79300G>C (p.Ala26434Pro) c.79159G>C (p.Ala26387Pro) c.105202G>C (p.Ala35068Pro) c.100600G>C (p.Ala33534Pro) c.100597G>C (p.Ala33533Pro) c.97639G>C (p.Ala32547Pro) c.79255G>C (p.Ala26419Pro) c.100750G>C (p.Ala33584Pro) c.100747G>C (p.Ala33583Pro) c.100180G>C (p.Ala33394Pro) c.97522G>C (p.Ala32508Pro) c.97441G>C (p.Ala32481Pro) c.79204G>C (p.Ala26402Pro) c.69058G>C (p.Ala23020Pro) | |
2 | g.178530306C>T | CA349406187 | TTN,TTN-AS1 | c.98605G>A (p.Ala32869Thr) c.79690G>A (p.Ala26564Thr) c.79489G>A (p.Ala26497Thr) c.79114G>A (p.Ala26372Thr) c.106309G>A (p.Ala35437Thr) c.101386G>A (p.Ala33796Thr) n.446+6670C>T n.220-5426C>T c.105406G>A (p.Ala35136Thr) c.79300G>A (p.Ala26434Thr) c.79159G>A (p.Ala26387Thr) c.105202G>A (p.Ala35068Thr) c.100600G>A (p.Ala33534Thr) c.100597G>A (p.Ala33533Thr) c.97639G>A (p.Ala32547Thr) c.79255G>A (p.Ala26419Thr) c.100750G>A (p.Ala33584Thr) c.100747G>A (p.Ala33583Thr) c.100180G>A (p.Ala33394Thr) c.97522G>A (p.Ala32508Thr) c.97441G>A (p.Ala32481Thr) c.79204G>A (p.Ala26402Thr) c.69058G>A (p.Ala23020Thr) | gnomAD v4 |
2 | g.178530307A= | CA1310511749 | TTN,TTN-AS1 | c.98604T= (p.Val32868=) c.79689T= (p.Val26563=) c.79488T= (p.Val26496=) c.79113T= (p.Val26371=) c.106308T= (p.Val35436=) c.101385T= (p.Val33795=) n.446+6671A= n.220-5425A= c.105405T= (p.Val35135=) c.79299T= (p.Val26433=) c.79158T= (p.Val26386=) c.105201T= (p.Val35067=) c.100599T= (p.Val33533=) c.100596T= (p.Val33532=) c.97638T= (p.Val32546=) c.79254T= (p.Val26418=) c.100749T= (p.Val33583=) c.100746T= (p.Val33582=) c.100179T= (p.Val33393=) c.97521T= (p.Val32507=) c.97440T= (p.Val32480=) c.79203T= (p.Val26401=) c.69057T= (p.Val23019=) | |
2 | g.178530307A>C | CA430235107 | TTN,TTN-AS1 | c.98604T>G (p.Val32868=) c.79689T>G (p.Val26563=) c.79488T>G (p.Val26496=) c.79113T>G (p.Val26371=) c.106308T>G (p.Val35436=) c.101385T>G (p.Val33795=) n.446+6671A>C n.220-5425A>C c.105405T>G (p.Val35135=) c.79299T>G (p.Val26433=) c.79158T>G (p.Val26386=) c.105201T>G (p.Val35067=) c.100599T>G (p.Val33533=) c.100596T>G (p.Val33532=) c.97638T>G (p.Val32546=) c.79254T>G (p.Val26418=) c.100749T>G (p.Val33583=) c.100746T>G (p.Val33582=) c.100179T>G (p.Val33393=) c.97521T>G (p.Val32507=) c.97440T>G (p.Val32480=) c.79203T>G (p.Val26401=) c.69057T>G (p.Val23019=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530307A>G | CA430235108 | TTN,TTN-AS1 | c.98604T>C (p.Val32868=) c.79689T>C (p.Val26563=) c.79488T>C (p.Val26496=) c.79113T>C (p.Val26371=) c.106308T>C (p.Val35436=) c.101385T>C (p.Val33795=) n.446+6671A>G n.220-5425A>G c.105405T>C (p.Val35135=) c.79299T>C (p.Val26433=) c.79158T>C (p.Val26386=) c.105201T>C (p.Val35067=) c.100599T>C (p.Val33533=) c.100596T>C (p.Val33532=) c.97638T>C (p.Val32546=) c.79254T>C (p.Val26418=) c.100749T>C (p.Val33583=) c.100746T>C (p.Val33582=) c.100179T>C (p.Val33393=) c.97521T>C (p.Val32507=) c.97440T>C (p.Val32480=) c.79203T>C (p.Val26401=) c.69057T>C (p.Val23019=) | |
2 | g.178530307A>T | CA430235109 | TTN,TTN-AS1 | c.98604T>A (p.Val32868=) c.79689T>A (p.Val26563=) c.79488T>A (p.Val26496=) c.79113T>A (p.Val26371=) c.106308T>A (p.Val35436=) c.101385T>A (p.Val33795=) n.446+6671A>T n.220-5425A>T c.105405T>A (p.Val35135=) c.79299T>A (p.Val26433=) c.79158T>A (p.Val26386=) c.105201T>A (p.Val35067=) c.100599T>A (p.Val33533=) c.100596T>A (p.Val33532=) c.97638T>A (p.Val32546=) c.79254T>A (p.Val26418=) c.100749T>A (p.Val33583=) c.100746T>A (p.Val33582=) c.100179T>A (p.Val33393=) c.97521T>A (p.Val32507=) c.97440T>A (p.Val32480=) c.79203T>A (p.Val26401=) c.69057T>A (p.Val23019=) | ClinVar dbSNP |
2 | g.178530308A>C | CA349406196 | TTN,TTN-AS1 | c.98603T>G (p.Val32868Gly) c.79688T>G (p.Val26563Gly) c.79487T>G (p.Val26496Gly) c.79112T>G (p.Val26371Gly) c.106307T>G (p.Val35436Gly) c.101384T>G (p.Val33795Gly) n.446+6672A>C n.220-5424A>C c.105404T>G (p.Val35135Gly) c.79298T>G (p.Val26433Gly) c.79157T>G (p.Val26386Gly) c.105200T>G (p.Val35067Gly) c.100598T>G (p.Val33533Gly) c.100595T>G (p.Val33532Gly) c.97637T>G (p.Val32546Gly) c.79253T>G (p.Val26418Gly) c.100748T>G (p.Val33583Gly) c.100745T>G (p.Val33582Gly) c.100178T>G (p.Val33393Gly) c.97520T>G (p.Val32507Gly) c.97439T>G (p.Val32480Gly) c.79202T>G (p.Val26401Gly) c.69056T>G (p.Val23019Gly) | |
2 | g.178530308A>G | CA349406202 | TTN,TTN-AS1 | c.98603T>C (p.Val32868Ala) c.79688T>C (p.Val26563Ala) c.79487T>C (p.Val26496Ala) c.79112T>C (p.Val26371Ala) c.106307T>C (p.Val35436Ala) c.101384T>C (p.Val33795Ala) n.446+6672A>G n.220-5424A>G c.105404T>C (p.Val35135Ala) c.79298T>C (p.Val26433Ala) c.79157T>C (p.Val26386Ala) c.105200T>C (p.Val35067Ala) c.100598T>C (p.Val33533Ala) c.100595T>C (p.Val33532Ala) c.97637T>C (p.Val32546Ala) c.79253T>C (p.Val26418Ala) c.100748T>C (p.Val33583Ala) c.100745T>C (p.Val33582Ala) c.100178T>C (p.Val33393Ala) c.97520T>C (p.Val32507Ala) c.97439T>C (p.Val32480Ala) c.79202T>C (p.Val26401Ala) c.69056T>C (p.Val23019Ala) | |
2 | g.178530308A>T | CA349406199 | TTN,TTN-AS1 | c.98603T>A (p.Val32868Asp) c.79688T>A (p.Val26563Asp) c.79487T>A (p.Val26496Asp) c.79112T>A (p.Val26371Asp) c.106307T>A (p.Val35436Asp) c.101384T>A (p.Val33795Asp) n.446+6672A>T n.220-5424A>T c.105404T>A (p.Val35135Asp) c.79298T>A (p.Val26433Asp) c.79157T>A (p.Val26386Asp) c.105200T>A (p.Val35067Asp) c.100598T>A (p.Val33533Asp) c.100595T>A (p.Val33532Asp) c.97637T>A (p.Val32546Asp) c.79253T>A (p.Val26418Asp) c.100748T>A (p.Val33583Asp) c.100745T>A (p.Val33582Asp) c.100178T>A (p.Val33393Asp) c.97520T>A (p.Val32507Asp) c.97439T>A (p.Val32480Asp) c.79202T>A (p.Val26401Asp) c.69056T>A (p.Val23019Asp) | |
2 | g.178530309C>A | CA60953278 | TTN,TTN-AS1 | c.98602G>T (p.Val32868Phe) c.79687G>T (p.Val26563Phe) c.79486G>T (p.Val26496Phe) c.79111G>T (p.Val26371Phe) c.106306G>T (p.Val35436Phe) c.101383G>T (p.Val33795Phe) n.446+6673C>A n.220-5423C>A c.105403G>T (p.Val35135Phe) c.79297G>T (p.Val26433Phe) c.79156G>T (p.Val26386Phe) c.105199G>T (p.Val35067Phe) c.100597G>T (p.Val33533Phe) c.100594G>T (p.Val33532Phe) c.97636G>T (p.Val32546Phe) c.79252G>T (p.Val26418Phe) c.100747G>T (p.Val33583Phe) c.100744G>T (p.Val33582Phe) c.100177G>T (p.Val33393Phe) c.97519G>T (p.Val32507Phe) c.97438G>T (p.Val32480Phe) c.79201G>T (p.Val26401Phe) c.69055G>T (p.Val23019Phe) | dbSNP |
2 | g.178530309C= | CA1310514505 | TTN,TTN-AS1 | c.98602G= (p.Val32868=) c.79687G= (p.Val26563=) c.79486G= (p.Val26496=) c.79111G= (p.Val26371=) c.106306G= (p.Val35436=) c.101383G= (p.Val33795=) n.446+6673C= n.220-5423C= c.105403G= (p.Val35135=) c.79297G= (p.Val26433=) c.79156G= (p.Val26386=) c.105199G= (p.Val35067=) c.100597G= (p.Val33533=) c.100594G= (p.Val33532=) c.97636G= (p.Val32546=) c.79252G= (p.Val26418=) c.100747G= (p.Val33583=) c.100744G= (p.Val33582=) c.100177G= (p.Val33393=) c.97519G= (p.Val32507=) c.97438G= (p.Val32480=) c.79201G= (p.Val26401=) c.69055G= (p.Val23019=) | |
2 | g.178530309C>G | CA349406207 | TTN,TTN-AS1 | c.98602G>C (p.Val32868Leu) c.79687G>C (p.Val26563Leu) c.79486G>C (p.Val26496Leu) c.79111G>C (p.Val26371Leu) c.106306G>C (p.Val35436Leu) c.101383G>C (p.Val33795Leu) n.446+6673C>G n.220-5423C>G c.105403G>C (p.Val35135Leu) c.79297G>C (p.Val26433Leu) c.79156G>C (p.Val26386Leu) c.105199G>C (p.Val35067Leu) c.100597G>C (p.Val33533Leu) c.100594G>C (p.Val33532Leu) c.97636G>C (p.Val32546Leu) c.79252G>C (p.Val26418Leu) c.100747G>C (p.Val33583Leu) c.100744G>C (p.Val33582Leu) c.100177G>C (p.Val33393Leu) c.97519G>C (p.Val32507Leu) c.97438G>C (p.Val32480Leu) c.79201G>C (p.Val26401Leu) c.69055G>C (p.Val23019Leu) | |
2 | g.178530309C>T | CA349406208 | TTN,TTN-AS1 | c.98602G>A (p.Val32868Ile) c.79687G>A (p.Val26563Ile) c.79486G>A (p.Val26496Ile) c.79111G>A (p.Val26371Ile) c.106306G>A (p.Val35436Ile) c.101383G>A (p.Val33795Ile) n.446+6673C>T n.220-5423C>T c.105403G>A (p.Val35135Ile) c.79297G>A (p.Val26433Ile) c.79156G>A (p.Val26386Ile) c.105199G>A (p.Val35067Ile) c.100597G>A (p.Val33533Ile) c.100594G>A (p.Val33532Ile) c.97636G>A (p.Val32546Ile) c.79252G>A (p.Val26418Ile) c.100747G>A (p.Val33583Ile) c.100744G>A (p.Val33582Ile) c.100177G>A (p.Val33393Ile) c.97519G>A (p.Val32507Ile) c.97438G>A (p.Val32480Ile) c.79201G>A (p.Val26401Ile) c.69055G>A (p.Val23019Ile) | |
2 | g.178530310A= | CA1310514506 | TTN,TTN-AS1 | c.98601T= (p.Ser32867=) c.79686T= (p.Ser26562=) c.79485T= (p.Ser26495=) c.79110T= (p.Ser26370=) c.106305T= (p.Ser35435=) c.101382T= (p.Ser33794=) n.446+6674A= n.220-5422A= c.105402T= (p.Ser35134=) c.79296T= (p.Ser26432=) c.79155T= (p.Ser26385=) c.105198T= (p.Ser35066=) c.100596T= (p.Ser33532=) c.100593T= (p.Ser33531=) c.97635T= (p.Ser32545=) c.79251T= (p.Ser26417=) c.100746T= (p.Ser33582=) c.100743T= (p.Ser33581=) c.100176T= (p.Ser33392=) c.97518T= (p.Ser32506=) c.97437T= (p.Ser32479=) c.79200T= (p.Ser26400=) c.69054T= (p.Ser23018=) | |
2 | g.178530310A>C | CA349406210 | TTN,TTN-AS1 | c.98601T>G (p.Ser32867Arg) c.79686T>G (p.Ser26562Arg) c.79485T>G (p.Ser26495Arg) c.79110T>G (p.Ser26370Arg) c.106305T>G (p.Ser35435Arg) c.101382T>G (p.Ser33794Arg) n.446+6674A>C n.220-5422A>C c.105402T>G (p.Ser35134Arg) c.79296T>G (p.Ser26432Arg) c.79155T>G (p.Ser26385Arg) c.105198T>G (p.Ser35066Arg) c.100596T>G (p.Ser33532Arg) c.100593T>G (p.Ser33531Arg) c.97635T>G (p.Ser32545Arg) c.79251T>G (p.Ser26417Arg) c.100746T>G (p.Ser33582Arg) c.100743T>G (p.Ser33581Arg) c.100176T>G (p.Ser33392Arg) c.97518T>G (p.Ser32506Arg) c.97437T>G (p.Ser32479Arg) c.79200T>G (p.Ser26400Arg) c.69054T>G (p.Ser23018Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530310A>G | CA430235114 | TTN,TTN-AS1 | c.98601T>C (p.Ser32867=) c.79686T>C (p.Ser26562=) c.79485T>C (p.Ser26495=) c.79110T>C (p.Ser26370=) c.106305T>C (p.Ser35435=) c.101382T>C (p.Ser33794=) n.446+6674A>G n.220-5422A>G c.105402T>C (p.Ser35134=) c.79296T>C (p.Ser26432=) c.79155T>C (p.Ser26385=) c.105198T>C (p.Ser35066=) c.100596T>C (p.Ser33532=) c.100593T>C (p.Ser33531=) c.97635T>C (p.Ser32545=) c.79251T>C (p.Ser26417=) c.100746T>C (p.Ser33582=) c.100743T>C (p.Ser33581=) c.100176T>C (p.Ser33392=) c.97518T>C (p.Ser32506=) c.97437T>C (p.Ser32479=) c.79200T>C (p.Ser26400=) c.69054T>C (p.Ser23018=) | |
2 | g.178530310A>T | CA349406213 | TTN,TTN-AS1 | c.98601T>A (p.Ser32867Arg) c.79686T>A (p.Ser26562Arg) c.79485T>A (p.Ser26495Arg) c.79110T>A (p.Ser26370Arg) c.106305T>A (p.Ser35435Arg) c.101382T>A (p.Ser33794Arg) n.446+6674A>T n.220-5422A>T c.105402T>A (p.Ser35134Arg) c.79296T>A (p.Ser26432Arg) c.79155T>A (p.Ser26385Arg) c.105198T>A (p.Ser35066Arg) c.100596T>A (p.Ser33532Arg) c.100593T>A (p.Ser33531Arg) c.97635T>A (p.Ser32545Arg) c.79251T>A (p.Ser26417Arg) c.100746T>A (p.Ser33582Arg) c.100743T>A (p.Ser33581Arg) c.100176T>A (p.Ser33392Arg) c.97518T>A (p.Ser32506Arg) c.97437T>A (p.Ser32479Arg) c.79200T>A (p.Ser26400Arg) c.69054T>A (p.Ser23018Arg) | |
