Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178535790G>ACA16042374TTN,TTN-AS1c.93121C>T (p.Arg31041Ter)
c.74206C>T (p.Arg24736Ter)
c.74005C>T (p.Arg24669Ter)
c.73630C>T (p.Arg24544Ter)
c.100825C>T (p.Arg33609Ter)
c.95902C>T (p.Arg31968Ter)
n.446+12154G>A
n.278G>A
c.99922C>T (p.Arg33308Ter)
c.73816C>T (p.Arg24606Ter)
c.73675C>T (p.Arg24559Ter)
c.99718C>T (p.Arg33240Ter)
c.95116C>T (p.Arg31706Ter)
c.95113C>T (p.Arg31705Ter)
c.92155C>T (p.Arg30719Ter)
c.73771C>T (p.Arg24591Ter)
c.95266C>T (p.Arg31756Ter)
c.95263C>T (p.Arg31755Ter)
c.94696C>T (p.Arg31566Ter)
c.92038C>T (p.Arg30680Ter)
c.91957C>T (p.Arg30653Ter)
c.73720C>T (p.Arg24574Ter)
c.63574C>T (p.Arg21192Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178535790G>CCA349422834TTN,TTN-AS1c.93121C>G (p.Arg31041Gly)
c.74206C>G (p.Arg24736Gly)
c.74005C>G (p.Arg24669Gly)
c.73630C>G (p.Arg24544Gly)
c.100825C>G (p.Arg33609Gly)
c.95902C>G (p.Arg31968Gly)
n.446+12154G>C
n.278G>C
c.99922C>G (p.Arg33308Gly)
c.73816C>G (p.Arg24606Gly)
c.73675C>G (p.Arg24559Gly)
c.99718C>G (p.Arg33240Gly)
c.95116C>G (p.Arg31706Gly)
c.95113C>G (p.Arg31705Gly)
c.92155C>G (p.Arg30719Gly)
c.73771C>G (p.Arg24591Gly)
c.95266C>G (p.Arg31756Gly)
c.95263C>G (p.Arg31755Gly)
c.94696C>G (p.Arg31566Gly)
c.92038C>G (p.Arg30680Gly)
c.91957C>G (p.Arg30653Gly)
c.73720C>G (p.Arg24574Gly)
c.63574C>G (p.Arg21192Gly)
2g.178535790G=CA1310519637TTN,TTN-AS1c.93121C= (p.Arg31041=)
c.74206C= (p.Arg24736=)
c.74005C= (p.Arg24669=)
c.73630C= (p.Arg24544=)
c.100825C= (p.Arg33609=)
c.95902C= (p.Arg31968=)
n.446+12154G=
n.278G=
c.99922C= (p.Arg33308=)
c.73816C= (p.Arg24606=)
c.73675C= (p.Arg24559=)
c.99718C= (p.Arg33240=)
c.95116C= (p.Arg31706=)
c.95113C= (p.Arg31705=)
c.92155C= (p.Arg30719=)
c.73771C= (p.Arg24591=)
c.95266C= (p.Arg31756=)
c.95263C= (p.Arg31755=)
c.94696C= (p.Arg31566=)
c.92038C= (p.Arg30680=)
c.91957C= (p.Arg30653=)
c.73720C= (p.Arg24574=)
c.63574C= (p.Arg21192=)
2g.178535790G>TCA430238607TTN,TTN-AS1c.93121C>A (p.Arg31041=)
c.74206C>A (p.Arg24736=)
c.74005C>A (p.Arg24669=)
c.73630C>A (p.Arg24544=)
c.100825C>A (p.Arg33609=)
c.95902C>A (p.Arg31968=)
n.446+12154G>T
n.278G>T
c.99922C>A (p.Arg33308=)
c.73816C>A (p.Arg24606=)
c.73675C>A (p.Arg24559=)
c.99718C>A (p.Arg33240=)
c.95116C>A (p.Arg31706=)
c.95113C>A (p.Arg31705=)
c.92155C>A (p.Arg30719=)
c.73771C>A (p.Arg24591=)
c.95266C>A (p.Arg31756=)
c.95263C>A (p.Arg31755=)
c.94696C>A (p.Arg31566=)
c.92038C>A (p.Arg30680=)
c.91957C>A (p.Arg30653=)
c.73720C>A (p.Arg24574=)
c.63574C>A (p.Arg21192=)
2g.178535791G>ACA430238610TTN,TTN-AS1c.93120C>T (p.Leu31040=)
c.74205C>T (p.Leu24735=)
c.74004C>T (p.Leu24668=)
c.73629C>T (p.Leu24543=)
c.100824C>T (p.Leu33608=)
c.95901C>T (p.Leu31967=)
n.446+12155G>A
n.279G>A
c.99921C>T (p.Leu33307=)
c.73815C>T (p.Leu24605=)
c.73674C>T (p.Leu24558=)
c.99717C>T (p.Leu33239=)
c.95115C>T (p.Leu31705=)
c.95112C>T (p.Leu31704=)
c.92154C>T (p.Leu30718=)
c.73770C>T (p.Leu24590=)
c.95265C>T (p.Leu31755=)
c.95262C>T (p.Leu31754=)
c.94695C>T (p.Leu31565=)
c.92037C>T (p.Leu30679=)
c.91956C>T (p.Leu30652=)
c.73719C>T (p.Leu24573=)
c.63573C>T (p.Leu21191=)
2g.178535791G>CCA430238611TTN,TTN-AS1c.93120C>G (p.Leu31040=)
c.74205C>G (p.Leu24735=)
c.74004C>G (p.Leu24668=)
c.73629C>G (p.Leu24543=)
c.100824C>G (p.Leu33608=)
c.95901C>G (p.Leu31967=)
n.446+12155G>C
n.279G>C
c.99921C>G (p.Leu33307=)
c.73815C>G (p.Leu24605=)
c.73674C>G (p.Leu24558=)
c.99717C>G (p.Leu33239=)
c.95115C>G (p.Leu31705=)
c.95112C>G (p.Leu31704=)
c.92154C>G (p.Leu30718=)
c.73770C>G (p.Leu24590=)
c.95265C>G (p.Leu31755=)
c.95262C>G (p.Leu31754=)
c.94695C>G (p.Leu31565=)
c.92037C>G (p.Leu30679=)
c.91956C>G (p.Leu30652=)
c.73719C>G (p.Leu24573=)
c.63573C>G (p.Leu21191=)
2g.178535791G>TCA430238612TTN,TTN-AS1c.93120C>A (p.Leu31040=)
c.74205C>A (p.Leu24735=)
c.74004C>A (p.Leu24668=)
c.73629C>A (p.Leu24543=)
c.100824C>A (p.Leu33608=)
c.95901C>A (p.Leu31967=)
n.446+12155G>T
n.279G>T
c.99921C>A (p.Leu33307=)
c.73815C>A (p.Leu24605=)
c.73674C>A (p.Leu24558=)
c.99717C>A (p.Leu33239=)
