Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614657G>ACA349607699TTN,TTN-AS1c.41153C>T (p.Pro13718Leu)
c.22238C>T (p.Pro7413Leu)
c.22037C>T (p.Pro7346Leu)
c.21662C>T (p.Pro7221Leu)
c.48857C>T (p.Pro16286Leu)
c.43934C>T (p.Pro14645Leu)
n.1405G>A
c.47954C>T (p.Pro15985Leu)
c.21848C>T (p.Pro7283Leu)
c.21707C>T (p.Pro7236Leu)
c.47750C>T (p.Pro15917Leu)
c.43148C>T (p.Pro14383Leu)
c.43145C>T (p.Pro14382Leu)
c.40187C>T (p.Pro13396Leu)
c.21803C>T (p.Pro7268Leu)
c.43298C>T (p.Pro14433Leu)
c.43295C>T (p.Pro14432Leu)
c.42728C>T (p.Pro14243Leu)
c.40070C>T (p.Pro13357Leu)
c.39989C>T (p.Pro13330Leu)
c.21752C>T (p.Pro7251Leu)
c.11606C>T (p.Pro3869Leu)
2g.178614657G>CCA349607701TTN,TTN-AS1c.41153C>G (p.Pro13718Arg)
c.22238C>G (p.Pro7413Arg)
c.22037C>G (p.Pro7346Arg)
c.21662C>G (p.Pro7221Arg)
c.48857C>G (p.Pro16286Arg)
c.43934C>G (p.Pro14645Arg)
n.1405G>C
c.47954C>G (p.Pro15985Arg)
c.21848C>G (p.Pro7283Arg)
c.21707C>G (p.Pro7236Arg)
c.47750C>G (p.Pro15917Arg)
c.43148C>G (p.Pro14383Arg)
c.43145C>G (p.Pro14382Arg)
c.40187C>G (p.Pro13396Arg)
c.21803C>G (p.Pro7268Arg)
c.43298C>G (p.Pro14433Arg)
c.43295C>G (p.Pro14432Arg)
c.42728C>G (p.Pro14243Arg)
c.40070C>G (p.Pro13357Arg)
c.39989C>G (p.Pro13330Arg)
c.21752C>G (p.Pro7251Arg)
c.11606C>G (p.Pro3869Arg)
2g.178614657G>TCA349607703TTN,TTN-AS1c.41153C>A (p.Pro13718His)
c.22238C>A (p.Pro7413His)
c.22037C>A (p.Pro7346His)
c.21662C>A (p.Pro7221His)
c.48857C>A (p.Pro16286His)
c.43934C>A (p.Pro14645His)
n.1405G>T
c.47954C>A (p.Pro15985His)
c.21848C>A (p.Pro7283His)
c.21707C>A (p.Pro7236His)
c.47750C>A (p.Pro15917His)
c.43148C>A (p.Pro14383His)
c.43145C>A (p.Pro14382His)
c.40187C>A (p.Pro13396His)
c.21803C>A (p.Pro7268His)
c.43298C>A (p.Pro14433His)
c.43295C>A (p.Pro14432His)
c.42728C>A (p.Pro14243His)
c.40070C>A (p.Pro13357His)
c.39989C>A (p.Pro13330His)
c.21752C>A (p.Pro7251His)
c.11606C>A (p.Pro3869His)
2g.178614658G>ACA349607706TTN,TTN-AS1c.41152C>T (p.Pro13718Ser)
c.22237C>T (p.Pro7413Ser)
c.22036C>T (p.Pro7346Ser)
c.21661C>T (p.Pro7221Ser)
c.48856C>T (p.Pro16286Ser)
c.43933C>T (p.Pro14645Ser)
n.1406G>A
c.47953C>T (p.Pro15985Ser)
c.21847C>T (p.Pro7283Ser)
c.21706C>T (p.Pro7236Ser)
c.47749C>T (p.Pro15917Ser)
c.43147C>T (p.Pro14383Ser)
c.43144C>T (p.Pro14382Ser)
c.40186C>T (p.Pro13396Ser)
c.21802C>T (p.Pro7268Ser)
c.43297C>T (p.Pro14433Ser)
c.43294C>T (p.Pro14432Ser)
c.42727C>T (p.Pro14243Ser)
c.40069C>T (p.Pro13357Ser)
c.39988C>T (p.Pro13330Ser)
c.21751C>T (p.Pro7251Ser)
c.11605C>T (p.Pro3869Ser)
2g.178614658G>CCA349607708TTN,TTN-AS1c.41152C>G (p.Pro13718Ala)
c.22237C>G (p.Pro7413Ala)
c.22036C>G (p.Pro7346Ala)
c.21661C>G (p.Pro7221Ala)
c.48856C>G (p.Pro16286Ala)
c.43933C>G (p.Pro14645Ala)
n.1406G>C
c.47953C>G (p.Pro15985Ala)
c.21847C>G (p.Pro7283Ala)
c.21706C>G (p.Pro7236Ala)
c.47749C>G (p.Pro15917Ala)
c.43147C>G (p.Pro14383Ala)
c.43144C>G (p.Pro14382Ala)
c.40186C>G (p.Pro13396Ala)
c.21802C>G (p.Pro7268Ala)
c.43297C>G (p.Pro14433Ala)
c.43294C>G (p.Pro14432Ala)
c.42727C>G (p.Pro14243Ala)
c.40069C>G (p.Pro13357Ala)
c.39988C>G (p.Pro13330Ala)
c.21751C>G (p.Pro7251Ala)
c.11605C>G (p.Pro3869Ala)
2g.178614658G=CA1310549458TTN,TTN-AS1c.41152C= (p.Pro13718=)
c.22237C= (p.Pro7413=)
c.22036C= (p.Pro7346=)
c.21661C= (p.Pro7221=)
c.48856C= (p.Pro16286=)
c.43933C= (p.Pro14645=)
n.1406G=
c.47953C= (p.Pro15985=)
c.21847C= (p.Pro7283=)
c.21706C= (p.Pro7236=)
c.47749C= (p.Pro15917=)
c.43147C= (p.Pro14383=)
c.43144C= (p.Pro14382=)
c.40186C= (p.Pro13396=)
c.21802C= (p.Pro7268=)
c.43297C= (p.Pro14433=)
c.43294C= (p.Pro14432=)
c.42727C= (p.Pro14243=)
c.40069C= (p.Pro13357=)
c.39988C= (p.Pro13330=)
c.21751C= (p.Pro7251=)
c.11605C= (p.Pro3869=)
2g.178614658G>TCA60987701TTN,TTN-AS1c.41152C>A (p.Pro13718Thr)
c.22237C>A (p.Pro7413Thr)
c.22036C>A (p.Pro7346Thr)
c.21661C>A (p.Pro7221Thr)