2 | g.178530311C>A | CA349406214 | TTN,TTN-AS1 | c.98600G>T (p.Ser32867Ile) c.79685G>T (p.Ser26562Ile) c.79484G>T (p.Ser26495Ile) c.79109G>T (p.Ser26370Ile) c.106304G>T (p.Ser35435Ile) c.101381G>T (p.Ser33794Ile) n.446+6675C>A n.220-5421C>A c.105401G>T (p.Ser35134Ile) c.79295G>T (p.Ser26432Ile) c.79154G>T (p.Ser26385Ile) c.105197G>T (p.Ser35066Ile) c.100595G>T (p.Ser33532Ile) c.100592G>T (p.Ser33531Ile) c.97634G>T (p.Ser32545Ile) c.79250G>T (p.Ser26417Ile) c.100745G>T (p.Ser33582Ile) c.100742G>T (p.Ser33581Ile) c.100175G>T (p.Ser33392Ile) c.97517G>T (p.Ser32506Ile) c.97436G>T (p.Ser32479Ile) c.79199G>T (p.Ser26400Ile) c.69053G>T (p.Ser23018Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530311C= | CA1310514507 | TTN,TTN-AS1 | c.98600G= (p.Ser32867=) c.79685G= (p.Ser26562=) c.79484G= (p.Ser26495=) c.79109G= (p.Ser26370=) c.106304G= (p.Ser35435=) c.101381G= (p.Ser33794=) n.446+6675C= n.220-5421C= c.105401G= (p.Ser35134=) c.79295G= (p.Ser26432=) c.79154G= (p.Ser26385=) c.105197G= (p.Ser35066=) c.100595G= (p.Ser33532=) c.100592G= (p.Ser33531=) c.97634G= (p.Ser32545=) c.79250G= (p.Ser26417=) c.100745G= (p.Ser33582=) c.100742G= (p.Ser33581=) c.100175G= (p.Ser33392=) c.97517G= (p.Ser32506=) c.97436G= (p.Ser32479=) c.79199G= (p.Ser26400=) c.69053G= (p.Ser23018=) | |
2 | g.178530311C>G | CA349406216 | TTN,TTN-AS1 | c.98600G>C (p.Ser32867Thr) c.79685G>C (p.Ser26562Thr) c.79484G>C (p.Ser26495Thr) c.79109G>C (p.Ser26370Thr) c.106304G>C (p.Ser35435Thr) c.101381G>C (p.Ser33794Thr) n.446+6675C>G n.220-5421C>G c.105401G>C (p.Ser35134Thr) c.79295G>C (p.Ser26432Thr) c.79154G>C (p.Ser26385Thr) c.105197G>C (p.Ser35066Thr) c.100595G>C (p.Ser33532Thr) c.100592G>C (p.Ser33531Thr) c.97634G>C (p.Ser32545Thr) c.79250G>C (p.Ser26417Thr) c.100745G>C (p.Ser33582Thr) c.100742G>C (p.Ser33581Thr) c.100175G>C (p.Ser33392Thr) c.97517G>C (p.Ser32506Thr) c.97436G>C (p.Ser32479Thr) c.79199G>C (p.Ser26400Thr) c.69053G>C (p.Ser23018Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530311C>T | CA349406218 | TTN,TTN-AS1 | c.98600G>A (p.Ser32867Asn) c.79685G>A (p.Ser26562Asn) c.79484G>A (p.Ser26495Asn) c.79109G>A (p.Ser26370Asn) c.106304G>A (p.Ser35435Asn) c.101381G>A (p.Ser33794Asn) n.446+6675C>T n.220-5421C>T c.105401G>A (p.Ser35134Asn) c.79295G>A (p.Ser26432Asn) c.79154G>A (p.Ser26385Asn) c.105197G>A (p.Ser35066Asn) c.100595G>A (p.Ser33532Asn) c.100592G>A (p.Ser33531Asn) c.97634G>A (p.Ser32545Asn) c.79250G>A (p.Ser26417Asn) c.100745G>A (p.Ser33582Asn) c.100742G>A (p.Ser33581Asn) c.100175G>A (p.Ser33392Asn) c.97517G>A (p.Ser32506Asn) c.97436G>A (p.Ser32479Asn) c.79199G>A (p.Ser26400Asn) c.69053G>A (p.Ser23018Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.178530312T>A | CA349406222 | TTN,TTN-AS1 | c.98599A>T (p.Ser32867Cys) c.79684A>T (p.Ser26562Cys) c.79483A>T (p.Ser26495Cys) c.79108A>T (p.Ser26370Cys) c.106303A>T (p.Ser35435Cys) c.101380A>T (p.Ser33794Cys) n.446+6676T>A n.220-5420T>A c.105400A>T (p.Ser35134Cys) c.79294A>T (p.Ser26432Cys) c.79153A>T (p.Ser26385Cys) c.105196A>T (p.Ser35066Cys) c.100594A>T (p.Ser33532Cys) c.100591A>T (p.Ser33531Cys) c.97633A>T (p.Ser32545Cys) c.79249A>T (p.Ser26417Cys) c.100744A>T (p.Ser33582Cys) c.100741A>T (p.Ser33581Cys) c.100174A>T (p.Ser33392Cys) c.97516A>T (p.Ser32506Cys) c.97435A>T (p.Ser32479Cys) c.79198A>T (p.Ser26400Cys) c.69052A>T (p.Ser23018Cys) | |
2 | g.178530312T>C | CA349406226 | TTN,TTN-AS1 | c.98599A>G (p.Ser32867Gly) c.79684A>G (p.Ser26562Gly) c.79483A>G (p.Ser26495Gly) c.79108A>G (p.Ser26370Gly) c.106303A>G (p.Ser35435Gly) c.101380A>G (p.Ser33794Gly) n.446+6676T>C n.220-5420T>C c.105400A>G (p.Ser35134Gly) c.79294A>G (p.Ser26432Gly) c.79153A>G (p.Ser26385Gly) c.105196A>G (p.Ser35066Gly) c.100594A>G (p.Ser33532Gly) c.100591A>G (p.Ser33531Gly) c.97633A>G (p.Ser32545Gly) c.79249A>G (p.Ser26417Gly) c.100744A>G (p.Ser33582Gly) c.100741A>G (p.Ser33581Gly) c.100174A>G (p.Ser33392Gly) c.97516A>G (p.Ser32506Gly) c.97435A>G (p.Ser32479Gly) c.79198A>G (p.Ser26400Gly) c.69052A>G (p.Ser23018Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530312T>G | CA349406227 | TTN,TTN-AS1 | c.98599A>C (p.Ser32867Arg) c.79684A>C (p.Ser26562Arg) c.79483A>C (p.Ser26495Arg) c.79108A>C (p.Ser26370Arg) c.106303A>C (p.Ser35435Arg) c.101380A>C (p.Ser33794Arg) n.446+6676T>G n.220-5420T>G c.105400A>C (p.Ser35134Arg) c.79294A>C (p.Ser26432Arg) c.79153A>C (p.Ser26385Arg) c.105196A>C (p.Ser35066Arg) c.100594A>C (p.Ser33532Arg) c.100591A>C (p.Ser33531Arg) c.97633A>C (p.Ser32545Arg) c.79249A>C (p.Ser26417Arg) c.100744A>C (p.Ser33582Arg) c.100741A>C (p.Ser33581Arg) c.100174A>C (p.Ser33392Arg) c.97516A>C (p.Ser32506Arg) c.97435A>C (p.Ser32479Arg) c.79198A>C (p.Ser26400Arg) c.69052A>C (p.Ser23018Arg) | |
2 | g.178530312T= | CA1310514508 | TTN,TTN-AS1 | c.98599A= (p.Ser32867=) c.79684A= (p.Ser26562=) c.79483A= (p.Ser26495=) c.79108A= (p.Ser26370=) c.106303A= (p.Ser35435=) c.101380A= (p.Ser33794=) n.446+6676T= n.220-5420T= c.105400A= (p.Ser35134=) c.79294A= (p.Ser26432=) c.79153A= (p.Ser26385=) c.105196A= (p.Ser35066=) c.100594A= (p.Ser33532=) c.100591A= (p.Ser33531=) c.97633A= (p.Ser32545=) c.79249A= (p.Ser26417=) c.100744A= (p.Ser33582=) c.100741A= (p.Ser33581=) c.100174A= (p.Ser33392=) c.97516A= (p.Ser32506=) c.97435A= (p.Ser32479=) c.79198A= (p.Ser26400=) c.69052A= (p.Ser23018=) | |
2 | g.178530313G>A | CA430235119 | TTN,TTN-AS1 | c.98598C>T (p.Asp32866=) c.79683C>T (p.Asp26561=) c.79482C>T (p.Asp26494=) c.79107C>T (p.Asp26369=) c.106302C>T (p.Asp35434=) c.101379C>T (p.Asp33793=) n.446+6677G>A n.220-5419G>A c.105399C>T (p.Asp35133=) c.79293C>T (p.Asp26431=) c.79152C>T (p.Asp26384=) c.105195C>T (p.Asp35065=) c.100593C>T (p.Asp33531=) c.100590C>T (p.Asp33530=) c.97632C>T (p.Asp32544=) c.79248C>T (p.Asp26416=) c.100743C>T (p.Asp33581=) c.100740C>T (p.Asp33580=) c.100173C>T (p.Asp33391=) c.97515C>T (p.Asp32505=) c.97434C>T (p.Asp32478=) c.79197C>T (p.Asp26399=) c.69051C>T (p.Asp23017=) | ClinVar dbSNP |
2 | g.178530313G>C | CA349406230 | TTN,TTN-AS1 | c.98598C>G (p.Asp32866Glu) c.79683C>G (p.Asp26561Glu) c.79482C>G (p.Asp26494Glu) c.79107C>G (p.Asp26369Glu) c.106302C>G (p.Asp35434Glu) c.101379C>G (p.Asp33793Glu) n.446+6677G>C n.220-5419G>C c.105399C>G (p.Asp35133Glu) c.79293C>G (p.Asp26431Glu) c.79152C>G (p.Asp26384Glu) c.105195C>G (p.Asp35065Glu) c.100593C>G (p.Asp33531Glu) c.100590C>G (p.Asp33530Glu) c.97632C>G (p.Asp32544Glu) c.79248C>G (p.Asp26416Glu) c.100743C>G (p.Asp33581Glu) c.100740C>G (p.Asp33580Glu) c.100173C>G (p.Asp33391Glu) c.97515C>G (p.Asp32505Glu) c.97434C>G (p.Asp32478Glu) c.79197C>G (p.Asp26399Glu) c.69051C>G (p.Asp23017Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530313G= | CA1310514509 | TTN,TTN-AS1 | c.98598C= (p.Asp32866=) c.79683C= (p.Asp26561=) c.79482C= (p.Asp26494=) c.79107C= (p.Asp26369=) c.106302C= (p.Asp35434=) c.101379C= (p.Asp33793=) n.446+6677G= n.220-5419G= c.105399C= (p.Asp35133=) c.79293C= (p.Asp26431=) c.79152C= (p.Asp26384=) c.105195C= (p.Asp35065=) c.100593C= (p.Asp33531=) c.100590C= (p.Asp33530=) c.97632C= (p.Asp32544=) c.79248C= (p.Asp26416=) c.100743C= (p.Asp33581=) c.100740C= (p.Asp33580=) c.100173C= (p.Asp33391=) c.97515C= (p.Asp32505=) c.97434C= (p.Asp32478=) c.79197C= (p.Asp26399=) c.69051C= (p.Asp23017=) | |
2 | g.178530313G>T | CA349406233 | TTN,TTN-AS1 | c.98598C>A (p.Asp32866Glu) c.79683C>A (p.Asp26561Glu) c.79482C>A (p.Asp26494Glu) c.79107C>A (p.Asp26369Glu) c.106302C>A (p.Asp35434Glu) c.101379C>A (p.Asp33793Glu) n.446+6677G>T n.220-5419G>T c.105399C>A (p.Asp35133Glu) c.79293C>A (p.Asp26431Glu) c.79152C>A (p.Asp26384Glu) c.105195C>A (p.Asp35065Glu) c.100593C>A (p.Asp33531Glu) c.100590C>A (p.Asp33530Glu) c.97632C>A (p.Asp32544Glu) c.79248C>A (p.Asp26416Glu) c.100743C>A (p.Asp33581Glu) c.100740C>A (p.Asp33580Glu) c.100173C>A (p.Asp33391Glu) c.97515C>A (p.Asp32505Glu) c.97434C>A (p.Asp32478Glu) c.79197C>A (p.Asp26399Glu) c.69051C>A (p.Asp23017Glu) | |
2 | g.178530314T>A | CA349406237 | TTN,TTN-AS1 | c.98597A>T (p.Asp32866Val) c.79682A>T (p.Asp26561Val) c.79481A>T (p.Asp26494Val) c.79106A>T (p.Asp26369Val) c.106301A>T (p.Asp35434Val) c.101378A>T (p.Asp33793Val) n.446+6678T>A n.220-5418T>A c.105398A>T (p.Asp35133Val) c.79292A>T (p.Asp26431Val) c.79151A>T (p.Asp26384Val) c.105194A>T (p.Asp35065Val) c.100592A>T (p.Asp33531Val) c.100589A>T (p.Asp33530Val) c.97631A>T (p.Asp32544Val) c.79247A>T (p.Asp26416Val) c.100742A>T (p.Asp33581Val) c.100739A>T (p.Asp33580Val) c.100172A>T (p.Asp33391Val) c.97514A>T (p.Asp32505Val) c.97433A>T (p.Asp32478Val) c.79196A>T (p.Asp26399Val) c.69050A>T (p.Asp23017Val) | |
2 | g.178530314T>C | CA349406242 | TTN,TTN-AS1 | c.98597A>G (p.Asp32866Gly) c.79682A>G (p.Asp26561Gly) c.79481A>G (p.Asp26494Gly) c.79106A>G (p.Asp26369Gly) c.106301A>G (p.Asp35434Gly) c.101378A>G (p.Asp33793Gly) n.446+6678T>C n.220-5418T>C c.105398A>G (p.Asp35133Gly) c.79292A>G (p.Asp26431Gly) c.79151A>G (p.Asp26384Gly) c.105194A>G (p.Asp35065Gly) c.100592A>G (p.Asp33531Gly) c.100589A>G (p.Asp33530Gly) c.97631A>G (p.Asp32544Gly) c.79247A>G (p.Asp26416Gly) c.100742A>G (p.Asp33581Gly) c.100739A>G (p.Asp33580Gly) c.100172A>G (p.Asp33391Gly) c.97514A>G (p.Asp32505Gly) c.97433A>G (p.Asp32478Gly) c.79196A>G (p.Asp26399Gly) c.69050A>G (p.Asp23017Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530314T>G | CA349406239 | TTN,TTN-AS1 | c.98597A>C (p.Asp32866Ala) c.79682A>C (p.Asp26561Ala) c.79481A>C (p.Asp26494Ala) c.79106A>C (p.Asp26369Ala) c.106301A>C (p.Asp35434Ala) c.101378A>C (p.Asp33793Ala) n.446+6678T>G n.220-5418T>G c.105398A>C (p.Asp35133Ala) c.79292A>C (p.Asp26431Ala) c.79151A>C (p.Asp26384Ala) c.105194A>C (p.Asp35065Ala) c.100592A>C (p.Asp33531Ala) c.100589A>C (p.Asp33530Ala) c.97631A>C (p.Asp32544Ala) c.79247A>C (p.Asp26416Ala) c.100742A>C (p.Asp33581Ala) c.100739A>C (p.Asp33580Ala) c.100172A>C (p.Asp33391Ala) c.97514A>C (p.Asp32505Ala) c.97433A>C (p.Asp32478Ala) c.79196A>C (p.Asp26399Ala) c.69050A>C (p.Asp23017Ala) | |
2 | g.178530314T= | CA1310514510 | TTN,TTN-AS1 | c.98597A= (p.Asp32866=) c.79682A= (p.Asp26561=) c.79481A= (p.Asp26494=) c.79106A= (p.Asp26369=) c.106301A= (p.Asp35434=) c.101378A= (p.Asp33793=) n.446+6678T= n.220-5418T= c.105398A= (p.Asp35133=) c.79292A= (p.Asp26431=) c.79151A= (p.Asp26384=) c.105194A= (p.Asp35065=) c.100592A= (p.Asp33531=) c.100589A= (p.Asp33530=) c.97631A= (p.Asp32544=) c.79247A= (p.Asp26416=) c.100742A= (p.Asp33581=) c.100739A= (p.Asp33580=) c.100172A= (p.Asp33391=) c.97514A= (p.Asp32505=) c.97433A= (p.Asp32478=) c.79196A= (p.Asp26399=) c.69050A= (p.Asp23017=) | |
2 | g.178530315C>A | CA349406246 | TTN,TTN-AS1 | c.98596G>T (p.Asp32866Tyr) c.79681G>T (p.Asp26561Tyr) c.79480G>T (p.Asp26494Tyr) c.79105G>T (p.Asp26369Tyr) c.106300G>T (p.Asp35434Tyr) c.101377G>T (p.Asp33793Tyr) n.446+6679C>A n.220-5417C>A c.105397G>T (p.Asp35133Tyr) c.79291G>T (p.Asp26431Tyr) c.79150G>T (p.Asp26384Tyr) c.105193G>T (p.Asp35065Tyr) c.100591G>T (p.Asp33531Tyr) c.100588G>T (p.Asp33530Tyr) c.97630G>T (p.Asp32544Tyr) c.79246G>T (p.Asp26416Tyr) c.100741G>T (p.Asp33581Tyr) c.100738G>T (p.Asp33580Tyr) c.100171G>T (p.Asp33391Tyr) c.97513G>T (p.Asp32505Tyr) c.97432G>T (p.Asp32478Tyr) c.79195G>T (p.Asp26399Tyr) c.69049G>T (p.Asp23017Tyr) | gnomAD v4 |
2 | g.178530315C= | CA1310514511 | TTN,TTN-AS1 | c.98596G= (p.Asp32866=) c.79681G= (p.Asp26561=) c.79480G= (p.Asp26494=) c.79105G= (p.Asp26369=) c.106300G= (p.Asp35434=) c.101377G= (p.Asp33793=) n.446+6679C= n.220-5417C= c.105397G= (p.Asp35133=) c.79291G= (p.Asp26431=) c.79150G= (p.Asp26384=) c.105193G= (p.Asp35065=) c.100591G= (p.Asp33531=) c.100588G= (p.Asp33530=) c.97630G= (p.Asp32544=) c.79246G= (p.Asp26416=) c.100741G= (p.Asp33581=) c.100738G= (p.Asp33580=) c.100171G= (p.Asp33391=) c.97513G= (p.Asp32505=) c.97432G= (p.Asp32478=) c.79195G= (p.Asp26399=) c.69049G= (p.Asp23017=) | |
2 | g.178530315C>G | CA1985132 | TTN,TTN-AS1 | c.98596G>C (p.Asp32866His) c.79681G>C (p.Asp26561His) c.79480G>C (p.Asp26494His) c.79105G>C (p.Asp26369His) c.106300G>C (p.Asp35434His) c.101377G>C (p.Asp33793His) n.446+6679C>G n.220-5417C>G c.105397G>C (p.Asp35133His) c.79291G>C (p.Asp26431His) c.79150G>C (p.Asp26384His) c.105193G>C (p.Asp35065His) c.100591G>C (p.Asp33531His) c.100588G>C (p.Asp33530His) c.97630G>C (p.Asp32544His) c.79246G>C (p.Asp26416His) c.100741G>C (p.Asp33581His) c.100738G>C (p.Asp33580His) c.100171G>C (p.Asp33391His) c.97513G>C (p.Asp32505His) c.97432G>C (p.Asp32478His) c.79195G>C (p.Asp26399His) c.69049G>C (p.Asp23017His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530315C>T | CA349406248 | TTN,TTN-AS1 | c.98596G>A (p.Asp32866Asn) c.79681G>A (p.Asp26561Asn) c.79480G>A (p.Asp26494Asn) c.79105G>A (p.Asp26369Asn) c.106300G>A (p.Asp35434Asn) c.101377G>A (p.Asp33793Asn) n.446+6679C>T n.220-5417C>T c.105397G>A (p.Asp35133Asn) c.79291G>A (p.Asp26431Asn) c.79150G>A (p.Asp26384Asn) c.105193G>A (p.Asp35065Asn) c.100591G>A (p.Asp33531Asn) c.100588G>A (p.Asp33530Asn) c.97630G>A (p.Asp32544Asn) c.79246G>A (p.Asp26416Asn) c.100741G>A (p.Asp33581Asn) c.100738G>A (p.Asp33580Asn) c.100171G>A (p.Asp33391Asn) c.97513G>A (p.Asp32505Asn) c.97432G>A (p.Asp32478Asn) c.79195G>A (p.Asp26399Asn) c.69049G>A (p.Asp23017Asn) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530316T>A | CA430235123 | TTN,TTN-AS1 | c.98595A>T (p.Ser32865=) c.79680A>T (p.Ser26560=) c.79479A>T (p.Ser26493=) c.79104A>T (p.Ser26368=) c.106299A>T (p.Ser35433=) c.101376A>T (p.Ser33792=) n.446+6680T>A n.220-5416T>A c.105396A>T (p.Ser35132=) c.79290A>T (p.Ser26430=) c.79149A>T (p.Ser26383=) c.105192A>T (p.Ser35064=) c.100590A>T (p.Ser33530=) c.100587A>T (p.Ser33529=) c.97629A>T (p.Ser32543=) c.79245A>T (p.Ser26415=) c.100740A>T (p.Ser33580=) c.100737A>T (p.Ser33579=) c.100170A>T (p.Ser33390=) c.97512A>T (p.Ser32504=) c.97431A>T (p.Ser32477=) c.79194A>T (p.Ser26398=) c.69048A>T (p.Ser23016=) | |
2 | g.178530316T>C | CA430235124 | TTN,TTN-AS1 | c.98595A>G (p.Ser32865=) c.79680A>G (p.Ser26560=) c.79479A>G (p.Ser26493=) c.79104A>G (p.Ser26368=) c.106299A>G (p.Ser35433=) c.101376A>G (p.Ser33792=) n.446+6680T>C n.220-5416T>C c.105396A>G (p.Ser35132=) c.79290A>G (p.Ser26430=) c.79149A>G (p.Ser26383=) c.105192A>G (p.Ser35064=) c.100590A>G (p.Ser33530=) c.100587A>G (p.Ser33529=) c.97629A>G (p.Ser32543=) c.79245A>G (p.Ser26415=) c.100740A>G (p.Ser33580=) c.100737A>G (p.Ser33579=) c.100170A>G (p.Ser33390=) c.97512A>G (p.Ser32504=) c.97431A>G (p.Ser32477=) c.79194A>G (p.Ser26398=) c.69048A>G (p.Ser23016=) | |
2 | g.178530316T>G | CA430235125 | TTN,TTN-AS1 | c.98595A>C (p.Ser32865=) c.79680A>C (p.Ser26560=) c.79479A>C (p.Ser26493=) c.79104A>C (p.Ser26368=) c.106299A>C (p.Ser35433=) c.101376A>C (p.Ser33792=) n.446+6680T>G n.220-5416T>G c.105396A>C (p.Ser35132=) c.79290A>C (p.Ser26430=) c.79149A>C (p.Ser26383=) c.105192A>C (p.Ser35064=) c.100590A>C (p.Ser33530=) c.100587A>C (p.Ser33529=) c.97629A>C (p.Ser32543=) c.79245A>C (p.Ser26415=) c.100740A>C (p.Ser33580=) c.100737A>C (p.Ser33579=) c.100170A>C (p.Ser33390=) c.97512A>C (p.Ser32504=) c.97431A>C (p.Ser32477=) c.79194A>C (p.Ser26398=) c.69048A>C (p.Ser23016=) | |
2 | g.178530316_178530319delinsTGAA | CA1310514512 | TTN,TTN-AS1 | c.98592_98595delinsTTCA (p.Ser32864=) c.79677_79680delinsTTCA (p.Ser26559=) c.79476_79479delinsTTCA (p.Ser26492=) c.79101_79104delinsTTCA (p.Ser26367=) c.106296_106299delinsTTCA (p.Ser35432=) c.101373_101376delinsTTCA (p.Ser33791=) n.446+6680_446+6683delinsTGAA n.220-5416_220-5413delinsTGAA c.105393_105396delinsTTCA (p.Ser35131=) c.79287_79290delinsTTCA (p.Ser26429=) c.79146_79149delinsTTCA (p.Ser26382=) c.105189_105192delinsTTCA (p.Ser35063=) c.100587_100590delinsTTCA (p.Ser33529=) c.100584_100587delinsTTCA (p.Ser33528=) c.97626_97629delinsTTCA (p.Ser32542=) c.79242_79245delinsTTCA (p.Ser26414=) c.100737_100740delinsTTCA (p.Ser33579=) c.100734_100737delinsTTCA (p.Ser33578=) c.100167_100170delinsTTCA (p.Ser33389=) c.97509_97512delinsTTCA (p.Ser32503=) c.97428_97431delinsTTCA (p.Ser32476=) c.79191_79194delinsTTCA (p.Ser26397=) c.69045_69048delinsTTCA (p.Ser23015=) | |
2 | g.178530317G>A | CA349406257 | TTN,TTN-AS1 | c.98594C>T (p.Ser32865Leu) c.79679C>T (p.Ser26560Leu) c.79478C>T (p.Ser26493Leu) c.79103C>T (p.Ser26368Leu) c.106298C>T (p.Ser35433Leu) c.101375C>T (p.Ser33792Leu) n.446+6681G>A n.220-5415G>A c.105395C>T (p.Ser35132Leu) c.79289C>T (p.Ser26430Leu) c.79148C>T (p.Ser26383Leu) c.105191C>T (p.Ser35064Leu) c.100589C>T (p.Ser33530Leu) c.100586C>T (p.Ser33529Leu) c.97628C>T (p.Ser32543Leu) c.79244C>T (p.Ser26415Leu) c.100739C>T (p.Ser33580Leu) c.100736C>T (p.Ser33579Leu) c.100169C>T (p.Ser33390Leu) c.97511C>T (p.Ser32504Leu) c.97430C>T (p.Ser32477Leu) c.79193C>T (p.Ser26398Leu) c.69047C>T (p.Ser23016Leu) | gnomAD v4 |
2 | g.178530317G>C | CA349406258 | TTN,TTN-AS1 | c.98594C>G (p.Ser32865Ter) c.79679C>G (p.Ser26560Ter) c.79478C>G (p.Ser26493Ter) c.79103C>G (p.Ser26368Ter) c.106298C>G (p.Ser35433Ter) c.101375C>G (p.Ser33792Ter) n.446+6681G>C n.220-5415G>C c.105395C>G (p.Ser35132Ter) c.79289C>G (p.Ser26430Ter) c.79148C>G (p.Ser26383Ter) c.105191C>G (p.Ser35064Ter) c.100589C>G (p.Ser33530Ter) c.100586C>G (p.Ser33529Ter) c.97628C>G (p.Ser32543Ter) c.79244C>G (p.Ser26415Ter) c.100739C>G (p.Ser33580Ter) c.100736C>G (p.Ser33579Ter) c.100169C>G (p.Ser33390Ter) c.97511C>G (p.Ser32504Ter) c.97430C>G (p.Ser32477Ter) c.79193C>G (p.Ser26398Ter) c.69047C>G (p.Ser23016Ter) | |
2 | g.178530317G>T | CA349406260 | TTN,TTN-AS1 | c.98594C>A (p.Ser32865Ter) c.79679C>A (p.Ser26560Ter) c.79478C>A (p.Ser26493Ter) c.79103C>A (p.Ser26368Ter) c.106298C>A (p.Ser35433Ter) c.101375C>A (p.Ser33792Ter) n.446+6681G>T n.220-5415G>T c.105395C>A (p.Ser35132Ter) c.79289C>A (p.Ser26430Ter) c.79148C>A (p.Ser26383Ter) c.105191C>A (p.Ser35064Ter) c.100589C>A (p.Ser33530Ter) c.100586C>A (p.Ser33529Ter) c.97628C>A (p.Ser32543Ter) c.79244C>A (p.Ser26415Ter) c.100739C>A (p.Ser33580Ter) c.100736C>A (p.Ser33579Ter) c.100169C>A (p.Ser33390Ter) c.97511C>A (p.Ser32504Ter) c.97430C>A (p.Ser32477Ter) c.79193C>A (p.Ser26398Ter) c.69047C>A (p.Ser23016Ter) | |
2 | g.178530320_178530322del | CA538434976 | TTN,TTN-AS1 | c.98592_98594del (p.Ser32865del) c.79677_79679del (p.Ser26560del) c.79476_79478del (p.Ser26493del) c.79101_79103del (p.Ser26368del) c.106296_106298del (p.Ser35433del) c.101373_101375del (p.Ser33792del) n.446+6684_446+6686del n.220-5412_220-5410del c.105393_105395del (p.Ser35132del) c.79287_79289del (p.Ser26430del) c.79146_79148del (p.Ser26383del) c.105189_105191del (p.Ser35064del) c.100587_100589del (p.Ser33530del) c.100584_100586del (p.Ser33529del) c.97626_97628del (p.Ser32543del) c.79242_79244del (p.Ser26415del) c.100737_100739del (p.Ser33580del) c.100734_100736del (p.Ser33579del) c.100167_100169del (p.Ser33390del) c.97509_97511del (p.Ser32504del) c.97428_97430del (p.Ser32477del) c.79191_79193del (p.Ser26398del) c.69045_69047del (p.Ser23016del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530318A>C | CA349406262 | TTN,TTN-AS1 | c.98593T>G (p.Ser32865Ala) c.79678T>G (p.Ser26560Ala) c.79477T>G (p.Ser26493Ala) c.79102T>G (p.Ser26368Ala) c.106297T>G (p.Ser35433Ala) c.101374T>G (p.Ser33792Ala) n.446+6682A>C n.220-5414A>C c.105394T>G (p.Ser35132Ala) c.79288T>G (p.Ser26430Ala) c.79147T>G (p.Ser26383Ala) c.105190T>G (p.Ser35064Ala) c.100588T>G (p.Ser33530Ala) c.100585T>G (p.Ser33529Ala) c.97627T>G (p.Ser32543Ala) c.79243T>G (p.Ser26415Ala) c.100738T>G (p.Ser33580Ala) c.100735T>G (p.Ser33579Ala) c.100168T>G (p.Ser33390Ala) c.97510T>G (p.Ser32504Ala) c.97429T>G (p.Ser32477Ala) c.79192T>G (p.Ser26398Ala) c.69046T>G (p.Ser23016Ala) | |
2 | g.178530318A>G | CA349406263 | TTN,TTN-AS1 | c.98593T>C (p.Ser32865Pro) c.79678T>C (p.Ser26560Pro) c.79477T>C (p.Ser26493Pro) c.79102T>C (p.Ser26368Pro) c.106297T>C (p.Ser35433Pro) c.101374T>C (p.Ser33792Pro) n.446+6682A>G n.220-5414A>G c.105394T>C (p.Ser35132Pro) c.79288T>C (p.Ser26430Pro) c.79147T>C (p.Ser26383Pro) c.105190T>C (p.Ser35064Pro) c.100588T>C (p.Ser33530Pro) c.100585T>C (p.Ser33529Pro) c.97627T>C (p.Ser32543Pro) c.79243T>C (p.Ser26415Pro) c.100738T>C (p.Ser33580Pro) c.100735T>C (p.Ser33579Pro) c.100168T>C (p.Ser33390Pro) c.97510T>C (p.Ser32504Pro) c.97429T>C (p.Ser32477Pro) c.79192T>C (p.Ser26398Pro) c.69046T>C (p.Ser23016Pro) | |
2 | g.178530318A>T | CA349406265 | TTN,TTN-AS1 | c.98593T>A (p.Ser32865Thr) c.79678T>A (p.Ser26560Thr) c.79477T>A (p.Ser26493Thr) c.79102T>A (p.Ser26368Thr) c.106297T>A (p.Ser35433Thr) c.101374T>A (p.Ser33792Thr) n.446+6682A>T n.220-5414A>T c.105394T>A (p.Ser35132Thr) c.79288T>A (p.Ser26430Thr) c.79147T>A (p.Ser26383Thr) c.105190T>A (p.Ser35064Thr) c.100588T>A (p.Ser33530Thr) c.100585T>A (p.Ser33529Thr) c.97627T>A (p.Ser32543Thr) c.79243T>A (p.Ser26415Thr) c.100738T>A (p.Ser33580Thr) c.100735T>A (p.Ser33579Thr) c.100168T>A (p.Ser33390Thr) c.97510T>A (p.Ser32504Thr) c.97429T>A (p.Ser32477Thr) c.79192T>A (p.Ser26398Thr) c.69046T>A (p.Ser23016Thr) | |
2 | g.178530319A>C | CA430235129 | TTN,TTN-AS1 | c.98592T>G (p.Ser32864=) c.79677T>G (p.Ser26559=) c.79476T>G (p.Ser26492=) c.79101T>G (p.Ser26367=) c.106296T>G (p.Ser35432=) c.101373T>G (p.Ser33791=) n.446+6683A>C n.220-5413A>C c.105393T>G (p.Ser35131=) c.79287T>G (p.Ser26429=) c.79146T>G (p.Ser26382=) c.105189T>G (p.Ser35063=) c.100587T>G (p.Ser33529=) c.100584T>G (p.Ser33528=) c.97626T>G (p.Ser32542=) c.79242T>G (p.Ser26414=) c.100737T>G (p.Ser33579=) c.100734T>G (p.Ser33578=) c.100167T>G (p.Ser33389=) c.97509T>G (p.Ser32503=) c.97428T>G (p.Ser32476=) c.79191T>G (p.Ser26397=) c.69045T>G (p.Ser23015=) | |
2 | g.178530319A>G | CA430235131 | TTN,TTN-AS1 | c.98592T>C (p.Ser32864=) c.79677T>C (p.Ser26559=) c.79476T>C (p.Ser26492=) c.79101T>C (p.Ser26367=) c.106296T>C (p.Ser35432=) c.101373T>C (p.Ser33791=) n.446+6683A>G n.220-5413A>G c.105393T>C (p.Ser35131=) c.79287T>C (p.Ser26429=) c.79146T>C (p.Ser26382=) c.105189T>C (p.Ser35063=) c.100587T>C (p.Ser33529=) c.100584T>C (p.Ser33528=) c.97626T>C (p.Ser32542=) c.79242T>C (p.Ser26414=) c.100737T>C (p.Ser33579=) c.100734T>C (p.Ser33578=) c.100167T>C (p.Ser33389=) c.97509T>C (p.Ser32503=) c.97428T>C (p.Ser32476=) c.79191T>C (p.Ser26397=) c.69045T>C (p.Ser23015=) | ClinVar |
2 | g.178530319A>T | CA430235132 | TTN,TTN-AS1 | c.98592T>A (p.Ser32864=) c.79677T>A (p.Ser26559=) c.79476T>A (p.Ser26492=) c.79101T>A (p.Ser26367=) c.106296T>A (p.Ser35432=) c.101373T>A (p.Ser33791=) n.446+6683A>T n.220-5413A>T c.105393T>A (p.Ser35131=) c.79287T>A (p.Ser26429=) c.79146T>A (p.Ser26382=) c.105189T>A (p.Ser35063=) c.100587T>A (p.Ser33529=) c.100584T>A (p.Ser33528=) c.97626T>A (p.Ser32542=) c.79242T>A (p.Ser26414=) c.100737T>A (p.Ser33579=) c.100734T>A (p.Ser33578=) c.100167T>A (p.Ser33389=) c.97509T>A (p.Ser32503=) c.97428T>A (p.Ser32476=) c.79191T>A (p.Ser26397=) c.69045T>A (p.Ser23015=) | |
