Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178618241G>ACA1995103TTN,TTN-AS1c.39513C>T (p.Gly13171=)
c.20598C>T (p.Gly6866=)
c.20397C>T (p.Gly6799=)
c.20022C>T (p.Gly6674=)
c.47217C>T (p.Gly15739=)
c.42294C>T (p.Gly14098=)
n.1605-1512G>A
c.46314C>T (p.Gly15438=)
c.20208C>T (p.Gly6736=)
c.20067C>T (p.Gly6689=)
c.46110C>T (p.Gly15370=)
c.41508C>T (p.Gly13836=)
c.41505C>T (p.Gly13835=)
c.38547C>T (p.Gly12849=)
c.20163C>T (p.Gly6721=)
c.41658C>T (p.Gly13886=)
c.41655C>T (p.Gly13885=)
c.41088C>T (p.Gly13696=)
c.38430C>T (p.Gly12810=)
c.38349C>T (p.Gly12783=)
c.20112C>T (p.Gly6704=)
c.9966C>T (p.Gly3322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618241G>CCA430274686TTN,TTN-AS1c.39513C>G (p.Gly13171=)
c.20598C>G (p.Gly6866=)
c.20397C>G (p.Gly6799=)
c.20022C>G (p.Gly6674=)
c.47217C>G (p.Gly15739=)
c.42294C>G (p.Gly14098=)
n.1605-1512G>C
c.46314C>G (p.Gly15438=)
c.20208C>G (p.Gly6736=)
c.20067C>G (p.Gly6689=)
c.46110C>G (p.Gly15370=)
c.41508C>G (p.Gly13836=)
c.41505C>G (p.Gly13835=)
c.38547C>G (p.Gly12849=)
c.20163C>G (p.Gly6721=)
c.41658C>G (p.Gly13886=)
c.41655C>G (p.Gly13885=)
c.41088C>G (p.Gly13696=)
c.38430C>G (p.Gly12810=)
c.38349C>G (p.Gly12783=)
c.20112C>G (p.Gly6704=)
c.9966C>G (p.Gly3322=)
2g.178618241G=CA1310550973TTN,TTN-AS1c.39513C= (p.Gly13171=)
c.20598C= (p.Gly6866=)
c.20397C= (p.Gly6799=)
c.20022C= (p.Gly6674=)
c.47217C= (p.Gly15739=)
c.42294C= (p.Gly14098=)
n.1605-1512G=
c.46314C= (p.Gly15438=)
c.20208C= (p.Gly6736=)
c.20067C= (p.Gly6689=)
c.46110C= (p.Gly15370=)
c.41508C= (p.Gly13836=)
c.41505C= (p.Gly13835=)
c.38547C= (p.Gly12849=)
c.20163C= (p.Gly6721=)
c.41658C= (p.Gly13886=)
c.41655C= (p.Gly13885=)
c.41088C= (p.Gly13696=)
c.38430C= (p.Gly12810=)
c.38349C= (p.Gly12783=)
c.20112C= (p.Gly6704=)
c.9966C= (p.Gly3322=)
2g.178618241G>TCA430274687TTN,TTN-AS1c.39513C>A (p.Gly13171=)
c.20598C>A (p.Gly6866=)
c.20397C>A (p.Gly6799=)
c.20022C>A (p.Gly6674=)
c.47217C>A (p.Gly15739=)
c.42294C>A (p.Gly14098=)
n.1605-1512G>T
c.46314C>A (p.Gly15438=)
c.20208C>A (p.Gly6736=)
c.20067C>A (p.Gly6689=)
c.46110C>A (p.Gly15370=)
c.41508C>A (p.Gly13836=)
c.41505C>A (p.Gly13835=)
c.38547C>A (p.Gly12849=)
c.20163C>A (p.Gly6721=)
c.41658C>A (p.Gly13886=)
c.41655C>A (p.Gly13885=)
c.41088C>A (p.Gly13696=)
c.38430C>A (p.Gly12810=)
c.38349C>A (p.Gly12783=)
c.20112C>A (p.Gly6704=)
c.9966C>A (p.Gly3322=)
2g.178618242C>ACA349619034TTN,TTN-AS1c.39512G>T (p.Gly13171Val)
c.20597G>T (p.Gly6866Val)
c.20396G>T (p.Gly6799Val)
c.20021G>T (p.Gly6674Val)
c.47216G>T (p.Gly15739Val)
c.42293G>T (p.Gly14098Val)
n.1605-1511C>A
c.46313G>T (p.Gly15438Val)
c.20207G>T (p.Gly6736Val)
c.20066G>T (p.Gly6689Val)
c.46109G>T (p.Gly15370Val)
c.41507G>T (p.Gly13836Val)
c.41504G>T (p.Gly13835Val)
c.38546G>T (p.Gly12849Val)
c.20162G>T (p.Gly6721Val)
c.41657G>T (p.Gly13886Val)
c.41654G>T (p.Gly13885Val)
c.41087G>T (p.Gly13696Val)
c.38429G>T (p.Gly12810Val)
c.38348G>T (p.Gly12783Val)
c.20111G>T (p.Gly6704Val)
c.9965G>T (p.Gly3322Val)
2g.178618242C>GCA349619040TTN,TTN-AS1c.39512G>C (p.Gly13171Ala)
c.20597G>C (p.Gly6866Ala)
c.20396G>C (p.Gly6799Ala)
c.20021G>C (p.Gly6674Ala)
c.47216G>C (p.Gly15739Ala)
c.42293G>C (p.Gly14098Ala)
n.1605-1511C>G
c.46313G>C (p.Gly15438Ala)
c.20207G>C (p.Gly6736Ala)
c.20066G>C (p.Gly6689Ala)
c.46109G>C (p.Gly15370Ala)
c.41507G>C (p.Gly13836Ala)
c.41504G>C (p.Gly13835Ala)
c.38546G>C (p.Gly12849Ala)
c.20162G>C (p.Gly6721Ala)
c.41657G>C (p.Gly13886Ala)
c.41654G>C (p.Gly13885Ala)
c.41087G>C (p.Gly13696Ala)
c.38429G>C (p.Gly12810Ala)
c.38348G>C (p.Gly12783Ala)
c.20111G>C (p.Gly6704Ala)
c.9965G>C (p.Gly3322Ala)
2g.178618242C>TCA349619043TTN,TTN-AS1c.39512G>A (p.Gly13171Asp)
c.20597G>A (p.Gly6866Asp)
c.20396G>A (p.Gly6799Asp)
c.20021G>A (p.Gly6674Asp)
c.47216G>A (p.Gly15739Asp)
c.42293G>A (p.Gly14098Asp)
n.1605-1511C>T
c.46313G>A (p.Gly15438Asp)
c.20207G>A (p.Gly6736Asp)
c.20066G>A (p.Gly6689Asp)
c.46109G>A (p.Gly15370Asp)
c.41507G>A (p.Gly13836Asp)
c.41504G>A (p.Gly13835Asp)
c.38546G>A (p.Gly12849Asp)
c.20162G>A (p.Gly6721Asp)
c.41657G>A (p.Gly13886Asp)
c.41654G>A (p.Gly13885Asp)
c.41087G>A (p.Gly13696Asp)
c.38429G>A (p.Gly12810Asp)
c.38348G>A (p.Gly12783Asp)
c.20111G>A (p.Gly6704Asp)
c.9965G>A (p.Gly3322Asp)
 ClinVar dbSNP gnomAD v4
2g.178618243C>ACA349619047TTN,TTN-AS1c.39511G>T (p.Gly13171Cys)
c.20596G>T (p.Gly6866Cys)
c.20395G>T (p.Gly6799Cys)
c.20020G>T (p.Gly6674Cys)
c.47215G>T (p.Gly15739Cys)
c.42292G>T (p.Gly14098Cys)
n.1605-1510C>A
c.46312G>T (p.Gly15438Cys)
c.20206G>T (p.Gly6736Cys)
c.20065G>T (p.Gly6689Cys)
c.46108G>T (p.Gly15370Cys)
c.41506G>T (p.Gly13836Cys)
c.41503G>T (p.Gly13835Cys)
c.38545G>T (p.Gly12849Cys)
c.20161G>T (p.Gly6721Cys)
c.41656G>T (p.Gly13886Cys)
c.41653G>T (p.Gly13885Cys)
c.41086G>T (p.Gly13696Cys)
c.38428G>T (p.Gly12810Cys)
c.38347G>T (p.Gly12783Cys)
c.20110G>T (p.Gly6704Cys)
c.9964G>T (p.Gly3322Cys)
2g.178618243C>GCA349619048TTN,TTN-AS1c.39511G>C (p.Gly13171Arg)
c.20596G>C (p.Gly6866Arg)
c.20395G>C (p.Gly6799Arg)
c.20020G>C (p.Gly6674Arg)
c.47215G>C (p.Gly15739Arg)
c.42292G>C (p.Gly14098Arg)
n.1605-1510C>G
c.46312G>C (p.Gly15438Arg)
c.20206G>C (p.Gly6736Arg)
c.20065G>C (p.Gly6689Arg)
c.46108G>C (p.Gly15370Arg)
c.41506G>C (p.Gly13836Arg)
c.41503G>C (p.Gly13835Arg)
c.38545G>C (p.Gly12849Arg)
c.20161G>C (p.Gly6721Arg)
c.41656G>C (p.Gly13886Arg)
c.41653G>C (p.Gly13885Arg)
c.41086G>C (p.Gly13696Arg)
c.38428G>C (p.Gly12810Arg)
c.38347G>C (p.Gly12783Arg)
c.20110G>C (p.Gly6704Arg)
c.9964G>C (p.Gly3322Arg)
2g.178618243C>TCA349619050TTN,TTN-AS1c.39511G>A (p.Gly13171Ser)
c.20596G>A (p.Gly6866Ser)
c.20395G>A (p.Gly6799Ser)
c.20020G>A (p.Gly6674Ser)
c.47215G>A (p.Gly15739Ser)
c.42292G>A (p.Gly14098Ser)
n.1605-1510C>T
c.46312G>A (p.Gly15438Ser)
c.20206G>A (p.Gly6736Ser)
c.20065G>A (p.Gly6689Ser)
c.46108G>A (p.Gly15370Ser)
c.41506G>A (p.Gly13836Ser)
c.41503G>A (p.Gly13835Ser)
c.38545G>A (p.Gly12849Ser)
c.20161G>A (p.Gly6721Ser)
c.41656G>A (p.Gly13886Ser)
c.41653G>A (p.Gly13885Ser)
c.41086G>A (p.Gly13696Ser)
c.38428G>A (p.Gly12810Ser)
c.38347G>A (p.Gly12783Ser)
c.20110G>A (p.Gly6704Ser)
c.9964G>A (p.Gly3322Ser)
2g.178618244A>CCA430274436TTN,TTN-AS1c.39510T>G (p.Val13170=)
c.20595T>G (p.Val6865=)
c.20394T>G (p.Val6798=)
c.20019T>G (p.Val6673=)
c.47214T>G (p.Val15738=)
c.42291T>G (p.Val14097=)
n.1605-1509A>C
c.46311T>G (p.Val15437=)
c.20205T>G (p.Val6735=)
c.20064T>G (p.Val6688=)
c.46107T>G (p.Val15369=)
c.41505T>G (p.Val13835=)
c.41502T>G (p.Val13834=)
c.38544T>G (p.Val12848=)
c.20160T>G (p.Val6720=)
c.41655T>G (p.Val13885=)
c.41652T>G (p.Val13884=)
c.41085T>G (p.Val13695=)
c.38427T>G (p.Val12809=)
c.38346T>G (p.Val12782=)
c.20109T>G (p.Val6703=)
c.9963T>G (p.Val3321=)
2g.178618244A>GCA430274437TTN,TTN-AS1c.39510T>C (p.Val13170=)
c.20595T>C (p.Val6865=)
c.20394T>C (p.Val6798=)
c.20019T>C (p.Val6673=)
c.47214T>C (p.Val15738=)
c.42291T>C (p.Val14097=)
n.1605-1509A>G
c.46311T>C (p.Val15437=)
c.20205T>C (p.Val6735=)
c.20064T>C (p.Val6688=)
c.46107T>C (p.Val15369=)
c.41505T>C (p.Val13835=)
c.41502T>C (p.Val13834=)
c.38544T>C (p.Val12848=)
c.20160T>C (p.Val6720=)
c.41655T>C (p.Val13885=)
c.41652T>C (p.Val13884=)
c.41085T>C (p.Val13695=)
c.38427T>C (p.Val12809=)
c.38346T>C (p.Val12782=)
c.20109T>C (p.Val6703=)
c.9963T>C (p.Val3321=)
2g.178618244A>TCA430274438TTN,TTN-AS1c.39510T>A (p.Val13170=)
c.20595T>A (p.Val6865=)
c.20394T>A (p.Val6798=)
c.20019T>A (p.Val6673=)
c.47214T>A (p.Val15738=)
c.42291T>A (p.Val14097=)
n.1605-1509A>T
c.46311T>A (p.Val15437=)
c.20205T>A (p.Val6735=)
c.20064T>A (p.Val6688=)
c.46107T>A (p.Val15369=)
c.41505T>A (p.Val13835=)
c.41502T>A (p.Val13834=)
c.38544T>A (p.Val12848=)
c.20160T>A (p.Val6720=)
c.41655T>A (p.Val13885=)
c.41652T>A (p.Val13884=)
c.41085T>A (p.Val13695=)
c.38427T>A (p.Val12809=)
c.38346T>A (p.Val12782=)
c.20109T>A (p.Val6703=)
c.9963T>A (p.Val3321=)
2g.178618245A>CCA349619054TTN,TTN-AS1c.39509T>G (p.Val13170Gly)
c.20594T>G (p.Val6865Gly)
c.20393T>G (p.Val6798Gly)
c.20018T>G (p.Val6673Gly)
c.47213T>G (p.Val15738Gly)
c.42290T>G (p.Val14097Gly)
n.1605-1508A>C
c.46310T>G (p.Val15437Gly)
c.20204T>G (p.Val6735Gly)
c.20063T>G (p.Val6688Gly)
c.46106T>G (p.Val15369Gly)
c.41504T>G (p.Val13835Gly)
c.41501T>G (p.Val13834Gly)
c.38543T>G (p.Val12848Gly)
c.20159T>G (p.Val6720Gly)
c.41654T>G (p.Val13885Gly)
c.41651T>G (p.Val13884Gly)
c.41084T>G (p.Val13695Gly)
c.38426T>G (p.Val12809Gly)
c.38345T>G (p.Val12782Gly)
c.20108T>G (p.Val6703Gly)
c.9962T>G (p.Val3321Gly)
2g.178618245A>GCA349619058TTN,TTN-AS1c.39509T>C (p.Val13170Ala)
c.20594T>C (p.Val6865Ala)
c.20393T>C (p.Val6798Ala)
c.20018T>C (p.Val6673Ala)
c.47213T>C (p.Val15738Ala)
c.42290T>C (p.Val14097Ala)
n.1605-1508A>G
c.46310T>C (p.Val15437Ala)
c.20204T>C (p.Val6735Ala)
c.20063T>C (p.Val6688Ala)
c.46106T>C (p.Val15369Ala)
c.41504T>C (p.Val13835Ala)
c.41501T>C (p.Val13834Ala)
c.38543T>C (p.Val12848Ala)
c.20159T>C (p.Val6720Ala)
c.41654T>C (p.Val13885Ala)
c.41651T>C (p.Val13884Ala)
c.41084T>C (p.Val13695Ala)
c.38426T>C (p.Val12809Ala)
c.38345T>C (p.Val12782Ala)
c.20108T>C (p.Val6703Ala)
c.9962T>C (p.Val3321Ala)
 gnomAD v4
2g.178618245A>TCA349619057TTN,TTN-AS1c.39509T>A (p.Val13170Asp)
c.20594T>A (p.Val6865Asp)
c.20393T>A (p.Val6798Asp)
c.20018T>A (p.Val6673Asp)
c.47213T>A (p.Val15738Asp)
c.42290T>A (p.Val14097Asp)
n.1605-1508A>T
c.46310T>A (p.Val15437Asp)
c.20204T>A (p.Val6735Asp)
c.20063T>A (p.Val6688Asp)
c.46106T>A (p.Val15369Asp)
c.41504T>A (p.Val13835Asp)
c.41501T>A (p.Val13834Asp)
c.38543T>A (p.Val12848Asp)
c.20159T>A (p.Val6720Asp)
c.41654T>A (p.Val13885Asp)
c.41651T>A (p.Val13884Asp)
c.41084T>A (p.Val13695Asp)
c.38426T>A (p.Val12809Asp)
c.38345T>A (p.Val12782Asp)
c.20108T>A (p.Val6703Asp)
c.9962T>A (p.Val3321Asp)
2g.178618246C>ACA349619062TTN,TTN-AS1c.39508G>T (p.Val13170Phe)
c.20593G>T (p.Val6865Phe)
c.20392G>T (p.Val6798Phe)
c.20017G>T (p.Val6673Phe)
c.47212G>T (p.Val15738Phe)
c.42289G>T (p.Val14097Phe)
n.1605-1507C>A
c.46309G>T (p.Val15437Phe)
c.20203G>T (p.Val6735Phe)
c.20062G>T (p.Val6688Phe)
c.46105G>T (p.Val15369Phe)
c.41503G>T (p.Val13835Phe)
c.41500G>T (p.Val13834Phe)
c.38542G>T (p.Val12848Phe)
c.20158G>T (p.Val6720Phe)
c.41653G>T (p.Val13885Phe)
c.41650G>T (p.Val13884Phe)
c.41083G>T (p.Val13695Phe)
c.38425G>T (p.Val12809Phe)
c.38344G>T (p.Val12782Phe)
c.20107G>T (p.Val6703Phe)
c.9961G>T (p.Val3321Phe)
2g.178618246C>GCA349619064TTN,TTN-AS1c.39508G>C (p.Val13170Leu)
c.20593G>C (p.Val6865Leu)
c.20392G>C (p.Val6798Leu)
c.20017G>C (p.Val6673Leu)
c.47212G>C (p.Val15738Leu)
c.42289G>C (p.Val14097Leu)
n.1605-1507C>G
c.46309G>C (p.Val15437Leu)
c.20203G>C (p.Val6735Leu)
c.20062G>C (p.Val6688Leu)
c.46105G>C (p.Val15369Leu)
c.41503G>C (p.Val13835Leu)
c.41500G>C (p.Val13834Leu)
c.38542G>C (p.Val12848Leu)
c.20158G>C (p.Val6720Leu)
c.41653G>C (p.Val13885Leu)
c.41650G>C (p.Val13884Leu)
c.41083G>C (p.Val13695Leu)
c.38425G>C (p.Val12809Leu)
c.38344G>C (p.Val12782Leu)
c.20107G>C (p.Val6703Leu)
c.9961G>C (p.Val3321Leu)
2g.178618246C>TCA349619067TTN,TTN-AS1c.39508G>A (p.Val13170Ile)
c.20593G>A (p.Val6865Ile)
c.20392G>A (p.Val6798Ile)
c.20017G>A (p.Val6673Ile)
c.47212G>A (p.Val15738Ile)
c.42289G>A (p.Val14097Ile)
n.1605-1507C>T
c.46309G>A (p.Val15437Ile)
c.20203G>A (p.Val6735Ile)
c.20062G>A (p.Val6688Ile)
c.46105G>A (p.Val15369Ile)
c.41503G>A (p.Val13835Ile)
c.41500G>A (p.Val13834Ile)
c.38542G>A (p.Val12848Ile)
c.20158G>A (p.Val6720Ile)
c.41653G>A (p.Val13885Ile)
c.41650G>A (p.Val13884Ile)
c.41083G>A (p.Val13695Ile)
c.38425G>A (p.Val12809Ile)
c.38344G>A (p.Val12782Ile)
c.20107G>A (p.Val6703Ile)
c.9961G>A (p.Val3321Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178618248_178618249delCA2697551417TTN,TTN-AS1c.39507_39508del (p.Arg13169SerfsTer5)
c.20592_20593del (p.Arg6864SerfsTer5)
c.20391_20392del (p.Arg6797SerfsTer5)
c.20016_20017del (p.Arg6672SerfsTer5)
c.47211_47212del (p.Arg15737SerfsTer5)
c.42288_42289del (p.Arg14096SerfsTer5)
n.1605-1505_1605-1504del
c.46308_46309del (p.Arg15436SerfsTer5)
c.20202_20203del (p.Arg6734SerfsTer5)
c.20061_20062del (p.Arg6687SerfsTer5)
c.46104_46105del (p.Arg15368SerfsTer5)
c.41502_41503del (p.Arg13834SerfsTer5)
c.41499_41500del (p.Arg13833SerfsTer5)
c.38541_38542del (p.Arg12847SerfsTer5)
c.20157_20158del (p.Arg6719SerfsTer5)
c.41652_41653del (p.Arg13884SerfsTer5)
c.41649_41650del (p.Arg13883SerfsTer5)
c.41082_41083del (p.Arg13694SerfsTer5)
c.38424_38425del (p.Arg12808SerfsTer5)
c.38343_38344del (p.Arg12781SerfsTer5)
c.20106_20107del (p.Arg6702SerfsTer5)
c.9960_9961del (p.Arg3320SerfsTer5)
 ClinVar
2g.178618247T>ACA349619075TTN,TTN-AS1c.39507A>T (p.Arg13169Ser)
c.20592A>T (p.Arg6864Ser)
c.20391A>T (p.Arg6797Ser)
c.20016A>T (p.Arg6672Ser)
c.47211A>T (p.Arg15737Ser)
c.42288A>T (p.Arg14096Ser)
n.1605-1506T>A
c.46308A>T (p.Arg15436Ser)
c.20202A>T (p.Arg6734Ser)
c.20061A>T (p.Arg6687Ser)
c.46104A>T (p.Arg15368Ser)
c.41502A>T (p.Arg13834Ser)
c.41499A>T (p.Arg13833Ser)
c.38541A>T (p.Arg12847Ser)
c.20157A>T (p.Arg6719Ser)
c.41652A>T (p.Arg13884Ser)
c.41649A>T (p.Arg13883Ser)
c.41082A>T (p.Arg13694Ser)
c.38424A>T (p.Arg12808Ser)
c.38343A>T (p.Arg12781Ser)
c.20106A>T (p.Arg6702Ser)
c.9960A>T (p.Arg3320Ser)
2g.178618247T>CCA430274447TTN,TTN-AS1c.39507A>G (p.Arg13169=)
c.20592A>G (p.Arg6864=)
c.20391A>G (p.Arg6797=)
c.20016A>G (p.Arg6672=)
c.47211A>G (p.Arg15737=)
c.42288A>G (p.Arg14096=)
n.1605-1506T>C
c.46308A>G (p.Arg15436=)
c.20202A>G (p.Arg6734=)
c.20061A>G (p.Arg6687=)
c.46104A>G (p.Arg15368=)
c.41502A>G (p.Arg13834=)
c.41499A>G (p.Arg13833=)
c.38541A>G (p.Arg12847=)
c.20157A>G (p.Arg6719=)
c.41652A>G (p.Arg13884=)
c.41649A>G (p.Arg13883=)
c.41082A>G (p.Arg13694=)
c.38424A>G (p.Arg12808=)
c.38343A>G (p.Arg12781=)
c.20106A>G (p.Arg6702=)
c.9960A>G (p.Arg3320=)
2g.178618247T>GCA178837TTN,TTN-AS1c.39507A>C (p.Arg13169Ser)
c.20592A>C (p.Arg6864Ser)
c.20391A>C (p.Arg6797Ser)
c.20016A>C (p.Arg6672Ser)
c.47211A>C (p.Arg15737Ser)
c.42288A>C (p.Arg14096Ser)
n.1605-1506T>G
c.46308A>C (p.Arg15436Ser)
c.20202A>C (p.Arg6734Ser)
c.20061A>C (p.Arg6687Ser)
c.46104A>C (p.Arg15368Ser)
c.41502A>C (p.Arg13834Ser)
c.41499A>C (p.Arg13833Ser)
c.38541A>C (p.Arg12847Ser)
c.20157A>C (p.Arg6719Ser)
c.41652A>C (p.Arg13884Ser)
c.41649A>C (p.Arg13883Ser)
c.41082A>C (p.Arg13694Ser)
c.38424A>C (p.Arg12808Ser)
c.38343A>C (p.Arg12781Ser)
c.20106A>C (p.Arg6702Ser)
c.9960A>C (p.Arg3320Ser)
 ClinVar dbSNP
2g.178618247T=CA1310550974TTN,TTN-AS1c.39507A= (p.Arg13169=)
c.20592A= (p.Arg6864=)
c.20391A= (p.Arg6797=)
c.20016A= (p.Arg6672=)
c.47211A= (p.Arg15737=)
c.42288A= (p.Arg14096=)
n.1605-1506T=
c.46308A= (p.Arg15436=)
c.20202A= (p.Arg6734=)
c.20061A= (p.Arg6687=)
c.46104A= (p.Arg15368=)
c.41502A= (p.Arg13834=)
c.41499A= (p.Arg13833=)
c.38541A= (p.Arg12847=)
c.20157A= (p.Arg6719=)
c.41652A= (p.Arg13884=)
c.41649A= (p.Arg13883=)
c.41082A= (p.Arg13694=)
c.38424A= (p.Arg12808=)
c.38343A= (p.Arg12781=)
c.20106A= (p.Arg6702=)
c.9960A= (p.Arg3320=)
2g.178618248C>ACA349619084TTN,TTN-AS1c.39506G>T (p.Arg13169Ile)
c.20591G>T (p.Arg6864Ile)
c.20390G>T (p.Arg6797Ile)
c.20015G>T (p.Arg6672Ile)
c.47210G>T (p.Arg15737Ile)
c.42287G>T (p.Arg14096Ile)
n.1605-1505C>A
c.46307G>T (p.Arg15436Ile)
c.20201G>T (p.Arg6734Ile)
c.20060G>T (p.Arg6687Ile)
c.46103G>T (p.Arg15368Ile)
c.41501G>T (p.Arg13834Ile)
c.41498G>T (p.Arg13833Ile)
c.38540G>T (p.Arg12847Ile)
c.20156G>T (p.Arg6719Ile)
c.41651G>T (p.Arg13884Ile)
c.41648G>T (p.Arg13883Ile)
c.41081G>T (p.Arg13694Ile)
c.38423G>T (p.Arg12808Ile)
c.38342G>T (p.Arg12781Ile)
c.20105G>T (p.Arg6702Ile)
c.9959G>T (p.Arg3320Ile)
2g.178618248C=CA1310550975TTN,TTN-AS1c.39506G= (p.Arg13169=)
c.20591G= (p.Arg6864=)
c.20390G= (p.Arg6797=)
c.20015G= (p.Arg6672=)
c.47210G= (p.Arg15737=)
c.42287G= (p.Arg14096=)
n.1605-1505C=
c.46307G= (p.Arg15436=)
c.20201G= (p.Arg6734=)
c.20060G= (p.Arg6687=)
c.46103G= (p.Arg15368=)
c.41501G= (p.Arg13834=)
c.41498G= (p.Arg13833=)
c.38540G= (p.Arg12847=)
c.20156G= (p.Arg6719=)
c.41651G= (p.Arg13884=)
c.41648G= (p.Arg13883=)
c.41081G= (p.Arg13694=)
c.38423G= (p.Arg12808=)
c.38342G= (p.Arg12781=)
c.20105G= (p.Arg6702=)
c.9959G= (p.Arg3320=)
2g.178618248C>GCA349619082TTN,TTN-AS1c.39506G>C (p.Arg13169Thr)
c.20591G>C (p.Arg6864Thr)
c.20390G>C (p.Arg6797Thr)
c.20015G>C (p.Arg6672Thr)
c.47210G>C (p.Arg15737Thr)
c.42287G>C (p.Arg14096Thr)
n.1605-1505C>G
c.46307G>C (p.Arg15436Thr)
c.20201G>C (p.Arg6734Thr)
c.20060G>C (p.Arg6687Thr)
c.46103G>C (p.Arg15368Thr)
c.41501G>C (p.Arg13834Thr)
c.41498G>C (p.Arg13833Thr)
c.38540G>C (p.Arg12847Thr)
c.20156G>C (p.Arg6719Thr)
c.41651G>C (p.Arg13884Thr)
c.41648G>C (p.Arg13883Thr)
c.41081G>C (p.Arg13694Thr)
c.38423G>C (p.Arg12808Thr)
c.38342G>C (p.Arg12781Thr)
c.20105G>C (p.Arg6702Thr)
c.9959G>C (p.Arg3320Thr)
2g.178618248C>TCA349619080TTN,TTN-AS1c.39506G>A (p.Arg13169Lys)
c.20591G>A (p.Arg6864Lys)
c.20390G>A (p.Arg6797Lys)
c.20015G>A (p.Arg6672Lys)
c.47210G>A (p.Arg15737Lys)
c.42287G>A (p.Arg14096Lys)
n.1605-1505C>T
c.46307G>A (p.Arg15436Lys)
c.20201G>A (p.Arg6734Lys)
c.20060G>A (p.Arg6687Lys)
c.46103G>A (p.Arg15368Lys)
c.41501G>A (p.Arg13834Lys)
c.41498G>A (p.Arg13833Lys)
c.38540G>A (p.Arg12847Lys)
c.20156G>A (p.Arg6719Lys)
c.41651G>A (p.Arg13884Lys)
c.41648G>A (p.Arg13883Lys)
c.41081G>A (p.Arg13694Lys)
c.38423G>A (p.Arg12808Lys)
c.38342G>A (p.Arg12781Lys)
c.20105G>A (p.Arg6702Lys)
c.9959G>A (p.Arg3320Lys)
 dbSNP
2g.178618248_178618250delinsCTGCA1310550976TTN,TTN-AS1c.39504_39506delinsCAG (p.Asn13168=)
c.20589_20591delinsCAG (p.Asn6863=)
c.20388_20390delinsCAG (p.Asn6796=)
c.20013_20015delinsCAG (p.Asn6671=)
c.47208_47210delinsCAG (p.Asn15736=)
c.42285_42287delinsCAG (p.Asn14095=)
n.1605-1505_1605-1503delinsCTG
c.46305_46307delinsCAG (p.Asn15435=)
c.20199_20201delinsCAG (p.Asn6733=)
c.20058_20060delinsCAG (p.Asn6686=)
c.46101_46103delinsCAG (p.Asn15367=)
c.41499_41501delinsCAG (p.Asn13833=)
c.41496_41498delinsCAG (p.Asn13832=)
c.38538_38540delinsCAG (p.Asn12846=)
c.20154_20156delinsCAG (p.Asn6718=)
c.41649_41651delinsCAG (p.Asn13883=)
c.41646_41648delinsCAG (p.Asn13882=)
c.41079_41081delinsCAG (p.Asn13693=)
c.38421_38423delinsCAG (p.Asn12807=)
c.38340_38342delinsCAG (p.Asn12780=)
c.20103_20105delinsCAG (p.Asn6701=)
c.9957_9959delinsCAG (p.Asn3319=)
2g.178618249T>ACA349619091TTN,TTN-AS1c.39505A>T (p.Arg13169Ter)
c.20590A>T (p.Arg6864Ter)
c.20389A>T (p.Arg6797Ter)
c.20014A>T (p.Arg6672Ter)
c.47209A>T (p.Arg15737Ter)
c.42286A>T (p.Arg14096Ter)
n.1605-1504T>A
c.46306A>T (p.Arg15436Ter)
c.20200A>T (p.Arg6734Ter)
c.20059A>T (p.Arg6687Ter)
c.46102A>T (p.Arg15368Ter)
c.41500A>T (p.Arg13834Ter)
c.41497A>T (p.Arg13833Ter)
c.38539A>T (p.Arg12847Ter)
c.20155A>T (p.Arg6719Ter)
c.41650A>T (p.Arg13884Ter)
c.41647A>T (p.Arg13883Ter)
c.41080A>T (p.Arg13694Ter)
c.38422A>T (p.Arg12808Ter)
c.38341A>T (p.Arg12781Ter)
c.20104A>T (p.Arg6702Ter)
c.9958A>T (p.Arg3320Ter)
2g.178618249T>CCA60990713TTN,TTN-AS1c.39505A>G (p.Arg13169Gly)
c.20590A>G (p.Arg6864Gly)
c.20389A>G (p.Arg6797Gly)
c.20014A>G (p.Arg6672Gly)
c.47209A>G (p.Arg15737Gly)
c.42286A>G (p.Arg14096Gly)
n.1605-1504T>C
c.46306A>G (p.Arg15436Gly)
c.20200A>G (p.Arg6734Gly)
c.20059A>G (p.Arg6687Gly)
c.46102A>G (p.Arg15368Gly)
c.41500A>G (p.Arg13834Gly)
c.41497A>G (p.Arg13833Gly)
c.38539A>G (p.Arg12847Gly)
c.20155A>G (p.Arg6719Gly)
c.41650A>G (p.Arg13884Gly)
c.41647A>G (p.Arg13883Gly)
c.41080A>G (p.Arg13694Gly)
c.38422A>G (p.Arg12808Gly)
c.38341A>G (p.Arg12781Gly)
c.20104A>G (p.Arg6702Gly)
c.9958A>G (p.Arg3320Gly)
 dbSNP gnomAD v4
2g.178618249T>GCA1995105TTN,TTN-AS1c.39505A>C (p.Arg13169=)
c.20590A>C (p.Arg6864=)
c.20389A>C (p.Arg6797=)
c.20014A>C (p.Arg6672=)
c.47209A>C (p.Arg15737=)
c.42286A>C (p.Arg14096=)
n.1605-1504T>G
c.46306A>C (p.Arg15436=)
c.20200A>C (p.Arg6734=)
c.20059A>C (p.Arg6687=)
c.46102A>C (p.Arg15368=)
c.41500A>C (p.Arg13834=)
c.41497A>C (p.Arg13833=)
c.38539A>C (p.Arg12847=)
c.20155A>C (p.Arg6719=)
c.41650A>C (p.Arg13884=)
c.41647A>C (p.Arg13883=)
c.41080A>C (p.Arg13694=)
c.38422A>C (p.Arg12808=)
c.38341A>C (p.Arg12781=)
c.20104A>C (p.Arg6702=)
c.9958A>C (p.Arg3320=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618249T=CA1310550977TTN,TTN-AS1c.39505A= (p.Arg13169=)
c.20590A= (p.Arg6864=)
c.20389A= (p.Arg6797=)
c.20014A= (p.Arg6672=)
c.47209A= (p.Arg15737=)
c.42286A= (p.Arg14096=)
n.1605-1504T=
c.46306A= (p.Arg15436=)
c.20200A= (p.Arg6734=)
c.20059A= (p.Arg6687=)
c.46102A= (p.Arg15368=)
c.41500A= (p.Arg13834=)
c.41497A= (p.Arg13833=)
c.38539A= (p.Arg12847=)
c.20155A= (p.Arg6719=)
c.41650A= (p.Arg13884=)
c.41647A= (p.Arg13883=)
c.41080A= (p.Arg13694=)
c.38422A= (p.Arg12808=)
c.38341A= (p.Arg12781=)
c.20104A= (p.Arg6702=)
c.9958A= (p.Arg3320=)
2g.178618250_178618251delCA1995104TTN,TTN-AS1c.39504_39505del (p.Asn13168LysfsTer6)
c.20589_20590del (p.Asn6863LysfsTer6)
c.20388_20389del (p.Asn6796LysfsTer6)
c.20013_20014del (p.Asn6671LysfsTer6)
c.47208_47209del (p.Asn15736LysfsTer6)
c.42285_42286del (p.Asn14095LysfsTer6)
n.1605-1503_1605-1502del
c.46305_46306del (p.Asn15435LysfsTer6)
c.20199_20200del (p.Asn6733LysfsTer6)
c.20058_20059del (p.Asn6686LysfsTer6)
c.46101_46102del (p.Asn15367LysfsTer6)
c.41499_41500del (p.Asn13833LysfsTer6)
c.41496_41497del (p.Asn13832LysfsTer6)
c.38538_38539del (p.Asn12846LysfsTer6)
c.20154_20155del (p.Asn6718LysfsTer6)
c.41649_41650del (p.Asn13883LysfsTer6)
c.41646_41647del (p.Asn13882LysfsTer6)
c.41079_41080del (p.Asn13693LysfsTer6)
c.38421_38422del (p.Asn12807LysfsTer6)
c.38340_38341del (p.Asn12780LysfsTer6)
c.20103_20104del (p.Asn6701LysfsTer6)
c.9957_9958del (p.Asn3319LysfsTer6)
 dbSNP ExAC gnomAD v2
2g.178618250G>ACA430274464TTN,TTN-AS1c.39504C>T (p.Asn13168=)
c.20589C>T (p.Asn6863=)
c.20388C>T (p.Asn6796=)
c.20013C>T (p.Asn6671=)
c.47208C>T (p.Asn15736=)
c.42285C>T (p.Asn14095=)
n.1605-1503G>A
c.46305C>T (p.Asn15435=)
c.20199C>T (p.Asn6733=)
c.20058C>T (p.Asn6686=)
c.46101C>T (p.Asn15367=)
c.41499C>T (p.Asn13833=)
c.41496C>T (p.Asn13832=)
c.38538C>T (p.Asn12846=)
c.20154C>T (p.Asn6718=)
c.41649C>T (p.Asn13883=)
c.41646C>T (p.Asn13882=)
c.41079C>T (p.Asn13693=)
c.38421C>T (p.Asn12807=)
c.38340C>T (p.Asn12780=)
c.20103C>T (p.Asn6701=)
c.9957C>T (p.Asn3319=)
 COSMIC COSMIC COSMIC COSMIC
2g.178618250G>CCA349619096TTN,TTN-AS1c.39504C>G (p.Asn13168Lys)
c.20589C>G (p.Asn6863Lys)
c.20388C>G (p.Asn6796Lys)
c.20013C>G (p.Asn6671Lys)
c.47208C>G (p.Asn15736Lys)
c.42285C>G (p.Asn14095Lys)
n.1605-1503G>C
c.46305C>G (p.Asn15435Lys)
c.20199C>G (p.Asn6733Lys)
c.20058C>G (p.Asn6686Lys)
c.46101C>G (p.Asn15367Lys)
c.41499C>G (p.Asn13833Lys)
c.41496C>G (p.Asn13832Lys)
c.38538C>G (p.Asn12846Lys)
c.20154C>G (p.Asn6718Lys)
c.41649C>G (p.Asn13883Lys)
c.41646C>G (p.Asn13882Lys)
c.41079C>G (p.Asn13693Lys)
c.38421C>G (p.Asn12807Lys)
c.38340C>G (p.Asn12780Lys)
c.20103C>G (p.Asn6701Lys)
c.9957C>G (p.Asn3319Lys)
2g.178618250G>TCA349619099TTN,TTN-AS1c.39504C>A (p.Asn13168Lys)
c.20589C>A (p.Asn6863Lys)
c.20388C>A (p.Asn6796Lys)
c.20013C>A (p.Asn6671Lys)
c.47208C>A (p.Asn15736Lys)
c.42285C>A (p.Asn14095Lys)
n.1605-1503G>T
c.46305C>A (p.Asn15435Lys)
c.20199C>A (p.Asn6733Lys)
c.20058C>A (p.Asn6686Lys)
c.46101C>A (p.Asn15367Lys)
c.41499C>A (p.Asn13833Lys)
c.41496C>A (p.Asn13832Lys)
c.38538C>A (p.Asn12846Lys)
c.20154C>A (p.Asn6718Lys)
c.41649C>A (p.Asn13883Lys)
c.41646C>A (p.Asn13882Lys)
c.41079C>A (p.Asn13693Lys)
c.38421C>A (p.Asn12807Lys)
c.38340C>A (p.Asn12780Lys)
c.20103C>A (p.Asn6701Lys)
c.9957C>A (p.Asn3319Lys)
2g.178618251T>ACA349619104TTN,TTN-AS1c.39503A>T (p.Asn13168Ile)
c.20588A>T (p.Asn6863Ile)
c.20387A>T (p.Asn6796Ile)
c.20012A>T (p.Asn6671Ile)
c.47207A>T (p.Asn15736Ile)
c.42284A>T (p.Asn14095Ile)
n.1605-1502T>A
c.46304A>T (p.Asn15435Ile)
c.20198A>T (p.Asn6733Ile)
c.20057A>T (p.Asn6686Ile)
c.46100A>T (p.Asn15367Ile)
c.41498A>T (p.Asn13833Ile)
c.41495A>T (p.Asn13832Ile)
c.38537A>T (p.Asn12846Ile)
c.20153A>T (p.Asn6718Ile)
c.41648A>T (p.Asn13883Ile)
c.41645A>T (p.Asn13882Ile)
c.41078A>T (p.Asn13693Ile)
c.38420A>T (p.Asn12807Ile)
c.38339A>T (p.Asn12780Ile)
c.20102A>T (p.Asn6701Ile)
c.9956A>T (p.Asn3319Ile)
2g.178618251T>CCA349619109TTN,TTN-AS1c.39503A>G (p.Asn13168Ser)
c.20588A>G (p.Asn6863Ser)
c.20387A>G (p.Asn6796Ser)
c.20012A>G (p.Asn6671Ser)
c.47207A>G (p.Asn15736Ser)
c.42284A>G (p.Asn14095Ser)
n.1605-1502T>C
c.46304A>G (p.Asn15435Ser)
c.20198A>G (p.Asn6733Ser)
c.20057A>G (p.Asn6686Ser)
c.46100A>G (p.Asn15367Ser)
c.41498A>G (p.Asn13833Ser)
c.41495A>G (p.Asn13832Ser)
c.38537A>G (p.Asn12846Ser)
c.20153A>G (p.Asn6718Ser)
c.41648A>G (p.Asn13883Ser)
c.41645A>G (p.Asn13882Ser)
c.41078A>G (p.Asn13693Ser)
c.38420A>G (p.Asn12807Ser)
c.38339A>G (p.Asn12780Ser)
c.20102A>G (p.Asn6701Ser)
c.9956A>G (p.Asn3319Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178618251T>GCA349619106TTN,TTN-AS1c.39503A>C (p.Asn13168Thr)
c.20588A>C (p.Asn6863Thr)
c.20387A>C (p.Asn6796Thr)
c.20012A>C (p.Asn6671Thr)
c.47207A>C (p.Asn15736Thr)
c.42284A>C (p.Asn14095Thr)
n.1605-1502T>G
c.46304A>C (p.Asn15435Thr)
c.20198A>C (p.Asn6733Thr)
c.20057A>C (p.Asn6686Thr)
c.46100A>C (p.Asn15367Thr)
c.41498A>C (p.Asn13833Thr)
c.41495A>C (p.Asn13832Thr)
c.38537A>C (p.Asn12846Thr)
c.20153A>C (p.Asn6718Thr)
c.41648A>C (p.Asn13883Thr)
c.41645A>C (p.Asn13882Thr)
c.41078A>C (p.Asn13693Thr)
c.38420A>C (p.Asn12807Thr)
c.38339A>C (p.Asn12780Thr)
c.20102A>C (p.Asn6701Thr)
c.9956A>C (p.Asn3319Thr)
2g.178618251T=CA1310550978TTN,TTN-AS1c.39503A= (p.Asn13168=)
c.20588A= (p.Asn6863=)
c.20387A= (p.Asn6796=)
c.20012A= (p.Asn6671=)
c.47207A= (p.Asn15736=)
c.42284A= (p.Asn14095=)
n.1605-1502T=
c.46304A= (p.Asn15435=)
c.20198A= (p.Asn6733=)
c.20057A= (p.Asn6686=)
c.46100A= (p.Asn15367=)
c.41498A= (p.Asn13833=)
c.41495A= (p.Asn13832=)
c.38537A= (p.Asn12846=)
c.20153A= (p.Asn6718=)
c.41648A= (p.Asn13883=)
c.41645A= (p.Asn13882=)
c.41078A= (p.Asn13693=)
c.38420A= (p.Asn12807=)
c.38339A= (p.Asn12780=)
c.20102A= (p.Asn6701=)
c.9956A= (p.Asn3319=)
2g.178618252T>ACA349619112TTN,TTN-AS1c.39502A>T (p.Asn13168Tyr)
c.20587A>T (p.Asn6863Tyr)
c.20386A>T (p.Asn6796Tyr)
c.20011A>T (p.Asn6671Tyr)
c.47206A>T (p.Asn15736Tyr)
c.42283A>T (p.Asn14095Tyr)
n.1605-1501T>A
c.46303A>T (p.Asn15435Tyr)
c.20197A>T (p.Asn6733Tyr)
c.20056A>T (p.Asn6686Tyr)
c.46099A>T (p.Asn15367Tyr)
c.41497A>T (p.Asn13833Tyr)
c.41494A>T (p.Asn13832Tyr)
c.38536A>T (p.Asn12846Tyr)
c.20152A>T (p.Asn6718Tyr)
c.41647A>T (p.Asn13883Tyr)
c.41644A>T (p.Asn13882Tyr)
c.41077A>T (p.Asn13693Tyr)
c.38419A>T (p.Asn12807Tyr)
c.38338A>T (p.Asn12780Tyr)
c.20101A>T (p.Asn6701Tyr)
c.9955A>T (p.Asn3319Tyr)
2g.178618252T>CCA349619130TTN,TTN-AS1c.39502A>G (p.Asn13168Asp)
c.20587A>G (p.Asn6863Asp)
c.20386A>G (p.Asn6796Asp)
c.20011A>G (p.Asn6671Asp)
c.47206A>G (p.Asn15736Asp)
c.42283A>G (p.Asn14095Asp)
n.1605-1501T>C
c.46303A>G (p.Asn15435Asp)
c.20197A>G (p.Asn6733Asp)
c.20056A>G (p.Asn6686Asp)
c.46099A>G (p.Asn15367Asp)
c.41497A>G (p.Asn13833Asp)
c.41494A>G (p.Asn13832Asp)
c.38536A>G (p.Asn12846Asp)
c.20152A>G (p.Asn6718Asp)
c.41647A>G (p.Asn13883Asp)
c.41644A>G (p.Asn13882Asp)
c.41077A>G (p.Asn13693Asp)
c.38419A>G (p.Asn12807Asp)
c.38338A>G (p.Asn12780Asp)
c.20101A>G (p.Asn6701Asp)
c.9955A>G (p.Asn3319Asp)
2g.178618252T>GCA349619134TTN,TTN-AS1c.39502A>C (p.Asn13168His)
c.20587A>C (p.Asn6863His)
c.20386A>C (p.Asn6796His)
c.20011A>C (p.Asn6671His)
c.47206A>C (p.Asn15736His)
c.42283A>C (p.Asn14095His)
n.1605-1501T>G
c.46303A>C (p.Asn15435His)
c.20197A>C (p.Asn6733His)
c.20056A>C (p.Asn6686His)
c.46099A>C (p.Asn15367His)
c.41497A>C (p.Asn13833His)
c.41494A>C (p.Asn13832His)
c.38536A>C (p.Asn12846His)
c.20152A>C (p.Asn6718His)
c.41647A>C (p.Asn13883His)
c.41644A>C (p.Asn13882His)
c.41077A>C (p.Asn13693His)
c.38419A>C (p.Asn12807His)
c.38338A>C (p.Asn12780His)
c.20101A>C (p.Asn6701His)
c.9955A>C (p.Asn3319His)
2g.178618253T>ACA349619136TTN,TTN-AS1c.39501A>T (p.Arg13167Ser)
c.20586A>T (p.Arg6862Ser)
c.20385A>T (p.Arg6795Ser)
c.20010A>T (p.Arg6670Ser)
c.47205A>T (p.Arg15735Ser)
c.42282A>T (p.Arg14094Ser)
n.1605-1500T>A
c.46302A>T (p.Arg15434Ser)
c.20196A>T (p.Arg6732Ser)
c.20055A>T (p.Arg6685Ser)
c.46098A>T (p.Arg15366Ser)
c.41496A>T (p.Arg13832Ser)
c.41493A>T (p.Arg13831Ser)
c.38535A>T (p.Arg12845Ser)
c.20151A>T (p.Arg6717Ser)
c.41646A>T (p.Arg13882Ser)
c.41643A>T (p.Arg13881Ser)
c.41076A>T (p.Arg13692Ser)
c.38418A>T (p.Arg12806Ser)
c.38337A>T (p.Arg12779Ser)
c.20100A>T (p.Arg6700Ser)
c.9954A>T (p.Arg3318Ser)
2g.178618253T>CCA430274475TTN,TTN-AS1c.39501A>G (p.Arg13167=)
c.20586A>G (p.Arg6862=)
c.20385A>G (p.Arg6795=)
c.20010A>G (p.Arg6670=)
c.47205A>G (p.Arg15735=)
c.42282A>G (p.Arg14094=)
n.1605-1500T>C
c.46302A>G (p.Arg15434=)
c.20196A>G (p.Arg6732=)
c.20055A>G (p.Arg6685=)
c.46098A>G (p.Arg15366=)
c.41496A>G (p.Arg13832=)
c.41493A>G (p.Arg13831=)
c.38535A>G (p.Arg12845=)
c.20151A>G (p.Arg6717=)
c.41646A>G (p.Arg13882=)
c.41643A>G (p.Arg13881=)
c.41076A>G (p.Arg13692=)
c.38418A>G (p.Arg12806=)
c.38337A>G (p.Arg12779=)
c.20100A>G (p.Arg6700=)
c.9954A>G (p.Arg3318=)
2g.178618253T>GCA349619137TTN,TTN-AS1c.39501A>C (p.Arg13167Ser)
c.20586A>C (p.Arg6862Ser)
c.20385A>C (p.Arg6795Ser)
c.20010A>C (p.Arg6670Ser)
c.47205A>C (p.Arg15735Ser)
c.42282A>C (p.Arg14094Ser)
n.1605-1500T>G
c.46302A>C (p.Arg15434Ser)
c.20196A>C (p.Arg6732Ser)
c.20055A>C (p.Arg6685Ser)
c.46098A>C (p.Arg15366Ser)
c.41496A>C (p.Arg13832Ser)
c.41493A>C (p.Arg13831Ser)
c.38535A>C (p.Arg12845Ser)
c.20151A>C (p.Arg6717Ser)
c.41646A>C (p.Arg13882Ser)
c.41643A>C (p.Arg13881Ser)
c.41076A>C (p.Arg13692Ser)
c.38418A>C (p.Arg12806Ser)
c.38337A>C (p.Arg12779Ser)
c.20100A>C (p.Arg6700Ser)
c.9954A>C (p.Arg3318Ser)
2g.178618254C>ACA349619140TTN,TTN-AS1c.39500G>T (p.Arg13167Ile)
c.20585G>T (p.Arg6862Ile)
c.20384G>T (p.Arg6795Ile)
c.20009G>T (p.Arg6670Ile)
c.47204G>T (p.Arg15735Ile)
c.42281G>T (p.Arg14094Ile)
n.1605-1499C>A
c.46301G>T (p.Arg15434Ile)
c.20195G>T (p.Arg6732Ile)
c.20054G>T (p.Arg6685Ile)
c.46097G>T (p.Arg15366Ile)
c.41495G>T (p.Arg13832Ile)
c.41492G>T (p.Arg13831Ile)
c.38534G>T (p.Arg12845Ile)
c.20150G>T (p.Arg6717Ile)
c.41645G>T (p.Arg13882Ile)
c.41642G>T (p.Arg13881Ile)
c.41075G>T (p.Arg13692Ile)
c.38417G>T (p.Arg12806Ile)
c.38336G>T (p.Arg12779Ile)
c.20099G>T (p.Arg6700Ile)
c.9953G>T (p.Arg3318Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178618254C>GCA349619142TTN,TTN-AS1c.39500G>C (p.Arg13167Thr)
c.20585G>C (p.Arg6862Thr)
c.20384G>C (p.Arg6795Thr)
c.20009G>C (p.Arg6670Thr)
c.47204G>C (p.Arg15735Thr)
c.42281G>C (p.Arg14094Thr)
n.1605-1499C>G
c.46301G>C (p.Arg15434Thr)
c.20195G>C (p.Arg6732Thr)
c.20054G>C (p.Arg6685Thr)
c.46097G>C (p.Arg15366Thr)
c.41495G>C (p.Arg13832Thr)
c.41492G>C (p.Arg13831Thr)
c.38534G>C (p.Arg12845Thr)
c.20150G>C (p.Arg6717Thr)
c.41645G>C (p.Arg13882Thr)
c.41642G>C (p.Arg13881Thr)
c.41075G>C (p.Arg13692Thr)
c.38417G>C (p.Arg12806Thr)
c.38336G>C (p.Arg12779Thr)
c.20099G>C (p.Arg6700Thr)
c.9953G>C (p.Arg3318Thr)
2g.178618254C>TCA349619143TTN,TTN-AS1c.39500G>A (p.Arg13167Lys)
c.20585G>A (p.Arg6862Lys)
c.20384G>A (p.Arg6795Lys)
c.20009G>A (p.Arg6670Lys)
c.47204G>A (p.Arg15735Lys)
c.42281G>A (p.Arg14094Lys)
n.1605-1499C>T
c.46301G>A (p.Arg15434Lys)
c.20195G>A (p.Arg6732Lys)
c.20054G>A (p.Arg6685Lys)
c.46097G>A (p.Arg15366Lys)
c.41495G>A (p.Arg13832Lys)
c.41492G>A (p.Arg13831Lys)
c.38534G>A (p.Arg12845Lys)
c.20150G>A (p.Arg6717Lys)
c.41645G>A (p.Arg13882Lys)
c.41642G>A (p.Arg13881Lys)
c.41075G>A (p.Arg13692Lys)
c.38417G>A (p.Arg12806Lys)
c.38336G>A (p.Arg12779Lys)
c.20099G>A (p.Arg6700Lys)
c.9953G>A (p.Arg3318Lys)

Number of alleles fetched