Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178570451T>ACA349620970TTN,TTN-AS1c.67977A>T (p.Lys22659Asn)
c.49062A>T (p.Lys16354Asn)
c.48861A>T (p.Lys16287Asn)
c.48486A>T (p.Lys16162Asn)
c.75681A>T (p.Lys25227Asn)
c.70758A>T (p.Lys23586Asn)
n.447-849T>A
n.2044-12121T>A
c.74778A>T (p.Lys24926Asn)
c.48672A>T (p.Lys16224Asn)
c.48531A>T (p.Lys16177Asn)
c.74574A>T (p.Lys24858Asn)
c.69972A>T (p.Lys23324Asn)
c.69969A>T (p.Lys23323Asn)
c.67011A>T (p.Lys22337Asn)
c.48627A>T (p.Lys16209Asn)
c.70122A>T (p.Lys23374Asn)
c.70119A>T (p.Lys23373Asn)
c.69552A>T (p.Lys23184Asn)
c.66894A>T (p.Lys22298Asn)
c.66813A>T (p.Lys22271Asn)
c.48576A>T (p.Lys16192Asn)
c.38430A>T (p.Lys12810Asn)
2g.178570451T>CCA430254772TTN,TTN-AS1c.67977A>G (p.Lys22659=)
c.49062A>G (p.Lys16354=)
c.48861A>G (p.Lys16287=)
c.48486A>G (p.Lys16162=)
c.75681A>G (p.Lys25227=)
c.70758A>G (p.Lys23586=)
n.447-849T>C
n.2044-12121T>C
c.74778A>G (p.Lys24926=)
c.48672A>G (p.Lys16224=)
c.48531A>G (p.Lys16177=)
c.74574A>G (p.Lys24858=)
c.69972A>G (p.Lys23324=)
c.69969A>G (p.Lys23323=)
c.67011A>G (p.Lys22337=)
c.48627A>G (p.Lys16209=)
c.70122A>G (p.Lys23374=)
c.70119A>G (p.Lys23373=)
c.69552A>G (p.Lys23184=)
c.66894A>G (p.Lys22298=)
c.66813A>G (p.Lys22271=)
c.48576A>G (p.Lys16192=)
c.38430A>G (p.Lys12810=)
2g.178570451T>GCA349620973TTN,TTN-AS1c.67977A>C (p.Lys22659Asn)
c.49062A>C (p.Lys16354Asn)
c.48861A>C (p.Lys16287Asn)
c.48486A>C (p.Lys16162Asn)
c.75681A>C (p.Lys25227Asn)
c.70758A>C (p.Lys23586Asn)
n.447-849T>G
n.2044-12121T>G
c.74778A>C (p.Lys24926Asn)
c.48672A>C (p.Lys16224Asn)
c.48531A>C (p.Lys16177Asn)
c.74574A>C (p.Lys24858Asn)
c.69972A>C (p.Lys23324Asn)
c.69969A>C (p.Lys23323Asn)
c.67011A>C (p.Lys22337Asn)
c.48627A>C (p.Lys16209Asn)
c.70122A>C (p.Lys23374Asn)
c.70119A>C (p.Lys23373Asn)
c.69552A>C (p.Lys23184Asn)
c.66894A>C (p.Lys22298Asn)
c.66813A>C (p.Lys22271Asn)
c.48576A>C (p.Lys16192Asn)
c.38430A>C (p.Lys12810Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178570452T>ACA349620999TTN,TTN-AS1c.67976A>T (p.Lys22659Ile)
c.49061A>T (p.Lys16354Ile)
c.48860A>T (p.Lys16287Ile)
c.48485A>T (p.Lys16162Ile)
c.75680A>T (p.Lys25227Ile)
c.70757A>T (p.Lys23586Ile)
n.447-848T>A
n.2044-12120T>A
c.74777A>T (p.Lys24926Ile)
c.48671A>T (p.Lys16224Ile)
c.48530A>T (p.Lys16177Ile)
c.74573A>T (p.Lys24858Ile)
c.69971A>T (p.Lys23324Ile)
c.69968A>T (p.Lys23323Ile)
c.67010A>T (p.Lys22337Ile)
c.48626A>T (p.Lys16209Ile)
c.70121A>T (p.Lys23374Ile)
c.70118A>T (p.Lys23373Ile)
c.69551A>T (p.Lys23184Ile)
c.66893A>T (p.Lys22298Ile)
c.66812A>T (p.Lys22271Ile)
c.48575A>T (p.Lys16192Ile)
c.38429A>T (p.Lys12810Ile)
2g.178570452T>CCA349621001TTN,TTN-AS1c.67976A>G (p.Lys22659Arg)
c.49061A>G (p.Lys16354Arg)
c.48860A>G (p.Lys16287Arg)
c.48485A>G (p.Lys16162Arg)
c.75680A>G (p.Lys25227Arg)
c.70757A>G (p.Lys23586Arg)
n.447-848T>C
n.2044-12120T>C
c.74777A>G (p.Lys24926Arg)
c.48671A>G (p.Lys16224Arg)
c.48530A>G (p.Lys16177Arg)
c.74573A>G (p.Lys24858Arg)
c.69971A>G (p.Lys23324Arg)
c.69968A>G (p.Lys23323Arg)
c.67010A>G (p.Lys22337Arg)
c.48626A>G (p.Lys16209Arg)
c.70121A>G (p.Lys23374Arg)
c.70118A>G (p.Lys23373Arg)
c.69551A>G (p.Lys23184Arg)
c.66893A>G (p.Lys22298Arg)
c.66812A>G (p.Lys22271Arg)
c.48575A>G (p.Lys16192Arg)
c.38429A>G (p.Lys12810Arg)
2g.178570452T>GCA349620989TTN,TTN-AS1c.67976A>C (p.Lys22659Thr)
c.49061A>C (p.Lys16354Thr)
c.48860A>C (p.Lys16287Thr)
c.48485A>C (p.Lys16162Thr)
c.75680A>C (p.Lys25227Thr)
c.70757A>C (p.Lys23586Thr)
n.447-848T>G
n.2044-12120T>G
c.74777A>C (p.Lys24926Thr)
c.48671A>C (p.Lys16224Thr)
c.48530A>C (p.Lys16177Thr)
c.74573A>C (p.Lys24858Thr)
c.69971A>C (p.Lys23324Thr)
c.69968A>C (p.Lys23323Thr)
c.67010A>C (p.Lys22337Thr)
c.48626A>C (p.Lys16209Thr)
c.70121A>C (p.Lys23374Thr)
c.70118A>C (p.Lys23373Thr)
c.69551A>C (p.Lys23184Thr)
c.66893A>C (p.Lys22298Thr)
c.66812A>C (p.Lys22271Thr)
c.48575A>C (p.Lys16192Thr)
c.38429A>C (p.Lys12810Thr)
2g.178570453T>ACA349621008TTN,TTN-AS1c.67975A>T (p.Lys22659Ter)
c.49060A>T (p.Lys16354Ter)
c.48859A>T (p.Lys16287Ter)
c.48484A>T (p.Lys16162Ter)
c.75679A>T (p.Lys25227Ter)
c.70756A>T (p.Lys23586Ter)
n.447-847T>A
n.2044-12119T>A
c.74776A>T (p.Lys24926Ter)
c.48670A>T (p.Lys16224Ter)
c.48529A>T (p.Lys16177Ter)
c.74572A>T (p.Lys24858Ter)
c.69970A>T (p.Lys23324Ter)
c.69967A>T (p.Lys23323Ter)
c.67009A>T (p.Lys22337Ter)
c.48625A>T (p.Lys16209Ter)
c.70120A>T (p.Lys23374Ter)
c.70117A>T (p.Lys23373Ter)
c.69550A>T (p.Lys23184Ter)
c.66892A>T (p.Lys22298Ter)
c.66811A>T (p.Lys22271Ter)
c.48574A>T (p.Lys16192Ter)
c.38428A>T (p.Lys12810Ter)
2g.178570453T>CCA349621011TTN,TTN-AS1c.67975A>G (p.Lys22659Glu)
c.49060A>G (p.Lys16354Glu)
c.48859A>G (p.Lys16287Glu)
c.48484A>G (p.Lys16162Glu)
c.75679A>G (p.Lys25227Glu)
c.70756A>G (p.Lys23586Glu)
n.447-847T>C
n.2044-12119T>C
c.74776A>G (p.Lys24926Glu)
c.48670A>G (p.Lys16224Glu)
c.48529A>G (p.Lys16177Glu)
c.74572A>G (p.Lys24858Glu)
c.69970A>G (p.Lys23324Glu)
c.69967A>G (p.Lys23323Glu)
c.67009A>G (p.Lys22337Glu)
c.48625A>G (p.Lys16209Glu)
c.70120A>G (p.Lys23374Glu)
c.70117A>G (p.Lys23373Glu)
c.69550A>G (p.Lys23184Glu)
c.66892A>G (p.Lys22298Glu)
c.66811A>G (p.Lys22271Glu)
c.48574A>G (p.Lys16192Glu)
c.38428A>G (p.Lys12810Glu)
2g.178570453T>GCA349621014TTN,TTN-AS1c.67975A>C (p.Lys22659Gln)
c.49060A>C (p.Lys16354Gln)
c.48859A>C (p.Lys16287Gln)
c.48484A>C (p.Lys16162Gln)
c.75679A>C (p.Lys25227Gln)
c.70756A>C (p.Lys23586Gln)
n.447-847T>G
n.2044-12119T>G
c.74776A>C (p.Lys24926Gln)
c.48670A>C (p.Lys16224Gln)
c.48529A>C (p.Lys16177Gln)
c.74572A>C (p.Lys24858Gln)
c.69970A>C (p.Lys23324Gln)
c.69967A>C (p.Lys23323Gln)
c.67009A>C (p.Lys22337Gln)
c.48625A>C (p.Lys16209Gln)
c.70120A>C (p.Lys23374Gln)
c.70117A>C (p.Lys23373Gln)
c.69550A>C (p.Lys23184Gln)
c.66892A>C (p.Lys22298Gln)
c.66811A>C (p.Lys22271Gln)
c.48574A>C (p.Lys16192Gln)
c.38428A>C (p.Lys12810Gln)
2g.178570454C>ACA349621020TTN,TTN-AS1c.67974G>T (p.Trp22658Cys)
c.49059G>T (p.Trp16353Cys)
c.48858G>T (p.Trp16286Cys)
c.48483G>T (p.Trp16161Cys)
c.75678G>T (p.Trp25226Cys)
c.70755G>T (p.Trp23585Cys)
n.447-846C>A
n.2044-12118C>A
c.74775G>T (p.Trp24925Cys)
c.48669G>T (p.Trp16223Cys)
c.48528G>T (p.Trp16176Cys)
c.74571G>T (p.Trp24857Cys)
c.69969G>T (p.Trp23323Cys)
c.69966G>T (p.Trp23322Cys)
c.67008G>T (p.Trp22336Cys)
c.48624G>T (p.Trp16208Cys)
c.70119G>T (p.Trp23373Cys)
c.70116G>T (p.Trp23372Cys)
c.69549G>T (p.Trp23183Cys)
c.66891G>T (p.Trp22297Cys)
c.66810G>T (p.Trp22270Cys)
c.48573G>T (p.Trp16191Cys)
c.38427G>T (p.Trp12809Cys)
2g.178570454C>GCA349621024TTN,TTN-AS1c.67974G>C (p.Trp22658Cys)
c.49059G>C (p.Trp16353Cys)
c.48858G>C (p.Trp16286Cys)
c.48483G>C (p.Trp16161Cys)
c.75678G>C (p.Trp25226Cys)
c.70755G>C (p.Trp23585Cys)
n.447-846C>G
n.2044-12118C>G
c.74775G>C (p.Trp24925Cys)
c.48669G>C (p.Trp16223Cys)
c.48528G>C (p.Trp16176Cys)
c.74571G>C (p.Trp24857Cys)
c.69969G>C (p.Trp23323Cys)
c.69966G>C (p.Trp23322Cys)
c.67008G>C (p.Trp22336Cys)
c.48624G>C (p.Trp16208Cys)
c.70119G>C (p.Trp23373Cys)
c.70116G>C (p.Trp23372Cys)
c.69549G>C (p.Trp23183Cys)
c.66891G>C (p.Trp22297Cys)
c.66810G>C (p.Trp22270Cys)
c.48573G>C (p.Trp16191Cys)
c.38427G>C (p.Trp12809Cys)
2g.178570454C>TCA349621028TTN,TTN-AS1c.67974G>A (p.Trp22658Ter)
c.49059G>A (p.Trp16353Ter)
c.48858G>A (p.Trp16286Ter)
c.48483G>A (p.Trp16161Ter)
c.75678G>A (p.Trp25226Ter)
c.70755G>A (p.Trp23585Ter)
n.447-846C>T
n.2044-12118C>T
c.74775G>A (p.Trp24925Ter)
c.48669G>A (p.Trp16223Ter)
c.48528G>A (p.Trp16176Ter)
c.74571G>A (p.Trp24857Ter)
c.69969G>A (p.Trp23323Ter)
c.69966G>A (p.Trp23322Ter)
c.67008G>A (p.Trp22336Ter)
c.48624G>A (p.Trp16208Ter)
c.70119G>A (p.Trp23373Ter)
c.70116G>A (p.Trp23372Ter)
c.69549G>A (p.Trp23183Ter)
c.66891G>A (p.Trp22297Ter)
c.66810G>A (p.Trp22270Ter)
c.48573G>A (p.Trp16191Ter)
c.38427G>A (p.Trp12809Ter)
2g.178570455C>ACA349621031TTN,TTN-AS1c.67973G>T (p.Trp22658Leu)
c.49058G>T (p.Trp16353Leu)
c.48857G>T (p.Trp16286Leu)
c.48482G>T (p.Trp16161Leu)
c.75677G>T (p.Trp25226Leu)
c.70754G>T (p.Trp23585Leu)
n.447-845C>A
n.2044-12117C>A
c.74774G>T (p.Trp24925Leu)
c.48668G>T (p.Trp16223Leu)
c.48527G>T (p.Trp16176Leu)
c.74570G>T (p.Trp24857Leu)
c.69968G>T (p.Trp23323Leu)
c.69965G>T (p.Trp23322Leu)
c.67007G>T (p.Trp22336Leu)
c.48623G>T (p.Trp16208Leu)
c.70118G>T (p.Trp23373Leu)
c.70115G>T (p.Trp23372Leu)
c.69548G>T (p.Trp23183Leu)
c.66890G>T (p.Trp22297Leu)
c.66809G>T (p.Trp22270Leu)
c.48572G>T (p.Trp16191Leu)
c.38426G>T (p.Trp12809Leu)
 COSMIC COSMIC COSMIC
2g.178570455C>GCA349621033TTN,TTN-AS1c.67973G>C (p.Trp22658Ser)
c.49058G>C (p.Trp16353Ser)
c.48857G>C (p.Trp16286Ser)
c.48482G>C (p.Trp16161Ser)
c.75677G>C (p.Trp25226Ser)
c.70754G>C (p.Trp23585Ser)
n.447-845C>G
n.2044-12117C>G
c.74774G>C (p.Trp24925Ser)
c.48668G>C (p.Trp16223Ser)
c.48527G>C (p.Trp16176Ser)
c.74570G>C (p.Trp24857Ser)
c.69968G>C (p.Trp23323Ser)
c.69965G>C (p.Trp23322Ser)
c.67007G>C (p.Trp22336Ser)
c.48623G>C (p.Trp16208Ser)
c.70118G>C (p.Trp23373Ser)
c.70115G>C (p.Trp23372Ser)
c.69548G>C (p.Trp23183Ser)
c.66890G>C (p.Trp22297Ser)
c.66809G>C (p.Trp22270Ser)
c.48572G>C (p.Trp16191Ser)
c.38426G>C (p.Trp12809Ser)
2g.178570455C>TCA349621034TTN,TTN-AS1c.67973G>A (p.Trp22658Ter)
c.49058G>A (p.Trp16353Ter)
c.48857G>A (p.Trp16286Ter)
c.48482G>A (p.Trp16161Ter)
c.75677G>A (p.Trp25226Ter)
c.70754G>A (p.Trp23585Ter)
n.447-845C>T
n.2044-12117C>T
c.74774G>A (p.Trp24925Ter)
c.48668G>A (p.Trp16223Ter)
c.48527G>A (p.Trp16176Ter)
c.74570G>A (p.Trp24857Ter)
c.69968G>A (p.Trp23323Ter)
c.69965G>A (p.Trp23322Ter)
c.67007G>A (p.Trp22336Ter)
c.48623G>A (p.Trp16208Ter)
c.70118G>A (p.Trp23373Ter)
c.70115G>A (p.Trp23372Ter)
c.69548G>A (p.Trp23183Ter)
c.66890G>A (p.Trp22297Ter)
c.66809G>A (p.Trp22270Ter)
c.48572G>A (p.Trp16191Ter)
c.38426G>A (p.Trp12809Ter)
2g.178570456A>CCA349621038TTN,TTN-AS1c.67972T>G (p.Trp22658Gly)
c.49057T>G (p.Trp16353Gly)
c.48856T>G (p.Trp16286Gly)
c.48481T>G (p.Trp16161Gly)
c.75676T>G (p.Trp25226Gly)
c.70753T>G (p.Trp23585Gly)
n.447-844A>C
n.2044-12116A>C
c.74773T>G (p.Trp24925Gly)
c.48667T>G (p.Trp16223Gly)
c.48526T>G (p.Trp16176Gly)
c.74569T>G (p.Trp24857Gly)
c.69967T>G (p.Trp23323Gly)
c.69964T>G (p.Trp23322Gly)
c.67006T>G (p.Trp22336Gly)
c.48622T>G (p.Trp16208Gly)
c.70117T>G (p.Trp23373Gly)
c.70114T>G (p.Trp23372Gly)
c.69547T>G (p.Trp23183Gly)
c.66889T>G (p.Trp22297Gly)
c.66808T>G (p.Trp22270Gly)
c.48571T>G (p.Trp16191Gly)
c.38425T>G (p.Trp12809Gly)
2g.178570456A>GCA349621040TTN,TTN-AS1c.67972T>C (p.Trp22658Arg)
c.49057T>C (p.Trp16353Arg)
c.48856T>C (p.Trp16286Arg)
c.48481T>C (p.Trp16161Arg)
c.75676T>C (p.Trp25226Arg)
c.70753T>C (p.Trp23585Arg)
n.447-844A>G
n.2044-12116A>G
c.74773T>C (p.Trp24925Arg)
c.48667T>C (p.Trp16223Arg)
c.48526T>C (p.Trp16176Arg)
c.74569T>C (p.Trp24857Arg)
c.69967T>C (p.Trp23323Arg)
c.69964T>C (p.Trp23322Arg)
c.67006T>C (p.Trp22336Arg)
c.48622T>C (p.Trp16208Arg)
c.70117T>C (p.Trp23373Arg)
c.70114T>C (p.Trp23372Arg)
c.69547T>C (p.Trp23183Arg)
c.66889T>C (p.Trp22297Arg)
c.66808T>C (p.Trp22270Arg)
c.48571T>C (p.Trp16191Arg)
c.38425T>C (p.Trp12809Arg)
2g.178570456A>TCA349621042TTN,TTN-AS1c.67972T>A (p.Trp22658Arg)
c.49057T>A (p.Trp16353Arg)
c.48856T>A (p.Trp16286Arg)
c.48481T>A (p.Trp16161Arg)
c.75676T>A (p.Trp25226Arg)
c.70753T>A (p.Trp23585Arg)
n.447-844A>T
n.2044-12116A>T
c.74773T>A (p.Trp24925Arg)
c.48667T>A (p.Trp16223Arg)
c.48526T>A (p.Trp16176Arg)
c.74569T>A (p.Trp24857Arg)
c.69967T>A (p.Trp23323Arg)
c.69964T>A (p.Trp23322Arg)
c.67006T>A (p.Trp22336Arg)
c.48622T>A (p.Trp16208Arg)
c.70117T>A (p.Trp23373Arg)
c.70114T>A (p.Trp23372Arg)
c.69547T>A (p.Trp23183Arg)
c.66889T>A (p.Trp22297Arg)
c.66808T>A (p.Trp22270Arg)
c.48571T>A (p.Trp16191Arg)
c.38425T>A (p.Trp12809Arg)
2g.178570457A>CCA430254776TTN,TTN-AS1c.67971T>G (p.Ala22657=)
c.49056T>G (p.Ala16352=)
c.48855T>G (p.Ala16285=)
c.48480T>G (p.Ala16160=)
c.75675T>G (p.Ala25225=)
c.70752T>G (p.Ala23584=)
n.447-843A>C
n.2044-12115A>C
c.74772T>G (p.Ala24924=)
c.48666T>G (p.Ala16222=)
c.48525T>G (p.Ala16175=)
c.74568T>G (p.Ala24856=)
c.69966T>G (p.Ala23322=)
c.69963T>G (p.Ala23321=)
c.67005T>G (p.Ala22335=)
c.48621T>G (p.Ala16207=)
c.70116T>G (p.Ala23372=)
c.70113T>G (p.Ala23371=)
c.69546T>G (p.Ala23182=)
c.66888T>G (p.Ala22296=)
c.66807T>G (p.Ala22269=)
c.48570T>G (p.Ala16190=)
c.38424T>G (p.Ala12808=)
2g.178570457A>GCA430254778TTN,TTN-AS1c.67971T>C (p.Ala22657=)
c.49056T>C (p.Ala16352=)
c.48855T>C (p.Ala16285=)
c.48480T>C (p.Ala16160=)
c.75675T>C (p.Ala25225=)
c.70752T>C (p.Ala23584=)
n.447-843A>G
n.2044-12115A>G
c.74772T>C (p.Ala24924=)
c.48666T>C (p.Ala16222=)
c.48525T>C (p.Ala16175=)
c.74568T>C (p.Ala24856=)
c.69966T>C (p.Ala23322=)
c.69963T>C (p.Ala23321=)
c.67005T>C (p.Ala22335=)
c.48621T>C (p.Ala16207=)
c.70116T>C (p.Ala23372=)
c.70113T>C (p.Ala23371=)
c.69546T>C (p.Ala23182=)
c.66888T>C (p.Ala22296=)
c.66807T>C (p.Ala22269=)
c.48570T>C (p.Ala16190=)
c.38424T>C (p.Ala12808=)
2g.178570457A>TCA430254777TTN,TTN-AS1c.67971T>A (p.Ala22657=)
c.49056T>A (p.Ala16352=)
c.48855T>A (p.Ala16285=)
c.48480T>A (p.Ala16160=)
c.75675T>A (p.Ala25225=)
c.70752T>A (p.Ala23584=)
n.447-843A>T
n.2044-12115A>T
c.74772T>A (p.Ala24924=)
c.48666T>A (p.Ala16222=)
c.48525T>A (p.Ala16175=)
c.74568T>A (p.Ala24856=)
c.69966T>A (p.Ala23322=)
c.69963T>A (p.Ala23321=)
c.67005T>A (p.Ala22335=)
c.48621T>A (p.Ala16207=)
c.70116T>A (p.Ala23372=)
c.70113T>A (p.Ala23371=)
c.69546T>A (p.Ala23182=)
c.66888T>A (p.Ala22296=)
c.66807T>A (p.Ala22269=)
c.48570T>A (p.Ala16190=)
c.38424T>A (p.Ala12808=)
2g.178570458G>ACA349621046TTN,TTN-AS1c.67970C>T (p.Ala22657Val)
c.49055C>T (p.Ala16352Val)
c.48854C>T (p.Ala16285Val)
c.48479C>T (p.Ala16160Val)
c.75674C>T (p.Ala25225Val)
c.70751C>T (p.Ala23584Val)
n.447-842G>A
n.2044-12114G>A
c.74771C>T (p.Ala24924Val)
c.48665C>T (p.Ala16222Val)
c.48524C>T (p.Ala16175Val)
c.74567C>T (p.Ala24856Val)
c.69965C>T (p.Ala23322Val)
c.69962C>T (p.Ala23321Val)
c.67004C>T (p.Ala22335Val)
c.48620C>T (p.Ala16207Val)
c.70115C>T (p.Ala23372Val)
c.70112C>T (p.Ala23371Val)
c.69545C>T (p.Ala23182Val)
c.66887C>T (p.Ala22296Val)
c.66806C>T (p.Ala22269Val)
c.48569C>T (p.Ala16190Val)
c.38423C>T (p.Ala12808Val)
 gnomAD v4
2g.178570458G>CCA349621048TTN,TTN-AS1c.67970C>G (p.Ala22657Gly)
c.49055C>G (p.Ala16352Gly)
c.48854C>G (p.Ala16285Gly)
c.48479C>G (p.Ala16160Gly)
c.75674C>G (p.Ala25225Gly)
c.70751C>G (p.Ala23584Gly)
n.447-842G>C
n.2044-12114G>C
c.74771C>G (p.Ala24924Gly)
c.48665C>G (p.Ala16222Gly)
c.48524C>G (p.Ala16175Gly)
c.74567C>G (p.Ala24856Gly)
c.69965C>G (p.Ala23322Gly)
c.69962C>G (p.Ala23321Gly)
c.67004C>G (p.Ala22335Gly)
c.48620C>G (p.Ala16207Gly)
c.70115C>G (p.Ala23372Gly)
c.70112C>G (p.Ala23371Gly)
c.69545C>G (p.Ala23182Gly)
c.66887C>G (p.Ala22296Gly)
c.66806C>G (p.Ala22269Gly)
c.48569C>G (p.Ala16190Gly)
c.38423C>G (p.Ala12808Gly)
2g.178570458G>TCA349621045TTN,TTN-AS1c.67970C>A (p.Ala22657Asp)
c.49055C>A (p.Ala16352Asp)
c.48854C>A (p.Ala16285Asp)
c.48479C>A (p.Ala16160Asp)
c.75674C>A (p.Ala25225Asp)
c.70751C>A (p.Ala23584Asp)
n.447-842G>T
n.2044-12114G>T
c.74771C>A (p.Ala24924Asp)
c.48665C>A (p.Ala16222Asp)
c.48524C>A (p.Ala16175Asp)
c.74567C>A (p.Ala24856Asp)
c.69965C>A (p.Ala23322Asp)
c.69962C>A (p.Ala23321Asp)
c.67004C>A (p.Ala22335Asp)
c.48620C>A (p.Ala16207Asp)
c.70115C>A (p.Ala23372Asp)
c.70112C>A (p.Ala23371Asp)
c.69545C>A (p.Ala23182Asp)
c.66887C>A (p.Ala22296Asp)
c.66806C>A (p.Ala22269Asp)
c.48569C>A (p.Ala16190Asp)
c.38423C>A (p.Ala12808Asp)
2g.178570459C>ACA349621053TTN,TTN-AS1c.67969G>T (p.Ala22657Ser)
c.49054G>T (p.Ala16352Ser)
c.48853G>T (p.Ala16285Ser)
c.48478G>T (p.Ala16160Ser)
c.75673G>T (p.Ala25225Ser)
c.70750G>T (p.Ala23584Ser)
n.447-841C>A
n.2044-12113C>A
c.74770G>T (p.Ala24924Ser)
c.48664G>T (p.Ala16222Ser)
c.48523G>T (p.Ala16175Ser)
c.74566G>T (p.Ala24856Ser)
c.69964G>T (p.Ala23322Ser)
c.69961G>T (p.Ala23321Ser)
c.67003G>T (p.Ala22335Ser)
c.48619G>T (p.Ala16207Ser)
c.70114G>T (p.Ala23372Ser)
c.70111G>T (p.Ala23371Ser)
c.69544G>T (p.Ala23182Ser)
c.66886G>T (p.Ala22296Ser)
c.66805G>T (p.Ala22269Ser)
c.48568G>T (p.Ala16190Ser)
c.38422G>T (p.Ala12808Ser)
2g.178570459C>GCA349621058TTN,TTN-AS1c.67969G>C (p.Ala22657Pro)
c.49054G>C (p.Ala16352Pro)
c.48853G>C (p.Ala16285Pro)
c.48478G>C (p.Ala16160Pro)
c.75673G>C (p.Ala25225Pro)
c.70750G>C (p.Ala23584Pro)
n.447-841C>G
n.2044-12113C>G
c.74770G>C (p.Ala24924Pro)
c.48664G>C (p.Ala16222Pro)
c.48523G>C (p.Ala16175Pro)
c.74566G>C (p.Ala24856Pro)
c.69964G>C (p.Ala23322Pro)
c.69961G>C (p.Ala23321Pro)
c.67003G>C (p.Ala22335Pro)
c.48619G>C (p.Ala16207Pro)
c.70114G>C (p.Ala23372Pro)
c.70111G>C (p.Ala23371Pro)
c.69544G>C (p.Ala23182Pro)
c.66886G>C (p.Ala22296Pro)
c.66805G>C (p.Ala22269Pro)
c.48568G>C (p.Ala16190Pro)
c.38422G>C (p.Ala12808Pro)
2g.178570459C>TCA349621059TTN,TTN-AS1c.67969G>A (p.Ala22657Thr)
c.49054G>A (p.Ala16352Thr)
c.48853G>A (p.Ala16285Thr)
c.48478G>A (p.Ala16160Thr)
c.75673G>A (p.Ala25225Thr)
c.70750G>A (p.Ala23584Thr)
n.447-841C>T
n.2044-12113C>T
c.74770G>A (p.Ala24924Thr)
c.48664G>A (p.Ala16222Thr)
c.48523G>A (p.Ala16175Thr)
c.74566G>A (p.Ala24856Thr)
c.69964G>A (p.Ala23322Thr)
c.69961G>A (p.Ala23321Thr)
c.67003G>A (p.Ala22335Thr)
c.48619G>A (p.Ala16207Thr)
c.70114G>A (p.Ala23372Thr)
c.70111G>A (p.Ala23371Thr)
c.69544G>A (p.Ala23182Thr)
c.66886G>A (p.Ala22296Thr)
c.66805G>A (p.Ala22269Thr)
c.48568G>A (p.Ala16190Thr)
c.38422G>A (p.Ala12808Thr)
2g.178570460T>ACA430254779TTN,TTN-AS1c.67968A>T (p.Leu22656=)
c.49053A>T (p.Leu16351=)
c.48852A>T (p.Leu16284=)
c.48477A>T (p.Leu16159=)
c.75672A>T (p.Leu25224=)
c.70749A>T (p.Leu23583=)
n.447-840T>A
n.2044-12112T>A
c.74769A>T (p.Leu24923=)
c.48663A>T (p.Leu16221=)
c.48522A>T (p.Leu16174=)
c.74565A>T (p.Leu24855=)
c.69963A>T (p.Leu23321=)
c.69960A>T (p.Leu23320=)
c.67002A>T (p.Leu22334=)
c.48618A>T (p.Leu16206=)
c.70113A>T (p.Leu23371=)
c.70110A>T (p.Leu23370=)
c.69543A>T (p.Leu23181=)
c.66885A>T (p.Leu22295=)
c.66804A>T (p.Leu22268=)
c.48567A>T (p.Leu16189=)
c.38421A>T (p.Leu12807=)
2g.178570460T>CCA430254780TTN,TTN-AS1c.67968A>G (p.Leu22656=)
c.49053A>G (p.Leu16351=)
c.48852A>G (p.Leu16284=)
c.48477A>G (p.Leu16159=)
c.75672A>G (p.Leu25224=)
c.70749A>G (p.Leu23583=)
n.447-840T>C
n.2044-12112T>C
c.74769A>G (p.Leu24923=)
c.48663A>G (p.Leu16221=)
c.48522A>G (p.Leu16174=)
c.74565A>G (p.Leu24855=)
c.69963A>G (p.Leu23321=)
c.69960A>G (p.Leu23320=)
c.67002A>G (p.Leu22334=)
c.48618A>G (p.Leu16206=)
c.70113A>G (p.Leu23371=)
c.70110A>G (p.Leu23370=)
c.69543A>G (p.Leu23181=)
c.66885A>G (p.Leu22295=)
c.66804A>G (p.Leu22268=)
c.48567A>G (p.Leu16189=)
c.38421A>G (p.Leu12807=)
2g.178570460T>GCA430254781TTN,TTN-AS1c.67968A>C (p.Leu22656=)
c.49053A>C (p.Leu16351=)
c.48852A>C (p.Leu16284=)
c.48477A>C (p.Leu16159=)
c.75672A>C (p.Leu25224=)
c.70749A>C (p.Leu23583=)
n.447-840T>G
n.2044-12112T>G
c.74769A>C (p.Leu24923=)
c.48663A>C (p.Leu16221=)
c.48522A>C (p.Leu16174=)
c.74565A>C (p.Leu24855=)
c.69963A>C (p.Leu23321=)
c.69960A>C (p.Leu23320=)
c.67002A>C (p.Leu22334=)
c.48618A>C (p.Leu16206=)
c.70113A>C (p.Leu23371=)
c.70110A>C (p.Leu23370=)
c.69543A>C (p.Leu23181=)
c.66885A>C (p.Leu22295=)
c.66804A>C (p.Leu22268=)
c.48567A>C (p.Leu16189=)
c.38421A>C (p.Leu12807=)
2g.178570461A>CCA349621066TTN,TTN-AS1c.67967T>G (p.Leu22656Arg)
c.49052T>G (p.Leu16351Arg)
c.48851T>G (p.Leu16284Arg)
c.48476T>G (p.Leu16159Arg)
c.75671T>G (p.Leu25224Arg)
c.70748T>G (p.Leu23583Arg)
n.447-839A>C
n.2044-12111A>C
c.74768T>G (p.Leu24923Arg)
c.48662T>G (p.Leu16221Arg)
c.48521T>G (p.Leu16174Arg)
c.74564T>G (p.Leu24855Arg)
c.69962T>G (p.Leu23321Arg)
c.69959T>G (p.Leu23320Arg)
c.67001T>G (p.Leu22334Arg)
c.48617T>G (p.Leu16206Arg)
c.70112T>G (p.Leu23371Arg)
c.70109T>G (p.Leu23370Arg)
c.69542T>G (p.Leu23181Arg)
c.66884T>G (p.Leu22295Arg)
c.66803T>G (p.Leu22268Arg)
c.48566T>G (p.Leu16189Arg)
c.38420T>G (p.Leu12807Arg)
2g.178570461A>GCA349621070TTN,TTN-AS1c.67967T>C (p.Leu22656Pro)
c.49052T>C (p.Leu16351Pro)
c.48851T>C (p.Leu16284Pro)
c.48476T>C (p.Leu16159Pro)
c.75671T>C (p.Leu25224Pro)
c.70748T>C (p.Leu23583Pro)
n.447-839A>G
n.2044-12111A>G
c.74768T>C (p.Leu24923Pro)
c.48662T>C (p.Leu16221Pro)
c.48521T>C (p.Leu16174Pro)
c.74564T>C (p.Leu24855Pro)
c.69962T>C (p.Leu23321Pro)
c.69959T>C (p.Leu23320Pro)
c.67001T>C (p.Leu22334Pro)
c.48617T>C (p.Leu16206Pro)
c.70112T>C (p.Leu23371Pro)
c.70109T>C (p.Leu23370Pro)
c.69542T>C (p.Leu23181Pro)
c.66884T>C (p.Leu22295Pro)
c.66803T>C (p.Leu22268Pro)
c.48566T>C (p.Leu16189Pro)
c.38420T>C (p.Leu12807Pro)
2g.178570461A>TCA349621071TTN,TTN-AS1c.67967T>A (p.Leu22656Gln)
c.49052T>A (p.Leu16351Gln)
c.48851T>A (p.Leu16284Gln)
c.48476T>A (p.Leu16159Gln)
c.75671T>A (p.Leu25224Gln)
c.70748T>A (p.Leu23583Gln)
n.447-839A>T
n.2044-12111A>T
c.74768T>A (p.Leu24923Gln)
c.48662T>A (p.Leu16221Gln)
c.48521T>A (p.Leu16174Gln)
c.74564T>A (p.Leu24855Gln)
c.69962T>A (p.Leu23321Gln)
c.69959T>A (p.Leu23320Gln)
c.67001T>A (p.Leu22334Gln)
c.48617T>A (p.Leu16206Gln)
c.70112T>A (p.Leu23371Gln)
c.70109T>A (p.Leu23370Gln)
c.69542T>A (p.Leu23181Gln)
c.66884T>A (p.Leu22295Gln)
c.66803T>A (p.Leu22268Gln)
c.48566T>A (p.Leu16189Gln)
c.38420T>A (p.Leu12807Gln)
2g.178570462G>ACA60994984TTN,TTN-AS1c.67966C>T (p.Leu22656=)
c.49051C>T (p.Leu16351=)
c.48850C>T (p.Leu16284=)
c.48475C>T (p.Leu16159=)
c.75670C>T (p.Leu25224=)
c.70747C>T (p.Leu23583=)
n.447-838G>A
n.2044-12110G>A
c.74767C>T (p.Leu24923=)
c.48661C>T (p.Leu16221=)
c.48520C>T (p.Leu16174=)
c.74563C>T (p.Leu24855=)
c.69961C>T (p.Leu23321=)
c.69958C>T (p.Leu23320=)
c.67000C>T (p.Leu22334=)
c.48616C>T (p.Leu16206=)
c.70111C>T (p.Leu23371=)
c.70108C>T (p.Leu23370=)
c.69541C>T (p.Leu23181=)
c.66883C>T (p.Leu22295=)
c.66802C>T (p.Leu22268=)
c.48565C>T (p.Leu16189=)
c.38419C>T (p.Leu12807=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178570462G>CCA349621072TTN,TTN-AS1c.67966C>G (p.Leu22656Val)
c.49051C>G (p.Leu16351Val)
c.48850C>G (p.Leu16284Val)
c.48475C>G (p.Leu16159Val)
c.75670C>G (p.Leu25224Val)
c.70747C>G (p.Leu23583Val)
n.447-838G>C
n.2044-12110G>C
c.74767C>G (p.Leu24923Val)
c.48661C>G (p.Leu16221Val)
c.48520C>G (p.Leu16174Val)
c.74563C>G (p.Leu24855Val)
c.69961C>G (p.Leu23321Val)
c.69958C>G (p.Leu23320Val)
c.67000C>G (p.Leu22334Val)
c.48616C>G (p.Leu16206Val)
c.70111C>G (p.Leu23371Val)
c.70108C>G (p.Leu23370Val)
c.69541C>G (p.Leu23181Val)
c.66883C>G (p.Leu22295Val)
c.66802C>G (p.Leu22268Val)
c.48565C>G (p.Leu16189Val)
c.38419C>G (p.Leu12807Val)
2g.178570462G=CA1310531114TTN,TTN-AS1c.67966C= (p.Leu22656=)
c.49051C= (p.Leu16351=)
c.48850C= (p.Leu16284=)
c.48475C= (p.Leu16159=)
c.75670C= (p.Leu25224=)
c.70747C= (p.Leu23583=)
n.447-838G=
n.2044-12110G=
c.74767C= (p.Leu24923=)
c.48661C= (p.Leu16221=)
c.48520C= (p.Leu16174=)
c.74563C= (p.Leu24855=)
c.69961C= (p.Leu23321=)
c.69958C= (p.Leu23320=)
c.67000C= (p.Leu22334=)
c.48616C= (p.Leu16206=)
c.70111C= (p.Leu23371=)
c.70108C= (p.Leu23370=)
c.69541C= (p.Leu23181=)
c.66883C= (p.Leu22295=)
c.66802C= (p.Leu22268=)
c.48565C= (p.Leu16189=)
c.38419C= (p.Leu12807=)
2g.178570462G>TCA349621073TTN,TTN-AS1c.67966C>A (p.Leu22656Ile)
c.49051C>A (p.Leu16351Ile)
c.48850C>A (p.Leu16284Ile)
c.48475C>A (p.Leu16159Ile)
c.75670C>A (p.Leu25224Ile)
c.70747C>A (p.Leu23583Ile)
n.447-838G>T
n.2044-12110G>T
c.74767C>A (p.Leu24923Ile)
c.48661C>A (p.Leu16221Ile)
c.48520C>A (p.Leu16174Ile)
c.74563C>A (p.Leu24855Ile)
c.69961C>A (p.Leu23321Ile)
c.69958C>A (p.Leu23320Ile)
c.67000C>A (p.Leu22334Ile)
c.48616C>A (p.Leu16206Ile)
c.70111C>A (p.Leu23371Ile)
c.70108C>A (p.Leu23370Ile)
c.69541C>A (p.Leu23181Ile)
c.66883C>A (p.Leu22295Ile)
c.66802C>A (p.Leu22268Ile)
c.48565C>A (p.Leu16189Ile)
c.38419C>A (p.Leu12807Ile)
 gnomAD v4
2g.178570463T>ACA430254784TTN,TTN-AS1c.67965A>T (p.Thr22655=)
c.49050A>T (p.Thr16350=)
c.48849A>T (p.Thr16283=)
c.48474A>T (p.Thr16158=)
c.75669A>T (p.Thr25223=)
c.70746A>T (p.Thr23582=)
n.447-837T>A
n.2044-12109T>A
c.74766A>T (p.Thr24922=)
c.48660A>T (p.Thr16220=)
c.48519A>T (p.Thr16173=)
c.74562A>T (p.Thr24854=)
c.69960A>T (p.Thr23320=)
c.69957A>T (p.Thr23319=)
c.66999A>T (p.Thr22333=)
c.48615A>T (p.Thr16205=)
c.70110A>T (p.Thr23370=)
c.70107A>T (p.Thr23369=)
c.69540A>T (p.Thr23180=)
c.66882A>T (p.Thr22294=)
c.66801A>T (p.Thr22267=)
c.48564A>T (p.Thr16188=)
c.38418A>T (p.Thr12806=)
2g.178570463T>CCA430254786TTN,TTN-AS1c.67965A>G (p.Thr22655=)
c.49050A>G (p.Thr16350=)
c.48849A>G (p.Thr16283=)
c.48474A>G (p.Thr16158=)
c.75669A>G (p.Thr25223=)
c.70746A>G (p.Thr23582=)
n.447-837T>C
n.2044-12109T>C
c.74766A>G (p.Thr24922=)
c.48660A>G (p.Thr16220=)
c.48519A>G (p.Thr16173=)
c.74562A>G (p.Thr24854=)
c.69960A>G (p.Thr23320=)
c.69957A>G (p.Thr23319=)
c.66999A>G (p.Thr22333=)
c.48615A>G (p.Thr16205=)
c.70110A>G (p.Thr23370=)
c.70107A>G (p.Thr23369=)
c.69540A>G (p.Thr23180=)
c.66882A>G (p.Thr22294=)
c.66801A>G (p.Thr22267=)
c.48564A>G (p.Thr16188=)
c.38418A>G (p.Thr12806=)
2g.178570463T>GCA430254785TTN,TTN-AS1c.67965A>C (p.Thr22655=)
c.49050A>C (p.Thr16350=)
c.48849A>C (p.Thr16283=)
c.48474A>C (p.Thr16158=)
c.75669A>C (p.Thr25223=)
c.70746A>C (p.Thr23582=)
n.447-837T>G
n.2044-12109T>G
c.74766A>C (p.Thr24922=)
c.48660A>C (p.Thr16220=)
c.48519A>C (p.Thr16173=)
c.74562A>C (p.Thr24854=)
c.69960A>C (p.Thr23320=)
c.69957A>C (p.Thr23319=)
c.66999A>C (p.Thr22333=)
c.48615A>C (p.Thr16205=)
c.70110A>C (p.Thr23370=)
c.70107A>C (p.Thr23369=)
c.69540A>C (p.Thr23180=)
c.66882A>C (p.Thr22294=)
c.66801A>C (p.Thr22267=)
c.48564A>C (p.Thr16188=)
c.38418A>C (p.Thr12806=)
2g.178570464G>ACA1990011TTN,TTN-AS1c.67964C>T (p.Thr22655Ile)
c.49049C>T (p.Thr16350Ile)
c.48848C>T (p.Thr16283Ile)
c.48473C>T (p.Thr16158Ile)
c.75668C>T (p.Thr25223Ile)
c.70745C>T (p.Thr23582Ile)
n.447-836G>A
n.2044-12108G>A
c.74765C>T (p.Thr24922Ile)
c.48659C>T (p.Thr16220Ile)
c.48518C>T (p.Thr16173Ile)
c.74561C>T (p.Thr24854Ile)
c.69959C>T (p.Thr23320Ile)
c.69956C>T (p.Thr23319Ile)
c.66998C>T (p.Thr22333Ile)
c.48614C>T (p.Thr16205Ile)
c.70109C>T (p.Thr23370Ile)
c.70106C>T (p.Thr23369Ile)
c.69539C>T (p.Thr23180Ile)
c.66881C>T (p.Thr22294Ile)
c.66800C>T (p.Thr22267Ile)
c.48563C>T (p.Thr16188Ile)
c.38417C>T (p.Thr12806Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570464G>CCA349621086TTN,TTN-AS1c.67964C>G (p.Thr22655Arg)
c.49049C>G (p.Thr16350Arg)
c.48848C>G (p.Thr16283Arg)
c.48473C>G (p.Thr16158Arg)
c.75668C>G (p.Thr25223Arg)
c.70745C>G (p.Thr23582Arg)
n.447-836G>C
n.2044-12108G>C
c.74765C>G (p.Thr24922Arg)
c.48659C>G (p.Thr16220Arg)
c.48518C>G (p.Thr16173Arg)
c.74561C>G (p.Thr24854Arg)
c.69959C>G (p.Thr23320Arg)
c.69956C>G (p.Thr23319Arg)
c.66998C>G (p.Thr22333Arg)
c.48614C>G (p.Thr16205Arg)
c.70109C>G (p.Thr23370Arg)
c.70106C>G (p.Thr23369Arg)
c.69539C>G (p.Thr23180Arg)
c.66881C>G (p.Thr22294Arg)
c.66800C>G (p.Thr22267Arg)
c.48563C>G (p.Thr16188Arg)
c.38417C>G (p.Thr12806Arg)
2g.178570464G=CA1310531115TTN,TTN-AS1c.67964C= (p.Thr22655=)
c.49049C= (p.Thr16350=)
c.48848C= (p.Thr16283=)
c.48473C= (p.Thr16158=)
c.75668C= (p.Thr25223=)
c.70745C= (p.Thr23582=)
n.447-836G=
n.2044-12108G=
c.74765C= (p.Thr24922=)
c.48659C= (p.Thr16220=)
c.48518C= (p.Thr16173=)
c.74561C= (p.Thr24854=)
c.69959C= (p.Thr23320=)
c.69956C= (p.Thr23319=)
c.66998C= (p.Thr22333=)
c.48614C= (p.Thr16205=)
c.70109C= (p.Thr23370=)
c.70106C= (p.Thr23369=)
c.69539C= (p.Thr23180=)
c.66881C= (p.Thr22294=)
c.66800C= (p.Thr22267=)
c.48563C= (p.Thr16188=)
c.38417C= (p.Thr12806=)
2g.178570464G>TCA349621095TTN,TTN-AS1c.67964C>A (p.Thr22655Lys)
c.49049C>A (p.Thr16350Lys)
c.48848C>A (p.Thr16283Lys)
c.48473C>A (p.Thr16158Lys)
c.75668C>A (p.Thr25223Lys)
c.70745C>A (p.Thr23582Lys)
n.447-836G>T
n.2044-12108G>T
c.74765C>A (p.Thr24922Lys)
c.48659C>A (p.Thr16220Lys)
c.48518C>A (p.Thr16173Lys)
c.74561C>A (p.Thr24854Lys)
c.69959C>A (p.Thr23320Lys)
c.69956C>A (p.Thr23319Lys)
c.66998C>A (p.Thr22333Lys)
c.48614C>A (p.Thr16205Lys)
c.70109C>A (p.Thr23370Lys)
c.70106C>A (p.Thr23369Lys)
c.69539C>A (p.Thr23180Lys)
c.66881C>A (p.Thr22294Lys)
c.66800C>A (p.Thr22267Lys)
c.48563C>A (p.Thr16188Lys)
c.38417C>A (p.Thr12806Lys)
2g.178570465T>ACA349621099TTN,TTN-AS1c.67963A>T (p.Thr22655Ser)
c.49048A>T (p.Thr16350Ser)
c.48847A>T (p.Thr16283Ser)
c.48472A>T (p.Thr16158Ser)
c.75667A>T (p.Thr25223Ser)
c.70744A>T (p.Thr23582Ser)
n.447-835T>A
n.2044-12107T>A
c.74764A>T (p.Thr24922Ser)
c.48658A>T (p.Thr16220Ser)
c.48517A>T (p.Thr16173Ser)
c.74560A>T (p.Thr24854Ser)
c.69958A>T (p.Thr23320Ser)
c.69955A>T (p.Thr23319Ser)
c.66997A>T (p.Thr22333Ser)
c.48613A>T (p.Thr16205Ser)
c.70108A>T (p.Thr23370Ser)
c.70105A>T (p.Thr23369Ser)
c.69538A>T (p.Thr23180Ser)
c.66880A>T (p.Thr22294Ser)
c.66799A>T (p.Thr22267Ser)
c.48562A>T (p.Thr16188Ser)
c.38416A>T (p.Thr12806Ser)
2g.178570465T>CCA349621101TTN,TTN-AS1c.67963A>G (p.Thr22655Ala)
c.49048A>G (p.Thr16350Ala)
c.48847A>G (p.Thr16283Ala)
c.48472A>G (p.Thr16158Ala)
c.75667A>G (p.Thr25223Ala)
c.70744A>G (p.Thr23582Ala)
n.447-835T>C
n.2044-12107T>C
c.74764A>G (p.Thr24922Ala)
c.48658A>G (p.Thr16220Ala)
c.48517A>G (p.Thr16173Ala)
c.74560A>G (p.Thr24854Ala)
c.69958A>G (p.Thr23320Ala)
c.69955A>G (p.Thr23319Ala)
c.66997A>G (p.Thr22333Ala)
c.48613A>G (p.Thr16205Ala)
c.70108A>G (p.Thr23370Ala)
c.70105A>G (p.Thr23369Ala)
c.69538A>G (p.Thr23180Ala)
c.66880A>G (p.Thr22294Ala)
c.66799A>G (p.Thr22267Ala)
c.48562A>G (p.Thr16188Ala)
c.38416A>G (p.Thr12806Ala)
2g.178570465T>GCA349621111TTN,TTN-AS1c.67963A>C (p.Thr22655Pro)
c.49048A>C (p.Thr16350Pro)
c.48847A>C (p.Thr16283Pro)
c.48472A>C (p.Thr16158Pro)
c.75667A>C (p.Thr25223Pro)
c.70744A>C (p.Thr23582Pro)
n.447-835T>G
n.2044-12107T>G
c.74764A>C (p.Thr24922Pro)
c.48658A>C (p.Thr16220Pro)
c.48517A>C (p.Thr16173Pro)
c.74560A>C (p.Thr24854Pro)
c.69958A>C (p.Thr23320Pro)
c.69955A>C (p.Thr23319Pro)
c.66997A>C (p.Thr22333Pro)
c.48613A>C (p.Thr16205Pro)
c.70108A>C (p.Thr23370Pro)
c.70105A>C (p.Thr23369Pro)
c.69538A>C (p.Thr23180Pro)
c.66880A>C (p.Thr22294Pro)
c.66799A>C (p.Thr22267Pro)
c.48562A>C (p.Thr16188Pro)
c.38416A>C (p.Thr12806Pro)
2g.178570466G>ACA430254790TTN,TTN-AS1c.67962C>T (p.Cys22654=)
c.49047C>T (p.Cys16349=)
c.48846C>T (p.Cys16282=)
c.48471C>T (p.Cys16157=)
c.75666C>T (p.Cys25222=)
c.70743C>T (p.Cys23581=)
n.447-834G>A
n.2044-12106G>A
c.74763C>T (p.Cys24921=)
c.48657C>T (p.Cys16219=)
c.48516C>T (p.Cys16172=)
c.74559C>T (p.Cys24853=)
c.69957C>T (p.Cys23319=)
c.69954C>T (p.Cys23318=)
c.66996C>T (p.Cys22332=)
c.48612C>T (p.Cys16204=)
c.70107C>T (p.Cys23369=)
c.70104C>T (p.Cys23368=)
c.69537C>T (p.Cys23179=)
c.66879C>T (p.Cys22293=)
c.66798C>T (p.Cys22266=)
c.48561C>T (p.Cys16187=)
c.38415C>T (p.Cys12805=)
2g.178570466G>CCA349621118TTN,TTN-AS1c.67962C>G (p.Cys22654Trp)
c.49047C>G (p.Cys16349Trp)
c.48846C>G (p.Cys16282Trp)
c.48471C>G (p.Cys16157Trp)
c.75666C>G (p.Cys25222Trp)
c.70743C>G (p.Cys23581Trp)
n.447-834G>C
n.2044-12106G>C
c.74763C>G (p.Cys24921Trp)
c.48657C>G (p.Cys16219Trp)
c.48516C>G (p.Cys16172Trp)
c.74559C>G (p.Cys24853Trp)
c.69957C>G (p.Cys23319Trp)
c.69954C>G (p.Cys23318Trp)
c.66996C>G (p.Cys22332Trp)
c.48612C>G (p.Cys16204Trp)
c.70107C>G (p.Cys23369Trp)
c.70104C>G (p.Cys23368Trp)
c.69537C>G (p.Cys23179Trp)
c.66879C>G (p.Cys22293Trp)
c.66798C>G (p.Cys22266Trp)
c.48561C>G (p.Cys16187Trp)
c.38415C>G (p.Cys12805Trp)
2g.178570466G=CA1310531116TTN,TTN-AS1c.67962C= (p.Cys22654=)
c.49047C= (p.Cys16349=)
c.48846C= (p.Cys16282=)
c.48471C= (p.Cys16157=)
c.75666C= (p.Cys25222=)
c.70743C= (p.Cys23581=)
n.447-834G=
n.2044-12106G=
c.74763C= (p.Cys24921=)
c.48657C= (p.Cys16219=)
c.48516C= (p.Cys16172=)
c.74559C= (p.Cys24853=)
c.69957C= (p.Cys23319=)
c.69954C= (p.Cys23318=)
c.66996C= (p.Cys22332=)
c.48612C= (p.Cys16204=)
c.70107C= (p.Cys23369=)
c.70104C= (p.Cys23368=)
c.69537C= (p.Cys23179=)
c.66879C= (p.Cys22293=)
c.66798C= (p.Cys22266=)
c.48561C= (p.Cys16187=)
c.38415C= (p.Cys12805=)

Number of alleles fetched