c.95115C>A (p.Leu31705=)
c.95112C>A (p.Leu31704=)
c.92154C>A (p.Leu30718=)
c.73770C>A (p.Leu24590=)
c.95265C>A (p.Leu31755=)
c.95262C>A (p.Leu31754=)
c.94695C>A (p.Leu31565=)
c.92037C>A (p.Leu30679=)
c.91956C>A (p.Leu30652=)
c.73719C>A (p.Leu24573=)
c.63573C>A (p.Leu21191=)
2g.178535792A>CCA349422836TTN,TTN-AS1c.93119T>G (p.Leu31040Arg)
c.74204T>G (p.Leu24735Arg)
c.74003T>G (p.Leu24668Arg)
c.73628T>G (p.Leu24543Arg)
c.100823T>G (p.Leu33608Arg)
c.95900T>G (p.Leu31967Arg)
n.446+12156A>C
n.280A>C
c.99920T>G (p.Leu33307Arg)
c.73814T>G (p.Leu24605Arg)
c.73673T>G (p.Leu24558Arg)
c.99716T>G (p.Leu33239Arg)
c.95114T>G (p.Leu31705Arg)
c.95111T>G (p.Leu31704Arg)
c.92153T>G (p.Leu30718Arg)
c.73769T>G (p.Leu24590Arg)
c.95264T>G (p.Leu31755Arg)
c.95261T>G (p.Leu31754Arg)
c.94694T>G (p.Leu31565Arg)
c.92036T>G (p.Leu30679Arg)
c.91955T>G (p.Leu30652Arg)
c.73718T>G (p.Leu24573Arg)
c.63572T>G (p.Leu21191Arg)
2g.178535792A>GCA349422838TTN,TTN-AS1c.93119T>C (p.Leu31040Pro)
c.74204T>C (p.Leu24735Pro)
c.74003T>C (p.Leu24668Pro)
c.73628T>C (p.Leu24543Pro)
c.100823T>C (p.Leu33608Pro)
c.95900T>C (p.Leu31967Pro)
n.446+12156A>G
n.280A>G
c.99920T>C (p.Leu33307Pro)
c.73814T>C (p.Leu24605Pro)
c.73673T>C (p.Leu24558Pro)
c.99716T>C (p.Leu33239Pro)
c.95114T>C (p.Leu31705Pro)
c.95111T>C (p.Leu31704Pro)
c.92153T>C (p.Leu30718Pro)
c.73769T>C (p.Leu24590Pro)
c.95264T>C (p.Leu31755Pro)
c.95261T>C (p.Leu31754Pro)
c.94694T>C (p.Leu31565Pro)
c.92036T>C (p.Leu30679Pro)
c.91955T>C (p.Leu30652Pro)
c.73718T>C (p.Leu24573Pro)
c.63572T>C (p.Leu21191Pro)
2g.178535792A>TCA349422840TTN,TTN-AS1c.93119T>A (p.Leu31040His)
c.74204T>A (p.Leu24735His)
c.74003T>A (p.Leu24668His)
c.73628T>A (p.Leu24543His)
c.100823T>A (p.Leu33608His)
c.95900T>A (p.Leu31967His)
n.446+12156A>T
n.280A>T
c.99920T>A (p.Leu33307His)
c.73814T>A (p.Leu24605His)
c.73673T>A (p.Leu24558His)
c.99716T>A (p.Leu33239His)
c.95114T>A (p.Leu31705His)
c.95111T>A (p.Leu31704His)
c.92153T>A (p.Leu30718His)
c.73769T>A (p.Leu24590His)
c.95264T>A (p.Leu31755His)
c.95261T>A (p.Leu31754His)
c.94694T>A (p.Leu31565His)
c.92036T>A (p.Leu30679His)
c.91955T>A (p.Leu30652His)
c.73718T>A (p.Leu24573His)
c.63572T>A (p.Leu21191His)
2g.178535793G>ACA349422842TTN,TTN-AS1c.93118C>T (p.Leu31040Phe)
c.74203C>T (p.Leu24735Phe)
c.74002C>T (p.Leu24668Phe)
c.73627C>T (p.Leu24543Phe)
c.100822C>T (p.Leu33608Phe)
c.95899C>T (p.Leu31967Phe)
n.446+12157G>A
n.281G>A
c.99919C>T (p.Leu33307Phe)
c.73813C>T (p.Leu24605Phe)
c.73672C>T (p.Leu24558Phe)
c.99715C>T (p.Leu33239Phe)
c.95113C>T (p.Leu31705Phe)
c.95110C>T (p.Leu31704Phe)
c.92152C>T (p.Leu30718Phe)
c.73768C>T (p.Leu24590Phe)
c.95263C>T (p.Leu31755Phe)
c.95260C>T (p.Leu31754Phe)
c.94693C>T (p.Leu31565Phe)
c.92035C>T (p.Leu30679Phe)
c.91954C>T (p.Leu30652Phe)
c.73717C>T (p.Leu24573Phe)
c.63571C>T (p.Leu21191Phe)
2g.178535793G>CCA349422844TTN,TTN-AS1c.93118C>G (p.Leu31040Val)
c.74203C>G (p.Leu24735Val)
c.74002C>G (p.Leu24668Val)
c.73627C>G (p.Leu24543Val)
c.100822C>G (p.Leu33608Val)
c.95899C>G (p.Leu31967Val)
n.446+12157G>C
n.281G>C
c.99919C>G (p.Leu33307Val)
c.73813C>G (p.Leu24605Val)
c.73672C>G (p.Leu24558Val)
c.99715C>G (p.Leu33239Val)
c.95113C>G (p.Leu31705Val)
c.95110C>G (p.Leu31704Val)
c.92152C>G (p.Leu30718Val)
c.73768C>G (p.Leu24590Val)
c.95263C>G (p.Leu31755Val)
c.95260C>G (p.Leu31754Val)
c.94693C>G (p.Leu31565Val)
c.92035C>G (p.Leu30679Val)
c.91954C>G (p.Leu30652Val)
c.73717C>G (p.Leu24573Val)
c.63571C>G (p.Leu21191Val)
2g.178535793G>TCA349422846TTN,TTN-AS1c.93118C>A (p.Leu31040Ile)
c.74203C>A (p.Leu24735Ile)
c.74002C>A (p.Leu24668Ile)
c.73627C>A (p.Leu24543Ile)
c.100822C>A (p.Leu33608Ile)
c.95899C>A (p.Leu31967Ile)
n.446+12157G>T
n.281G>T
c.99919C>A (p.Leu33307Ile)
c.73813C>A (p.Leu24605Ile)
c.73672C>A (p.Leu24558Ile)
c.99715C>A (p.Leu33239Ile)
c.95113C>A (p.Leu31705Ile)
c.95110C>A (p.Leu31704Ile)
c.92152C>A (p.Leu30718Ile)
c.73768C>A (p.Leu24590Ile)
c.95263C>A (p.Leu31755Ile)
c.95260C>A (p.Leu31754Ile)
c.94693C>A (p.Leu31565Ile)
c.92035C>A (p.Leu30679Ile)
c.91954C>A (p.Leu30652Ile)
c.73717C>A (p.Leu24573Ile)
c.63571C>A (p.Leu21191Ile)
2g.178535794delCA2662124602TTN,TTN-AS1c.93117del (p.Leu31040SerfsTer19)
c.74202del (p.Leu24735SerfsTer19)
c.74001del (p.Leu24668SerfsTer19)
c.73626del (p.Leu24543SerfsTer19)
c.100821del (p.Leu33608SerfsTer19)
c.95898del (p.Leu31967SerfsTer19)
n.446+12158del
n.282del
c.99918del (p.Leu33307SerfsTer19)
c.73812del (p.Leu24605SerfsTer19)
c.73671del (p.Leu24558SerfsTer19)
c.99714del (p.Leu33239SerfsTer19)
c.95112del (p.Leu31705SerfsTer19)
c.95109del (p.Leu31704SerfsTer19)
c.92151del (p.Leu30718SerfsTer19)
c.73767del (p.Leu24590SerfsTer19)
c.95262del (p.Leu31755SerfsTer19)
c.95259del (p.Leu31754SerfsTer19)
c.94692del (p.Leu31565SerfsTer19)
c.92034del (p.Leu30679SerfsTer19)
c.91953del (p.Leu30652SerfsTer19)
c.73716del (p.Leu24573SerfsTer19)
c.63570del (p.Leu21191SerfsTer19)
 gnomAD v4
2g.178535794A>CCA430238621TTN,TTN-AS1c.93117T>G (p.Ala31039=)
c.74202T>G (p.Ala24734=)
c.74001T>G (p.Ala24667=)
c.73626T>G (p.Ala24542=)
c.100821T>G (p.Ala33607=)
c.95898T>G (p.Ala31966=)
n.446+12158A>C
n.282A>C
c.99918T>G (p.Ala33306=)
c.73812T>G (p.Ala24604=)
c.73671T>G (p.Ala24557=)
c.99714T>G (p.Ala33238=)
c.95112T>G (p.Ala31704=)
c.95109T>G (p.Ala31703=)
c.92151T>G (p.Ala30717=)
c.73767T>G (p.Ala24589=)
c.95262T>G (p.Ala31754=)
c.95259T>G (p.Ala31753=)
c.94692T>G (p.Ala31564=)
c.92034T>G (p.Ala30678=)
c.91953T>G (p.Ala30651=)
c.73716T>G (p.Ala24572=)
c.63570T>G (p.Ala21190=)
2g.178535794A>GCA430238624TTN,TTN-AS1c.93117T>C (p.Ala31039=)
c.74202T>C (p.Ala24734=)
c.74001T>C (p.Ala24667=)
c.73626T>C (p.Ala24542=)
c.100821T>C (p.Ala33607=)
c.95898T>C (p.Ala31966=)
n.446+12158A>G
n.282A>G
c.99918T>C (p.Ala33306=)
c.73812T>C (p.Ala24604=)
c.73671T>C (p.Ala24557=)
c.99714T>C (p.Ala33238=)
c.95112T>C (p.Ala31704=)
c.95109T>C (p.Ala31703=)
c.92151T>C (p.Ala30717=)
c.73767T>C (p.Ala24589=)
c.95262T>C (p.Ala31754=)
c.95259T>C (p.Ala31753=)
c.94692T>C (p.Ala31564=)
c.92034T>C (p.Ala30678=)
c.91953T>C (p.Ala30651=)
c.73716T>C (p.Ala24572=)
c.63570T>C (p.Ala21190=)
2g.178535794A>TCA430238619TTN,TTN-AS1c.93117T>A (p.Ala31039=)
c.74202T>A (p.Ala24734=)
c.74001T>A (p.Ala24667=)
c.73626T>A (p.Ala24542=)
c.100821T>A (p.Ala33607=)
c.95898T>A (p.Ala31966=)
n.446+12158A>T
n.282A>T
c.99918T>A (p.Ala33306=)
c.73812T>A (p.Ala24604=)
c.73671T>A (p.Ala24557=)
c.99714T>A (p.Ala33238=)
c.95112T>A (p.Ala31704=)
c.95109T>A (p.Ala31703=)
c.92151T>A (p.Ala30717=)
c.73767T>A (p.Ala24589=)
c.95262T>A (p.Ala31754=)
c.95259T>A (p.Ala31753=)
c.94692T>A (p.Ala31564=)
c.92034T>A (p.Ala30678=)
c.91953T>A (p.Ala30651=)
c.73716T>A (p.Ala24572=)
c.63570T>A (p.Ala21190=)
2g.178535795G>ACA349422848TTN,TTN-AS1c.93116C>T (p.Ala31039Val)
c.74201C>T (p.Ala24734Val)
c.74000C>T (p.Ala24667Val)
c.73625C>T (p.Ala24542Val)
c.100820C>T (p.Ala33607Val)
c.95897C>T (p.Ala31966Val)
n.446+12159G>A
n.283G>A
c.99917C>T (p.Ala33306Val)
c.73811C>T (p.Ala24604Val)
c.73670C>T (p.Ala24557Val)
c.99713C>T (p.Ala33238Val)
c.95111C>T (p.Ala31704Val)
c.95108C>T (p.Ala31703Val)
c.92150C>T (p.Ala30717Val)
c.73766C>T (p.Ala24589Val)
c.95261C>T (p.Ala31754Val)
c.95258C>T (p.Ala31753Val)
c.94691C>T (p.Ala31564Val)
c.92033C>T (p.Ala30678Val)
c.91952C>T (p.Ala30651Val)
c.73715C>T (p.Ala24572Val)
c.63569C>T (p.Ala21190Val)
 ClinVar gnomAD v4
2g.178535795G>CCA349422850TTN,TTN-AS1c.93116C>G (p.Ala31039Gly)
c.74201C>G (p.Ala24734Gly)
c.74000C>G (p.Ala24667Gly)
c.73625C>G (p.Ala24542Gly)
c.100820C>G (p.Ala33607Gly)
c.95897C>G (p.Ala31966Gly)
n.446+12159G>C
n.283G>C
c.99917C>G (p.Ala33306Gly)
c.73811C>G (p.Ala24604Gly)
c.73670C>G (p.Ala24557Gly)
c.99713C>G (p.Ala33238Gly)
c.95111C>G (p.Ala31704Gly)
c.95108C>G (p.Ala31703Gly)
c.92150C>G (p.Ala30717Gly)
c.73766C>G (p.Ala24589Gly)
c.95261C>G (p.Ala31754Gly)
c.95258C>G (p.Ala31753Gly)
c.94691C>G (p.Ala31564Gly)
c.92033C>G (p.Ala30678Gly)
c.91952C>G (p.Ala30651Gly)
c.73715C>G (p.Ala24572Gly)
c.63569C>G (p.Ala21190Gly)
2g.178535795G>TCA349422852TTN,TTN-AS1c.93116C>A (p.Ala31039Asp)
c.74201C>A (p.Ala24734Asp)