2 | g.178530320G>A | CA349406274 | TTN,TTN-AS1 | c.98591C>T (p.Ser32864Phe) c.79676C>T (p.Ser26559Phe) c.79475C>T (p.Ser26492Phe) c.79100C>T (p.Ser26367Phe) c.106295C>T (p.Ser35432Phe) c.101372C>T (p.Ser33791Phe) n.446+6684G>A n.220-5412G>A c.105392C>T (p.Ser35131Phe) c.79286C>T (p.Ser26429Phe) c.79145C>T (p.Ser26382Phe) c.105188C>T (p.Ser35063Phe) c.100586C>T (p.Ser33529Phe) c.100583C>T (p.Ser33528Phe) c.97625C>T (p.Ser32542Phe) c.79241C>T (p.Ser26414Phe) c.100736C>T (p.Ser33579Phe) c.100733C>T (p.Ser33578Phe) c.100166C>T (p.Ser33389Phe) c.97508C>T (p.Ser32503Phe) c.97427C>T (p.Ser32476Phe) c.79190C>T (p.Ser26397Phe) c.69044C>T (p.Ser23015Phe) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530320G>C | CA349406272 | TTN,TTN-AS1 | c.98591C>G (p.Ser32864Cys) c.79676C>G (p.Ser26559Cys) c.79475C>G (p.Ser26492Cys) c.79100C>G (p.Ser26367Cys) c.106295C>G (p.Ser35432Cys) c.101372C>G (p.Ser33791Cys) n.446+6684G>C n.220-5412G>C c.105392C>G (p.Ser35131Cys) c.79286C>G (p.Ser26429Cys) c.79145C>G (p.Ser26382Cys) c.105188C>G (p.Ser35063Cys) c.100586C>G (p.Ser33529Cys) c.100583C>G (p.Ser33528Cys) c.97625C>G (p.Ser32542Cys) c.79241C>G (p.Ser26414Cys) c.100736C>G (p.Ser33579Cys) c.100733C>G (p.Ser33578Cys) c.100166C>G (p.Ser33389Cys) c.97508C>G (p.Ser32503Cys) c.97427C>G (p.Ser32476Cys) c.79190C>G (p.Ser26397Cys) c.69044C>G (p.Ser23015Cys) | |
2 | g.178530320G= | CA1310514513 | TTN,TTN-AS1 | c.98591C= (p.Ser32864=) c.79676C= (p.Ser26559=) c.79475C= (p.Ser26492=) c.79100C= (p.Ser26367=) c.106295C= (p.Ser35432=) c.101372C= (p.Ser33791=) n.446+6684G= n.220-5412G= c.105392C= (p.Ser35131=) c.79286C= (p.Ser26429=) c.79145C= (p.Ser26382=) c.105188C= (p.Ser35063=) c.100586C= (p.Ser33529=) c.100583C= (p.Ser33528=) c.97625C= (p.Ser32542=) c.79241C= (p.Ser26414=) c.100736C= (p.Ser33579=) c.100733C= (p.Ser33578=) c.100166C= (p.Ser33389=) c.97508C= (p.Ser32503=) c.97427C= (p.Ser32476=) c.79190C= (p.Ser26397=) c.69044C= (p.Ser23015=) | |
2 | g.178530320G>T | CA1985133 | TTN,TTN-AS1 | c.98591C>A (p.Ser32864Tyr) c.79676C>A (p.Ser26559Tyr) c.79475C>A (p.Ser26492Tyr) c.79100C>A (p.Ser26367Tyr) c.106295C>A (p.Ser35432Tyr) c.101372C>A (p.Ser33791Tyr) n.446+6684G>T n.220-5412G>T c.105392C>A (p.Ser35131Tyr) c.79286C>A (p.Ser26429Tyr) c.79145C>A (p.Ser26382Tyr) c.105188C>A (p.Ser35063Tyr) c.100586C>A (p.Ser33529Tyr) c.100583C>A (p.Ser33528Tyr) c.97625C>A (p.Ser32542Tyr) c.79241C>A (p.Ser26414Tyr) c.100736C>A (p.Ser33579Tyr) c.100733C>A (p.Ser33578Tyr) c.100166C>A (p.Ser33389Tyr) c.97508C>A (p.Ser32503Tyr) c.97427C>A (p.Ser32476Tyr) c.79190C>A (p.Ser26397Tyr) c.69044C>A (p.Ser23015Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530321A>C | CA349406277 | TTN,TTN-AS1 | c.98590T>G (p.Ser32864Ala) c.79675T>G (p.Ser26559Ala) c.79474T>G (p.Ser26492Ala) c.79099T>G (p.Ser26367Ala) c.106294T>G (p.Ser35432Ala) c.101371T>G (p.Ser33791Ala) n.446+6685A>C n.220-5411A>C c.105391T>G (p.Ser35131Ala) c.79285T>G (p.Ser26429Ala) c.79144T>G (p.Ser26382Ala) c.105187T>G (p.Ser35063Ala) c.100585T>G (p.Ser33529Ala) c.100582T>G (p.Ser33528Ala) c.97624T>G (p.Ser32542Ala) c.79240T>G (p.Ser26414Ala) c.100735T>G (p.Ser33579Ala) c.100732T>G (p.Ser33578Ala) c.100165T>G (p.Ser33389Ala) c.97507T>G (p.Ser32503Ala) c.97426T>G (p.Ser32476Ala) c.79189T>G (p.Ser26397Ala) c.69043T>G (p.Ser23015Ala) | |
2 | g.178530321A>G | CA349406280 | TTN,TTN-AS1 | c.98590T>C (p.Ser32864Pro) c.79675T>C (p.Ser26559Pro) c.79474T>C (p.Ser26492Pro) c.79099T>C (p.Ser26367Pro) c.106294T>C (p.Ser35432Pro) c.101371T>C (p.Ser33791Pro) n.446+6685A>G n.220-5411A>G c.105391T>C (p.Ser35131Pro) c.79285T>C (p.Ser26429Pro) c.79144T>C (p.Ser26382Pro) c.105187T>C (p.Ser35063Pro) c.100585T>C (p.Ser33529Pro) c.100582T>C (p.Ser33528Pro) c.97624T>C (p.Ser32542Pro) c.79240T>C (p.Ser26414Pro) c.100735T>C (p.Ser33579Pro) c.100732T>C (p.Ser33578Pro) c.100165T>C (p.Ser33389Pro) c.97507T>C (p.Ser32503Pro) c.97426T>C (p.Ser32476Pro) c.79189T>C (p.Ser26397Pro) c.69043T>C (p.Ser23015Pro) | |
2 | g.178530321A>T | CA349406281 | TTN,TTN-AS1 | c.98590T>A (p.Ser32864Thr) c.79675T>A (p.Ser26559Thr) c.79474T>A (p.Ser26492Thr) c.79099T>A (p.Ser26367Thr) c.106294T>A (p.Ser35432Thr) c.101371T>A (p.Ser33791Thr) n.446+6685A>T n.220-5411A>T c.105391T>A (p.Ser35131Thr) c.79285T>A (p.Ser26429Thr) c.79144T>A (p.Ser26382Thr) c.105187T>A (p.Ser35063Thr) c.100585T>A (p.Ser33529Thr) c.100582T>A (p.Ser33528Thr) c.97624T>A (p.Ser32542Thr) c.79240T>A (p.Ser26414Thr) c.100735T>A (p.Ser33579Thr) c.100732T>A (p.Ser33578Thr) c.100165T>A (p.Ser33389Thr) c.97507T>A (p.Ser32503Thr) c.97426T>A (p.Ser32476Thr) c.79189T>A (p.Ser26397Thr) c.69043T>A (p.Ser23015Thr) | |
2 | g.178530322A= | CA1310514514 | TTN,TTN-AS1 | c.98589T= (p.Val32863=) c.79674T= (p.Val26558=) c.79473T= (p.Val26491=) c.79098T= (p.Val26366=) c.106293T= (p.Val35431=) c.101370T= (p.Val33790=) n.446+6686A= n.220-5410A= c.105390T= (p.Val35130=) c.79284T= (p.Val26428=) c.79143T= (p.Val26381=) c.105186T= (p.Val35062=) c.100584T= (p.Val33528=) c.100581T= (p.Val33527=) c.97623T= (p.Val32541=) c.79239T= (p.Val26413=) c.100734T= (p.Val33578=) c.100731T= (p.Val33577=) c.100164T= (p.Val33388=) c.97506T= (p.Val32502=) c.97425T= (p.Val32475=) c.79188T= (p.Val26396=) c.69042T= (p.Val23014=) | |
2 | g.178530322A>C | CA430235137 | TTN,TTN-AS1 | c.98589T>G (p.Val32863=) c.79674T>G (p.Val26558=) c.79473T>G (p.Val26491=) c.79098T>G (p.Val26366=) c.106293T>G (p.Val35431=) c.101370T>G (p.Val33790=) n.446+6686A>C n.220-5410A>C c.105390T>G (p.Val35130=) c.79284T>G (p.Val26428=) c.79143T>G (p.Val26381=) c.105186T>G (p.Val35062=) c.100584T>G (p.Val33528=) c.100581T>G (p.Val33527=) c.97623T>G (p.Val32541=) c.79239T>G (p.Val26413=) c.100734T>G (p.Val33578=) c.100731T>G (p.Val33577=) c.100164T>G (p.Val33388=) c.97506T>G (p.Val32502=) c.97425T>G (p.Val32475=) c.79188T>G (p.Val26396=) c.69042T>G (p.Val23014=) | |
2 | g.178530322A>G | CA1985134 | TTN,TTN-AS1 | c.98589T>C (p.Val32863=) c.79674T>C (p.Val26558=) c.79473T>C (p.Val26491=) c.79098T>C (p.Val26366=) c.106293T>C (p.Val35431=) c.101370T>C (p.Val33790=) n.446+6686A>G n.220-5410A>G c.105390T>C (p.Val35130=) c.79284T>C (p.Val26428=) c.79143T>C (p.Val26381=) c.105186T>C (p.Val35062=) c.100584T>C (p.Val33528=) c.100581T>C (p.Val33527=) c.97623T>C (p.Val32541=) c.79239T>C (p.Val26413=) c.100734T>C (p.Val33578=) c.100731T>C (p.Val33577=) c.100164T>C (p.Val33388=) c.97506T>C (p.Val32502=) c.97425T>C (p.Val32475=) c.79188T>C (p.Val26396=) c.69042T>C (p.Val23014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530322A>T | CA430235140 | TTN,TTN-AS1 | c.98589T>A (p.Val32863=) c.79674T>A (p.Val26558=) c.79473T>A (p.Val26491=) c.79098T>A (p.Val26366=) c.106293T>A (p.Val35431=) c.101370T>A (p.Val33790=) n.446+6686A>T n.220-5410A>T c.105390T>A (p.Val35130=) c.79284T>A (p.Val26428=) c.79143T>A (p.Val26381=) c.105186T>A (p.Val35062=) c.100584T>A (p.Val33528=) c.100581T>A (p.Val33527=) c.97623T>A (p.Val32541=) c.79239T>A (p.Val26413=) c.100734T>A (p.Val33578=) c.100731T>A (p.Val33577=) c.100164T>A (p.Val33388=) c.97506T>A (p.Val32502=) c.97425T>A (p.Val32475=) c.79188T>A (p.Val26396=) c.69042T>A (p.Val23014=) | |
2 | g.178530323A= | CA1310514515 | TTN,TTN-AS1 | c.98588T= (p.Val32863=) c.79673T= (p.Val26558=) c.79472T= (p.Val26491=) c.79097T= (p.Val26366=) c.106292T= (p.Val35431=) c.101369T= (p.Val33790=) n.446+6687A= n.220-5409A= c.105389T= (p.Val35130=) c.79283T= (p.Val26428=) c.79142T= (p.Val26381=) c.105185T= (p.Val35062=) c.100583T= (p.Val33528=) c.100580T= (p.Val33527=) c.97622T= (p.Val32541=) c.79238T= (p.Val26413=) c.100733T= (p.Val33578=) c.100730T= (p.Val33577=) c.100163T= (p.Val33388=) c.97505T= (p.Val32502=) c.97424T= (p.Val32475=) c.79187T= (p.Val26396=) c.69041T= (p.Val23014=) | |
2 | g.178530323A>C | CA349406287 | TTN,TTN-AS1 | c.98588T>G (p.Val32863Gly) c.79673T>G (p.Val26558Gly) c.79472T>G (p.Val26491Gly) c.79097T>G (p.Val26366Gly) c.106292T>G (p.Val35431Gly) c.101369T>G (p.Val33790Gly) n.446+6687A>C n.220-5409A>C c.105389T>G (p.Val35130Gly) c.79283T>G (p.Val26428Gly) c.79142T>G (p.Val26381Gly) c.105185T>G (p.Val35062Gly) c.100583T>G (p.Val33528Gly) c.100580T>G (p.Val33527Gly) c.97622T>G (p.Val32541Gly) c.79238T>G (p.Val26413Gly) c.100733T>G (p.Val33578Gly) c.100730T>G (p.Val33577Gly) c.100163T>G (p.Val33388Gly) c.97505T>G (p.Val32502Gly) c.97424T>G (p.Val32475Gly) c.79187T>G (p.Val26396Gly) c.69041T>G (p.Val23014Gly) | |
2 | g.178530323A>G | CA1985135 | TTN,TTN-AS1 | c.98588T>C (p.Val32863Ala) c.79673T>C (p.Val26558Ala) c.79472T>C (p.Val26491Ala) c.79097T>C (p.Val26366Ala) c.106292T>C (p.Val35431Ala) c.101369T>C (p.Val33790Ala) n.446+6687A>G n.220-5409A>G c.105389T>C (p.Val35130Ala) c.79283T>C (p.Val26428Ala) c.79142T>C (p.Val26381Ala) c.105185T>C (p.Val35062Ala) c.100583T>C (p.Val33528Ala) c.100580T>C (p.Val33527Ala) c.97622T>C (p.Val32541Ala) c.79238T>C (p.Val26413Ala) c.100733T>C (p.Val33578Ala) c.100730T>C (p.Val33577Ala) c.100163T>C (p.Val33388Ala) c.97505T>C (p.Val32502Ala) c.97424T>C (p.Val32475Ala) c.79187T>C (p.Val26396Ala) c.69041T>C (p.Val23014Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530323A>T | CA349406291 | TTN,TTN-AS1 | c.98588T>A (p.Val32863Asp) c.79673T>A (p.Val26558Asp) c.79472T>A (p.Val26491Asp) c.79097T>A (p.Val26366Asp) c.106292T>A (p.Val35431Asp) c.101369T>A (p.Val33790Asp) n.446+6687A>T n.220-5409A>T c.105389T>A (p.Val35130Asp) c.79283T>A (p.Val26428Asp) c.79142T>A (p.Val26381Asp) c.105185T>A (p.Val35062Asp) c.100583T>A (p.Val33528Asp) c.100580T>A (p.Val33527Asp) c.97622T>A (p.Val32541Asp) c.79238T>A (p.Val26413Asp) c.100733T>A (p.Val33578Asp) c.100730T>A (p.Val33577Asp) c.100163T>A (p.Val33388Asp) c.97505T>A (p.Val32502Asp) c.97424T>A (p.Val32475Asp) c.79187T>A (p.Val26396Asp) c.69041T>A (p.Val23014Asp) | |
2 | g.178530324C>A | CA349406294 | TTN,TTN-AS1 | c.98587G>T (p.Val32863Phe) c.79672G>T (p.Val26558Phe) c.79471G>T (p.Val26491Phe) c.79096G>T (p.Val26366Phe) c.106291G>T (p.Val35431Phe) c.101368G>T (p.Val33790Phe) n.446+6688C>A n.220-5408C>A c.105388G>T (p.Val35130Phe) c.79282G>T (p.Val26428Phe) c.79141G>T (p.Val26381Phe) c.105184G>T (p.Val35062Phe) c.100582G>T (p.Val33528Phe) c.100579G>T (p.Val33527Phe) c.97621G>T (p.Val32541Phe) c.79237G>T (p.Val26413Phe) c.100732G>T (p.Val33578Phe) c.100729G>T (p.Val33577Phe) c.100162G>T (p.Val33388Phe) c.97504G>T (p.Val32502Phe) c.97423G>T (p.Val32475Phe) c.79186G>T (p.Val26396Phe) c.69040G>T (p.Val23014Phe) | |
2 | g.178530324C= | CA1310514516 | TTN,TTN-AS1 | c.98587G= (p.Val32863=) c.79672G= (p.Val26558=) c.79471G= (p.Val26491=) c.79096G= (p.Val26366=) c.106291G= (p.Val35431=) c.101368G= (p.Val33790=) n.446+6688C= n.220-5408C= c.105388G= (p.Val35130=) c.79282G= (p.Val26428=) c.79141G= (p.Val26381=) c.105184G= (p.Val35062=) c.100582G= (p.Val33528=) c.100579G= (p.Val33527=) c.97621G= (p.Val32541=) c.79237G= (p.Val26413=) c.100732G= (p.Val33578=) c.100729G= (p.Val33577=) c.100162G= (p.Val33388=) c.97504G= (p.Val32502=) c.97423G= (p.Val32475=) c.79186G= (p.Val26396=) c.69040G= (p.Val23014=) | |
2 | g.178530324C>G | CA1985136 | TTN,TTN-AS1 | c.98587G>C (p.Val32863Leu) c.79672G>C (p.Val26558Leu) c.79471G>C (p.Val26491Leu) c.79096G>C (p.Val26366Leu) c.106291G>C (p.Val35431Leu) c.101368G>C (p.Val33790Leu) n.446+6688C>G n.220-5408C>G c.105388G>C (p.Val35130Leu) c.79282G>C (p.Val26428Leu) c.79141G>C (p.Val26381Leu) c.105184G>C (p.Val35062Leu) c.100582G>C (p.Val33528Leu) c.100579G>C (p.Val33527Leu) c.97621G>C (p.Val32541Leu) c.79237G>C (p.Val26413Leu) c.100732G>C (p.Val33578Leu) c.100729G>C (p.Val33577Leu) c.100162G>C (p.Val33388Leu) c.97504G>C (p.Val32502Leu) c.97423G>C (p.Val32475Leu) c.79186G>C (p.Val26396Leu) c.69040G>C (p.Val23014Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530324C>T | CA349406295 | TTN,TTN-AS1 | c.98587G>A (p.Val32863Ile) c.79672G>A (p.Val26558Ile) c.79471G>A (p.Val26491Ile) c.79096G>A (p.Val26366Ile) c.106291G>A (p.Val35431Ile) c.101368G>A (p.Val33790Ile) n.446+6688C>T n.220-5408C>T c.105388G>A (p.Val35130Ile) c.79282G>A (p.Val26428Ile) c.79141G>A (p.Val26381Ile) c.105184G>A (p.Val35062Ile) c.100582G>A (p.Val33528Ile) c.100579G>A (p.Val33527Ile) c.97621G>A (p.Val32541Ile) c.79237G>A (p.Val26413Ile) c.100732G>A (p.Val33578Ile) c.100729G>A (p.Val33577Ile) c.100162G>A (p.Val33388Ile) c.97504G>A (p.Val32502Ile) c.97423G>A (p.Val32475Ile) c.79186G>A (p.Val26396Ile) c.69040G>A (p.Val23014Ile) | |
2 | g.178530325A>C | CA430235144 | TTN,TTN-AS1 | c.98586T>G (p.Thr32862=) c.79671T>G (p.Thr26557=) c.79470T>G (p.Thr26490=) c.79095T>G (p.Thr26365=) c.106290T>G (p.Thr35430=) c.101367T>G (p.Thr33789=) n.446+6689A>C n.220-5407A>C c.105387T>G (p.Thr35129=) c.79281T>G (p.Thr26427=) c.79140T>G (p.Thr26380=) c.105183T>G (p.Thr35061=) c.100581T>G (p.Thr33527=) c.100578T>G (p.Thr33526=) c.97620T>G (p.Thr32540=) c.79236T>G (p.Thr26412=) c.100731T>G (p.Thr33577=) c.100728T>G (p.Thr33576=) c.100161T>G (p.Thr33387=) c.97503T>G (p.Thr32501=) c.97422T>G (p.Thr32474=) c.79185T>G (p.Thr26395=) c.69039T>G (p.Thr23013=) | |
2 | g.178530325A>G | CA430235145 | TTN,TTN-AS1 | c.98586T>C (p.Thr32862=) c.79671T>C (p.Thr26557=) c.79470T>C (p.Thr26490=) c.79095T>C (p.Thr26365=) c.106290T>C (p.Thr35430=) c.101367T>C (p.Thr33789=) n.446+6689A>G n.220-5407A>G c.105387T>C (p.Thr35129=) c.79281T>C (p.Thr26427=) c.79140T>C (p.Thr26380=) c.105183T>C (p.Thr35061=) c.100581T>C (p.Thr33527=) c.100578T>C (p.Thr33526=) c.97620T>C (p.Thr32540=) c.79236T>C (p.Thr26412=) c.100731T>C (p.Thr33577=) c.100728T>C (p.Thr33576=) c.100161T>C (p.Thr33387=) c.97503T>C (p.Thr32501=) c.97422T>C (p.Thr32474=) c.79185T>C (p.Thr26395=) c.69039T>C (p.Thr23013=) | |
2 | g.178530325A>T | CA430235142 | TTN,TTN-AS1 | c.98586T>A (p.Thr32862=) c.79671T>A (p.Thr26557=) c.79470T>A (p.Thr26490=) c.79095T>A (p.Thr26365=) c.106290T>A (p.Thr35430=) c.101367T>A (p.Thr33789=) n.446+6689A>T n.220-5407A>T c.105387T>A (p.Thr35129=) c.79281T>A (p.Thr26427=) c.79140T>A (p.Thr26380=) c.105183T>A (p.Thr35061=) c.100581T>A (p.Thr33527=) c.100578T>A (p.Thr33526=) c.97620T>A (p.Thr32540=) c.79236T>A (p.Thr26412=) c.100731T>A (p.Thr33577=) c.100728T>A (p.Thr33576=) c.100161T>A (p.Thr33387=) c.97503T>A (p.Thr32501=) c.97422T>A (p.Thr32474=) c.79185T>A (p.Thr26395=) c.69039T>A (p.Thr23013=) | |
2 | g.178530326G>A | CA349406297 | TTN,TTN-AS1 | c.98585C>T (p.Thr32862Ile) c.79670C>T (p.Thr26557Ile) c.79469C>T (p.Thr26490Ile) c.79094C>T (p.Thr26365Ile) c.106289C>T (p.Thr35430Ile) c.101366C>T (p.Thr33789Ile) n.446+6690G>A n.220-5406G>A c.105386C>T (p.Thr35129Ile) c.79280C>T (p.Thr26427Ile) c.79139C>T (p.Thr26380Ile) c.105182C>T (p.Thr35061Ile) c.100580C>T (p.Thr33527Ile) c.100577C>T (p.Thr33526Ile) c.97619C>T (p.Thr32540Ile) c.79235C>T (p.Thr26412Ile) c.100730C>T (p.Thr33577Ile) c.100727C>T (p.Thr33576Ile) c.100160C>T (p.Thr33387Ile) c.97502C>T (p.Thr32501Ile) c.97421C>T (p.Thr32474Ile) c.79184C>T (p.Thr26395Ile) c.69038C>T (p.Thr23013Ile) | gnomAD v4 |
2 | g.178530326G>C | CA349406298 | TTN,TTN-AS1 | c.98585C>G (p.Thr32862Ser) c.79670C>G (p.Thr26557Ser) c.79469C>G (p.Thr26490Ser) c.79094C>G (p.Thr26365Ser) c.106289C>G (p.Thr35430Ser) c.101366C>G (p.Thr33789Ser) n.446+6690G>C n.220-5406G>C c.105386C>G (p.Thr35129Ser) c.79280C>G (p.Thr26427Ser) c.79139C>G (p.Thr26380Ser) c.105182C>G (p.Thr35061Ser) c.100580C>G (p.Thr33527Ser) c.100577C>G (p.Thr33526Ser) c.97619C>G (p.Thr32540Ser) c.79235C>G (p.Thr26412Ser) c.100730C>G (p.Thr33577Ser) c.100727C>G (p.Thr33576Ser) c.100160C>G (p.Thr33387Ser) c.97502C>G (p.Thr32501Ser) c.97421C>G (p.Thr32474Ser) c.79184C>G (p.Thr26395Ser) c.69038C>G (p.Thr23013Ser) | gnomAD v4 |
2 | g.178530326G>T | CA349406300 | TTN,TTN-AS1 | c.98585C>A (p.Thr32862Asn) c.79670C>A (p.Thr26557Asn) c.79469C>A (p.Thr26490Asn) c.79094C>A (p.Thr26365Asn) c.106289C>A (p.Thr35430Asn) c.101366C>A (p.Thr33789Asn) n.446+6690G>T n.220-5406G>T c.105386C>A (p.Thr35129Asn) c.79280C>A (p.Thr26427Asn) c.79139C>A (p.Thr26380Asn) c.105182C>A (p.Thr35061Asn) c.100580C>A (p.Thr33527Asn) c.100577C>A (p.Thr33526Asn) c.97619C>A (p.Thr32540Asn) c.79235C>A (p.Thr26412Asn) c.100730C>A (p.Thr33577Asn) c.100727C>A (p.Thr33576Asn) c.100160C>A (p.Thr33387Asn) c.97502C>A (p.Thr32501Asn) c.97421C>A (p.Thr32474Asn) c.79184C>A (p.Thr26395Asn) c.69038C>A (p.Thr23013Asn) | ClinVar |
2 | g.178530327T>A | CA349406304 | TTN,TTN-AS1 | c.98584A>T (p.Thr32862Ser) c.79669A>T (p.Thr26557Ser) c.79468A>T (p.Thr26490Ser) c.79093A>T (p.Thr26365Ser) c.106288A>T (p.Thr35430Ser) c.101365A>T (p.Thr33789Ser) n.446+6691T>A n.220-5405T>A c.105385A>T (p.Thr35129Ser) c.79279A>T (p.Thr26427Ser) c.79138A>T (p.Thr26380Ser) c.105181A>T (p.Thr35061Ser) c.100579A>T (p.Thr33527Ser) c.100576A>T (p.Thr33526Ser) c.97618A>T (p.Thr32540Ser) c.79234A>T (p.Thr26412Ser) c.100729A>T (p.Thr33577Ser) c.100726A>T (p.Thr33576Ser) c.100159A>T (p.Thr33387Ser) c.97501A>T (p.Thr32501Ser) c.97420A>T (p.Thr32474Ser) c.79183A>T (p.Thr26395Ser) c.69037A>T (p.Thr23013Ser) | |
2 | g.178530327T>C | CA349406308 | TTN,TTN-AS1 | c.98584A>G (p.Thr32862Ala) c.79669A>G (p.Thr26557Ala) c.79468A>G (p.Thr26490Ala) c.79093A>G (p.Thr26365Ala) c.106288A>G (p.Thr35430Ala) c.101365A>G (p.Thr33789Ala) n.446+6691T>C n.220-5405T>C c.105385A>G (p.Thr35129Ala) c.79279A>G (p.Thr26427Ala) c.79138A>G (p.Thr26380Ala) c.105181A>G (p.Thr35061Ala) c.100579A>G (p.Thr33527Ala) c.100576A>G (p.Thr33526Ala) c.97618A>G (p.Thr32540Ala) c.79234A>G (p.Thr26412Ala) c.100729A>G (p.Thr33577Ala) c.100726A>G (p.Thr33576Ala) c.100159A>G (p.Thr33387Ala) c.97501A>G (p.Thr32501Ala) c.97420A>G (p.Thr32474Ala) c.79183A>G (p.Thr26395Ala) c.69037A>G (p.Thr23013Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530327T>G | CA349406306 | TTN,TTN-AS1 | c.98584A>C (p.Thr32862Pro) c.79669A>C (p.Thr26557Pro) c.79468A>C (p.Thr26490Pro) c.79093A>C (p.Thr26365Pro) c.106288A>C (p.Thr35430Pro) c.101365A>C (p.Thr33789Pro) n.446+6691T>G n.220-5405T>G c.105385A>C (p.Thr35129Pro) c.79279A>C (p.Thr26427Pro) c.79138A>C (p.Thr26380Pro) c.105181A>C (p.Thr35061Pro) c.100579A>C (p.Thr33527Pro) c.100576A>C (p.Thr33526Pro) c.97618A>C (p.Thr32540Pro) c.79234A>C (p.Thr26412Pro) c.100729A>C (p.Thr33577Pro) c.100726A>C (p.Thr33576Pro) c.100159A>C (p.Thr33387Pro) c.97501A>C (p.Thr32501Pro) c.97420A>C (p.Thr32474Pro) c.79183A>C (p.Thr26395Pro) c.69037A>C (p.Thr23013Pro) | |
2 | g.178530327T= | CA1310514517 | TTN,TTN-AS1 | c.98584A= (p.Thr32862=) c.79669A= (p.Thr26557=) c.79468A= (p.Thr26490=) c.79093A= (p.Thr26365=) c.106288A= (p.Thr35430=) c.101365A= (p.Thr33789=) n.446+6691T= n.220-5405T= c.105385A= (p.Thr35129=) c.79279A= (p.Thr26427=) c.79138A= (p.Thr26380=) c.105181A= (p.Thr35061=) c.100579A= (p.Thr33527=) c.100576A= (p.Thr33526=) c.97618A= (p.Thr32540=) c.79234A= (p.Thr26412=) c.100729A= (p.Thr33577=) c.100726A= (p.Thr33576=) c.100159A= (p.Thr33387=) c.97501A= (p.Thr32501=) c.97420A= (p.Thr32474=) c.79183A= (p.Thr26395=) c.69037A= (p.Thr23013=) | |
2 | g.178530328T>A | CA430235153 | TTN,TTN-AS1 | c.98583A>T (p.Thr32861=) c.79668A>T (p.Thr26556=) c.79467A>T (p.Thr26489=) c.79092A>T (p.Thr26364=) c.106287A>T (p.Thr35429=) c.101364A>T (p.Thr33788=) n.446+6692T>A n.220-5404T>A c.105384A>T (p.Thr35128=) c.79278A>T (p.Thr26426=) c.79137A>T (p.Thr26379=) c.105180A>T (p.Thr35060=) c.100578A>T (p.Thr33526=) c.100575A>T (p.Thr33525=) c.97617A>T (p.Thr32539=) c.79233A>T (p.Thr26411=) c.100728A>T (p.Thr33576=) c.100725A>T (p.Thr33575=) c.100158A>T (p.Thr33386=) c.97500A>T (p.Thr32500=) c.97419A>T (p.Thr32473=) c.79182A>T (p.Thr26394=) c.69036A>T (p.Thr23012=) | |
2 | g.178530328T>C | CA430235151 | TTN,TTN-AS1 | c.98583A>G (p.Thr32861=) c.79668A>G (p.Thr26556=) c.79467A>G (p.Thr26489=) c.79092A>G (p.Thr26364=) c.106287A>G (p.Thr35429=) c.101364A>G (p.Thr33788=) n.446+6692T>C n.220-5404T>C c.105384A>G (p.Thr35128=) c.79278A>G (p.Thr26426=) c.79137A>G (p.Thr26379=) c.105180A>G (p.Thr35060=) c.100578A>G (p.Thr33526=) c.100575A>G (p.Thr33525=) c.97617A>G (p.Thr32539=) c.79233A>G (p.Thr26411=) c.100728A>G (p.Thr33576=) c.100725A>G (p.Thr33575=) c.100158A>G (p.Thr33386=) c.97500A>G (p.Thr32500=) c.97419A>G (p.Thr32473=) c.79182A>G (p.Thr26394=) c.69036A>G (p.Thr23012=) | |
2 | g.178530328T>G | CA430235150 | TTN,TTN-AS1 | c.98583A>C (p.Thr32861=) c.79668A>C (p.Thr26556=) c.79467A>C (p.Thr26489=) c.79092A>C (p.Thr26364=) c.106287A>C (p.Thr35429=) c.101364A>C (p.Thr33788=) n.446+6692T>G n.220-5404T>G c.105384A>C (p.Thr35128=) c.79278A>C (p.Thr26426=) c.79137A>C (p.Thr26379=) c.105180A>C (p.Thr35060=) c.100578A>C (p.Thr33526=) c.100575A>C (p.Thr33525=) c.97617A>C (p.Thr32539=) c.79233A>C (p.Thr26411=) c.100728A>C (p.Thr33576=) c.100725A>C (p.Thr33575=) c.100158A>C (p.Thr33386=) c.97500A>C (p.Thr32500=) c.97419A>C (p.Thr32473=) c.79182A>C (p.Thr26394=) c.69036A>C (p.Thr23012=) | |
2 | g.178530329G>A | CA349406310 | TTN,TTN-AS1 | c.98582C>T (p.Thr32861Ile) c.79667C>T (p.Thr26556Ile) c.79466C>T (p.Thr26489Ile) c.79091C>T (p.Thr26364Ile) c.106286C>T (p.Thr35429Ile) c.101363C>T (p.Thr33788Ile) n.446+6693G>A n.220-5403G>A c.105383C>T (p.Thr35128Ile) c.79277C>T (p.Thr26426Ile) c.79136C>T (p.Thr26379Ile) c.105179C>T (p.Thr35060Ile) c.100577C>T (p.Thr33526Ile) c.100574C>T (p.Thr33525Ile) c.97616C>T (p.Thr32539Ile) c.79232C>T (p.Thr26411Ile) c.100727C>T (p.Thr33576Ile) c.100724C>T (p.Thr33575Ile) c.100157C>T (p.Thr33386Ile) c.97499C>T (p.Thr32500Ile) c.97418C>T (p.Thr32473Ile) c.79181C>T (p.Thr26394Ile) c.69035C>T (p.Thr23012Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530329G>C | CA349406312 | TTN,TTN-AS1 | c.98582C>G (p.Thr32861Arg) c.79667C>G (p.Thr26556Arg) c.79466C>G (p.Thr26489Arg) c.79091C>G (p.Thr26364Arg) c.106286C>G (p.Thr35429Arg) c.101363C>G (p.Thr33788Arg) n.446+6693G>C n.220-5403G>C c.105383C>G (p.Thr35128Arg) c.79277C>G (p.Thr26426Arg) c.79136C>G (p.Thr26379Arg) c.105179C>G (p.Thr35060Arg) c.100577C>G (p.Thr33526Arg) c.100574C>G (p.Thr33525Arg) c.97616C>G (p.Thr32539Arg) c.79232C>G (p.Thr26411Arg) c.100727C>G (p.Thr33576Arg) c.100724C>G (p.Thr33575Arg) c.100157C>G (p.Thr33386Arg) c.97499C>G (p.Thr32500Arg) c.97418C>G (p.Thr32473Arg) c.79181C>G (p.Thr26394Arg) c.69035C>G (p.Thr23012Arg) | |
2 | g.178530329G= | CA1310514518 | TTN,TTN-AS1 | c.98582C= (p.Thr32861=) c.79667C= (p.Thr26556=) c.79466C= (p.Thr26489=) c.79091C= (p.Thr26364=) c.106286C= (p.Thr35429=) c.101363C= (p.Thr33788=) n.446+6693G= n.220-5403G= c.105383C= (p.Thr35128=) c.79277C= (p.Thr26426=) c.79136C= (p.Thr26379=) c.105179C= (p.Thr35060=) c.100577C= (p.Thr33526=) c.100574C= (p.Thr33525=) c.97616C= (p.Thr32539=) c.79232C= (p.Thr26411=) c.100727C= (p.Thr33576=) c.100724C= (p.Thr33575=) c.100157C= (p.Thr33386=) c.97499C= (p.Thr32500=) c.97418C= (p.Thr32473=) c.79181C= (p.Thr26394=) c.69035C= (p.Thr23012=) | |
2 | g.178530329G>T | CA349406313 | TTN,TTN-AS1 | c.98582C>A (p.Thr32861Lys) c.79667C>A (p.Thr26556Lys) c.79466C>A (p.Thr26489Lys) c.79091C>A (p.Thr26364Lys) c.106286C>A (p.Thr35429Lys) c.101363C>A (p.Thr33788Lys) n.446+6693G>T n.220-5403G>T c.105383C>A (p.Thr35128Lys) c.79277C>A (p.Thr26426Lys) c.79136C>A (p.Thr26379Lys) c.105179C>A (p.Thr35060Lys) c.100577C>A (p.Thr33526Lys) c.100574C>A (p.Thr33525Lys) c.97616C>A (p.Thr32539Lys) c.79232C>A (p.Thr26411Lys) c.100727C>A (p.Thr33576Lys) c.100724C>A (p.Thr33575Lys) c.100157C>A (p.Thr33386Lys) c.97499C>A (p.Thr32500Lys) c.97418C>A (p.Thr32473Lys) c.79181C>A (p.Thr26394Lys) c.69035C>A (p.Thr23012Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530330T>A | CA60953294 | TTN,TTN-AS1 | c.98581A>T (p.Thr32861Ser) c.79666A>T (p.Thr26556Ser) c.79465A>T (p.Thr26489Ser) c.79090A>T (p.Thr26364Ser) c.106285A>T (p.Thr35429Ser) c.101362A>T (p.Thr33788Ser) n.446+6694T>A n.220-5402T>A c.105382A>T (p.Thr35128Ser) c.79276A>T (p.Thr26426Ser) c.79135A>T (p.Thr26379Ser) c.105178A>T (p.Thr35060Ser) c.100576A>T (p.Thr33526Ser) c.100573A>T (p.Thr33525Ser) c.97615A>T (p.Thr32539Ser) c.79231A>T (p.Thr26411Ser) c.100726A>T (p.Thr33576Ser) c.100723A>T (p.Thr33575Ser) c.100156A>T (p.Thr33386Ser) c.97498A>T (p.Thr32500Ser) c.97417A>T (p.Thr32473Ser) c.79180A>T (p.Thr26394Ser) c.69034A>T (p.Thr23012Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530330T>C | CA349406316 | TTN,TTN-AS1 | c.98581A>G (p.Thr32861Ala) c.79666A>G (p.Thr26556Ala) c.79465A>G (p.Thr26489Ala) c.79090A>G (p.Thr26364Ala) c.106285A>G (p.Thr35429Ala) c.101362A>G (p.Thr33788Ala) n.446+6694T>C n.220-5402T>C c.105382A>G (p.Thr35128Ala) c.79276A>G (p.Thr26426Ala) c.79135A>G (p.Thr26379Ala) c.105178A>G (p.Thr35060Ala) c.100576A>G (p.Thr33526Ala) c.100573A>G (p.Thr33525Ala) c.97615A>G (p.Thr32539Ala) c.79231A>G (p.Thr26411Ala) c.100726A>G (p.Thr33576Ala) c.100723A>G (p.Thr33575Ala) c.100156A>G (p.Thr33386Ala) c.97498A>G (p.Thr32500Ala) c.97417A>G (p.Thr32473Ala) c.79180A>G (p.Thr26394Ala) c.69034A>G (p.Thr23012Ala) | gnomAD v4 |
2 | g.178530330T>G | CA349406317 | TTN,TTN-AS1 | c.98581A>C (p.Thr32861Pro) c.79666A>C (p.Thr26556Pro) c.79465A>C (p.Thr26489Pro) c.79090A>C (p.Thr26364Pro) c.106285A>C (p.Thr35429Pro) c.101362A>C (p.Thr33788Pro) n.446+6694T>G n.220-5402T>G c.105382A>C (p.Thr35128Pro) c.79276A>C (p.Thr26426Pro) c.79135A>C (p.Thr26379Pro) c.105178A>C (p.Thr35060Pro) c.100576A>C (p.Thr33526Pro) c.100573A>C (p.Thr33525Pro) c.97615A>C (p.Thr32539Pro) c.79231A>C (p.Thr26411Pro) c.100726A>C (p.Thr33576Pro) c.100723A>C (p.Thr33575Pro) c.100156A>C (p.Thr33386Pro) c.97498A>C (p.Thr32500Pro) c.97417A>C (p.Thr32473Pro) c.79180A>C (p.Thr26394Pro) c.69034A>C (p.Thr23012Pro) | |
2 | g.178530330T= | CA1310514519 | TTN,TTN-AS1 | c.98581A= (p.Thr32861=) c.79666A= (p.Thr26556=) c.79465A= (p.Thr26489=) c.79090A= (p.Thr26364=) c.106285A= (p.Thr35429=) c.101362A= (p.Thr33788=) n.446+6694T= n.220-5402T= c.105382A= (p.Thr35128=) c.79276A= (p.Thr26426=) c.79135A= (p.Thr26379=) c.105178A= (p.Thr35060=) c.100576A= (p.Thr33526=) c.100573A= (p.Thr33525=) c.97615A= (p.Thr32539=) c.79231A= (p.Thr26411=) c.100726A= (p.Thr33576=) c.100723A= (p.Thr33575=) c.100156A= (p.Thr33386=) c.97498A= (p.Thr32500=) c.97417A= (p.Thr32473=) c.79180A= (p.Thr26394=) c.69034A= (p.Thr23012=) | |
2 | g.178530331A>C | CA349406319 | TTN,TTN-AS1 | c.98580T>G (p.Asp32860Glu) c.79665T>G (p.Asp26555Glu) c.79464T>G (p.Asp26488Glu) c.79089T>G (p.Asp26363Glu) c.106284T>G (p.Asp35428Glu) c.101361T>G (p.Asp33787Glu) n.446+6695A>C n.220-5401A>C c.105381T>G (p.Asp35127Glu) c.79275T>G (p.Asp26425Glu) c.79134T>G (p.Asp26378Glu) c.105177T>G (p.Asp35059Glu) c.100575T>G (p.Asp33525Glu) c.100572T>G (p.Asp33524Glu) c.97614T>G (p.Asp32538Glu) c.79230T>G (p.Asp26410Glu) c.100725T>G (p.Asp33575Glu) c.100722T>G (p.Asp33574Glu) c.100155T>G (p.Asp33385Glu) c.97497T>G (p.Asp32499Glu) c.97416T>G (p.Asp32472Glu) c.79179T>G (p.Asp26393Glu) c.69033T>G (p.Asp23011Glu) | |
2 | g.178530331A>G | CA430235158 | TTN,TTN-AS1 | c.98580T>C (p.Asp32860=) c.79665T>C (p.Asp26555=) c.79464T>C (p.Asp26488=) c.79089T>C (p.Asp26363=) c.106284T>C (p.Asp35428=) c.101361T>C (p.Asp33787=) n.446+6695A>G n.220-5401A>G c.105381T>C (p.Asp35127=) c.79275T>C (p.Asp26425=) c.79134T>C (p.Asp26378=) c.105177T>C (p.Asp35059=) c.100575T>C (p.Asp33525=) c.100572T>C (p.Asp33524=) c.97614T>C (p.Asp32538=) c.79230T>C (p.Asp26410=) c.100725T>C (p.Asp33575=) c.100722T>C (p.Asp33574=) c.100155T>C (p.Asp33385=) c.97497T>C (p.Asp32499=) c.97416T>C (p.Asp32472=) c.79179T>C (p.Asp26393=) c.69033T>C (p.Asp23011=) | |
2 | g.178530331A>T | CA349406320 | TTN,TTN-AS1 | c.98580T>A (p.Asp32860Glu) c.79665T>A (p.Asp26555Glu) c.79464T>A (p.Asp26488Glu) c.79089T>A (p.Asp26363Glu) c.106284T>A (p.Asp35428Glu) c.101361T>A (p.Asp33787Glu) n.446+6695A>T n.220-5401A>T c.105381T>A (p.Asp35127Glu) c.79275T>A (p.Asp26425Glu) c.79134T>A (p.Asp26378Glu) c.105177T>A (p.Asp35059Glu) c.100575T>A (p.Asp33525Glu) c.100572T>A (p.Asp33524Glu) c.97614T>A (p.Asp32538Glu) c.79230T>A (p.Asp26410Glu) c.100725T>A (p.Asp33575Glu) c.100722T>A (p.Asp33574Glu) c.100155T>A (p.Asp33385Glu) c.97497T>A (p.Asp32499Glu) c.97416T>A (p.Asp32472Glu) c.79179T>A (p.Asp26393Glu) c.69033T>A (p.Asp23011Glu) | |
2 | g.178530332T>A | CA1985137 | TTN,TTN-AS1 | c.98579A>T (p.Asp32860Val) c.79664A>T (p.Asp26555Val) c.79463A>T (p.Asp26488Val) c.79088A>T (p.Asp26363Val) c.106283A>T (p.Asp35428Val) c.101360A>T (p.Asp33787Val) n.446+6696T>A n.220-5400T>A c.105380A>T (p.Asp35127Val) c.79274A>T (p.Asp26425Val) c.79133A>T (p.Asp26378Val) c.105176A>T (p.Asp35059Val) c.100574A>T (p.Asp33525Val) c.100571A>T (p.Asp33524Val) c.97613A>T (p.Asp32538Val) c.79229A>T (p.Asp26410Val) c.100724A>T (p.Asp33575Val) c.100721A>T (p.Asp33574Val) c.100154A>T (p.Asp33385Val) c.97496A>T (p.Asp32499Val) c.97415A>T (p.Asp32472Val) c.79178A>T (p.Asp26393Val) c.69032A>T (p.Asp23011Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530332T>C | CA349406323 | TTN,TTN-AS1 | c.98579A>G (p.Asp32860Gly) c.79664A>G (p.Asp26555Gly) c.79463A>G (p.Asp26488Gly) c.79088A>G (p.Asp26363Gly) c.106283A>G (p.Asp35428Gly) c.101360A>G (p.Asp33787Gly) n.446+6696T>C n.220-5400T>C c.105380A>G (p.Asp35127Gly) c.79274A>G (p.Asp26425Gly) c.79133A>G (p.Asp26378Gly) c.105176A>G (p.Asp35059Gly) c.100574A>G (p.Asp33525Gly) c.100571A>G (p.Asp33524Gly) c.97613A>G (p.Asp32538Gly) c.79229A>G (p.Asp26410Gly) c.100724A>G (p.Asp33575Gly) c.100721A>G (p.Asp33574Gly) c.100154A>G (p.Asp33385Gly) c.97496A>G (p.Asp32499Gly) c.97415A>G (p.Asp32472Gly) c.79178A>G (p.Asp26393Gly) c.69032A>G (p.Asp23011Gly) | |
2 | g.178530332T>G | CA349406325 | TTN,TTN-AS1 | c.98579A>C (p.Asp32860Ala) c.79664A>C (p.Asp26555Ala) c.79463A>C (p.Asp26488Ala) c.79088A>C (p.Asp26363Ala) c.106283A>C (p.Asp35428Ala) c.101360A>C (p.Asp33787Ala) n.446+6696T>G n.220-5400T>G c.105380A>C (p.Asp35127Ala) c.79274A>C (p.Asp26425Ala) c.79133A>C (p.Asp26378Ala) c.105176A>C (p.Asp35059Ala) c.100574A>C (p.Asp33525Ala) c.100571A>C (p.Asp33524Ala) c.97613A>C (p.Asp32538Ala) c.79229A>C (p.Asp26410Ala) c.100724A>C (p.Asp33575Ala) c.100721A>C (p.Asp33574Ala) c.100154A>C (p.Asp33385Ala) c.97496A>C (p.Asp32499Ala) c.97415A>C (p.Asp32472Ala) c.79178A>C (p.Asp26393Ala) c.69032A>C (p.Asp23011Ala) | |
2 | g.178530332T= | CA1310514520 | TTN,TTN-AS1 | c.98579A= (p.Asp32860=) c.79664A= (p.Asp26555=) c.79463A= (p.Asp26488=) c.79088A= (p.Asp26363=) c.106283A= (p.Asp35428=) c.101360A= (p.Asp33787=) n.446+6696T= n.220-5400T= c.105380A= (p.Asp35127=) c.79274A= (p.Asp26425=) c.79133A= (p.Asp26378=) c.105176A= (p.Asp35059=) c.100574A= (p.Asp33525=) c.100571A= (p.Asp33524=) c.97613A= (p.Asp32538=) c.79229A= (p.Asp26410=) c.100724A= (p.Asp33575=) c.100721A= (p.Asp33574=) c.100154A= (p.Asp33385=) c.97496A= (p.Asp32499=) c.97415A= (p.Asp32472=) c.79178A= (p.Asp26393=) c.69032A= (p.Asp23011=) | |
2 | g.178530333C>A | CA349406328 | TTN,TTN-AS1 | c.98578G>T (p.Asp32860Tyr) c.79663G>T (p.Asp26555Tyr) c.79462G>T (p.Asp26488Tyr) c.79087G>T (p.Asp26363Tyr) c.106282G>T (p.Asp35428Tyr) c.101359G>T (p.Asp33787Tyr) n.446+6697C>A n.220-5399C>A c.105379G>T (p.Asp35127Tyr) c.79273G>T (p.Asp26425Tyr) c.79132G>T (p.Asp26378Tyr) c.105175G>T (p.Asp35059Tyr) c.100573G>T (p.Asp33525Tyr) c.100570G>T (p.Asp33524Tyr) c.97612G>T (p.Asp32538Tyr) c.79228G>T (p.Asp26410Tyr) c.100723G>T (p.Asp33575Tyr) c.100720G>T (p.Asp33574Tyr) c.100153G>T (p.Asp33385Tyr) c.97495G>T (p.Asp32499Tyr) c.97414G>T (p.Asp32472Tyr) c.79177G>T (p.Asp26393Tyr) c.69031G>T (p.Asp23011Tyr) | |
2 | g.178530333C>G | CA349406330 | TTN,TTN-AS1 | c.98578G>C (p.Asp32860His) c.79663G>C (p.Asp26555His) c.79462G>C (p.Asp26488His) c.79087G>C (p.Asp26363His) c.106282G>C (p.Asp35428His) c.101359G>C (p.Asp33787His) n.446+6697C>G n.220-5399C>G c.105379G>C (p.Asp35127His) c.79273G>C (p.Asp26425His) c.79132G>C (p.Asp26378His) c.105175G>C (p.Asp35059His) c.100573G>C (p.Asp33525His) c.100570G>C (p.Asp33524His) c.97612G>C (p.Asp32538His) c.79228G>C (p.Asp26410His) c.100723G>C (p.Asp33575His) c.100720G>C (p.Asp33574His) c.100153G>C (p.Asp33385His) c.97495G>C (p.Asp32499His) c.97414G>C (p.Asp32472His) c.79177G>C (p.Asp26393His) c.69031G>C (p.Asp23011His) | |
2 | g.178530333C>T | CA349406327 | TTN,TTN-AS1 | c.98578G>A (p.Asp32860Asn) c.79663G>A (p.Asp26555Asn) c.79462G>A (p.Asp26488Asn) c.79087G>A (p.Asp26363Asn) c.106282G>A (p.Asp35428Asn) c.101359G>A (p.Asp33787Asn) n.446+6697C>T n.220-5399C>T c.105379G>A (p.Asp35127Asn) c.79273G>A (p.Asp26425Asn) c.79132G>A (p.Asp26378Asn) c.105175G>A (p.Asp35059Asn) c.100573G>A (p.Asp33525Asn) c.100570G>A (p.Asp33524Asn) c.97612G>A (p.Asp32538Asn) c.79228G>A (p.Asp26410Asn) c.100723G>A (p.Asp33575Asn) c.100720G>A (p.Asp33574Asn) c.100153G>A (p.Asp33385Asn) c.97495G>A (p.Asp32499Asn) c.97414G>A (p.Asp32472Asn) c.79177G>A (p.Asp26393Asn) c.69031G>A (p.Asp23011Asn) | |
2 | g.178530334C>A | CA349406333 | TTN,TTN-AS1 | c.98577G>T (p.Gln32859His) c.79662G>T (p.Gln26554His) c.79461G>T (p.Gln26487His) c.79086G>T (p.Gln26362His) c.106281G>T (p.Gln35427His) c.101358G>T (p.Gln33786His) n.446+6698C>A n.220-5398C>A c.105378G>T (p.Gln35126His) c.79272G>T (p.Gln26424His) c.79131G>T (p.Gln26377His) c.105174G>T (p.Gln35058His) c.100572G>T (p.Gln33524His) c.100569G>T (p.Gln33523His) c.97611G>T (p.Gln32537His) c.79227G>T (p.Gln26409His) c.100722G>T (p.Gln33574His) c.100719G>T (p.Gln33573His) c.100152G>T (p.Gln33384His) c.97494G>T (p.Gln32498His) c.97413G>T (p.Gln32471His) c.79176G>T (p.Gln26392His) c.69030G>T (p.Gln23010His) | |
2 | g.178530334C>G | CA349406331 | TTN,TTN-AS1 | c.98577G>C (p.Gln32859His) c.79662G>C (p.Gln26554His) c.79461G>C (p.Gln26487His) c.79086G>C (p.Gln26362His) c.106281G>C (p.Gln35427His) c.101358G>C (p.Gln33786His) n.446+6698C>G n.220-5398C>G c.105378G>C (p.Gln35126His) c.79272G>C (p.Gln26424His) c.79131G>C (p.Gln26377His) c.105174G>C (p.Gln35058His) c.100572G>C (p.Gln33524His) c.100569G>C (p.Gln33523His) c.97611G>C (p.Gln32537His) c.79227G>C (p.Gln26409His) c.100722G>C (p.Gln33574His) c.100719G>C (p.Gln33573His) c.100152G>C (p.Gln33384His) c.97494G>C (p.Gln32498His) c.97413G>C (p.Gln32471His) c.79176G>C (p.Gln26392His) c.69030G>C (p.Gln23010His) | |
2 | g.178530334C>T | CA430235164 | TTN,TTN-AS1 | c.98577G>A (p.Gln32859=) c.79662G>A (p.Gln26554=) c.79461G>A (p.Gln26487=) c.79086G>A (p.Gln26362=) c.106281G>A (p.Gln35427=) c.101358G>A (p.Gln33786=) n.446+6698C>T n.220-5398C>T c.105378G>A (p.Gln35126=) c.79272G>A (p.Gln26424=) c.79131G>A (p.Gln26377=) c.105174G>A (p.Gln35058=) c.100572G>A (p.Gln33524=) c.100569G>A (p.Gln33523=) c.97611G>A (p.Gln32537=) c.79227G>A (p.Gln26409=) c.100722G>A (p.Gln33574=) c.100719G>A (p.Gln33573=) c.100152G>A (p.Gln33384=) c.97494G>A (p.Gln32498=) c.97413G>A (p.Gln32471=) c.79176G>A (p.Gln26392=) c.69030G>A (p.Gln23010=) | gnomAD v4 |
2 | g.178530335T>A | CA349406338 | TTN,TTN-AS1 | c.98576A>T (p.Gln32859Leu) c.79661A>T (p.Gln26554Leu) c.79460A>T (p.Gln26487Leu) c.79085A>T (p.Gln26362Leu) c.106280A>T (p.Gln35427Leu) c.101357A>T (p.Gln33786Leu) n.446+6699T>A n.220-5397T>A c.105377A>T (p.Gln35126Leu) c.79271A>T (p.Gln26424Leu) c.79130A>T (p.Gln26377Leu) c.105173A>T (p.Gln35058Leu) c.100571A>T (p.Gln33524Leu) c.100568A>T (p.Gln33523Leu) c.97610A>T (p.Gln32537Leu) c.79226A>T (p.Gln26409Leu) c.100721A>T (p.Gln33574Leu) c.100718A>T (p.Gln33573Leu) c.100151A>T (p.Gln33384Leu) c.97493A>T (p.Gln32498Leu) c.97412A>T (p.Gln32471Leu) c.79175A>T (p.Gln26392Leu) c.69029A>T (p.Gln23010Leu) | |
2 | g.178530335T>C | CA349406335 | TTN,TTN-AS1 | c.98576A>G (p.Gln32859Arg) c.79661A>G (p.Gln26554Arg) c.79460A>G (p.Gln26487Arg) c.79085A>G (p.Gln26362Arg) c.106280A>G (p.Gln35427Arg) c.101357A>G (p.Gln33786Arg) n.446+6699T>C n.220-5397T>C c.105377A>G (p.Gln35126Arg) c.79271A>G (p.Gln26424Arg) c.79130A>G (p.Gln26377Arg) c.105173A>G (p.Gln35058Arg) c.100571A>G (p.Gln33524Arg) c.100568A>G (p.Gln33523Arg) c.97610A>G (p.Gln32537Arg) c.79226A>G (p.Gln26409Arg) c.100721A>G (p.Gln33574Arg) c.100718A>G (p.Gln33573Arg) c.100151A>G (p.Gln33384Arg) c.97493A>G (p.Gln32498Arg) c.97412A>G (p.Gln32471Arg) c.79175A>G (p.Gln26392Arg) c.69029A>G (p.Gln23010Arg) | gnomAD v4 |
2 | g.178530335T>G | CA349406337 | TTN,TTN-AS1 | c.98576A>C (p.Gln32859Pro) c.79661A>C (p.Gln26554Pro) c.79460A>C (p.Gln26487Pro) c.79085A>C (p.Gln26362Pro) c.106280A>C (p.Gln35427Pro) c.101357A>C (p.Gln33786Pro) n.446+6699T>G n.220-5397T>G c.105377A>C (p.Gln35126Pro) c.79271A>C (p.Gln26424Pro) c.79130A>C (p.Gln26377Pro) c.105173A>C (p.Gln35058Pro) c.100571A>C (p.Gln33524Pro) c.100568A>C (p.Gln33523Pro) c.97610A>C (p.Gln32537Pro) c.79226A>C (p.Gln26409Pro) c.100721A>C (p.Gln33574Pro) c.100718A>C (p.Gln33573Pro) c.100151A>C (p.Gln33384Pro) c.97493A>C (p.Gln32498Pro) c.97412A>C (p.Gln32471Pro) c.79175A>C (p.Gln26392Pro) c.69029A>C (p.Gln23010Pro) | |
2 | g.178530336G>A | CA349406340 | TTN,TTN-AS1 | c.98575C>T (p.Gln32859Ter) c.79660C>T (p.Gln26554Ter) c.79459C>T (p.Gln26487Ter) c.79084C>T (p.Gln26362Ter) c.106279C>T (p.Gln35427Ter) c.101356C>T (p.Gln33786Ter) n.446+6700G>A n.220-5396G>A c.105376C>T (p.Gln35126Ter) c.79270C>T (p.Gln26424Ter) c.79129C>T (p.Gln26377Ter) c.105172C>T (p.Gln35058Ter) c.100570C>T (p.Gln33524Ter) c.100567C>T (p.Gln33523Ter) c.97609C>T (p.Gln32537Ter) c.79225C>T (p.Gln26409Ter) c.100720C>T (p.Gln33574Ter) c.100717C>T (p.Gln33573Ter) c.100150C>T (p.Gln33384Ter) c.97492C>T (p.Gln32498Ter) c.97411C>T (p.Gln32471Ter) c.79174C>T (p.Gln26392Ter) c.69028C>T (p.Gln23010Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530336G>C | CA349406342 | TTN,TTN-AS1 | c.98575C>G (p.Gln32859Glu) c.79660C>G (p.Gln26554Glu) c.79459C>G (p.Gln26487Glu) c.79084C>G (p.Gln26362Glu) c.106279C>G (p.Gln35427Glu) c.101356C>G (p.Gln33786Glu) n.446+6700G>C n.220-5396G>C c.105376C>G (p.Gln35126Glu) c.79270C>G (p.Gln26424Glu) c.79129C>G (p.Gln26377Glu) c.105172C>G (p.Gln35058Glu) c.100570C>G (p.Gln33524Glu) c.100567C>G (p.Gln33523Glu) c.97609C>G (p.Gln32537Glu) c.79225C>G (p.Gln26409Glu) c.100720C>G (p.Gln33574Glu) c.100717C>G (p.Gln33573Glu) c.100150C>G (p.Gln33384Glu) c.97492C>G (p.Gln32498Glu) c.97411C>G (p.Gln32471Glu) c.79174C>G (p.Gln26392Glu) c.69028C>G (p.Gln23010Glu) | |
2 | g.178530336G= | CA1310514522 | TTN,TTN-AS1 | c.98575C= (p.Gln32859=) c.79660C= (p.Gln26554=) c.79459C= (p.Gln26487=) c.79084C= (p.Gln26362=) c.106279C= (p.Gln35427=) c.101356C= (p.Gln33786=) n.446+6700G= n.220-5396G= c.105376C= (p.Gln35126=) c.79270C= (p.Gln26424=) c.79129C= (p.Gln26377=) c.105172C= (p.Gln35058=) c.100570C= (p.Gln33524=) c.100567C= (p.Gln33523=) c.97609C= (p.Gln32537=) c.79225C= (p.Gln26409=) c.100720C= (p.Gln33574=) c.100717C= (p.Gln33573=) c.100150C= (p.Gln33384=) c.97492C= (p.Gln32498=) c.97411C= (p.Gln32471=) c.79174C= (p.Gln26392=) c.69028C= (p.Gln23010=) | |
2 | g.178530336G>T | CA349406344 | TTN,TTN-AS1 | c.98575C>A (p.Gln32859Lys) c.79660C>A (p.Gln26554Lys) c.79459C>A (p.Gln26487Lys) c.79084C>A (p.Gln26362Lys) c.106279C>A (p.Gln35427Lys) c.101356C>A (p.Gln33786Lys) n.446+6700G>T n.220-5396G>T c.105376C>A (p.Gln35126Lys) c.79270C>A (p.Gln26424Lys) c.79129C>A (p.Gln26377Lys) c.105172C>A (p.Gln35058Lys) c.100570C>A (p.Gln33524Lys) c.100567C>A (p.Gln33523Lys) c.97609C>A (p.Gln32537Lys) c.79225C>A (p.Gln26409Lys) c.100720C>A (p.Gln33574Lys) c.100717C>A (p.Gln33573Lys) c.100150C>A (p.Gln33384Lys) c.97492C>A (p.Gln32498Lys) c.97411C>A (p.Gln32471Lys) c.79174C>A (p.Gln26392Lys) c.69028C>A (p.Gln23010Lys) | |
2 | g.178530337C>A | CA349406345 | TTN,TTN-AS1 | c.98574G>T (p.Leu32858Phe) c.79659G>T (p.Leu26553Phe) c.79458G>T (p.Leu26486Phe) c.79083G>T (p.Leu26361Phe) c.106278G>T (p.Leu35426Phe) c.101355G>T (p.Leu33785Phe) n.446+6701C>A n.220-5395C>A c.105375G>T (p.Leu35125Phe) c.79269G>T (p.Leu26423Phe) c.79128G>T (p.Leu26376Phe) c.105171G>T (p.Leu35057Phe) c.100569G>T (p.Leu33523Phe) c.100566G>T (p.Leu33522Phe) c.97608G>T (p.Leu32536Phe) c.79224G>T (p.Leu26408Phe) c.100719G>T (p.Leu33573Phe) c.100716G>T (p.Leu33572Phe) c.100149G>T (p.Leu33383Phe) c.97491G>T (p.Leu32497Phe) c.97410G>T (p.Leu32470Phe) c.79173G>T (p.Leu26391Phe) c.69027G>T (p.Leu23009Phe) | |
2 | g.178530337C>G | CA349406347 | TTN,TTN-AS1 | c.98574G>C (p.Leu32858Phe) c.79659G>C (p.Leu26553Phe) c.79458G>C (p.Leu26486Phe) c.79083G>C (p.Leu26361Phe) c.106278G>C (p.Leu35426Phe) c.101355G>C (p.Leu33785Phe) n.446+6701C>G n.220-5395C>G c.105375G>C (p.Leu35125Phe) c.79269G>C (p.Leu26423Phe) c.79128G>C (p.Leu26376Phe) c.105171G>C (p.Leu35057Phe) c.100569G>C (p.Leu33523Phe) c.100566G>C (p.Leu33522Phe) c.97608G>C (p.Leu32536Phe) c.79224G>C (p.Leu26408Phe) c.100719G>C (p.Leu33573Phe) c.100716G>C (p.Leu33572Phe) c.100149G>C (p.Leu33383Phe) c.97491G>C (p.Leu32497Phe) c.97410G>C (p.Leu32470Phe) c.79173G>C (p.Leu26391Phe) c.69027G>C (p.Leu23009Phe) | |
2 | g.178530337C>T | CA430235167 | TTN,TTN-AS1 | c.98574G>A (p.Leu32858=) c.79659G>A (p.Leu26553=) c.79458G>A (p.Leu26486=) c.79083G>A (p.Leu26361=) c.106278G>A (p.Leu35426=) c.101355G>A (p.Leu33785=) n.446+6701C>T n.220-5395C>T c.105375G>A (p.Leu35125=) c.79269G>A (p.Leu26423=) c.79128G>A (p.Leu26376=) c.105171G>A (p.Leu35057=) c.100569G>A (p.Leu33523=) c.100566G>A (p.Leu33522=) c.97608G>A (p.Leu32536=) c.79224G>A (p.Leu26408=) c.100719G>A (p.Leu33573=) c.100716G>A (p.Leu33572=) c.100149G>A (p.Leu33383=) c.97491G>A (p.Leu32497=) c.97410G>A (p.Leu32470=) c.79173G>A (p.Leu26391=) c.69027G>A (p.Leu23009=) | |
2 | g.178530337_178530338dup | CA1039711495 | TTN,TTN-AS1 | c.98573_98574dup (p.Gln32859CysfsTer?) c.79658_79659dup (p.Gln26554CysfsTer?) c.79457_79458dup (p.Gln26487CysfsTer?) c.79082_79083dup (p.Gln26362CysfsTer?) c.106277_106278dup (p.Gln35427CysfsTer?) c.101354_101355dup (p.Gln33786CysfsTer?) n.446+6701_446+6702dup n.220-5395_220-5394dup c.105374_105375dup (p.Gln35126CysfsTer?) c.79268_79269dup (p.Gln26424CysfsTer?) c.79127_79128dup (p.Gln26377CysfsTer?) c.105170_105171dup (p.Gln35058CysfsTer?) c.100568_100569dup (p.Gln33524CysfsTer?) c.100565_100566dup (p.Gln33523CysfsTer?) c.97607_97608dup (p.Gln32537CysfsTer?) c.79223_79224dup (p.Gln26409CysfsTer?) c.100718_100719dup (p.Gln33574CysfsTer?) c.100715_100716dup (p.Gln33573CysfsTer?) c.100148_100149dup (p.Gln33384CysfsTer?) c.97490_97491dup (p.Gln32498CysfsTer?) c.97409_97410dup (p.Gln32471CysfsTer?) c.79172_79173dup (p.Gln26392CysfsTer?) c.69026_69027dup (p.Gln23010CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530338A>C | CA349406349 | TTN,TTN-AS1 | c.98573T>G (p.Leu32858Trp) c.79658T>G (p.Leu26553Trp) c.79457T>G (p.Leu26486Trp) c.79082T>G (p.Leu26361Trp) c.106277T>G (p.Leu35426Trp) c.101354T>G (p.Leu33785Trp) n.446+6702A>C n.220-5394A>C c.105374T>G (p.Leu35125Trp) c.79268T>G (p.Leu26423Trp) c.79127T>G (p.Leu26376Trp) c.105170T>G (p.Leu35057Trp) c.100568T>G (p.Leu33523Trp) c.100565T>G (p.Leu33522Trp) c.97607T>G (p.Leu32536Trp) c.79223T>G (p.Leu26408Trp) c.100718T>G (p.Leu33573Trp) c.100715T>G (p.Leu33572Trp) c.100148T>G (p.Leu33383Trp) c.97490T>G (p.Leu32497Trp) c.97409T>G (p.Leu32470Trp) c.79172T>G (p.Leu26391Trp) c.69026T>G (p.Leu23009Trp) | |
2 | g.178530338A>G | CA349406351 | TTN,TTN-AS1 | c.98573T>C (p.Leu32858Ser) c.79658T>C (p.Leu26553Ser) c.79457T>C (p.Leu26486Ser) c.79082T>C (p.Leu26361Ser) c.106277T>C (p.Leu35426Ser) c.101354T>C (p.Leu33785Ser) n.446+6702A>G n.220-5394A>G c.105374T>C (p.Leu35125Ser) c.79268T>C (p.Leu26423Ser) c.79127T>C (p.Leu26376Ser) c.105170T>C (p.Leu35057Ser) c.100568T>C (p.Leu33523Ser) c.100565T>C (p.Leu33522Ser) c.97607T>C (p.Leu32536Ser) c.79223T>C (p.Leu26408Ser) c.100718T>C (p.Leu33573Ser) c.100715T>C (p.Leu33572Ser) c.100148T>C (p.Leu33383Ser) c.97490T>C (p.Leu32497Ser) c.97409T>C (p.Leu32470Ser) c.79172T>C (p.Leu26391Ser) c.69026T>C (p.Leu23009Ser) | gnomAD v4 |
2 | g.178530338A>T | CA349406353 | TTN,TTN-AS1 | c.98573T>A (p.Leu32858Ter) c.79658T>A (p.Leu26553Ter) c.79457T>A (p.Leu26486Ter) c.79082T>A (p.Leu26361Ter) c.106277T>A (p.Leu35426Ter) c.101354T>A (p.Leu33785Ter) n.446+6702A>T n.220-5394A>T c.105374T>A (p.Leu35125Ter) c.79268T>A (p.Leu26423Ter) c.79127T>A (p.Leu26376Ter) c.105170T>A (p.Leu35057Ter) c.100568T>A (p.Leu33523Ter) c.100565T>A (p.Leu33522Ter) c.97607T>A (p.Leu32536Ter) c.79223T>A (p.Leu26408Ter) c.100718T>A (p.Leu33573Ter) c.100715T>A (p.Leu33572Ter) c.100148T>A (p.Leu33383Ter) c.97490T>A (p.Leu32497Ter) c.97409T>A (p.Leu32470Ter) c.79172T>A (p.Leu26391Ter) c.69026T>A (p.Leu23009Ter) | |
2 | g.178530339del | CA2662125679 | TTN,TTN-AS1 | c.98573del (p.Leu32858CysfsTer?) c.79658del (p.Leu26553CysfsTer?) c.79457del (p.Leu26486CysfsTer?) c.79082del (p.Leu26361CysfsTer?) c.106277del (p.Leu35426CysfsTer?) c.101354del (p.Leu33785CysfsTer?) n.446+6703del n.220-5393del c.105374del (p.Leu35125CysfsTer?) c.79268del (p.Leu26423CysfsTer?) c.79127del (p.Leu26376CysfsTer?) c.105170del (p.Leu35057CysfsTer?) c.100568del (p.Leu33523CysfsTer?) c.100565del (p.Leu33522CysfsTer?) c.97607del (p.Leu32536CysfsTer?) c.79223del (p.Leu26408CysfsTer?) c.100718del (p.Leu33573CysfsTer?) c.100715del (p.Leu33572CysfsTer?) c.100148del (p.Leu33383CysfsTer?) c.97490del (p.Leu32497CysfsTer?) c.97409del (p.Leu32470CysfsTer?) c.79172del (p.Leu26391CysfsTer?) c.69026del (p.Leu23009CysfsTer?) | gnomAD v4 |
2 | g.178530339A= | CA1310514525 | TTN,TTN-AS1 | c.98572T= (p.Leu32858=) c.79657T= (p.Leu26553=) c.79456T= (p.Leu26486=) c.79081T= (p.Leu26361=) c.106276T= (p.Leu35426=) c.101353T= (p.Leu33785=) n.446+6703A= n.220-5393A= c.105373T= (p.Leu35125=) c.79267T= (p.Leu26423=) c.79126T= (p.Leu26376=) c.105169T= (p.Leu35057=) c.100567T= (p.Leu33523=) c.100564T= (p.Leu33522=) c.97606T= (p.Leu32536=) c.79222T= (p.Leu26408=) c.100717T= (p.Leu33573=) c.100714T= (p.Leu33572=) c.100147T= (p.Leu33383=) c.97489T= (p.Leu32497=) c.97408T= (p.Leu32470=) c.79171T= (p.Leu26391=) c.69025T= (p.Leu23009=) | |
2 | g.178530339A>C | CA349406354 | TTN,TTN-AS1 | c.98572T>G (p.Leu32858Val) c.79657T>G (p.Leu26553Val) c.79456T>G (p.Leu26486Val) c.79081T>G (p.Leu26361Val) c.106276T>G (p.Leu35426Val) c.101353T>G (p.Leu33785Val) n.446+6703A>C n.220-5393A>C c.105373T>G (p.Leu35125Val) c.79267T>G (p.Leu26423Val) c.79126T>G (p.Leu26376Val) c.105169T>G (p.Leu35057Val) c.100567T>G (p.Leu33523Val) c.100564T>G (p.Leu33522Val) c.97606T>G (p.Leu32536Val) c.79222T>G (p.Leu26408Val) c.100717T>G (p.Leu33573Val) c.100714T>G (p.Leu33572Val) c.100147T>G (p.Leu33383Val) c.97489T>G (p.Leu32497Val) c.97408T>G (p.Leu32470Val) c.79171T>G (p.Leu26391Val) c.69025T>G (p.Leu23009Val) | dbSNP |
2 | g.178530339A>G | CA430235169 | TTN,TTN-AS1 | c.98572T>C (p.Leu32858=) c.79657T>C (p.Leu26553=) c.79456T>C (p.Leu26486=) c.79081T>C (p.Leu26361=) c.106276T>C (p.Leu35426=) c.101353T>C (p.Leu33785=) n.446+6703A>G n.220-5393A>G c.105373T>C (p.Leu35125=) c.79267T>C (p.Leu26423=) c.79126T>C (p.Leu26376=) c.105169T>C (p.Leu35057=) c.100567T>C (p.Leu33523=) c.100564T>C (p.Leu33522=) c.97606T>C (p.Leu32536=) c.79222T>C (p.Leu26408=) c.100717T>C (p.Leu33573=) c.100714T>C (p.Leu33572=) c.100147T>C (p.Leu33383=) c.97489T>C (p.Leu32497=) c.97408T>C (p.Leu32470=) c.79171T>C (p.Leu26391=) c.69025T>C (p.Leu23009=) | |
2 | g.178530339A>T | CA349406356 | TTN,TTN-AS1 | c.98572T>A (p.Leu32858Met) c.79657T>A (p.Leu26553Met) c.79456T>A (p.Leu26486Met) c.79081T>A (p.Leu26361Met) c.106276T>A (p.Leu35426Met) c.101353T>A (p.Leu33785Met) n.446+6703A>T n.220-5393A>T c.105373T>A (p.Leu35125Met) c.79267T>A (p.Leu26423Met) c.79126T>A (p.Leu26376Met) c.105169T>A (p.Leu35057Met) c.100567T>A (p.Leu33523Met) c.100564T>A (p.Leu33522Met) c.97606T>A (p.Leu32536Met) c.79222T>A (p.Leu26408Met) c.100717T>A (p.Leu33573Met) c.100714T>A (p.Leu33572Met) c.100147T>A (p.Leu33383Met) c.97489T>A (p.Leu32497Met) c.97408T>A (p.Leu32470Met) c.79171T>A (p.Leu26391Met) c.69025T>A (p.Leu23009Met) | |
2 | g.178530340C>A | CA430235171 | TTN,TTN-AS1 | c.98571G>T (p.Gly32857=) c.79656G>T (p.Gly26552=) c.79455G>T (p.Gly26485=) c.79080G>T (p.Gly26360=) c.106275G>T (p.Gly35425=) c.101352G>T (p.Gly33784=) n.446+6704C>A n.220-5392C>A c.105372G>T (p.Gly35124=) c.79266G>T (p.Gly26422=) c.79125G>T (p.Gly26375=) c.105168G>T (p.Gly35056=) c.100566G>T (p.Gly33522=) c.100563G>T (p.Gly33521=) c.97605G>T (p.Gly32535=) c.79221G>T (p.Gly26407=) c.100716G>T (p.Gly33572=) c.100713G>T (p.Gly33571=) c.100146G>T (p.Gly33382=) c.97488G>T (p.Gly32496=) c.97407G>T (p.Gly32469=) c.79170G>T (p.Gly26390=) c.69024G>T (p.Gly23008=) | |
2 | g.178530340C= | CA1310514529 | TTN,TTN-AS1 | c.98571G= (p.Gly32857=) c.79656G= (p.Gly26552=) c.79455G= (p.Gly26485=) c.79080G= (p.Gly26360=) c.106275G= (p.Gly35425=) c.101352G= (p.Gly33784=) n.446+6704C= n.220-5392C= c.105372G= (p.Gly35124=) c.79266G= (p.Gly26422=) c.79125G= (p.Gly26375=) c.105168G= (p.Gly35056=) c.100566G= (p.Gly33522=) c.100563G= (p.Gly33521=) c.97605G= (p.Gly32535=) c.79221G= (p.Gly26407=) c.100716G= (p.Gly33572=) c.100713G= (p.Gly33571=) c.100146G= (p.Gly33382=) c.97488G= (p.Gly32496=) c.97407G= (p.Gly32469=) c.79170G= (p.Gly26390=) c.69024G= (p.Gly23008=) | |
2 | g.178530340C>G | CA284370 | TTN,TTN-AS1 | c.98571G>C (p.Gly32857=) c.79656G>C (p.Gly26552=) c.79455G>C (p.Gly26485=) c.79080G>C (p.Gly26360=) c.106275G>C (p.Gly35425=) c.101352G>C (p.Gly33784=) n.446+6704C>G n.220-5392C>G c.105372G>C (p.Gly35124=) c.79266G>C (p.Gly26422=) c.79125G>C (p.Gly26375=) c.105168G>C (p.Gly35056=) c.100566G>C (p.Gly33522=) c.100563G>C (p.Gly33521=) c.97605G>C (p.Gly32535=) c.79221G>C (p.Gly26407=) c.100716G>C (p.Gly33572=) c.100713G>C (p.Gly33571=) c.100146G>C (p.Gly33382=) c.97488G>C (p.Gly32496=) c.97407G>C (p.Gly32469=) c.79170G>C (p.Gly26390=) c.69024G>C (p.Gly23008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530340C>T | CA430235174 | TTN,TTN-AS1 | c.98571G>A (p.Gly32857=) c.79656G>A (p.Gly26552=) c.79455G>A (p.Gly26485=) c.79080G>A (p.Gly26360=) c.106275G>A (p.Gly35425=) c.101352G>A (p.Gly33784=) n.446+6704C>T n.220-5392C>T c.105372G>A (p.Gly35124=) c.79266G>A (p.Gly26422=) c.79125G>A (p.Gly26375=) c.105168G>A (p.Gly35056=) c.100566G>A (p.Gly33522=) c.100563G>A (p.Gly33521=) c.97605G>A (p.Gly32535=) c.79221G>A (p.Gly26407=) c.100716G>A (p.Gly33572=) c.100713G>A (p.Gly33571=) c.100146G>A (p.Gly33382=) c.97488G>A (p.Gly32496=) c.97407G>A (p.Gly32469=) c.79170G>A (p.Gly26390=) c.69024G>A (p.Gly23008=) | gnomAD v4 |
2 | g.178530342del | CA2662125685 | TTN,TTN-AS1 | c.98571del (p.Leu32858CysfsTer?) c.79656del (p.Leu26553CysfsTer?) c.79455del (p.Leu26486CysfsTer?) c.79080del (p.Leu26361CysfsTer?) c.106275del (p.Leu35426CysfsTer?) c.101352del (p.Leu33785CysfsTer?) n.446+6706del n.220-5390del c.105372del (p.Leu35125CysfsTer?) c.79266del (p.Leu26423CysfsTer?) c.79125del (p.Leu26376CysfsTer?) c.105168del (p.Leu35057CysfsTer?) c.100566del (p.Leu33523CysfsTer?) c.100563del (p.Leu33522CysfsTer?) c.97605del (p.Leu32536CysfsTer?) c.79221del (p.Leu26408CysfsTer?) c.100716del (p.Leu33573CysfsTer?) c.100713del (p.Leu33572CysfsTer?) c.100146del (p.Leu33383CysfsTer?) c.97488del (p.Leu32497CysfsTer?) c.97407del (p.Leu32470CysfsTer?) c.79170del (p.Leu26391CysfsTer?) c.69024del (p.Leu23009CysfsTer?) | gnomAD v4 |
2 | g.178530341C>A | CA349406358 | TTN,TTN-AS1 | c.98570G>T (p.Gly32857Val) c.79655G>T (p.Gly26552Val) c.79454G>T (p.Gly26485Val) c.79079G>T (p.Gly26360Val) c.106274G>T (p.Gly35425Val) c.101351G>T (p.Gly33784Val) n.446+6705C>A n.220-5391C>A c.105371G>T (p.Gly35124Val) c.79265G>T (p.Gly26422Val) c.79124G>T (p.Gly26375Val) c.105167G>T (p.Gly35056Val) c.100565G>T (p.Gly33522Val) c.100562G>T (p.Gly33521Val) c.97604G>T (p.Gly32535Val) c.79220G>T (p.Gly26407Val) c.100715G>T (p.Gly33572Val) c.100712G>T (p.Gly33571Val) c.100145G>T (p.Gly33382Val) c.97487G>T (p.Gly32496Val) c.97406G>T (p.Gly32469Val) c.79169G>T (p.Gly26390Val) c.69023G>T (p.Gly23008Val) | |
2 | g.178530341C= | CA1310514532 | TTN,TTN-AS1 | c.98570G= (p.Gly32857=) c.79655G= (p.Gly26552=) c.79454G= (p.Gly26485=) c.79079G= (p.Gly26360=) c.106274G= (p.Gly35425=) c.101351G= (p.Gly33784=) n.446+6705C= n.220-5391C= c.105371G= (p.Gly35124=) c.79265G= (p.Gly26422=) c.79124G= (p.Gly26375=) c.105167G= (p.Gly35056=) c.100565G= (p.Gly33522=) c.100562G= (p.Gly33521=) c.97604G= (p.Gly32535=) c.79220G= (p.Gly26407=) c.100715G= (p.Gly33572=) c.100712G= (p.Gly33571=) c.100145G= (p.Gly33382=) c.97487G= (p.Gly32496=) c.97406G= (p.Gly32469=) c.79169G= (p.Gly26390=) c.69023G= (p.Gly23008=) | |
2 | g.178530341C>G | CA349406360 | TTN,TTN-AS1 | c.98570G>C (p.Gly32857Ala) c.79655G>C (p.Gly26552Ala) c.79454G>C (p.Gly26485Ala) c.79079G>C (p.Gly26360Ala) c.106274G>C (p.Gly35425Ala) c.101351G>C (p.Gly33784Ala) n.446+6705C>G n.220-5391C>G c.105371G>C (p.Gly35124Ala) c.79265G>C (p.Gly26422Ala) c.79124G>C (p.Gly26375Ala) c.105167G>C (p.Gly35056Ala) c.100565G>C (p.Gly33522Ala) c.100562G>C (p.Gly33521Ala) c.97604G>C (p.Gly32535Ala) c.79220G>C (p.Gly26407Ala) c.100715G>C (p.Gly33572Ala) c.100712G>C (p.Gly33571Ala) c.100145G>C (p.Gly33382Ala) c.97487G>C (p.Gly32496Ala) c.97406G>C (p.Gly32469Ala) c.79169G>C (p.Gly26390Ala) c.69023G>C (p.Gly23008Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530341C>T | CA349406359 | TTN,TTN-AS1 | c.98570G>A (p.Gly32857Glu) c.79655G>A (p.Gly26552Glu) c.79454G>A (p.Gly26485Glu) c.79079G>A (p.Gly26360Glu) c.106274G>A (p.Gly35425Glu) c.101351G>A (p.Gly33784Glu) n.446+6705C>T n.220-5391C>T c.105371G>A (p.Gly35124Glu) c.79265G>A (p.Gly26422Glu) c.79124G>A (p.Gly26375Glu) c.105167G>A (p.Gly35056Glu) c.100565G>A (p.Gly33522Glu) c.100562G>A (p.Gly33521Glu) c.97604G>A (p.Gly32535Glu) c.79220G>A (p.Gly26407Glu) c.100715G>A (p.Gly33572Glu) c.100712G>A (p.Gly33571Glu) c.100145G>A (p.Gly33382Glu) c.97487G>A (p.Gly32496Glu) c.97406G>A (p.Gly32469Glu) c.79169G>A (p.Gly26390Glu) c.69023G>A (p.Gly23008Glu) | ClinVar dbSNP |
2 | g.178530342C>A | CA349406362 | TTN,TTN-AS1 | c.98569G>T (p.Gly32857Trp) c.79654G>T (p.Gly26552Trp) c.79453G>T (p.Gly26485Trp) c.79078G>T (p.Gly26360Trp) c.106273G>T (p.Gly35425Trp) c.101350G>T (p.Gly33784Trp) n.446+6706C>A n.220-5390C>A c.105370G>T (p.Gly35124Trp) c.79264G>T (p.Gly26422Trp) c.79123G>T (p.Gly26375Trp) c.105166G>T (p.Gly35056Trp) c.100564G>T (p.Gly33522Trp) c.100561G>T (p.Gly33521Trp) c.97603G>T (p.Gly32535Trp) c.79219G>T (p.Gly26407Trp) c.100714G>T (p.Gly33572Trp) c.100711G>T (p.Gly33571Trp) c.100144G>T (p.Gly33382Trp) c.97486G>T (p.Gly32496Trp) c.97405G>T (p.Gly32469Trp) c.79168G>T (p.Gly26390Trp) c.69022G>T (p.Gly23008Trp) | |
2 | g.178530342C= | CA1310514534 | TTN,TTN-AS1 | c.98569G= (p.Gly32857=) c.79654G= (p.Gly26552=) c.79453G= (p.Gly26485=) c.79078G= (p.Gly26360=) c.106273G= (p.Gly35425=) c.101350G= (p.Gly33784=) n.446+6706C= n.220-5390C= c.105370G= (p.Gly35124=) c.79264G= (p.Gly26422=) c.79123G= (p.Gly26375=) c.105166G= (p.Gly35056=) c.100564G= (p.Gly33522=) c.100561G= (p.Gly33521=) c.97603G= (p.Gly32535=) c.79219G= (p.Gly26407=) c.100714G= (p.Gly33572=) c.100711G= (p.Gly33571=) c.100144G= (p.Gly33382=) c.97486G= (p.Gly32496=) c.97405G= (p.Gly32469=) c.79168G= (p.Gly26390=) c.69022G= (p.Gly23008=) | |
2 | g.178530342C>G | CA1985138 | TTN,TTN-AS1 | c.98569G>C (p.Gly32857Arg) c.79654G>C (p.Gly26552Arg) c.79453G>C (p.Gly26485Arg) c.79078G>C (p.Gly26360Arg) c.106273G>C (p.Gly35425Arg) c.101350G>C (p.Gly33784Arg) n.446+6706C>G n.220-5390C>G c.105370G>C (p.Gly35124Arg) c.79264G>C (p.Gly26422Arg) c.79123G>C (p.Gly26375Arg) c.105166G>C (p.Gly35056Arg) c.100564G>C (p.Gly33522Arg) c.100561G>C (p.Gly33521Arg) c.97603G>C (p.Gly32535Arg) c.79219G>C (p.Gly26407Arg) c.100714G>C (p.Gly33572Arg) c.100711G>C (p.Gly33571Arg) c.100144G>C (p.Gly33382Arg) c.97486G>C (p.Gly32496Arg) c.97405G>C (p.Gly32469Arg) c.79168G>C (p.Gly26390Arg) c.69022G>C (p.Gly23008Arg) | dbSNP ExAC gnomAD v2 |
2 | g.178530342C>T | CA349406365 | TTN,TTN-AS1 | c.98569G>A (p.Gly32857Arg) c.79654G>A (p.Gly26552Arg) c.79453G>A (p.Gly26485Arg) c.79078G>A (p.Gly26360Arg) c.106273G>A (p.Gly35425Arg) c.101350G>A (p.Gly33784Arg) n.446+6706C>T n.220-5390C>T c.105370G>A (p.Gly35124Arg) c.79264G>A (p.Gly26422Arg) c.79123G>A (p.Gly26375Arg) c.105166G>A (p.Gly35056Arg) c.100564G>A (p.Gly33522Arg) c.100561G>A (p.Gly33521Arg) c.97603G>A (p.Gly32535Arg) c.79219G>A (p.Gly26407Arg) c.100714G>A (p.Gly33572Arg) c.100711G>A (p.Gly33571Arg) c.100144G>A (p.Gly33382Arg) c.97486G>A (p.Gly32496Arg) c.97405G>A (p.Gly32469Arg) c.79168G>A (p.Gly26390Arg) c.69022G>A (p.Gly23008Arg) | ClinVar |