c.48856C>A (p.Pro16286Thr)
c.43933C>A (p.Pro14645Thr)
n.1406G>T
c.47953C>A (p.Pro15985Thr)
c.21847C>A (p.Pro7283Thr)
c.21706C>A (p.Pro7236Thr)
c.47749C>A (p.Pro15917Thr)
c.43147C>A (p.Pro14383Thr)
c.43144C>A (p.Pro14382Thr)
c.40186C>A (p.Pro13396Thr)
c.21802C>A (p.Pro7268Thr)
c.43297C>A (p.Pro14433Thr)
c.43294C>A (p.Pro14432Thr)
c.42727C>A (p.Pro14243Thr)
c.40069C>A (p.Pro13357Thr)
c.39988C>A (p.Pro13330Thr)
c.21751C>A (p.Pro7251Thr)
c.11605C>A (p.Pro3869Thr)
 dbSNP gnomAD v4
2g.178614659T>ACA349607713TTN,TTN-AS1c.41151A>T (p.Lys13717Asn)
c.22236A>T (p.Lys7412Asn)
c.22035A>T (p.Lys7345Asn)
c.21660A>T (p.Lys7220Asn)
c.48855A>T (p.Lys16285Asn)
c.43932A>T (p.Lys14644Asn)
n.1407T>A
c.47952A>T (p.Lys15984Asn)
c.21846A>T (p.Lys7282Asn)
c.21705A>T (p.Lys7235Asn)
c.47748A>T (p.Lys15916Asn)
c.43146A>T (p.Lys14382Asn)
c.43143A>T (p.Lys14381Asn)
c.40185A>T (p.Lys13395Asn)
c.21801A>T (p.Lys7267Asn)
c.43296A>T (p.Lys14432Asn)
c.43293A>T (p.Lys14431Asn)
c.42726A>T (p.Lys14242Asn)
c.40068A>T (p.Lys13356Asn)
c.39987A>T (p.Lys13329Asn)
c.21750A>T (p.Lys7250Asn)
c.11604A>T (p.Lys3868Asn)
2g.178614659T>CCA430103947TTN,TTN-AS1c.41151A>G (p.Lys13717=)
c.22236A>G (p.Lys7412=)
c.22035A>G (p.Lys7345=)
c.21660A>G (p.Lys7220=)
c.48855A>G (p.Lys16285=)
c.43932A>G (p.Lys14644=)
n.1407T>C
c.47952A>G (p.Lys15984=)
c.21846A>G (p.Lys7282=)
c.21705A>G (p.Lys7235=)
c.47748A>G (p.Lys15916=)
c.43146A>G (p.Lys14382=)
c.43143A>G (p.Lys14381=)
c.40185A>G (p.Lys13395=)
c.21801A>G (p.Lys7267=)
c.43296A>G (p.Lys14432=)
c.43293A>G (p.Lys14431=)
c.42726A>G (p.Lys14242=)
c.40068A>G (p.Lys13356=)
c.39987A>G (p.Lys13329=)
c.21750A>G (p.Lys7250=)
c.11604A>G (p.Lys3868=)
2g.178614659T>GCA349607711TTN,TTN-AS1c.41151A>C (p.Lys13717Asn)
c.22236A>C (p.Lys7412Asn)
c.22035A>C (p.Lys7345Asn)
c.21660A>C (p.Lys7220Asn)
c.48855A>C (p.Lys16285Asn)
c.43932A>C (p.Lys14644Asn)
n.1407T>G
c.47952A>C (p.Lys15984Asn)
c.21846A>C (p.Lys7282Asn)
c.21705A>C (p.Lys7235Asn)
c.47748A>C (p.Lys15916Asn)
c.43146A>C (p.Lys14382Asn)
c.43143A>C (p.Lys14381Asn)
c.40185A>C (p.Lys13395Asn)
c.21801A>C (p.Lys7267Asn)
c.43296A>C (p.Lys14432Asn)
c.43293A>C (p.Lys14431Asn)
c.42726A>C (p.Lys14242Asn)
c.40068A>C (p.Lys13356Asn)
c.39987A>C (p.Lys13329Asn)
c.21750A>C (p.Lys7250Asn)
c.11604A>C (p.Lys3868Asn)
2g.178614660T>ACA349607715TTN,TTN-AS1c.41150A>T (p.Lys13717Ile)
c.22235A>T (p.Lys7412Ile)
c.22034A>T (p.Lys7345Ile)
c.21659A>T (p.Lys7220Ile)
c.48854A>T (p.Lys16285Ile)
c.43931A>T (p.Lys14644Ile)
n.1408T>A
c.47951A>T (p.Lys15984Ile)
c.21845A>T (p.Lys7282Ile)
c.21704A>T (p.Lys7235Ile)
c.47747A>T (p.Lys15916Ile)
c.43145A>T (p.Lys14382Ile)
c.43142A>T (p.Lys14381Ile)
c.40184A>T (p.Lys13395Ile)
c.21800A>T (p.Lys7267Ile)
c.43295A>T (p.Lys14432Ile)
c.43292A>T (p.Lys14431Ile)
c.42725A>T (p.Lys14242Ile)
c.40067A>T (p.Lys13356Ile)
c.39986A>T (p.Lys13329Ile)
c.21749A>T (p.Lys7250Ile)
c.11603A>T (p.Lys3868Ile)
2g.178614660T>CCA349607717TTN,TTN-AS1c.41150A>G (p.Lys13717Arg)
c.22235A>G (p.Lys7412Arg)
c.22034A>G (p.Lys7345Arg)
c.21659A>G (p.Lys7220Arg)
c.48854A>G (p.Lys16285Arg)
c.43931A>G (p.Lys14644Arg)
n.1408T>C
c.47951A>G (p.Lys15984Arg)
c.21845A>G (p.Lys7282Arg)
c.21704A>G (p.Lys7235Arg)
c.47747A>G (p.Lys15916Arg)
c.43145A>G (p.Lys14382Arg)
c.43142A>G (p.Lys14381Arg)
c.40184A>G (p.Lys13395Arg)
c.21800A>G (p.Lys7267Arg)
c.43295A>G (p.Lys14432Arg)
c.43292A>G (p.Lys14431Arg)
c.42725A>G (p.Lys14242Arg)
c.40067A>G (p.Lys13356Arg)
c.39986A>G (p.Lys13329Arg)
c.21749A>G (p.Lys7250Arg)
c.11603A>G (p.Lys3868Arg)
2g.178614660T>GCA349607718TTN,TTN-AS1c.41150A>C (p.Lys13717Thr)
c.22235A>C (p.Lys7412Thr)
c.22034A>C (p.Lys7345Thr)
c.21659A>C (p.Lys7220Thr)
c.48854A>C (p.Lys16285Thr)
c.43931A>C (p.Lys14644Thr)
n.1408T>G
c.47951A>C (p.Lys15984Thr)
c.21845A>C (p.Lys7282Thr)
c.21704A>C (p.Lys7235Thr)
c.47747A>C (p.Lys15916Thr)
c.43145A>C (p.Lys14382Thr)
c.43142A>C (p.Lys14381Thr)
c.40184A>C (p.Lys13395Thr)
c.21800A>C (p.Lys7267Thr)
c.43295A>C (p.Lys14432Thr)
c.43292A>C (p.Lys14431Thr)
c.42725A>C (p.Lys14242Thr)
c.40067A>C (p.Lys13356Thr)
c.39986A>C (p.Lys13329Thr)
c.21749A>C (p.Lys7250Thr)
c.11603A>C (p.Lys3868Thr)
2g.178614660_178614669delCA2973049244TTN,TTN-AS1c.41141_41150del (p.Val13714AspfsTer6)
c.22226_22235del (p.Val7409AspfsTer6)
c.22025_22034del (p.Val7342AspfsTer6)
c.21650_21659del (p.Val7217AspfsTer6)
c.48845_48854del (p.Val16282AspfsTer6)
c.43922_43931del (p.Val14641AspfsTer6)
n.1408_1417del
c.47942_47951del (p.Val15981AspfsTer6)
c.21836_21845del (p.Val7279AspfsTer6)
c.21695_21704del (p.Val7232AspfsTer6)
c.47738_47747del (p.Val15913AspfsTer6)
c.43136_43145del (p.Val14379AspfsTer6)
c.43133_43142del (p.Val14378AspfsTer6)
c.40175_40184del (p.Val13392AspfsTer6)
c.21791_21800del (p.Val7264AspfsTer6)
c.43286_43295del (p.Val14429AspfsTer6)
c.43283_43292del (p.Val14428AspfsTer6)
c.42716_42725del (p.Val14239AspfsTer6)
c.40058_40067del (p.Val13353AspfsTer6)
c.39977_39986del (p.Val13326AspfsTer6)
c.21740_21749del (p.Val7247AspfsTer6)
c.11594_11603del (p.Val3865AspfsTer6)
2g.178614661T>ACA349607720TTN,TTN-AS1c.41149A>T (p.Lys13717Ter)
c.22234A>T (p.Lys7412Ter)
c.22033A>T (p.Lys7345Ter)
c.21658A>T (p.Lys7220Ter)
c.48853A>T (p.Lys16285Ter)
c.43930A>T (p.Lys14644Ter)
n.1409T>A
c.47950A>T (p.Lys15984Ter)
c.21844A>T (p.Lys7282Ter)
c.21703A>T (p.Lys7235Ter)
c.47746A>T (p.Lys15916Ter)
c.43144A>T (p.Lys14382Ter)
c.43141A>T (p.Lys14381Ter)
c.40183A>T (p.Lys13395Ter)
c.21799A>T (p.Lys7267Ter)
c.43294A>T (p.Lys14432Ter)
c.43291A>T (p.Lys14431Ter)
c.42724A>T (p.Lys14242Ter)
c.40066A>T (p.Lys13356Ter)
c.39985A>T (p.Lys13329Ter)
c.21748A>T (p.Lys7250Ter)
c.11602A>T (p.Lys3868Ter)
2g.178614661T>CCA349607723TTN,TTN-AS1c.41149A>G (p.Lys13717Glu)
c.22234A>G (p.Lys7412Glu)
c.22033A>G (p.Lys7345Glu)
c.21658A>G (p.Lys7220Glu)
c.48853A>G (p.Lys16285Glu)
c.43930A>G (p.Lys14644Glu)
n.1409T>C
c.47950A>G (p.Lys15984Glu)
c.21844A>G (p.Lys7282Glu)
c.21703A>G (p.Lys7235Glu)
c.47746A>G (p.Lys15916Glu)
c.43144A>G (p.Lys14382Glu)
c.43141A>G (p.Lys14381Glu)
c.40183A>G (p.Lys13395Glu)
c.21799A>G (p.Lys7267Glu)
c.43294A>G (p.Lys14432Glu)
c.43291A>G (p.Lys14431Glu)
c.42724A>G (p.Lys14242Glu)
c.40066A>G (p.Lys13356Glu)
c.39985A>G (p.Lys13329Glu)
c.21748A>G (p.Lys7250Glu)
c.11602A>G (p.Lys3868Glu)
2g.178614661T>GCA1994733TTN,TTN-AS1c.41149A>C (p.Lys13717Gln)
c.22234A>C (p.Lys7412Gln)
c.22033A>C (p.Lys7345Gln)
c.21658A>C (p.Lys7220Gln)
c.48853A>C (p.Lys16285Gln)
c.43930A>C (p.Lys14644Gln)
n.1409T>G
c.47950A>C (p.Lys15984Gln)
c.21844A>C (p.Lys7282Gln)
c.21703A>C (p.Lys7235Gln)
c.47746A>C (p.Lys15916Gln)
c.43144A>C (p.Lys14382Gln)
c.43141A>C (p.Lys14381Gln)
c.40183A>C (p.Lys13395Gln)
c.21799A>C (p.Lys7267Gln)
c.43294A>C (p.Lys14432Gln)
c.43291A>C (p.Lys14431Gln)
c.42724A>C (p.Lys14242Gln)
c.40066A>C (p.Lys13356Gln)
c.39985A>C (p.Lys13329Gln)
c.21748A>C (p.Lys7250Gln)
c.11602A>C (p.Lys3868Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178614661T=CA1310549459TTN,TTN-AS1c.41149A= (p.Lys13717=)
c.22234A= (p.Lys7412=)
c.22033A= (p.Lys7345=)
c.21658A= (p.Lys7220=)
c.48853A= (p.Lys16285=)
c.43930A= (p.Lys14644=)
n.1409T=
c.47950A= (p.Lys15984=)
c.21844A= (p.Lys7282=)
c.21703A= (p.Lys7235=)
c.47746A= (p.Lys15916=)
c.43144A= (p.Lys14382=)
c.43141A= (p.Lys14381=)
c.40183A= (p.Lys13395=)
c.21799A= (p.Lys7267=)
c.43294A= (p.Lys14432=)
c.43291A= (p.Lys14431=)
c.42724A= (p.Lys14242=)
c.40066A= (p.Lys13356=)
c.39985A= (p.Lys13329=)
c.21748A= (p.Lys7250=)
c.11602A= (p.Lys3868=)
2g.178614662T>ACA430103951TTN,TTN-AS1c.41148A>T (p.Gly13716=)
c.22233A>T (p.Gly7411=)
c.22032A>T (p.Gly7344=)
c.21657A>T (p.Gly7219=)
c.48852A>T (p.Gly16284=)
c.43929A>T (p.Gly14643=)
n.1410T>A
c.47949A>T (p.Gly15983=)
c.21843A>T (p.Gly7281=)
c.21702A>T (p.Gly7234=)
c.47745A>T (p.Gly15915=)
c.43143A>T (p.Gly14381=)
c.43140A>T (p.Gly14380=)
c.40182A>T (p.Gly13394=)
c.21798A>T (p.Gly7266=)
c.43293A>T (p.Gly14431=)
c.43290A>T (p.Gly14430=)
c.42723A>T (p.Gly14241=)
c.40065A>T (p.Gly13355=)
c.39984A>T (p.Gly13328=)
c.21747A>T (p.Gly7249=)
c.11601A>T (p.Gly3867=)
2g.178614662T>CCA430103955TTN,TTN-AS1c.41148A>G (p.Gly13716=)
c.22233A>G (p.Gly7411=)
c.22032A>G (p.Gly7344=)
c.21657A>G (p.Gly7219=)
c.48852A>G (p.Gly16284=)
c.43929A>G (p.Gly14643=)
n.1410T>C
c.47949A>G (p.Gly15983=)
c.21843A>G (p.Gly7281=)
c.21702A>G (p.Gly7234=)
c.47745A>G (p.Gly15915=)
c.43143A>G (p.Gly14381=)
c.43140A>G (p.Gly14380=)
c.40182A>G (p.Gly13394=)
c.21798A>G (p.Gly7266=)
c.43293A>G (p.Gly14431=)
c.43290A>G (p.Gly14430=)
c.42723A>G (p.Gly14241=)
c.40065A>G (p.Gly13355=)
c.39984A>G (p.Gly13328=)
c.21747A>G (p.Gly7249=)
c.11601A>G (p.Gly3867=)
2g.178614662T>GCA430103953TTN,TTN-AS1c.41148A>C (p.Gly13716=)
c.22233A>C (p.Gly7411=)
c.22032A>C (p.Gly7344=)
c.21657A>C (p.Gly7219=)
c.48852A>C (p.Gly16284=)
c.43929A>C (p.Gly14643=)
n.1410T>G
c.47949A>C (p.Gly15983=)
c.21843A>C (p.Gly7281=)
c.21702A>C (p.Gly7234=)
c.47745A>C (p.Gly15915=)
c.43143A>C (p.Gly14381=)
c.43140A>C (p.Gly14380=)
c.40182A>C (p.Gly13394=)
c.21798A>C (p.Gly7266=)
c.43293A>C (p.Gly14431=)
c.43290A>C (p.Gly14430=)
c.42723A>C (p.Gly14241=)
c.40065A>C (p.Gly13355=)
c.39984A>C (p.Gly13328=)
c.21747A>C (p.Gly7249=)
c.11601A>C (p.Gly3867=)
2g.178614663C>ACA349607728TTN,TTN-AS1c.41147G>T (p.Gly13716Val)
c.22232G>T (p.Gly7411Val)
c.22031G>T (p.Gly7344Val)
c.21656G>T (p.Gly7219Val)
c.48851G>T (p.Gly16284Val)
c.43928G>T (p.Gly14643Val)
n.1411C>A
c.47948G>T (p.Gly15983Val)
c.21842G>T (p.Gly7281Val)
c.21701G>T (p.Gly7234Val)
c.47744G>T (p.Gly15915Val)
c.43142G>T (p.Gly14381Val)
c.43139G>T (p.Gly14380Val)
c.40181G>T (p.Gly13394Val)
c.21797G>T (p.Gly7266Val)
c.43292G>T (p.Gly14431Val)
c.43289G>T (p.Gly14430Val)
c.42722G>T (p.Gly14241Val)
c.40064G>T (p.Gly13355Val)
c.39983G>T (p.Gly13328Val)
c.21746G>T (p.Gly7249Val)
c.11600G>T (p.Gly3867Val)
2g.178614663C=CA1310549460TTN,TTN-AS1c.41147G= (p.Gly13716=)
c.22232G= (p.Gly7411=)
c.22031G= (p.Gly7344=)
c.21656G= (p.Gly7219=)
c.48851G= (p.Gly16284=)
c.43928G= (p.Gly14643=)
n.1411C=
c.47948G= (p.Gly15983=)
c.21842G= (p.Gly7281=)
c.21701G= (p.Gly7234=)
c.47744G= (p.Gly15915=)
c.43142G= (p.Gly14381=)
c.43139G= (p.Gly14380=)
c.40181G= (p.Gly13394=)
c.21797G= (p.Gly7266=)
c.43292G= (p.Gly14431=)
c.43289G= (p.Gly14430=)
c.42722G= (p.Gly14241=)
c.40064G= (p.Gly13355=)
c.39983G= (p.Gly13328=)
c.21746G= (p.Gly7249=)
c.11600G= (p.Gly3867=)
2g.178614663C>GCA349607726TTN,TTN-AS1c.41147G>C (p.Gly13716Ala)
c.22232G>C (p.Gly7411Ala)
c.22031G>C (p.Gly7344Ala)
c.21656G>C (p.Gly7219Ala)
c.48851G>C (p.Gly16284Ala)
c.43928G>C (p.Gly14643Ala)
n.1411C>G
c.47948G>C (p.Gly15983Ala)
c.21842G>C (p.Gly7281Ala)
c.21701G>C (p.Gly7234Ala)
c.47744G>C (p.Gly15915Ala)
c.43142G>C (p.Gly14381Ala)
c.43139G>C (p.Gly14380Ala)
c.40181G>C (p.Gly13394Ala)
c.21797G>C (p.Gly7266Ala)
c.43292G>C (p.Gly14431Ala)
c.43289G>C (p.Gly14430Ala)
c.42722G>C (p.Gly14241Ala)
c.40064G>C (p.Gly13355Ala)
c.39983G>C (p.Gly13328Ala)
c.21746G>C (p.Gly7249Ala)
c.11600G>C (p.Gly3867Ala)
2g.178614663C>TCA309935TTN,TTN-AS1c.41147G>A (p.Gly13716Glu)
c.22232G>A (p.Gly7411Glu)
c.22031G>A (p.Gly7344Glu)
c.21656G>A (p.Gly7219Glu)
c.48851G>A (p.Gly16284Glu)
c.43928G>A (p.Gly14643Glu)
n.1411C>T
c.47948G>A (p.Gly15983Glu)
c.21842G>A (p.Gly7281Glu)
c.21701G>A (p.Gly7234Glu)
c.47744G>A (p.Gly15915Glu)
c.43142G>A (p.Gly14381Glu)
c.43139G>A (p.Gly14380Glu)
c.40181G>A (p.Gly13394Glu)
c.21797G>A (p.Gly7266Glu)
c.43292G>A (p.Gly14431Glu)
c.43289G>A (p.Gly14430Glu)
c.42722G>A (p.Gly14241Glu)
c.40064G>A (p.Gly13355Glu)
c.39983G>A (p.Gly13328Glu)
c.21746G>A (p.Gly7249Glu)
c.11600G>A (p.Gly3867Glu)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178614664C>ACA349607730TTN,TTN-AS1c.41146G>T (p.Gly13716Ter)
c.22231G>T (p.Gly7411Ter)
c.22030G>T (p.Gly7344Ter)
c.21655G>T (p.Gly7219Ter)
c.48850G>T (p.Gly16284Ter)
c.43927G>T (p.Gly14643Ter)
n.1412C>A
c.47947G>T (p.Gly15983Ter)
c.21841G>T (p.Gly7281Ter)
c.21700G>T (p.Gly7234Ter)
c.47743G>T (p.Gly15915Ter)
c.43141G>T (p.Gly14381Ter)
c.43138G>T (p.Gly14380Ter)
c.40180G>T (p.Gly13394Ter)
c.21796G>T (p.Gly7266Ter)
c.43291G>T (p.Gly14431Ter)
c.43288G>T (p.Gly14430Ter)
c.42721G>T (p.Gly14241Ter)
c.40063G>T (p.Gly13355Ter)
c.39982G>T (p.Gly13328Ter)
c.21745G>T (p.Gly7249Ter)
c.11599G>T (p.Gly3867Ter)
 gnomAD v4
2g.178614664C=CA1310549461TTN,TTN-AS1c.41146G= (p.Gly13716=)
c.22231G= (p.Gly7411=)
c.22030G= (p.Gly7344=)
c.21655G= (p.Gly7219=)
c.48850G= (p.Gly16284=)
c.43927G= (p.Gly14643=)
n.1412C=
c.47947G= (p.Gly15983=)
c.21841G= (p.Gly7281=)
c.21700G= (p.Gly7234=)
c.47743G= (p.Gly15915=)
c.43141G= (p.Gly14381=)
c.43138G= (p.Gly14380=)
c.40180G= (p.Gly13394=)
c.21796G= (p.Gly7266=)
c.43291G= (p.Gly14431=)
c.43288G= (p.Gly14430=)
c.42721G= (p.Gly14241=)
c.40063G= (p.Gly13355=)
c.39982G= (p.Gly13328=)
c.21745G= (p.Gly7249=)
c.11599G= (p.Gly3867=)
2g.178614664C>GCA349607731TTN,TTN-AS1c.41146G>C (p.Gly13716Arg)
c.22231G>C (p.Gly7411Arg)
c.22030G>C (p.Gly7344Arg)
c.21655G>C (p.Gly7219Arg)
c.48850G>C (p.Gly16284Arg)
c.43927G>C (p.Gly14643Arg)
n.1412C>G
c.47947G>C (p.Gly15983Arg)
c.21841G>C (p.Gly7281Arg)
c.21700G>C (p.Gly7234Arg)
c.47743G>C (p.Gly15915Arg)
c.43141G>C (p.Gly14381Arg)
c.43138G>C (p.Gly14380Arg)
c.40180G>C (p.Gly13394Arg)
c.21796G>C (p.Gly7266Arg)
c.43291G>C (p.Gly14431Arg)
c.43288G>C (p.Gly14430Arg)
c.42721G>C (p.Gly14241Arg)
c.40063G>C (p.Gly13355Arg)
c.39982G>C (p.Gly13328Arg)
c.21745G>C (p.Gly7249Arg)
c.11599G>C (p.Gly3867Arg)
2g.178614664C>TCA1994734TTN,TTN-AS1c.41146G>A (p.Gly13716Arg)
c.22231G>A (p.Gly7411Arg)
c.22030G>A (p.Gly7344Arg)
c.21655G>A (p.Gly7219Arg)
c.48850G>A (p.Gly16284Arg)
c.43927G>A (p.Gly14643Arg)
n.1412C>T
c.47947G>A (p.Gly15983Arg)
c.21841G>A (p.Gly7281Arg)
c.21700G>A (p.Gly7234Arg)
c.47743G>A (p.Gly15915Arg)
c.43141G>A (p.Gly14381Arg)
c.43138G>A (p.Gly14380Arg)
c.40180G>A (p.Gly13394Arg)
c.21796G>A (p.Gly7266Arg)
c.43291G>A (p.Gly14431Arg)
c.43288G>A (p.Gly14430Arg)
c.42721G>A (p.Gly14241Arg)
c.40063G>A (p.Gly13355Arg)
c.39982G>A (p.Gly13328Arg)
c.21745G>A (p.Gly7249Arg)
c.11599G>A (p.Gly3867Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178614665G>ACA1994735TTN,TTN-AS1c.41145C>T (p.Thr13715=)
c.22230C>T (p.Thr7410=)
c.22029C>T (p.Thr7343=)
c.21654C>T (p.Thr7218=)
c.48849C>T (p.Thr16283=)
c.43926C>T (p.Thr14642=)
n.1413G>A
c.47946C>T (p.Thr15982=)
c.21840C>T (p.Thr7280=)
c.21699C>T (p.Thr7233=)
c.47742C>T (p.Thr15914=)
c.43140C>T (p.Thr14380=)
c.43137C>T (p.Thr14379=)
c.40179C>T (p.Thr13393=)
c.21795C>T (p.Thr7265=)
c.43290C>T (p.Thr14430=)
c.43287C>T (p.Thr14429=)
c.42720C>T (p.Thr14240=)
c.40062C>T (p.Thr13354=)
c.39981C>T (p.Thr13327=)
c.21744C>T (p.Thr7248=)
c.11598C>T (p.Thr3866=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178614665G>CCA430103958TTN,TTN-AS1c.41145C>G (p.Thr13715=)
c.22230C>G (p.Thr7410=)
c.22029C>G (p.Thr7343=)
c.21654C>G (p.Thr7218=)
c.48849C>G (p.Thr16283=)
c.43926C>G (p.Thr14642=)
n.1413G>C
c.47946C>G (p.Thr15982=)
c.21840C>G (p.Thr7280=)
c.21699C>G (p.Thr7233=)
c.47742C>G (p.Thr15914=)
c.43140C>G (p.Thr14380=)
c.43137C>G (p.Thr14379=)
c.40179C>G (p.Thr13393=)
c.21795C>G (p.Thr7265=)
c.43290C>G (p.Thr14430=)
c.43287C>G (p.Thr14429=)
c.42720C>G (p.Thr14240=)
c.40062C>G (p.Thr13354=)
c.39981C>G (p.Thr13327=)
c.21744C>G (p.Thr7248=)
c.11598C>G (p.Thr3866=)
2g.178614665G=CA1310549462TTN,TTN-AS1c.41145C= (p.Thr13715=)
c.22230C= (p.Thr7410=)
c.22029C= (p.Thr7343=)
c.21654C= (p.Thr7218=)
c.48849C= (p.Thr16283=)
c.43926C= (p.Thr14642=)
n.1413G=
c.47946C= (p.Thr15982=)
c.21840C= (p.Thr7280=)
c.21699C= (p.Thr7233=)
c.47742C= (p.Thr15914=)
c.43140C= (p.Thr14380=)
c.43137C= (p.Thr14379=)
c.40179C= (p.Thr13393=)
c.21795C= (p.Thr7265=)
c.43290C= (p.Thr14430=)
c.43287C= (p.Thr14429=)
c.42720C= (p.Thr14240=)
c.40062C= (p.Thr13354=)
c.39981C= (p.Thr13327=)
c.21744C= (p.Thr7248=)
c.11598C= (p.Thr3866=)
2g.178614665G>TCA430103959TTN,TTN-AS1c.41145C>A (p.Thr13715=)
c.22230C>A (p.Thr7410=)
c.22029C>A (p.Thr7343=)
c.21654C>A (p.Thr7218=)
c.48849C>A (p.Thr16283=)
c.43926C>A (p.Thr14642=)
n.1413G>T
c.47946C>A (p.Thr15982=)
c.21840C>A (p.Thr7280=)
c.21699C>A (p.Thr7233=)
c.47742C>A (p.Thr15914=)
c.43140C>A (p.Thr14380=)
c.43137C>A (p.Thr14379=)
c.40179C>A (p.Thr13393=)
c.21795C>A (p.Thr7265=)
c.43290C>A (p.Thr14430=)
c.43287C>A (p.Thr14429=)
c.42720C>A (p.Thr14240=)
c.40062C>A (p.Thr13354=)
c.39981C>A (p.Thr13327=)
c.21744C>A (p.Thr7248=)
c.11598C>A (p.Thr3866=)
 ClinVar dbSNP gnomAD v2
2g.178614666G>ACA349607736TTN,TTN-AS1c.41144C>T (p.Thr13715Ile)
c.22229C>T (p.Thr7410Ile)
c.22028C>T (p.Thr7343Ile)
c.21653C>T (p.Thr7218Ile)
c.48848C>T (p.Thr16283Ile)
c.43925C>T (p.Thr14642Ile)
n.1414G>A
c.47945C>T (p.Thr15982Ile)
c.21839C>T (p.Thr7280Ile)
c.21698C>T (p.Thr7233Ile)
c.47741C>T (p.Thr15914Ile)
c.43139C>T (p.Thr14380Ile)
c.43136C>T (p.Thr14379Ile)
c.40178C>T (p.Thr13393Ile)
c.21794C>T (p.Thr7265Ile)
c.43289C>T (p.Thr14430Ile)
c.43286C>T (p.Thr14429Ile)
c.42719C>T (p.Thr14240Ile)
c.40061C>T (p.Thr13354Ile)
c.39980C>T (p.Thr13327Ile)
c.21743C>T (p.Thr7248Ile)
c.11597C>T (p.Thr3866Ile)
2g.178614666G>CCA349607737TTN,TTN-AS1c.41144C>G (p.Thr13715Ser)
c.22229C>G (p.Thr7410Ser)
c.22028C>G (p.Thr7343Ser)
c.21653C>G (p.Thr7218Ser)
c.48848C>G (p.Thr16283Ser)
c.43925C>G (p.Thr14642Ser)
n.1414G>C
c.47945C>G (p.Thr15982Ser)
c.21839C>G (p.Thr7280Ser)
c.21698C>G (p.Thr7233Ser)
c.47741C>G (p.Thr15914Ser)
c.43139C>G (p.Thr14380Ser)
c.43136C>G (p.Thr14379Ser)
c.40178C>G (p.Thr13393Ser)
c.21794C>G (p.Thr7265Ser)
c.43289C>G (p.Thr14430Ser)
c.43286C>G (p.Thr14429Ser)
c.42719C>G (p.Thr14240Ser)
c.40061C>G (p.Thr13354Ser)
c.39980C>G (p.Thr13327Ser)
c.21743C>G (p.Thr7248Ser)
c.11597C>G (p.Thr3866Ser)
2g.178614666G>TCA349607739TTN,TTN-AS1c.41144C>A (p.Thr13715Asn)
c.22229C>A (p.Thr7410Asn)
c.22028C>A (p.Thr7343Asn)
c.21653C>A (p.Thr7218Asn)
c.48848C>A (p.Thr16283Asn)
c.43925C>A (p.Thr14642Asn)
n.1414G>T
c.47945C>A (p.Thr15982Asn)
c.21839C>A (p.Thr7280Asn)
c.21698C>A (p.Thr7233Asn)
c.47741C>A (p.Thr15914Asn)
c.43139C>A (p.Thr14380Asn)
c.43136C>A (p.Thr14379Asn)
c.40178C>A (p.Thr13393Asn)
c.21794C>A (p.Thr7265Asn)
c.43289C>A (p.Thr14430Asn)
c.43286C>A (p.Thr14429Asn)
c.42719C>A (p.Thr14240Asn)
c.40061C>A (p.Thr13354Asn)
c.39980C>A (p.Thr13327Asn)
c.21743C>A (p.Thr7248Asn)
c.11597C>A (p.Thr3866Asn)
2g.178614667T>ACA349607742TTN,TTN-AS1c.41143A>T (p.Thr13715Ser)
c.22228A>T (p.Thr7410Ser)
c.22027A>T (p.Thr7343Ser)
c.21652A>T (p.Thr7218Ser)
c.48847A>T (p.Thr16283Ser)
c.43924A>T (p.Thr14642Ser)
n.1415T>A
c.47944A>T (p.Thr15982Ser)
c.21838A>T (p.Thr7280Ser)
c.21697A>T (p.Thr7233Ser)
c.47740A>T (p.Thr15914Ser)
c.43138A>T (p.Thr14380Ser)
c.43135A>T (p.Thr14379Ser)
c.40177A>T (p.Thr13393Ser)
c.21793A>T (p.Thr7265Ser)
c.43288A>T (p.Thr14430Ser)
c.43285A>T (p.Thr14429Ser)
c.42718A>T (p.Thr14240Ser)
c.40060A>T (p.Thr13354Ser)
c.39979A>T (p.Thr13327Ser)
c.21742A>T (p.Thr7248Ser)
c.11596A>T (p.Thr3866Ser)
2g.178614667T>CCA349607744TTN,TTN-AS1c.41143A>G (p.Thr13715Ala)
c.22228A>G (p.Thr7410Ala)
c.22027A>G (p.Thr7343Ala)
c.21652A>G (p.Thr7218Ala)
c.48847A>G (p.Thr16283Ala)
c.43924A>G (p.Thr14642Ala)
n.1415T>C
c.47944A>G (p.Thr15982Ala)
c.21838A>G (p.Thr7280Ala)
c.21697A>G (p.Thr7233Ala)
c.47740A>G (p.Thr15914Ala)
c.43138A>G (p.Thr14380Ala)
c.43135A>G (p.Thr14379Ala)
c.40177A>G (p.Thr13393Ala)
c.21793A>G (p.Thr7265Ala)
c.43288A>G (p.Thr14430Ala)
c.43285A>G (p.Thr14429Ala)
c.42718A>G (p.Thr14240Ala)
c.40060A>G (p.Thr13354Ala)
c.39979A>G (p.Thr13327Ala)
c.21742A>G (p.Thr7248Ala)
c.11596A>G (p.Thr3866Ala)
2g.178614667T>GCA349607746TTN,TTN-AS1c.41143A>C (p.Thr13715Pro)
c.22228A>C (p.Thr7410Pro)
c.22027A>C (p.Thr7343Pro)
c.21652A>C (p.Thr7218Pro)
c.48847A>C (p.Thr16283Pro)
c.43924A>C (p.Thr14642Pro)
n.1415T>G
c.47944A>C (p.Thr15982Pro)
c.21838A>C (p.Thr7280Pro)
c.21697A>C (p.Thr7233Pro)
c.47740A>C (p.Thr15914Pro)
c.43138A>C (p.Thr14380Pro)
c.43135A>C (p.Thr14379Pro)
c.40177A>C (p.Thr13393Pro)
c.21793A>C (p.Thr7265Pro)
c.43288A>C (p.Thr14430Pro)
c.43285A>C (p.Thr14429Pro)
c.42718A>C (p.Thr14240Pro)
c.40060A>C (p.Thr13354Pro)
c.39979A>C (p.Thr13327Pro)
c.21742A>C (p.Thr7248Pro)
c.11596A>C (p.Thr3866Pro)
2g.178614668T>ACA430103960TTN,TTN-AS1c.41142A>T (p.Val13714=)
c.22227A>T (p.Val7409=)
c.22026A>T (p.Val7342=)
c.21651A>T (p.Val7217=)
c.48846A>T (p.Val16282=)
c.43923A>T (p.Val14641=)
n.1416T>A
c.47943A>T (p.Val15981=)
c.21837A>T (p.Val7279=)
c.21696A>T (p.Val7232=)
c.47739A>T (p.Val15913=)
c.43137A>T (p.Val14379=)
c.43134A>T (p.Val14378=)
c.40176A>T (p.Val13392=)
c.21792A>T (p.Val7264=)
c.43287A>T (p.Val14429=)
c.43284A>T (p.Val14428=)
c.42717A>T (p.Val14239=)
c.40059A>T (p.Val13353=)
c.39978A>T (p.Val13326=)
c.21741A>T (p.Val7247=)
c.11595A>T (p.Val3865=)
2g.178614668T>CCA430103961TTN,TTN-AS1c.41142A>G (p.Val13714=)
c.22227A>G (p.Val7409=)
c.22026A>G (p.Val7342=)
c.21651A>G (p.Val7217=)
c.48846A>G (p.Val16282=)
c.43923A>G (p.Val14641=)
n.1416T>C
c.47943A>G (p.Val15981=)
c.21837A>G (p.Val7279=)
c.21696A>G (p.Val7232=)
c.47739A>G (p.Val15913=)
c.43137A>G (p.Val14379=)
c.43134A>G (p.Val14378=)
c.40176A>G (p.Val13392=)
c.21792A>G (p.Val7264=)
c.43287A>G (p.Val14429=)
c.43284A>G (p.Val14428=)
c.42717A>G (p.Val14239=)
c.40059A>G (p.Val13353=)
c.39978A>G (p.Val13326=)
c.21741A>G (p.Val7247=)
c.11595A>G (p.Val3865=)
2g.178614668T>GCA430103962TTN,TTN-AS1c.41142A>C (p.Val13714=)
c.22227A>C (p.Val7409=)
c.22026A>C (p.Val7342=)
c.21651A>C (p.Val7217=)
c.48846A>C (p.Val16282=)
c.43923A>C (p.Val14641=)
n.1416T>G
c.47943A>C (p.Val15981=)
c.21837A>C (p.Val7279=)
c.21696A>C (p.Val7232=)
c.47739A>C (p.Val15913=)
c.43137A>C (p.Val14379=)
c.43134A>C (p.Val14378=)
c.40176A>C (p.Val13392=)
c.21792A>C (p.Val7264=)
c.43287A>C (p.Val14429=)
c.43284A>C (p.Val14428=)
c.42717A>C (p.Val14239=)
c.40059A>C (p.Val13353=)
c.39978A>C (p.Val13326=)
c.21741A>C (p.Val7247=)
c.11595A>C (p.Val3865=)
 gnomAD v4
2g.178614669A=CA1310549463TTN,TTN-AS1c.41141T= (p.Val13714=)
c.22226T= (p.Val7409=)
c.22025T= (p.Val7342=)
c.21650T= (p.Val7217=)
c.48845T= (p.Val16282=)
c.43922T= (p.Val14641=)
n.1417A=
c.47942T= (p.Val15981=)
c.21836T= (p.Val7279=)
c.21695T= (p.Val7232=)
c.47738T= (p.Val15913=)
c.43136T= (p.Val14379=)
c.43133T= (p.Val14378=)
c.40175T= (p.Val13392=)
c.21791T= (p.Val7264=)
c.43286T= (p.Val14429=)
c.43283T= (p.Val14428=)
c.42716T= (p.Val14239=)
c.40058T= (p.Val13353=)
c.39977T= (p.Val13326=)
c.21740T= (p.Val7247=)
c.11594T= (p.Val3865=)
2g.178614669A>CCA349607748TTN,TTN-AS1c.41141T>G (p.Val13714Gly)
c.22226T>G (p.Val7409Gly)
c.22025T>G (p.Val7342Gly)
c.21650T>G (p.Val7217Gly)
c.48845T>G (p.Val16282Gly)
c.43922T>G (p.Val14641Gly)
n.1417A>C
c.47942T>G (p.Val15981Gly)
c.21836T>G (p.Val7279Gly)
c.21695T>G (p.Val7232Gly)
c.47738T>G (p.Val15913Gly)
c.43136T>G (p.Val14379Gly)
c.43133T>G (p.Val14378Gly)
c.40175T>G (p.Val13392Gly)
c.21791T>G (p.Val7264Gly)
c.43286T>G (p.Val14429Gly)
c.43283T>G (p.Val14428Gly)
c.42716T>G (p.Val14239Gly)
c.40058T>G (p.Val13353Gly)
c.39977T>G (p.Val13326Gly)
c.21740T>G (p.Val7247Gly)
c.11594T>G (p.Val3865Gly)
2g.178614669A>GCA10575971TTN,TTN-AS1c.41141T>C (p.Val13714Ala)
c.22226T>C (p.Val7409Ala)
c.22025T>C (p.Val7342Ala)
c.21650T>C (p.Val7217Ala)
c.48845T>C (p.Val16282Ala)
c.43922T>C (p.Val14641Ala)
n.1417A>G
c.47942T>C (p.Val15981Ala)
c.21836T>C (p.Val7279Ala)
c.21695T>C (p.Val7232Ala)
c.47738T>C (p.Val15913Ala)
c.43136T>C (p.Val14379Ala)
c.43133T>C (p.Val14378Ala)
c.40175T>C (p.Val13392Ala)
c.21791T>C (p.Val7264Ala)
c.43286T>C (p.Val14429Ala)
c.43283T>C (p.Val14428Ala)
c.42716T>C (p.Val14239Ala)
c.40058T>C (p.Val13353Ala)
c.39977T>C (p.Val13326Ala)
c.21740T>C (p.Val7247Ala)
c.11594T>C (p.Val3865Ala)
 ClinVar dbSNP gnomAD v4
2g.178614669A>TCA349607751TTN,TTN-AS1c.41141T>A (p.Val13714Glu)
c.22226T>A (p.Val7409Glu)
c.22025T>A (p.Val7342Glu)
c.21650T>A (p.Val7217Glu)
c.48845T>A (p.Val16282Glu)
c.43922T>A (p.Val14641Glu)
n.1417A>T
c.47942T>A (p.Val15981Glu)
c.21836T>A (p.Val7279Glu)
c.21695T>A (p.Val7232Glu)
c.47738T>A (p.Val15913Glu)
c.43136T>A (p.Val14379Glu)
c.43133T>A (p.Val14378Glu)
c.40175T>A (p.Val13392Glu)
c.21791T>A (p.Val7264Glu)
c.43286T>A (p.Val14429Glu)
c.43283T>A (p.Val14428Glu)
c.42716T>A (p.Val14239Glu)
c.40058T>A (p.Val13353Glu)
c.39977T>A (p.Val13326Glu)
c.21740T>A (p.Val7247Glu)
c.11594T>A (p.Val3865Glu)
 dbSNP
2g.178614670C>ACA349607754TTN,TTN-AS1c.41140G>T (p.Val13714Leu)
c.22225G>T (p.Val7409Leu)
c.22024G>T (p.Val7342Leu)
c.21649G>T (p.Val7217Leu)
c.48844G>T (p.Val16282Leu)
c.43921G>T (p.Val14641Leu)
n.1418C>A
c.47941G>T (p.Val15981Leu)
c.21835G>T (p.Val7279Leu)
c.21694G>T (p.Val7232Leu)
c.47737G>T (p.Val15913Leu)
c.43135G>T (p.Val14379Leu)
c.43132G>T (p.Val14378Leu)
c.40174G>T (p.Val13392Leu)
c.21790G>T (p.Val7264Leu)
c.43285G>T (p.Val14429Leu)
c.43282G>T (p.Val14428Leu)
c.42715G>T (p.Val14239Leu)
c.40057G>T (p.Val13353Leu)
c.39976G>T (p.Val13326Leu)
c.21739G>T (p.Val7247Leu)
c.11593G>T (p.Val3865Leu)
2g.178614670C=CA1310549464TTN,TTN-AS1c.41140G= (p.Val13714=)
c.22225G= (p.Val7409=)
c.22024G= (p.Val7342=)
c.21649G= (p.Val7217=)
c.48844G= (p.Val16282=)
c.43921G= (p.Val14641=)
n.1418C=
c.47941G= (p.Val15981=)
c.21835G= (p.Val7279=)
c.21694G= (p.Val7232=)
c.47737G= (p.Val15913=)
c.43135G= (p.Val14379=)
c.43132G= (p.Val14378=)
c.40174G= (p.Val13392=)
c.21790G= (p.Val7264=)
c.43285G= (p.Val14429=)
c.43282G= (p.Val14428=)
c.42715G= (p.Val14239=)
c.40057G= (p.Val13353=)
c.39976G= (p.Val13326=)
c.21739G= (p.Val7247=)
c.11593G= (p.Val3865=)
2g.178614670C>GCA349607756TTN,TTN-AS1c.41140G>C (p.Val13714Leu)
c.22225G>C (p.Val7409Leu)
c.22024G>C (p.Val7342Leu)
c.21649G>C (p.Val7217Leu)
c.48844G>C (p.Val16282Leu)
c.43921G>C (p.Val14641Leu)
n.1418C>G
c.47941G>C (p.Val15981Leu)
c.21835G>C (p.Val7279Leu)
c.21694G>C (p.Val7232Leu)
c.47737G>C (p.Val15913Leu)
c.43135G>C (p.Val14379Leu)
c.43132G>C (p.Val14378Leu)
c.40174G>C (p.Val13392Leu)
c.21790G>C (p.Val7264Leu)
c.43285G>C (p.Val14429Leu)
c.43282G>C (p.Val14428Leu)
c.42715G>C (p.Val14239Leu)
c.40057G>C (p.Val13353Leu)
c.39976G>C (p.Val13326Leu)
c.21739G>C (p.Val7247Leu)
c.11593G>C (p.Val3865Leu)
2g.178614670C>TCA1994736TTN,TTN-AS1c.41140G>A (p.Val13714Ile)
c.22225G>A (p.Val7409Ile)
c.22024G>A (p.Val7342Ile)
c.21649G>A (p.Val7217Ile)
c.48844G>A (p.Val16282Ile)
c.43921G>A (p.Val14641Ile)
n.1418C>T
c.47941G>A (p.Val15981Ile)
c.21835G>A (p.Val7279Ile)
c.21694G>A (p.Val7232Ile)
c.47737G>A (p.Val15913Ile)
c.43135G>A (p.Val14379Ile)
c.43132G>A (p.Val14378Ile)
c.40174G>A (p.Val13392Ile)
c.21790G>A (p.Val7264Ile)
c.43285G>A (p.Val14429Ile)
c.43282G>A (p.Val14428Ile)
c.42715G>A (p.Val14239Ile)
c.40057G>A (p.Val13353Ile)
c.39976G>A (p.Val13326Ile)
c.21739G>A (p.Val7247Ile)
c.11593G>A (p.Val3865Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched