Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.178530343A= | CA1310514536 | TTN,TTN-AS1 | c.98568T= (p.Thr32856=) c.79653T= (p.Thr26551=) c.79452T= (p.Thr26484=) c.79077T= (p.Thr26359=) c.106272T= (p.Thr35424=) c.101349T= (p.Thr33783=) n.446+6707A= n.220-5389A= c.105369T= (p.Thr35123=) c.79263T= (p.Thr26421=) c.79122T= (p.Thr26374=) c.105165T= (p.Thr35055=) c.100563T= (p.Thr33521=) c.100560T= (p.Thr33520=) c.97602T= (p.Thr32534=) c.79218T= (p.Thr26406=) c.100713T= (p.Thr33571=) c.100710T= (p.Thr33570=) c.100143T= (p.Thr33381=) c.97485T= (p.Thr32495=) c.97404T= (p.Thr32468=) c.79167T= (p.Thr26389=) c.69021T= (p.Thr23007=) | |
2 | g.178530343A>C | CA1985139 | TTN,TTN-AS1 | c.98568T>G (p.Thr32856=) c.79653T>G (p.Thr26551=) c.79452T>G (p.Thr26484=) c.79077T>G (p.Thr26359=) c.106272T>G (p.Thr35424=) c.101349T>G (p.Thr33783=) n.446+6707A>C n.220-5389A>C c.105369T>G (p.Thr35123=) c.79263T>G (p.Thr26421=) c.79122T>G (p.Thr26374=) c.105165T>G (p.Thr35055=) c.100563T>G (p.Thr33521=) c.100560T>G (p.Thr33520=) c.97602T>G (p.Thr32534=) c.79218T>G (p.Thr26406=) c.100713T>G (p.Thr33571=) c.100710T>G (p.Thr33570=) c.100143T>G (p.Thr33381=) c.97485T>G (p.Thr32495=) c.97404T>G (p.Thr32468=) c.79167T>G (p.Thr26389=) c.69021T>G (p.Thr23007=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530343A>G | CA430235179 | TTN,TTN-AS1 | c.98568T>C (p.Thr32856=) c.79653T>C (p.Thr26551=) c.79452T>C (p.Thr26484=) c.79077T>C (p.Thr26359=) c.106272T>C (p.Thr35424=) c.101349T>C (p.Thr33783=) n.446+6707A>G n.220-5389A>G c.105369T>C (p.Thr35123=) c.79263T>C (p.Thr26421=) c.79122T>C (p.Thr26374=) c.105165T>C (p.Thr35055=) c.100563T>C (p.Thr33521=) c.100560T>C (p.Thr33520=) c.97602T>C (p.Thr32534=) c.79218T>C (p.Thr26406=) c.100713T>C (p.Thr33571=) c.100710T>C (p.Thr33570=) c.100143T>C (p.Thr33381=) c.97485T>C (p.Thr32495=) c.97404T>C (p.Thr32468=) c.79167T>C (p.Thr26389=) c.69021T>C (p.Thr23007=) | gnomAD v4 |
2 | g.178530343A>T | CA430235181 | TTN,TTN-AS1 | c.98568T>A (p.Thr32856=) c.79653T>A (p.Thr26551=) c.79452T>A (p.Thr26484=) c.79077T>A (p.Thr26359=) c.106272T>A (p.Thr35424=) c.101349T>A (p.Thr33783=) n.446+6707A>T n.220-5389A>T c.105369T>A (p.Thr35123=) c.79263T>A (p.Thr26421=) c.79122T>A (p.Thr26374=) c.105165T>A (p.Thr35055=) c.100563T>A (p.Thr33521=) c.100560T>A (p.Thr33520=) c.97602T>A (p.Thr32534=) c.79218T>A (p.Thr26406=) c.100713T>A (p.Thr33571=) c.100710T>A (p.Thr33570=) c.100143T>A (p.Thr33381=) c.97485T>A (p.Thr32495=) c.97404T>A (p.Thr32468=) c.79167T>A (p.Thr26389=) c.69021T>A (p.Thr23007=) | ClinVar |
2 | g.178530344G>A | CA349406367 | TTN,TTN-AS1 | c.98567C>T (p.Thr32856Ile) c.79652C>T (p.Thr26551Ile) c.79451C>T (p.Thr26484Ile) c.79076C>T (p.Thr26359Ile) c.106271C>T (p.Thr35424Ile) c.101348C>T (p.Thr33783Ile) n.446+6708G>A n.220-5388G>A c.105368C>T (p.Thr35123Ile) c.79262C>T (p.Thr26421Ile) c.79121C>T (p.Thr26374Ile) c.105164C>T (p.Thr35055Ile) c.100562C>T (p.Thr33521Ile) c.100559C>T (p.Thr33520Ile) c.97601C>T (p.Thr32534Ile) c.79217C>T (p.Thr26406Ile) c.100712C>T (p.Thr33571Ile) c.100709C>T (p.Thr33570Ile) c.100142C>T (p.Thr33381Ile) c.97484C>T (p.Thr32495Ile) c.97403C>T (p.Thr32468Ile) c.79166C>T (p.Thr26389Ile) c.69020C>T (p.Thr23007Ile) | |
2 | g.178530344G>C | CA349406369 | TTN,TTN-AS1 | c.98567C>G (p.Thr32856Ser) c.79652C>G (p.Thr26551Ser) c.79451C>G (p.Thr26484Ser) c.79076C>G (p.Thr26359Ser) c.106271C>G (p.Thr35424Ser) c.101348C>G (p.Thr33783Ser) n.446+6708G>C n.220-5388G>C c.105368C>G (p.Thr35123Ser) c.79262C>G (p.Thr26421Ser) c.79121C>G (p.Thr26374Ser) c.105164C>G (p.Thr35055Ser) c.100562C>G (p.Thr33521Ser) c.100559C>G (p.Thr33520Ser) c.97601C>G (p.Thr32534Ser) c.79217C>G (p.Thr26406Ser) c.100712C>G (p.Thr33571Ser) c.100709C>G (p.Thr33570Ser) c.100142C>G (p.Thr33381Ser) c.97484C>G (p.Thr32495Ser) c.97403C>G (p.Thr32468Ser) c.79166C>G (p.Thr26389Ser) c.69020C>G (p.Thr23007Ser) | |
2 | g.178530344G>T | CA349406370 | TTN,TTN-AS1 | c.98567C>A (p.Thr32856Asn) c.79652C>A (p.Thr26551Asn) c.79451C>A (p.Thr26484Asn) c.79076C>A (p.Thr26359Asn) c.106271C>A (p.Thr35424Asn) c.101348C>A (p.Thr33783Asn) n.446+6708G>T n.220-5388G>T c.105368C>A (p.Thr35123Asn) c.79262C>A (p.Thr26421Asn) c.79121C>A (p.Thr26374Asn) c.105164C>A (p.Thr35055Asn) c.100562C>A (p.Thr33521Asn) c.100559C>A (p.Thr33520Asn) c.97601C>A (p.Thr32534Asn) c.79217C>A (p.Thr26406Asn) c.100712C>A (p.Thr33571Asn) c.100709C>A (p.Thr33570Asn) c.100142C>A (p.Thr33381Asn) c.97484C>A (p.Thr32495Asn) c.97403C>A (p.Thr32468Asn) c.79166C>A (p.Thr26389Asn) c.69020C>A (p.Thr23007Asn) | |
2 | g.178530346_178530358del | CA2577170311 | TTN,TTN-AS1 | c.98555_98567del (p.Pro32852LeufsTer?) c.79640_79652del (p.Pro26547LeufsTer?) c.79439_79451del (p.Pro26480LeufsTer?) c.79064_79076del (p.Pro26355LeufsTer?) c.106259_106271del (p.Pro35420LeufsTer?) c.101336_101348del (p.Pro33779LeufsTer?) n.446+6710_446+6722del n.220-5386_220-5374del c.105356_105368del (p.Pro35119LeufsTer?) c.79250_79262del (p.Pro26417LeufsTer?) c.79109_79121del (p.Pro26370LeufsTer?) c.105152_105164del (p.Pro35051LeufsTer?) c.100550_100562del (p.Pro33517LeufsTer?) c.100547_100559del (p.Pro33516LeufsTer?) c.97589_97601del (p.Pro32530LeufsTer?) c.79205_79217del (p.Pro26402LeufsTer?) c.100700_100712del (p.Pro33567LeufsTer?) c.100697_100709del (p.Pro33566LeufsTer?) c.100130_100142del (p.Pro33377LeufsTer?) c.97472_97484del (p.Pro32491LeufsTer?) c.97391_97403del (p.Pro32464LeufsTer?) c.79154_79166del (p.Pro26385LeufsTer?) c.69008_69020del (p.Pro23003LeufsTer?) | ClinVar gnomAD v4 |
2 | g.178530345T>A | CA349406371 | TTN,TTN-AS1 | c.98566A>T (p.Thr32856Ser) c.79651A>T (p.Thr26551Ser) c.79450A>T (p.Thr26484Ser) c.79075A>T (p.Thr26359Ser) c.106270A>T (p.Thr35424Ser) c.101347A>T (p.Thr33783Ser) n.446+6709T>A n.220-5387T>A c.105367A>T (p.Thr35123Ser) c.79261A>T (p.Thr26421Ser) c.79120A>T (p.Thr26374Ser) c.105163A>T (p.Thr35055Ser) c.100561A>T (p.Thr33521Ser) c.100558A>T (p.Thr33520Ser) c.97600A>T (p.Thr32534Ser) c.79216A>T (p.Thr26406Ser) c.100711A>T (p.Thr33571Ser) c.100708A>T (p.Thr33570Ser) c.100141A>T (p.Thr33381Ser) c.97483A>T (p.Thr32495Ser) c.97402A>T (p.Thr32468Ser) c.79165A>T (p.Thr26389Ser) c.69019A>T (p.Thr23007Ser) | |
2 | g.178530345T>C | CA349406372 | TTN,TTN-AS1 | c.98566A>G (p.Thr32856Ala) c.79651A>G (p.Thr26551Ala) c.79450A>G (p.Thr26484Ala) c.79075A>G (p.Thr26359Ala) c.106270A>G (p.Thr35424Ala) c.101347A>G (p.Thr33783Ala) n.446+6709T>C n.220-5387T>C c.105367A>G (p.Thr35123Ala) c.79261A>G (p.Thr26421Ala) c.79120A>G (p.Thr26374Ala) c.105163A>G (p.Thr35055Ala) c.100561A>G (p.Thr33521Ala) c.100558A>G (p.Thr33520Ala) c.97600A>G (p.Thr32534Ala) c.79216A>G (p.Thr26406Ala) c.100711A>G (p.Thr33571Ala) c.100708A>G (p.Thr33570Ala) c.100141A>G (p.Thr33381Ala) c.97483A>G (p.Thr32495Ala) c.97402A>G (p.Thr32468Ala) c.79165A>G (p.Thr26389Ala) c.69019A>G (p.Thr23007Ala) | gnomAD v4 |
2 | g.178530345T>G | CA349406373 | TTN,TTN-AS1 | c.98566A>C (p.Thr32856Pro) c.79651A>C (p.Thr26551Pro) c.79450A>C (p.Thr26484Pro) c.79075A>C (p.Thr26359Pro) c.106270A>C (p.Thr35424Pro) c.101347A>C (p.Thr33783Pro) n.446+6709T>G n.220-5387T>G c.105367A>C (p.Thr35123Pro) c.79261A>C (p.Thr26421Pro) c.79120A>C (p.Thr26374Pro) c.105163A>C (p.Thr35055Pro) c.100561A>C (p.Thr33521Pro) c.100558A>C (p.Thr33520Pro) c.97600A>C (p.Thr32534Pro) c.79216A>C (p.Thr26406Pro) c.100711A>C (p.Thr33571Pro) c.100708A>C (p.Thr33570Pro) c.100141A>C (p.Thr33381Pro) c.97483A>C (p.Thr32495Pro) c.97402A>C (p.Thr32468Pro) c.79165A>C (p.Thr26389Pro) c.69019A>C (p.Thr23007Pro) | |
2 | g.178530346A>C | CA430235184 | TTN,TTN-AS1 | c.98565T>G (p.Val32855=) c.79650T>G (p.Val26550=) c.79449T>G (p.Val26483=) c.79074T>G (p.Val26358=) c.106269T>G (p.Val35423=) c.101346T>G (p.Val33782=) n.446+6710A>C n.220-5386A>C c.105366T>G (p.Val35122=) c.79260T>G (p.Val26420=) c.79119T>G (p.Val26373=) c.105162T>G (p.Val35054=) c.100560T>G (p.Val33520=) c.100557T>G (p.Val33519=) c.97599T>G (p.Val32533=) c.79215T>G (p.Val26405=) c.100710T>G (p.Val33570=) c.100707T>G (p.Val33569=) c.100140T>G (p.Val33380=) c.97482T>G (p.Val32494=) c.97401T>G (p.Val32467=) c.79164T>G (p.Val26388=) c.69018T>G (p.Val23006=) | |
2 | g.178530346A>G | CA430235187 | TTN,TTN-AS1 | c.98565T>C (p.Val32855=) c.79650T>C (p.Val26550=) c.79449T>C (p.Val26483=) c.79074T>C (p.Val26358=) c.106269T>C (p.Val35423=) c.101346T>C (p.Val33782=) n.446+6710A>G n.220-5386A>G c.105366T>C (p.Val35122=) c.79260T>C (p.Val26420=) c.79119T>C (p.Val26373=) c.105162T>C (p.Val35054=) c.100560T>C (p.Val33520=) c.100557T>C (p.Val33519=) c.97599T>C (p.Val32533=) c.79215T>C (p.Val26405=) c.100710T>C (p.Val33570=) c.100707T>C (p.Val33569=) c.100140T>C (p.Val33380=) c.97482T>C (p.Val32494=) c.97401T>C (p.Val32467=) c.79164T>C (p.Val26388=) c.69018T>C (p.Val23006=) | |
2 | g.178530346A>T | CA430235185 | TTN,TTN-AS1 | c.98565T>A (p.Val32855=) c.79650T>A (p.Val26550=) c.79449T>A (p.Val26483=) c.79074T>A (p.Val26358=) c.106269T>A (p.Val35423=) c.101346T>A (p.Val33782=) n.446+6710A>T n.220-5386A>T c.105366T>A (p.Val35122=) c.79260T>A (p.Val26420=) c.79119T>A (p.Val26373=) c.105162T>A (p.Val35054=) c.100560T>A (p.Val33520=) c.100557T>A (p.Val33519=) c.97599T>A (p.Val32533=) c.79215T>A (p.Val26405=) c.100710T>A (p.Val33570=) c.100707T>A (p.Val33569=) c.100140T>A (p.Val33380=) c.97482T>A (p.Val32494=) c.97401T>A (p.Val32467=) c.79164T>A (p.Val26388=) c.69018T>A (p.Val23006=) | |
2 | g.178530347A>C | CA349406376 | TTN,TTN-AS1 | c.98564T>G (p.Val32855Gly) c.79649T>G (p.Val26550Gly) c.79448T>G (p.Val26483Gly) c.79073T>G (p.Val26358Gly) c.106268T>G (p.Val35423Gly) c.101345T>G (p.Val33782Gly) n.446+6711A>C n.220-5385A>C c.105365T>G (p.Val35122Gly) c.79259T>G (p.Val26420Gly) c.79118T>G (p.Val26373Gly) c.105161T>G (p.Val35054Gly) c.100559T>G (p.Val33520Gly) c.100556T>G (p.Val33519Gly) c.97598T>G (p.Val32533Gly) c.79214T>G (p.Val26405Gly) c.100709T>G (p.Val33570Gly) c.100706T>G (p.Val33569Gly) c.100139T>G (p.Val33380Gly) c.97481T>G (p.Val32494Gly) c.97400T>G (p.Val32467Gly) c.79163T>G (p.Val26388Gly) c.69017T>G (p.Val23006Gly) | |
2 | g.178530347A>G | CA349406375 | TTN,TTN-AS1 | c.98564T>C (p.Val32855Ala) c.79649T>C (p.Val26550Ala) c.79448T>C (p.Val26483Ala) c.79073T>C (p.Val26358Ala) c.106268T>C (p.Val35423Ala) c.101345T>C (p.Val33782Ala) n.446+6711A>G n.220-5385A>G c.105365T>C (p.Val35122Ala) c.79259T>C (p.Val26420Ala) c.79118T>C (p.Val26373Ala) c.105161T>C (p.Val35054Ala) c.100559T>C (p.Val33520Ala) c.100556T>C (p.Val33519Ala) c.97598T>C (p.Val32533Ala) c.79214T>C (p.Val26405Ala) c.100709T>C (p.Val33570Ala) c.100706T>C (p.Val33569Ala) c.100139T>C (p.Val33380Ala) c.97481T>C (p.Val32494Ala) c.97400T>C (p.Val32467Ala) c.79163T>C (p.Val26388Ala) c.69017T>C (p.Val23006Ala) | |
2 | g.178530347A>T | CA349406374 | TTN,TTN-AS1 | c.98564T>A (p.Val32855Asp) c.79649T>A (p.Val26550Asp) c.79448T>A (p.Val26483Asp) c.79073T>A (p.Val26358Asp) c.106268T>A (p.Val35423Asp) c.101345T>A (p.Val33782Asp) n.446+6711A>T n.220-5385A>T c.105365T>A (p.Val35122Asp) c.79259T>A (p.Val26420Asp) c.79118T>A (p.Val26373Asp) c.105161T>A (p.Val35054Asp) c.100559T>A (p.Val33520Asp) c.100556T>A (p.Val33519Asp) c.97598T>A (p.Val32533Asp) c.79214T>A (p.Val26405Asp) c.100709T>A (p.Val33570Asp) c.100706T>A (p.Val33569Asp) c.100139T>A (p.Val33380Asp) c.97481T>A (p.Val32494Asp) c.97400T>A (p.Val32467Asp) c.79163T>A (p.Val26388Asp) c.69017T>A (p.Val23006Asp) | |
2 | g.178530348C>A | CA311255 | TTN,TTN-AS1 | c.98563G>T (p.Val32855Phe) c.79648G>T (p.Val26550Phe) c.79447G>T (p.Val26483Phe) c.79072G>T (p.Val26358Phe) c.106267G>T (p.Val35423Phe) c.101344G>T (p.Val33782Phe) n.446+6712C>A n.220-5384C>A c.105364G>T (p.Val35122Phe) c.79258G>T (p.Val26420Phe) c.79117G>T (p.Val26373Phe) c.105160G>T (p.Val35054Phe) c.100558G>T (p.Val33520Phe) c.100555G>T (p.Val33519Phe) c.97597G>T (p.Val32533Phe) c.79213G>T (p.Val26405Phe) c.100708G>T (p.Val33570Phe) c.100705G>T (p.Val33569Phe) c.100138G>T (p.Val33380Phe) c.97480G>T (p.Val32494Phe) c.97399G>T (p.Val32467Phe) c.79162G>T (p.Val26388Phe) c.69016G>T (p.Val23006Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530348C= | CA1310514538 | TTN,TTN-AS1 | c.98563G= (p.Val32855=) c.79648G= (p.Val26550=) c.79447G= (p.Val26483=) c.79072G= (p.Val26358=) c.106267G= (p.Val35423=) c.101344G= (p.Val33782=) n.446+6712C= n.220-5384C= c.105364G= (p.Val35122=) c.79258G= (p.Val26420=) c.79117G= (p.Val26373=) c.105160G= (p.Val35054=) c.100558G= (p.Val33520=) c.100555G= (p.Val33519=) c.97597G= (p.Val32533=) c.79213G= (p.Val26405=) c.100708G= (p.Val33570=) c.100705G= (p.Val33569=) c.100138G= (p.Val33380=) c.97480G= (p.Val32494=) c.97399G= (p.Val32467=) c.79162G= (p.Val26388=) c.69016G= (p.Val23006=) | |
2 | g.178530348C>G | CA349406377 | TTN,TTN-AS1 | c.98563G>C (p.Val32855Leu) c.79648G>C (p.Val26550Leu) c.79447G>C (p.Val26483Leu) c.79072G>C (p.Val26358Leu) c.106267G>C (p.Val35423Leu) c.101344G>C (p.Val33782Leu) n.446+6712C>G n.220-5384C>G c.105364G>C (p.Val35122Leu) c.79258G>C (p.Val26420Leu) c.79117G>C (p.Val26373Leu) c.105160G>C (p.Val35054Leu) c.100558G>C (p.Val33520Leu) c.100555G>C (p.Val33519Leu) c.97597G>C (p.Val32533Leu) c.79213G>C (p.Val26405Leu) c.100708G>C (p.Val33570Leu) c.100705G>C (p.Val33569Leu) c.100138G>C (p.Val33380Leu) c.97480G>C (p.Val32494Leu) c.97399G>C (p.Val32467Leu) c.79162G>C (p.Val26388Leu) c.69016G>C (p.Val23006Leu) | |
2 | g.178530348C>T | CA349406378 | TTN,TTN-AS1 | c.98563G>A (p.Val32855Ile) c.79648G>A (p.Val26550Ile) c.79447G>A (p.Val26483Ile) c.79072G>A (p.Val26358Ile) c.106267G>A (p.Val35423Ile) c.101344G>A (p.Val33782Ile) n.446+6712C>T n.220-5384C>T c.105364G>A (p.Val35122Ile) c.79258G>A (p.Val26420Ile) c.79117G>A (p.Val26373Ile) c.105160G>A (p.Val35054Ile) c.100558G>A (p.Val33520Ile) c.100555G>A (p.Val33519Ile) c.97597G>A (p.Val32533Ile) c.79213G>A (p.Val26405Ile) c.100708G>A (p.Val33570Ile) c.100705G>A (p.Val33569Ile) c.100138G>A (p.Val33380Ile) c.97480G>A (p.Val32494Ile) c.97399G>A (p.Val32467Ile) c.79162G>A (p.Val26388Ile) c.69016G>A (p.Val23006Ile) | |
2 | g.178530349A= | CA1310514539 | TTN,TTN-AS1 | c.98562T= (p.Ile32854=) c.79647T= (p.Ile26549=) c.79446T= (p.Ile26482=) c.79071T= (p.Ile26357=) c.106266T= (p.Ile35422=) c.101343T= (p.Ile33781=) n.446+6713A= n.220-5383A= c.105363T= (p.Ile35121=) c.79257T= (p.Ile26419=) c.79116T= (p.Ile26372=) c.105159T= (p.Ile35053=) c.100557T= (p.Ile33519=) c.100554T= (p.Ile33518=) c.97596T= (p.Ile32532=) c.79212T= (p.Ile26404=) c.100707T= (p.Ile33569=) c.100704T= (p.Ile33568=) c.100137T= (p.Ile33379=) c.97479T= (p.Ile32493=) c.97398T= (p.Ile32466=) c.79161T= (p.Ile26387=) c.69015T= (p.Ile23005=) | |
2 | g.178530349A>C | CA349406379 | TTN,TTN-AS1 | c.98562T>G (p.Ile32854Met) c.79647T>G (p.Ile26549Met) c.79446T>G (p.Ile26482Met) c.79071T>G (p.Ile26357Met) c.106266T>G (p.Ile35422Met) c.101343T>G (p.Ile33781Met) n.446+6713A>C n.220-5383A>C c.105363T>G (p.Ile35121Met) c.79257T>G (p.Ile26419Met) c.79116T>G (p.Ile26372Met) c.105159T>G (p.Ile35053Met) c.100557T>G (p.Ile33519Met) c.100554T>G (p.Ile33518Met) c.97596T>G (p.Ile32532Met) c.79212T>G (p.Ile26404Met) c.100707T>G (p.Ile33569Met) c.100704T>G (p.Ile33568Met) c.100137T>G (p.Ile33379Met) c.97479T>G (p.Ile32493Met) c.97398T>G (p.Ile32466Met) c.79161T>G (p.Ile26387Met) c.69015T>G (p.Ile23005Met) | |
2 | g.178530349A>G | CA430235190 | TTN,TTN-AS1 | c.98562T>C (p.Ile32854=) c.79647T>C (p.Ile26549=) c.79446T>C (p.Ile26482=) c.79071T>C (p.Ile26357=) c.106266T>C (p.Ile35422=) c.101343T>C (p.Ile33781=) n.446+6713A>G n.220-5383A>G c.105363T>C (p.Ile35121=) c.79257T>C (p.Ile26419=) c.79116T>C (p.Ile26372=) c.105159T>C (p.Ile35053=) c.100557T>C (p.Ile33519=) c.100554T>C (p.Ile33518=) c.97596T>C (p.Ile32532=) c.79212T>C (p.Ile26404=) c.100707T>C (p.Ile33569=) c.100704T>C (p.Ile33568=) c.100137T>C (p.Ile33379=) c.97479T>C (p.Ile32493=) c.97398T>C (p.Ile32466=) c.79161T>C (p.Ile26387=) c.69015T>C (p.Ile23005=) | gnomAD v4 |
2 | g.178530349A>T | CA430235191 | TTN,TTN-AS1 | c.98562T>A (p.Ile32854=) c.79647T>A (p.Ile26549=) c.79446T>A (p.Ile26482=) c.79071T>A (p.Ile26357=) c.106266T>A (p.Ile35422=) c.101343T>A (p.Ile33781=) n.446+6713A>T n.220-5383A>T c.105363T>A (p.Ile35121=) c.79257T>A (p.Ile26419=) c.79116T>A (p.Ile26372=) c.105159T>A (p.Ile35053=) c.100557T>A (p.Ile33519=) c.100554T>A (p.Ile33518=) c.97596T>A (p.Ile32532=) c.79212T>A (p.Ile26404=) c.100707T>A (p.Ile33569=) c.100704T>A (p.Ile33568=) c.100137T>A (p.Ile33379=) c.97479T>A (p.Ile32493=) c.97398T>A (p.Ile32466=) c.79161T>A (p.Ile26387=) c.69015T>A (p.Ile23005=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530350A= | CA1310514542 | TTN,TTN-AS1 | c.98561T= (p.Ile32854=) c.79646T= (p.Ile26549=) c.79445T= (p.Ile26482=) c.79070T= (p.Ile26357=) c.106265T= (p.Ile35422=) c.101342T= (p.Ile33781=) n.446+6714A= n.220-5382A= c.105362T= (p.Ile35121=) c.79256T= (p.Ile26419=) c.79115T= (p.Ile26372=) c.105158T= (p.Ile35053=) c.100556T= (p.Ile33519=) c.100553T= (p.Ile33518=) c.97595T= (p.Ile32532=) c.79211T= (p.Ile26404=) c.100706T= (p.Ile33569=) c.100703T= (p.Ile33568=) c.100136T= (p.Ile33379=) c.97478T= (p.Ile32493=) c.97397T= (p.Ile32466=) c.79160T= (p.Ile26387=) c.69014T= (p.Ile23005=) | |
2 | g.178530350A>C | CA349406380 | TTN,TTN-AS1 | c.98561T>G (p.Ile32854Ser) c.79646T>G (p.Ile26549Ser) c.79445T>G (p.Ile26482Ser) c.79070T>G (p.Ile26357Ser) c.106265T>G (p.Ile35422Ser) c.101342T>G (p.Ile33781Ser) n.446+6714A>C n.220-5382A>C c.105362T>G (p.Ile35121Ser) c.79256T>G (p.Ile26419Ser) c.79115T>G (p.Ile26372Ser) c.105158T>G (p.Ile35053Ser) c.100556T>G (p.Ile33519Ser) c.100553T>G (p.Ile33518Ser) c.97595T>G (p.Ile32532Ser) c.79211T>G (p.Ile26404Ser) c.100706T>G (p.Ile33569Ser) c.100703T>G (p.Ile33568Ser) c.100136T>G (p.Ile33379Ser) c.97478T>G (p.Ile32493Ser) c.97397T>G (p.Ile32466Ser) c.79160T>G (p.Ile26387Ser) c.69014T>G (p.Ile23005Ser) | |
2 | g.178530350A>G | CA349406381 | TTN,TTN-AS1 | c.98561T>C (p.Ile32854Thr) c.79646T>C (p.Ile26549Thr) c.79445T>C (p.Ile26482Thr) c.79070T>C (p.Ile26357Thr) c.106265T>C (p.Ile35422Thr) c.101342T>C (p.Ile33781Thr) n.446+6714A>G n.220-5382A>G c.105362T>C (p.Ile35121Thr) c.79256T>C (p.Ile26419Thr) c.79115T>C (p.Ile26372Thr) c.105158T>C (p.Ile35053Thr) c.100556T>C (p.Ile33519Thr) c.100553T>C (p.Ile33518Thr) c.97595T>C (p.Ile32532Thr) c.79211T>C (p.Ile26404Thr) c.100706T>C (p.Ile33569Thr) c.100703T>C (p.Ile33568Thr) c.100136T>C (p.Ile33379Thr) c.97478T>C (p.Ile32493Thr) c.97397T>C (p.Ile32466Thr) c.79160T>C (p.Ile26387Thr) c.69014T>C (p.Ile23005Thr) | ClinVar dbSNP |
2 | g.178530350A>T | CA349406382 | TTN,TTN-AS1 | c.98561T>A (p.Ile32854Asn) c.79646T>A (p.Ile26549Asn) c.79445T>A (p.Ile26482Asn) c.79070T>A (p.Ile26357Asn) c.106265T>A (p.Ile35422Asn) c.101342T>A (p.Ile33781Asn) n.446+6714A>T n.220-5382A>T c.105362T>A (p.Ile35121Asn) c.79256T>A (p.Ile26419Asn) c.79115T>A (p.Ile26372Asn) c.105158T>A (p.Ile35053Asn) c.100556T>A (p.Ile33519Asn) c.100553T>A (p.Ile33518Asn) c.97595T>A (p.Ile32532Asn) c.79211T>A (p.Ile26404Asn) c.100706T>A (p.Ile33569Asn) c.100703T>A (p.Ile33568Asn) c.100136T>A (p.Ile33379Asn) c.97478T>A (p.Ile32493Asn) c.97397T>A (p.Ile32466Asn) c.79160T>A (p.Ile26387Asn) c.69014T>A (p.Ile23005Asn) | |
2 | g.178530351T>A | CA349406383 | TTN,TTN-AS1 | c.98560A>T (p.Ile32854Phe) c.79645A>T (p.Ile26549Phe) c.79444A>T (p.Ile26482Phe) c.79069A>T (p.Ile26357Phe) c.106264A>T (p.Ile35422Phe) c.101341A>T (p.Ile33781Phe) n.446+6715T>A n.220-5381T>A c.105361A>T (p.Ile35121Phe) c.79255A>T (p.Ile26419Phe) c.79114A>T (p.Ile26372Phe) c.105157A>T (p.Ile35053Phe) c.100555A>T (p.Ile33519Phe) c.100552A>T (p.Ile33518Phe) c.97594A>T (p.Ile32532Phe) c.79210A>T (p.Ile26404Phe) c.100705A>T (p.Ile33569Phe) c.100702A>T (p.Ile33568Phe) c.100135A>T (p.Ile33379Phe) c.97477A>T (p.Ile32493Phe) c.97396A>T (p.Ile32466Phe) c.79159A>T (p.Ile26387Phe) c.69013A>T (p.Ile23005Phe) | |
2 | g.178530351T>C | CA349406384 | TTN,TTN-AS1 | c.98560A>G (p.Ile32854Val) c.79645A>G (p.Ile26549Val) c.79444A>G (p.Ile26482Val) c.79069A>G (p.Ile26357Val) c.106264A>G (p.Ile35422Val) c.101341A>G (p.Ile33781Val) n.446+6715T>C n.220-5381T>C c.105361A>G (p.Ile35121Val) c.79255A>G (p.Ile26419Val) c.79114A>G (p.Ile26372Val) c.105157A>G (p.Ile35053Val) c.100555A>G (p.Ile33519Val) c.100552A>G (p.Ile33518Val) c.97594A>G (p.Ile32532Val) c.79210A>G (p.Ile26404Val) c.100705A>G (p.Ile33569Val) c.100702A>G (p.Ile33568Val) c.100135A>G (p.Ile33379Val) c.97477A>G (p.Ile32493Val) c.97396A>G (p.Ile32466Val) c.79159A>G (p.Ile26387Val) c.69013A>G (p.Ile23005Val) | |
2 | g.178530351T>G | CA349406385 | TTN,TTN-AS1 | c.98560A>C (p.Ile32854Leu) c.79645A>C (p.Ile26549Leu) c.79444A>C (p.Ile26482Leu) c.79069A>C (p.Ile26357Leu) c.106264A>C (p.Ile35422Leu) c.101341A>C (p.Ile33781Leu) n.446+6715T>G n.220-5381T>G c.105361A>C (p.Ile35121Leu) c.79255A>C (p.Ile26419Leu) c.79114A>C (p.Ile26372Leu) c.105157A>C (p.Ile35053Leu) c.100555A>C (p.Ile33519Leu) c.100552A>C (p.Ile33518Leu) c.97594A>C (p.Ile32532Leu) c.79210A>C (p.Ile26404Leu) c.100705A>C (p.Ile33569Leu) c.100702A>C (p.Ile33568Leu) c.100135A>C (p.Ile33379Leu) c.97477A>C (p.Ile32493Leu) c.97396A>C (p.Ile32466Leu) c.79159A>C (p.Ile26387Leu) c.69013A>C (p.Ile23005Leu) | |
2 | g.178530352T>A | CA430235196 | TTN,TTN-AS1 | c.98559A>T (p.Val32853=) c.79644A>T (p.Val26548=) c.79443A>T (p.Val26481=) c.79068A>T (p.Val26356=) c.106263A>T (p.Val35421=) c.101340A>T (p.Val33780=) n.446+6716T>A n.220-5380T>A c.105360A>T (p.Val35120=) c.79254A>T (p.Val26418=) c.79113A>T (p.Val26371=) c.105156A>T (p.Val35052=) c.100554A>T (p.Val33518=) c.100551A>T (p.Val33517=) c.97593A>T (p.Val32531=) c.79209A>T (p.Val26403=) c.100704A>T (p.Val33568=) c.100701A>T (p.Val33567=) c.100134A>T (p.Val33378=) c.97476A>T (p.Val32492=) c.97395A>T (p.Val32465=) c.79158A>T (p.Val26386=) c.69012A>T (p.Val23004=) | |
2 | g.178530352T>C | CA430235197 | TTN,TTN-AS1 | c.98559A>G (p.Val32853=) c.79644A>G (p.Val26548=) c.79443A>G (p.Val26481=) c.79068A>G (p.Val26356=) c.106263A>G (p.Val35421=) c.101340A>G (p.Val33780=) n.446+6716T>C n.220-5380T>C c.105360A>G (p.Val35120=) c.79254A>G (p.Val26418=) c.79113A>G (p.Val26371=) c.105156A>G (p.Val35052=) c.100554A>G (p.Val33518=) c.100551A>G (p.Val33517=) c.97593A>G (p.Val32531=) c.79209A>G (p.Val26403=) c.100704A>G (p.Val33568=) c.100701A>G (p.Val33567=) c.100134A>G (p.Val33378=) c.97476A>G (p.Val32492=) c.97395A>G (p.Val32465=) c.79158A>G (p.Val26386=) c.69012A>G (p.Val23004=) | |
2 | g.178530352T>G | CA430235198 | TTN,TTN-AS1 | c.98559A>C (p.Val32853=) c.79644A>C (p.Val26548=) c.79443A>C (p.Val26481=) c.79068A>C (p.Val26356=) c.106263A>C (p.Val35421=) c.101340A>C (p.Val33780=) n.446+6716T>G n.220-5380T>G c.105360A>C (p.Val35120=) c.79254A>C (p.Val26418=) c.79113A>C (p.Val26371=) c.105156A>C (p.Val35052=) c.100554A>C (p.Val33518=) c.100551A>C (p.Val33517=) c.97593A>C (p.Val32531=) c.79209A>C (p.Val26403=) c.100704A>C (p.Val33568=) c.100701A>C (p.Val33567=) c.100134A>C (p.Val33378=) c.97476A>C (p.Val32492=) c.97395A>C (p.Val32465=) c.79158A>C (p.Val26386=) c.69012A>C (p.Val23004=) | |
2 | g.178530352T= | CA1310514543 | TTN,TTN-AS1 | c.98559A= (p.Val32853=) c.79644A= (p.Val26548=) c.79443A= (p.Val26481=) c.79068A= (p.Val26356=) c.106263A= (p.Val35421=) c.101340A= (p.Val33780=) n.446+6716T= n.220-5380T= c.105360A= (p.Val35120=) c.79254A= (p.Val26418=) c.79113A= (p.Val26371=) c.105156A= (p.Val35052=) c.100554A= (p.Val33518=) c.100551A= (p.Val33517=) c.97593A= (p.Val32531=) c.79209A= (p.Val26403=) c.100704A= (p.Val33568=) c.100701A= (p.Val33567=) c.100134A= (p.Val33378=) c.97476A= (p.Val32492=) c.97395A= (p.Val32465=) c.79158A= (p.Val26386=) c.69012A= (p.Val23004=) | |
2 | g.178530353A>C | CA349406386 | TTN,TTN-AS1 | c.98558T>G (p.Val32853Gly) c.79643T>G (p.Val26548Gly) c.79442T>G (p.Val26481Gly) c.79067T>G (p.Val26356Gly) c.106262T>G (p.Val35421Gly) c.101339T>G (p.Val33780Gly) n.446+6717A>C n.220-5379A>C c.105359T>G (p.Val35120Gly) c.79253T>G (p.Val26418Gly) c.79112T>G (p.Val26371Gly) c.105155T>G (p.Val35052Gly) c.100553T>G (p.Val33518Gly) c.100550T>G (p.Val33517Gly) c.97592T>G (p.Val32531Gly) c.79208T>G (p.Val26403Gly) c.100703T>G (p.Val33568Gly) c.100700T>G (p.Val33567Gly) c.100133T>G (p.Val33378Gly) c.97475T>G (p.Val32492Gly) c.97394T>G (p.Val32465Gly) c.79157T>G (p.Val26386Gly) c.69011T>G (p.Val23004Gly) | |
2 | g.178530353A>G | CA349406387 | TTN,TTN-AS1 | c.98558T>C (p.Val32853Ala) c.79643T>C (p.Val26548Ala) c.79442T>C (p.Val26481Ala) c.79067T>C (p.Val26356Ala) c.106262T>C (p.Val35421Ala) c.101339T>C (p.Val33780Ala) n.446+6717A>G n.220-5379A>G c.105359T>C (p.Val35120Ala) c.79253T>C (p.Val26418Ala) c.79112T>C (p.Val26371Ala) c.105155T>C (p.Val35052Ala) c.100553T>C (p.Val33518Ala) c.100550T>C (p.Val33517Ala) c.97592T>C (p.Val32531Ala) c.79208T>C (p.Val26403Ala) c.100703T>C (p.Val33568Ala) c.100700T>C (p.Val33567Ala) c.100133T>C (p.Val33378Ala) c.97475T>C (p.Val32492Ala) c.97394T>C (p.Val32465Ala) c.79157T>C (p.Val26386Ala) c.69011T>C (p.Val23004Ala) | |
2 | g.178530353A>T | CA349406388 | TTN,TTN-AS1 | c.98558T>A (p.Val32853Glu) c.79643T>A (p.Val26548Glu) c.79442T>A (p.Val26481Glu) c.79067T>A (p.Val26356Glu) c.106262T>A (p.Val35421Glu) c.101339T>A (p.Val33780Glu) n.446+6717A>T n.220-5379A>T c.105359T>A (p.Val35120Glu) c.79253T>A (p.Val26418Glu) c.79112T>A (p.Val26371Glu) c.105155T>A (p.Val35052Glu) c.100553T>A (p.Val33518Glu) c.100550T>A (p.Val33517Glu) c.97592T>A (p.Val32531Glu) c.79208T>A (p.Val26403Glu) c.100703T>A (p.Val33568Glu) c.100700T>A (p.Val33567Glu) c.100133T>A (p.Val33378Glu) c.97475T>A (p.Val32492Glu) c.97394T>A (p.Val32465Glu) c.79157T>A (p.Val26386Glu) c.69011T>A (p.Val23004Glu) | |
2 | g.178530353dup | CA1139657397 | TTN,TTN-AS1 | c.98558dup (p.Ile32854AsnfsTer17) c.79643dup (p.Ile26549AsnfsTer17) c.79442dup (p.Ile26482AsnfsTer17) c.79067dup (p.Ile26357AsnfsTer17) c.106262dup (p.Ile35422AsnfsTer17) c.101339dup (p.Ile33781AsnfsTer17) n.446+6717dup n.220-5379dup c.105359dup (p.Ile35121AsnfsTer17) c.79253dup (p.Ile26419AsnfsTer17) c.79112dup (p.Ile26372AsnfsTer17) c.105155dup (p.Ile35053AsnfsTer17) c.100553dup (p.Ile33519AsnfsTer17) c.100550dup (p.Ile33518AsnfsTer17) c.97592dup (p.Ile32532AsnfsTer17) c.79208dup (p.Ile26404AsnfsTer17) c.100703dup (p.Ile33569AsnfsTer17) c.100700dup (p.Ile33568AsnfsTer17) c.100133dup (p.Ile33379AsnfsTer17) c.97475dup (p.Ile32493AsnfsTer17) c.97394dup (p.Ile32466AsnfsTer17) c.79157dup (p.Ile26387AsnfsTer17) c.69011dup (p.Ile23005AsnfsTer17) | ClinVar dbSNP |
2 | g.178530354C>A | CA349406389 | TTN,TTN-AS1 | c.98557G>T (p.Val32853Leu) c.79642G>T (p.Val26548Leu) c.79441G>T (p.Val26481Leu) c.79066G>T (p.Val26356Leu) c.106261G>T (p.Val35421Leu) c.101338G>T (p.Val33780Leu) n.446+6718C>A n.220-5378C>A c.105358G>T (p.Val35120Leu) c.79252G>T (p.Val26418Leu) c.79111G>T (p.Val26371Leu) c.105154G>T (p.Val35052Leu) c.100552G>T (p.Val33518Leu) c.100549G>T (p.Val33517Leu) c.97591G>T (p.Val32531Leu) c.79207G>T (p.Val26403Leu) c.100702G>T (p.Val33568Leu) c.100699G>T (p.Val33567Leu) c.100132G>T (p.Val33378Leu) c.97474G>T (p.Val32492Leu) c.97393G>T (p.Val32465Leu) c.79156G>T (p.Val26386Leu) c.69010G>T (p.Val23004Leu) | |
2 | g.178530354C>G | CA349406391 | TTN,TTN-AS1 | c.98557G>C (p.Val32853Leu) c.79642G>C (p.Val26548Leu) c.79441G>C (p.Val26481Leu) c.79066G>C (p.Val26356Leu) c.106261G>C (p.Val35421Leu) c.101338G>C (p.Val33780Leu) n.446+6718C>G n.220-5378C>G c.105358G>C (p.Val35120Leu) c.79252G>C (p.Val26418Leu) c.79111G>C (p.Val26371Leu) c.105154G>C (p.Val35052Leu) c.100552G>C (p.Val33518Leu) c.100549G>C (p.Val33517Leu) c.97591G>C (p.Val32531Leu) c.79207G>C (p.Val26403Leu) c.100702G>C (p.Val33568Leu) c.100699G>C (p.Val33567Leu) c.100132G>C (p.Val33378Leu) c.97474G>C (p.Val32492Leu) c.97393G>C (p.Val32465Leu) c.79156G>C (p.Val26386Leu) c.69010G>C (p.Val23004Leu) | gnomAD v4 |
2 | g.178530354C>T | CA349406390 | TTN,TTN-AS1 | c.98557G>A (p.Val32853Ile) c.79642G>A (p.Val26548Ile) c.79441G>A (p.Val26481Ile) c.79066G>A (p.Val26356Ile) c.106261G>A (p.Val35421Ile) c.101338G>A (p.Val33780Ile) n.446+6718C>T n.220-5378C>T c.105358G>A (p.Val35120Ile) c.79252G>A (p.Val26418Ile) c.79111G>A (p.Val26371Ile) c.105154G>A (p.Val35052Ile) c.100552G>A (p.Val33518Ile) c.100549G>A (p.Val33517Ile) c.97591G>A (p.Val32531Ile) c.79207G>A (p.Val26403Ile) c.100702G>A (p.Val33568Ile) c.100699G>A (p.Val33567Ile) c.100132G>A (p.Val33378Ile) c.97474G>A (p.Val32492Ile) c.97393G>A (p.Val32465Ile) c.79156G>A (p.Val26386Ile) c.69010G>A (p.Val23004Ile) | |
2 | g.178530355T>A | CA430235201 | TTN,TTN-AS1 | c.98556A>T (p.Pro32852=) c.79641A>T (p.Pro26547=) c.79440A>T (p.Pro26480=) c.79065A>T (p.Pro26355=) c.106260A>T (p.Pro35420=) c.101337A>T (p.Pro33779=) n.446+6719T>A n.220-5377T>A c.105357A>T (p.Pro35119=) c.79251A>T (p.Pro26417=) c.79110A>T (p.Pro26370=) c.105153A>T (p.Pro35051=) c.100551A>T (p.Pro33517=) c.100548A>T (p.Pro33516=) c.97590A>T (p.Pro32530=) c.79206A>T (p.Pro26402=) c.100701A>T (p.Pro33567=) c.100698A>T (p.Pro33566=) c.100131A>T (p.Pro33377=) c.97473A>T (p.Pro32491=) c.97392A>T (p.Pro32464=) c.79155A>T (p.Pro26385=) c.69009A>T (p.Pro23003=) | |
2 | g.178530355T>C | CA430235202 | TTN,TTN-AS1 | c.98556A>G (p.Pro32852=) c.79641A>G (p.Pro26547=) c.79440A>G (p.Pro26480=) c.79065A>G (p.Pro26355=) c.106260A>G (p.Pro35420=) c.101337A>G (p.Pro33779=) n.446+6719T>C n.220-5377T>C c.105357A>G (p.Pro35119=) c.79251A>G (p.Pro26417=) c.79110A>G (p.Pro26370=) c.105153A>G (p.Pro35051=) c.100551A>G (p.Pro33517=) c.100548A>G (p.Pro33516=) c.97590A>G (p.Pro32530=) c.79206A>G (p.Pro26402=) c.100701A>G (p.Pro33567=) c.100698A>G (p.Pro33566=) c.100131A>G (p.Pro33377=) c.97473A>G (p.Pro32491=) c.97392A>G (p.Pro32464=) c.79155A>G (p.Pro26385=) c.69009A>G (p.Pro23003=) | |
2 | g.178530355T>G | CA430235203 | TTN,TTN-AS1 | c.98556A>C (p.Pro32852=) c.79641A>C (p.Pro26547=) c.79440A>C (p.Pro26480=) c.79065A>C (p.Pro26355=) c.106260A>C (p.Pro35420=) c.101337A>C (p.Pro33779=) n.446+6719T>G n.220-5377T>G c.105357A>C (p.Pro35119=) c.79251A>C (p.Pro26417=) c.79110A>C (p.Pro26370=) c.105153A>C (p.Pro35051=) c.100551A>C (p.Pro33517=) c.100548A>C (p.Pro33516=) c.97590A>C (p.Pro32530=) c.79206A>C (p.Pro26402=) c.100701A>C (p.Pro33567=) c.100698A>C (p.Pro33566=) c.100131A>C (p.Pro33377=) c.97473A>C (p.Pro32491=) c.97392A>C (p.Pro32464=) c.79155A>C (p.Pro26385=) c.69009A>C (p.Pro23003=) | |
2 | g.178530355_178530356delinsTG | CA1310514544 | TTN,TTN-AS1 | c.98555_98556delinsCA (p.Pro32852=) c.79640_79641delinsCA (p.Pro26547=) c.79439_79440delinsCA (p.Pro26480=) c.79064_79065delinsCA (p.Pro26355=) c.106259_106260delinsCA (p.Pro35420=) c.101336_101337delinsCA (p.Pro33779=) n.446+6719_446+6720delinsTG n.220-5377_220-5376delinsTG c.105356_105357delinsCA (p.Pro35119=) c.79250_79251delinsCA (p.Pro26417=) c.79109_79110delinsCA (p.Pro26370=) c.105152_105153delinsCA (p.Pro35051=) c.100550_100551delinsCA (p.Pro33517=) c.100547_100548delinsCA (p.Pro33516=) c.97589_97590delinsCA (p.Pro32530=) c.79205_79206delinsCA (p.Pro26402=) c.100700_100701delinsCA (p.Pro33567=) c.100697_100698delinsCA (p.Pro33566=) c.100130_100131delinsCA (p.Pro33377=) c.97472_97473delinsCA (p.Pro32491=) c.97391_97392delinsCA (p.Pro32464=) c.79154_79155delinsCA (p.Pro26385=) c.69008_69009delinsCA (p.Pro23003=) | |
2 | g.178530356G>A | CA349406392 | TTN,TTN-AS1 | c.98555C>T (p.Pro32852Leu) c.79640C>T (p.Pro26547Leu) c.79439C>T (p.Pro26480Leu) c.79064C>T (p.Pro26355Leu) c.106259C>T (p.Pro35420Leu) c.101336C>T (p.Pro33779Leu) n.446+6720G>A n.220-5376G>A c.105356C>T (p.Pro35119Leu) c.79250C>T (p.Pro26417Leu) c.79109C>T (p.Pro26370Leu) c.105152C>T (p.Pro35051Leu) c.100550C>T (p.Pro33517Leu) c.100547C>T (p.Pro33516Leu) c.97589C>T (p.Pro32530Leu) c.79205C>T (p.Pro26402Leu) c.100700C>T (p.Pro33567Leu) c.100697C>T (p.Pro33566Leu) c.100130C>T (p.Pro33377Leu) c.97472C>T (p.Pro32491Leu) c.97391C>T (p.Pro32464Leu) c.79154C>T (p.Pro26385Leu) c.69008C>T (p.Pro23003Leu) | |
2 | g.178530356G>C | CA1985140 | TTN,TTN-AS1 | c.98555C>G (p.Pro32852Arg) c.79640C>G (p.Pro26547Arg) c.79439C>G (p.Pro26480Arg) c.79064C>G (p.Pro26355Arg) c.106259C>G (p.Pro35420Arg) c.101336C>G (p.Pro33779Arg) n.446+6720G>C n.220-5376G>C c.105356C>G (p.Pro35119Arg) c.79250C>G (p.Pro26417Arg) c.79109C>G (p.Pro26370Arg) c.105152C>G (p.Pro35051Arg) c.100550C>G (p.Pro33517Arg) c.100547C>G (p.Pro33516Arg) c.97589C>G (p.Pro32530Arg) c.79205C>G (p.Pro26402Arg) c.100700C>G (p.Pro33567Arg) c.100697C>G (p.Pro33566Arg) c.100130C>G (p.Pro33377Arg) c.97472C>G (p.Pro32491Arg) c.97391C>G (p.Pro32464Arg) c.79154C>G (p.Pro26385Arg) c.69008C>G (p.Pro23003Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530356G= | CA1310514547 | TTN,TTN-AS1 | c.98555C= (p.Pro32852=) c.79640C= (p.Pro26547=) c.79439C= (p.Pro26480=) c.79064C= (p.Pro26355=) c.106259C= (p.Pro35420=) c.101336C= (p.Pro33779=) n.446+6720G= n.220-5376G= c.105356C= (p.Pro35119=) c.79250C= (p.Pro26417=) c.79109C= (p.Pro26370=) c.105152C= (p.Pro35051=) c.100550C= (p.Pro33517=) c.100547C= (p.Pro33516=) c.97589C= (p.Pro32530=) c.79205C= (p.Pro26402=) c.100700C= (p.Pro33567=) c.100697C= (p.Pro33566=) c.100130C= (p.Pro33377=) c.97472C= (p.Pro32491=) c.97391C= (p.Pro32464=) c.79154C= (p.Pro26385=) c.69008C= (p.Pro23003=) | |
2 | g.178530356G>T | CA349406393 | TTN,TTN-AS1 | c.98555C>A (p.Pro32852Gln) c.79640C>A (p.Pro26547Gln) c.79439C>A (p.Pro26480Gln) c.79064C>A (p.Pro26355Gln) c.106259C>A (p.Pro35420Gln) c.101336C>A (p.Pro33779Gln) n.446+6720G>T n.220-5376G>T c.105356C>A (p.Pro35119Gln) c.79250C>A (p.Pro26417Gln) c.79109C>A (p.Pro26370Gln) c.105152C>A (p.Pro35051Gln) c.100550C>A (p.Pro33517Gln) c.100547C>A (p.Pro33516Gln) c.97589C>A (p.Pro32530Gln) c.79205C>A (p.Pro26402Gln) c.100700C>A (p.Pro33567Gln) c.100697C>A (p.Pro33566Gln) c.100130C>A (p.Pro33377Gln) c.97472C>A (p.Pro32491Gln) c.97391C>A (p.Pro32464Gln) c.79154C>A (p.Pro26385Gln) c.69008C>A (p.Pro23003Gln) | |
2 | g.178530357del | CA1139657398 | TTN,TTN-AS1 | c.98555del (p.Pro32852GlnfsTer2) c.79640del (p.Pro26547GlnfsTer2) c.79439del (p.Pro26480GlnfsTer2) c.79064del (p.Pro26355GlnfsTer2) c.106259del (p.Pro35420GlnfsTer2) c.101336del (p.Pro33779GlnfsTer2) n.446+6721del n.220-5375del c.105356del (p.Pro35119GlnfsTer2) c.79250del (p.Pro26417GlnfsTer2) c.79109del (p.Pro26370GlnfsTer2) c.105152del (p.Pro35051GlnfsTer2) c.100550del (p.Pro33517GlnfsTer2) c.100547del (p.Pro33516GlnfsTer2) c.97589del (p.Pro32530GlnfsTer2) c.79205del (p.Pro26402GlnfsTer2) c.100700del (p.Pro33567GlnfsTer2) c.100697del (p.Pro33566GlnfsTer2) c.100130del (p.Pro33377GlnfsTer2) c.97472del (p.Pro32491GlnfsTer2) c.97391del (p.Pro32464GlnfsTer2) c.79154del (p.Pro26385GlnfsTer2) c.69008del (p.Pro23003GlnfsTer2) | ClinVar dbSNP |
2 | g.178530357G>A | CA1985141 | TTN,TTN-AS1 | c.98554C>T (p.Pro32852Ser) c.79639C>T (p.Pro26547Ser) c.79438C>T (p.Pro26480Ser) c.79063C>T (p.Pro26355Ser) c.106258C>T (p.Pro35420Ser) c.101335C>T (p.Pro33779Ser) n.446+6721G>A n.220-5375G>A c.105355C>T (p.Pro35119Ser) c.79249C>T (p.Pro26417Ser) c.79108C>T (p.Pro26370Ser) c.105151C>T (p.Pro35051Ser) c.100549C>T (p.Pro33517Ser) c.100546C>T (p.Pro33516Ser) c.97588C>T (p.Pro32530Ser) c.79204C>T (p.Pro26402Ser) c.100699C>T (p.Pro33567Ser) c.100696C>T (p.Pro33566Ser) c.100129C>T (p.Pro33377Ser) c.97471C>T (p.Pro32491Ser) c.97390C>T (p.Pro32464Ser) c.79153C>T (p.Pro26385Ser) c.69007C>T (p.Pro23003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530357G>C | CA349406394 | TTN,TTN-AS1 | c.98554C>G (p.Pro32852Ala) c.79639C>G (p.Pro26547Ala) c.79438C>G (p.Pro26480Ala) c.79063C>G (p.Pro26355Ala) c.106258C>G (p.Pro35420Ala) c.101335C>G (p.Pro33779Ala) n.446+6721G>C n.220-5375G>C c.105355C>G (p.Pro35119Ala) c.79249C>G (p.Pro26417Ala) c.79108C>G (p.Pro26370Ala) c.105151C>G (p.Pro35051Ala) c.100549C>G (p.Pro33517Ala) c.100546C>G (p.Pro33516Ala) c.97588C>G (p.Pro32530Ala) c.79204C>G (p.Pro26402Ala) c.100699C>G (p.Pro33567Ala) c.100696C>G (p.Pro33566Ala) c.100129C>G (p.Pro33377Ala) c.97471C>G (p.Pro32491Ala) c.97390C>G (p.Pro32464Ala) c.79153C>G (p.Pro26385Ala) c.69007C>G (p.Pro23003Ala) | |
2 | g.178530357G= | CA1310514551 | TTN,TTN-AS1 | c.98554C= (p.Pro32852=) c.79639C= (p.Pro26547=) c.79438C= (p.Pro26480=) c.79063C= (p.Pro26355=) c.106258C= (p.Pro35420=) c.101335C= (p.Pro33779=) n.446+6721G= n.220-5375G= c.105355C= (p.Pro35119=) c.79249C= (p.Pro26417=) c.79108C= (p.Pro26370=) c.105151C= (p.Pro35051=) c.100549C= (p.Pro33517=) c.100546C= (p.Pro33516=) c.97588C= (p.Pro32530=) c.79204C= (p.Pro26402=) c.100699C= (p.Pro33567=) c.100696C= (p.Pro33566=) c.100129C= (p.Pro33377=) c.97471C= (p.Pro32491=) c.97390C= (p.Pro32464=) c.79153C= (p.Pro26385=) c.69007C= (p.Pro23003=) | |
2 | g.178530357G>T | CA349406395 | TTN,TTN-AS1 | c.98554C>A (p.Pro32852Thr) c.79639C>A (p.Pro26547Thr) c.79438C>A (p.Pro26480Thr) c.79063C>A (p.Pro26355Thr) c.106258C>A (p.Pro35420Thr) c.101335C>A (p.Pro33779Thr) n.446+6721G>T n.220-5375G>T c.105355C>A (p.Pro35119Thr) c.79249C>A (p.Pro26417Thr) c.79108C>A (p.Pro26370Thr) c.105151C>A (p.Pro35051Thr) c.100549C>A (p.Pro33517Thr) c.100546C>A (p.Pro33516Thr) c.97588C>A (p.Pro32530Thr) c.79204C>A (p.Pro26402Thr) c.100699C>A (p.Pro33567Thr) c.100696C>A (p.Pro33566Thr) c.100129C>A (p.Pro33377Thr) c.97471C>A (p.Pro32491Thr) c.97390C>A (p.Pro32464Thr) c.79153C>A (p.Pro26385Thr) c.69007C>A (p.Pro23003Thr) | |
2 | g.178530358T>A | CA349406396 | TTN,TTN-AS1 | c.98553A>T (p.Lys32851Asn) c.79638A>T (p.Lys26546Asn) c.79437A>T (p.Lys26479Asn) c.79062A>T (p.Lys26354Asn) c.106257A>T (p.Lys35419Asn) c.101334A>T (p.Lys33778Asn) n.446+6722T>A n.220-5374T>A c.105354A>T (p.Lys35118Asn) c.79248A>T (p.Lys26416Asn) c.79107A>T (p.Lys26369Asn) c.105150A>T (p.Lys35050Asn) c.100548A>T (p.Lys33516Asn) c.100545A>T (p.Lys33515Asn) c.97587A>T (p.Lys32529Asn) c.79203A>T (p.Lys26401Asn) c.100698A>T (p.Lys33566Asn) c.100695A>T (p.Lys33565Asn) c.100128A>T (p.Lys33376Asn) c.97470A>T (p.Lys32490Asn) c.97389A>T (p.Lys32463Asn) c.79152A>T (p.Lys26384Asn) c.69006A>T (p.Lys23002Asn) | |
2 | g.178530358T>C | CA430235208 | TTN,TTN-AS1 | c.98553A>G (p.Lys32851=) c.79638A>G (p.Lys26546=) c.79437A>G (p.Lys26479=) c.79062A>G (p.Lys26354=) c.106257A>G (p.Lys35419=) c.101334A>G (p.Lys33778=) n.446+6722T>C n.220-5374T>C c.105354A>G (p.Lys35118=) c.79248A>G (p.Lys26416=) c.79107A>G (p.Lys26369=) c.105150A>G (p.Lys35050=) c.100548A>G (p.Lys33516=) c.100545A>G (p.Lys33515=) c.97587A>G (p.Lys32529=) c.79203A>G (p.Lys26401=) c.100698A>G (p.Lys33566=) c.100695A>G (p.Lys33565=) c.100128A>G (p.Lys33376=) c.97470A>G (p.Lys32490=) c.97389A>G (p.Lys32463=) c.79152A>G (p.Lys26384=) c.69006A>G (p.Lys23002=) | |
2 | g.178530358T>G | CA349406397 | TTN,TTN-AS1 | c.98553A>C (p.Lys32851Asn) c.79638A>C (p.Lys26546Asn) c.79437A>C (p.Lys26479Asn) c.79062A>C (p.Lys26354Asn) c.106257A>C (p.Lys35419Asn) c.101334A>C (p.Lys33778Asn) n.446+6722T>G n.220-5374T>G c.105354A>C (p.Lys35118Asn) c.79248A>C (p.Lys26416Asn) c.79107A>C (p.Lys26369Asn) c.105150A>C (p.Lys35050Asn) c.100548A>C (p.Lys33516Asn) c.100545A>C (p.Lys33515Asn) c.97587A>C (p.Lys32529Asn) c.79203A>C (p.Lys26401Asn) c.100698A>C (p.Lys33566Asn) c.100695A>C (p.Lys33565Asn) c.100128A>C (p.Lys33376Asn) c.97470A>C (p.Lys32490Asn) c.97389A>C (p.Lys32463Asn) c.79152A>C (p.Lys26384Asn) c.69006A>C (p.Lys23002Asn) | |
2 | g.178530359T>A | CA349406398 | TTN,TTN-AS1 | c.98552A>T (p.Lys32851Ile) c.79637A>T (p.Lys26546Ile) c.79436A>T (p.Lys26479Ile) c.79061A>T (p.Lys26354Ile) c.106256A>T (p.Lys35419Ile) c.101333A>T (p.Lys33778Ile) n.446+6723T>A n.220-5373T>A c.105353A>T (p.Lys35118Ile) c.79247A>T (p.Lys26416Ile) c.79106A>T (p.Lys26369Ile) c.105149A>T (p.Lys35050Ile) c.100547A>T (p.Lys33516Ile) c.100544A>T (p.Lys33515Ile) c.97586A>T (p.Lys32529Ile) c.79202A>T (p.Lys26401Ile) c.100697A>T (p.Lys33566Ile) c.100694A>T (p.Lys33565Ile) c.100127A>T (p.Lys33376Ile) c.97469A>T (p.Lys32490Ile) c.97388A>T (p.Lys32463Ile) c.79151A>T (p.Lys26384Ile) c.69005A>T (p.Lys23002Ile) | gnomAD v4 |
2 | g.178530359T>C | CA349406399 | TTN,TTN-AS1 | c.98552A>G (p.Lys32851Arg) c.79637A>G (p.Lys26546Arg) c.79436A>G (p.Lys26479Arg) c.79061A>G (p.Lys26354Arg) c.106256A>G (p.Lys35419Arg) c.101333A>G (p.Lys33778Arg) n.446+6723T>C n.220-5373T>C c.105353A>G (p.Lys35118Arg) c.79247A>G (p.Lys26416Arg) c.79106A>G (p.Lys26369Arg) c.105149A>G (p.Lys35050Arg) c.100547A>G (p.Lys33516Arg) c.100544A>G (p.Lys33515Arg) c.97586A>G (p.Lys32529Arg) c.79202A>G (p.Lys26401Arg) c.100697A>G (p.Lys33566Arg) c.100694A>G (p.Lys33565Arg) c.100127A>G (p.Lys33376Arg) c.97469A>G (p.Lys32490Arg) c.97388A>G (p.Lys32463Arg) c.79151A>G (p.Lys26384Arg) c.69005A>G (p.Lys23002Arg) | |
2 | g.178530359T>G | CA349406400 | TTN,TTN-AS1 | c.98552A>C (p.Lys32851Thr) c.79637A>C (p.Lys26546Thr) c.79436A>C (p.Lys26479Thr) c.79061A>C (p.Lys26354Thr) c.106256A>C (p.Lys35419Thr) c.101333A>C (p.Lys33778Thr) n.446+6723T>G n.220-5373T>G c.105353A>C (p.Lys35118Thr) c.79247A>C (p.Lys26416Thr) c.79106A>C (p.Lys26369Thr) c.105149A>C (p.Lys35050Thr) c.100547A>C (p.Lys33516Thr) c.100544A>C (p.Lys33515Thr) c.97586A>C (p.Lys32529Thr) c.79202A>C (p.Lys26401Thr) c.100697A>C (p.Lys33566Thr) c.100694A>C (p.Lys33565Thr) c.100127A>C (p.Lys33376Thr) c.97469A>C (p.Lys32490Thr) c.97388A>C (p.Lys32463Thr) c.79151A>C (p.Lys26384Thr) c.69005A>C (p.Lys23002Thr) | |
2 | g.178530360T>A | CA349406402 | TTN,TTN-AS1 | c.98551A>T (p.Lys32851Ter) c.79636A>T (p.Lys26546Ter) c.79435A>T (p.Lys26479Ter) c.79060A>T (p.Lys26354Ter) c.106255A>T (p.Lys35419Ter) c.101332A>T (p.Lys33778Ter) n.446+6724T>A n.220-5372T>A c.105352A>T (p.Lys35118Ter) c.79246A>T (p.Lys26416Ter) c.79105A>T (p.Lys26369Ter) c.105148A>T (p.Lys35050Ter) c.100546A>T (p.Lys33516Ter) c.100543A>T (p.Lys33515Ter) c.97585A>T (p.Lys32529Ter) c.79201A>T (p.Lys26401Ter) c.100696A>T (p.Lys33566Ter) c.100693A>T (p.Lys33565Ter) c.100126A>T (p.Lys33376Ter) c.97468A>T (p.Lys32490Ter) c.97387A>T (p.Lys32463Ter) c.79150A>T (p.Lys26384Ter) c.69004A>T (p.Lys23002Ter) | |
2 | g.178530360T>C | CA349406403 | TTN,TTN-AS1 | c.98551A>G (p.Lys32851Glu) c.79636A>G (p.Lys26546Glu) c.79435A>G (p.Lys26479Glu) c.79060A>G (p.Lys26354Glu) c.106255A>G (p.Lys35419Glu) c.101332A>G (p.Lys33778Glu) n.446+6724T>C n.220-5372T>C c.105352A>G (p.Lys35118Glu) c.79246A>G (p.Lys26416Glu) c.79105A>G (p.Lys26369Glu) c.105148A>G (p.Lys35050Glu) c.100546A>G (p.Lys33516Glu) c.100543A>G (p.Lys33515Glu) c.97585A>G (p.Lys32529Glu) c.79201A>G (p.Lys26401Glu) c.100696A>G (p.Lys33566Glu) c.100693A>G (p.Lys33565Glu) c.100126A>G (p.Lys33376Glu) c.97468A>G (p.Lys32490Glu) c.97387A>G (p.Lys32463Glu) c.79150A>G (p.Lys26384Glu) c.69004A>G (p.Lys23002Glu) | |
2 | g.178530360T>G | CA349406401 | TTN,TTN-AS1 | c.98551A>C (p.Lys32851Gln) c.79636A>C (p.Lys26546Gln) c.79435A>C (p.Lys26479Gln) c.79060A>C (p.Lys26354Gln) c.106255A>C (p.Lys35419Gln) c.101332A>C (p.Lys33778Gln) n.446+6724T>G n.220-5372T>G c.105352A>C (p.Lys35118Gln) c.79246A>C (p.Lys26416Gln) c.79105A>C (p.Lys26369Gln) c.105148A>C (p.Lys35050Gln) c.100546A>C (p.Lys33516Gln) c.100543A>C (p.Lys33515Gln) c.97585A>C (p.Lys32529Gln) c.79201A>C (p.Lys26401Gln) c.100696A>C (p.Lys33566Gln) c.100693A>C (p.Lys33565Gln) c.100126A>C (p.Lys33376Gln) c.97468A>C (p.Lys32490Gln) c.97387A>C (p.Lys32463Gln) c.79150A>C (p.Lys26384Gln) c.69004A>C (p.Lys23002Gln) | |
2 | g.178530361T>A | CA430235216 | TTN,TTN-AS1 | c.98550A>T (p.Ser32850=) c.79635A>T (p.Ser26545=) c.79434A>T (p.Ser26478=) c.79059A>T (p.Ser26353=) c.106254A>T (p.Ser35418=) c.101331A>T (p.Ser33777=) n.446+6725T>A n.220-5371T>A c.105351A>T (p.Ser35117=) c.79245A>T (p.Ser26415=) c.79104A>T (p.Ser26368=) c.105147A>T (p.Ser35049=) c.100545A>T (p.Ser33515=) c.100542A>T (p.Ser33514=) c.97584A>T (p.Ser32528=) c.79200A>T (p.Ser26400=) c.100695A>T (p.Ser33565=) c.100692A>T (p.Ser33564=) c.100125A>T (p.Ser33375=) c.97467A>T (p.Ser32489=) c.97386A>T (p.Ser32462=) c.79149A>T (p.Ser26383=) c.69003A>T (p.Ser23001=) | |
2 | g.178530361T>C | CA430235218 | TTN,TTN-AS1 | c.98550A>G (p.Ser32850=) c.79635A>G (p.Ser26545=) c.79434A>G (p.Ser26478=) c.79059A>G (p.Ser26353=) c.106254A>G (p.Ser35418=) c.101331A>G (p.Ser33777=) n.446+6725T>C n.220-5371T>C c.105351A>G (p.Ser35117=) c.79245A>G (p.Ser26415=) c.79104A>G (p.Ser26368=) c.105147A>G (p.Ser35049=) c.100545A>G (p.Ser33515=) c.100542A>G (p.Ser33514=) c.97584A>G (p.Ser32528=) c.79200A>G (p.Ser26400=) c.100695A>G (p.Ser33565=) c.100692A>G (p.Ser33564=) c.100125A>G (p.Ser33375=) c.97467A>G (p.Ser32489=) c.97386A>G (p.Ser32462=) c.79149A>G (p.Ser26383=) c.69003A>G (p.Ser23001=) | |
2 | g.178530361T>G | CA430235220 | TTN,TTN-AS1 | c.98550A>C (p.Ser32850=) c.79635A>C (p.Ser26545=) c.79434A>C (p.Ser26478=) c.79059A>C (p.Ser26353=) c.106254A>C (p.Ser35418=) c.101331A>C (p.Ser33777=) n.446+6725T>G n.220-5371T>G c.105351A>C (p.Ser35117=) c.79245A>C (p.Ser26415=) c.79104A>C (p.Ser26368=) c.105147A>C (p.Ser35049=) c.100545A>C (p.Ser33515=) c.100542A>C (p.Ser33514=) c.97584A>C (p.Ser32528=) c.79200A>C (p.Ser26400=) c.100695A>C (p.Ser33565=) c.100692A>C (p.Ser33564=) c.100125A>C (p.Ser33375=) c.97467A>C (p.Ser32489=) c.97386A>C (p.Ser32462=) c.79149A>C (p.Ser26383=) c.69003A>C (p.Ser23001=) | |
2 | g.178530362G>A | CA349406404 | TTN,TTN-AS1 | c.98549C>T (p.Ser32850Leu) c.79634C>T (p.Ser26545Leu) c.79433C>T (p.Ser26478Leu) c.79058C>T (p.Ser26353Leu) c.106253C>T (p.Ser35418Leu) c.101330C>T (p.Ser33777Leu) n.446+6726G>A n.220-5370G>A c.105350C>T (p.Ser35117Leu) c.79244C>T (p.Ser26415Leu) c.79103C>T (p.Ser26368Leu) c.105146C>T (p.Ser35049Leu) c.100544C>T (p.Ser33515Leu) c.100541C>T (p.Ser33514Leu) c.97583C>T (p.Ser32528Leu) c.79199C>T (p.Ser26400Leu) c.100694C>T (p.Ser33565Leu) c.100691C>T (p.Ser33564Leu) c.100124C>T (p.Ser33375Leu) c.97466C>T (p.Ser32489Leu) c.97385C>T (p.Ser32462Leu) c.79148C>T (p.Ser26383Leu) c.69002C>T (p.Ser23001Leu) | ClinVar dbSNP |
2 | g.178530362G>C | CA349406405 | TTN,TTN-AS1 | c.98549C>G (p.Ser32850Ter) c.79634C>G (p.Ser26545Ter) c.79433C>G (p.Ser26478Ter) c.79058C>G (p.Ser26353Ter) c.106253C>G (p.Ser35418Ter) c.101330C>G (p.Ser33777Ter) n.446+6726G>C n.220-5370G>C c.105350C>G (p.Ser35117Ter) c.79244C>G (p.Ser26415Ter) c.79103C>G (p.Ser26368Ter) c.105146C>G (p.Ser35049Ter) c.100544C>G (p.Ser33515Ter) c.100541C>G (p.Ser33514Ter) c.97583C>G (p.Ser32528Ter) c.79199C>G (p.Ser26400Ter) c.100694C>G (p.Ser33565Ter) c.100691C>G (p.Ser33564Ter) c.100124C>G (p.Ser33375Ter) c.97466C>G (p.Ser32489Ter) c.97385C>G (p.Ser32462Ter) c.79148C>G (p.Ser26383Ter) c.69002C>G (p.Ser23001Ter) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530362G= | CA1310514553 | TTN,TTN-AS1 | c.98549C= (p.Ser32850=) c.79634C= (p.Ser26545=) c.79433C= (p.Ser26478=) c.79058C= (p.Ser26353=) c.106253C= (p.Ser35418=) c.101330C= (p.Ser33777=) n.446+6726G= n.220-5370G= c.105350C= (p.Ser35117=) c.79244C= (p.Ser26415=) c.79103C= (p.Ser26368=) c.105146C= (p.Ser35049=) c.100544C= (p.Ser33515=) c.100541C= (p.Ser33514=) c.97583C= (p.Ser32528=) c.79199C= (p.Ser26400=) c.100694C= (p.Ser33565=) c.100691C= (p.Ser33564=) c.100124C= (p.Ser33375=) c.97466C= (p.Ser32489=) c.97385C= (p.Ser32462=) c.79148C= (p.Ser26383=) c.69002C= (p.Ser23001=) | |
2 | g.178530362G>T | CA349406406 | TTN,TTN-AS1 | c.98549C>A (p.Ser32850Ter) c.79634C>A (p.Ser26545Ter) c.79433C>A (p.Ser26478Ter) c.79058C>A (p.Ser26353Ter) c.106253C>A (p.Ser35418Ter) c.101330C>A (p.Ser33777Ter) n.446+6726G>T n.220-5370G>T c.105350C>A (p.Ser35117Ter) c.79244C>A (p.Ser26415Ter) c.79103C>A (p.Ser26368Ter) c.105146C>A (p.Ser35049Ter) c.100544C>A (p.Ser33515Ter) c.100541C>A (p.Ser33514Ter) c.97583C>A (p.Ser32528Ter) c.79199C>A (p.Ser26400Ter) c.100694C>A (p.Ser33565Ter) c.100691C>A (p.Ser33564Ter) c.100124C>A (p.Ser33375Ter) c.97466C>A (p.Ser32489Ter) c.97385C>A (p.Ser32462Ter) c.79148C>A (p.Ser26383Ter) c.69002C>A (p.Ser23001Ter) | |
2 | g.178530363A>C | CA349406407 | TTN,TTN-AS1 | c.98548T>G (p.Ser32850Ala) c.79633T>G (p.Ser26545Ala) c.79432T>G (p.Ser26478Ala) c.79057T>G (p.Ser26353Ala) c.106252T>G (p.Ser35418Ala) c.101329T>G (p.Ser33777Ala) n.446+6727A>C n.220-5369A>C c.105349T>G (p.Ser35117Ala) c.79243T>G (p.Ser26415Ala) c.79102T>G (p.Ser26368Ala) c.105145T>G (p.Ser35049Ala) c.100543T>G (p.Ser33515Ala) c.100540T>G (p.Ser33514Ala) c.97582T>G (p.Ser32528Ala) c.79198T>G (p.Ser26400Ala) c.100693T>G (p.Ser33565Ala) c.100690T>G (p.Ser33564Ala) c.100123T>G (p.Ser33375Ala) c.97465T>G (p.Ser32489Ala) c.97384T>G (p.Ser32462Ala) c.79147T>G (p.Ser26383Ala) c.69001T>G (p.Ser23001Ala) | |
2 | g.178530363A>G | CA349406408 | TTN,TTN-AS1 | c.98548T>C (p.Ser32850Pro) c.79633T>C (p.Ser26545Pro) c.79432T>C (p.Ser26478Pro) c.79057T>C (p.Ser26353Pro) c.106252T>C (p.Ser35418Pro) c.101329T>C (p.Ser33777Pro) n.446+6727A>G n.220-5369A>G c.105349T>C (p.Ser35117Pro) c.79243T>C (p.Ser26415Pro) c.79102T>C (p.Ser26368Pro) c.105145T>C (p.Ser35049Pro) c.100543T>C (p.Ser33515Pro) c.100540T>C (p.Ser33514Pro) c.97582T>C (p.Ser32528Pro) c.79198T>C (p.Ser26400Pro) c.100693T>C (p.Ser33565Pro) c.100690T>C (p.Ser33564Pro) c.100123T>C (p.Ser33375Pro) c.97465T>C (p.Ser32489Pro) c.97384T>C (p.Ser32462Pro) c.79147T>C (p.Ser26383Pro) c.69001T>C (p.Ser23001Pro) | |
2 | g.178530363A>T | CA349406409 | TTN,TTN-AS1 | c.98548T>A (p.Ser32850Thr) c.79633T>A (p.Ser26545Thr) c.79432T>A (p.Ser26478Thr) c.79057T>A (p.Ser26353Thr) c.106252T>A (p.Ser35418Thr) c.101329T>A (p.Ser33777Thr) n.446+6727A>T n.220-5369A>T c.105349T>A (p.Ser35117Thr) c.79243T>A (p.Ser26415Thr) c.79102T>A (p.Ser26368Thr) c.105145T>A (p.Ser35049Thr) c.100543T>A (p.Ser33515Thr) c.100540T>A (p.Ser33514Thr) c.97582T>A (p.Ser32528Thr) c.79198T>A (p.Ser26400Thr) c.100693T>A (p.Ser33565Thr) c.100690T>A (p.Ser33564Thr) c.100123T>A (p.Ser33375Thr) c.97465T>A (p.Ser32489Thr) c.97384T>A (p.Ser32462Thr) c.79147T>A (p.Ser26383Thr) c.69001T>A (p.Ser23001Thr) | |
2 | g.178530364G>A | CA60953318 | TTN,TTN-AS1 | c.98547C>T (p.Ser32849=) c.79632C>T (p.Ser26544=) c.79431C>T (p.Ser26477=) c.79056C>T (p.Ser26352=) c.106251C>T (p.Ser35417=) c.101328C>T (p.Ser33776=) n.446+6728G>A n.220-5368G>A c.105348C>T (p.Ser35116=) c.79242C>T (p.Ser26414=) c.79101C>T (p.Ser26367=) c.105144C>T (p.Ser35048=) c.100542C>T (p.Ser33514=) c.100539C>T (p.Ser33513=) c.97581C>T (p.Ser32527=) c.79197C>T (p.Ser26399=) c.100692C>T (p.Ser33564=) c.100689C>T (p.Ser33563=) c.100122C>T (p.Ser33374=) c.97464C>T (p.Ser32488=) c.97383C>T (p.Ser32461=) c.79146C>T (p.Ser26382=) c.69000C>T (p.Ser23000=) | dbSNP |
2 | g.178530364G>C | CA430235227 | TTN,TTN-AS1 | c.98547C>G (p.Ser32849=) c.79632C>G (p.Ser26544=) c.79431C>G (p.Ser26477=) c.79056C>G (p.Ser26352=) c.106251C>G (p.Ser35417=) c.101328C>G (p.Ser33776=) n.446+6728G>C n.220-5368G>C c.105348C>G (p.Ser35116=) c.79242C>G (p.Ser26414=) c.79101C>G (p.Ser26367=) c.105144C>G (p.Ser35048=) c.100542C>G (p.Ser33514=) c.100539C>G (p.Ser33513=) c.97581C>G (p.Ser32527=) c.79197C>G (p.Ser26399=) c.100692C>G (p.Ser33564=) c.100689C>G (p.Ser33563=) c.100122C>G (p.Ser33374=) c.97464C>G (p.Ser32488=) c.97383C>G (p.Ser32461=) c.79146C>G (p.Ser26382=) c.69000C>G (p.Ser23000=) | |
2 | g.178530364G= | CA1310514555 | TTN,TTN-AS1 | c.98547C= (p.Ser32849=) c.79632C= (p.Ser26544=) c.79431C= (p.Ser26477=) c.79056C= (p.Ser26352=) c.106251C= (p.Ser35417=) c.101328C= (p.Ser33776=) n.446+6728G= n.220-5368G= c.105348C= (p.Ser35116=) c.79242C= (p.Ser26414=) c.79101C= (p.Ser26367=) c.105144C= (p.Ser35048=) c.100542C= (p.Ser33514=) c.100539C= (p.Ser33513=) c.97581C= (p.Ser32527=) c.79197C= (p.Ser26399=) c.100692C= (p.Ser33564=) c.100689C= (p.Ser33563=) c.100122C= (p.Ser33374=) c.97464C= (p.Ser32488=) c.97383C= (p.Ser32461=) c.79146C= (p.Ser26382=) c.69000C= (p.Ser23000=) | |
2 | g.178530364G>T | CA430235228 | TTN,TTN-AS1 | c.98547C>A (p.Ser32849=) c.79632C>A (p.Ser26544=) c.79431C>A (p.Ser26477=) c.79056C>A (p.Ser26352=) c.106251C>A (p.Ser35417=) c.101328C>A (p.Ser33776=) n.446+6728G>T n.220-5368G>T c.105348C>A (p.Ser35116=) c.79242C>A (p.Ser26414=) c.79101C>A (p.Ser26367=) c.105144C>A (p.Ser35048=) c.100542C>A (p.Ser33514=) c.100539C>A (p.Ser33513=) c.97581C>A (p.Ser32527=) c.79197C>A (p.Ser26399=) c.100692C>A (p.Ser33564=) c.100689C>A (p.Ser33563=) c.100122C>A (p.Ser33374=) c.97464C>A (p.Ser32488=) c.97383C>A (p.Ser32461=) c.79146C>A (p.Ser26382=) c.69000C>A (p.Ser23000=) | |
2 | g.178530365G>A | CA349406410 | TTN,TTN-AS1 | c.98546C>T (p.Ser32849Phe) c.79631C>T (p.Ser26544Phe) c.79430C>T (p.Ser26477Phe) c.79055C>T (p.Ser26352Phe) c.106250C>T (p.Ser35417Phe) c.101327C>T (p.Ser33776Phe) n.446+6729G>A n.220-5367G>A c.105347C>T (p.Ser35116Phe) c.79241C>T (p.Ser26414Phe) c.79100C>T (p.Ser26367Phe) c.105143C>T (p.Ser35048Phe) c.100541C>T (p.Ser33514Phe) c.100538C>T (p.Ser33513Phe) c.97580C>T (p.Ser32527Phe) c.79196C>T (p.Ser26399Phe) c.100691C>T (p.Ser33564Phe) c.100688C>T (p.Ser33563Phe) c.100121C>T (p.Ser33374Phe) c.97463C>T (p.Ser32488Phe) c.97382C>T (p.Ser32461Phe) c.79145C>T (p.Ser26382Phe) c.68999C>T (p.Ser23000Phe) | dbSNP gnomAD v4 |
2 | g.178530365G>C | CA349406411 | TTN,TTN-AS1 | c.98546C>G (p.Ser32849Cys) c.79631C>G (p.Ser26544Cys) c.79430C>G (p.Ser26477Cys) c.79055C>G (p.Ser26352Cys) c.106250C>G (p.Ser35417Cys) c.101327C>G (p.Ser33776Cys) n.446+6729G>C n.220-5367G>C c.105347C>G (p.Ser35116Cys) c.79241C>G (p.Ser26414Cys) c.79100C>G (p.Ser26367Cys) c.105143C>G (p.Ser35048Cys) c.100541C>G (p.Ser33514Cys) c.100538C>G (p.Ser33513Cys) c.97580C>G (p.Ser32527Cys) c.79196C>G (p.Ser26399Cys) c.100691C>G (p.Ser33564Cys) c.100688C>G (p.Ser33563Cys) c.100121C>G (p.Ser33374Cys) c.97463C>G (p.Ser32488Cys) c.97382C>G (p.Ser32461Cys) c.79145C>G (p.Ser26382Cys) c.68999C>G (p.Ser23000Cys) | |
2 | g.178530365G>T | CA349406412 | TTN,TTN-AS1 | c.98546C>A (p.Ser32849Tyr) c.79631C>A (p.Ser26544Tyr) c.79430C>A (p.Ser26477Tyr) c.79055C>A (p.Ser26352Tyr) c.106250C>A (p.Ser35417Tyr) c.101327C>A (p.Ser33776Tyr) n.446+6729G>T n.220-5367G>T c.105347C>A (p.Ser35116Tyr) c.79241C>A (p.Ser26414Tyr) c.79100C>A (p.Ser26367Tyr) c.105143C>A (p.Ser35048Tyr) c.100541C>A (p.Ser33514Tyr) c.100538C>A (p.Ser33513Tyr) c.97580C>A (p.Ser32527Tyr) c.79196C>A (p.Ser26399Tyr) c.100691C>A (p.Ser33564Tyr) c.100688C>A (p.Ser33563Tyr) c.100121C>A (p.Ser33374Tyr) c.97463C>A (p.Ser32488Tyr) c.97382C>A (p.Ser32461Tyr) c.79145C>A (p.Ser26382Tyr) c.68999C>A (p.Ser23000Tyr) | |
2 | g.178530366A>C | CA349406413 | TTN,TTN-AS1 | c.98545T>G (p.Ser32849Ala) c.79630T>G (p.Ser26544Ala) c.79429T>G (p.Ser26477Ala) c.79054T>G (p.Ser26352Ala) c.106249T>G (p.Ser35417Ala) c.101326T>G (p.Ser33776Ala) n.446+6730A>C n.220-5366A>C c.105346T>G (p.Ser35116Ala) c.79240T>G (p.Ser26414Ala) c.79099T>G (p.Ser26367Ala) c.105142T>G (p.Ser35048Ala) c.100540T>G (p.Ser33514Ala) c.100537T>G (p.Ser33513Ala) c.97579T>G (p.Ser32527Ala) c.79195T>G (p.Ser26399Ala) c.100690T>G (p.Ser33564Ala) c.100687T>G (p.Ser33563Ala) c.100120T>G (p.Ser33374Ala) c.97462T>G (p.Ser32488Ala) c.97381T>G (p.Ser32461Ala) c.79144T>G (p.Ser26382Ala) c.68998T>G (p.Ser23000Ala) | |
2 | g.178530366A>G | CA349406414 | TTN,TTN-AS1 | c.98545T>C (p.Ser32849Pro) c.79630T>C (p.Ser26544Pro) c.79429T>C (p.Ser26477Pro) c.79054T>C (p.Ser26352Pro) c.106249T>C (p.Ser35417Pro) c.101326T>C (p.Ser33776Pro) n.446+6730A>G n.220-5366A>G c.105346T>C (p.Ser35116Pro) c.79240T>C (p.Ser26414Pro) c.79099T>C (p.Ser26367Pro) c.105142T>C (p.Ser35048Pro) c.100540T>C (p.Ser33514Pro) c.100537T>C (p.Ser33513Pro) c.97579T>C (p.Ser32527Pro) c.79195T>C (p.Ser26399Pro) c.100690T>C (p.Ser33564Pro) c.100687T>C (p.Ser33563Pro) c.100120T>C (p.Ser33374Pro) c.97462T>C (p.Ser32488Pro) c.97381T>C (p.Ser32461Pro) c.79144T>C (p.Ser26382Pro) c.68998T>C (p.Ser23000Pro) | |
2 | g.178530366A>T | CA349406415 | TTN,TTN-AS1 | c.98545T>A (p.Ser32849Thr) c.79630T>A (p.Ser26544Thr) c.79429T>A (p.Ser26477Thr) c.79054T>A (p.Ser26352Thr) c.106249T>A (p.Ser35417Thr) c.101326T>A (p.Ser33776Thr) n.446+6730A>T n.220-5366A>T c.105346T>A (p.Ser35116Thr) c.79240T>A (p.Ser26414Thr) c.79099T>A (p.Ser26367Thr) c.105142T>A (p.Ser35048Thr) c.100540T>A (p.Ser33514Thr) c.100537T>A (p.Ser33513Thr) c.97579T>A (p.Ser32527Thr) c.79195T>A (p.Ser26399Thr) c.100690T>A (p.Ser33564Thr) c.100687T>A (p.Ser33563Thr) c.100120T>A (p.Ser33374Thr) c.97462T>A (p.Ser32488Thr) c.97381T>A (p.Ser32461Thr) c.79144T>A (p.Ser26382Thr) c.68998T>A (p.Ser23000Thr) | |
2 | g.178530367A>C | CA349406417 | TTN,TTN-AS1 | c.98544T>G (p.Ile32848Met) c.79629T>G (p.Ile26543Met) c.79428T>G (p.Ile26476Met) c.79053T>G (p.Ile26351Met) c.106248T>G (p.Ile35416Met) c.101325T>G (p.Ile33775Met) n.446+6731A>C n.220-5365A>C c.105345T>G (p.Ile35115Met) c.79239T>G (p.Ile26413Met) c.79098T>G (p.Ile26366Met) c.105141T>G (p.Ile35047Met) c.100539T>G (p.Ile33513Met) c.100536T>G (p.Ile33512Met) c.97578T>G (p.Ile32526Met) c.79194T>G (p.Ile26398Met) c.100689T>G (p.Ile33563Met) c.100686T>G (p.Ile33562Met) c.100119T>G (p.Ile33373Met) c.97461T>G (p.Ile32487Met) c.97380T>G (p.Ile32460Met) c.79143T>G (p.Ile26381Met) c.68997T>G (p.Ile22999Met) | gnomAD v4 |
2 | g.178530367A>G | CA430235232 | TTN,TTN-AS1 | c.98544T>C (p.Ile32848=) c.79629T>C (p.Ile26543=) c.79428T>C (p.Ile26476=) c.79053T>C (p.Ile26351=) c.106248T>C (p.Ile35416=) c.101325T>C (p.Ile33775=) n.446+6731A>G n.220-5365A>G c.105345T>C (p.Ile35115=) c.79239T>C (p.Ile26413=) c.79098T>C (p.Ile26366=) c.105141T>C (p.Ile35047=) c.100539T>C (p.Ile33513=) c.100536T>C (p.Ile33512=) c.97578T>C (p.Ile32526=) c.79194T>C (p.Ile26398=) c.100689T>C (p.Ile33563=) c.100686T>C (p.Ile33562=) c.100119T>C (p.Ile33373=) c.97461T>C (p.Ile32487=) c.97380T>C (p.Ile32460=) c.79143T>C (p.Ile26381=) c.68997T>C (p.Ile22999=) | |
2 | g.178530367A>T | CA430235231 | TTN,TTN-AS1 | c.98544T>A (p.Ile32848=) c.79629T>A (p.Ile26543=) c.79428T>A (p.Ile26476=) c.79053T>A (p.Ile26351=) c.106248T>A (p.Ile35416=) c.101325T>A (p.Ile33775=) n.446+6731A>T n.220-5365A>T c.105345T>A (p.Ile35115=) c.79239T>A (p.Ile26413=) c.79098T>A (p.Ile26366=) c.105141T>A (p.Ile35047=) c.100539T>A (p.Ile33513=) c.100536T>A (p.Ile33512=) c.97578T>A (p.Ile32526=) c.79194T>A (p.Ile26398=) c.100689T>A (p.Ile33563=) c.100686T>A (p.Ile33562=) c.100119T>A (p.Ile33373=) c.97461T>A (p.Ile32487=) c.97380T>A (p.Ile32460=) c.79143T>A (p.Ile26381=) c.68997T>A (p.Ile22999=) | |
2 | g.178530368A= | CA1310514557 | TTN,TTN-AS1 | c.98543T= (p.Ile32848=) c.79628T= (p.Ile26543=) c.79427T= (p.Ile26476=) c.79052T= (p.Ile26351=) c.106247T= (p.Ile35416=) c.101324T= (p.Ile33775=) n.446+6732A= n.220-5364A= c.105344T= (p.Ile35115=) c.79238T= (p.Ile26413=) c.79097T= (p.Ile26366=) c.105140T= (p.Ile35047=) c.100538T= (p.Ile33513=) c.100535T= (p.Ile33512=) c.97577T= (p.Ile32526=) c.79193T= (p.Ile26398=) c.100688T= (p.Ile33563=) c.100685T= (p.Ile33562=) c.100118T= (p.Ile33373=) c.97460T= (p.Ile32487=) c.97379T= (p.Ile32460=) c.79142T= (p.Ile26381=) c.68996T= (p.Ile22999=) | |
2 | g.178530368A>C | CA349406433 | TTN,TTN-AS1 | c.98543T>G (p.Ile32848Ser) c.79628T>G (p.Ile26543Ser) c.79427T>G (p.Ile26476Ser) c.79052T>G (p.Ile26351Ser) c.106247T>G (p.Ile35416Ser) c.101324T>G (p.Ile33775Ser) n.446+6732A>C n.220-5364A>C c.105344T>G (p.Ile35115Ser) c.79238T>G (p.Ile26413Ser) c.79097T>G (p.Ile26366Ser) c.105140T>G (p.Ile35047Ser) c.100538T>G (p.Ile33513Ser) c.100535T>G (p.Ile33512Ser) c.97577T>G (p.Ile32526Ser) c.79193T>G (p.Ile26398Ser) c.100688T>G (p.Ile33563Ser) c.100685T>G (p.Ile33562Ser) c.100118T>G (p.Ile33373Ser) c.97460T>G (p.Ile32487Ser) c.97379T>G (p.Ile32460Ser) c.79142T>G (p.Ile26381Ser) c.68996T>G (p.Ile22999Ser) | gnomAD v4 |
2 | g.178530368A>G | CA349406431 | TTN,TTN-AS1 | c.98543T>C (p.Ile32848Thr) c.79628T>C (p.Ile26543Thr) c.79427T>C (p.Ile26476Thr) c.79052T>C (p.Ile26351Thr) c.106247T>C (p.Ile35416Thr) c.101324T>C (p.Ile33775Thr) n.446+6732A>G n.220-5364A>G c.105344T>C (p.Ile35115Thr) c.79238T>C (p.Ile26413Thr) c.79097T>C (p.Ile26366Thr) c.105140T>C (p.Ile35047Thr) c.100538T>C (p.Ile33513Thr) c.100535T>C (p.Ile33512Thr) c.97577T>C (p.Ile32526Thr) c.79193T>C (p.Ile26398Thr) c.100688T>C (p.Ile33563Thr) c.100685T>C (p.Ile33562Thr) c.100118T>C (p.Ile33373Thr) c.97460T>C (p.Ile32487Thr) c.97379T>C (p.Ile32460Thr) c.79142T>C (p.Ile26381Thr) c.68996T>C (p.Ile22999Thr) | dbSNP |
2 | g.178530368A>T | CA349406419 | TTN,TTN-AS1 | c.98543T>A (p.Ile32848Asn) c.79628T>A (p.Ile26543Asn) c.79427T>A (p.Ile26476Asn) c.79052T>A (p.Ile26351Asn) c.106247T>A (p.Ile35416Asn) c.101324T>A (p.Ile33775Asn) n.446+6732A>T n.220-5364A>T c.105344T>A (p.Ile35115Asn) c.79238T>A (p.Ile26413Asn) c.79097T>A (p.Ile26366Asn) c.105140T>A (p.Ile35047Asn) c.100538T>A (p.Ile33513Asn) c.100535T>A (p.Ile33512Asn) c.97577T>A (p.Ile32526Asn) c.79193T>A (p.Ile26398Asn) c.100688T>A (p.Ile33563Asn) c.100685T>A (p.Ile33562Asn) c.100118T>A (p.Ile33373Asn) c.97460T>A (p.Ile32487Asn) c.97379T>A (p.Ile32460Asn) c.79142T>A (p.Ile26381Asn) c.68996T>A (p.Ile22999Asn) | |
2 | g.178530368_178530383delinsATTGGTTCAGGAGCTT | CA1310514558 | TTN,TTN-AS1 | c.98528_98543delinsAAGCTCCTGAACCAAT (p.Lys32843=) c.79613_79628delinsAAGCTCCTGAACCAAT (p.Lys26538=) c.79412_79427delinsAAGCTCCTGAACCAAT (p.Lys26471=) c.79037_79052delinsAAGCTCCTGAACCAAT (p.Lys26346=) c.106232_106247delinsAAGCTCCTGAACCAAT (p.Lys35411=) c.101309_101324delinsAAGCTCCTGAACCAAT (p.Lys33770=) n.446+6732_446+6747delinsATTGGTTCAGGAGCTT n.220-5364_220-5349delinsATTGGTTCAGGAGCTT c.105329_105344delinsAAGCTCCTGAACCAAT (p.Lys35110=) c.79223_79238delinsAAGCTCCTGAACCAAT (p.Lys26408=) c.79082_79097delinsAAGCTCCTGAACCAAT (p.Lys26361=) c.105125_105140delinsAAGCTCCTGAACCAAT (p.Lys35042=) c.100523_100538delinsAAGCTCCTGAACCAAT (p.Lys33508=) c.100520_100535delinsAAGCTCCTGAACCAAT (p.Lys33507=) c.97562_97577delinsAAGCTCCTGAACCAAT (p.Lys32521=) c.79178_79193delinsAAGCTCCTGAACCAAT (p.Lys26393=) c.100673_100688delinsAAGCTCCTGAACCAAT (p.Lys33558=) c.100670_100685delinsAAGCTCCTGAACCAAT (p.Lys33557=) c.100103_100118delinsAAGCTCCTGAACCAAT (p.Lys33368=) c.97445_97460delinsAAGCTCCTGAACCAAT (p.Lys32482=) c.97364_97379delinsAAGCTCCTGAACCAAT (p.Lys32455=) c.79127_79142delinsAAGCTCCTGAACCAAT (p.Lys26376=) c.68981_68996delinsAAGCTCCTGAACCAAT (p.Lys22994=) | |
2 | g.178530369T>A | CA349406437 | TTN,TTN-AS1 | c.98542A>T (p.Ile32848Phe) c.79627A>T (p.Ile26543Phe) c.79426A>T (p.Ile26476Phe) c.79051A>T (p.Ile26351Phe) c.106246A>T (p.Ile35416Phe) c.101323A>T (p.Ile33775Phe) n.446+6733T>A n.220-5363T>A c.105343A>T (p.Ile35115Phe) c.79237A>T (p.Ile26413Phe) c.79096A>T (p.Ile26366Phe) c.105139A>T (p.Ile35047Phe) c.100537A>T (p.Ile33513Phe) c.100534A>T (p.Ile33512Phe) c.97576A>T (p.Ile32526Phe) c.79192A>T (p.Ile26398Phe) c.100687A>T (p.Ile33563Phe) c.100684A>T (p.Ile33562Phe) c.100117A>T (p.Ile33373Phe) c.97459A>T (p.Ile32487Phe) c.97378A>T (p.Ile32460Phe) c.79141A>T (p.Ile26381Phe) c.68995A>T (p.Ile22999Phe) | |
2 | g.178530369T>C | CA349406438 | TTN,TTN-AS1 | c.98542A>G (p.Ile32848Val) c.79627A>G (p.Ile26543Val) c.79426A>G (p.Ile26476Val) c.79051A>G (p.Ile26351Val) c.106246A>G (p.Ile35416Val) c.101323A>G (p.Ile33775Val) n.446+6733T>C n.220-5363T>C c.105343A>G (p.Ile35115Val) c.79237A>G (p.Ile26413Val) c.79096A>G (p.Ile26366Val) c.105139A>G (p.Ile35047Val) c.100537A>G (p.Ile33513Val) c.100534A>G (p.Ile33512Val) c.97576A>G (p.Ile32526Val) c.79192A>G (p.Ile26398Val) c.100687A>G (p.Ile33563Val) c.100684A>G (p.Ile33562Val) c.100117A>G (p.Ile33373Val) c.97459A>G (p.Ile32487Val) c.97378A>G (p.Ile32460Val) c.79141A>G (p.Ile26381Val) c.68995A>G (p.Ile22999Val) | |
2 | g.178530369T>G | CA349406439 | TTN,TTN-AS1 | c.98542A>C (p.Ile32848Leu) c.79627A>C (p.Ile26543Leu) c.79426A>C (p.Ile26476Leu) c.79051A>C (p.Ile26351Leu) c.106246A>C (p.Ile35416Leu) c.101323A>C (p.Ile33775Leu) n.446+6733T>G n.220-5363T>G c.105343A>C (p.Ile35115Leu) c.79237A>C (p.Ile26413Leu) c.79096A>C (p.Ile26366Leu) c.105139A>C (p.Ile35047Leu) c.100537A>C (p.Ile33513Leu) c.100534A>C (p.Ile33512Leu) c.97576A>C (p.Ile32526Leu) c.79192A>C (p.Ile26398Leu) c.100687A>C (p.Ile33563Leu) c.100684A>C (p.Ile33562Leu) c.100117A>C (p.Ile33373Leu) c.97459A>C (p.Ile32487Leu) c.97378A>C (p.Ile32460Leu) c.79141A>C (p.Ile26381Leu) c.68995A>C (p.Ile22999Leu) | |
2 | g.178530378_178530392del | CA538434977 | TTN,TTN-AS1 | c.98528_98542del (p.Lys32843_Pro32847del) c.79613_79627del (p.Lys26538_Pro26542del) c.79412_79426del (p.Lys26471_Pro26475del) c.79037_79051del (p.Lys26346_Pro26350del) c.106232_106246del (p.Lys35411_Pro35415del) c.101309_101323del (p.Lys33770_Pro33774del) n.446+6742_446+6756del n.220-5354_220-5340del c.105329_105343del (p.Lys35110_Pro35114del) c.79223_79237del (p.Lys26408_Pro26412del) c.79082_79096del (p.Lys26361_Pro26365del) c.105125_105139del (p.Lys35042_Pro35046del) c.100523_100537del (p.Lys33508_Pro33512del) c.100520_100534del (p.Lys33507_Pro33511del) c.97562_97576del (p.Lys32521_Pro32525del) c.79178_79192del (p.Lys26393_Pro26397del) c.100673_100687del (p.Lys33558_Pro33562del) c.100670_100684del (p.Lys33557_Pro33561del) c.100103_100117del (p.Lys33368_Pro33372del) c.97445_97459del (p.Lys32482_Pro32486del) c.97364_97378del (p.Lys32455_Pro32459del) c.79127_79141del (p.Lys26376_Pro26380del) c.68981_68995del (p.Lys22994_Pro22998del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530370T>A | CA430235239 | TTN,TTN-AS1 | c.98541A>T (p.Pro32847=) c.79626A>T (p.Pro26542=) c.79425A>T (p.Pro26475=) c.79050A>T (p.Pro26350=) c.106245A>T (p.Pro35415=) c.101322A>T (p.Pro33774=) n.446+6734T>A n.220-5362T>A c.105342A>T (p.Pro35114=) c.79236A>T (p.Pro26412=) c.79095A>T (p.Pro26365=) c.105138A>T (p.Pro35046=) c.100536A>T (p.Pro33512=) c.100533A>T (p.Pro33511=) c.97575A>T (p.Pro32525=) c.79191A>T (p.Pro26397=) c.100686A>T (p.Pro33562=) c.100683A>T (p.Pro33561=) c.100116A>T (p.Pro33372=) c.97458A>T (p.Pro32486=) c.97377A>T (p.Pro32459=) c.79140A>T (p.Pro26380=) c.68994A>T (p.Pro22998=) | |
2 | g.178530370T>C | CA430235236 | TTN,TTN-AS1 | c.98541A>G (p.Pro32847=) c.79626A>G (p.Pro26542=) c.79425A>G (p.Pro26475=) c.79050A>G (p.Pro26350=) c.106245A>G (p.Pro35415=) c.101322A>G (p.Pro33774=) n.446+6734T>C n.220-5362T>C c.105342A>G (p.Pro35114=) c.79236A>G (p.Pro26412=) c.79095A>G (p.Pro26365=) c.105138A>G (p.Pro35046=) c.100536A>G (p.Pro33512=) c.100533A>G (p.Pro33511=) c.97575A>G (p.Pro32525=) c.79191A>G (p.Pro26397=) c.100686A>G (p.Pro33562=) c.100683A>G (p.Pro33561=) c.100116A>G (p.Pro33372=) c.97458A>G (p.Pro32486=) c.97377A>G (p.Pro32459=) c.79140A>G (p.Pro26380=) c.68994A>G (p.Pro22998=) | gnomAD v4 |
2 | g.178530370T>G | CA430235237 | TTN,TTN-AS1 | c.98541A>C (p.Pro32847=) c.79626A>C (p.Pro26542=) c.79425A>C (p.Pro26475=) c.79050A>C (p.Pro26350=) c.106245A>C (p.Pro35415=) c.101322A>C (p.Pro33774=) n.446+6734T>G n.220-5362T>G c.105342A>C (p.Pro35114=) c.79236A>C (p.Pro26412=) c.79095A>C (p.Pro26365=) c.105138A>C (p.Pro35046=) c.100536A>C (p.Pro33512=) c.100533A>C (p.Pro33511=) c.97575A>C (p.Pro32525=) c.79191A>C (p.Pro26397=) c.100686A>C (p.Pro33562=) c.100683A>C (p.Pro33561=) c.100116A>C (p.Pro33372=) c.97458A>C (p.Pro32486=) c.97377A>C (p.Pro32459=) c.79140A>C (p.Pro26380=) c.68994A>C (p.Pro22998=) | |
2 | g.178530371G>A | CA349406440 | TTN,TTN-AS1 | c.98540C>T (p.Pro32847Leu) c.79625C>T (p.Pro26542Leu) c.79424C>T (p.Pro26475Leu) c.79049C>T (p.Pro26350Leu) c.106244C>T (p.Pro35415Leu) c.101321C>T (p.Pro33774Leu) n.446+6735G>A n.220-5361G>A c.105341C>T (p.Pro35114Leu) c.79235C>T (p.Pro26412Leu) c.79094C>T (p.Pro26365Leu) c.105137C>T (p.Pro35046Leu) c.100535C>T (p.Pro33512Leu) c.100532C>T (p.Pro33511Leu) c.97574C>T (p.Pro32525Leu) c.79190C>T (p.Pro26397Leu) c.100685C>T (p.Pro33562Leu) c.100682C>T (p.Pro33561Leu) c.100115C>T (p.Pro33372Leu) c.97457C>T (p.Pro32486Leu) c.97376C>T (p.Pro32459Leu) c.79139C>T (p.Pro26380Leu) c.68993C>T (p.Pro22998Leu) | gnomAD v4 |
2 | g.178530371G>C | CA349406443 | TTN,TTN-AS1 | c.98540C>G (p.Pro32847Arg) c.79625C>G (p.Pro26542Arg) c.79424C>G (p.Pro26475Arg) c.79049C>G (p.Pro26350Arg) c.106244C>G (p.Pro35415Arg) c.101321C>G (p.Pro33774Arg) n.446+6735G>C n.220-5361G>C c.105341C>G (p.Pro35114Arg) c.79235C>G (p.Pro26412Arg) c.79094C>G (p.Pro26365Arg) c.105137C>G (p.Pro35046Arg) c.100535C>G (p.Pro33512Arg) c.100532C>G (p.Pro33511Arg) c.97574C>G (p.Pro32525Arg) c.79190C>G (p.Pro26397Arg) c.100685C>G (p.Pro33562Arg) c.100682C>G (p.Pro33561Arg) c.100115C>G (p.Pro33372Arg) c.97457C>G (p.Pro32486Arg) c.97376C>G (p.Pro32459Arg) c.79139C>G (p.Pro26380Arg) c.68993C>G (p.Pro22998Arg) | |
2 | g.178530371G>T | CA349406445 | TTN,TTN-AS1 | c.98540C>A (p.Pro32847Gln) c.79625C>A (p.Pro26542Gln) c.79424C>A (p.Pro26475Gln) c.79049C>A (p.Pro26350Gln) c.106244C>A (p.Pro35415Gln) c.101321C>A (p.Pro33774Gln) n.446+6735G>T n.220-5361G>T c.105341C>A (p.Pro35114Gln) c.79235C>A (p.Pro26412Gln) c.79094C>A (p.Pro26365Gln) c.105137C>A (p.Pro35046Gln) c.100535C>A (p.Pro33512Gln) c.100532C>A (p.Pro33511Gln) c.97574C>A (p.Pro32525Gln) c.79190C>A (p.Pro26397Gln) c.100685C>A (p.Pro33562Gln) c.100682C>A (p.Pro33561Gln) c.100115C>A (p.Pro33372Gln) c.97457C>A (p.Pro32486Gln) c.97376C>A (p.Pro32459Gln) c.79139C>A (p.Pro26380Gln) c.68993C>A (p.Pro22998Gln) | |
2 | g.178530372G>A | CA349406448 | TTN,TTN-AS1 | c.98539C>T (p.Pro32847Ser) c.79624C>T (p.Pro26542Ser) c.79423C>T (p.Pro26475Ser) c.79048C>T (p.Pro26350Ser) c.106243C>T (p.Pro35415Ser) c.101320C>T (p.Pro33774Ser) n.446+6736G>A n.220-5360G>A c.105340C>T (p.Pro35114Ser) c.79234C>T (p.Pro26412Ser) c.79093C>T (p.Pro26365Ser) c.105136C>T (p.Pro35046Ser) c.100534C>T (p.Pro33512Ser) c.100531C>T (p.Pro33511Ser) c.97573C>T (p.Pro32525Ser) c.79189C>T (p.Pro26397Ser) c.100684C>T (p.Pro33562Ser) c.100681C>T (p.Pro33561Ser) c.100114C>T (p.Pro33372Ser) c.97456C>T (p.Pro32486Ser) c.97375C>T (p.Pro32459Ser) c.79138C>T (p.Pro26380Ser) c.68992C>T (p.Pro22998Ser) | dbSNP |
2 | g.178530372G>C | CA349406450 | TTN,TTN-AS1 | c.98539C>G (p.Pro32847Ala) c.79624C>G (p.Pro26542Ala) c.79423C>G (p.Pro26475Ala) c.79048C>G (p.Pro26350Ala) c.106243C>G (p.Pro35415Ala) c.101320C>G (p.Pro33774Ala) n.446+6736G>C n.220-5360G>C c.105340C>G (p.Pro35114Ala) c.79234C>G (p.Pro26412Ala) c.79093C>G (p.Pro26365Ala) c.105136C>G (p.Pro35046Ala) c.100534C>G (p.Pro33512Ala) c.100531C>G (p.Pro33511Ala) c.97573C>G (p.Pro32525Ala) c.79189C>G (p.Pro26397Ala) c.100684C>G (p.Pro33562Ala) c.100681C>G (p.Pro33561Ala) c.100114C>G (p.Pro33372Ala) c.97456C>G (p.Pro32486Ala) c.97375C>G (p.Pro32459Ala) c.79138C>G (p.Pro26380Ala) c.68992C>G (p.Pro22998Ala) | |
2 | g.178530372G= | CA1310514560 | TTN,TTN-AS1 | c.98539C= (p.Pro32847=) c.79624C= (p.Pro26542=) c.79423C= (p.Pro26475=) c.79048C= (p.Pro26350=) c.106243C= (p.Pro35415=) c.101320C= (p.Pro33774=) n.446+6736G= n.220-5360G= c.105340C= (p.Pro35114=) c.79234C= (p.Pro26412=) c.79093C= (p.Pro26365=) c.105136C= (p.Pro35046=) c.100534C= (p.Pro33512=) c.100531C= (p.Pro33511=) c.97573C= (p.Pro32525=) c.79189C= (p.Pro26397=) c.100684C= (p.Pro33562=) c.100681C= (p.Pro33561=) c.100114C= (p.Pro33372=) c.97456C= (p.Pro32486=) c.97375C= (p.Pro32459=) c.79138C= (p.Pro26380=) c.68992C= (p.Pro22998=) | |
2 | g.178530372G>T | CA349406452 | TTN,TTN-AS1 | c.98539C>A (p.Pro32847Thr) c.79624C>A (p.Pro26542Thr) c.79423C>A (p.Pro26475Thr) c.79048C>A (p.Pro26350Thr) c.106243C>A (p.Pro35415Thr) c.101320C>A (p.Pro33774Thr) n.446+6736G>T n.220-5360G>T c.105340C>A (p.Pro35114Thr) c.79234C>A (p.Pro26412Thr) c.79093C>A (p.Pro26365Thr) c.105136C>A (p.Pro35046Thr) c.100534C>A (p.Pro33512Thr) c.100531C>A (p.Pro33511Thr) c.97573C>A (p.Pro32525Thr) c.79189C>A (p.Pro26397Thr) c.100684C>A (p.Pro33562Thr) c.100681C>A (p.Pro33561Thr) c.100114C>A (p.Pro33372Thr) c.97456C>A (p.Pro32486Thr) c.97375C>A (p.Pro32459Thr) c.79138C>A (p.Pro26380Thr) c.68992C>A (p.Pro22998Thr) | |
2 | g.178530373T>A | CA349406454 | TTN,TTN-AS1 | c.98538A>T (p.Glu32846Asp) c.79623A>T (p.Glu26541Asp) c.79422A>T (p.Glu26474Asp) c.79047A>T (p.Glu26349Asp) c.106242A>T (p.Glu35414Asp) c.101319A>T (p.Glu33773Asp) n.446+6737T>A n.220-5359T>A c.105339A>T (p.Glu35113Asp) c.79233A>T (p.Glu26411Asp) c.79092A>T (p.Glu26364Asp) c.105135A>T (p.Glu35045Asp) c.100533A>T (p.Glu33511Asp) c.100530A>T (p.Glu33510Asp) c.97572A>T (p.Glu32524Asp) c.79188A>T (p.Glu26396Asp) c.100683A>T (p.Glu33561Asp) c.100680A>T (p.Glu33560Asp) c.100113A>T (p.Glu33371Asp) c.97455A>T (p.Glu32485Asp) c.97374A>T (p.Glu32458Asp) c.79137A>T (p.Glu26379Asp) c.68991A>T (p.Glu22997Asp) | |
2 | g.178530373T>C | CA430235244 | TTN,TTN-AS1 | c.98538A>G (p.Glu32846=) c.79623A>G (p.Glu26541=) c.79422A>G (p.Glu26474=) c.79047A>G (p.Glu26349=) c.106242A>G (p.Glu35414=) c.101319A>G (p.Glu33773=) n.446+6737T>C n.220-5359T>C c.105339A>G (p.Glu35113=) c.79233A>G (p.Glu26411=) c.79092A>G (p.Glu26364=) c.105135A>G (p.Glu35045=) c.100533A>G (p.Glu33511=) c.100530A>G (p.Glu33510=) c.97572A>G (p.Glu32524=) c.79188A>G (p.Glu26396=) c.100683A>G (p.Glu33561=) c.100680A>G (p.Glu33560=) c.100113A>G (p.Glu33371=) c.97455A>G (p.Glu32485=) c.97374A>G (p.Glu32458=) c.79137A>G (p.Glu26379=) c.68991A>G (p.Glu22997=) | |
2 | g.178530373T>G | CA349406456 | TTN,TTN-AS1 | c.98538A>C (p.Glu32846Asp) c.79623A>C (p.Glu26541Asp) c.79422A>C (p.Glu26474Asp) c.79047A>C (p.Glu26349Asp) c.106242A>C (p.Glu35414Asp) c.101319A>C (p.Glu33773Asp) n.446+6737T>G n.220-5359T>G c.105339A>C (p.Glu35113Asp) c.79233A>C (p.Glu26411Asp) c.79092A>C (p.Glu26364Asp) c.105135A>C (p.Glu35045Asp) c.100533A>C (p.Glu33511Asp) c.100530A>C (p.Glu33510Asp) c.97572A>C (p.Glu32524Asp) c.79188A>C (p.Glu26396Asp) c.100683A>C (p.Glu33561Asp) c.100680A>C (p.Glu33560Asp) c.100113A>C (p.Glu33371Asp) c.97455A>C (p.Glu32485Asp) c.97374A>C (p.Glu32458Asp) c.79137A>C (p.Glu26379Asp) c.68991A>C (p.Glu22997Asp) | gnomAD v4 |
2 | g.178530374T>A | CA349406459 | TTN,TTN-AS1 | c.98537A>T (p.Glu32846Val) c.79622A>T (p.Glu26541Val) c.79421A>T (p.Glu26474Val) c.79046A>T (p.Glu26349Val) c.106241A>T (p.Glu35414Val) c.101318A>T (p.Glu33773Val) n.446+6738T>A n.220-5358T>A c.105338A>T (p.Glu35113Val) c.79232A>T (p.Glu26411Val) c.79091A>T (p.Glu26364Val) c.105134A>T (p.Glu35045Val) c.100532A>T (p.Glu33511Val) c.100529A>T (p.Glu33510Val) c.97571A>T (p.Glu32524Val) c.79187A>T (p.Glu26396Val) c.100682A>T (p.Glu33561Val) c.100679A>T (p.Glu33560Val) c.100112A>T (p.Glu33371Val) c.97454A>T (p.Glu32485Val) c.97373A>T (p.Glu32458Val) c.79136A>T (p.Glu26379Val) c.68990A>T (p.Glu22997Val) | |
2 | g.178530374T>C | CA349406460 | TTN,TTN-AS1 | c.98537A>G (p.Glu32846Gly) c.79622A>G (p.Glu26541Gly) c.79421A>G (p.Glu26474Gly) c.79046A>G (p.Glu26349Gly) c.106241A>G (p.Glu35414Gly) c.101318A>G (p.Glu33773Gly) n.446+6738T>C n.220-5358T>C c.105338A>G (p.Glu35113Gly) c.79232A>G (p.Glu26411Gly) c.79091A>G (p.Glu26364Gly) c.105134A>G (p.Glu35045Gly) c.100532A>G (p.Glu33511Gly) c.100529A>G (p.Glu33510Gly) c.97571A>G (p.Glu32524Gly) c.79187A>G (p.Glu26396Gly) c.100682A>G (p.Glu33561Gly) c.100679A>G (p.Glu33560Gly) c.100112A>G (p.Glu33371Gly) c.97454A>G (p.Glu32485Gly) c.97373A>G (p.Glu32458Gly) c.79136A>G (p.Glu26379Gly) c.68990A>G (p.Glu22997Gly) | |
2 | g.178530374T>G | CA349406462 | TTN,TTN-AS1 | c.98537A>C (p.Glu32846Ala) c.79622A>C (p.Glu26541Ala) c.79421A>C (p.Glu26474Ala) c.79046A>C (p.Glu26349Ala) c.106241A>C (p.Glu35414Ala) c.101318A>C (p.Glu33773Ala) n.446+6738T>G n.220-5358T>G c.105338A>C (p.Glu35113Ala) c.79232A>C (p.Glu26411Ala) c.79091A>C (p.Glu26364Ala) c.105134A>C (p.Glu35045Ala) c.100532A>C (p.Glu33511Ala) c.100529A>C (p.Glu33510Ala) c.97571A>C (p.Glu32524Ala) c.79187A>C (p.Glu26396Ala) c.100682A>C (p.Glu33561Ala) c.100679A>C (p.Glu33560Ala) c.100112A>C (p.Glu33371Ala) c.97454A>C (p.Glu32485Ala) c.97373A>C (p.Glu32458Ala) c.79136A>C (p.Glu26379Ala) c.68990A>C (p.Glu22997Ala) | |
2 | g.178530375C>A | CA349406467 | TTN,TTN-AS1 | c.98536G>T (p.Glu32846Ter) c.79621G>T (p.Glu26541Ter) c.79420G>T (p.Glu26474Ter) c.79045G>T (p.Glu26349Ter) c.106240G>T (p.Glu35414Ter) c.101317G>T (p.Glu33773Ter) n.446+6739C>A n.220-5357C>A c.105337G>T (p.Glu35113Ter) c.79231G>T (p.Glu26411Ter) c.79090G>T (p.Glu26364Ter) c.105133G>T (p.Glu35045Ter) c.100531G>T (p.Glu33511Ter) c.100528G>T (p.Glu33510Ter) c.97570G>T (p.Glu32524Ter) c.79186G>T (p.Glu26396Ter) c.100681G>T (p.Glu33561Ter) c.100678G>T (p.Glu33560Ter) c.100111G>T (p.Glu33371Ter) c.97453G>T (p.Glu32485Ter) c.97372G>T (p.Glu32458Ter) c.79135G>T (p.Glu26379Ter) c.68989G>T (p.Glu22997Ter) | |
2 | g.178530375C= | CA1310514563 | TTN,TTN-AS1 | c.98536G= (p.Glu32846=) c.79621G= (p.Glu26541=) c.79420G= (p.Glu26474=) c.79045G= (p.Glu26349=) c.106240G= (p.Glu35414=) c.101317G= (p.Glu33773=) n.446+6739C= n.220-5357C= c.105337G= (p.Glu35113=) c.79231G= (p.Glu26411=) c.79090G= (p.Glu26364=) c.105133G= (p.Glu35045=) c.100531G= (p.Glu33511=) c.100528G= (p.Glu33510=) c.97570G= (p.Glu32524=) c.79186G= (p.Glu26396=) c.100681G= (p.Glu33561=) c.100678G= (p.Glu33560=) c.100111G= (p.Glu33371=) c.97453G= (p.Glu32485=) c.97372G= (p.Glu32458=) c.79135G= (p.Glu26379=) c.68989G= (p.Glu22997=) | |
2 | g.178530375C>G | CA349406469 | TTN,TTN-AS1 | c.98536G>C (p.Glu32846Gln) c.79621G>C (p.Glu26541Gln) c.79420G>C (p.Glu26474Gln) c.79045G>C (p.Glu26349Gln) c.106240G>C (p.Glu35414Gln) c.101317G>C (p.Glu33773Gln) n.446+6739C>G n.220-5357C>G c.105337G>C (p.Glu35113Gln) c.79231G>C (p.Glu26411Gln) c.79090G>C (p.Glu26364Gln) c.105133G>C (p.Glu35045Gln) c.100531G>C (p.Glu33511Gln) c.100528G>C (p.Glu33510Gln) c.97570G>C (p.Glu32524Gln) c.79186G>C (p.Glu26396Gln) c.100681G>C (p.Glu33561Gln) c.100678G>C (p.Glu33560Gln) c.100111G>C (p.Glu33371Gln) c.97453G>C (p.Glu32485Gln) c.97372G>C (p.Glu32458Gln) c.79135G>C (p.Glu26379Gln) c.68989G>C (p.Glu22997Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530375C>T | CA349406465 | TTN,TTN-AS1 | c.98536G>A (p.Glu32846Lys) c.79621G>A (p.Glu26541Lys) c.79420G>A (p.Glu26474Lys) c.79045G>A (p.Glu26349Lys) c.106240G>A (p.Glu35414Lys) c.101317G>A (p.Glu33773Lys) n.446+6739C>T n.220-5357C>T c.105337G>A (p.Glu35113Lys) c.79231G>A (p.Glu26411Lys) c.79090G>A (p.Glu26364Lys) c.105133G>A (p.Glu35045Lys) c.100531G>A (p.Glu33511Lys) c.100528G>A (p.Glu33510Lys) c.97570G>A (p.Glu32524Lys) c.79186G>A (p.Glu26396Lys) c.100681G>A (p.Glu33561Lys) c.100678G>A (p.Glu33560Lys) c.100111G>A (p.Glu33371Lys) c.97453G>A (p.Glu32485Lys) c.97372G>A (p.Glu32458Lys) c.79135G>A (p.Glu26379Lys) c.68989G>A (p.Glu22997Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530376A= | CA1310514566 | TTN,TTN-AS1 | c.98535T= (p.Pro32845=) c.79620T= (p.Pro26540=) c.79419T= (p.Pro26473=) c.79044T= (p.Pro26348=) c.106239T= (p.Pro35413=) c.101316T= (p.Pro33772=) n.446+6740A= n.220-5356A= c.105336T= (p.Pro35112=) c.79230T= (p.Pro26410=) c.79089T= (p.Pro26363=) c.105132T= (p.Pro35044=) c.100530T= (p.Pro33510=) c.100527T= (p.Pro33509=) c.97569T= (p.Pro32523=) c.79185T= (p.Pro26395=) c.100680T= (p.Pro33560=) c.100677T= (p.Pro33559=) c.100110T= (p.Pro33370=) c.97452T= (p.Pro32484=) c.97371T= (p.Pro32457=) c.79134T= (p.Pro26378=) c.68988T= (p.Pro22996=) | |
2 | g.178530376A>C | CA430235246 | TTN,TTN-AS1 | c.98535T>G (p.Pro32845=) c.79620T>G (p.Pro26540=) c.79419T>G (p.Pro26473=) c.79044T>G (p.Pro26348=) c.106239T>G (p.Pro35413=) c.101316T>G (p.Pro33772=) n.446+6740A>C n.220-5356A>C c.105336T>G (p.Pro35112=) c.79230T>G (p.Pro26410=) c.79089T>G (p.Pro26363=) c.105132T>G (p.Pro35044=) c.100530T>G (p.Pro33510=) c.100527T>G (p.Pro33509=) c.97569T>G (p.Pro32523=) c.79185T>G (p.Pro26395=) c.100680T>G (p.Pro33560=) c.100677T>G (p.Pro33559=) c.100110T>G (p.Pro33370=) c.97452T>G (p.Pro32484=) c.97371T>G (p.Pro32457=) c.79134T>G (p.Pro26378=) c.68988T>G (p.Pro22996=) | |
2 | g.178530376A>G | CA430235247 | TTN,TTN-AS1 | c.98535T>C (p.Pro32845=) c.79620T>C (p.Pro26540=) c.79419T>C (p.Pro26473=) c.79044T>C (p.Pro26348=) c.106239T>C (p.Pro35413=) c.101316T>C (p.Pro33772=) n.446+6740A>G n.220-5356A>G c.105336T>C (p.Pro35112=) c.79230T>C (p.Pro26410=) c.79089T>C (p.Pro26363=) c.105132T>C (p.Pro35044=) c.100530T>C (p.Pro33510=) c.100527T>C (p.Pro33509=) c.97569T>C (p.Pro32523=) c.79185T>C (p.Pro26395=) c.100680T>C (p.Pro33560=) c.100677T>C (p.Pro33559=) c.100110T>C (p.Pro33370=) c.97452T>C (p.Pro32484=) c.97371T>C (p.Pro32457=) c.79134T>C (p.Pro26378=) c.68988T>C (p.Pro22996=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530376A>T | CA430235248 | TTN,TTN-AS1 | c.98535T>A (p.Pro32845=) c.79620T>A (p.Pro26540=) c.79419T>A (p.Pro26473=) c.79044T>A (p.Pro26348=) c.106239T>A (p.Pro35413=) c.101316T>A (p.Pro33772=) n.446+6740A>T n.220-5356A>T c.105336T>A (p.Pro35112=) c.79230T>A (p.Pro26410=) c.79089T>A (p.Pro26363=) c.105132T>A (p.Pro35044=) c.100530T>A (p.Pro33510=) c.100527T>A (p.Pro33509=) c.97569T>A (p.Pro32523=) c.79185T>A (p.Pro26395=) c.100680T>A (p.Pro33560=) c.100677T>A (p.Pro33559=) c.100110T>A (p.Pro33370=) c.97452T>A (p.Pro32484=) c.97371T>A (p.Pro32457=) c.79134T>A (p.Pro26378=) c.68988T>A (p.Pro22996=) | |
2 | g.178530377G>A | CA349406472 | TTN,TTN-AS1 | c.98534C>T (p.Pro32845Leu) c.79619C>T (p.Pro26540Leu) c.79418C>T (p.Pro26473Leu) c.79043C>T (p.Pro26348Leu) c.106238C>T (p.Pro35413Leu) c.101315C>T (p.Pro33772Leu) n.446+6741G>A n.220-5355G>A c.105335C>T (p.Pro35112Leu) c.79229C>T (p.Pro26410Leu) c.79088C>T (p.Pro26363Leu) c.105131C>T (p.Pro35044Leu) c.100529C>T (p.Pro33510Leu) c.100526C>T (p.Pro33509Leu) c.97568C>T (p.Pro32523Leu) c.79184C>T (p.Pro26395Leu) c.100679C>T (p.Pro33560Leu) c.100676C>T (p.Pro33559Leu) c.100109C>T (p.Pro33370Leu) c.97451C>T (p.Pro32484Leu) c.97370C>T (p.Pro32457Leu) c.79133C>T (p.Pro26378Leu) c.68987C>T (p.Pro22996Leu) | |
2 | g.178530377G>C | CA349406474 | TTN,TTN-AS1 | c.98534C>G (p.Pro32845Arg) c.79619C>G (p.Pro26540Arg) c.79418C>G (p.Pro26473Arg) c.79043C>G (p.Pro26348Arg) c.106238C>G (p.Pro35413Arg) c.101315C>G (p.Pro33772Arg) n.446+6741G>C n.220-5355G>C c.105335C>G (p.Pro35112Arg) c.79229C>G (p.Pro26410Arg) c.79088C>G (p.Pro26363Arg) c.105131C>G (p.Pro35044Arg) c.100529C>G (p.Pro33510Arg) c.100526C>G (p.Pro33509Arg) c.97568C>G (p.Pro32523Arg) c.79184C>G (p.Pro26395Arg) c.100679C>G (p.Pro33560Arg) c.100676C>G (p.Pro33559Arg) c.100109C>G (p.Pro33370Arg) c.97451C>G (p.Pro32484Arg) c.97370C>G (p.Pro32457Arg) c.79133C>G (p.Pro26378Arg) c.68987C>G (p.Pro22996Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.178530377G= | CA1310514568 | TTN,TTN-AS1 | c.98534C= (p.Pro32845=) c.79619C= (p.Pro26540=) c.79418C= (p.Pro26473=) c.79043C= (p.Pro26348=) c.106238C= (p.Pro35413=) c.101315C= (p.Pro33772=) n.446+6741G= n.220-5355G= c.105335C= (p.Pro35112=) c.79229C= (p.Pro26410=) c.79088C= (p.Pro26363=) c.105131C= (p.Pro35044=) c.100529C= (p.Pro33510=) c.100526C= (p.Pro33509=) c.97568C= (p.Pro32523=) c.79184C= (p.Pro26395=) c.100679C= (p.Pro33560=) c.100676C= (p.Pro33559=) c.100109C= (p.Pro33370=) c.97451C= (p.Pro32484=) c.97370C= (p.Pro32457=) c.79133C= (p.Pro26378=) c.68987C= (p.Pro22996=) | |
2 | g.178530377G>T | CA349406476 | TTN,TTN-AS1 | c.98534C>A (p.Pro32845His) c.79619C>A (p.Pro26540His) c.79418C>A (p.Pro26473His) c.79043C>A (p.Pro26348His) c.106238C>A (p.Pro35413His) c.101315C>A (p.Pro33772His) n.446+6741G>T n.220-5355G>T c.105335C>A (p.Pro35112His) c.79229C>A (p.Pro26410His) c.79088C>A (p.Pro26363His) c.105131C>A (p.Pro35044His) c.100529C>A (p.Pro33510His) c.100526C>A (p.Pro33509His) c.97568C>A (p.Pro32523His) c.79184C>A (p.Pro26395His) c.100679C>A (p.Pro33560His) c.100676C>A (p.Pro33559His) c.100109C>A (p.Pro33370His) c.97451C>A (p.Pro32484His) c.97370C>A (p.Pro32457His) c.79133C>A (p.Pro26378His) c.68987C>A (p.Pro22996His) | |
2 | g.178530378G>A | CA349406478 | TTN,TTN-AS1 | c.98533C>T (p.Pro32845Ser) c.79618C>T (p.Pro26540Ser) c.79417C>T (p.Pro26473Ser) c.79042C>T (p.Pro26348Ser) c.106237C>T (p.Pro35413Ser) c.101314C>T (p.Pro33772Ser) n.446+6742G>A n.220-5354G>A c.105334C>T (p.Pro35112Ser) c.79228C>T (p.Pro26410Ser) c.79087C>T (p.Pro26363Ser) c.105130C>T (p.Pro35044Ser) c.100528C>T (p.Pro33510Ser) c.100525C>T (p.Pro33509Ser) c.97567C>T (p.Pro32523Ser) c.79183C>T (p.Pro26395Ser) c.100678C>T (p.Pro33560Ser) c.100675C>T (p.Pro33559Ser) c.100108C>T (p.Pro33370Ser) c.97450C>T (p.Pro32484Ser) c.97369C>T (p.Pro32457Ser) c.79132C>T (p.Pro26378Ser) c.68986C>T (p.Pro22996Ser) | |
2 | g.178530378G>C | CA349406481 | TTN,TTN-AS1 | c.98533C>G (p.Pro32845Ala) c.79618C>G (p.Pro26540Ala) c.79417C>G (p.Pro26473Ala) c.79042C>G (p.Pro26348Ala) c.106237C>G (p.Pro35413Ala) c.101314C>G (p.Pro33772Ala) n.446+6742G>C n.220-5354G>C c.105334C>G (p.Pro35112Ala) c.79228C>G (p.Pro26410Ala) c.79087C>G (p.Pro26363Ala) c.105130C>G (p.Pro35044Ala) c.100528C>G (p.Pro33510Ala) c.100525C>G (p.Pro33509Ala) c.97567C>G (p.Pro32523Ala) c.79183C>G (p.Pro26395Ala) c.100678C>G (p.Pro33560Ala) c.100675C>G (p.Pro33559Ala) c.100108C>G (p.Pro33370Ala) c.97450C>G (p.Pro32484Ala) c.97369C>G (p.Pro32457Ala) c.79132C>G (p.Pro26378Ala) c.68986C>G (p.Pro22996Ala) | |
2 | g.178530378G>T | CA349406483 | TTN,TTN-AS1 | c.98533C>A (p.Pro32845Thr) c.79618C>A (p.Pro26540Thr) c.79417C>A (p.Pro26473Thr) c.79042C>A (p.Pro26348Thr) c.106237C>A (p.Pro35413Thr) c.101314C>A (p.Pro33772Thr) n.446+6742G>T n.220-5354G>T c.105334C>A (p.Pro35112Thr) c.79228C>A (p.Pro26410Thr) c.79087C>A (p.Pro26363Thr) c.105130C>A (p.Pro35044Thr) c.100528C>A (p.Pro33510Thr) c.100525C>A (p.Pro33509Thr) c.97567C>A (p.Pro32523Thr) c.79183C>A (p.Pro26395Thr) c.100678C>A (p.Pro33560Thr) c.100675C>A (p.Pro33559Thr) c.100108C>A (p.Pro33370Thr) c.97450C>A (p.Pro32484Thr) c.97369C>A (p.Pro32457Thr) c.79132C>A (p.Pro26378Thr) c.68986C>A (p.Pro22996Thr) | |
2 | g.178530379A>C | CA430235252 | TTN,TTN-AS1 | c.98532T>G (p.Ala32844=) c.79617T>G (p.Ala26539=) c.79416T>G (p.Ala26472=) c.79041T>G (p.Ala26347=) c.106236T>G (p.Ala35412=) c.101313T>G (p.Ala33771=) n.446+6743A>C n.220-5353A>C c.105333T>G (p.Ala35111=) c.79227T>G (p.Ala26409=) c.79086T>G (p.Ala26362=) c.105129T>G (p.Ala35043=) c.100527T>G (p.Ala33509=) c.100524T>G (p.Ala33508=) c.97566T>G (p.Ala32522=) c.79182T>G (p.Ala26394=) c.100677T>G (p.Ala33559=) c.100674T>G (p.Ala33558=) c.100107T>G (p.Ala33369=) c.97449T>G (p.Ala32483=) c.97368T>G (p.Ala32456=) c.79131T>G (p.Ala26377=) c.68985T>G (p.Ala22995=) | |
2 | g.178530379A>G | CA430235253 | TTN,TTN-AS1 | c.98532T>C (p.Ala32844=) c.79617T>C (p.Ala26539=) c.79416T>C (p.Ala26472=) c.79041T>C (p.Ala26347=) c.106236T>C (p.Ala35412=) c.101313T>C (p.Ala33771=) n.446+6743A>G n.220-5353A>G c.105333T>C (p.Ala35111=) c.79227T>C (p.Ala26409=) c.79086T>C (p.Ala26362=) c.105129T>C (p.Ala35043=) c.100527T>C (p.Ala33509=) c.100524T>C (p.Ala33508=) c.97566T>C (p.Ala32522=) c.79182T>C (p.Ala26394=) c.100677T>C (p.Ala33559=) c.100674T>C (p.Ala33558=) c.100107T>C (p.Ala33369=) c.97449T>C (p.Ala32483=) c.97368T>C (p.Ala32456=) c.79131T>C (p.Ala26377=) c.68985T>C (p.Ala22995=) | |
2 | g.178530379A>T | CA430235254 | TTN,TTN-AS1 | c.98532T>A (p.Ala32844=) c.79617T>A (p.Ala26539=) c.79416T>A (p.Ala26472=) c.79041T>A (p.Ala26347=) c.106236T>A (p.Ala35412=) c.101313T>A (p.Ala33771=) n.446+6743A>T n.220-5353A>T c.105333T>A (p.Ala35111=) c.79227T>A (p.Ala26409=) c.79086T>A (p.Ala26362=) c.105129T>A (p.Ala35043=) c.100527T>A (p.Ala33509=) c.100524T>A (p.Ala33508=) c.97566T>A (p.Ala32522=) c.79182T>A (p.Ala26394=) c.100677T>A (p.Ala33559=) c.100674T>A (p.Ala33558=) c.100107T>A (p.Ala33369=) c.97449T>A (p.Ala32483=) c.97368T>A (p.Ala32456=) c.79131T>A (p.Ala26377=) c.68985T>A (p.Ala22995=) | |
2 | g.178530380G>A | CA349406489 | TTN,TTN-AS1 | c.98531C>T (p.Ala32844Val) c.79616C>T (p.Ala26539Val) c.79415C>T (p.Ala26472Val) c.79040C>T (p.Ala26347Val) c.106235C>T (p.Ala35412Val) c.101312C>T (p.Ala33771Val) n.446+6744G>A n.220-5352G>A c.105332C>T (p.Ala35111Val) c.79226C>T (p.Ala26409Val) c.79085C>T (p.Ala26362Val) c.105128C>T (p.Ala35043Val) c.100526C>T (p.Ala33509Val) c.100523C>T (p.Ala33508Val) c.97565C>T (p.Ala32522Val) c.79181C>T (p.Ala26394Val) c.100676C>T (p.Ala33559Val) c.100673C>T (p.Ala33558Val) c.100106C>T (p.Ala33369Val) c.97448C>T (p.Ala32483Val) c.97367C>T (p.Ala32456Val) c.79130C>T (p.Ala26377Val) c.68984C>T (p.Ala22995Val) | |
2 | g.178530380G>C | CA349406485 | TTN,TTN-AS1 | c.98531C>G (p.Ala32844Gly) c.79616C>G (p.Ala26539Gly) c.79415C>G (p.Ala26472Gly) c.79040C>G (p.Ala26347Gly) c.106235C>G (p.Ala35412Gly) c.101312C>G (p.Ala33771Gly) n.446+6744G>C n.220-5352G>C c.105332C>G (p.Ala35111Gly) c.79226C>G (p.Ala26409Gly) c.79085C>G (p.Ala26362Gly) c.105128C>G (p.Ala35043Gly) c.100526C>G (p.Ala33509Gly) c.100523C>G (p.Ala33508Gly) c.97565C>G (p.Ala32522Gly) c.79181C>G (p.Ala26394Gly) c.100676C>G (p.Ala33559Gly) c.100673C>G (p.Ala33558Gly) c.100106C>G (p.Ala33369Gly) c.97448C>G (p.Ala32483Gly) c.97367C>G (p.Ala32456Gly) c.79130C>G (p.Ala26377Gly) c.68984C>G (p.Ala22995Gly) | |
2 | g.178530380G>T | CA349406487 | TTN,TTN-AS1 | c.98531C>A (p.Ala32844Asp) c.79616C>A (p.Ala26539Asp) c.79415C>A (p.Ala26472Asp) c.79040C>A (p.Ala26347Asp) c.106235C>A (p.Ala35412Asp) c.101312C>A (p.Ala33771Asp) n.446+6744G>T n.220-5352G>T c.105332C>A (p.Ala35111Asp) c.79226C>A (p.Ala26409Asp) c.79085C>A (p.Ala26362Asp) c.105128C>A (p.Ala35043Asp) c.100526C>A (p.Ala33509Asp) c.100523C>A (p.Ala33508Asp) c.97565C>A (p.Ala32522Asp) c.79181C>A (p.Ala26394Asp) c.100676C>A (p.Ala33559Asp) c.100673C>A (p.Ala33558Asp) c.100106C>A (p.Ala33369Asp) c.97448C>A (p.Ala32483Asp) c.97367C>A (p.Ala32456Asp) c.79130C>A (p.Ala26377Asp) c.68984C>A (p.Ala22995Asp) | |
2 | g.178530381C>A | CA349406491 | TTN,TTN-AS1 | c.98530G>T (p.Ala32844Ser) c.79615G>T (p.Ala26539Ser) c.79414G>T (p.Ala26472Ser) c.79039G>T (p.Ala26347Ser) c.106234G>T (p.Ala35412Ser) c.101311G>T (p.Ala33771Ser) n.446+6745C>A n.220-5351C>A c.105331G>T (p.Ala35111Ser) c.79225G>T (p.Ala26409Ser) c.79084G>T (p.Ala26362Ser) c.105127G>T (p.Ala35043Ser) c.100525G>T (p.Ala33509Ser) c.100522G>T (p.Ala33508Ser) c.97564G>T (p.Ala32522Ser) c.79180G>T (p.Ala26394Ser) c.100675G>T (p.Ala33559Ser) c.100672G>T (p.Ala33558Ser) c.100105G>T (p.Ala33369Ser) c.97447G>T (p.Ala32483Ser) c.97366G>T (p.Ala32456Ser) c.79129G>T (p.Ala26377Ser) c.68983G>T (p.Ala22995Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530381C= | CA1310514570 | TTN,TTN-AS1 | c.98530G= (p.Ala32844=) c.79615G= (p.Ala26539=) c.79414G= (p.Ala26472=) c.79039G= (p.Ala26347=) c.106234G= (p.Ala35412=) c.101311G= (p.Ala33771=) n.446+6745C= n.220-5351C= c.105331G= (p.Ala35111=) c.79225G= (p.Ala26409=) c.79084G= (p.Ala26362=) c.105127G= (p.Ala35043=) c.100525G= (p.Ala33509=) c.100522G= (p.Ala33508=) c.97564G= (p.Ala32522=) c.79180G= (p.Ala26394=) c.100675G= (p.Ala33559=) c.100672G= (p.Ala33558=) c.100105G= (p.Ala33369=) c.97447G= (p.Ala32483=) c.97366G= (p.Ala32456=) c.79129G= (p.Ala26377=) c.68983G= (p.Ala22995=) | |
2 | g.178530381C>G | CA1985142 | TTN,TTN-AS1 | c.98530G>C (p.Ala32844Pro) c.79615G>C (p.Ala26539Pro) c.79414G>C (p.Ala26472Pro) c.79039G>C (p.Ala26347Pro) c.106234G>C (p.Ala35412Pro) c.101311G>C (p.Ala33771Pro) n.446+6745C>G n.220-5351C>G c.105331G>C (p.Ala35111Pro) c.79225G>C (p.Ala26409Pro) c.79084G>C (p.Ala26362Pro) c.105127G>C (p.Ala35043Pro) c.100525G>C (p.Ala33509Pro) c.100522G>C (p.Ala33508Pro) c.97564G>C (p.Ala32522Pro) c.79180G>C (p.Ala26394Pro) c.100675G>C (p.Ala33559Pro) c.100672G>C (p.Ala33558Pro) c.100105G>C (p.Ala33369Pro) c.97447G>C (p.Ala32483Pro) c.97366G>C (p.Ala32456Pro) c.79129G>C (p.Ala26377Pro) c.68983G>C (p.Ala22995Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530381C>T | CA349406494 | TTN,TTN-AS1 | c.98530G>A (p.Ala32844Thr) c.79615G>A (p.Ala26539Thr) c.79414G>A (p.Ala26472Thr) c.79039G>A (p.Ala26347Thr) c.106234G>A (p.Ala35412Thr) c.101311G>A (p.Ala33771Thr) n.446+6745C>T n.220-5351C>T c.105331G>A (p.Ala35111Thr) c.79225G>A (p.Ala26409Thr) c.79084G>A (p.Ala26362Thr) c.105127G>A (p.Ala35043Thr) c.100525G>A (p.Ala33509Thr) c.100522G>A (p.Ala33508Thr) c.97564G>A (p.Ala32522Thr) c.79180G>A (p.Ala26394Thr) c.100675G>A (p.Ala33559Thr) c.100672G>A (p.Ala33558Thr) c.100105G>A (p.Ala33369Thr) c.97447G>A (p.Ala32483Thr) c.97366G>A (p.Ala32456Thr) c.79129G>A (p.Ala26377Thr) c.68983G>A (p.Ala22995Thr) | |
2 | g.178530382T>A | CA349406495 | TTN,TTN-AS1 | c.98529A>T (p.Lys32843Asn) c.79614A>T (p.Lys26538Asn) c.79413A>T (p.Lys26471Asn) c.79038A>T (p.Lys26346Asn) c.106233A>T (p.Lys35411Asn) c.101310A>T (p.Lys33770Asn) n.446+6746T>A n.220-5350T>A c.105330A>T (p.Lys35110Asn) c.79224A>T (p.Lys26408Asn) c.79083A>T (p.Lys26361Asn) c.105126A>T (p.Lys35042Asn) c.100524A>T (p.Lys33508Asn) c.100521A>T (p.Lys33507Asn) c.97563A>T (p.Lys32521Asn) c.79179A>T (p.Lys26393Asn) c.100674A>T (p.Lys33558Asn) c.100671A>T (p.Lys33557Asn) c.100104A>T (p.Lys33368Asn) c.97446A>T (p.Lys32482Asn) c.97365A>T (p.Lys32455Asn) c.79128A>T (p.Lys26376Asn) c.68982A>T (p.Lys22994Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530382T>C | CA430235257 | TTN,TTN-AS1 | c.98529A>G (p.Lys32843=) c.79614A>G (p.Lys26538=) c.79413A>G (p.Lys26471=) c.79038A>G (p.Lys26346=) c.106233A>G (p.Lys35411=) c.101310A>G (p.Lys33770=) n.446+6746T>C n.220-5350T>C c.105330A>G (p.Lys35110=) c.79224A>G (p.Lys26408=) c.79083A>G (p.Lys26361=) c.105126A>G (p.Lys35042=) c.100524A>G (p.Lys33508=) c.100521A>G (p.Lys33507=) c.97563A>G (p.Lys32521=) c.79179A>G (p.Lys26393=) c.100674A>G (p.Lys33558=) c.100671A>G (p.Lys33557=) c.100104A>G (p.Lys33368=) c.97446A>G (p.Lys32482=) c.97365A>G (p.Lys32455=) c.79128A>G (p.Lys26376=) c.68982A>G (p.Lys22994=) | ClinVar dbSNP |
2 | g.178530382T>G | CA349406497 | TTN,TTN-AS1 | c.98529A>C (p.Lys32843Asn) c.79614A>C (p.Lys26538Asn) c.79413A>C (p.Lys26471Asn) c.79038A>C (p.Lys26346Asn) c.106233A>C (p.Lys35411Asn) c.101310A>C (p.Lys33770Asn) n.446+6746T>G n.220-5350T>G c.105330A>C (p.Lys35110Asn) c.79224A>C (p.Lys26408Asn) c.79083A>C (p.Lys26361Asn) c.105126A>C (p.Lys35042Asn) c.100524A>C (p.Lys33508Asn) c.100521A>C (p.Lys33507Asn) c.97563A>C (p.Lys32521Asn) c.79179A>C (p.Lys26393Asn) c.100674A>C (p.Lys33558Asn) c.100671A>C (p.Lys33557Asn) c.100104A>C (p.Lys33368Asn) c.97446A>C (p.Lys32482Asn) c.97365A>C (p.Lys32455Asn) c.79128A>C (p.Lys26376Asn) c.68982A>C (p.Lys22994Asn) | |
2 | g.178530382T= | CA1310514572 | TTN,TTN-AS1 | c.98529A= (p.Lys32843=) c.79614A= (p.Lys26538=) c.79413A= (p.Lys26471=) c.79038A= (p.Lys26346=) c.106233A= (p.Lys35411=) c.101310A= (p.Lys33770=) n.446+6746T= n.220-5350T= c.105330A= (p.Lys35110=) c.79224A= (p.Lys26408=) c.79083A= (p.Lys26361=) c.105126A= (p.Lys35042=) c.100524A= (p.Lys33508=) c.100521A= (p.Lys33507=) c.97563A= (p.Lys32521=) c.79179A= (p.Lys26393=) c.100674A= (p.Lys33558=) c.100671A= (p.Lys33557=) c.100104A= (p.Lys33368=) c.97446A= (p.Lys32482=) c.97365A= (p.Lys32455=) c.79128A= (p.Lys26376=) c.68982A= (p.Lys22994=) | |
2 | g.178530385del | CA2586970735 | TTN,TTN-AS1 | c.98529del (p.Ala32844LeufsTer10) c.79614del (p.Ala26539LeufsTer10) c.79413del (p.Ala26472LeufsTer10) c.79038del (p.Ala26347LeufsTer10) c.106233del (p.Ala35412LeufsTer10) c.101310del (p.Ala33771LeufsTer10) n.446+6749del n.220-5347del c.105330del (p.Ala35111LeufsTer10) c.79224del (p.Ala26409LeufsTer10) c.79083del (p.Ala26362LeufsTer10) c.105126del (p.Ala35043LeufsTer10) c.100524del (p.Ala33509LeufsTer10) c.100521del (p.Ala33508LeufsTer10) c.97563del (p.Ala32522LeufsTer10) c.79179del (p.Ala26394LeufsTer10) c.100674del (p.Ala33559LeufsTer10) c.100671del (p.Ala33558LeufsTer10) c.100104del (p.Ala33369LeufsTer10) c.97446del (p.Ala32483LeufsTer10) c.97365del (p.Ala32456LeufsTer10) c.79128del (p.Ala26377LeufsTer10) c.68982del (p.Ala22995LeufsTer10) | gnomAD v4 |
2 | g.178530383T>A | CA349406499 | TTN,TTN-AS1 | c.98528A>T (p.Lys32843Ile) c.79613A>T (p.Lys26538Ile) c.79412A>T (p.Lys26471Ile) c.79037A>T (p.Lys26346Ile) c.106232A>T (p.Lys35411Ile) c.101309A>T (p.Lys33770Ile) n.446+6747T>A n.220-5349T>A c.105329A>T (p.Lys35110Ile) c.79223A>T (p.Lys26408Ile) c.79082A>T (p.Lys26361Ile) c.105125A>T (p.Lys35042Ile) c.100523A>T (p.Lys33508Ile) c.100520A>T (p.Lys33507Ile) c.97562A>T (p.Lys32521Ile) c.79178A>T (p.Lys26393Ile) c.100673A>T (p.Lys33558Ile) c.100670A>T (p.Lys33557Ile) c.100103A>T (p.Lys33368Ile) c.97445A>T (p.Lys32482Ile) c.97364A>T (p.Lys32455Ile) c.79127A>T (p.Lys26376Ile) c.68981A>T (p.Lys22994Ile) | |
2 | g.178530383T>C | CA349406503 | TTN,TTN-AS1 | c.98528A>G (p.Lys32843Arg) c.79613A>G (p.Lys26538Arg) c.79412A>G (p.Lys26471Arg) c.79037A>G (p.Lys26346Arg) c.106232A>G (p.Lys35411Arg) c.101309A>G (p.Lys33770Arg) n.446+6747T>C n.220-5349T>C c.105329A>G (p.Lys35110Arg) c.79223A>G (p.Lys26408Arg) c.79082A>G (p.Lys26361Arg) c.105125A>G (p.Lys35042Arg) c.100523A>G (p.Lys33508Arg) c.100520A>G (p.Lys33507Arg) c.97562A>G (p.Lys32521Arg) c.79178A>G (p.Lys26393Arg) c.100673A>G (p.Lys33558Arg) c.100670A>G (p.Lys33557Arg) c.100103A>G (p.Lys33368Arg) c.97445A>G (p.Lys32482Arg) c.97364A>G (p.Lys32455Arg) c.79127A>G (p.Lys26376Arg) c.68981A>G (p.Lys22994Arg) | |
2 | g.178530383T>G | CA349406501 | TTN,TTN-AS1 | c.98528A>C (p.Lys32843Thr) c.79613A>C (p.Lys26538Thr) c.79412A>C (p.Lys26471Thr) c.79037A>C (p.Lys26346Thr) c.106232A>C (p.Lys35411Thr) c.101309A>C (p.Lys33770Thr) n.446+6747T>G n.220-5349T>G c.105329A>C (p.Lys35110Thr) c.79223A>C (p.Lys26408Thr) c.79082A>C (p.Lys26361Thr) c.105125A>C (p.Lys35042Thr) c.100523A>C (p.Lys33508Thr) c.100520A>C (p.Lys33507Thr) c.97562A>C (p.Lys32521Thr) c.79178A>C (p.Lys26393Thr) c.100673A>C (p.Lys33558Thr) c.100670A>C (p.Lys33557Thr) c.100103A>C (p.Lys33368Thr) c.97445A>C (p.Lys32482Thr) c.97364A>C (p.Lys32455Thr) c.79127A>C (p.Lys26376Thr) c.68981A>C (p.Lys22994Thr) | |
2 | g.178530384T>A | CA349406506 | TTN,TTN-AS1 | c.98527A>T (p.Lys32843Ter) c.79612A>T (p.Lys26538Ter) c.79411A>T (p.Lys26471Ter) c.79036A>T (p.Lys26346Ter) c.106231A>T (p.Lys35411Ter) c.101308A>T (p.Lys33770Ter) n.446+6748T>A n.220-5348T>A c.105328A>T (p.Lys35110Ter) c.79222A>T (p.Lys26408Ter) c.79081A>T (p.Lys26361Ter) c.105124A>T (p.Lys35042Ter) c.100522A>T (p.Lys33508Ter) c.100519A>T (p.Lys33507Ter) c.97561A>T (p.Lys32521Ter) c.79177A>T (p.Lys26393Ter) c.100672A>T (p.Lys33558Ter) c.100669A>T (p.Lys33557Ter) c.100102A>T (p.Lys33368Ter) c.97444A>T (p.Lys32482Ter) c.97363A>T (p.Lys32455Ter) c.79126A>T (p.Lys26376Ter) c.68980A>T (p.Lys22994Ter) | |
2 | g.178530384T>C | CA349406508 | TTN,TTN-AS1 | c.98527A>G (p.Lys32843Glu) c.79612A>G (p.Lys26538Glu) c.79411A>G (p.Lys26471Glu) c.79036A>G (p.Lys26346Glu) c.106231A>G (p.Lys35411Glu) c.101308A>G (p.Lys33770Glu) n.446+6748T>C n.220-5348T>C c.105328A>G (p.Lys35110Glu) c.79222A>G (p.Lys26408Glu) c.79081A>G (p.Lys26361Glu) c.105124A>G (p.Lys35042Glu) c.100522A>G (p.Lys33508Glu) c.100519A>G (p.Lys33507Glu) c.97561A>G (p.Lys32521Glu) c.79177A>G (p.Lys26393Glu) c.100672A>G (p.Lys33558Glu) c.100669A>G (p.Lys33557Glu) c.100102A>G (p.Lys33368Glu) c.97444A>G (p.Lys32482Glu) c.97363A>G (p.Lys32455Glu) c.79126A>G (p.Lys26376Glu) c.68980A>G (p.Lys22994Glu) | |
2 | g.178530384T>G | CA349406511 | TTN,TTN-AS1 | c.98527A>C (p.Lys32843Gln) c.79612A>C (p.Lys26538Gln) c.79411A>C (p.Lys26471Gln) c.79036A>C (p.Lys26346Gln) c.106231A>C (p.Lys35411Gln) c.101308A>C (p.Lys33770Gln) n.446+6748T>G n.220-5348T>G c.105328A>C (p.Lys35110Gln) c.79222A>C (p.Lys26408Gln) c.79081A>C (p.Lys26361Gln) c.105124A>C (p.Lys35042Gln) c.100522A>C (p.Lys33508Gln) c.100519A>C (p.Lys33507Gln) c.97561A>C (p.Lys32521Gln) c.79177A>C (p.Lys26393Gln) c.100672A>C (p.Lys33558Gln) c.100669A>C (p.Lys33557Gln) c.100102A>C (p.Lys33368Gln) c.97444A>C (p.Lys32482Gln) c.97363A>C (p.Lys32455Gln) c.79126A>C (p.Lys26376Gln) c.68980A>C (p.Lys22994Gln) | |
2 | g.178530385T>A | CA430235259 | TTN,TTN-AS1 | c.98526A>T (p.Pro32842=) c.79611A>T (p.Pro26537=) c.79410A>T (p.Pro26470=) c.79035A>T (p.Pro26345=) c.106230A>T (p.Pro35410=) c.101307A>T (p.Pro33769=) n.446+6749T>A n.220-5347T>A c.105327A>T (p.Pro35109=) c.79221A>T (p.Pro26407=) c.79080A>T (p.Pro26360=) c.105123A>T (p.Pro35041=) c.100521A>T (p.Pro33507=) c.100518A>T (p.Pro33506=) c.97560A>T (p.Pro32520=) c.79176A>T (p.Pro26392=) c.100671A>T (p.Pro33557=) c.100668A>T (p.Pro33556=) c.100101A>T (p.Pro33367=) c.97443A>T (p.Pro32481=) c.97362A>T (p.Pro32454=) c.79125A>T (p.Pro26375=) c.68979A>T (p.Pro22993=) | |
2 | g.178530385T>C | CA430235260 | TTN,TTN-AS1 | c.98526A>G (p.Pro32842=) c.79611A>G (p.Pro26537=) c.79410A>G (p.Pro26470=) c.79035A>G (p.Pro26345=) c.106230A>G (p.Pro35410=) c.101307A>G (p.Pro33769=) n.446+6749T>C n.220-5347T>C c.105327A>G (p.Pro35109=) c.79221A>G (p.Pro26407=) c.79080A>G (p.Pro26360=) c.105123A>G (p.Pro35041=) c.100521A>G (p.Pro33507=) c.100518A>G (p.Pro33506=) c.97560A>G (p.Pro32520=) c.79176A>G (p.Pro26392=) c.100671A>G (p.Pro33557=) c.100668A>G (p.Pro33556=) c.100101A>G (p.Pro33367=) c.97443A>G (p.Pro32481=) c.97362A>G (p.Pro32454=) c.79125A>G (p.Pro26375=) c.68979A>G (p.Pro22993=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530385T>G | CA430235261 | TTN,TTN-AS1 | c.98526A>C (p.Pro32842=) c.79611A>C (p.Pro26537=) c.79410A>C (p.Pro26470=) c.79035A>C (p.Pro26345=) c.106230A>C (p.Pro35410=) c.101307A>C (p.Pro33769=) n.446+6749T>G n.220-5347T>G c.105327A>C (p.Pro35109=) c.79221A>C (p.Pro26407=) c.79080A>C (p.Pro26360=) c.105123A>C (p.Pro35041=) c.100521A>C (p.Pro33507=) c.100518A>C (p.Pro33506=) c.97560A>C (p.Pro32520=) c.79176A>C (p.Pro26392=) c.100671A>C (p.Pro33557=) c.100668A>C (p.Pro33556=) c.100101A>C (p.Pro33367=) c.97443A>C (p.Pro32481=) c.97362A>C (p.Pro32454=) c.79125A>C (p.Pro26375=) c.68979A>C (p.Pro22993=) | ClinVar |
2 | g.178530385T= | CA1310514573 | TTN,TTN-AS1 | c.98526A= (p.Pro32842=) c.79611A= (p.Pro26537=) c.79410A= (p.Pro26470=) c.79035A= (p.Pro26345=) c.106230A= (p.Pro35410=) c.101307A= (p.Pro33769=) n.446+6749T= n.220-5347T= c.105327A= (p.Pro35109=) c.79221A= (p.Pro26407=) c.79080A= (p.Pro26360=) c.105123A= (p.Pro35041=) c.100521A= (p.Pro33507=) c.100518A= (p.Pro33506=) c.97560A= (p.Pro32520=) c.79176A= (p.Pro26392=) c.100671A= (p.Pro33557=) c.100668A= (p.Pro33556=) c.100101A= (p.Pro33367=) c.97443A= (p.Pro32481=) c.97362A= (p.Pro32454=) c.79125A= (p.Pro26375=) c.68979A= (p.Pro22993=) | |
2 | g.178530386G>A | CA349406513 | TTN,TTN-AS1 | c.98525C>T (p.Pro32842Leu) c.79610C>T (p.Pro26537Leu) c.79409C>T (p.Pro26470Leu) c.79034C>T (p.Pro26345Leu) c.106229C>T (p.Pro35410Leu) c.101306C>T (p.Pro33769Leu) n.446+6750G>A n.220-5346G>A c.105326C>T (p.Pro35109Leu) c.79220C>T (p.Pro26407Leu) c.79079C>T (p.Pro26360Leu) c.105122C>T (p.Pro35041Leu) c.100520C>T (p.Pro33507Leu) c.100517C>T (p.Pro33506Leu) c.97559C>T (p.Pro32520Leu) c.79175C>T (p.Pro26392Leu) c.100670C>T (p.Pro33557Leu) c.100667C>T (p.Pro33556Leu) c.100100C>T (p.Pro33367Leu) c.97442C>T (p.Pro32481Leu) c.97361C>T (p.Pro32454Leu) c.79124C>T (p.Pro26375Leu) c.68978C>T (p.Pro22993Leu) | |
2 | g.178530386G>C | CA349406515 | TTN,TTN-AS1 | c.98525C>G (p.Pro32842Arg) c.79610C>G (p.Pro26537Arg) c.79409C>G (p.Pro26470Arg) c.79034C>G (p.Pro26345Arg) c.106229C>G (p.Pro35410Arg) c.101306C>G (p.Pro33769Arg) n.446+6750G>C n.220-5346G>C c.105326C>G (p.Pro35109Arg) c.79220C>G (p.Pro26407Arg) c.79079C>G (p.Pro26360Arg) c.105122C>G (p.Pro35041Arg) c.100520C>G (p.Pro33507Arg) c.100517C>G (p.Pro33506Arg) c.97559C>G (p.Pro32520Arg) c.79175C>G (p.Pro26392Arg) c.100670C>G (p.Pro33557Arg) c.100667C>G (p.Pro33556Arg) c.100100C>G (p.Pro33367Arg) c.97442C>G (p.Pro32481Arg) c.97361C>G (p.Pro32454Arg) c.79124C>G (p.Pro26375Arg) c.68978C>G (p.Pro22993Arg) | ClinVar dbSNP |
2 | g.178530386G= | CA1310514575 | TTN,TTN-AS1 | c.98525C= (p.Pro32842=) c.79610C= (p.Pro26537=) c.79409C= (p.Pro26470=) c.79034C= (p.Pro26345=) c.106229C= (p.Pro35410=) c.101306C= (p.Pro33769=) n.446+6750G= n.220-5346G= c.105326C= (p.Pro35109=) c.79220C= (p.Pro26407=) c.79079C= (p.Pro26360=) c.105122C= (p.Pro35041=) c.100520C= (p.Pro33507=) c.100517C= (p.Pro33506=) c.97559C= (p.Pro32520=) c.79175C= (p.Pro26392=) c.100670C= (p.Pro33557=) c.100667C= (p.Pro33556=) c.100100C= (p.Pro33367=) c.97442C= (p.Pro32481=) c.97361C= (p.Pro32454=) c.79124C= (p.Pro26375=) c.68978C= (p.Pro22993=) | |
2 | g.178530386G>T | CA349406517 | TTN,TTN-AS1 | c.98525C>A (p.Pro32842Gln) c.79610C>A (p.Pro26537Gln) c.79409C>A (p.Pro26470Gln) c.79034C>A (p.Pro26345Gln) c.106229C>A (p.Pro35410Gln) c.101306C>A (p.Pro33769Gln) n.446+6750G>T n.220-5346G>T c.105326C>A (p.Pro35109Gln) c.79220C>A (p.Pro26407Gln) c.79079C>A (p.Pro26360Gln) c.105122C>A (p.Pro35041Gln) c.100520C>A (p.Pro33507Gln) c.100517C>A (p.Pro33506Gln) c.97559C>A (p.Pro32520Gln) c.79175C>A (p.Pro26392Gln) c.100670C>A (p.Pro33557Gln) c.100667C>A (p.Pro33556Gln) c.100100C>A (p.Pro33367Gln) c.97442C>A (p.Pro32481Gln) c.97361C>A (p.Pro32454Gln) c.79124C>A (p.Pro26375Gln) c.68978C>A (p.Pro22993Gln) | |
2 | g.178530387G>A | CA349406519 | TTN,TTN-AS1 | c.98524C>T (p.Pro32842Ser) c.79609C>T (p.Pro26537Ser) c.79408C>T (p.Pro26470Ser) c.79033C>T (p.Pro26345Ser) c.106228C>T (p.Pro35410Ser) c.101305C>T (p.Pro33769Ser) n.446+6751G>A n.220-5345G>A c.105325C>T (p.Pro35109Ser) c.79219C>T (p.Pro26407Ser) c.79078C>T (p.Pro26360Ser) c.105121C>T (p.Pro35041Ser) c.100519C>T (p.Pro33507Ser) c.100516C>T (p.Pro33506Ser) c.97558C>T (p.Pro32520Ser) c.79174C>T (p.Pro26392Ser) c.100669C>T (p.Pro33557Ser) c.100666C>T (p.Pro33556Ser) c.100099C>T (p.Pro33367Ser) c.97441C>T (p.Pro32481Ser) c.97360C>T (p.Pro32454Ser) c.79123C>T (p.Pro26375Ser) c.68977C>T (p.Pro22993Ser) | gnomAD v4 |
2 | g.178530387G>C | CA349406520 | TTN,TTN-AS1 | c.98524C>G (p.Pro32842Ala) c.79609C>G (p.Pro26537Ala) c.79408C>G (p.Pro26470Ala) c.79033C>G (p.Pro26345Ala) c.106228C>G (p.Pro35410Ala) c.101305C>G (p.Pro33769Ala) n.446+6751G>C n.220-5345G>C c.105325C>G (p.Pro35109Ala) c.79219C>G (p.Pro26407Ala) c.79078C>G (p.Pro26360Ala) c.105121C>G (p.Pro35041Ala) c.100519C>G (p.Pro33507Ala) c.100516C>G (p.Pro33506Ala) c.97558C>G (p.Pro32520Ala) c.79174C>G (p.Pro26392Ala) c.100669C>G (p.Pro33557Ala) c.100666C>G (p.Pro33556Ala) c.100099C>G (p.Pro33367Ala) c.97441C>G (p.Pro32481Ala) c.97360C>G (p.Pro32454Ala) c.79123C>G (p.Pro26375Ala) c.68977C>G (p.Pro22993Ala) | |
2 | g.178530387G>T | CA349406522 | TTN,TTN-AS1 | c.98524C>A (p.Pro32842Thr) c.79609C>A (p.Pro26537Thr) c.79408C>A (p.Pro26470Thr) c.79033C>A (p.Pro26345Thr) c.106228C>A (p.Pro35410Thr) c.101305C>A (p.Pro33769Thr) n.446+6751G>T n.220-5345G>T c.105325C>A (p.Pro35109Thr) c.79219C>A (p.Pro26407Thr) c.79078C>A (p.Pro26360Thr) c.105121C>A (p.Pro35041Thr) c.100519C>A (p.Pro33507Thr) c.100516C>A (p.Pro33506Thr) c.97558C>A (p.Pro32520Thr) c.79174C>A (p.Pro26392Thr) c.100669C>A (p.Pro33557Thr) c.100666C>A (p.Pro33556Thr) c.100099C>A (p.Pro33367Thr) c.97441C>A (p.Pro32481Thr) c.97360C>A (p.Pro32454Thr) c.79123C>A (p.Pro26375Thr) c.68977C>A (p.Pro22993Thr) | |
2 | g.178530388T>A | CA349406524 | TTN,TTN-AS1 | c.98523A>T (p.Glu32841Asp) c.79608A>T (p.Glu26536Asp) c.79407A>T (p.Glu26469Asp) c.79032A>T (p.Glu26344Asp) c.106227A>T (p.Glu35409Asp) c.101304A>T (p.Glu33768Asp) n.446+6752T>A n.220-5344T>A c.105324A>T (p.Glu35108Asp) c.79218A>T (p.Glu26406Asp) c.79077A>T (p.Glu26359Asp) c.105120A>T (p.Glu35040Asp) c.100518A>T (p.Glu33506Asp) c.100515A>T (p.Glu33505Asp) c.97557A>T (p.Glu32519Asp) c.79173A>T (p.Glu26391Asp) c.100668A>T (p.Glu33556Asp) c.100665A>T (p.Glu33555Asp) c.100098A>T (p.Glu33366Asp) c.97440A>T (p.Glu32480Asp) c.97359A>T (p.Glu32453Asp) c.79122A>T (p.Glu26374Asp) c.68976A>T (p.Glu22992Asp) | |
2 | g.178530388T>C | CA430235263 | TTN,TTN-AS1 | c.98523A>G (p.Glu32841=) c.79608A>G (p.Glu26536=) c.79407A>G (p.Glu26469=) c.79032A>G (p.Glu26344=) c.106227A>G (p.Glu35409=) c.101304A>G (p.Glu33768=) n.446+6752T>C n.220-5344T>C c.105324A>G (p.Glu35108=) c.79218A>G (p.Glu26406=) c.79077A>G (p.Glu26359=) c.105120A>G (p.Glu35040=) c.100518A>G (p.Glu33506=) c.100515A>G (p.Glu33505=) c.97557A>G (p.Glu32519=) c.79173A>G (p.Glu26391=) c.100668A>G (p.Glu33556=) c.100665A>G (p.Glu33555=) c.100098A>G (p.Glu33366=) c.97440A>G (p.Glu32480=) c.97359A>G (p.Glu32453=) c.79122A>G (p.Glu26374=) c.68976A>G (p.Glu22992=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530388T>G | CA349406526 | TTN,TTN-AS1 | c.98523A>C (p.Glu32841Asp) c.79608A>C (p.Glu26536Asp) c.79407A>C (p.Glu26469Asp) c.79032A>C (p.Glu26344Asp) c.106227A>C (p.Glu35409Asp) c.101304A>C (p.Glu33768Asp) n.446+6752T>G n.220-5344T>G c.105324A>C (p.Glu35108Asp) c.79218A>C (p.Glu26406Asp) c.79077A>C (p.Glu26359Asp) c.105120A>C (p.Glu35040Asp) c.100518A>C (p.Glu33506Asp) c.100515A>C (p.Glu33505Asp) c.97557A>C (p.Glu32519Asp) c.79173A>C (p.Glu26391Asp) c.100668A>C (p.Glu33556Asp) c.100665A>C (p.Glu33555Asp) c.100098A>C (p.Glu33366Asp) c.97440A>C (p.Glu32480Asp) c.97359A>C (p.Glu32453Asp) c.79122A>C (p.Glu26374Asp) c.68976A>C (p.Glu22992Asp) | |
2 | g.178530389T>A | CA349406533 | TTN,TTN-AS1 | c.98522A>T (p.Glu32841Val) c.79607A>T (p.Glu26536Val) c.79406A>T (p.Glu26469Val) c.79031A>T (p.Glu26344Val) c.106226A>T (p.Glu35409Val) c.101303A>T (p.Glu33768Val) n.446+6753T>A n.220-5343T>A c.105323A>T (p.Glu35108Val) c.79217A>T (p.Glu26406Val) c.79076A>T (p.Glu26359Val) c.105119A>T (p.Glu35040Val) c.100517A>T (p.Glu33506Val) c.100514A>T (p.Glu33505Val) c.97556A>T (p.Glu32519Val) c.79172A>T (p.Glu26391Val) c.100667A>T (p.Glu33556Val) c.100664A>T (p.Glu33555Val) c.100097A>T (p.Glu33366Val) c.97439A>T (p.Glu32480Val) c.97358A>T (p.Glu32453Val) c.79121A>T (p.Glu26374Val) c.68975A>T (p.Glu22992Val) | |
2 | g.178530389T>C | CA349406531 | TTN,TTN-AS1 | c.98522A>G (p.Glu32841Gly) c.79607A>G (p.Glu26536Gly) c.79406A>G (p.Glu26469Gly) c.79031A>G (p.Glu26344Gly) c.106226A>G (p.Glu35409Gly) c.101303A>G (p.Glu33768Gly) n.446+6753T>C n.220-5343T>C c.105323A>G (p.Glu35108Gly) c.79217A>G (p.Glu26406Gly) c.79076A>G (p.Glu26359Gly) c.105119A>G (p.Glu35040Gly) c.100517A>G (p.Glu33506Gly) c.100514A>G (p.Glu33505Gly) c.97556A>G (p.Glu32519Gly) c.79172A>G (p.Glu26391Gly) c.100667A>G (p.Glu33556Gly) c.100664A>G (p.Glu33555Gly) c.100097A>G (p.Glu33366Gly) c.97439A>G (p.Glu32480Gly) c.97358A>G (p.Glu32453Gly) c.79121A>G (p.Glu26374Gly) c.68975A>G (p.Glu22992Gly) | |
2 | g.178530389T>G | CA349406529 | TTN,TTN-AS1 | c.98522A>C (p.Glu32841Ala) c.79607A>C (p.Glu26536Ala) c.79406A>C (p.Glu26469Ala) c.79031A>C (p.Glu26344Ala) c.106226A>C (p.Glu35409Ala) c.101303A>C (p.Glu33768Ala) n.446+6753T>G n.220-5343T>G c.105323A>C (p.Glu35108Ala) c.79217A>C (p.Glu26406Ala) c.79076A>C (p.Glu26359Ala) c.105119A>C (p.Glu35040Ala) c.100517A>C (p.Glu33506Ala) c.100514A>C (p.Glu33505Ala) c.97556A>C (p.Glu32519Ala) c.79172A>C (p.Glu26391Ala) c.100667A>C (p.Glu33556Ala) c.100664A>C (p.Glu33555Ala) c.100097A>C (p.Glu33366Ala) c.97439A>C (p.Glu32480Ala) c.97358A>C (p.Glu32453Ala) c.79121A>C (p.Glu26374Ala) c.68975A>C (p.Glu22992Ala) | |
2 | g.178530390C>A | CA349406535 | TTN,TTN-AS1 | c.98521G>T (p.Glu32841Ter) c.79606G>T (p.Glu26536Ter) c.79405G>T (p.Glu26469Ter) c.79030G>T (p.Glu26344Ter) c.106225G>T (p.Glu35409Ter) c.101302G>T (p.Glu33768Ter) n.446+6754C>A n.220-5342C>A c.105322G>T (p.Glu35108Ter) c.79216G>T (p.Glu26406Ter) c.79075G>T (p.Glu26359Ter) c.105118G>T (p.Glu35040Ter) c.100516G>T (p.Glu33506Ter) c.100513G>T (p.Glu33505Ter) c.97555G>T (p.Glu32519Ter) c.79171G>T (p.Glu26391Ter) c.100666G>T (p.Glu33556Ter) c.100663G>T (p.Glu33555Ter) c.100096G>T (p.Glu33366Ter) c.97438G>T (p.Glu32480Ter) c.97357G>T (p.Glu32453Ter) c.79120G>T (p.Glu26374Ter) c.68974G>T (p.Glu22992Ter) | |
2 | g.178530390C= | CA1310514577 | TTN,TTN-AS1 | c.98521G= (p.Glu32841=) c.79606G= (p.Glu26536=) c.79405G= (p.Glu26469=) c.79030G= (p.Glu26344=) c.106225G= (p.Glu35409=) c.101302G= (p.Glu33768=) n.446+6754C= n.220-5342C= c.105322G= (p.Glu35108=) c.79216G= (p.Glu26406=) c.79075G= (p.Glu26359=) c.105118G= (p.Glu35040=) c.100516G= (p.Glu33506=) c.100513G= (p.Glu33505=) c.97555G= (p.Glu32519=) c.79171G= (p.Glu26391=) c.100666G= (p.Glu33556=) c.100663G= (p.Glu33555=) c.100096G= (p.Glu33366=) c.97438G= (p.Glu32480=) c.97357G= (p.Glu32453=) c.79120G= (p.Glu26374=) c.68974G= (p.Glu22992=) | |
2 | g.178530390C>G | CA349406540 | TTN,TTN-AS1 | c.98521G>C (p.Glu32841Gln) c.79606G>C (p.Glu26536Gln) c.79405G>C (p.Glu26469Gln) c.79030G>C (p.Glu26344Gln) c.106225G>C (p.Glu35409Gln) c.101302G>C (p.Glu33768Gln) n.446+6754C>G n.220-5342C>G c.105322G>C (p.Glu35108Gln) c.79216G>C (p.Glu26406Gln) c.79075G>C (p.Glu26359Gln) c.105118G>C (p.Glu35040Gln) c.100516G>C (p.Glu33506Gln) c.100513G>C (p.Glu33505Gln) c.97555G>C (p.Glu32519Gln) c.79171G>C (p.Glu26391Gln) c.100666G>C (p.Glu33556Gln) c.100663G>C (p.Glu33555Gln) c.100096G>C (p.Glu33366Gln) c.97438G>C (p.Glu32480Gln) c.97357G>C (p.Glu32453Gln) c.79120G>C (p.Glu26374Gln) c.68974G>C (p.Glu22992Gln) | |
2 | g.178530390C>T | CA349406537 | TTN,TTN-AS1 | c.98521G>A (p.Glu32841Lys) c.79606G>A (p.Glu26536Lys) c.79405G>A (p.Glu26469Lys) c.79030G>A (p.Glu26344Lys) c.106225G>A (p.Glu35409Lys) c.101302G>A (p.Glu33768Lys) n.446+6754C>T n.220-5342C>T c.105322G>A (p.Glu35108Lys) c.79216G>A (p.Glu26406Lys) c.79075G>A (p.Glu26359Lys) c.105118G>A (p.Glu35040Lys) c.100516G>A (p.Glu33506Lys) c.100513G>A (p.Glu33505Lys) c.97555G>A (p.Glu32519Lys) c.79171G>A (p.Glu26391Lys) c.100666G>A (p.Glu33556Lys) c.100663G>A (p.Glu33555Lys) c.100096G>A (p.Glu33366Lys) c.97438G>A (p.Glu32480Lys) c.97357G>A (p.Glu32453Lys) c.79120G>A (p.Glu26374Lys) c.68974G>A (p.Glu22992Lys) | dbSNP |