c.74000C>A (p.Ala24667Asp)
c.73625C>A (p.Ala24542Asp)
c.100820C>A (p.Ala33607Asp)
c.95897C>A (p.Ala31966Asp)
n.446+12159G>T
n.283G>T
c.99917C>A (p.Ala33306Asp)
c.73811C>A (p.Ala24604Asp)
c.73670C>A (p.Ala24557Asp)
c.99713C>A (p.Ala33238Asp)
c.95111C>A (p.Ala31704Asp)
c.95108C>A (p.Ala31703Asp)
c.92150C>A (p.Ala30717Asp)
c.73766C>A (p.Ala24589Asp)
c.95261C>A (p.Ala31754Asp)
c.95258C>A (p.Ala31753Asp)
c.94691C>A (p.Ala31564Asp)
c.92033C>A (p.Ala30678Asp)
c.91952C>A (p.Ala30651Asp)
c.73715C>A (p.Ala24572Asp)
c.63569C>A (p.Ala21190Asp)
 gnomAD v4
2g.178535796C>ACA349422854TTN,TTN-AS1c.93115G>T (p.Ala31039Ser)
c.74200G>T (p.Ala24734Ser)
c.73999G>T (p.Ala24667Ser)
c.73624G>T (p.Ala24542Ser)
c.100819G>T (p.Ala33607Ser)
c.95896G>T (p.Ala31966Ser)
n.446+12160C>A
n.284C>A
c.99916G>T (p.Ala33306Ser)
c.73810G>T (p.Ala24604Ser)
c.73669G>T (p.Ala24557Ser)
c.99712G>T (p.Ala33238Ser)
c.95110G>T (p.Ala31704Ser)
c.95107G>T (p.Ala31703Ser)
c.92149G>T (p.Ala30717Ser)
c.73765G>T (p.Ala24589Ser)
c.95260G>T (p.Ala31754Ser)
c.95257G>T (p.Ala31753Ser)
c.94690G>T (p.Ala31564Ser)
c.92032G>T (p.Ala30678Ser)
c.91951G>T (p.Ala30651Ser)
c.73714G>T (p.Ala24572Ser)
c.63568G>T (p.Ala21190Ser)
2g.178535796C>GCA349422856TTN,TTN-AS1c.93115G>C (p.Ala31039Pro)
c.74200G>C (p.Ala24734Pro)
c.73999G>C (p.Ala24667Pro)
c.73624G>C (p.Ala24542Pro)
c.100819G>C (p.Ala33607Pro)
c.95896G>C (p.Ala31966Pro)
n.446+12160C>G
n.284C>G
c.99916G>C (p.Ala33306Pro)
c.73810G>C (p.Ala24604Pro)
c.73669G>C (p.Ala24557Pro)
c.99712G>C (p.Ala33238Pro)
c.95110G>C (p.Ala31704Pro)
c.95107G>C (p.Ala31703Pro)
c.92149G>C (p.Ala30717Pro)
c.73765G>C (p.Ala24589Pro)
c.95260G>C (p.Ala31754Pro)
c.95257G>C (p.Ala31753Pro)
c.94690G>C (p.Ala31564Pro)
c.92032G>C (p.Ala30678Pro)
c.91951G>C (p.Ala30651Pro)
c.73714G>C (p.Ala24572Pro)
c.63568G>C (p.Ala21190Pro)
2g.178535796C>TCA349422857TTN,TTN-AS1c.93115G>A (p.Ala31039Thr)
c.74200G>A (p.Ala24734Thr)
c.73999G>A (p.Ala24667Thr)
c.73624G>A (p.Ala24542Thr)
c.100819G>A (p.Ala33607Thr)
c.95896G>A (p.Ala31966Thr)
n.446+12160C>T
n.284C>T
c.99916G>A (p.Ala33306Thr)
c.73810G>A (p.Ala24604Thr)
c.73669G>A (p.Ala24557Thr)
c.99712G>A (p.Ala33238Thr)
c.95110G>A (p.Ala31704Thr)
c.95107G>A (p.Ala31703Thr)
c.92149G>A (p.Ala30717Thr)
c.73765G>A (p.Ala24589Thr)
c.95260G>A (p.Ala31754Thr)
c.95257G>A (p.Ala31753Thr)
c.94690G>A (p.Ala31564Thr)
c.92032G>A (p.Ala30678Thr)
c.91951G>A (p.Ala30651Thr)
c.73714G>A (p.Ala24572Thr)
c.63568G>A (p.Ala21190Thr)
2g.178535797A=CA1310519638TTN,TTN-AS1c.93114T= (p.His31038=)
c.74199T= (p.His24733=)
c.73998T= (p.His24666=)
c.73623T= (p.His24541=)
c.100818T= (p.His33606=)
c.95895T= (p.His31965=)
n.446+12161A=
n.285A=
c.99915T= (p.His33305=)
c.73809T= (p.His24603=)
c.73668T= (p.His24556=)
c.99711T= (p.His33237=)
c.95109T= (p.His31703=)
c.95106T= (p.His31702=)
c.92148T= (p.His30716=)
c.73764T= (p.His24588=)
c.95259T= (p.His31753=)
c.95256T= (p.His31752=)
c.94689T= (p.His31563=)
c.92031T= (p.His30677=)
c.91950T= (p.His30650=)
c.73713T= (p.His24571=)
c.63567T= (p.His21189=)
2g.178535797A>CCA349422858TTN,TTN-AS1c.93114T>G (p.His31038Gln)
c.74199T>G (p.His24733Gln)
c.73998T>G (p.His24666Gln)
c.73623T>G (p.His24541Gln)
c.100818T>G (p.His33606Gln)
c.95895T>G (p.His31965Gln)
n.446+12161A>C
n.285A>C
c.99915T>G (p.His33305Gln)
c.73809T>G (p.His24603Gln)
c.73668T>G (p.His24556Gln)
c.99711T>G (p.His33237Gln)
c.95109T>G (p.His31703Gln)
c.95106T>G (p.His31702Gln)
c.92148T>G (p.His30716Gln)
c.73764T>G (p.His24588Gln)
c.95259T>G (p.His31753Gln)
c.95256T>G (p.His31752Gln)
c.94689T>G (p.His31563Gln)
c.92031T>G (p.His30677Gln)
c.91950T>G (p.His30650Gln)
c.73713T>G (p.His24571Gln)
c.63567T>G (p.His21189Gln)
2g.178535797A>GCA430238629TTN,TTN-AS1c.93114T>C (p.His31038=)
c.74199T>C (p.His24733=)
c.73998T>C (p.His24666=)
c.73623T>C (p.His24541=)
c.100818T>C (p.His33606=)
c.95895T>C (p.His31965=)
n.446+12161A>G
n.285A>G
c.99915T>C (p.His33305=)
c.73809T>C (p.His24603=)
c.73668T>C (p.His24556=)
c.99711T>C (p.His33237=)
c.95109T>C (p.His31703=)
c.95106T>C (p.His31702=)
c.92148T>C (p.His30716=)
c.73764T>C (p.His24588=)
c.95259T>C (p.His31753=)
c.95256T>C (p.His31752=)
c.94689T>C (p.His31563=)
c.92031T>C (p.His30677=)
c.91950T>C (p.His30650=)
c.73713T>C (p.His24571=)
c.63567T>C (p.His21189=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178535797A>TCA349422859TTN,TTN-AS1c.93114T>A (p.His31038Gln)
c.74199T>A (p.His24733Gln)
c.73998T>A (p.His24666Gln)
c.73623T>A (p.His24541Gln)
c.100818T>A (p.His33606Gln)
c.95895T>A (p.His31965Gln)
n.446+12161A>T
n.285A>T
c.99915T>A (p.His33305Gln)
c.73809T>A (p.His24603Gln)
c.73668T>A (p.His24556Gln)
c.99711T>A (p.His33237Gln)
c.95109T>A (p.His31703Gln)
c.95106T>A (p.His31702Gln)
c.92148T>A (p.His30716Gln)
c.73764T>A (p.His24588Gln)
c.95259T>A (p.His31753Gln)
c.95256T>A (p.His31752Gln)
c.94689T>A (p.His31563Gln)
c.92031T>A (p.His30677Gln)
c.91950T>A (p.His30650Gln)
c.73713T>A (p.His24571Gln)
c.63567T>A (p.His21189Gln)
2g.178535797_178535798insGCA2573051754TTN,TTN-AS1c.93113_93114insC (p.Ala31039CysfsTer5)
c.74198_74199insC (p.Ala24734CysfsTer5)
c.73997_73998insC (p.Ala24667CysfsTer5)
c.73622_73623insC (p.Ala24542CysfsTer5)
c.100817_100818insC (p.Ala33607CysfsTer5)
c.95894_95895insC (p.Ala31966CysfsTer5)
n.446+12161_446+12162insG
n.285_286insG
c.99914_99915insC (p.Ala33306CysfsTer5)
c.73808_73809insC (p.Ala24604CysfsTer5)
c.73667_73668insC (p.Ala24557CysfsTer5)
c.99710_99711insC (p.Ala33238CysfsTer5)
c.95108_95109insC (p.Ala31704CysfsTer5)
c.95105_95106insC (p.Ala31703CysfsTer5)
c.92147_92148insC (p.Ala30717CysfsTer5)
c.73763_73764insC (p.Ala24589CysfsTer5)
c.95258_95259insC (p.Ala31754CysfsTer5)
c.95255_95256insC (p.Ala31753CysfsTer5)
c.94688_94689insC (p.Ala31564CysfsTer5)
c.92030_92031insC (p.Ala30678CysfsTer5)
c.91949_91950insC (p.Ala30651CysfsTer5)
c.73712_73713insC (p.Ala24572CysfsTer5)
c.63566_63567insC (p.Ala21190CysfsTer5)
 dbSNP
2g.178535798T>ACA349422862TTN,TTN-AS1c.93113A>T (p.His31038Leu)
c.74198A>T (p.His24733Leu)
c.73997A>T (p.His24666Leu)
c.73622A>T (p.His24541Leu)
c.100817A>T (p.His33606Leu)
c.95894A>T (p.His31965Leu)
n.446+12162T>A
n.286T>A
c.99914A>T (p.His33305Leu)
c.73808A>T (p.His24603Leu)
c.73667A>T (p.His24556Leu)
c.99710A>T (p.His33237Leu)
c.95108A>T (p.His31703Leu)
c.95105A>T (p.His31702Leu)
c.92147A>T (p.His30716Leu)
c.73763A>T (p.His24588Leu)
c.95258A>T (p.His31753Leu)
c.95255A>T (p.His31752Leu)
c.94688A>T (p.His31563Leu)
c.92030A>T (p.His30677Leu)
c.91949A>T (p.His30650Leu)
c.73712A>T (p.His24571Leu)
c.63566A>T (p.His21189Leu)
2g.178535798T>CCA349422863TTN,TTN-AS1c.93113A>G (p.His31038Arg)
c.74198A>G (p.His24733Arg)
c.73997A>G (p.His24666Arg)
c.73622A>G (p.His24541Arg)
c.100817A>G (p.His33606Arg)
c.95894A>G (p.His31965Arg)
n.446+12162T>C
n.286T>C
c.99914A>G (p.His33305Arg)
c.73808A>G (p.His24603Arg)
c.73667A>G (p.His24556Arg)
c.99710A>G (p.His33237Arg)
c.95108A>G (p.His31703Arg)
c.95105A>G (p.His31702Arg)
c.92147A>G (p.His30716Arg)
c.73763A>G (p.His24588Arg)
c.95258A>G (p.His31753Arg)
c.95255A>G (p.His31752Arg)
c.94688A>G (p.His31563Arg)
c.92030A>G (p.His30677Arg)
c.91949A>G (p.His30650Arg)
c.73712A>G (p.His24571Arg)
c.63566A>G (p.His21189Arg)
2g.178535798T>GCA349422864TTN,TTN-AS1c.93113A>C (p.His31038Pro)
c.74198A>C (p.His24733Pro)
c.73997A>C (p.His24666Pro)
c.73622A>C (p.His24541Pro)
c.100817A>C (p.His33606Pro)
c.95894A>C (p.His31965Pro)
n.446+12162T>G
n.286T>G
c.99914A>C (p.His33305Pro)
c.73808A>C (p.His24603Pro)
c.73667A>C (p.His24556Pro)
c.99710A>C (p.His33237Pro)
c.95108A>C (p.His31703Pro)
c.95105A>C (p.His31702Pro)
c.92147A>C (p.His30716Pro)
c.73763A>C (p.His24588Pro)
c.95258A>C (p.His31753Pro)
c.95255A>C (p.His31752Pro)
c.94688A>C (p.His31563Pro)
c.92030A>C (p.His30677Pro)
c.91949A>C (p.His30650Pro)
c.73712A>C (p.His24571Pro)
c.63566A>C (p.His21189Pro)
2g.178535798_178535799insTCATGCTCTCCCA2573051755TTN,TTN-AS1c.93112_93113insGGAGAGCATGA (p.His31038ArgfsTer4)
c.74197_74198insGGAGAGCATGA (p.His24733ArgfsTer4)
c.73996_73997insGGAGAGCATGA (p.His24666ArgfsTer4)
c.73621_73622insGGAGAGCATGA (p.His24541ArgfsTer4)
c.100816_100817insGGAGAGCATGA (p.His33606ArgfsTer4)
c.95893_95894insGGAGAGCATGA (p.His31965ArgfsTer4)
n.446+12162_446+12163insTCATGCTCTCC
n.286_287insTCATGCTCTCC
c.99913_99914insGGAGAGCATGA (p.His33305ArgfsTer4)
c.73807_73808insGGAGAGCATGA (p.His24603ArgfsTer4)
c.73666_73667insGGAGAGCATGA (p.His24556ArgfsTer4)
c.99709_99710insGGAGAGCATGA (p.His33237ArgfsTer4)
c.95107_95108insGGAGAGCATGA (p.His31703ArgfsTer4)
c.95104_95105insGGAGAGCATGA (p.His31702ArgfsTer4)
c.92146_92147insGGAGAGCATGA (p.His30716ArgfsTer4)
c.73762_73763insGGAGAGCATGA (p.His24588ArgfsTer4)
c.95257_95258insGGAGAGCATGA (p.His31753ArgfsTer4)
c.95254_95255insGGAGAGCATGA (p.His31752ArgfsTer4)
c.94687_94688insGGAGAGCATGA (p.His31563ArgfsTer4)
c.92029_92030insGGAGAGCATGA (p.His30677ArgfsTer4)
c.91948_91949insGGAGAGCATGA (p.His30650ArgfsTer4)
c.73711_73712insGGAGAGCATGA (p.His24571ArgfsTer4)
c.63565_63566insGGAGAGCATGA (p.His21189ArgfsTer4)
 dbSNP
2g.178535799G>ACA349422866TTN,TTN-AS1c.93112C>T (p.His31038Tyr)
c.74197C>T (p.His24733Tyr)
c.73996C>T (p.His24666Tyr)
c.73621C>T (p.His24541Tyr)
c.100816C>T (p.His33606Tyr)
c.95893C>T (p.His31965Tyr)
n.446+12163G>A
n.287G>A
c.99913C>T (p.His33305Tyr)
c.73807C>T (p.His24603Tyr)
c.73666C>T (p.His24556Tyr)
c.99709C>T (p.His33237Tyr)
c.95107C>T (p.His31703Tyr)
c.95104C>T (p.His31702Tyr)
c.92146C>T (p.His30716Tyr)
c.73762C>T (p.His24588Tyr)
c.95257C>T (p.His31753Tyr)
c.95254C>T (p.His31752Tyr)
c.94687C>T (p.His31563Tyr)
c.92029C>T (p.His30677Tyr)
c.91948C>T (p.His30650Tyr)
c.73711C>T (p.His24571Tyr)
c.63565C>T (p.His21189Tyr)
2g.178535799G>CCA349422868TTN,TTN-AS1c.93112C>G (p.His31038Asp)
c.74197C>G (p.His24733Asp)
c.73996C>G (p.His24666Asp)
c.73621C>G (p.His24541Asp)
c.100816C>G (p.His33606Asp)
c.95893C>G (p.His31965Asp)
n.446+12163G>C
n.287G>C
c.99913C>G (p.His33305Asp)
c.73807C>G (p.His24603Asp)
c.73666C>G (p.His24556Asp)
c.99709C>G (p.His33237Asp)
c.95107C>G (p.His31703Asp)
c.95104C>G (p.His31702Asp)
c.92146C>G (p.His30716Asp)
c.73762C>G (p.His24588Asp)
c.95257C>G (p.His31753Asp)
c.95254C>G (p.His31752Asp)
c.94687C>G (p.His31563Asp)
c.92029C>G (p.His30677Asp)
c.91948C>G (p.His30650Asp)
c.73711C>G (p.His24571Asp)
c.63565C>G (p.His21189Asp)
2g.178535799G>TCA349422869TTN,TTN-AS1c.93112C>A (p.His31038Asn)
c.74197C>A (p.His24733Asn)
c.73996C>A (p.His24666Asn)
c.73621C>A (p.His24541Asn)
c.100816C>A (p.His33606Asn)
c.95893C>A (p.His31965Asn)
n.446+12163G>T
n.287G>T
c.99913C>A (p.His33305Asn)
c.73807C>A (p.His24603Asn)
c.73666C>A (p.His24556Asn)
c.99709C>A (p.His33237Asn)
c.95107C>A (p.His31703Asn)
c.95104C>A (p.His31702Asn)
c.92146C>A (p.His30716Asn)
c.73762C>A (p.His24588Asn)
c.95257C>A (p.His31753Asn)
c.95254C>A (p.His31752Asn)
c.94687C>A (p.His31563Asn)
c.92029C>A (p.His30677Asn)
c.91948C>A (p.His30650Asn)
c.73711C>A (p.His24571Asn)
c.63565C>A (p.His21189Asn)
 gnomAD v4
2g.178535800A>CCA430238633TTN,TTN-AS1c.93111T>G (p.Val31037=)
c.74196T>G (p.Val24732=)
c.73995T>G (p.Val24665=)
c.73620T>G (p.Val24540=)
c.100815T>G (p.Val33605=)
c.95892T>G (p.Val31964=)
n.446+12164A>C
n.288A>C
c.99912T>G (p.Val33304=)
c.73806T>G (p.Val24602=)
c.73665T>G (p.Val24555=)
c.99708T>G (p.Val33236=)
c.95106T>G (p.Val31702=)
c.95103T>G (p.Val31701=)
c.92145T>G (p.Val30715=)
c.73761T>G (p.Val24587=)
c.95256T>G (p.Val31752=)
c.95253T>G (p.Val31751=)
c.94686T>G (p.Val31562=)
c.92028T>G (p.Val30676=)
c.91947T>G (p.Val30649=)
c.73710T>G (p.Val24570=)
c.63564T>G (p.Val21188=)
2g.178535800A>GCA430238634TTN,TTN-AS1c.93111T>C (p.Val31037=)
c.74196T>C (p.Val24732=)
c.73995T>C (p.Val24665=)
c.73620T>C (p.Val24540=)
c.100815T>C (p.Val33605=)
c.95892T>C (p.Val31964=)
n.446+12164A>G
n.288A>G
c.99912T>C (p.Val33304=)
c.73806T>C (p.Val24602=)
c.73665T>C (p.Val24555=)
c.99708T>C (p.Val33236=)
c.95106T>C (p.Val31702=)
c.95103T>C (p.Val31701=)
c.92145T>C (p.Val30715=)
c.73761T>C (p.Val24587=)
c.95256T>C (p.Val31752=)
c.95253T>C (p.Val31751=)
c.94686T>C (p.Val31562=)
c.92028T>C (p.Val30676=)
c.91947T>C (p.Val30649=)
c.73710T>C (p.Val24570=)
c.63564T>C (p.Val21188=)
2g.178535800A>TCA430238635TTN,TTN-AS1c.93111T>A (p.Val31037=)
c.74196T>A (p.Val24732=)
c.73995T>A (p.Val24665=)
c.73620T>A (p.Val24540=)
c.100815T>A (p.Val33605=)
c.95892T>A (p.Val31964=)
n.446+12164A>T
n.288A>T
c.99912T>A (p.Val33304=)
c.73806T>A (p.Val24602=)
c.73665T>A (p.Val24555=)
c.99708T>A (p.Val33236=)
c.95106T>A (p.Val31702=)
c.95103T>A (p.Val31701=)
c.92145T>A (p.Val30715=)
c.73761T>A (p.Val24587=)
c.95256T>A (p.Val31752=)
c.95253T>A (p.Val31751=)
c.94686T>A (p.Val31562=)
c.92028T>A (p.Val30676=)
c.91947T>A (p.Val30649=)
c.73710T>A (p.Val24570=)
c.63564T>A (p.Val21188=)
2g.178535801A>CCA349422872TTN,TTN-AS1c.93110T>G (p.Val31037Gly)
c.74195T>G (p.Val24732Gly)
c.73994T>G (p.Val24665Gly)
c.73619T>G (p.Val24540Gly)
c.100814T>G (p.Val33605Gly)
c.95891T>G (p.Val31964Gly)
n.446+12165A>C
n.289A>C
c.99911T>G (p.Val33304Gly)
c.73805T>G (p.Val24602Gly)
c.73664T>G (p.Val24555Gly)
c.99707T>G (p.Val33236Gly)
c.95105T>G (p.Val31702Gly)
c.95102T>G (p.Val31701Gly)
c.92144T>G (p.Val30715Gly)
c.73760T>G (p.Val24587Gly)
c.95255T>G (p.Val31752Gly)
c.95252T>G (p.Val31751Gly)
c.94685T>G (p.Val31562Gly)
c.92027T>G (p.Val30676Gly)
c.91946T>G (p.Val30649Gly)
c.73709T>G (p.Val24570Gly)
c.63563T>G (p.Val21188Gly)
2g.178535801A>GCA349422874TTN,TTN-AS1c.93110T>C (p.Val31037Ala)
c.74195T>C (p.Val24732Ala)
c.73994T>C (p.Val24665Ala)
c.73619T>C (p.Val24540Ala)
c.100814T>C (p.Val33605Ala)
c.95891T>C (p.Val31964Ala)
n.446+12165A>G
n.289A>G
c.99911T>C (p.Val33304Ala)
c.73805T>C (p.Val24602Ala)
c.73664T>C (p.Val24555Ala)
c.99707T>C (p.Val33236Ala)
c.95105T>C (p.Val31702Ala)
c.95102T>C (p.Val31701Ala)
c.92144T>C (p.Val30715Ala)
c.73760T>C (p.Val24587Ala)
c.95255T>C (p.Val31752Ala)
c.95252T>C (p.Val31751Ala)
c.94685T>C (p.Val31562Ala)
c.92027T>C (p.Val30676Ala)
c.91946T>C (p.Val30649Ala)
c.73709T>C (p.Val24570Ala)
c.63563T>C (p.Val21188Ala)
2g.178535801A>TCA349422875TTN,TTN-AS1c.93110T>A (p.Val31037Asp)
c.74195T>A (p.Val24732Asp)
c.73994T>A (p.Val24665Asp)
c.73619T>A (p.Val24540Asp)
c.100814T>A (p.Val33605Asp)
c.95891T>A (p.Val31964Asp)
n.446+12165A>T
n.289A>T
c.99911T>A (p.Val33304Asp)
c.73805T>A (p.Val24602Asp)
c.73664T>A (p.Val24555Asp)
c.99707T>A (p.Val33236Asp)
c.95105T>A (p.Val31702Asp)
c.95102T>A (p.Val31701Asp)
c.92144T>A (p.Val30715Asp)
c.73760T>A (p.Val24587Asp)
c.95255T>A (p.Val31752Asp)
c.95252T>A (p.Val31751Asp)
c.94685T>A (p.Val31562Asp)
c.92027T>A (p.Val30676Asp)
c.91946T>A (p.Val30649Asp)
c.73709T>A (p.Val24570Asp)
c.63563T>A (p.Val21188Asp)
2g.178535802C>ACA349422878TTN,TTN-AS1c.93109G>T (p.Val31037Phe)
c.74194G>T (p.Val24732Phe)
c.73993G>T (p.Val24665Phe)
c.73618G>T (p.Val24540Phe)
c.100813G>T (p.Val33605Phe)
c.95890G>T (p.Val31964Phe)
n.446+12166C>A
n.290C>A
c.99910G>T (p.Val33304Phe)
c.73804G>T (p.Val24602Phe)
c.73663G>T (p.Val24555Phe)
c.99706G>T (p.Val33236Phe)
c.95104G>T (p.Val31702Phe)
c.95101G>T (p.Val31701Phe)
c.92143G>T (p.Val30715Phe)
c.73759G>T (p.Val24587Phe)
c.95254G>T (p.Val31752Phe)
c.95251G>T (p.Val31751Phe)
c.94684G>T (p.Val31562Phe)
c.92026G>T (p.Val30676Phe)
c.91945G>T (p.Val30649Phe)
c.73708G>T (p.Val24570Phe)
c.63562G>T (p.Val21188Phe)
2g.178535802C=CA1310519639TTN,TTN-AS1c.93109G= (p.Val31037=)
c.74194G= (p.Val24732=)
c.73993G= (p.Val24665=)
c.73618G= (p.Val24540=)
c.100813G= (p.Val33605=)
c.95890G= (p.Val31964=)
n.446+12166C=
n.290C=
c.99910G= (p.Val33304=)
c.73804G= (p.Val24602=)
c.73663G= (p.Val24555=)
c.99706G= (p.Val33236=)
c.95104G= (p.Val31702=)
c.95101G= (p.Val31701=)
c.92143G= (p.Val30715=)
c.73759G= (p.Val24587=)
c.95254G= (p.Val31752=)
c.95251G= (p.Val31751=)
c.94684G= (p.Val31562=)
c.92026G= (p.Val30676=)
c.91945G= (p.Val30649=)
c.73708G= (p.Val24570=)
c.63562G= (p.Val21188=)
2g.178535802C>GCA349422880TTN,TTN-AS1c.93109G>C (p.Val31037Leu)
c.74194G>C (p.Val24732Leu)
c.73993G>C (p.Val24665Leu)
c.73618G>C (p.Val24540Leu)
c.100813G>C (p.Val33605Leu)
c.95890G>C (p.Val31964Leu)
n.446+12166C>G
n.290C>G
c.99910G>C (p.Val33304Leu)
c.73804G>C (p.Val24602Leu)
c.73663G>C (p.Val24555Leu)
c.99706G>C (p.Val33236Leu)
c.95104G>C (p.Val31702Leu)
c.95101G>C (p.Val31701Leu)
c.92143G>C (p.Val30715Leu)
c.73759G>C (p.Val24587Leu)
c.95254G>C (p.Val31752Leu)
c.95251G>C (p.Val31751Leu)
c.94684G>C (p.Val31562Leu)
c.92026G>C (p.Val30676Leu)
c.91945G>C (p.Val30649Leu)
c.73708G>C (p.Val24570Leu)
c.63562G>C (p.Val21188Leu)
 dbSNP
2g.178535802C>TCA349422881TTN,TTN-AS1c.93109G>A (p.Val31037Ile)
c.74194G>A (p.Val24732Ile)
c.73993G>A (p.Val24665Ile)
c.73618G>A (p.Val24540Ile)
c.100813G>A (p.Val33605Ile)
c.95890G>A (p.Val31964Ile)
n.446+12166C>T
n.290C>T
c.99910G>A (p.Val33304Ile)
c.73804G>A (p.Val24602Ile)
c.73663G>A (p.Val24555Ile)
c.99706G>A (p.Val33236Ile)
c.95104G>A (p.Val31702Ile)
c.95101G>A (p.Val31701Ile)
c.92143G>A (p.Val30715Ile)
c.73759G>A (p.Val24587Ile)
c.95254G>A (p.Val31752Ile)
c.95251G>A (p.Val31751Ile)
c.94684G>A (p.Val31562Ile)
c.92026G>A (p.Val30676Ile)
c.91945G>A (p.Val30649Ile)
c.73708G>A (p.Val24570Ile)
c.63562G>A (p.Val21188Ile)
2g.178535803T>ACA430238638TTN,TTN-AS1c.93108A>T (p.Ala31036=)
c.74193A>T (p.Ala24731=)
c.73992A>T (p.Ala24664=)
c.73617A>T (p.Ala24539=)
c.100812A>T (p.Ala33604=)
c.95889A>T (p.Ala31963=)
n.446+12167T>A
n.291T>A
c.99909A>T (p.Ala33303=)
c.73803A>T (p.Ala24601=)
c.73662A>T (p.Ala24554=)
c.99705A>T (p.Ala33235=)
c.95103A>T (p.Ala31701=)
c.95100A>T (p.Ala31700=)
c.92142A>T (p.Ala30714=)
c.73758A>T (p.Ala24586=)
c.95253A>T (p.Ala31751=)
c.95250A>T (p.Ala31750=)
c.94683A>T (p.Ala31561=)
c.92025A>T (p.Ala30675=)
c.91944A>T (p.Ala30648=)
c.73707A>T (p.Ala24569=)
c.63561A>T (p.Ala21187=)
 gnomAD v4
2g.178535803T>CCA430238640TTN,TTN-AS1c.93108A>G (p.Ala31036=)
c.74193A>G (p.Ala24731=)
c.73992A>G (p.Ala24664=)
c.73617A>G (p.Ala24539=)
c.100812A>G (p.Ala33604=)
c.95889A>G (p.Ala31963=)
n.446+12167T>C
n.291T>C
c.99909A>G (p.Ala33303=)
c.73803A>G (p.Ala24601=)
c.73662A>G (p.Ala24554=)
c.99705A>G (p.Ala33235=)
c.95103A>G (p.Ala31701=)
c.95100A>G (p.Ala31700=)
c.92142A>G (p.Ala30714=)
c.73758A>G (p.Ala24586=)
c.95253A>G (p.Ala31751=)
c.95250A>G (p.Ala31750=)
c.94683A>G (p.Ala31561=)
c.92025A>G (p.Ala30675=)
c.91944A>G (p.Ala30648=)
c.73707A>G (p.Ala24569=)
c.63561A>G (p.Ala21187=)
 dbSNP gnomAD v2 gnomAD v4
2g.178535803T>GCA430238643TTN,TTN-AS1c.93108A>C (p.Ala31036=)
c.74193A>C (p.Ala24731=)
c.73992A>C (p.Ala24664=)
c.73617A>C (p.Ala24539=)
c.100812A>C (p.Ala33604=)
c.95889A>C (p.Ala31963=)
n.446+12167T>G
n.291T>G
c.99909A>C (p.Ala33303=)
c.73803A>C (p.Ala24601=)
c.73662A>C (p.Ala24554=)
c.99705A>C (p.Ala33235=)
c.95103A>C (p.Ala31701=)
c.95100A>C (p.Ala31700=)
c.92142A>C (p.Ala30714=)
c.73758A>C (p.Ala24586=)
c.95253A>C (p.Ala31751=)
c.95250A>C (p.Ala31750=)
c.94683A>C (p.Ala31561=)
c.92025A>C (p.Ala30675=)
c.91944A>C (p.Ala30648=)
c.73707A>C (p.Ala24569=)
c.63561A>C (p.Ala21187=)
2g.178535803T=CA1310519640TTN,TTN-AS1c.93108A= (p.Ala31036=)
c.74193A= (p.Ala24731=)
c.73992A= (p.Ala24664=)
c.73617A= (p.Ala24539=)
c.100812A= (p.Ala33604=)
c.95889A= (p.Ala31963=)
n.446+12167T=
n.291T=
c.99909A= (p.Ala33303=)
c.73803A= (p.Ala24601=)
c.73662A= (p.Ala24554=)
c.99705A= (p.Ala33235=)
c.95103A= (p.Ala31701=)
c.95100A= (p.Ala31700=)
c.92142A= (p.Ala30714=)
c.73758A= (p.Ala24586=)
c.95253A= (p.Ala31751=)
c.95250A= (p.Ala31750=)
c.94683A= (p.Ala31561=)
c.92025A= (p.Ala30675=)
c.91944A= (p.Ala30648=)
c.73707A= (p.Ala24569=)
c.63561A= (p.Ala21187=)
2g.178535804G>ACA349422885TTN,TTN-AS1c.93107C>T (p.Ala31036Val)
c.74192C>T (p.Ala24731Val)
c.73991C>T (p.Ala24664Val)
c.73616C>T (p.Ala24539Val)
c.100811C>T (p.Ala33604Val)
c.95888C>T (p.Ala31963Val)
n.446+12168G>A
n.292G>A
c.99908C>T (p.Ala33303Val)
c.73802C>T (p.Ala24601Val)
c.73661C>T (p.Ala24554Val)
c.99704C>T (p.Ala33235Val)
c.95102C>T (p.Ala31701Val)
c.95099C>T (p.Ala31700Val)
c.92141C>T (p.Ala30714Val)
c.73757C>T (p.Ala24586Val)
c.95252C>T (p.Ala31751Val)
c.95249C>T (p.Ala31750Val)
c.94682C>T (p.Ala31561Val)
c.92024C>T (p.Ala30675Val)
c.91943C>T (p.Ala30648Val)
c.73706C>T (p.Ala24569Val)
c.63560C>T (p.Ala21187Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched