Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178543833_178543844delCA2844624964TTN,TTN-AS1c.88599_88606+4del
c.69684_69691+4del
c.69483_69490+4del
c.69108_69115+4del
c.96303_96310+4del
c.91380_91387+4del
n.446+20197_446+20208del
n.2043+1472_2043+1483del
c.95400_95407+4del
c.69294_69301+4del
c.69153_69160+4del
c.95196_95203+4del
c.90594_90601+4del
c.90591_90598+4del
c.87633_87640+4del
c.69249_69256+4del
c.90744_90751+4del
c.90741_90748+4del
c.90174_90181+4del
c.87516_87523+4del
c.87435_87442+4del
c.69198_69205+4del
c.59052_59059+4del
2g.178543839A>CCA349450257TTN,TTN-AS1c.88601T>G (p.Val29534Gly)
c.69686T>G (p.Val23229Gly)
c.69485T>G (p.Val23162Gly)
c.69110T>G (p.Val23037Gly)
c.96305T>G (p.Val32102Gly)
c.91382T>G (p.Val30461Gly)
n.446+20203A>C
n.2043+1478A>C
c.95402T>G (p.Val31801Gly)
c.69296T>G (p.Val23099Gly)
c.69155T>G (p.Val23052Gly)
c.95198T>G (p.Val31733Gly)
c.90596T>G (p.Val30199Gly)
c.90593T>G (p.Val30198Gly)
c.87635T>G (p.Val29212Gly)
c.69251T>G (p.Val23084Gly)
c.90746T>G (p.Val30249Gly)
c.90743T>G (p.Val30248Gly)
c.90176T>G (p.Val30059Gly)
c.87518T>G (p.Val29173Gly)
c.87437T>G (p.Val29146Gly)
c.69200T>G (p.Val23067Gly)
c.59054T>G (p.Val19685Gly)
2g.178543839A>GCA349450237TTN,TTN-AS1c.88601T>C (p.Val29534Ala)
c.69686T>C (p.Val23229Ala)
c.69485T>C (p.Val23162Ala)
c.69110T>C (p.Val23037Ala)
c.96305T>C (p.Val32102Ala)
c.91382T>C (p.Val30461Ala)
n.446+20203A>G
n.2043+1478A>G
c.95402T>C (p.Val31801Ala)
c.69296T>C (p.Val23099Ala)
c.69155T>C (p.Val23052Ala)
c.95198T>C (p.Val31733Ala)
c.90596T>C (p.Val30199Ala)
c.90593T>C (p.Val30198Ala)
c.87635T>C (p.Val29212Ala)
c.69251T>C (p.Val23084Ala)
c.90746T>C (p.Val30249Ala)
c.90743T>C (p.Val30248Ala)
c.90176T>C (p.Val30059Ala)
c.87518T>C (p.Val29173Ala)
c.87437T>C (p.Val29146Ala)
c.69200T>C (p.Val23067Ala)
c.59054T>C (p.Val19685Ala)
2g.178543839A>TCA349450233TTN,TTN-AS1c.88601T>A (p.Val29534Asp)
c.69686T>A (p.Val23229Asp)
c.69485T>A (p.Val23162Asp)
c.69110T>A (p.Val23037Asp)
c.96305T>A (p.Val32102Asp)
c.91382T>A (p.Val30461Asp)
n.446+20203A>T
n.2043+1478A>T
c.95402T>A (p.Val31801Asp)
c.69296T>A (p.Val23099Asp)
c.69155T>A (p.Val23052Asp)
c.95198T>A (p.Val31733Asp)
c.90596T>A (p.Val30199Asp)
c.90593T>A (p.Val30198Asp)
c.87635T>A (p.Val29212Asp)
c.69251T>A (p.Val23084Asp)
c.90746T>A (p.Val30249Asp)
c.90743T>A (p.Val30248Asp)
c.90176T>A (p.Val30059Asp)
c.87518T>A (p.Val29173Asp)
c.87437T>A (p.Val29146Asp)
c.69200T>A (p.Val23067Asp)
c.59054T>A (p.Val19685Asp)
2g.178543840C>ACA349450259TTN,TTN-AS1c.88600G>T (p.Val29534Phe)
c.69685G>T (p.Val23229Phe)
c.69484G>T (p.Val23162Phe)
c.69109G>T (p.Val23037Phe)
c.96304G>T (p.Val32102Phe)
c.91381G>T (p.Val30461Phe)
n.446+20204C>A
n.2043+1479C>A
c.95401G>T (p.Val31801Phe)
c.69295G>T (p.Val23099Phe)
c.69154G>T (p.Val23052Phe)
c.95197G>T (p.Val31733Phe)
c.90595G>T (p.Val30199Phe)
c.90592G>T (p.Val30198Phe)
c.87634G>T (p.Val29212Phe)
c.69250G>T (p.Val23084Phe)
c.90745G>T (p.Val30249Phe)
c.90742G>T (p.Val30248Phe)
c.90175G>T (p.Val30059Phe)
c.87517G>T (p.Val29173Phe)
c.87436G>T (p.Val29146Phe)
c.69199G>T (p.Val23067Phe)
c.59053G>T (p.Val19685Phe)
2g.178543840C=CA1310521109TTN,TTN-AS1c.88600G= (p.Val29534=)
c.69685G= (p.Val23229=)
c.69484G= (p.Val23162=)
c.69109G= (p.Val23037=)
c.96304G= (p.Val32102=)
c.91381G= (p.Val30461=)
n.446+20204C=
n.2043+1479C=
c.95401G= (p.Val31801=)
c.69295G= (p.Val23099=)
c.69154G= (p.Val23052=)
c.95197G= (p.Val31733=)
c.90595G= (p.Val30199=)
c.90592G= (p.Val30198=)
c.87634G= (p.Val29212=)
c.69250G= (p.Val23084=)
c.90745G= (p.Val30249=)
c.90742G= (p.Val30248=)
c.90175G= (p.Val30059=)
c.87517G= (p.Val29173=)
c.87436G= (p.Val29146=)
c.69199G= (p.Val23067=)
c.59053G= (p.Val19685=)
2g.178543840C>GCA349450260TTN,TTN-AS1c.88600G>C (p.Val29534Leu)
c.69685G>C (p.Val23229Leu)
c.69484G>C (p.Val23162Leu)
c.69109G>C (p.Val23037Leu)
c.96304G>C (p.Val32102Leu)
c.91381G>C (p.Val30461Leu)
n.446+20204C>G
n.2043+1479C>G
c.95401G>C (p.Val31801Leu)
c.69295G>C (p.Val23099Leu)
c.69154G>C (p.Val23052Leu)
c.95197G>C (p.Val31733Leu)
c.90595G>C (p.Val30199Leu)
c.90592G>C (p.Val30198Leu)
c.87634G>C (p.Val29212Leu)
c.69250G>C (p.Val23084Leu)
c.90745G>C (p.Val30249Leu)
c.90742G>C (p.Val30248Leu)
c.90175G>C (p.Val30059Leu)
c.87517G>C (p.Val29173Leu)
c.87436G>C (p.Val29146Leu)
c.69199G>C (p.Val23067Leu)
c.59053G>C (p.Val19685Leu)
2g.178543840C>TCA349450261TTN,TTN-AS1c.88600G>A (p.Val29534Ile)
c.69685G>A (p.Val23229Ile)
c.69484G>A (p.Val23162Ile)
c.69109G>A (p.Val23037Ile)
c.96304G>A (p.Val32102Ile)
c.91381G>A (p.Val30461Ile)
n.446+20204C>T
n.2043+1479C>T
c.95401G>A (p.Val31801Ile)
c.69295G>A (p.Val23099Ile)
c.69154G>A (p.Val23052Ile)
c.95197G>A (p.Val31733Ile)
c.90595G>A (p.Val30199Ile)
c.90592G>A (p.Val30198Ile)
c.87634G>A (p.Val29212Ile)
c.69250G>A (p.Val23084Ile)
c.90745G>A (p.Val30249Ile)
c.90742G>A (p.Val30248Ile)
c.90175G>A (p.Val30059Ile)
c.87517G>A (p.Val29173Ile)
c.87436G>A (p.Val29146Ile)
c.69199G>A (p.Val23067Ile)
c.59053G>A (p.Val19685Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178543841T>ACA349450262TTN,TTN-AS1c.88599A>T (p.Lys29533Asn)
c.69684A>T (p.Lys23228Asn)
c.69483A>T (p.Lys23161Asn)
c.69108A>T (p.Lys23036Asn)
c.96303A>T (p.Lys32101Asn)
c.91380A>T (p.Lys30460Asn)
n.446+20205T>A
n.2043+1480T>A
c.95400A>T (p.Lys31800Asn)
c.69294A>T (p.Lys23098Asn)
c.69153A>T (p.Lys23051Asn)
c.95196A>T (p.Lys31732Asn)
c.90594A>T (p.Lys30198Asn)
c.90591A>T (p.Lys30197Asn)
c.87633A>T (p.Lys29211Asn)
c.69249A>T (p.Lys23083Asn)
c.90744A>T (p.Lys30248Asn)
c.90741A>T (p.Lys30247Asn)
c.90174A>T (p.Lys30058Asn)
c.87516A>T (p.Lys29172Asn)
c.87435A>T (p.Lys29145Asn)
c.69198A>T (p.Lys23066Asn)
c.59052A>T (p.Lys19684Asn)
2g.178543841T>CCA430241397TTN,TTN-AS1c.88599A>G (p.Lys29533=)
c.69684A>G (p.Lys23228=)
c.69483A>G (p.Lys23161=)
c.69108A>G (p.Lys23036=)
c.96303A>G (p.Lys32101=)
c.91380A>G (p.Lys30460=)
n.446+20205T>C
n.2043+1480T>C
c.95400A>G (p.Lys31800=)
c.69294A>G (p.Lys23098=)
c.69153A>G (p.Lys23051=)
c.95196A>G (p.Lys31732=)
c.90594A>G (p.Lys30198=)
c.90591A>G (p.Lys30197=)
c.87633A>G (p.Lys29211=)
c.69249A>G (p.Lys23083=)
c.90744A>G (p.Lys30248=)
c.90741A>G (p.Lys30247=)
c.90174A>G (p.Lys30058=)
c.87516A>G (p.Lys29172=)
c.87435A>G (p.Lys29145=)
c.69198A>G (p.Lys23066=)
c.59052A>G (p.Lys19684=)
2g.178543841T>GCA349450263TTN,TTN-AS1c.88599A>C (p.Lys29533Asn)
c.69684A>C (p.Lys23228Asn)
c.69483A>C (p.Lys23161Asn)
c.69108A>C (p.Lys23036Asn)
c.96303A>C (p.Lys32101Asn)
c.91380A>C (p.Lys30460Asn)
n.446+20205T>G
n.2043+1480T>G
c.95400A>C (p.Lys31800Asn)
c.69294A>C (p.Lys23098Asn)
c.69153A>C (p.Lys23051Asn)
c.95196A>C (p.Lys31732Asn)
c.90594A>C (p.Lys30198Asn)
c.90591A>C (p.Lys30197Asn)
c.87633A>C (p.Lys29211Asn)
c.69249A>C (p.Lys23083Asn)
c.90744A>C (p.Lys30248Asn)
c.90741A>C (p.Lys30247Asn)
c.90174A>C (p.Lys30058Asn)
c.87516A>C (p.Lys29172Asn)
c.87435A>C (p.Lys29145Asn)
c.69198A>C (p.Lys23066Asn)
c.59052A>C (p.Lys19684Asn)
2g.178543843dupCA1139657377TTN,TTN-AS1c.88599dup (p.Val29534SerfsTer3)
c.69684dup (p.Val23229SerfsTer3)
c.69483dup (p.Val23162SerfsTer3)
c.69108dup (p.Val23037SerfsTer3)
c.96303dup (p.Val32102SerfsTer3)
c.91380dup (p.Val30461SerfsTer3)
n.446+20207dup
n.2043+1482dup
c.95400dup (p.Val31801SerfsTer3)
c.69294dup (p.Val23099SerfsTer3)
c.69153dup (p.Val23052SerfsTer3)
c.95196dup (p.Val31733SerfsTer3)
c.90594dup (p.Val30199SerfsTer3)
c.90591dup (p.Val30198SerfsTer3)
c.87633dup (p.Val29212SerfsTer3)
c.69249dup (p.Val23084SerfsTer3)
c.90744dup (p.Val30249SerfsTer3)
c.90741dup (p.Val30248SerfsTer3)
c.90174dup (p.Val30059SerfsTer3)
c.87516dup (p.Val29173SerfsTer3)
c.87435dup (p.Val29146SerfsTer3)
c.69198dup (p.Val23067SerfsTer3)
c.59052dup (p.Val19685SerfsTer3)
 ClinVar dbSNP
2g.178543842T>ACA349450265TTN,TTN-AS1c.88598A>T (p.Lys29533Ile)
c.69683A>T (p.Lys23228Ile)
c.69482A>T (p.Lys23161Ile)
c.69107A>T (p.Lys23036Ile)
c.96302A>T (p.Lys32101Ile)
c.91379A>T (p.Lys30460Ile)
n.446+20206T>A
n.2043+1481T>A
c.95399A>T (p.Lys31800Ile)
c.69293A>T (p.Lys23098Ile)
c.69152A>T (p.Lys23051Ile)
c.95195A>T (p.Lys31732Ile)
c.90593A>T (p.Lys30198Ile)
c.90590A>T (p.Lys30197Ile)
c.87632A>T (p.Lys29211Ile)
c.69248A>T (p.Lys23083Ile)
c.90743A>T (p.Lys30248Ile)
c.90740A>T (p.Lys30247Ile)
c.90173A>T (p.Lys30058Ile)
c.87515A>T (p.Lys29172Ile)
c.87434A>T (p.Lys29145Ile)
c.69197A>T (p.Lys23066Ile)
c.59051A>T (p.Lys19684Ile)
2g.178543842T>CCA349450267TTN,TTN-AS1c.88598A>G (p.Lys29533Arg)
c.69683A>G (p.Lys23228Arg)
c.69482A>G (p.Lys23161Arg)
c.69107A>G (p.Lys23036Arg)
c.96302A>G (p.Lys32101Arg)
c.91379A>G (p.Lys30460Arg)
n.446+20206T>C
n.2043+1481T>C
c.95399A>G (p.Lys31800Arg)
c.69293A>G (p.Lys23098Arg)
c.69152A>G (p.Lys23051Arg)
c.95195A>G (p.Lys31732Arg)
c.90593A>G (p.Lys30198Arg)
c.90590A>G (p.Lys30197Arg)
c.87632A>G (p.Lys29211Arg)
c.69248A>G (p.Lys23083Arg)
c.90743A>G (p.Lys30248Arg)
c.90740A>G (p.Lys30247Arg)
c.90173A>G (p.Lys30058Arg)
c.87515A>G (p.Lys29172Arg)
c.87434A>G (p.Lys29145Arg)
c.69197A>G (p.Lys23066Arg)
c.59051A>G (p.Lys19684Arg)
2g.178543842T>GCA349450287TTN,TTN-AS1c.88598A>C (p.Lys29533Thr)
c.69683A>C (p.Lys23228Thr)
c.69482A>C (p.Lys23161Thr)
c.69107A>C (p.Lys23036Thr)
c.96302A>C (p.Lys32101Thr)
c.91379A>C (p.Lys30460Thr)
n.446+20206T>G
n.2043+1481T>G
c.95399A>C (p.Lys31800Thr)
c.69293A>C (p.Lys23098Thr)
c.69152A>C (p.Lys23051Thr)
c.95195A>C (p.Lys31732Thr)
c.90593A>C (p.Lys30198Thr)
c.90590A>C (p.Lys30197Thr)
c.87632A>C (p.Lys29211Thr)
c.69248A>C (p.Lys23083Thr)
c.90743A>C (p.Lys30248Thr)
c.90740A>C (p.Lys30247Thr)
c.90173A>C (p.Lys30058Thr)
c.87515A>C (p.Lys29172Thr)
c.87434A>C (p.Lys29145Thr)
c.69197A>C (p.Lys23066Thr)
c.59051A>C (p.Lys19684Thr)
2g.178543843T>ACA349450299TTN,TTN-AS1c.88597A>T (p.Lys29533Ter)
c.69682A>T (p.Lys23228Ter)
c.69481A>T (p.Lys23161Ter)
c.69106A>T (p.Lys23036Ter)
c.96301A>T (p.Lys32101Ter)
c.91378A>T (p.Lys30460Ter)
n.446+20207T>A
n.2043+1482T>A
c.95398A>T (p.Lys31800Ter)
c.69292A>T (p.Lys23098Ter)
c.69151A>T (p.Lys23051Ter)
c.95194A>T (p.Lys31732Ter)
c.90592A>T (p.Lys30198Ter)
c.90589A>T (p.Lys30197Ter)
c.87631A>T (p.Lys29211Ter)
c.69247A>T (p.Lys23083Ter)
c.90742A>T (p.Lys30248Ter)
c.90739A>T (p.Lys30247Ter)
c.90172A>T (p.Lys30058Ter)
c.87514A>T (p.Lys29172Ter)
c.87433A>T (p.Lys29145Ter)
c.69196A>T (p.Lys23066Ter)
c.59050A>T (p.Lys19684Ter)
2g.178543843T>CCA349450304TTN,TTN-AS1c.88597A>G (p.Lys29533Glu)
c.69682A>G (p.Lys23228Glu)
c.69481A>G (p.Lys23161Glu)
c.69106A>G (p.Lys23036Glu)
c.96301A>G (p.Lys32101Glu)
c.91378A>G (p.Lys30460Glu)
n.446+20207T>C
n.2043+1482T>C
c.95398A>G (p.Lys31800Glu)
c.69292A>G (p.Lys23098Glu)
c.69151A>G (p.Lys23051Glu)
c.95194A>G (p.Lys31732Glu)
c.90592A>G (p.Lys30198Glu)
c.90589A>G (p.Lys30197Glu)
c.87631A>G (p.Lys29211Glu)
c.69247A>G (p.Lys23083Glu)
c.90742A>G (p.Lys30248Glu)
c.90739A>G (p.Lys30247Glu)
c.90172A>G (p.Lys30058Glu)
c.87514A>G (p.Lys29172Glu)
c.87433A>G (p.Lys29145Glu)
c.69196A>G (p.Lys23066Glu)
c.59050A>G (p.Lys19684Glu)
2g.178543843T>GCA349450308TTN,TTN-AS1c.88597A>C (p.Lys29533Gln)
c.69682A>C (p.Lys23228Gln)
c.69481A>C (p.Lys23161Gln)
c.69106A>C (p.Lys23036Gln)
c.96301A>C (p.Lys32101Gln)
c.91378A>C (p.Lys30460Gln)
n.446+20207T>G
n.2043+1482T>G
c.95398A>C (p.Lys31800Gln)
c.69292A>C (p.Lys23098Gln)
c.69151A>C (p.Lys23051Gln)
c.95194A>C (p.Lys31732Gln)
c.90592A>C (p.Lys30198Gln)
c.90589A>C (p.Lys30197Gln)
c.87631A>C (p.Lys29211Gln)
c.69247A>C (p.Lys23083Gln)
c.90742A>C (p.Lys30248Gln)
c.90739A>C (p.Lys30247Gln)
c.90172A>C (p.Lys30058Gln)
c.87514A>C (p.Lys29172Gln)
c.87433A>C (p.Lys29145Gln)
c.69196A>C (p.Lys23066Gln)
c.59050A>C (p.Lys19684Gln)
2g.178543844A>CCA430241404TTN,TTN-AS1c.88596T>G (p.Val29532=)
c.69681T>G (p.Val23227=)
c.69480T>G (p.Val23160=)
c.69105T>G (p.Val23035=)
c.96300T>G (p.Val32100=)
c.91377T>G (p.Val30459=)
n.446+20208A>C
n.2043+1483A>C
c.95397T>G (p.Val31799=)
c.69291T>G (p.Val23097=)
c.69150T>G (p.Val23050=)
c.95193T>G (p.Val31731=)
c.90591T>G (p.Val30197=)
c.90588T>G (p.Val30196=)
c.87630T>G (p.Val29210=)
c.69246T>G (p.Val23082=)
c.90741T>G (p.Val30247=)
c.90738T>G (p.Val30246=)
c.90171T>G (p.Val30057=)
c.87513T>G (p.Val29171=)
c.87432T>G (p.Val29144=)
c.69195T>G (p.Val23065=)
c.59049T>G (p.Val19683=)
2g.178543844A>GCA430241406TTN,TTN-AS1c.88596T>C (p.Val29532=)
c.69681T>C (p.Val23227=)
c.69480T>C (p.Val23160=)
c.69105T>C (p.Val23035=)
c.96300T>C (p.Val32100=)
c.91377T>C (p.Val30459=)
n.446+20208A>G
n.2043+1483A>G
c.95397T>C (p.Val31799=)
c.69291T>C (p.Val23097=)
c.69150T>C (p.Val23050=)
c.95193T>C (p.Val31731=)
c.90591T>C (p.Val30197=)
c.90588T>C (p.Val30196=)
c.87630T>C (p.Val29210=)
c.69246T>C (p.Val23082=)
c.90741T>C (p.Val30247=)
c.90738T>C (p.Val30246=)
c.90171T>C (p.Val30057=)
c.87513T>C (p.Val29171=)
c.87432T>C (p.Val29144=)
c.69195T>C (p.Val23065=)
c.59049T>C (p.Val19683=)
2g.178543844A>TCA430241408TTN,TTN-AS1c.88596T>A (p.Val29532=)
c.69681T>A (p.Val23227=)
c.69480T>A (p.Val23160=)
c.69105T>A (p.Val23035=)
c.96300T>A (p.Val32100=)
c.91377T>A (p.Val30459=)
n.446+20208A>T
n.2043+1483A>T
c.95397T>A (p.Val31799=)
c.69291T>A (p.Val23097=)
c.69150T>A (p.Val23050=)
c.95193T>A (p.Val31731=)
c.90591T>A (p.Val30197=)
c.90588T>A (p.Val30196=)
c.87630T>A (p.Val29210=)
c.69246T>A (p.Val23082=)
c.90741T>A (p.Val30247=)
c.90738T>A (p.Val30246=)
c.90171T>A (p.Val30057=)
c.87513T>A (p.Val29171=)
c.87432T>A (p.Val29144=)
c.69195T>A (p.Val23065=)
c.59049T>A (p.Val19683=)
2g.178543845A=CA1310521117TTN,TTN-AS1c.88595T= (p.Val29532=)
c.69680T= (p.Val23227=)
c.69479T= (p.Val23160=)
c.69104T= (p.Val23035=)
c.96299T= (p.Val32100=)
c.91376T= (p.Val30459=)
n.446+20209A=
n.2043+1484A=
c.95396T= (p.Val31799=)
c.69290T= (p.Val23097=)
c.69149T= (p.Val23050=)
c.95192T= (p.Val31731=)
c.90590T= (p.Val30197=)
c.90587T= (p.Val30196=)
c.87629T= (p.Val29210=)
c.69245T= (p.Val23082=)
c.90740T= (p.Val30247=)
c.90737T= (p.Val30246=)
c.90170T= (p.Val30057=)
c.87512T= (p.Val29171=)
c.87431T= (p.Val29144=)
c.69194T= (p.Val23065=)
c.59048T= (p.Val19683=)
2g.178543845A>CCA349450312TTN,TTN-AS1c.88595T>G (p.Val29532Gly)
c.69680T>G (p.Val23227Gly)
c.69479T>G (p.Val23160Gly)
c.69104T>G (p.Val23035Gly)
c.96299T>G (p.Val32100Gly)
c.91376T>G (p.Val30459Gly)
n.446+20209A>C
n.2043+1484A>C
c.95396T>G (p.Val31799Gly)
c.69290T>G (p.Val23097Gly)
c.69149T>G (p.Val23050Gly)
c.95192T>G (p.Val31731Gly)
c.90590T>G (p.Val30197Gly)
c.90587T>G (p.Val30196Gly)
c.87629T>G (p.Val29210Gly)
c.69245T>G (p.Val23082Gly)
c.90740T>G (p.Val30247Gly)
c.90737T>G (p.Val30246Gly)
c.90170T>G (p.Val30057Gly)
c.87512T>G (p.Val29171Gly)
c.87431T>G (p.Val29144Gly)
c.69194T>G (p.Val23065Gly)
c.59048T>G (p.Val19683Gly)
2g.178543845A>GCA311001TTN,TTN-AS1c.88595T>C (p.Val29532Ala)
c.69680T>C (p.Val23227Ala)
c.69479T>C (p.Val23160Ala)
c.69104T>C (p.Val23035Ala)
c.96299T>C (p.Val32100Ala)
c.91376T>C (p.Val30459Ala)
n.446+20209A>G
n.2043+1484A>G
c.95396T>C (p.Val31799Ala)
c.69290T>C (p.Val23097Ala)
c.69149T>C (p.Val23050Ala)
c.95192T>C (p.Val31731Ala)
c.90590T>C (p.Val30197Ala)
c.90587T>C (p.Val30196Ala)
c.87629T>C (p.Val29210Ala)
c.69245T>C (p.Val23082Ala)
c.90740T>C (p.Val30247Ala)
c.90737T>C (p.Val30246Ala)
c.90170T>C (p.Val30057Ala)
c.87512T>C (p.Val29171Ala)
c.87431T>C (p.Val29144Ala)
c.69194T>C (p.Val23065Ala)
c.59048T>C (p.Val19683Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543845A>TCA349450315TTN,TTN-AS1c.88595T>A (p.Val29532Asp)
c.69680T>A (p.Val23227Asp)
c.69479T>A (p.Val23160Asp)
c.69104T>A (p.Val23035Asp)
c.96299T>A (p.Val32100Asp)
c.91376T>A (p.Val30459Asp)
n.446+20209A>T
n.2043+1484A>T
c.95396T>A (p.Val31799Asp)
c.69290T>A (p.Val23097Asp)
c.69149T>A (p.Val23050Asp)
c.95192T>A (p.Val31731Asp)
c.90590T>A (p.Val30197Asp)
c.90587T>A (p.Val30196Asp)
c.87629T>A (p.Val29210Asp)
c.69245T>A (p.Val23082Asp)
c.90740T>A (p.Val30247Asp)
c.90737T>A (p.Val30246Asp)
c.90170T>A (p.Val30057Asp)
c.87512T>A (p.Val29171Asp)
c.87431T>A (p.Val29144Asp)
c.69194T>A (p.Val23065Asp)
c.59048T>A (p.Val19683Asp)
2g.178543846C>ACA1986786TTN,TTN-AS1c.88594G>T (p.Val29532Phe)
c.69679G>T (p.Val23227Phe)
c.69478G>T (p.Val23160Phe)
c.69103G>T (p.Val23035Phe)
c.96298G>T (p.Val32100Phe)
c.91375G>T (p.Val30459Phe)
n.446+20210C>A
n.2043+1485C>A
c.95395G>T (p.Val31799Phe)
c.69289G>T (p.Val23097Phe)
c.69148G>T (p.Val23050Phe)
c.95191G>T (p.Val31731Phe)
c.90589G>T (p.Val30197Phe)
c.90586G>T (p.Val30196Phe)
c.87628G>T (p.Val29210Phe)
c.69244G>T (p.Val23082Phe)
c.90739G>T (p.Val30247Phe)
c.90736G>T (p.Val30246Phe)
c.90169G>T (p.Val30057Phe)
c.87511G>T (p.Val29171Phe)
c.87430G>T (p.Val29144Phe)
c.69193G>T (p.Val23065Phe)
c.59047G>T (p.Val19683Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543846C=CA1310521119TTN,TTN-AS1c.88594G= (p.Val29532=)
c.69679G= (p.Val23227=)
c.69478G= (p.Val23160=)
c.69103G= (p.Val23035=)
c.96298G= (p.Val32100=)
c.91375G= (p.Val30459=)
n.446+20210C=
n.2043+1485C=
c.95395G= (p.Val31799=)
c.69289G= (p.Val23097=)
c.69148G= (p.Val23050=)
c.95191G= (p.Val31731=)
c.90589G= (p.Val30197=)
c.90586G= (p.Val30196=)
c.87628G= (p.Val29210=)
c.69244G= (p.Val23082=)
c.90739G= (p.Val30247=)
c.90736G= (p.Val30246=)
c.90169G= (p.Val30057=)
c.87511G= (p.Val29171=)
c.87430G= (p.Val29144=)
c.69193G= (p.Val23065=)
c.59047G= (p.Val19683=)
2g.178543846C>GCA349450324TTN,TTN-AS1c.88594G>C (p.Val29532Leu)
c.69679G>C (p.Val23227Leu)
c.69478G>C (p.Val23160Leu)
c.69103G>C (p.Val23035Leu)
c.96298G>C (p.Val32100Leu)
c.91375G>C (p.Val30459Leu)
n.446+20210C>G
n.2043+1485C>G
c.95395G>C (p.Val31799Leu)
c.69289G>C (p.Val23097Leu)
c.69148G>C (p.Val23050Leu)
c.95191G>C (p.Val31731Leu)
c.90589G>C (p.Val30197Leu)
c.90586G>C (p.Val30196Leu)
c.87628G>C (p.Val29210Leu)
c.69244G>C (p.Val23082Leu)
c.90739G>C (p.Val30247Leu)
c.90736G>C (p.Val30246Leu)
c.90169G>C (p.Val30057Leu)
c.87511G>C (p.Val29171Leu)
c.87430G>C (p.Val29144Leu)
c.69193G>C (p.Val23065Leu)
c.59047G>C (p.Val19683Leu)
 gnomAD v4
2g.178543846C>TCA349450317TTN,TTN-AS1c.88594G>A (p.Val29532Ile)
c.69679G>A (p.Val23227Ile)
c.69478G>A (p.Val23160Ile)
c.69103G>A (p.Val23035Ile)
c.96298G>A (p.Val32100Ile)
c.91375G>A (p.Val30459Ile)
n.446+20210C>T
n.2043+1485C>T
c.95395G>A (p.Val31799Ile)
c.69289G>A (p.Val23097Ile)
c.69148G>A (p.Val23050Ile)
c.95191G>A (p.Val31731Ile)
c.90589G>A (p.Val30197Ile)
c.90586G>A (p.Val30196Ile)
c.87628G>A (p.Val29210Ile)
c.69244G>A (p.Val23082Ile)
c.90739G>A (p.Val30247Ile)
c.90736G>A (p.Val30246Ile)
c.90169G>A (p.Val30057Ile)
c.87511G>A (p.Val29171Ile)
c.87430G>A (p.Val29144Ile)
c.69193G>A (p.Val23065Ile)
c.59047G>A (p.Val19683Ile)
2g.178543847A=CA1310521121TTN,TTN-AS1c.88593T= (p.Leu29531=)
c.69678T= (p.Leu23226=)
c.69477T= (p.Leu23159=)
c.69102T= (p.Leu23034=)
c.96297T= (p.Leu32099=)
c.91374T= (p.Leu30458=)
n.446+20211A=
n.2043+1486A=
c.95394T= (p.Leu31798=)
c.69288T= (p.Leu23096=)
c.69147T= (p.Leu23049=)
c.95190T= (p.Leu31730=)
c.90588T= (p.Leu30196=)
c.90585T= (p.Leu30195=)
c.87627T= (p.Leu29209=)
c.69243T= (p.Leu23081=)
c.90738T= (p.Leu30246=)
c.90735T= (p.Leu30245=)
c.90168T= (p.Leu30056=)
c.87510T= (p.Leu29170=)
c.87429T= (p.Leu29143=)
c.69192T= (p.Leu23064=)
c.59046T= (p.Leu19682=)
2g.178543847A>CCA430241417TTN,TTN-AS1c.88593T>G (p.Leu29531=)
c.69678T>G (p.Leu23226=)
c.69477T>G (p.Leu23159=)
c.69102T>G (p.Leu23034=)
c.96297T>G (p.Leu32099=)
c.91374T>G (p.Leu30458=)
n.446+20211A>C
n.2043+1486A>C
c.95394T>G (p.Leu31798=)
c.69288T>G (p.Leu23096=)
c.69147T>G (p.Leu23049=)
c.95190T>G (p.Leu31730=)
c.90588T>G (p.Leu30196=)
c.90585T>G (p.Leu30195=)
c.87627T>G (p.Leu29209=)
c.69243T>G (p.Leu23081=)
c.90738T>G (p.Leu30246=)
c.90735T>G (p.Leu30245=)
c.90168T>G (p.Leu30056=)
c.87510T>G (p.Leu29170=)
c.87429T>G (p.Leu29143=)
c.69192T>G (p.Leu23064=)
c.59046T>G (p.Leu19682=)
2g.178543847A>GCA1986787TTN,TTN-AS1c.88593T>C (p.Leu29531=)
c.69678T>C (p.Leu23226=)
c.69477T>C (p.Leu23159=)
c.69102T>C (p.Leu23034=)
c.96297T>C (p.Leu32099=)
c.91374T>C (p.Leu30458=)
n.446+20211A>G
n.2043+1486A>G
c.95394T>C (p.Leu31798=)
c.69288T>C (p.Leu23096=)
c.69147T>C (p.Leu23049=)
c.95190T>C (p.Leu31730=)
c.90588T>C (p.Leu30196=)
c.90585T>C (p.Leu30195=)
c.87627T>C (p.Leu29209=)
c.69243T>C (p.Leu23081=)
c.90738T>C (p.Leu30246=)
c.90735T>C (p.Leu30245=)
c.90168T>C (p.Leu30056=)
c.87510T>C (p.Leu29170=)
c.87429T>C (p.Leu29143=)
c.69192T>C (p.Leu23064=)
c.59046T>C (p.Leu19682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543847A>TCA430241418TTN,TTN-AS1c.88593T>A (p.Leu29531=)
c.69678T>A (p.Leu23226=)
c.69477T>A (p.Leu23159=)
c.69102T>A (p.Leu23034=)
c.96297T>A (p.Leu32099=)
c.91374T>A (p.Leu30458=)
n.446+20211A>T
n.2043+1486A>T
c.95394T>A (p.Leu31798=)
c.69288T>A (p.Leu23096=)
c.69147T>A (p.Leu23049=)
c.95190T>A (p.Leu31730=)
c.90588T>A (p.Leu30196=)
c.90585T>A (p.Leu30195=)
c.87627T>A (p.Leu29209=)
c.69243T>A (p.Leu23081=)
c.90738T>A (p.Leu30246=)
c.90735T>A (p.Leu30245=)
c.90168T>A (p.Leu30056=)
c.87510T>A (p.Leu29170=)
c.87429T>A (p.Leu29143=)
c.69192T>A (p.Leu23064=)
c.59046T>A (p.Leu19682=)
2g.178543848A>CCA349450339TTN,TTN-AS1c.88592T>G (p.Leu29531Arg)
c.69677T>G (p.Leu23226Arg)
c.69476T>G (p.Leu23159Arg)
c.69101T>G (p.Leu23034Arg)
c.96296T>G (p.Leu32099Arg)
c.91373T>G (p.Leu30458Arg)
n.446+20212A>C
n.2043+1487A>C
c.95393T>G (p.Leu31798Arg)
c.69287T>G (p.Leu23096Arg)
c.69146T>G (p.Leu23049Arg)
c.95189T>G (p.Leu31730Arg)
c.90587T>G (p.Leu30196Arg)
c.90584T>G (p.Leu30195Arg)
c.87626T>G (p.Leu29209Arg)
c.69242T>G (p.Leu23081Arg)
c.90737T>G (p.Leu30246Arg)
c.90734T>G (p.Leu30245Arg)
c.90167T>G (p.Leu30056Arg)
c.87509T>G (p.Leu29170Arg)
c.87428T>G (p.Leu29143Arg)
c.69191T>G (p.Leu23064Arg)
c.59045T>G (p.Leu19682Arg)
2g.178543848A>GCA349450340TTN,TTN-AS1c.88592T>C (p.Leu29531Pro)
c.69677T>C (p.Leu23226Pro)
c.69476T>C (p.Leu23159Pro)
c.69101T>C (p.Leu23034Pro)
c.96296T>C (p.Leu32099Pro)
c.91373T>C (p.Leu30458Pro)
n.446+20212A>G
n.2043+1487A>G
c.95393T>C (p.Leu31798Pro)
c.69287T>C (p.Leu23096Pro)
c.69146T>C (p.Leu23049Pro)
c.95189T>C (p.Leu31730Pro)
c.90587T>C (p.Leu30196Pro)
c.90584T>C (p.Leu30195Pro)
c.87626T>C (p.Leu29209Pro)
c.69242T>C (p.Leu23081Pro)
c.90737T>C (p.Leu30246Pro)
c.90734T>C (p.Leu30245Pro)
c.90167T>C (p.Leu30056Pro)
c.87509T>C (p.Leu29170Pro)
c.87428T>C (p.Leu29143Pro)
c.69191T>C (p.Leu23064Pro)
c.59045T>C (p.Leu19682Pro)
 COSMIC COSMIC COSMIC COSMIC
2g.178543848A>TCA349450341TTN,TTN-AS1c.88592T>A (p.Leu29531His)
c.69677T>A (p.Leu23226His)
c.69476T>A (p.Leu23159His)
c.69101T>A (p.Leu23034His)
c.96296T>A (p.Leu32099His)
c.91373T>A (p.Leu30458His)
n.446+20212A>T
n.2043+1487A>T
c.95393T>A (p.Leu31798His)
c.69287T>A (p.Leu23096His)
c.69146T>A (p.Leu23049His)
c.95189T>A (p.Leu31730His)
c.90587T>A (p.Leu30196His)
c.90584T>A (p.Leu30195His)
c.87626T>A (p.Leu29209His)
c.69242T>A (p.Leu23081His)
c.90737T>A (p.Leu30246His)
c.90734T>A (p.Leu30245His)
c.90167T>A (p.Leu30056His)
c.87509T>A (p.Leu29170His)
c.87428T>A (p.Leu29143His)
c.69191T>A (p.Leu23064His)
c.59045T>A (p.Leu19682His)
2g.178543849G>ACA349450342TTN,TTN-AS1c.88591C>T (p.Leu29531Phe)
c.69676C>T (p.Leu23226Phe)
c.69475C>T (p.Leu23159Phe)
c.69100C>T (p.Leu23034Phe)
c.96295C>T (p.Leu32099Phe)
c.91372C>T (p.Leu30458Phe)
n.446+20213G>A
n.2043+1488G>A
c.95392C>T (p.Leu31798Phe)
c.69286C>T (p.Leu23096Phe)
c.69145C>T (p.Leu23049Phe)
c.95188C>T (p.Leu31730Phe)
c.90586C>T (p.Leu30196Phe)
c.90583C>T (p.Leu30195Phe)
c.87625C>T (p.Leu29209Phe)
c.69241C>T (p.Leu23081Phe)
c.90736C>T (p.Leu30246Phe)
c.90733C>T (p.Leu30245Phe)
c.90166C>T (p.Leu30056Phe)
c.87508C>T (p.Leu29170Phe)
c.87427C>T (p.Leu29143Phe)
c.69190C>T (p.Leu23064Phe)
c.59044C>T (p.Leu19682Phe)
2g.178543849G>CCA349450345TTN,TTN-AS1c.88591C>G (p.Leu29531Val)
c.69676C>G (p.Leu23226Val)
c.69475C>G (p.Leu23159Val)
c.69100C>G (p.Leu23034Val)
c.96295C>G (p.Leu32099Val)
c.91372C>G (p.Leu30458Val)
n.446+20213G>C
n.2043+1488G>C
c.95392C>G (p.Leu31798Val)
c.69286C>G (p.Leu23096Val)
c.69145C>G (p.Leu23049Val)
c.95188C>G (p.Leu31730Val)
c.90586C>G (p.Leu30196Val)
c.90583C>G (p.Leu30195Val)
c.87625C>G (p.Leu29209Val)
c.69241C>G (p.Leu23081Val)
c.90736C>G (p.Leu30246Val)
c.90733C>G (p.Leu30245Val)
c.90166C>G (p.Leu30056Val)
c.87508C>G (p.Leu29170Val)
c.87427C>G (p.Leu29143Val)
c.69190C>G (p.Leu23064Val)
c.59044C>G (p.Leu19682Val)
2g.178543849G>TCA349450349TTN,TTN-AS1c.88591C>A (p.Leu29531Ile)
c.69676C>A (p.Leu23226Ile)
c.69475C>A (p.Leu23159Ile)
c.69100C>A (p.Leu23034Ile)
c.96295C>A (p.Leu32099Ile)
c.91372C>A (p.Leu30458Ile)
n.446+20213G>T
n.2043+1488G>T
c.95392C>A (p.Leu31798Ile)
c.69286C>A (p.Leu23096Ile)
c.69145C>A (p.Leu23049Ile)
c.95188C>A (p.Leu31730Ile)
c.90586C>A (p.Leu30196Ile)
c.90583C>A (p.Leu30195Ile)
c.87625C>A (p.Leu29209Ile)
c.69241C>A (p.Leu23081Ile)
c.90736C>A (p.Leu30246Ile)
c.90733C>A (p.Leu30245Ile)
c.90166C>A (p.Leu30056Ile)
c.87508C>A (p.Leu29170Ile)
c.87427C>A (p.Leu29143Ile)
c.69190C>A (p.Leu23064Ile)
c.59044C>A (p.Leu19682Ile)
2g.178543850G>ACA430241428TTN,TTN-AS1c.88590C>T (p.Val29530=)
c.69675C>T (p.Val23225=)
c.69474C>T (p.Val23158=)
c.69099C>T (p.Val23033=)
c.96294C>T (p.Val32098=)
c.91371C>T (p.Val30457=)
n.446+20214G>A
n.2043+1489G>A
c.95391C>T (p.Val31797=)
c.69285C>T (p.Val23095=)
c.69144C>T (p.Val23048=)
c.95187C>T (p.Val31729=)
c.90585C>T (p.Val30195=)
c.90582C>T (p.Val30194=)
c.87624C>T (p.Val29208=)
c.69240C>T (p.Val23080=)
c.90735C>T (p.Val30245=)
c.90732C>T (p.Val30244=)
c.90165C>T (p.Val30055=)
c.87507C>T (p.Val29169=)
c.87426C>T (p.Val29142=)
c.69189C>T (p.Val23063=)
c.59043C>T (p.Val19681=)
 ClinVar
2g.178543850G>CCA430241432TTN,TTN-AS1c.88590C>G (p.Val29530=)
c.69675C>G (p.Val23225=)
c.69474C>G (p.Val23158=)
c.69099C>G (p.Val23033=)
c.96294C>G (p.Val32098=)
c.91371C>G (p.Val30457=)
n.446+20214G>C
n.2043+1489G>C
c.95391C>G (p.Val31797=)
c.69285C>G (p.Val23095=)
c.69144C>G (p.Val23048=)
c.95187C>G (p.Val31729=)
c.90585C>G (p.Val30195=)
c.90582C>G (p.Val30194=)
c.87624C>G (p.Val29208=)
c.69240C>G (p.Val23080=)
c.90735C>G (p.Val30245=)
c.90732C>G (p.Val30244=)
c.90165C>G (p.Val30055=)
c.87507C>G (p.Val29169=)
c.87426C>G (p.Val29142=)
c.69189C>G (p.Val23063=)
c.59043C>G (p.Val19681=)
2g.178543850G>TCA430241431TTN,TTN-AS1c.88590C>A (p.Val29530=)
c.69675C>A (p.Val23225=)
c.69474C>A (p.Val23158=)
c.69099C>A (p.Val23033=)
c.96294C>A (p.Val32098=)
c.91371C>A (p.Val30457=)
n.446+20214G>T
n.2043+1489G>T
c.95391C>A (p.Val31797=)
c.69285C>A (p.Val23095=)
c.69144C>A (p.Val23048=)
c.95187C>A (p.Val31729=)
c.90585C>A (p.Val30195=)
c.90582C>A (p.Val30194=)
c.87624C>A (p.Val29208=)
c.69240C>A (p.Val23080=)
c.90735C>A (p.Val30245=)
c.90732C>A (p.Val30244=)
c.90165C>A (p.Val30055=)
c.87507C>A (p.Val29169=)
c.87426C>A (p.Val29142=)
c.69189C>A (p.Val23063=)
c.59043C>A (p.Val19681=)
2g.178543851A>CCA349450354TTN,TTN-AS1c.88589T>G (p.Val29530Gly)
c.69674T>G (p.Val23225Gly)
c.69473T>G (p.Val23158Gly)
c.69098T>G (p.Val23033Gly)
c.96293T>G (p.Val32098Gly)
c.91370T>G (p.Val30457Gly)
n.446+20215A>C
n.2043+1490A>C
c.95390T>G (p.Val31797Gly)
c.69284T>G (p.Val23095Gly)
c.69143T>G (p.Val23048Gly)
c.95186T>G (p.Val31729Gly)
c.90584T>G (p.Val30195Gly)
c.90581T>G (p.Val30194Gly)
c.87623T>G (p.Val29208Gly)
c.69239T>G (p.Val23080Gly)
c.90734T>G (p.Val30245Gly)
c.90731T>G (p.Val30244Gly)
c.90164T>G (p.Val30055Gly)
c.87506T>G (p.Val29169Gly)
c.87425T>G (p.Val29142Gly)
c.69188T>G (p.Val23063Gly)
c.59042T>G (p.Val19681Gly)
2g.178543851A>GCA349450363TTN,TTN-AS1c.88589T>C (p.Val29530Ala)
c.69674T>C (p.Val23225Ala)
c.69473T>C (p.Val23158Ala)
c.69098T>C (p.Val23033Ala)
c.96293T>C (p.Val32098Ala)
c.91370T>C (p.Val30457Ala)
n.446+20215A>G
n.2043+1490A>G
c.95390T>C (p.Val31797Ala)
c.69284T>C (p.Val23095Ala)
c.69143T>C (p.Val23048Ala)
c.95186T>C (p.Val31729Ala)
c.90584T>C (p.Val30195Ala)
c.90581T>C (p.Val30194Ala)
c.87623T>C (p.Val29208Ala)
c.69239T>C (p.Val23080Ala)
c.90734T>C (p.Val30245Ala)
c.90731T>C (p.Val30244Ala)
c.90164T>C (p.Val30055Ala)
c.87506T>C (p.Val29169Ala)
c.87425T>C (p.Val29142Ala)
c.69188T>C (p.Val23063Ala)
c.59042T>C (p.Val19681Ala)
2g.178543851A>TCA349450370TTN,TTN-AS1c.88589T>A (p.Val29530Asp)
c.69674T>A (p.Val23225Asp)
c.69473T>A (p.Val23158Asp)
c.69098T>A (p.Val23033Asp)
c.96293T>A (p.Val32098Asp)
c.91370T>A (p.Val30457Asp)
n.446+20215A>T
n.2043+1490A>T
c.95390T>A (p.Val31797Asp)
c.69284T>A (p.Val23095Asp)
c.69143T>A (p.Val23048Asp)
c.95186T>A (p.Val31729Asp)
c.90584T>A (p.Val30195Asp)
c.90581T>A (p.Val30194Asp)
c.87623T>A (p.Val29208Asp)
c.69239T>A (p.Val23080Asp)
c.90734T>A (p.Val30245Asp)
c.90731T>A (p.Val30244Asp)
c.90164T>A (p.Val30055Asp)
c.87506T>A (p.Val29169Asp)
c.87425T>A (p.Val29142Asp)
c.69188T>A (p.Val23063Asp)
c.59042T>A (p.Val19681Asp)
2g.178543852C>ACA349450373TTN,TTN-AS1c.88588G>T (p.Val29530Phe)
c.69673G>T (p.Val23225Phe)
c.69472G>T (p.Val23158Phe)
c.69097G>T (p.Val23033Phe)
c.96292G>T (p.Val32098Phe)
c.91369G>T (p.Val30457Phe)
n.446+20216C>A
n.2043+1491C>A
c.95389G>T (p.Val31797Phe)
c.69283G>T (p.Val23095Phe)
c.69142G>T (p.Val23048Phe)
c.95185G>T (p.Val31729Phe)
c.90583G>T (p.Val30195Phe)
c.90580G>T (p.Val30194Phe)
c.87622G>T (p.Val29208Phe)
c.69238G>T (p.Val23080Phe)
c.90733G>T (p.Val30245Phe)
c.90730G>T (p.Val30244Phe)
c.90163G>T (p.Val30055Phe)
c.87505G>T (p.Val29169Phe)
c.87424G>T (p.Val29142Phe)
c.69187G>T (p.Val23063Phe)
c.59041G>T (p.Val19681Phe)
2g.178543852C>GCA349450380TTN,TTN-AS1c.88588G>C (p.Val29530Leu)
c.69673G>C (p.Val23225Leu)
c.69472G>C (p.Val23158Leu)
c.69097G>C (p.Val23033Leu)
c.96292G>C (p.Val32098Leu)
c.91369G>C (p.Val30457Leu)
n.446+20216C>G
n.2043+1491C>G
c.95389G>C (p.Val31797Leu)
c.69283G>C (p.Val23095Leu)
c.69142G>C (p.Val23048Leu)
c.95185G>C (p.Val31729Leu)
c.90583G>C (p.Val30195Leu)
c.90580G>C (p.Val30194Leu)
c.87622G>C (p.Val29208Leu)
c.69238G>C (p.Val23080Leu)
c.90733G>C (p.Val30245Leu)
c.90730G>C (p.Val30244Leu)
c.90163G>C (p.Val30055Leu)
c.87505G>C (p.Val29169Leu)
c.87424G>C (p.Val29142Leu)
c.69187G>C (p.Val23063Leu)
c.59041G>C (p.Val19681Leu)
2g.178543852C>TCA349450384TTN,TTN-AS1c.88588G>A (p.Val29530Ile)
c.69673G>A (p.Val23225Ile)
c.69472G>A (p.Val23158Ile)
c.69097G>A (p.Val23033Ile)
c.96292G>A (p.Val32098Ile)
c.91369G>A (p.Val30457Ile)
n.446+20216C>T
n.2043+1491C>T
c.95389G>A (p.Val31797Ile)
c.69283G>A (p.Val23095Ile)
c.69142G>A (p.Val23048Ile)
c.95185G>A (p.Val31729Ile)
c.90583G>A (p.Val30195Ile)
c.90580G>A (p.Val30194Ile)
c.87622G>A (p.Val29208Ile)
c.69238G>A (p.Val23080Ile)
c.90733G>A (p.Val30245Ile)
c.90730G>A (p.Val30244Ile)
c.90163G>A (p.Val30055Ile)
c.87505G>A (p.Val29169Ile)
c.87424G>A (p.Val29142Ile)
c.69187G>A (p.Val23063Ile)
c.59041G>A (p.Val19681Ile)
2g.178543853T>ACA430241442TTN,TTN-AS1c.88587A>T (p.Thr29529=)
c.69672A>T (p.Thr23224=)
c.69471A>T (p.Thr23157=)
c.69096A>T (p.Thr23032=)
c.96291A>T (p.Thr32097=)
c.91368A>T (p.Thr30456=)
n.446+20217T>A
n.2043+1492T>A
c.95388A>T (p.Thr31796=)
c.69282A>T (p.Thr23094=)
c.69141A>T (p.Thr23047=)
c.95184A>T (p.Thr31728=)
c.90582A>T (p.Thr30194=)
c.90579A>T (p.Thr30193=)
c.87621A>T (p.Thr29207=)
c.69237A>T (p.Thr23079=)
c.90732A>T (p.Thr30244=)
c.90729A>T (p.Thr30243=)
c.90162A>T (p.Thr30054=)
c.87504A>T (p.Thr29168=)
c.87423A>T (p.Thr29141=)
c.69186A>T (p.Thr23062=)
c.59040A>T (p.Thr19680=)
2g.178543853T>CCA430241444TTN,TTN-AS1c.88587A>G (p.Thr29529=)
c.69672A>G (p.Thr23224=)
c.69471A>G (p.Thr23157=)
c.69096A>G (p.Thr23032=)
c.96291A>G (p.Thr32097=)
c.91368A>G (p.Thr30456=)
n.446+20217T>C
n.2043+1492T>C
c.95388A>G (p.Thr31796=)
c.69282A>G (p.Thr23094=)
c.69141A>G (p.Thr23047=)
c.95184A>G (p.Thr31728=)
c.90582A>G (p.Thr30194=)
c.90579A>G (p.Thr30193=)
c.87621A>G (p.Thr29207=)
c.69237A>G (p.Thr23079=)
c.90732A>G (p.Thr30244=)
c.90729A>G (p.Thr30243=)
c.90162A>G (p.Thr30054=)
c.87504A>G (p.Thr29168=)
c.87423A>G (p.Thr29141=)
c.69186A>G (p.Thr23062=)
c.59040A>G (p.Thr19680=)
 gnomAD v4
2g.178543853T>GCA430241445TTN,TTN-AS1c.88587A>C (p.Thr29529=)
c.69672A>C (p.Thr23224=)
c.69471A>C (p.Thr23157=)
c.69096A>C (p.Thr23032=)
c.96291A>C (p.Thr32097=)
c.91368A>C (p.Thr30456=)
n.446+20217T>G
n.2043+1492T>G
c.95388A>C (p.Thr31796=)
c.69282A>C (p.Thr23094=)
c.69141A>C (p.Thr23047=)
c.95184A>C (p.Thr31728=)
c.90582A>C (p.Thr30194=)
c.90579A>C (p.Thr30193=)
c.87621A>C (p.Thr29207=)
c.69237A>C (p.Thr23079=)
c.90732A>C (p.Thr30244=)
c.90729A>C (p.Thr30243=)
c.90162A>C (p.Thr30054=)
c.87504A>C (p.Thr29168=)
c.87423A>C (p.Thr29141=)
c.69186A>C (p.Thr23062=)
c.59040A>C (p.Thr19680=)
2g.178543854G>ACA349450399TTN,TTN-AS1c.88586C>T (p.Thr29529Ile)
c.69671C>T (p.Thr23224Ile)
c.69470C>T (p.Thr23157Ile)
c.69095C>T (p.Thr23032Ile)
c.96290C>T (p.Thr32097Ile)
c.91367C>T (p.Thr30456Ile)
n.446+20218G>A
n.2043+1493G>A
c.95387C>T (p.Thr31796Ile)
c.69281C>T (p.Thr23094Ile)
c.69140C>T (p.Thr23047Ile)
c.95183C>T (p.Thr31728Ile)
c.90581C>T (p.Thr30194Ile)
c.90578C>T (p.Thr30193Ile)
c.87620C>T (p.Thr29207Ile)
c.69236C>T (p.Thr23079Ile)
c.90731C>T (p.Thr30244Ile)
c.90728C>T (p.Thr30243Ile)
c.90161C>T (p.Thr30054Ile)
c.87503C>T (p.Thr29168Ile)
c.87422C>T (p.Thr29141Ile)
c.69185C>T (p.Thr23062Ile)
c.59039C>T (p.Thr19680Ile)
 dbSNP gnomAD v4
2g.178543854G>CCA349450392TTN,TTN-AS1c.88586C>G (p.Thr29529Arg)
c.69671C>G (p.Thr23224Arg)
c.69470C>G (p.Thr23157Arg)
c.69095C>G (p.Thr23032Arg)
c.96290C>G (p.Thr32097Arg)
c.91367C>G (p.Thr30456Arg)
n.446+20218G>C
n.2043+1493G>C
c.95387C>G (p.Thr31796Arg)
c.69281C>G (p.Thr23094Arg)
c.69140C>G (p.Thr23047Arg)
c.95183C>G (p.Thr31728Arg)
c.90581C>G (p.Thr30194Arg)
c.90578C>G (p.Thr30193Arg)
c.87620C>G (p.Thr29207Arg)
c.69236C>G (p.Thr23079Arg)
c.90731C>G (p.Thr30244Arg)
c.90728C>G (p.Thr30243Arg)
c.90161C>G (p.Thr30054Arg)
c.87503C>G (p.Thr29168Arg)
c.87422C>G (p.Thr29141Arg)
c.69185C>G (p.Thr23062Arg)
c.59039C>G (p.Thr19680Arg)
2g.178543854G=CA1310521123TTN,TTN-AS1c.88586C= (p.Thr29529=)
c.69671C= (p.Thr23224=)
c.69470C= (p.Thr23157=)
c.69095C= (p.Thr23032=)
c.96290C= (p.Thr32097=)
c.91367C= (p.Thr30456=)
n.446+20218G=
n.2043+1493G=
c.95387C= (p.Thr31796=)
c.69281C= (p.Thr23094=)
c.69140C= (p.Thr23047=)
c.95183C= (p.Thr31728=)
c.90581C= (p.Thr30194=)
c.90578C= (p.Thr30193=)
c.87620C= (p.Thr29207=)
c.69236C= (p.Thr23079=)
c.90731C= (p.Thr30244=)
c.90728C= (p.Thr30243=)
c.90161C= (p.Thr30054=)
c.87503C= (p.Thr29168=)
c.87422C= (p.Thr29141=)
c.69185C= (p.Thr23062=)
c.59039C= (p.Thr19680=)
2g.178543854G>TCA349450394TTN,TTN-AS1c.88586C>A (p.Thr29529Lys)
c.69671C>A (p.Thr23224Lys)
c.69470C>A (p.Thr23157Lys)
c.69095C>A (p.Thr23032Lys)
c.96290C>A (p.Thr32097Lys)
c.91367C>A (p.Thr30456Lys)
n.446+20218G>T
n.2043+1493G>T
c.95387C>A (p.Thr31796Lys)
c.69281C>A (p.Thr23094Lys)
c.69140C>A (p.Thr23047Lys)
c.95183C>A (p.Thr31728Lys)
c.90581C>A (p.Thr30194Lys)
c.90578C>A (p.Thr30193Lys)
c.87620C>A (p.Thr29207Lys)
c.69236C>A (p.Thr23079Lys)
c.90731C>A (p.Thr30244Lys)
c.90728C>A (p.Thr30243Lys)
c.90161C>A (p.Thr30054Lys)
c.87503C>A (p.Thr29168Lys)
c.87422C>A (p.Thr29141Lys)
c.69185C>A (p.Thr23062Lys)
c.59039C>A (p.Thr19680Lys)
2g.178543854dupCA2586965238TTN,TTN-AS1c.88586dup (p.Val29530SerfsTer4)
c.69671dup (p.Val23225SerfsTer4)
c.69470dup (p.Val23158SerfsTer4)
c.69095dup (p.Val23033SerfsTer4)
c.96290dup (p.Val32098SerfsTer4)
c.91367dup (p.Val30457SerfsTer4)
n.446+20218dup
n.2043+1493dup
c.95387dup (p.Val31797SerfsTer4)
c.69281dup (p.Val23095SerfsTer4)
c.69140dup (p.Val23048SerfsTer4)
c.95183dup (p.Val31729SerfsTer4)
c.90581dup (p.Val30195SerfsTer4)
c.90578dup (p.Val30194SerfsTer4)
c.87620dup (p.Val29208SerfsTer4)
c.69236dup (p.Val23080SerfsTer4)
c.90731dup (p.Val30245SerfsTer4)
c.90728dup (p.Val30244SerfsTer4)
c.90161dup (p.Val30055SerfsTer4)
c.87503dup (p.Val29169SerfsTer4)
c.87422dup (p.Val29142SerfsTer4)
c.69185dup (p.Val23063SerfsTer4)
c.59039dup (p.Val19681SerfsTer4)
 gnomAD v4
2g.178543855T>ACA349450404TTN,TTN-AS1c.88585A>T (p.Thr29529Ser)
c.69670A>T (p.Thr23224Ser)
c.69469A>T (p.Thr23157Ser)
c.69094A>T (p.Thr23032Ser)
c.96289A>T (p.Thr32097Ser)
c.91366A>T (p.Thr30456Ser)
n.446+20219T>A
n.2043+1494T>A
c.95386A>T (p.Thr31796Ser)
c.69280A>T (p.Thr23094Ser)
c.69139A>T (p.Thr23047Ser)
c.95182A>T (p.Thr31728Ser)
c.90580A>T (p.Thr30194Ser)
c.90577A>T (p.Thr30193Ser)
c.87619A>T (p.Thr29207Ser)
c.69235A>T (p.Thr23079Ser)
c.90730A>T (p.Thr30244Ser)
c.90727A>T (p.Thr30243Ser)
c.90160A>T (p.Thr30054Ser)
c.87502A>T (p.Thr29168Ser)
c.87421A>T (p.Thr29141Ser)
c.69184A>T (p.Thr23062Ser)
c.59038A>T (p.Thr19680Ser)
2g.178543855T>CCA349450413TTN,TTN-AS1c.88585A>G (p.Thr29529Ala)
c.69670A>G (p.Thr23224Ala)
c.69469A>G (p.Thr23157Ala)
c.69094A>G (p.Thr23032Ala)
c.96289A>G (p.Thr32097Ala)
c.91366A>G (p.Thr30456Ala)
n.446+20219T>C
n.2043+1494T>C
c.95386A>G (p.Thr31796Ala)
c.69280A>G (p.Thr23094Ala)
c.69139A>G (p.Thr23047Ala)
c.95182A>G (p.Thr31728Ala)
c.90580A>G (p.Thr30194Ala)
c.90577A>G (p.Thr30193Ala)
c.87619A>G (p.Thr29207Ala)
c.69235A>G (p.Thr23079Ala)
c.90730A>G (p.Thr30244Ala)
c.90727A>G (p.Thr30243Ala)
c.90160A>G (p.Thr30054Ala)
c.87502A>G (p.Thr29168Ala)
c.87421A>G (p.Thr29141Ala)
c.69184A>G (p.Thr23062Ala)
c.59038A>G (p.Thr19680Ala)
 ClinVar dbSNP
2g.178543855T>GCA349450416TTN,TTN-AS1c.88585A>C (p.Thr29529Pro)
c.69670A>C (p.Thr23224Pro)
c.69469A>C (p.Thr23157Pro)
c.69094A>C (p.Thr23032Pro)
c.96289A>C (p.Thr32097Pro)
c.91366A>C (p.Thr30456Pro)
n.446+20219T>G
n.2043+1494T>G
c.95386A>C (p.Thr31796Pro)
c.69280A>C (p.Thr23094Pro)
c.69139A>C (p.Thr23047Pro)
c.95182A>C (p.Thr31728Pro)
c.90580A>C (p.Thr30194Pro)
c.90577A>C (p.Thr30193Pro)
c.87619A>C (p.Thr29207Pro)
c.69235A>C (p.Thr23079Pro)
c.90730A>C (p.Thr30244Pro)
c.90727A>C (p.Thr30243Pro)
c.90160A>C (p.Thr30054Pro)
c.87502A>C (p.Thr29168Pro)
c.87421A>C (p.Thr29141Pro)
c.69184A>C (p.Thr23062Pro)
c.59038A>C (p.Thr19680Pro)
2g.178543855T=CA1310521125TTN,TTN-AS1c.88585A= (p.Thr29529=)
c.69670A= (p.Thr23224=)
c.69469A= (p.Thr23157=)
c.69094A= (p.Thr23032=)
c.96289A= (p.Thr32097=)
c.91366A= (p.Thr30456=)
n.446+20219T=
n.2043+1494T=
c.95386A= (p.Thr31796=)
c.69280A= (p.Thr23094=)
c.69139A= (p.Thr23047=)
c.95182A= (p.Thr31728=)
c.90580A= (p.Thr30194=)
c.90577A= (p.Thr30193=)
c.87619A= (p.Thr29207=)
c.69235A= (p.Thr23079=)
c.90730A= (p.Thr30244=)
c.90727A= (p.Thr30243=)
c.90160A= (p.Thr30054=)
c.87502A= (p.Thr29168=)
c.87421A= (p.Thr29141=)
c.69184A= (p.Thr23062=)
c.59038A= (p.Thr19680=)
2g.178543856T>ACA430241455TTN,TTN-AS1c.88584A>T (p.Ala29528=)
c.69669A>T (p.Ala23223=)
c.69468A>T (p.Ala23156=)
c.69093A>T (p.Ala23031=)
c.96288A>T (p.Ala32096=)
c.91365A>T (p.Ala30455=)
n.446+20220T>A
n.2043+1495T>A
c.95385A>T (p.Ala31795=)
c.69279A>T (p.Ala23093=)
c.69138A>T (p.Ala23046=)
c.95181A>T (p.Ala31727=)
c.90579A>T (p.Ala30193=)
c.90576A>T (p.Ala30192=)
c.87618A>T (p.Ala29206=)
c.69234A>T (p.Ala23078=)
c.90729A>T (p.Ala30243=)
c.90726A>T (p.Ala30242=)
c.90159A>T (p.Ala30053=)
c.87501A>T (p.Ala29167=)
c.87420A>T (p.Ala29140=)
c.69183A>T (p.Ala23061=)
c.59037A>T (p.Ala19679=)
2g.178543856T>CCA430241461TTN,TTN-AS1c.88584A>G (p.Ala29528=)
c.69669A>G (p.Ala23223=)
c.69468A>G (p.Ala23156=)
c.69093A>G (p.Ala23031=)
c.96288A>G (p.Ala32096=)
c.91365A>G (p.Ala30455=)
n.446+20220T>C
n.2043+1495T>C
c.95385A>G (p.Ala31795=)
c.69279A>G (p.Ala23093=)
c.69138A>G (p.Ala23046=)
c.95181A>G (p.Ala31727=)
c.90579A>G (p.Ala30193=)
c.90576A>G (p.Ala30192=)
c.87618A>G (p.Ala29206=)
c.69234A>G (p.Ala23078=)
c.90729A>G (p.Ala30243=)
c.90726A>G (p.Ala30242=)
c.90159A>G (p.Ala30053=)
c.87501A>G (p.Ala29167=)
c.87420A>G (p.Ala29140=)
c.69183A>G (p.Ala23061=)
c.59037A>G (p.Ala19679=)
2g.178543856T>GCA430241458TTN,TTN-AS1c.88584A>C (p.Ala29528=)
c.69669A>C (p.Ala23223=)
c.69468A>C (p.Ala23156=)
c.69093A>C (p.Ala23031=)
c.96288A>C (p.Ala32096=)
c.91365A>C (p.Ala30455=)
n.446+20220T>G
n.2043+1495T>G
c.95385A>C (p.Ala31795=)
c.69279A>C (p.Ala23093=)
c.69138A>C (p.Ala23046=)
c.95181A>C (p.Ala31727=)
c.90579A>C (p.Ala30193=)
c.90576A>C (p.Ala30192=)
c.87618A>C (p.Ala29206=)
c.69234A>C (p.Ala23078=)
c.90729A>C (p.Ala30243=)
c.90726A>C (p.Ala30242=)
c.90159A>C (p.Ala30053=)
c.87501A>C (p.Ala29167=)
c.87420A>C (p.Ala29140=)
c.69183A>C (p.Ala23061=)
c.59037A>C (p.Ala19679=)
 dbSNP
2g.178543856T=CA1310521127TTN,TTN-AS1c.88584A= (p.Ala29528=)
c.69669A= (p.Ala23223=)
c.69468A= (p.Ala23156=)
c.69093A= (p.Ala23031=)
c.96288A= (p.Ala32096=)
c.91365A= (p.Ala30455=)
n.446+20220T=
n.2043+1495T=
c.95385A= (p.Ala31795=)
c.69279A= (p.Ala23093=)
c.69138A= (p.Ala23046=)
c.95181A= (p.Ala31727=)
c.90579A= (p.Ala30193=)
c.90576A= (p.Ala30192=)
c.87618A= (p.Ala29206=)
c.69234A= (p.Ala23078=)
c.90729A= (p.Ala30243=)
c.90726A= (p.Ala30242=)
c.90159A= (p.Ala30053=)
c.87501A= (p.Ala29167=)
c.87420A= (p.Ala29140=)
c.69183A= (p.Ala23061=)
c.59037A= (p.Ala19679=)
2g.178543857G>ACA349450443TTN,TTN-AS1c.88583C>T (p.Ala29528Val)
c.69668C>T (p.Ala23223Val)
c.69467C>T (p.Ala23156Val)
c.69092C>T (p.Ala23031Val)
c.96287C>T (p.Ala32096Val)
c.91364C>T (p.Ala30455Val)
n.446+20221G>A
n.2043+1496G>A
c.95384C>T (p.Ala31795Val)
c.69278C>T (p.Ala23093Val)
c.69137C>T (p.Ala23046Val)
c.95180C>T (p.Ala31727Val)
c.90578C>T (p.Ala30193Val)
c.90575C>T (p.Ala30192Val)
c.87617C>T (p.Ala29206Val)
c.69233C>T (p.Ala23078Val)
c.90728C>T (p.Ala30243Val)
c.90725C>T (p.Ala30242Val)
c.90158C>T (p.Ala30053Val)
c.87500C>T (p.Ala29167Val)
c.87419C>T (p.Ala29140Val)
c.69182C>T (p.Ala23061Val)
c.59036C>T (p.Ala19679Val)
2g.178543857G>CCA349450447TTN,TTN-AS1c.88583C>G (p.Ala29528Gly)
c.69668C>G (p.Ala23223Gly)
c.69467C>G (p.Ala23156Gly)
c.69092C>G (p.Ala23031Gly)
c.96287C>G (p.Ala32096Gly)
c.91364C>G (p.Ala30455Gly)
n.446+20221G>C
n.2043+1496G>C
c.95384C>G (p.Ala31795Gly)
c.69278C>G (p.Ala23093Gly)
c.69137C>G (p.Ala23046Gly)
c.95180C>G (p.Ala31727Gly)
c.90578C>G (p.Ala30193Gly)
c.90575C>G (p.Ala30192Gly)
c.87617C>G (p.Ala29206Gly)
c.69233C>G (p.Ala23078Gly)
c.90728C>G (p.Ala30243Gly)
c.90725C>G (p.Ala30242Gly)
c.90158C>G (p.Ala30053Gly)
c.87500C>G (p.Ala29167Gly)
c.87419C>G (p.Ala29140Gly)
c.69182C>G (p.Ala23061Gly)
c.59036C>G (p.Ala19679Gly)
2g.178543857G=CA1310521128TTN,TTN-AS1c.88583C= (p.Ala29528=)
c.69668C= (p.Ala23223=)
c.69467C= (p.Ala23156=)
c.69092C= (p.Ala23031=)
c.96287C= (p.Ala32096=)
c.91364C= (p.Ala30455=)
n.446+20221G=
n.2043+1496G=
c.95384C= (p.Ala31795=)
c.69278C= (p.Ala23093=)
c.69137C= (p.Ala23046=)
c.95180C= (p.Ala31727=)
c.90578C= (p.Ala30193=)
c.90575C= (p.Ala30192=)
c.87617C= (p.Ala29206=)
c.69233C= (p.Ala23078=)
c.90728C= (p.Ala30243=)
c.90725C= (p.Ala30242=)
c.90158C= (p.Ala30053=)
c.87500C= (p.Ala29167=)
c.87419C= (p.Ala29140=)
c.69182C= (p.Ala23061=)
c.59036C= (p.Ala19679=)
2g.178543857G>TCA349450450TTN,TTN-AS1c.88583C>A (p.Ala29528Glu)
c.69668C>A (p.Ala23223Glu)
c.69467C>A (p.Ala23156Glu)
c.69092C>A (p.Ala23031Glu)
c.96287C>A (p.Ala32096Glu)
c.91364C>A (p.Ala30455Glu)
n.446+20221G>T
n.2043+1496G>T
c.95384C>A (p.Ala31795Glu)
c.69278C>A (p.Ala23093Glu)
c.69137C>A (p.Ala23046Glu)
c.95180C>A (p.Ala31727Glu)
c.90578C>A (p.Ala30193Glu)
c.90575C>A (p.Ala30192Glu)
c.87617C>A (p.Ala29206Glu)
c.69233C>A (p.Ala23078Glu)
c.90728C>A (p.Ala30243Glu)
c.90725C>A (p.Ala30242Glu)
c.90158C>A (p.Ala30053Glu)
c.87500C>A (p.Ala29167Glu)
c.87419C>A (p.Ala29140Glu)
c.69182C>A (p.Ala23061Glu)
c.59036C>A (p.Ala19679Glu)
 dbSNP
2g.178543858C>ACA349450454TTN,TTN-AS1c.88582G>T (p.Ala29528Ser)
c.69667G>T (p.Ala23223Ser)
c.69466G>T (p.Ala23156Ser)
c.69091G>T (p.Ala23031Ser)
c.96286G>T (p.Ala32096Ser)
c.91363G>T (p.Ala30455Ser)
n.446+20222C>A
n.2043+1497C>A
c.95383G>T (p.Ala31795Ser)
c.69277G>T (p.Ala23093Ser)
c.69136G>T (p.Ala23046Ser)
c.95179G>T (p.Ala31727Ser)
c.90577G>T (p.Ala30193Ser)
c.90574G>T (p.Ala30192Ser)
c.87616G>T (p.Ala29206Ser)
c.69232G>T (p.Ala23078Ser)
c.90727G>T (p.Ala30243Ser)
c.90724G>T (p.Ala30242Ser)
c.90157G>T (p.Ala30053Ser)
c.87499G>T (p.Ala29167Ser)
c.87418G>T (p.Ala29140Ser)
c.69181G>T (p.Ala23061Ser)
c.59035G>T (p.Ala19679Ser)
2g.178543858C=CA1310521130TTN,TTN-AS1c.88582G= (p.Ala29528=)
c.69667G= (p.Ala23223=)
c.69466G= (p.Ala23156=)
c.69091G= (p.Ala23031=)
c.96286G= (p.Ala32096=)
c.91363G= (p.Ala30455=)
n.446+20222C=
n.2043+1497C=
c.95383G= (p.Ala31795=)
c.69277G= (p.Ala23093=)
c.69136G= (p.Ala23046=)
c.95179G= (p.Ala31727=)
c.90577G= (p.Ala30193=)
c.90574G= (p.Ala30192=)
c.87616G= (p.Ala29206=)
c.69232G= (p.Ala23078=)
c.90727G= (p.Ala30243=)
c.90724G= (p.Ala30242=)
c.90157G= (p.Ala30053=)
c.87499G= (p.Ala29167=)
c.87418G= (p.Ala29140=)
c.69181G= (p.Ala23061=)
c.59035G= (p.Ala19679=)
2g.178543858C>GCA349450467TTN,TTN-AS1c.88582G>C (p.Ala29528Pro)
c.69667G>C (p.Ala23223Pro)
c.69466G>C (p.Ala23156Pro)
c.69091G>C (p.Ala23031Pro)
c.96286G>C (p.Ala32096Pro)
c.91363G>C (p.Ala30455Pro)
n.446+20222C>G
n.2043+1497C>G
c.95383G>C (p.Ala31795Pro)
c.69277G>C (p.Ala23093Pro)
c.69136G>C (p.Ala23046Pro)
c.95179G>C (p.Ala31727Pro)
c.90577G>C (p.Ala30193Pro)
c.90574G>C (p.Ala30192Pro)
c.87616G>C (p.Ala29206Pro)
c.69232G>C (p.Ala23078Pro)
c.90727G>C (p.Ala30243Pro)
c.90724G>C (p.Ala30242Pro)
c.90157G>C (p.Ala30053Pro)
c.87499G>C (p.Ala29167Pro)
c.87418G>C (p.Ala29140Pro)
c.69181G>C (p.Ala23061Pro)
c.59035G>C (p.Ala19679Pro)
 gnomAD v4
2g.178543858C>TCA141378TTN,TTN-AS1c.88582G>A (p.Ala29528Thr)
c.69667G>A (p.Ala23223Thr)
c.69466G>A (p.Ala23156Thr)
c.69091G>A (p.Ala23031Thr)
c.96286G>A (p.Ala32096Thr)
c.91363G>A (p.Ala30455Thr)
n.446+20222C>T
n.2043+1497C>T
c.95383G>A (p.Ala31795Thr)
c.69277G>A (p.Ala23093Thr)
c.69136G>A (p.Ala23046Thr)
c.95179G>A (p.Ala31727Thr)
c.90577G>A (p.Ala30193Thr)
c.90574G>A (p.Ala30192Thr)
c.87616G>A (p.Ala29206Thr)
c.69232G>A (p.Ala23078Thr)
c.90727G>A (p.Ala30243Thr)
c.90724G>A (p.Ala30242Thr)
c.90157G>A (p.Ala30053Thr)
c.87499G>A (p.Ala29167Thr)
c.87418G>A (p.Ala29140Thr)
c.69181G>A (p.Ala23061Thr)
c.59035G>A (p.Ala19679Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543859T>ACA430241466TTN,TTN-AS1c.88581A>T (p.Ser29527=)
c.69666A>T (p.Ser23222=)
c.69465A>T (p.Ser23155=)
c.69090A>T (p.Ser23030=)
c.96285A>T (p.Ser32095=)
c.91362A>T (p.Ser30454=)
n.446+20223T>A
n.2043+1498T>A
c.95382A>T (p.Ser31794=)
c.69276A>T (p.Ser23092=)
c.69135A>T (p.Ser23045=)
c.95178A>T (p.Ser31726=)
c.90576A>T (p.Ser30192=)
c.90573A>T (p.Ser30191=)
c.87615A>T (p.Ser29205=)
c.69231A>T (p.Ser23077=)
c.90726A>T (p.Ser30242=)
c.90723A>T (p.Ser30241=)
c.90156A>T (p.Ser30052=)
c.87498A>T (p.Ser29166=)
c.87417A>T (p.Ser29139=)
c.69180A>T (p.Ser23060=)
c.59034A>T (p.Ser19678=)
2g.178543859T>CCA430241468TTN,TTN-AS1c.88581A>G (p.Ser29527=)
c.69666A>G (p.Ser23222=)
c.69465A>G (p.Ser23155=)
c.69090A>G (p.Ser23030=)
c.96285A>G (p.Ser32095=)
c.91362A>G (p.Ser30454=)
n.446+20223T>C
n.2043+1498T>C
c.95382A>G (p.Ser31794=)
c.69276A>G (p.Ser23092=)
c.69135A>G (p.Ser23045=)
c.95178A>G (p.Ser31726=)
c.90576A>G (p.Ser30192=)
c.90573A>G (p.Ser30191=)
c.87615A>G (p.Ser29205=)
c.69231A>G (p.Ser23077=)
c.90726A>G (p.Ser30242=)
c.90723A>G (p.Ser30241=)
c.90156A>G (p.Ser30052=)
c.87498A>G (p.Ser29166=)
c.87417A>G (p.Ser29139=)
c.69180A>G (p.Ser23060=)
c.59034A>G (p.Ser19678=)
2g.178543859T>GCA430241469TTN,TTN-AS1c.88581A>C (p.Ser29527=)
c.69666A>C (p.Ser23222=)
c.69465A>C (p.Ser23155=)
c.69090A>C (p.Ser23030=)
c.96285A>C (p.Ser32095=)
c.91362A>C (p.Ser30454=)
n.446+20223T>G
n.2043+1498T>G
c.95382A>C (p.Ser31794=)
c.69276A>C (p.Ser23092=)
c.69135A>C (p.Ser23045=)
c.95178A>C (p.Ser31726=)
c.90576A>C (p.Ser30192=)
c.90573A>C (p.Ser30191=)
c.87615A>C (p.Ser29205=)
c.69231A>C (p.Ser23077=)
c.90726A>C (p.Ser30242=)
c.90723A>C (p.Ser30241=)
c.90156A>C (p.Ser30052=)
c.87498A>C (p.Ser29166=)
c.87417A>C (p.Ser29139=)
c.69180A>C (p.Ser23060=)
c.59034A>C (p.Ser19678=)
2g.178543860G>ACA349450473TTN,TTN-AS1c.88580C>T (p.Ser29527Leu)
c.69665C>T (p.Ser23222Leu)
c.69464C>T (p.Ser23155Leu)
c.69089C>T (p.Ser23030Leu)
c.96284C>T (p.Ser32095Leu)
c.91361C>T (p.Ser30454Leu)
n.446+20224G>A
n.2043+1499G>A
c.95381C>T (p.Ser31794Leu)
c.69275C>T (p.Ser23092Leu)
c.69134C>T (p.Ser23045Leu)
c.95177C>T (p.Ser31726Leu)
c.90575C>T (p.Ser30192Leu)
c.90572C>T (p.Ser30191Leu)
c.87614C>T (p.Ser29205Leu)
c.69230C>T (p.Ser23077Leu)
c.90725C>T (p.Ser30242Leu)
c.90722C>T (p.Ser30241Leu)
c.90155C>T (p.Ser30052Leu)
c.87497C>T (p.Ser29166Leu)
c.87416C>T (p.Ser29139Leu)
c.69179C>T (p.Ser23060Leu)
c.59033C>T (p.Ser19678Leu)
2g.178543860G>CCA349450476TTN,TTN-AS1c.88580C>G (p.Ser29527Ter)
c.69665C>G (p.Ser23222Ter)
c.69464C>G (p.Ser23155Ter)
c.69089C>G (p.Ser23030Ter)
c.96284C>G (p.Ser32095Ter)
c.91361C>G (p.Ser30454Ter)
n.446+20224G>C
n.2043+1499G>C
c.95381C>G (p.Ser31794Ter)
c.69275C>G (p.Ser23092Ter)
c.69134C>G (p.Ser23045Ter)
c.95177C>G (p.Ser31726Ter)
c.90575C>G (p.Ser30192Ter)
c.90572C>G (p.Ser30191Ter)
c.87614C>G (p.Ser29205Ter)
c.69230C>G (p.Ser23077Ter)
c.90725C>G (p.Ser30242Ter)
c.90722C>G (p.Ser30241Ter)
c.90155C>G (p.Ser30052Ter)
c.87497C>G (p.Ser29166Ter)
c.87416C>G (p.Ser29139Ter)
c.69179C>G (p.Ser23060Ter)
c.59033C>G (p.Ser19678Ter)
2g.178543860G>TCA349450480TTN,TTN-AS1c.88580C>A (p.Ser29527Ter)
c.69665C>A (p.Ser23222Ter)
c.69464C>A (p.Ser23155Ter)
c.69089C>A (p.Ser23030Ter)
c.96284C>A (p.Ser32095Ter)
c.91361C>A (p.Ser30454Ter)
n.446+20224G>T
n.2043+1499G>T
c.95381C>A (p.Ser31794Ter)
c.69275C>A (p.Ser23092Ter)
c.69134C>A (p.Ser23045Ter)
c.95177C>A (p.Ser31726Ter)
c.90575C>A (p.Ser30192Ter)
c.90572C>A (p.Ser30191Ter)
c.87614C>A (p.Ser29205Ter)
c.69230C>A (p.Ser23077Ter)
c.90725C>A (p.Ser30242Ter)
c.90722C>A (p.Ser30241Ter)
c.90155C>A (p.Ser30052Ter)
c.87497C>A (p.Ser29166Ter)
c.87416C>A (p.Ser29139Ter)
c.69179C>A (p.Ser23060Ter)
c.59033C>A (p.Ser19678Ter)
2g.178543861A>CCA349450497TTN,TTN-AS1c.88579T>G (p.Ser29527Ala)
c.69664T>G (p.Ser23222Ala)
c.69463T>G (p.Ser23155Ala)
c.69088T>G (p.Ser23030Ala)
c.96283T>G (p.Ser32095Ala)
c.91360T>G (p.Ser30454Ala)
n.446+20225A>C
n.2043+1500A>C
c.95380T>G (p.Ser31794Ala)
c.69274T>G (p.Ser23092Ala)
c.69133T>G (p.Ser23045Ala)
c.95176T>G (p.Ser31726Ala)
c.90574T>G (p.Ser30192Ala)
c.90571T>G (p.Ser30191Ala)
c.87613T>G (p.Ser29205Ala)
c.69229T>G (p.Ser23077Ala)
c.90724T>G (p.Ser30242Ala)
c.90721T>G (p.Ser30241Ala)
c.90154T>G (p.Ser30052Ala)
c.87496T>G (p.Ser29166Ala)
c.87415T>G (p.Ser29139Ala)
c.69178T>G (p.Ser23060Ala)
c.59032T>G (p.Ser19678Ala)
2g.178543861A>GCA349450514TTN,TTN-AS1c.88579T>C (p.Ser29527Pro)
c.69664T>C (p.Ser23222Pro)
c.69463T>C (p.Ser23155Pro)
c.69088T>C (p.Ser23030Pro)
c.96283T>C (p.Ser32095Pro)
c.91360T>C (p.Ser30454Pro)
n.446+20225A>G
n.2043+1500A>G
c.95380T>C (p.Ser31794Pro)
c.69274T>C (p.Ser23092Pro)
c.69133T>C (p.Ser23045Pro)
c.95176T>C (p.Ser31726Pro)
c.90574T>C (p.Ser30192Pro)
c.90571T>C (p.Ser30191Pro)
c.87613T>C (p.Ser29205Pro)
c.69229T>C (p.Ser23077Pro)
c.90724T>C (p.Ser30242Pro)
c.90721T>C (p.Ser30241Pro)
c.90154T>C (p.Ser30052Pro)
c.87496T>C (p.Ser29166Pro)
c.87415T>C (p.Ser29139Pro)
c.69178T>C (p.Ser23060Pro)
c.59032T>C (p.Ser19678Pro)
2g.178543861A>TCA349450495TTN,TTN-AS1c.88579T>A (p.Ser29527Thr)
c.69664T>A (p.Ser23222Thr)
c.69463T>A (p.Ser23155Thr)
c.69088T>A (p.Ser23030Thr)
c.96283T>A (p.Ser32095Thr)
c.91360T>A (p.Ser30454Thr)
n.446+20225A>T
n.2043+1500A>T
c.95380T>A (p.Ser31794Thr)
c.69274T>A (p.Ser23092Thr)
c.69133T>A (p.Ser23045Thr)
c.95176T>A (p.Ser31726Thr)
c.90574T>A (p.Ser30192Thr)
c.90571T>A (p.Ser30191Thr)
c.87613T>A (p.Ser29205Thr)
c.69229T>A (p.Ser23077Thr)
c.90724T>A (p.Ser30242Thr)
c.90721T>A (p.Ser30241Thr)
c.90154T>A (p.Ser30052Thr)
c.87496T>A (p.Ser29166Thr)
c.87415T>A (p.Ser29139Thr)
c.69178T>A (p.Ser23060Thr)
c.59032T>A (p.Ser19678Thr)
2g.178543862T>ACA349450521TTN,TTN-AS1c.88578A>T (p.Lys29526Asn)
c.69663A>T (p.Lys23221Asn)
c.69462A>T (p.Lys23154Asn)
c.69087A>T (p.Lys23029Asn)
c.96282A>T (p.Lys32094Asn)
c.91359A>T (p.Lys30453Asn)
n.446+20226T>A
n.2043+1501T>A
c.95379A>T (p.Lys31793Asn)
c.69273A>T (p.Lys23091Asn)
c.69132A>T (p.Lys23044Asn)
c.95175A>T (p.Lys31725Asn)
c.90573A>T (p.Lys30191Asn)
c.90570A>T (p.Lys30190Asn)
c.87612A>T (p.Lys29204Asn)
c.69228A>T (p.Lys23076Asn)
c.90723A>T (p.Lys30241Asn)
c.90720A>T (p.Lys30240Asn)
c.90153A>T (p.Lys30051Asn)
c.87495A>T (p.Lys29165Asn)
c.87414A>T (p.Lys29138Asn)
c.69177A>T (p.Lys23059Asn)
c.59031A>T (p.Lys19677Asn)
2g.178543862T>CCA1986788TTN,TTN-AS1c.88578A>G (p.Lys29526=)
c.69663A>G (p.Lys23221=)
c.69462A>G (p.Lys23154=)
c.69087A>G (p.Lys23029=)
c.96282A>G (p.Lys32094=)
c.91359A>G (p.Lys30453=)
n.446+20226T>C
n.2043+1501T>C
c.95379A>G (p.Lys31793=)
c.69273A>G (p.Lys23091=)
c.69132A>G (p.Lys23044=)
c.95175A>G (p.Lys31725=)
c.90573A>G (p.Lys30191=)
c.90570A>G (p.Lys30190=)
c.87612A>G (p.Lys29204=)
c.69228A>G (p.Lys23076=)
c.90723A>G (p.Lys30241=)
c.90720A>G (p.Lys30240=)
c.90153A>G (p.Lys30051=)
c.87495A>G (p.Lys29165=)
c.87414A>G (p.Lys29138=)
c.69177A>G (p.Lys23059=)
c.59031A>G (p.Lys19677=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543862T>GCA349450523TTN,TTN-AS1c.88578A>C (p.Lys29526Asn)
c.69663A>C (p.Lys23221Asn)
c.69462A>C (p.Lys23154Asn)
c.69087A>C (p.Lys23029Asn)
c.96282A>C (p.Lys32094Asn)
c.91359A>C (p.Lys30453Asn)
n.446+20226T>G
n.2043+1501T>G
c.95379A>C (p.Lys31793Asn)
c.69273A>C (p.Lys23091Asn)
c.69132A>C (p.Lys23044Asn)
c.95175A>C (p.Lys31725Asn)
c.90573A>C (p.Lys30191Asn)
c.90570A>C (p.Lys30190Asn)
c.87612A>C (p.Lys29204Asn)
c.69228A>C (p.Lys23076Asn)
c.90723A>C (p.Lys30241Asn)
c.90720A>C (p.Lys30240Asn)
c.90153A>C (p.Lys30051Asn)
c.87495A>C (p.Lys29165Asn)
c.87414A>C (p.Lys29138Asn)
c.69177A>C (p.Lys23059Asn)
c.59031A>C (p.Lys19677Asn)
 gnomAD v4
2g.178543862T=CA1310521132TTN,TTN-AS1c.88578A= (p.Lys29526=)
c.69663A= (p.Lys23221=)
c.69462A= (p.Lys23154=)
c.69087A= (p.Lys23029=)
c.96282A= (p.Lys32094=)
c.91359A= (p.Lys30453=)
n.446+20226T=
n.2043+1501T=
c.95379A= (p.Lys31793=)
c.69273A= (p.Lys23091=)
c.69132A= (p.Lys23044=)
c.95175A= (p.Lys31725=)
c.90573A= (p.Lys30191=)
c.90570A= (p.Lys30190=)
c.87612A= (p.Lys29204=)
c.69228A= (p.Lys23076=)
c.90723A= (p.Lys30241=)
c.90720A= (p.Lys30240=)
c.90153A= (p.Lys30051=)
c.87495A= (p.Lys29165=)
c.87414A= (p.Lys29138=)
c.69177A= (p.Lys23059=)
c.59031A= (p.Lys19677=)
2g.178543863T>ACA349450526TTN,TTN-AS1c.88577A>T (p.Lys29526Ile)
c.69662A>T (p.Lys23221Ile)
c.69461A>T (p.Lys23154Ile)
c.69086A>T (p.Lys23029Ile)
c.96281A>T (p.Lys32094Ile)
c.91358A>T (p.Lys30453Ile)
n.446+20227T>A
n.2043+1502T>A
c.95378A>T (p.Lys31793Ile)
c.69272A>T (p.Lys23091Ile)
c.69131A>T (p.Lys23044Ile)
c.95174A>T (p.Lys31725Ile)
c.90572A>T (p.Lys30191Ile)
c.90569A>T (p.Lys30190Ile)
c.87611A>T (p.Lys29204Ile)
c.69227A>T (p.Lys23076Ile)
c.90722A>T (p.Lys30241Ile)
c.90719A>T (p.Lys30240Ile)
c.90152A>T (p.Lys30051Ile)
c.87494A>T (p.Lys29165Ile)
c.87413A>T (p.Lys29138Ile)
c.69176A>T (p.Lys23059Ile)
c.59030A>T (p.Lys19677Ile)
2g.178543863T>CCA349450534TTN,TTN-AS1c.88577A>G (p.Lys29526Arg)
c.69662A>G (p.Lys23221Arg)
c.69461A>G (p.Lys23154Arg)
c.69086A>G (p.Lys23029Arg)
c.96281A>G (p.Lys32094Arg)
c.91358A>G (p.Lys30453Arg)
n.446+20227T>C
n.2043+1502T>C
c.95378A>G (p.Lys31793Arg)
c.69272A>G (p.Lys23091Arg)
c.69131A>G (p.Lys23044Arg)
c.95174A>G (p.Lys31725Arg)
c.90572A>G (p.Lys30191Arg)
c.90569A>G (p.Lys30190Arg)
c.87611A>G (p.Lys29204Arg)
c.69227A>G (p.Lys23076Arg)
c.90722A>G (p.Lys30241Arg)
c.90719A>G (p.Lys30240Arg)
c.90152A>G (p.Lys30051Arg)
c.87494A>G (p.Lys29165Arg)
c.87413A>G (p.Lys29138Arg)
c.69176A>G (p.Lys23059Arg)
c.59030A>G (p.Lys19677Arg)
2g.178543863T>GCA349450529TTN,TTN-AS1c.88577A>C (p.Lys29526Thr)
c.69662A>C (p.Lys23221Thr)
c.69461A>C (p.Lys23154Thr)
c.69086A>C (p.Lys23029Thr)
c.96281A>C (p.Lys32094Thr)
c.91358A>C (p.Lys30453Thr)
n.446+20227T>G
n.2043+1502T>G
c.95378A>C (p.Lys31793Thr)
c.69272A>C (p.Lys23091Thr)
c.69131A>C (p.Lys23044Thr)
c.95174A>C (p.Lys31725Thr)
c.90572A>C (p.Lys30191Thr)
c.90569A>C (p.Lys30190Thr)
c.87611A>C (p.Lys29204Thr)
c.69227A>C (p.Lys23076Thr)
c.90722A>C (p.Lys30241Thr)
c.90719A>C (p.Lys30240Thr)
c.90152A>C (p.Lys30051Thr)
c.87494A>C (p.Lys29165Thr)
c.87413A>C (p.Lys29138Thr)
c.69176A>C (p.Lys23059Thr)
c.59030A>C (p.Lys19677Thr)
2g.178543864T>ACA349450553TTN,TTN-AS1c.88576A>T (p.Lys29526Ter)
c.69661A>T (p.Lys23221Ter)
c.69460A>T (p.Lys23154Ter)
c.69085A>T (p.Lys23029Ter)
c.96280A>T (p.Lys32094Ter)
c.91357A>T (p.Lys30453Ter)
n.446+20228T>A
n.2043+1503T>A
c.95377A>T (p.Lys31793Ter)
c.69271A>T (p.Lys23091Ter)
c.69130A>T (p.Lys23044Ter)
c.95173A>T (p.Lys31725Ter)
c.90571A>T (p.Lys30191Ter)
c.90568A>T (p.Lys30190Ter)
c.87610A>T (p.Lys29204Ter)
c.69226A>T (p.Lys23076Ter)
c.90721A>T (p.Lys30241Ter)
c.90718A>T (p.Lys30240Ter)
c.90151A>T (p.Lys30051Ter)
c.87493A>T (p.Lys29165Ter)
c.87412A>T (p.Lys29138Ter)
c.69175A>T (p.Lys23059Ter)
c.59029A>T (p.Lys19677Ter)
2g.178543864T>CCA349450557TTN,TTN-AS1c.88576A>G (p.Lys29526Glu)
c.69661A>G (p.Lys23221Glu)
c.69460A>G (p.Lys23154Glu)
c.69085A>G (p.Lys23029Glu)
c.96280A>G (p.Lys32094Glu)
c.91357A>G (p.Lys30453Glu)
n.446+20228T>C
n.2043+1503T>C
c.95377A>G (p.Lys31793Glu)
c.69271A>G (p.Lys23091Glu)
c.69130A>G (p.Lys23044Glu)
c.95173A>G (p.Lys31725Glu)
c.90571A>G (p.Lys30191Glu)
c.90568A>G (p.Lys30190Glu)
c.87610A>G (p.Lys29204Glu)
c.69226A>G (p.Lys23076Glu)
c.90721A>G (p.Lys30241Glu)
c.90718A>G (p.Lys30240Glu)
c.90151A>G (p.Lys30051Glu)
c.87493A>G (p.Lys29165Glu)
c.87412A>G (p.Lys29138Glu)
c.69175A>G (p.Lys23059Glu)
c.59029A>G (p.Lys19677Glu)
2g.178543864T>GCA349450558TTN,TTN-AS1c.88576A>C (p.Lys29526Gln)
c.69661A>C (p.Lys23221Gln)
c.69460A>C (p.Lys23154Gln)
c.69085A>C (p.Lys23029Gln)
c.96280A>C (p.Lys32094Gln)
c.91357A>C (p.Lys30453Gln)
n.446+20228T>G
n.2043+1503T>G
c.95377A>C (p.Lys31793Gln)
c.69271A>C (p.Lys23091Gln)
c.69130A>C (p.Lys23044Gln)
c.95173A>C (p.Lys31725Gln)
c.90571A>C (p.Lys30191Gln)
c.90568A>C (p.Lys30190Gln)
c.87610A>C (p.Lys29204Gln)
c.69226A>C (p.Lys23076Gln)
c.90721A>C (p.Lys30241Gln)
c.90718A>C (p.Lys30240Gln)
c.90151A>C (p.Lys30051Gln)
c.87493A>C (p.Lys29165Gln)
c.87412A>C (p.Lys29138Gln)
c.69175A>C (p.Lys23059Gln)
c.59029A>C (p.Lys19677Gln)
2g.178543865C>ACA349450559TTN,TTN-AS1c.88575G>T (p.Lys29525Asn)
c.69660G>T (p.Lys23220Asn)
c.69459G>T (p.Lys23153Asn)
c.69084G>T (p.Lys23028Asn)
c.96279G>T (p.Lys32093Asn)
c.91356G>T (p.Lys30452Asn)
n.446+20229C>A
n.2043+1504C>A
c.95376G>T (p.Lys31792Asn)
c.69270G>T (p.Lys23090Asn)
c.69129G>T (p.Lys23043Asn)
c.95172G>T (p.Lys31724Asn)
c.90570G>T (p.Lys30190Asn)
c.90567G>T (p.Lys30189Asn)
c.87609G>T (p.Lys29203Asn)
c.69225G>T (p.Lys23075Asn)
c.90720G>T (p.Lys30240Asn)
c.90717G>T (p.Lys30239Asn)
c.90150G>T (p.Lys30050Asn)
c.87492G>T (p.Lys29164Asn)
c.87411G>T (p.Lys29137Asn)
c.69174G>T (p.Lys23058Asn)
c.59028G>T (p.Lys19676Asn)
2g.178543865C>GCA349450561TTN,TTN-AS1c.88575G>C (p.Lys29525Asn)
c.69660G>C (p.Lys23220Asn)
c.69459G>C (p.Lys23153Asn)
c.69084G>C (p.Lys23028Asn)
c.96279G>C (p.Lys32093Asn)
c.91356G>C (p.Lys30452Asn)
n.446+20229C>G
n.2043+1504C>G
c.95376G>C (p.Lys31792Asn)
c.69270G>C (p.Lys23090Asn)
c.69129G>C (p.Lys23043Asn)
c.95172G>C (p.Lys31724Asn)
c.90570G>C (p.Lys30190Asn)
c.90567G>C (p.Lys30189Asn)
c.87609G>C (p.Lys29203Asn)
c.69225G>C (p.Lys23075Asn)
c.90720G>C (p.Lys30240Asn)
c.90717G>C (p.Lys30239Asn)
c.90150G>C (p.Lys30050Asn)
c.87492G>C (p.Lys29164Asn)
c.87411G>C (p.Lys29137Asn)
c.69174G>C (p.Lys23058Asn)
c.59028G>C (p.Lys19676Asn)
2g.178543865C>TCA430241490TTN,TTN-AS1c.88575G>A (p.Lys29525=)
c.69660G>A (p.Lys23220=)
c.69459G>A (p.Lys23153=)
c.69084G>A (p.Lys23028=)
c.96279G>A (p.Lys32093=)
c.91356G>A (p.Lys30452=)
n.446+20229C>T
n.2043+1504C>T
c.95376G>A (p.Lys31792=)
c.69270G>A (p.Lys23090=)
c.69129G>A (p.Lys23043=)
c.95172G>A (p.Lys31724=)
c.90570G>A (p.Lys30190=)
c.90567G>A (p.Lys30189=)
c.87609G>A (p.Lys29203=)
c.69225G>A (p.Lys23075=)
c.90720G>A (p.Lys30240=)
c.90717G>A (p.Lys30239=)
c.90150G>A (p.Lys30050=)
c.87492G>A (p.Lys29164=)
c.87411G>A (p.Lys29137=)
c.69174G>A (p.Lys23058=)
c.59028G>A (p.Lys19676=)
2g.178543868_178543887dupCA1139770938TTN,TTN-AS1c.88556_88575dup (p.Lys29526LeufsTer26)
c.69641_69660dup (p.Lys23221LeufsTer26)
c.69440_69459dup (p.Lys23154LeufsTer26)
c.69065_69084dup (p.Lys23029LeufsTer26)
c.96260_96279dup (p.Lys32094LeufsTer26)
c.91337_91356dup (p.Lys30453LeufsTer26)
n.446+20232_446+20251dup
n.2043+1507_2043+1526dup
c.95357_95376dup (p.Lys31793LeufsTer26)
c.69251_69270dup (p.Lys23091LeufsTer26)
c.69110_69129dup (p.Lys23044LeufsTer26)
c.95153_95172dup (p.Lys31725LeufsTer26)
c.90551_90570dup (p.Lys30191LeufsTer26)
c.90548_90567dup (p.Lys30190LeufsTer26)
c.87590_87609dup (p.Lys29204LeufsTer26)
c.69206_69225dup (p.Lys23076LeufsTer26)
c.90701_90720dup (p.Lys30241LeufsTer26)
c.90698_90717dup (p.Lys30240LeufsTer26)
c.90131_90150dup (p.Lys30051LeufsTer26)
c.87473_87492dup (p.Lys29165LeufsTer26)
c.87392_87411dup (p.Lys29138LeufsTer26)
c.69155_69174dup (p.Lys23059LeufsTer26)
c.59009_59028dup (p.Lys19677LeufsTer26)
 ClinVar dbSNP gnomAD v4
2g.178543866T>ACA349450566TTN,TTN-AS1c.88574A>T (p.Lys29525Met)
c.69659A>T (p.Lys23220Met)
c.69458A>T (p.Lys23153Met)
c.69083A>T (p.Lys23028Met)
c.96278A>T (p.Lys32093Met)
c.91355A>T (p.Lys30452Met)
n.446+20230T>A
n.2043+1505T>A
c.95375A>T (p.Lys31792Met)
c.69269A>T (p.Lys23090Met)
c.69128A>T (p.Lys23043Met)
c.95171A>T (p.Lys31724Met)
c.90569A>T (p.Lys30190Met)
c.90566A>T (p.Lys30189Met)
c.87608A>T (p.Lys29203Met)
c.69224A>T (p.Lys23075Met)
c.90719A>T (p.Lys30240Met)
c.90716A>T (p.Lys30239Met)
c.90149A>T (p.Lys30050Met)
c.87491A>T (p.Lys29164Met)
c.87410A>T (p.Lys29137Met)
c.69173A>T (p.Lys23058Met)
c.59027A>T (p.Lys19676Met)
2g.178543866T>CCA349450574TTN,TTN-AS1c.88574A>G (p.Lys29525Arg)
c.69659A>G (p.Lys23220Arg)
c.69458A>G (p.Lys23153Arg)
c.69083A>G (p.Lys23028Arg)
c.96278A>G (p.Lys32093Arg)
c.91355A>G (p.Lys30452Arg)
n.446+20230T>C
n.2043+1505T>C
c.95375A>G (p.Lys31792Arg)
c.69269A>G (p.Lys23090Arg)
c.69128A>G (p.Lys23043Arg)
c.95171A>G (p.Lys31724Arg)
c.90569A>G (p.Lys30190Arg)
c.90566A>G (p.Lys30189Arg)
c.87608A>G (p.Lys29203Arg)
c.69224A>G (p.Lys23075Arg)
c.90719A>G (p.Lys30240Arg)
c.90716A>G (p.Lys30239Arg)
c.90149A>G (p.Lys30050Arg)
c.87491A>G (p.Lys29164Arg)
c.87410A>G (p.Lys29137Arg)
c.69173A>G (p.Lys23058Arg)
c.59027A>G (p.Lys19676Arg)
2g.178543866T>GCA349450576TTN,TTN-AS1c.88574A>C (p.Lys29525Thr)
c.69659A>C (p.Lys23220Thr)
c.69458A>C (p.Lys23153Thr)
c.69083A>C (p.Lys23028Thr)
c.96278A>C (p.Lys32093Thr)
c.91355A>C (p.Lys30452Thr)
n.446+20230T>G
n.2043+1505T>G
c.95375A>C (p.Lys31792Thr)
c.69269A>C (p.Lys23090Thr)
c.69128A>C (p.Lys23043Thr)
c.95171A>C (p.Lys31724Thr)
c.90569A>C (p.Lys30190Thr)
c.90566A>C (p.Lys30189Thr)
c.87608A>C (p.Lys29203Thr)
c.69224A>C (p.Lys23075Thr)
c.90719A>C (p.Lys30240Thr)
c.90716A>C (p.Lys30239Thr)
c.90149A>C (p.Lys30050Thr)
c.87491A>C (p.Lys29164Thr)
c.87410A>C (p.Lys29137Thr)
c.69173A>C (p.Lys23058Thr)
c.59027A>C (p.Lys19676Thr)
2g.178543867T>ACA349450585TTN,TTN-AS1c.88573A>T (p.Lys29525Ter)
c.69658A>T (p.Lys23220Ter)
c.69457A>T (p.Lys23153Ter)
c.69082A>T (p.Lys23028Ter)
c.96277A>T (p.Lys32093Ter)
c.91354A>T (p.Lys30452Ter)
n.446+20231T>A
n.2043+1506T>A
c.95374A>T (p.Lys31792Ter)
c.69268A>T (p.Lys23090Ter)
c.69127A>T (p.Lys23043Ter)
c.95170A>T (p.Lys31724Ter)
c.90568A>T (p.Lys30190Ter)
c.90565A>T (p.Lys30189Ter)
c.87607A>T (p.Lys29203Ter)
c.69223A>T (p.Lys23075Ter)
c.90718A>T (p.Lys30240Ter)
c.90715A>T (p.Lys30239Ter)
c.90148A>T (p.Lys30050Ter)
c.87490A>T (p.Lys29164Ter)
c.87409A>T (p.Lys29137Ter)
c.69172A>T (p.Lys23058Ter)
c.59026A>T (p.Lys19676Ter)
 gnomAD v4
2g.178543867T>CCA349450591TTN,TTN-AS1c.88573A>G (p.Lys29525Glu)
c.69658A>G (p.Lys23220Glu)
c.69457A>G (p.Lys23153Glu)
c.69082A>G (p.Lys23028Glu)
c.96277A>G (p.Lys32093Glu)
c.91354A>G (p.Lys30452Glu)
n.446+20231T>C
n.2043+1506T>C
c.95374A>G (p.Lys31792Glu)
c.69268A>G (p.Lys23090Glu)
c.69127A>G (p.Lys23043Glu)
c.95170A>G (p.Lys31724Glu)
c.90568A>G (p.Lys30190Glu)
c.90565A>G (p.Lys30189Glu)
c.87607A>G (p.Lys29203Glu)
c.69223A>G (p.Lys23075Glu)
c.90718A>G (p.Lys30240Glu)
c.90715A>G (p.Lys30239Glu)
c.90148A>G (p.Lys30050Glu)
c.87490A>G (p.Lys29164Glu)
c.87409A>G (p.Lys29137Glu)
c.69172A>G (p.Lys23058Glu)
c.59026A>G (p.Lys19676Glu)
2g.178543867T>GCA349450594TTN,TTN-AS1c.88573A>C (p.Lys29525Gln)
c.69658A>C (p.Lys23220Gln)
c.69457A>C (p.Lys23153Gln)
c.69082A>C (p.Lys23028Gln)
c.96277A>C (p.Lys32093Gln)
c.91354A>C (p.Lys30452Gln)
n.446+20231T>G
n.2043+1506T>G
c.95374A>C (p.Lys31792Gln)
c.69268A>C (p.Lys23090Gln)
c.69127A>C (p.Lys23043Gln)
c.95170A>C (p.Lys31724Gln)
c.90568A>C (p.Lys30190Gln)
c.90565A>C (p.Lys30189Gln)
c.87607A>C (p.Lys29203Gln)
c.69223A>C (p.Lys23075Gln)
c.90718A>C (p.Lys30240Gln)
c.90715A>C (p.Lys30239Gln)
c.90148A>C (p.Lys30050Gln)
c.87490A>C (p.Lys29164Gln)
c.87409A>C (p.Lys29137Gln)
c.69172A>C (p.Lys23058Gln)
c.59026A>C (p.Lys19676Gln)
2g.178543868G>ACA430241497TTN,TTN-AS1c.88572C>T (p.Gly29524=)
c.69657C>T (p.Gly23219=)
c.69456C>T (p.Gly23152=)
c.69081C>T (p.Gly23027=)
c.96276C>T (p.Gly32092=)
c.91353C>T (p.Gly30451=)
n.446+20232G>A
n.2043+1507G>A
c.95373C>T (p.Gly31791=)
c.69267C>T (p.Gly23089=)
c.69126C>T (p.Gly23042=)
c.95169C>T (p.Gly31723=)
c.90567C>T (p.Gly30189=)
c.90564C>T (p.Gly30188=)
c.87606C>T (p.Gly29202=)
c.69222C>T (p.Gly23074=)
c.90717C>T (p.Gly30239=)
c.90714C>T (p.Gly30238=)
c.90147C>T (p.Gly30049=)
c.87489C>T (p.Gly29163=)
c.87408C>T (p.Gly29136=)
c.69171C>T (p.Gly23057=)
c.59025C>T (p.Gly19675=)
2g.178543868G>CCA430241499TTN,TTN-AS1c.88572C>G (p.Gly29524=)
c.69657C>G (p.Gly23219=)
c.69456C>G (p.Gly23152=)
c.69081C>G (p.Gly23027=)
c.96276C>G (p.Gly32092=)
c.91353C>G (p.Gly30451=)
n.446+20232G>C
n.2043+1507G>C
c.95373C>G (p.Gly31791=)
c.69267C>G (p.Gly23089=)
c.69126C>G (p.Gly23042=)
c.95169C>G (p.Gly31723=)
c.90567C>G (p.Gly30189=)
c.90564C>G (p.Gly30188=)
c.87606C>G (p.Gly29202=)
c.69222C>G (p.Gly23074=)
c.90717C>G (p.Gly30239=)
c.90714C>G (p.Gly30238=)
c.90147C>G (p.Gly30049=)
c.87489C>G (p.Gly29163=)
c.87408C>G (p.Gly29136=)
c.69171C>G (p.Gly23057=)
c.59025C>G (p.Gly19675=)
2g.178543868G>TCA430241500TTN,TTN-AS1c.88572C>A (p.Gly29524=)
c.69657C>A (p.Gly23219=)
c.69456C>A (p.Gly23152=)
c.69081C>A (p.Gly23027=)
c.96276C>A (p.Gly32092=)
c.91353C>A (p.Gly30451=)
n.446+20232G>T
n.2043+1507G>T
c.95373C>A (p.Gly31791=)
c.69267C>A (p.Gly23089=)
c.69126C>A (p.Gly23042=)
c.95169C>A (p.Gly31723=)
c.90567C>A (p.Gly30189=)
c.90564C>A (p.Gly30188=)
c.87606C>A (p.Gly29202=)
c.69222C>A (p.Gly23074=)
c.90717C>A (p.Gly30239=)
c.90714C>A (p.Gly30238=)
c.90147C>A (p.Gly30049=)
c.87489C>A (p.Gly29163=)
c.87408C>A (p.Gly29136=)
c.69171C>A (p.Gly23057=)
c.59025C>A (p.Gly19675=)
2g.178543869C>ACA349450625TTN,TTN-AS1c.88571G>T (p.Gly29524Val)
c.69656G>T (p.Gly23219Val)
c.69455G>T (p.Gly23152Val)
c.69080G>T (p.Gly23027Val)
c.96275G>T (p.Gly32092Val)
c.91352G>T (p.Gly30451Val)
n.446+20233C>A
n.2043+1508C>A
c.95372G>T (p.Gly31791Val)
c.69266G>T (p.Gly23089Val)
c.69125G>T (p.Gly23042Val)
c.95168G>T (p.Gly31723Val)
c.90566G>T (p.Gly30189Val)
c.90563G>T (p.Gly30188Val)
c.87605G>T (p.Gly29202Val)
c.69221G>T (p.Gly23074Val)
c.90716G>T (p.Gly30239Val)
c.90713G>T (p.Gly30238Val)
c.90146G>T (p.Gly30049Val)
c.87488G>T (p.Gly29163Val)
c.87407G>T (p.Gly29136Val)
c.69170G>T (p.Gly23057Val)
c.59024G>T (p.Gly19675Val)
2g.178543869C=CA1310521134TTN,TTN-AS1c.88571G= (p.Gly29524=)
c.69656G= (p.Gly23219=)
c.69455G= (p.Gly23152=)
c.69080G= (p.Gly23027=)
c.96275G= (p.Gly32092=)
c.91352G= (p.Gly30451=)
n.446+20233C=
n.2043+1508C=
c.95372G= (p.Gly31791=)
c.69266G= (p.Gly23089=)
c.69125G= (p.Gly23042=)
c.95168G= (p.Gly31723=)
c.90566G= (p.Gly30189=)
c.90563G= (p.Gly30188=)
c.87605G= (p.Gly29202=)
c.69221G= (p.Gly23074=)
c.90716G= (p.Gly30239=)
c.90713G= (p.Gly30238=)
c.90146G= (p.Gly30049=)
c.87488G= (p.Gly29163=)
c.87407G= (p.Gly29136=)
c.69170G= (p.Gly23057=)
c.59024G= (p.Gly19675=)
2g.178543869C>GCA349450619TTN,TTN-AS1c.88571G>C (p.Gly29524Ala)
c.69656G>C (p.Gly23219Ala)
c.69455G>C (p.Gly23152Ala)
c.69080G>C (p.Gly23027Ala)
c.96275G>C (p.Gly32092Ala)
c.91352G>C (p.Gly30451Ala)
n.446+20233C>G
n.2043+1508C>G
c.95372G>C (p.Gly31791Ala)
c.69266G>C (p.Gly23089Ala)
c.69125G>C (p.Gly23042Ala)
c.95168G>C (p.Gly31723Ala)
c.90566G>C (p.Gly30189Ala)
c.90563G>C (p.Gly30188Ala)
c.87605G>C (p.Gly29202Ala)
c.69221G>C (p.Gly23074Ala)
c.90716G>C (p.Gly30239Ala)
c.90713G>C (p.Gly30238Ala)
c.90146G>C (p.Gly30049Ala)
c.87488G>C (p.Gly29163Ala)
c.87407G>C (p.Gly29136Ala)
c.69170G>C (p.Gly23057Ala)
c.59024G>C (p.Gly19675Ala)
2g.178543869C>TCA1986789TTN,TTN-AS1c.88571G>A (p.Gly29524Asp)
c.69656G>A (p.Gly23219Asp)
c.69455G>A (p.Gly23152Asp)
c.69080G>A (p.Gly23027Asp)
c.96275G>A (p.Gly32092Asp)
c.91352G>A (p.Gly30451Asp)
n.446+20233C>T
n.2043+1508C>T
c.95372G>A (p.Gly31791Asp)
c.69266G>A (p.Gly23089Asp)
c.69125G>A (p.Gly23042Asp)
c.95168G>A (p.Gly31723Asp)
c.90566G>A (p.Gly30189Asp)
c.90563G>A (p.Gly30188Asp)
c.87605G>A (p.Gly29202Asp)
c.69221G>A (p.Gly23074Asp)
c.90716G>A (p.Gly30239Asp)
c.90713G>A (p.Gly30238Asp)
c.90146G>A (p.Gly30049Asp)
c.87488G>A (p.Gly29163Asp)
c.87407G>A (p.Gly29136Asp)
c.69170G>A (p.Gly23057Asp)
c.59024G>A (p.Gly19675Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543870C>ACA349450628TTN,TTN-AS1c.88570G>T (p.Gly29524Cys)
c.69655G>T (p.Gly23219Cys)
c.69454G>T (p.Gly23152Cys)
c.69079G>T (p.Gly23027Cys)
c.96274G>T (p.Gly32092Cys)
c.91351G>T (p.Gly30451Cys)
n.446+20234C>A
n.2043+1509C>A
c.95371G>T (p.Gly31791Cys)
c.69265G>T (p.Gly23089Cys)
c.69124G>T (p.Gly23042Cys)
c.95167G>T (p.Gly31723Cys)
c.90565G>T (p.Gly30189Cys)
c.90562G>T (p.Gly30188Cys)
c.87604G>T (p.Gly29202Cys)
c.69220G>T (p.Gly23074Cys)
c.90715G>T (p.Gly30239Cys)
c.90712G>T (p.Gly30238Cys)
c.90145G>T (p.Gly30049Cys)
c.87487G>T (p.Gly29163Cys)
c.87406G>T (p.Gly29136Cys)
c.69169G>T (p.Gly23057Cys)
c.59023G>T (p.Gly19675Cys)
2g.178543870C>GCA349450659TTN,TTN-AS1c.88570G>C (p.Gly29524Arg)
c.69655G>C (p.Gly23219Arg)
c.69454G>C (p.Gly23152Arg)
c.69079G>C (p.Gly23027Arg)
c.96274G>C (p.Gly32092Arg)
c.91351G>C (p.Gly30451Arg)
n.446+20234C>G
n.2043+1509C>G
c.95371G>C (p.Gly31791Arg)
c.69265G>C (p.Gly23089Arg)
c.69124G>C (p.Gly23042Arg)
c.95167G>C (p.Gly31723Arg)
c.90565G>C (p.Gly30189Arg)
c.90562G>C (p.Gly30188Arg)
c.87604G>C (p.Gly29202Arg)
c.69220G>C (p.Gly23074Arg)
c.90715G>C (p.Gly30239Arg)
c.90712G>C (p.Gly30238Arg)
c.90145G>C (p.Gly30049Arg)
c.87487G>C (p.Gly29163Arg)
c.87406G>C (p.Gly29136Arg)
c.69169G>C (p.Gly23057Arg)
c.59023G>C (p.Gly19675Arg)
 gnomAD v4
2g.178543870C>TCA349450662TTN,TTN-AS1c.88570G>A (p.Gly29524Ser)
c.69655G>A (p.Gly23219Ser)
c.69454G>A (p.Gly23152Ser)
c.69079G>A (p.Gly23027Ser)
c.96274G>A (p.Gly32092Ser)
c.91351G>A (p.Gly30451Ser)
n.446+20234C>T
n.2043+1509C>T
c.95371G>A (p.Gly31791Ser)
c.69265G>A (p.Gly23089Ser)
c.69124G>A (p.Gly23042Ser)
c.95167G>A (p.Gly31723Ser)
c.90565G>A (p.Gly30189Ser)
c.90562G>A (p.Gly30188Ser)
c.87604G>A (p.Gly29202Ser)
c.69220G>A (p.Gly23074Ser)
c.90715G>A (p.Gly30239Ser)
c.90712G>A (p.Gly30238Ser)
c.90145G>A (p.Gly30049Ser)
c.87487G>A (p.Gly29163Ser)
c.87406G>A (p.Gly29136Ser)
c.69169G>A (p.Gly23057Ser)
c.59023G>A (p.Gly19675Ser)
2g.178543871A>CCA430241509TTN,TTN-AS1c.88569T>G (p.Ser29523=)
c.69654T>G (p.Ser23218=)
c.69453T>G (p.Ser23151=)
c.69078T>G (p.Ser23026=)
c.96273T>G (p.Ser32091=)
c.91350T>G (p.Ser30450=)
n.446+20235A>C
n.2043+1510A>C
c.95370T>G (p.Ser31790=)
c.69264T>G (p.Ser23088=)
c.69123T>G (p.Ser23041=)
c.95166T>G (p.Ser31722=)
c.90564T>G (p.Ser30188=)
c.90561T>G (p.Ser30187=)
c.87603T>G (p.Ser29201=)
c.69219T>G (p.Ser23073=)
c.90714T>G (p.Ser30238=)
c.90711T>G (p.Ser30237=)
c.90144T>G (p.Ser30048=)
c.87486T>G (p.Ser29162=)
c.87405T>G (p.Ser29135=)
c.69168T>G (p.Ser23056=)
c.59022T>G (p.Ser19674=)
2g.178543871A>GCA430241511TTN,TTN-AS1c.88569T>C (p.Ser29523=)
c.69654T>C (p.Ser23218=)
c.69453T>C (p.Ser23151=)
c.69078T>C (p.Ser23026=)
c.96273T>C (p.Ser32091=)
c.91350T>C (p.Ser30450=)
n.446+20235A>G
n.2043+1510A>G
c.95370T>C (p.Ser31790=)
c.69264T>C (p.Ser23088=)
c.69123T>C (p.Ser23041=)
c.95166T>C (p.Ser31722=)
c.90564T>C (p.Ser30188=)
c.90561T>C (p.Ser30187=)
c.87603T>C (p.Ser29201=)
c.69219T>C (p.Ser23073=)
c.90714T>C (p.Ser30238=)
c.90711T>C (p.Ser30237=)
c.90144T>C (p.Ser30048=)
c.87486T>C (p.Ser29162=)
c.87405T>C (p.Ser29135=)
c.69168T>C (p.Ser23056=)
c.59022T>C (p.Ser19674=)
2g.178543871A>TCA430241512TTN,TTN-AS1c.88569T>A (p.Ser29523=)
c.69654T>A (p.Ser23218=)
c.69453T>A (p.Ser23151=)
c.69078T>A (p.Ser23026=)
c.96273T>A (p.Ser32091=)
c.91350T>A (p.Ser30450=)
n.446+20235A>T
n.2043+1510A>T
c.95370T>A (p.Ser31790=)
c.69264T>A (p.Ser23088=)
c.69123T>A (p.Ser23041=)
c.95166T>A (p.Ser31722=)
c.90564T>A (p.Ser30188=)
c.90561T>A (p.Ser30187=)
c.87603T>A (p.Ser29201=)
c.69219T>A (p.Ser23073=)
c.90714T>A (p.Ser30238=)
c.90711T>A (p.Ser30237=)
c.90144T>A (p.Ser30048=)
c.87486T>A (p.Ser29162=)
c.87405T>A (p.Ser29135=)
c.69168T>A (p.Ser23056=)
c.59022T>A (p.Ser19674=)
2g.178543872G>ACA349450673TTN,TTN-AS1c.88568C>T (p.Ser29523Phe)
c.69653C>T (p.Ser23218Phe)
c.69452C>T (p.Ser23151Phe)
c.69077C>T (p.Ser23026Phe)
c.96272C>T (p.Ser32091Phe)
c.91349C>T (p.Ser30450Phe)
n.446+20236G>A
n.2043+1511G>A
c.95369C>T (p.Ser31790Phe)
c.69263C>T (p.Ser23088Phe)
c.69122C>T (p.Ser23041Phe)
c.95165C>T (p.Ser31722Phe)
c.90563C>T (p.Ser30188Phe)
c.90560C>T (p.Ser30187Phe)
c.87602C>T (p.Ser29201Phe)
c.69218C>T (p.Ser23073Phe)
c.90713C>T (p.Ser30238Phe)
c.90710C>T (p.Ser30237Phe)
c.90143C>T (p.Ser30048Phe)
c.87485C>T (p.Ser29162Phe)
c.87404C>T (p.Ser29135Phe)
c.69167C>T (p.Ser23056Phe)
c.59021C>T (p.Ser19674Phe)
2g.178543872G>CCA349450678TTN,TTN-AS1c.88568C>G (p.Ser29523Cys)
c.69653C>G (p.Ser23218Cys)
c.69452C>G (p.Ser23151Cys)
c.69077C>G (p.Ser23026Cys)
c.96272C>G (p.Ser32091Cys)
c.91349C>G (p.Ser30450Cys)
n.446+20236G>C
n.2043+1511G>C
c.95369C>G (p.Ser31790Cys)
c.69263C>G (p.Ser23088Cys)
c.69122C>G (p.Ser23041Cys)
c.95165C>G (p.Ser31722Cys)
c.90563C>G (p.Ser30188Cys)
c.90560C>G (p.Ser30187Cys)
c.87602C>G (p.Ser29201Cys)
c.69218C>G (p.Ser23073Cys)
c.90713C>G (p.Ser30238Cys)
c.90710C>G (p.Ser30237Cys)
c.90143C>G (p.Ser30048Cys)
c.87485C>G (p.Ser29162Cys)
c.87404C>G (p.Ser29135Cys)
c.69167C>G (p.Ser23056Cys)
c.59021C>G (p.Ser19674Cys)
2g.178543872G>TCA349450698TTN,TTN-AS1c.88568C>A (p.Ser29523Tyr)
c.69653C>A (p.Ser23218Tyr)
c.69452C>A (p.Ser23151Tyr)
c.69077C>A (p.Ser23026Tyr)
c.96272C>A (p.Ser32091Tyr)
c.91349C>A (p.Ser30450Tyr)
n.446+20236G>T
n.2043+1511G>T
c.95369C>A (p.Ser31790Tyr)
c.69263C>A (p.Ser23088Tyr)
c.69122C>A (p.Ser23041Tyr)
c.95165C>A (p.Ser31722Tyr)
c.90563C>A (p.Ser30188Tyr)
c.90560C>A (p.Ser30187Tyr)
c.87602C>A (p.Ser29201Tyr)
c.69218C>A (p.Ser23073Tyr)
c.90713C>A (p.Ser30238Tyr)
c.90710C>A (p.Ser30237Tyr)
c.90143C>A (p.Ser30048Tyr)
c.87485C>A (p.Ser29162Tyr)
c.87404C>A (p.Ser29135Tyr)
c.69167C>A (p.Ser23056Tyr)
c.59021C>A (p.Ser19674Tyr)
2g.178543873A>CCA349450704TTN,TTN-AS1c.88567T>G (p.Ser29523Ala)
c.69652T>G (p.Ser23218Ala)
c.69451T>G (p.Ser23151Ala)
c.69076T>G (p.Ser23026Ala)
c.96271T>G (p.Ser32091Ala)
c.91348T>G (p.Ser30450Ala)
n.446+20237A>C
n.2043+1512A>C
c.95368T>G (p.Ser31790Ala)
c.69262T>G (p.Ser23088Ala)
c.69121T>G (p.Ser23041Ala)
c.95164T>G (p.Ser31722Ala)
c.90562T>G (p.Ser30188Ala)
c.90559T>G (p.Ser30187Ala)
c.87601T>G (p.Ser29201Ala)
c.69217T>G (p.Ser23073Ala)
c.90712T>G (p.Ser30238Ala)
c.90709T>G (p.Ser30237Ala)
c.90142T>G (p.Ser30048Ala)
c.87484T>G (p.Ser29162Ala)
c.87403T>G (p.Ser29135Ala)
c.69166T>G (p.Ser23056Ala)
c.59020T>G (p.Ser19674Ala)
2g.178543873A>GCA349450711TTN,TTN-AS1c.88567T>C (p.Ser29523Pro)
c.69652T>C (p.Ser23218Pro)
c.69451T>C (p.Ser23151Pro)
c.69076T>C (p.Ser23026Pro)
c.96271T>C (p.Ser32091Pro)
c.91348T>C (p.Ser30450Pro)
n.446+20237A>G
n.2043+1512A>G
c.95368T>C (p.Ser31790Pro)
c.69262T>C (p.Ser23088Pro)
c.69121T>C (p.Ser23041Pro)
c.95164T>C (p.Ser31722Pro)
c.90562T>C (p.Ser30188Pro)
c.90559T>C (p.Ser30187Pro)
c.87601T>C (p.Ser29201Pro)
c.69217T>C (p.Ser23073Pro)
c.90712T>C (p.Ser30238Pro)
c.90709T>C (p.Ser30237Pro)
c.90142T>C (p.Ser30048Pro)
c.87484T>C (p.Ser29162Pro)
c.87403T>C (p.Ser29135Pro)
c.69166T>C (p.Ser23056Pro)
c.59020T>C (p.Ser19674Pro)
2g.178543873A>TCA349450713TTN,TTN-AS1c.88567T>A (p.Ser29523Thr)
c.69652T>A (p.Ser23218Thr)
c.69451T>A (p.Ser23151Thr)
c.69076T>A (p.Ser23026Thr)
c.96271T>A (p.Ser32091Thr)
c.91348T>A (p.Ser30450Thr)
n.446+20237A>T
n.2043+1512A>T
c.95368T>A (p.Ser31790Thr)
c.69262T>A (p.Ser23088Thr)
c.69121T>A (p.Ser23041Thr)
c.95164T>A (p.Ser31722Thr)
c.90562T>A (p.Ser30188Thr)
c.90559T>A (p.Ser30187Thr)
c.87601T>A (p.Ser29201Thr)
c.69217T>A (p.Ser23073Thr)
c.90712T>A (p.Ser30238Thr)
c.90709T>A (p.Ser30237Thr)
c.90142T>A (p.Ser30048Thr)
c.87484T>A (p.Ser29162Thr)
c.87403T>A (p.Ser29135Thr)
c.69166T>A (p.Ser23056Thr)
c.59020T>A (p.Ser19674Thr)
2g.178543874T>ACA349450716TTN,TTN-AS1c.88566A>T (p.Gln29522His)
c.69651A>T (p.Gln23217His)
c.69450A>T (p.Gln23150His)
c.69075A>T (p.Gln23025His)
c.96270A>T (p.Gln32090His)
c.91347A>T (p.Gln30449His)
n.446+20238T>A
n.2043+1513T>A
c.95367A>T (p.Gln31789His)
c.69261A>T (p.Gln23087His)
c.69120A>T (p.Gln23040His)
c.95163A>T (p.Gln31721His)
c.90561A>T (p.Gln30187His)
c.90558A>T (p.Gln30186His)
c.87600A>T (p.Gln29200His)
c.69216A>T (p.Gln23072His)
c.90711A>T (p.Gln30237His)
c.90708A>T (p.Gln30236His)
c.90141A>T (p.Gln30047His)
c.87483A>T (p.Gln29161His)
c.87402A>T (p.Gln29134His)
c.69165A>T (p.Gln23055His)
c.59019A>T (p.Gln19673His)
2g.178543874T>CCA430241520TTN,TTN-AS1c.88566A>G (p.Gln29522=)
c.69651A>G (p.Gln23217=)
c.69450A>G (p.Gln23150=)
c.69075A>G (p.Gln23025=)
c.96270A>G (p.Gln32090=)
c.91347A>G (p.Gln30449=)
n.446+20238T>C
n.2043+1513T>C
c.95367A>G (p.Gln31789=)
c.69261A>G (p.Gln23087=)
c.69120A>G (p.Gln23040=)
c.95163A>G (p.Gln31721=)
c.90561A>G (p.Gln30187=)
c.90558A>G (p.Gln30186=)
c.87600A>G (p.Gln29200=)
c.69216A>G (p.Gln23072=)
c.90711A>G (p.Gln30237=)
c.90708A>G (p.Gln30236=)
c.90141A>G (p.Gln30047=)
c.87483A>G (p.Gln29161=)
c.87402A>G (p.Gln29134=)
c.69165A>G (p.Gln23055=)
c.59019A>G (p.Gln19673=)
 ClinVar dbSNP
2g.178543874T>GCA349450719TTN,TTN-AS1c.88566A>C (p.Gln29522His)
c.69651A>C (p.Gln23217His)
c.69450A>C (p.Gln23150His)
c.69075A>C (p.Gln23025His)
c.96270A>C (p.Gln32090His)
c.91347A>C (p.Gln30449His)
n.446+20238T>G
n.2043+1513T>G
c.95367A>C (p.Gln31789His)
c.69261A>C (p.Gln23087His)
c.69120A>C (p.Gln23040His)
c.95163A>C (p.Gln31721His)
c.90561A>C (p.Gln30187His)
c.90558A>C (p.Gln30186His)
c.87600A>C (p.Gln29200His)
c.69216A>C (p.Gln23072His)
c.90711A>C (p.Gln30237His)
c.90708A>C (p.Gln30236His)
c.90141A>C (p.Gln30047His)
c.87483A>C (p.Gln29161His)
c.87402A>C (p.Gln29134His)
c.69165A>C (p.Gln23055His)
c.59019A>C (p.Gln19673His)
2g.178543875T>ACA349450733TTN,TTN-AS1c.88565A>T (p.Gln29522Leu)
c.69650A>T (p.Gln23217Leu)
c.69449A>T (p.Gln23150Leu)
c.69074A>T (p.Gln23025Leu)
c.96269A>T (p.Gln32090Leu)
c.91346A>T (p.Gln30449Leu)
n.446+20239T>A
n.2043+1514T>A
c.95366A>T (p.Gln31789Leu)
c.69260A>T (p.Gln23087Leu)
c.69119A>T (p.Gln23040Leu)
c.95162A>T (p.Gln31721Leu)
c.90560A>T (p.Gln30187Leu)
c.90557A>T (p.Gln30186Leu)
c.87599A>T (p.Gln29200Leu)
c.69215A>T (p.Gln23072Leu)
c.90710A>T (p.Gln30237Leu)
c.90707A>T (p.Gln30236Leu)
c.90140A>T (p.Gln30047Leu)
c.87482A>T (p.Gln29161Leu)
c.87401A>T (p.Gln29134Leu)
c.69164A>T (p.Gln23055Leu)
c.59018A>T (p.Gln19673Leu)
2g.178543875T>CCA349450732TTN,TTN-AS1c.88565A>G (p.Gln29522Arg)
c.69650A>G (p.Gln23217Arg)
c.69449A>G (p.Gln23150Arg)
c.69074A>G (p.Gln23025Arg)
c.96269A>G (p.Gln32090Arg)
c.91346A>G (p.Gln30449Arg)
n.446+20239T>C
n.2043+1514T>C
c.95366A>G (p.Gln31789Arg)
c.69260A>G (p.Gln23087Arg)
c.69119A>G (p.Gln23040Arg)
c.95162A>G (p.Gln31721Arg)
c.90560A>G (p.Gln30187Arg)
c.90557A>G (p.Gln30186Arg)
c.87599A>G (p.Gln29200Arg)
c.69215A>G (p.Gln23072Arg)
c.90710A>G (p.Gln30237Arg)
c.90707A>G (p.Gln30236Arg)
c.90140A>G (p.Gln30047Arg)
c.87482A>G (p.Gln29161Arg)
c.87401A>G (p.Gln29134Arg)
c.69164A>G (p.Gln23055Arg)
c.59018A>G (p.Gln19673Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543875T>GCA349450726TTN,TTN-AS1c.88565A>C (p.Gln29522Pro)
c.69650A>C (p.Gln23217Pro)
c.69449A>C (p.Gln23150Pro)
c.69074A>C (p.Gln23025Pro)
c.96269A>C (p.Gln32090Pro)
c.91346A>C (p.Gln30449Pro)
n.446+20239T>G
n.2043+1514T>G
c.95366A>C (p.Gln31789Pro)
c.69260A>C (p.Gln23087Pro)
c.69119A>C (p.Gln23040Pro)
c.95162A>C (p.Gln31721Pro)
c.90560A>C (p.Gln30187Pro)
c.90557A>C (p.Gln30186Pro)
c.87599A>C (p.Gln29200Pro)
c.69215A>C (p.Gln23072Pro)
c.90710A>C (p.Gln30237Pro)
c.90707A>C (p.Gln30236Pro)
c.90140A>C (p.Gln30047Pro)
c.87482A>C (p.Gln29161Pro)
c.87401A>C (p.Gln29134Pro)
c.69164A>C (p.Gln23055Pro)
c.59018A>C (p.Gln19673Pro)
2g.178543875T=CA1310521136TTN,TTN-AS1c.88565A= (p.Gln29522=)
c.69650A= (p.Gln23217=)
c.69449A= (p.Gln23150=)
c.69074A= (p.Gln23025=)
c.96269A= (p.Gln32090=)
c.91346A= (p.Gln30449=)
n.446+20239T=
n.2043+1514T=
c.95366A= (p.Gln31789=)
c.69260A= (p.Gln23087=)
c.69119A= (p.Gln23040=)
c.95162A= (p.Gln31721=)
c.90560A= (p.Gln30187=)
c.90557A= (p.Gln30186=)
c.87599A= (p.Gln29200=)
c.69215A= (p.Gln23072=)
c.90710A= (p.Gln30237=)
c.90707A= (p.Gln30236=)
c.90140A= (p.Gln30047=)
c.87482A= (p.Gln29161=)
c.87401A= (p.Gln29134=)
c.69164A= (p.Gln23055=)
c.59018A= (p.Gln19673=)
2g.178543876G>ACA10576457TTN,TTN-AS1c.88564C>T (p.Gln29522Ter)
c.69649C>T (p.Gln23217Ter)
c.69448C>T (p.Gln23150Ter)
c.69073C>T (p.Gln23025Ter)
c.96268C>T (p.Gln32090Ter)
c.91345C>T (p.Gln30449Ter)
n.446+20240G>A
n.2043+1515G>A
c.95365C>T (p.Gln31789Ter)
c.69259C>T (p.Gln23087Ter)
c.69118C>T (p.Gln23040Ter)
c.95161C>T (p.Gln31721Ter)
c.90559C>T (p.Gln30187Ter)
c.90556C>T (p.Gln30186Ter)
c.87598C>T (p.Gln29200Ter)
c.69214C>T (p.Gln23072Ter)
c.90709C>T (p.Gln30237Ter)
c.90706C>T (p.Gln30236Ter)
c.90139C>T (p.Gln30047Ter)
c.87481C>T (p.Gln29161Ter)
c.87400C>T (p.Gln29134Ter)
c.69163C>T (p.Gln23055Ter)
c.59017C>T (p.Gln19673Ter)
 ClinVar dbSNP
2g.178543876G>CCA349450738TTN,TTN-AS1c.88564C>G (p.Gln29522Glu)
c.69649C>G (p.Gln23217Glu)
c.69448C>G (p.Gln23150Glu)
c.69073C>G (p.Gln23025Glu)
c.96268C>G (p.Gln32090Glu)
c.91345C>G (p.Gln30449Glu)
n.446+20240G>C
n.2043+1515G>C
c.95365C>G (p.Gln31789Glu)
c.69259C>G (p.Gln23087Glu)
c.69118C>G (p.Gln23040Glu)
c.95161C>G (p.Gln31721Glu)
c.90559C>G (p.Gln30187Glu)
c.90556C>G (p.Gln30186Glu)
c.87598C>G (p.Gln29200Glu)
c.69214C>G (p.Gln23072Glu)
c.90709C>G (p.Gln30237Glu)
c.90706C>G (p.Gln30236Glu)
c.90139C>G (p.Gln30047Glu)
c.87481C>G (p.Gln29161Glu)
c.87400C>G (p.Gln29134Glu)
c.69163C>G (p.Gln23055Glu)
c.59017C>G (p.Gln19673Glu)
2g.178543876G=CA1310521139TTN,TTN-AS1c.88564C= (p.Gln29522=)
c.69649C= (p.Gln23217=)
c.69448C= (p.Gln23150=)
c.69073C= (p.Gln23025=)
c.96268C= (p.Gln32090=)
c.91345C= (p.Gln30449=)
n.446+20240G=
n.2043+1515G=
c.95365C= (p.Gln31789=)
c.69259C= (p.Gln23087=)
c.69118C= (p.Gln23040=)
c.95161C= (p.Gln31721=)
c.90559C= (p.Gln30187=)
c.90556C= (p.Gln30186=)
c.87598C= (p.Gln29200=)
c.69214C= (p.Gln23072=)
c.90709C= (p.Gln30237=)
c.90706C= (p.Gln30236=)
c.90139C= (p.Gln30047=)
c.87481C= (p.Gln29161=)
c.87400C= (p.Gln29134=)
c.69163C= (p.Gln23055=)
c.59017C= (p.Gln19673=)
2g.178543876G>TCA349450741TTN,TTN-AS1c.88564C>A (p.Gln29522Lys)
c.69649C>A (p.Gln23217Lys)
c.69448C>A (p.Gln23150Lys)
c.69073C>A (p.Gln23025Lys)
c.96268C>A (p.Gln32090Lys)
c.91345C>A (p.Gln30449Lys)
n.446+20240G>T
n.2043+1515G>T
c.95365C>A (p.Gln31789Lys)
c.69259C>A (p.Gln23087Lys)
c.69118C>A (p.Gln23040Lys)
c.95161C>A (p.Gln31721Lys)
c.90559C>A (p.Gln30187Lys)
c.90556C>A (p.Gln30186Lys)
c.87598C>A (p.Gln29200Lys)
c.69214C>A (p.Gln23072Lys)
c.90709C>A (p.Gln30237Lys)
c.90706C>A (p.Gln30236Lys)
c.90139C>A (p.Gln30047Lys)
c.87481C>A (p.Gln29161Lys)
c.87400C>A (p.Gln29134Lys)
c.69163C>A (p.Gln23055Lys)
c.59017C>A (p.Gln19673Lys)
2g.178543877G>ACA430241528TTN,TTN-AS1c.88563C>T (p.Asn29521=)
c.69648C>T (p.Asn23216=)
c.69447C>T (p.Asn23149=)
c.69072C>T (p.Asn23024=)
c.96267C>T (p.Asn32089=)
c.91344C>T (p.Asn30448=)
n.446+20241G>A
n.2043+1516G>A
c.95364C>T (p.Asn31788=)
c.69258C>T (p.Asn23086=)
c.69117C>T (p.Asn23039=)
c.95160C>T (p.Asn31720=)
c.90558C>T (p.Asn30186=)
c.90555C>T (p.Asn30185=)
c.87597C>T (p.Asn29199=)
c.69213C>T (p.Asn23071=)
c.90708C>T (p.Asn30236=)
c.90705C>T (p.Asn30235=)
c.90138C>T (p.Asn30046=)
c.87480C>T (p.Asn29160=)
c.87399C>T (p.Asn29133=)
c.69162C>T (p.Asn23054=)
c.59016C>T (p.Asn19672=)
2g.178543877G>CCA349450746TTN,TTN-AS1c.88563C>G (p.Asn29521Lys)
c.69648C>G (p.Asn23216Lys)
c.69447C>G (p.Asn23149Lys)
c.69072C>G (p.Asn23024Lys)
c.96267C>G (p.Asn32089Lys)
c.91344C>G (p.Asn30448Lys)
n.446+20241G>C
n.2043+1516G>C
c.95364C>G (p.Asn31788Lys)
c.69258C>G (p.Asn23086Lys)
c.69117C>G (p.Asn23039Lys)
c.95160C>G (p.Asn31720Lys)
c.90558C>G (p.Asn30186Lys)
c.90555C>G (p.Asn30185Lys)
c.87597C>G (p.Asn29199Lys)
c.69213C>G (p.Asn23071Lys)
c.90708C>G (p.Asn30236Lys)
c.90705C>G (p.Asn30235Lys)
c.90138C>G (p.Asn30046Lys)
c.87480C>G (p.Asn29160Lys)
c.87399C>G (p.Asn29133Lys)
c.69162C>G (p.Asn23054Lys)
c.59016C>G (p.Asn19672Lys)
2g.178543877G=CA1310521141TTN,TTN-AS1c.88563C= (p.Asn29521=)
c.69648C= (p.Asn23216=)
c.69447C= (p.Asn23149=)
c.69072C= (p.Asn23024=)
c.96267C= (p.Asn32089=)
c.91344C= (p.Asn30448=)
n.446+20241G=
n.2043+1516G=
c.95364C= (p.Asn31788=)
c.69258C= (p.Asn23086=)
c.69117C= (p.Asn23039=)
c.95160C= (p.Asn31720=)
c.90558C= (p.Asn30186=)
c.90555C= (p.Asn30185=)
c.87597C= (p.Asn29199=)
c.69213C= (p.Asn23071=)
c.90708C= (p.Asn30236=)
c.90705C= (p.Asn30235=)
c.90138C= (p.Asn30046=)
c.87480C= (p.Asn29160=)
c.87399C= (p.Asn29133=)
c.69162C= (p.Asn23054=)
c.59016C= (p.Asn19672=)
2g.178543877G>TCA349450765TTN,TTN-AS1c.88563C>A (p.Asn29521Lys)
c.69648C>A (p.Asn23216Lys)
c.69447C>A (p.Asn23149Lys)
c.69072C>A (p.Asn23024Lys)
c.96267C>A (p.Asn32089Lys)
c.91344C>A (p.Asn30448Lys)
n.446+20241G>T
n.2043+1516G>T
c.95364C>A (p.Asn31788Lys)
c.69258C>A (p.Asn23086Lys)
c.69117C>A (p.Asn23039Lys)
c.95160C>A (p.Asn31720Lys)
c.90558C>A (p.Asn30186Lys)
c.90555C>A (p.Asn30185Lys)
c.87597C>A (p.Asn29199Lys)
c.69213C>A (p.Asn23071Lys)
c.90708C>A (p.Asn30236Lys)
c.90705C>A (p.Asn30235Lys)
c.90138C>A (p.Asn30046Lys)
c.87480C>A (p.Asn29160Lys)
c.87399C>A (p.Asn29133Lys)
c.69162C>A (p.Asn23054Lys)
c.59016C>A (p.Asn19672Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178543878T>ACA349450769TTN,TTN-AS1c.88562A>T (p.Asn29521Ile)
c.69647A>T (p.Asn23216Ile)
c.69446A>T (p.Asn23149Ile)
c.69071A>T (p.Asn23024Ile)
c.96266A>T (p.Asn32089Ile)
c.91343A>T (p.Asn30448Ile)
n.446+20242T>A
n.2043+1517T>A
c.95363A>T (p.Asn31788Ile)
c.69257A>T (p.Asn23086Ile)
c.69116A>T (p.Asn23039Ile)
c.95159A>T (p.Asn31720Ile)
c.90557A>T (p.Asn30186Ile)
c.90554A>T (p.Asn30185Ile)
c.87596A>T (p.Asn29199Ile)
c.69212A>T (p.Asn23071Ile)
c.90707A>T (p.Asn30236Ile)
c.90704A>T (p.Asn30235Ile)
c.90137A>T (p.Asn30046Ile)
c.87479A>T (p.Asn29160Ile)
c.87398A>T (p.Asn29133Ile)
c.69161A>T (p.Asn23054Ile)
c.59015A>T (p.Asn19672Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178543878T>CCA349450786TTN,TTN-AS1c.88562A>G (p.Asn29521Ser)
c.69647A>G (p.Asn23216Ser)
c.69446A>G (p.Asn23149Ser)
c.69071A>G (p.Asn23024Ser)
c.96266A>G (p.Asn32089Ser)
c.91343A>G (p.Asn30448Ser)
n.446+20242T>C
n.2043+1517T>C
c.95363A>G (p.Asn31788Ser)
c.69257A>G (p.Asn23086Ser)
c.69116A>G (p.Asn23039Ser)
c.95159A>G (p.Asn31720Ser)
c.90557A>G (p.Asn30186Ser)
c.90554A>G (p.Asn30185Ser)
c.87596A>G (p.Asn29199Ser)
c.69212A>G (p.Asn23071Ser)
c.90707A>G (p.Asn30236Ser)
c.90704A>G (p.Asn30235Ser)
c.90137A>G (p.Asn30046Ser)
c.87479A>G (p.Asn29160Ser)
c.87398A>G (p.Asn29133Ser)
c.69161A>G (p.Asn23054Ser)
c.59015A>G (p.Asn19672Ser)
2g.178543878T>GCA349450789TTN,TTN-AS1c.88562A>C (p.Asn29521Thr)
c.69647A>C (p.Asn23216Thr)
c.69446A>C (p.Asn23149Thr)
c.69071A>C (p.Asn23024Thr)
c.96266A>C (p.Asn32089Thr)
c.91343A>C (p.Asn30448Thr)
n.446+20242T>G
n.2043+1517T>G
c.95363A>C (p.Asn31788Thr)
c.69257A>C (p.Asn23086Thr)
c.69116A>C (p.Asn23039Thr)
c.95159A>C (p.Asn31720Thr)
c.90557A>C (p.Asn30186Thr)
c.90554A>C (p.Asn30185Thr)
c.87596A>C (p.Asn29199Thr)
c.69212A>C (p.Asn23071Thr)
c.90707A>C (p.Asn30236Thr)
c.90704A>C (p.Asn30235Thr)
c.90137A>C (p.Asn30046Thr)
c.87479A>C (p.Asn29160Thr)
c.87398A>C (p.Asn29133Thr)
c.69161A>C (p.Asn23054Thr)
c.59015A>C (p.Asn19672Thr)
2g.178543881dupCA1139657379TTN,TTN-AS1c.88562dup (p.Asn29521LysfsTer13)
c.69647dup (p.Asn23216LysfsTer13)
c.69446dup (p.Asn23149LysfsTer13)
c.69071dup (p.Asn23024LysfsTer13)
c.96266dup (p.Asn32089LysfsTer13)
c.91343dup (p.Asn30448LysfsTer13)
n.446+20245dup
n.2043+1520dup
c.95363dup (p.Asn31788LysfsTer13)
c.69257dup (p.Asn23086LysfsTer13)
c.69116dup (p.Asn23039LysfsTer13)
c.95159dup (p.Asn31720LysfsTer13)
c.90557dup (p.Asn30186LysfsTer13)
c.90554dup (p.Asn30185LysfsTer13)
c.87596dup (p.Asn29199LysfsTer13)
c.69212dup (p.Asn23071LysfsTer13)
c.90707dup (p.Asn30236LysfsTer13)
c.90704dup (p.Asn30235LysfsTer13)
c.90137dup (p.Asn30046LysfsTer13)
c.87479dup (p.Asn29160LysfsTer13)
c.87398dup (p.Asn29133LysfsTer13)
c.69161dup (p.Asn23054LysfsTer13)
c.59015dup (p.Asn19672LysfsTer13)
 ClinVar dbSNP
2g.178543881delCA645528607TTN,TTN-AS1c.88562del (p.Asn29521ThrfsTer24)
c.69647del (p.Asn23216ThrfsTer24)
c.69446del (p.Asn23149ThrfsTer24)
c.69071del (p.Asn23024ThrfsTer24)
c.96266del (p.Asn32089ThrfsTer24)
c.91343del (p.Asn30448ThrfsTer24)
n.446+20245del
n.2043+1520del
c.95363del (p.Asn31788ThrfsTer24)
c.69257del (p.Asn23086ThrfsTer24)
c.69116del (p.Asn23039ThrfsTer24)
c.95159del (p.Asn31720ThrfsTer24)
c.90557del (p.Asn30186ThrfsTer24)
c.90554del (p.Asn30185ThrfsTer24)
c.87596del (p.Asn29199ThrfsTer24)
c.69212del (p.Asn23071ThrfsTer24)
c.90707del (p.Asn30236ThrfsTer24)
c.90704del (p.Asn30235ThrfsTer24)
c.90137del (p.Asn30046ThrfsTer24)
c.87479del (p.Asn29160ThrfsTer24)
c.87398del (p.Asn29133ThrfsTer24)
c.69161del (p.Asn23054ThrfsTer24)
c.59015del (p.Asn19672ThrfsTer24)
 COSMIC COSMIC COSMIC COSMIC
2g.178543879T>ACA349450792TTN,TTN-AS1c.88561A>T (p.Asn29521Tyr)
c.69646A>T (p.Asn23216Tyr)
c.69445A>T (p.Asn23149Tyr)
c.69070A>T (p.Asn23024Tyr)
c.96265A>T (p.Asn32089Tyr)
c.91342A>T (p.Asn30448Tyr)
n.446+20243T>A
n.2043+1518T>A
c.95362A>T (p.Asn31788Tyr)
c.69256A>T (p.Asn23086Tyr)
c.69115A>T (p.Asn23039Tyr)
c.95158A>T (p.Asn31720Tyr)
c.90556A>T (p.Asn30186Tyr)
c.90553A>T (p.Asn30185Tyr)
c.87595A>T (p.Asn29199Tyr)
c.69211A>T (p.Asn23071Tyr)
c.90706A>T (p.Asn30236Tyr)
c.90703A>T (p.Asn30235Tyr)
c.90136A>T (p.Asn30046Tyr)
c.87478A>T (p.Asn29160Tyr)
c.87397A>T (p.Asn29133Tyr)
c.69160A>T (p.Asn23054Tyr)
c.59014A>T (p.Asn19672Tyr)
2g.178543879T>CCA349450793TTN,TTN-AS1c.88561A>G (p.Asn29521Asp)
c.69646A>G (p.Asn23216Asp)
c.69445A>G (p.Asn23149Asp)
c.69070A>G (p.Asn23024Asp)
c.96265A>G (p.Asn32089Asp)
c.91342A>G (p.Asn30448Asp)
n.446+20243T>C
n.2043+1518T>C
c.95362A>G (p.Asn31788Asp)
c.69256A>G (p.Asn23086Asp)
c.69115A>G (p.Asn23039Asp)
c.95158A>G (p.Asn31720Asp)
c.90556A>G (p.Asn30186Asp)
c.90553A>G (p.Asn30185Asp)
c.87595A>G (p.Asn29199Asp)
c.69211A>G (p.Asn23071Asp)
c.90706A>G (p.Asn30236Asp)
c.90703A>G (p.Asn30235Asp)
c.90136A>G (p.Asn30046Asp)
c.87478A>G (p.Asn29160Asp)
c.87397A>G (p.Asn29133Asp)
c.69160A>G (p.Asn23054Asp)
c.59014A>G (p.Asn19672Asp)
2g.178543879T>GCA349450802TTN,TTN-AS1c.88561A>C (p.Asn29521His)
c.69646A>C (p.Asn23216His)
c.69445A>C (p.Asn23149His)
c.69070A>C (p.Asn23024His)
c.96265A>C (p.Asn32089His)
c.91342A>C (p.Asn30448His)
n.446+20243T>G
n.2043+1518T>G
c.95362A>C (p.Asn31788His)
c.69256A>C (p.Asn23086His)
c.69115A>C (p.Asn23039His)
c.95158A>C (p.Asn31720His)
c.90556A>C (p.Asn30186His)
c.90553A>C (p.Asn30185His)
c.87595A>C (p.Asn29199His)
c.69211A>C (p.Asn23071His)
c.90706A>C (p.Asn30236His)
c.90703A>C (p.Asn30235His)
c.90136A>C (p.Asn30046His)
c.87478A>C (p.Asn29160His)
c.87397A>C (p.Asn29133His)
c.69160A>C (p.Asn23054His)
c.59014A>C (p.Asn19672His)
2g.178543880T>ACA349450806TTN,TTN-AS1c.88560A>T (p.Glu29520Asp)
c.69645A>T (p.Glu23215Asp)
c.69444A>T (p.Glu23148Asp)
c.69069A>T (p.Glu23023Asp)
c.96264A>T (p.Glu32088Asp)
c.91341A>T (p.Glu30447Asp)
n.446+20244T>A
n.2043+1519T>A
c.95361A>T (p.Glu31787Asp)
c.69255A>T (p.Glu23085Asp)
c.69114A>T (p.Glu23038Asp)
c.95157A>T (p.Glu31719Asp)
c.90555A>T (p.Glu30185Asp)
c.90552A>T (p.Glu30184Asp)
c.87594A>T (p.Glu29198Asp)
c.69210A>T (p.Glu23070Asp)
c.90705A>T (p.Glu30235Asp)
c.90702A>T (p.Glu30234Asp)
c.90135A>T (p.Glu30045Asp)
c.87477A>T (p.Glu29159Asp)
c.87396A>T (p.Glu29132Asp)
c.69159A>T (p.Glu23053Asp)
c.59013A>T (p.Glu19671Asp)
2g.178543880T>CCA430241532TTN,TTN-AS1c.88560A>G (p.Glu29520=)
c.69645A>G (p.Glu23215=)
c.69444A>G (p.Glu23148=)
c.69069A>G (p.Glu23023=)
c.96264A>G (p.Glu32088=)
c.91341A>G (p.Glu30447=)
n.446+20244T>C
n.2043+1519T>C
c.95361A>G (p.Glu31787=)
c.69255A>G (p.Glu23085=)
c.69114A>G (p.Glu23038=)
c.95157A>G (p.Glu31719=)
c.90555A>G (p.Glu30185=)
c.90552A>G (p.Glu30184=)
c.87594A>G (p.Glu29198=)
c.69210A>G (p.Glu23070=)
c.90705A>G (p.Glu30235=)
c.90702A>G (p.Glu30234=)
c.90135A>G (p.Glu30045=)
c.87477A>G (p.Glu29159=)
c.87396A>G (p.Glu29132=)
c.69159A>G (p.Glu23053=)
c.59013A>G (p.Glu19671=)
2g.178543880T>GCA349450813TTN,TTN-AS1c.88560A>C (p.Glu29520Asp)
c.69645A>C (p.Glu23215Asp)
c.69444A>C (p.Glu23148Asp)
c.69069A>C (p.Glu23023Asp)
c.96264A>C (p.Glu32088Asp)
c.91341A>C (p.Glu30447Asp)
n.446+20244T>G
n.2043+1519T>G
c.95361A>C (p.Glu31787Asp)
c.69255A>C (p.Glu23085Asp)
c.69114A>C (p.Glu23038Asp)
c.95157A>C (p.Glu31719Asp)
c.90555A>C (p.Glu30185Asp)
c.90552A>C (p.Glu30184Asp)
c.87594A>C (p.Glu29198Asp)
c.69210A>C (p.Glu23070Asp)
c.90705A>C (p.Glu30235Asp)
c.90702A>C (p.Glu30234Asp)
c.90135A>C (p.Glu30045Asp)
c.87477A>C (p.Glu29159Asp)
c.87396A>C (p.Glu29132Asp)
c.69159A>C (p.Glu23053Asp)
c.59013A>C (p.Glu19671Asp)
2g.178543881T>ACA349450829TTN,TTN-AS1c.88559A>T (p.Glu29520Val)
c.69644A>T (p.Glu23215Val)
c.69443A>T (p.Glu23148Val)
c.69068A>T (p.Glu23023Val)
c.96263A>T (p.Glu32088Val)
c.91340A>T (p.Glu30447Val)
n.446+20245T>A
n.2043+1520T>A
c.95360A>T (p.Glu31787Val)
c.69254A>T (p.Glu23085Val)
c.69113A>T (p.Glu23038Val)
c.95156A>T (p.Glu31719Val)
c.90554A>T (p.Glu30185Val)
c.90551A>T (p.Glu30184Val)
c.87593A>T (p.Glu29198Val)
c.69209A>T (p.Glu23070Val)
c.90704A>T (p.Glu30235Val)
c.90701A>T (p.Glu30234Val)
c.90134A>T (p.Glu30045Val)
c.87476A>T (p.Glu29159Val)
c.87395A>T (p.Glu29132Val)
c.69158A>T (p.Glu23053Val)
c.59012A>T (p.Glu19671Val)
2g.178543881T>CCA349450819TTN,TTN-AS1c.88559A>G (p.Glu29520Gly)
c.69644A>G (p.Glu23215Gly)
c.69443A>G (p.Glu23148Gly)
c.69068A>G (p.Glu23023Gly)
c.96263A>G (p.Glu32088Gly)
c.91340A>G (p.Glu30447Gly)
n.446+20245T>C
n.2043+1520T>C
c.95360A>G (p.Glu31787Gly)
c.69254A>G (p.Glu23085Gly)
c.69113A>G (p.Glu23038Gly)
c.95156A>G (p.Glu31719Gly)
c.90554A>G (p.Glu30185Gly)
c.90551A>G (p.Glu30184Gly)
c.87593A>G (p.Glu29198Gly)
c.69209A>G (p.Glu23070Gly)
c.90704A>G (p.Glu30235Gly)
c.90701A>G (p.Glu30234Gly)
c.90134A>G (p.Glu30045Gly)
c.87476A>G (p.Glu29159Gly)
c.87395A>G (p.Glu29132Gly)
c.69158A>G (p.Glu23053Gly)
c.59012A>G (p.Glu19671Gly)
 gnomAD v4
2g.178543881T>GCA349450822TTN,TTN-AS1c.88559A>C (p.Glu29520Ala)
c.69644A>C (p.Glu23215Ala)
c.69443A>C (p.Glu23148Ala)
c.69068A>C (p.Glu23023Ala)
c.96263A>C (p.Glu32088Ala)
c.91340A>C (p.Glu30447Ala)
n.446+20245T>G
n.2043+1520T>G
c.95360A>C (p.Glu31787Ala)
c.69254A>C (p.Glu23085Ala)
c.69113A>C (p.Glu23038Ala)
c.95156A>C (p.Glu31719Ala)
c.90554A>C (p.Glu30185Ala)
c.90551A>C (p.Glu30184Ala)
c.87593A>C (p.Glu29198Ala)
c.69209A>C (p.Glu23070Ala)
c.90704A>C (p.Glu30235Ala)
c.90701A>C (p.Glu30234Ala)
c.90134A>C (p.Glu30045Ala)
c.87476A>C (p.Glu29159Ala)
c.87395A>C (p.Glu29132Ala)
c.69158A>C (p.Glu23053Ala)
c.59012A>C (p.Glu19671Ala)
2g.178543882C>ACA349450833TTN,TTN-AS1c.88558G>T (p.Glu29520Ter)
c.69643G>T (p.Glu23215Ter)
c.69442G>T (p.Glu23148Ter)
c.69067G>T (p.Glu23023Ter)
c.96262G>T (p.Glu32088Ter)
c.91339G>T (p.Glu30447Ter)
n.446+20246C>A
n.2043+1521C>A
c.95359G>T (p.Glu31787Ter)
c.69253G>T (p.Glu23085Ter)
c.69112G>T (p.Glu23038Ter)
c.95155G>T (p.Glu31719Ter)
c.90553G>T (p.Glu30185Ter)
c.90550G>T (p.Glu30184Ter)
c.87592G>T (p.Glu29198Ter)
c.69208G>T (p.Glu23070Ter)
c.90703G>T (p.Glu30235Ter)
c.90700G>T (p.Glu30234Ter)
c.90133G>T (p.Glu30045Ter)
c.87475G>T (p.Glu29159Ter)
c.87394G>T (p.Glu29132Ter)
c.69157G>T (p.Glu23053Ter)
c.59011G>T (p.Glu19671Ter)
2g.178543882C=CA1310521144TTN,TTN-AS1c.88558G= (p.Glu29520=)
c.69643G= (p.Glu23215=)
c.69442G= (p.Glu23148=)
c.69067G= (p.Glu23023=)
c.96262G= (p.Glu32088=)
c.91339G= (p.Glu30447=)
n.446+20246C=
n.2043+1521C=
c.95359G= (p.Glu31787=)
c.69253G= (p.Glu23085=)
c.69112G= (p.Glu23038=)
c.95155G= (p.Glu31719=)
c.90553G= (p.Glu30185=)
c.90550G= (p.Glu30184=)
c.87592G= (p.Glu29198=)
c.69208G= (p.Glu23070=)
c.90703G= (p.Glu30235=)
c.90700G= (p.Glu30234=)
c.90133G= (p.Glu30045=)
c.87475G= (p.Glu29159=)
c.87394G= (p.Glu29132=)
c.69157G= (p.Glu23053=)
c.59011G= (p.Glu19671=)
2g.178543882C>GCA349450835TTN,TTN-AS1c.88558G>C (p.Glu29520Gln)
c.69643G>C (p.Glu23215Gln)
c.69442G>C (p.Glu23148Gln)
c.69067G>C (p.Glu23023Gln)
c.96262G>C (p.Glu32088Gln)
c.91339G>C (p.Glu30447Gln)
n.446+20246C>G
n.2043+1521C>G
c.95359G>C (p.Glu31787Gln)
c.69253G>C (p.Glu23085Gln)
c.69112G>C (p.Glu23038Gln)
c.95155G>C (p.Glu31719Gln)
c.90553G>C (p.Glu30185Gln)
c.90550G>C (p.Glu30184Gln)
c.87592G>C (p.Glu29198Gln)
c.69208G>C (p.Glu23070Gln)
c.90703G>C (p.Glu30235Gln)
c.90700G>C (p.Glu30234Gln)
c.90133G>C (p.Glu30045Gln)
c.87475G>C (p.Glu29159Gln)
c.87394G>C (p.Glu29132Gln)
c.69157G>C (p.Glu23053Gln)
c.59011G>C (p.Glu19671Gln)
2g.178543882C>TCA349450837TTN,TTN-AS1c.88558G>A (p.Glu29520Lys)
c.69643G>A (p.Glu23215Lys)
c.69442G>A (p.Glu23148Lys)
c.69067G>A (p.Glu23023Lys)
c.96262G>A (p.Glu32088Lys)
c.91339G>A (p.Glu30447Lys)
n.446+20246C>T
n.2043+1521C>T
c.95359G>A (p.Glu31787Lys)
c.69253G>A (p.Glu23085Lys)
c.69112G>A (p.Glu23038Lys)
c.95155G>A (p.Glu31719Lys)
c.90553G>A (p.Glu30185Lys)
c.90550G>A (p.Glu30184Lys)
c.87592G>A (p.Glu29198Lys)
c.69208G>A (p.Glu23070Lys)
c.90703G>A (p.Glu30235Lys)
c.90700G>A (p.Glu30234Lys)
c.90133G>A (p.Glu30045Lys)
c.87475G>A (p.Glu29159Lys)
c.87394G>A (p.Glu29132Lys)
c.69157G>A (p.Glu23053Lys)
c.59011G>A (p.Glu19671Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178543883A>CCA430241542TTN,TTN-AS1c.88557T>G (p.Ala29519=)
c.69642T>G (p.Ala23214=)
c.69441T>G (p.Ala23147=)
c.69066T>G (p.Ala23022=)
c.96261T>G (p.Ala32087=)
c.91338T>G (p.Ala30446=)
n.446+20247A>C
n.2043+1522A>C
c.95358T>G (p.Ala31786=)
c.69252T>G (p.Ala23084=)
c.69111T>G (p.Ala23037=)
c.95154T>G (p.Ala31718=)
c.90552T>G (p.Ala30184=)
c.90549T>G (p.Ala30183=)
c.87591T>G (p.Ala29197=)
c.69207T>G (p.Ala23069=)
c.90702T>G (p.Ala30234=)
c.90699T>G (p.Ala30233=)
c.90132T>G (p.Ala30044=)
c.87474T>G (p.Ala29158=)
c.87393T>G (p.Ala29131=)
c.69156T>G (p.Ala23052=)
c.59010T>G (p.Ala19670=)
2g.178543883A>GCA430241544TTN,TTN-AS1c.88557T>C (p.Ala29519=)
c.69642T>C (p.Ala23214=)
c.69441T>C (p.Ala23147=)
c.69066T>C (p.Ala23022=)
c.96261T>C (p.Ala32087=)
c.91338T>C (p.Ala30446=)
n.446+20247A>G
n.2043+1522A>G
c.95358T>C (p.Ala31786=)
c.69252T>C (p.Ala23084=)
c.69111T>C (p.Ala23037=)
c.95154T>C (p.Ala31718=)
c.90552T>C (p.Ala30184=)
c.90549T>C (p.Ala30183=)
c.87591T>C (p.Ala29197=)
c.69207T>C (p.Ala23069=)
c.90702T>C (p.Ala30234=)
c.90699T>C (p.Ala30233=)
c.90132T>C (p.Ala30044=)
c.87474T>C (p.Ala29158=)
c.87393T>C (p.Ala29131=)
c.69156T>C (p.Ala23052=)
c.59010T>C (p.Ala19670=)
2g.178543883A>TCA430241545TTN,TTN-AS1c.88557T>A (p.Ala29519=)
c.69642T>A (p.Ala23214=)
c.69441T>A (p.Ala23147=)
c.69066T>A (p.Ala23022=)
c.96261T>A (p.Ala32087=)
c.91338T>A (p.Ala30446=)
n.446+20247A>T
n.2043+1522A>T
c.95358T>A (p.Ala31786=)
c.69252T>A (p.Ala23084=)
c.69111T>A (p.Ala23037=)
c.95154T>A (p.Ala31718=)
c.90552T>A (p.Ala30184=)
c.90549T>A (p.Ala30183=)
c.87591T>A (p.Ala29197=)
c.69207T>A (p.Ala23069=)
c.90702T>A (p.Ala30234=)
c.90699T>A (p.Ala30233=)
c.90132T>A (p.Ala30044=)
c.87474T>A (p.Ala29158=)
c.87393T>A (p.Ala29131=)
c.69156T>A (p.Ala23052=)
c.59010T>A (p.Ala19670=)
2g.178543884G>ACA349450839TTN,TTN-AS1c.88556C>T (p.Ala29519Val)
c.69641C>T (p.Ala23214Val)
c.69440C>T (p.Ala23147Val)
c.69065C>T (p.Ala23022Val)
c.96260C>T (p.Ala32087Val)
c.91337C>T (p.Ala30446Val)
n.446+20248G>A
n.2043+1523G>A
c.95357C>T (p.Ala31786Val)
c.69251C>T (p.Ala23084Val)
c.69110C>T (p.Ala23037Val)
c.95153C>T (p.Ala31718Val)
c.90551C>T (p.Ala30184Val)
c.90548C>T (p.Ala30183Val)
c.87590C>T (p.Ala29197Val)
c.69206C>T (p.Ala23069Val)
c.90701C>T (p.Ala30234Val)
c.90698C>T (p.Ala30233Val)
c.90131C>T (p.Ala30044Val)
c.87473C>T (p.Ala29158Val)
c.87392C>T (p.Ala29131Val)
c.69155C>T (p.Ala23052Val)
c.59009C>T (p.Ala19670Val)
2g.178543884G>CCA349450843TTN,TTN-AS1c.88556C>G (p.Ala29519Gly)
c.69641C>G (p.Ala23214Gly)
c.69440C>G (p.Ala23147Gly)
c.69065C>G (p.Ala23022Gly)
c.96260C>G (p.Ala32087Gly)
c.91337C>G (p.Ala30446Gly)
n.446+20248G>C
n.2043+1523G>C
c.95357C>G (p.Ala31786Gly)
c.69251C>G (p.Ala23084Gly)
c.69110C>G (p.Ala23037Gly)
c.95153C>G (p.Ala31718Gly)
c.90551C>G (p.Ala30184Gly)
c.90548C>G (p.Ala30183Gly)
c.87590C>G (p.Ala29197Gly)
c.69206C>G (p.Ala23069Gly)
c.90701C>G (p.Ala30234Gly)
c.90698C>G (p.Ala30233Gly)
c.90131C>G (p.Ala30044Gly)
c.87473C>G (p.Ala29158Gly)
c.87392C>G (p.Ala29131Gly)
c.69155C>G (p.Ala23052Gly)
c.59009C>G (p.Ala19670Gly)
 ClinVar dbSNP
2g.178543884G=CA1310521146TTN,TTN-AS1c.88556C= (p.Ala29519=)
c.69641C= (p.Ala23214=)
c.69440C= (p.Ala23147=)
c.69065C= (p.Ala23022=)
c.96260C= (p.Ala32087=)
c.91337C= (p.Ala30446=)
n.446+20248G=
n.2043+1523G=
c.95357C= (p.Ala31786=)
c.69251C= (p.Ala23084=)
c.69110C= (p.Ala23037=)
c.95153C= (p.Ala31718=)
c.90551C= (p.Ala30184=)
c.90548C= (p.Ala30183=)
c.87590C= (p.Ala29197=)
c.69206C= (p.Ala23069=)
c.90701C= (p.Ala30234=)
c.90698C= (p.Ala30233=)
c.90131C= (p.Ala30044=)
c.87473C= (p.Ala29158=)
c.87392C= (p.Ala29131=)
c.69155C= (p.Ala23052=)
c.59009C= (p.Ala19670=)
2g.178543884G>TCA349450850TTN,TTN-AS1c.88556C>A (p.Ala29519Asp)
c.69641C>A (p.Ala23214Asp)
c.69440C>A (p.Ala23147Asp)
c.69065C>A (p.Ala23022Asp)
c.96260C>A (p.Ala32087Asp)
c.91337C>A (p.Ala30446Asp)
n.446+20248G>T
n.2043+1523G>T
c.95357C>A (p.Ala31786Asp)
c.69251C>A (p.Ala23084Asp)
c.69110C>A (p.Ala23037Asp)
c.95153C>A (p.Ala31718Asp)
c.90551C>A (p.Ala30184Asp)
c.90548C>A (p.Ala30183Asp)
c.87590C>A (p.Ala29197Asp)
c.69206C>A (p.Ala23069Asp)
c.90701C>A (p.Ala30234Asp)
c.90698C>A (p.Ala30233Asp)
c.90131C>A (p.Ala30044Asp)
c.87473C>A (p.Ala29158Asp)
c.87392C>A (p.Ala29131Asp)
c.69155C>A (p.Ala23052Asp)
c.59009C>A (p.Ala19670Asp)
2g.178543885C>ACA349450857TTN,TTN-AS1c.88555G>T (p.Ala29519Ser)
c.69640G>T (p.Ala23214Ser)
c.69439G>T (p.Ala23147Ser)
c.69064G>T (p.Ala23022Ser)
c.96259G>T (p.Ala32087Ser)
c.91336G>T (p.Ala30446Ser)
n.446+20249C>A
n.2043+1524C>A
c.95356G>T (p.Ala31786Ser)
c.69250G>T (p.Ala23084Ser)
c.69109G>T (p.Ala23037Ser)
c.95152G>T (p.Ala31718Ser)
c.90550G>T (p.Ala30184Ser)
c.90547G>T (p.Ala30183Ser)
c.87589G>T (p.Ala29197Ser)
c.69205G>T (p.Ala23069Ser)
c.90700G>T (p.Ala30234Ser)
c.90697G>T (p.Ala30233Ser)
c.90130G>T (p.Ala30044Ser)
c.87472G>T (p.Ala29158Ser)
c.87391G>T (p.Ala29131Ser)
c.69154G>T (p.Ala23052Ser)
c.59008G>T (p.Ala19670Ser)
 gnomAD v4
2g.178543885C=CA1310521147TTN,TTN-AS1c.88555G= (p.Ala29519=)
c.69640G= (p.Ala23214=)
c.69439G= (p.Ala23147=)
c.69064G= (p.Ala23022=)
c.96259G= (p.Ala32087=)
c.91336G= (p.Ala30446=)
n.446+20249C=
n.2043+1524C=
c.95356G= (p.Ala31786=)
c.69250G= (p.Ala23084=)
c.69109G= (p.Ala23037=)
c.95152G= (p.Ala31718=)
c.90550G= (p.Ala30184=)
c.90547G= (p.Ala30183=)
c.87589G= (p.Ala29197=)
c.69205G= (p.Ala23069=)
c.90700G= (p.Ala30234=)
c.90697G= (p.Ala30233=)
c.90130G= (p.Ala30044=)
c.87472G= (p.Ala29158=)
c.87391G= (p.Ala29131=)
c.69154G= (p.Ala23052=)
c.59008G= (p.Ala19670=)
2g.178543885C>GCA349450860TTN,TTN-AS1c.88555G>C (p.Ala29519Pro)
c.69640G>C (p.Ala23214Pro)
c.69439G>C (p.Ala23147Pro)
c.69064G>C (p.Ala23022Pro)
c.96259G>C (p.Ala32087Pro)
c.91336G>C (p.Ala30446Pro)
n.446+20249C>G
n.2043+1524C>G
c.95356G>C (p.Ala31786Pro)
c.69250G>C (p.Ala23084Pro)
c.69109G>C (p.Ala23037Pro)
c.95152G>C (p.Ala31718Pro)
c.90550G>C (p.Ala30184Pro)
c.90547G>C (p.Ala30183Pro)
c.87589G>C (p.Ala29197Pro)
c.69205G>C (p.Ala23069Pro)
c.90700G>C (p.Ala30234Pro)
c.90697G>C (p.Ala30233Pro)
c.90130G>C (p.Ala30044Pro)
c.87472G>C (p.Ala29158Pro)
c.87391G>C (p.Ala29131Pro)
c.69154G>C (p.Ala23052Pro)
c.59008G>C (p.Ala19670Pro)
2g.178543885C>TCA349450863TTN,TTN-AS1c.88555G>A (p.Ala29519Thr)
c.69640G>A (p.Ala23214Thr)
c.69439G>A (p.Ala23147Thr)
c.69064G>A (p.Ala23022Thr)
c.96259G>A (p.Ala32087Thr)
c.91336G>A (p.Ala30446Thr)
n.446+20249C>T
n.2043+1524C>T
c.95356G>A (p.Ala31786Thr)
c.69250G>A (p.Ala23084Thr)
c.69109G>A (p.Ala23037Thr)
c.95152G>A (p.Ala31718Thr)
c.90550G>A (p.Ala30184Thr)
c.90547G>A (p.Ala30183Thr)
c.87589G>A (p.Ala29197Thr)
c.69205G>A (p.Ala23069Thr)
c.90700G>A (p.Ala30234Thr)
c.90697G>A (p.Ala30233Thr)
c.90130G>A (p.Ala30044Thr)
c.87472G>A (p.Ala29158Thr)
c.87391G>A (p.Ala29131Thr)
c.69154G>A (p.Ala23052Thr)
c.59008G>A (p.Ala19670Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178543886T>ACA349450880TTN,TTN-AS1c.88554A>T (p.Glu29518Asp)
c.69639A>T (p.Glu23213Asp)
c.69438A>T (p.Glu23146Asp)
c.69063A>T (p.Glu23021Asp)
c.96258A>T (p.Glu32086Asp)
c.91335A>T (p.Glu30445Asp)
n.446+20250T>A
n.2043+1525T>A
c.95355A>T (p.Glu31785Asp)
c.69249A>T (p.Glu23083Asp)
c.69108A>T (p.Glu23036Asp)
c.95151A>T (p.Glu31717Asp)
c.90549A>T (p.Glu30183Asp)
c.90546A>T (p.Glu30182Asp)
c.87588A>T (p.Glu29196Asp)
c.69204A>T (p.Glu23068Asp)
c.90699A>T (p.Glu30233Asp)
c.90696A>T (p.Glu30232Asp)
c.90129A>T (p.Glu30043Asp)
c.87471A>T (p.Glu29157Asp)
c.87390A>T (p.Glu29130Asp)
c.69153A>T (p.Glu23051Asp)
c.59007A>T (p.Glu19669Asp)
2g.178543886T>CCA430241556TTN,TTN-AS1c.88554A>G (p.Glu29518=)
c.69639A>G (p.Glu23213=)
c.69438A>G (p.Glu23146=)
c.69063A>G (p.Glu23021=)
c.96258A>G (p.Glu32086=)
c.91335A>G (p.Glu30445=)
n.446+20250T>C
n.2043+1525T>C
c.95355A>G (p.Glu31785=)
c.69249A>G (p.Glu23083=)
c.69108A>G (p.Glu23036=)
c.95151A>G (p.Glu31717=)
c.90549A>G (p.Glu30183=)
c.90546A>G (p.Glu30182=)
c.87588A>G (p.Glu29196=)
c.69204A>G (p.Glu23068=)
c.90699A>G (p.Glu30233=)
c.90696A>G (p.Glu30232=)
c.90129A>G (p.Glu30043=)
c.87471A>G (p.Glu29157=)
c.87390A>G (p.Glu29130=)
c.69153A>G (p.Glu23051=)
c.59007A>G (p.Glu19669=)
2g.178543886T>GCA349450882TTN,TTN-AS1c.88554A>C (p.Glu29518Asp)
c.69639A>C (p.Glu23213Asp)
c.69438A>C (p.Glu23146Asp)
c.69063A>C (p.Glu23021Asp)
c.96258A>C (p.Glu32086Asp)
c.91335A>C (p.Glu30445Asp)
n.446+20250T>G
n.2043+1525T>G
c.95355A>C (p.Glu31785Asp)
c.69249A>C (p.Glu23083Asp)
c.69108A>C (p.Glu23036Asp)
c.95151A>C (p.Glu31717Asp)
c.90549A>C (p.Glu30183Asp)
c.90546A>C (p.Glu30182Asp)
c.87588A>C (p.Glu29196Asp)
c.69204A>C (p.Glu23068Asp)
c.90699A>C (p.Glu30233Asp)
c.90696A>C (p.Glu30232Asp)
c.90129A>C (p.Glu30043Asp)
c.87471A>C (p.Glu29157Asp)
c.87390A>C (p.Glu29130Asp)
c.69153A>C (p.Glu23051Asp)
c.59007A>C (p.Glu19669Asp)
2g.178543887T>ACA349450898TTN,TTN-AS1c.88553A>T (p.Glu29518Val)
c.69638A>T (p.Glu23213Val)
c.69437A>T (p.Glu23146Val)
c.69062A>T (p.Glu23021Val)
c.96257A>T (p.Glu32086Val)
c.91334A>T (p.Glu30445Val)
n.446+20251T>A
n.2043+1526T>A
c.95354A>T (p.Glu31785Val)
c.69248A>T (p.Glu23083Val)
c.69107A>T (p.Glu23036Val)
c.95150A>T (p.Glu31717Val)
c.90548A>T (p.Glu30183Val)
c.90545A>T (p.Glu30182Val)
c.87587A>T (p.Glu29196Val)
c.69203A>T (p.Glu23068Val)
c.90698A>T (p.Glu30233Val)
c.90695A>T (p.Glu30232Val)
c.90128A>T (p.Glu30043Val)
c.87470A>T (p.Glu29157Val)
c.87389A>T (p.Glu29130Val)
c.69152A>T (p.Glu23051Val)
c.59006A>T (p.Glu19669Val)
2g.178543887T>CCA349450894TTN,TTN-AS1c.88553A>G (p.Glu29518Gly)
c.69638A>G (p.Glu23213Gly)
c.69437A>G (p.Glu23146Gly)
c.69062A>G (p.Glu23021Gly)
c.96257A>G (p.Glu32086Gly)
c.91334A>G (p.Glu30445Gly)
n.446+20251T>C
n.2043+1526T>C
c.95354A>G (p.Glu31785Gly)
c.69248A>G (p.Glu23083Gly)
c.69107A>G (p.Glu23036Gly)
c.95150A>G (p.Glu31717Gly)
c.90548A>G (p.Glu30183Gly)
c.90545A>G (p.Glu30182Gly)
c.87587A>G (p.Glu29196Gly)
c.69203A>G (p.Glu23068Gly)
c.90698A>G (p.Glu30233Gly)
c.90695A>G (p.Glu30232Gly)
c.90128A>G (p.Glu30043Gly)
c.87470A>G (p.Glu29157Gly)
c.87389A>G (p.Glu29130Gly)
c.69152A>G (p.Glu23051Gly)
c.59006A>G (p.Glu19669Gly)
2g.178543887T>GCA349450890TTN,TTN-AS1c.88553A>C (p.Glu29518Ala)
c.69638A>C (p.Glu23213Ala)
c.69437A>C (p.Glu23146Ala)
c.69062A>C (p.Glu23021Ala)
c.96257A>C (p.Glu32086Ala)
c.91334A>C (p.Glu30445Ala)
n.446+20251T>G
n.2043+1526T>G
c.95354A>C (p.Glu31785Ala)
c.69248A>C (p.Glu23083Ala)
c.69107A>C (p.Glu23036Ala)
c.95150A>C (p.Glu31717Ala)
c.90548A>C (p.Glu30183Ala)
c.90545A>C (p.Glu30182Ala)
c.87587A>C (p.Glu29196Ala)
c.69203A>C (p.Glu23068Ala)
c.90698A>C (p.Glu30233Ala)
c.90695A>C (p.Glu30232Ala)
c.90128A>C (p.Glu30043Ala)
c.87470A>C (p.Glu29157Ala)
c.87389A>C (p.Glu29130Ala)
c.69152A>C (p.Glu23051Ala)
c.59006A>C (p.Glu19669Ala)
2g.178543888C>ACA349450902TTN,TTN-AS1c.88552G>T (p.Glu29518Ter)
c.69637G>T (p.Glu23213Ter)
c.69436G>T (p.Glu23146Ter)
c.69061G>T (p.Glu23021Ter)
c.96256G>T (p.Glu32086Ter)
c.91333G>T (p.Glu30445Ter)
n.446+20252C>A
n.2043+1527C>A
c.95353G>T (p.Glu31785Ter)
c.69247G>T (p.Glu23083Ter)
c.69106G>T (p.Glu23036Ter)
c.95149G>T (p.Glu31717Ter)
c.90547G>T (p.Glu30183Ter)
c.90544G>T (p.Glu30182Ter)
c.87586G>T (p.Glu29196Ter)
c.69202G>T (p.Glu23068Ter)
c.90697G>T (p.Glu30233Ter)
c.90694G>T (p.Glu30232Ter)
c.90127G>T (p.Glu30043Ter)
c.87469G>T (p.Glu29157Ter)
c.87388G>T (p.Glu29130Ter)
c.69151G>T (p.Glu23051Ter)
c.59005G>T (p.Glu19669Ter)
2g.178543888C=CA1310521149TTN,TTN-AS1c.88552G= (p.Glu29518=)
c.69637G= (p.Glu23213=)
c.69436G= (p.Glu23146=)
c.69061G= (p.Glu23021=)
c.96256G= (p.Glu32086=)
c.91333G= (p.Glu30445=)
n.446+20252C=
n.2043+1527C=
c.95353G= (p.Glu31785=)
c.69247G= (p.Glu23083=)
c.69106G= (p.Glu23036=)
c.95149G= (p.Glu31717=)
c.90547G= (p.Glu30183=)
c.90544G= (p.Glu30182=)
c.87586G= (p.Glu29196=)
c.69202G= (p.Glu23068=)
c.90697G= (p.Glu30233=)
c.90694G= (p.Glu30232=)
c.90127G= (p.Glu30043=)
c.87469G= (p.Glu29157=)
c.87388G= (p.Glu29130=)
c.69151G= (p.Glu23051=)
c.59005G= (p.Glu19669=)
2g.178543888C>GCA349450909TTN,TTN-AS1c.88552G>C (p.Glu29518Gln)
c.69637G>C (p.Glu23213Gln)
c.69436G>C (p.Glu23146Gln)
c.69061G>C (p.Glu23021Gln)
c.96256G>C (p.Glu32086Gln)
c.91333G>C (p.Glu30445Gln)
n.446+20252C>G
n.2043+1527C>G
c.95353G>C (p.Glu31785Gln)
c.69247G>C (p.Glu23083Gln)
c.69106G>C (p.Glu23036Gln)
c.95149G>C (p.Glu31717Gln)
c.90547G>C (p.Glu30183Gln)
c.90544G>C (p.Glu30182Gln)
c.87586G>C (p.Glu29196Gln)
c.69202G>C (p.Glu23068Gln)
c.90697G>C (p.Glu30233Gln)
c.90694G>C (p.Glu30232Gln)
c.90127G>C (p.Glu30043Gln)
c.87469G>C (p.Glu29157Gln)
c.87388G>C (p.Glu29130Gln)
c.69151G>C (p.Glu23051Gln)
c.59005G>C (p.Glu19669Gln)
2g.178543888C>TCA1986790TTN,TTN-AS1c.88552G>A (p.Glu29518Lys)
c.69637G>A (p.Glu23213Lys)
c.69436G>A (p.Glu23146Lys)
c.69061G>A (p.Glu23021Lys)
c.96256G>A (p.Glu32086Lys)
c.91333G>A (p.Glu30445Lys)
n.446+20252C>T
n.2043+1527C>T
c.95353G>A (p.Glu31785Lys)
c.69247G>A (p.Glu23083Lys)
c.69106G>A (p.Glu23036Lys)
c.95149G>A (p.Glu31717Lys)
c.90547G>A (p.Glu30183Lys)
c.90544G>A (p.Glu30182Lys)
c.87586G>A (p.Glu29196Lys)
c.69202G>A (p.Glu23068Lys)
c.90697G>A (p.Glu30233Lys)
c.90694G>A (p.Glu30232Lys)
c.90127G>A (p.Glu30043Lys)
c.87469G>A (p.Glu29157Lys)
c.87388G>A (p.Glu29130Lys)
c.69151G>A (p.Glu23051Lys)
c.59005G>A (p.Glu19669Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543889A>CCA349450921TTN,TTN-AS1c.88551T>G (p.Ile29517Met)
c.69636T>G (p.Ile23212Met)
c.69435T>G (p.Ile23145Met)
c.69060T>G (p.Ile23020Met)
c.96255T>G (p.Ile32085Met)
c.91332T>G (p.Ile30444Met)
n.446+20253A>C
n.2043+1528A>C
c.95352T>G (p.Ile31784Met)
c.69246T>G (p.Ile23082Met)
c.69105T>G (p.Ile23035Met)
c.95148T>G (p.Ile31716Met)
c.90546T>G (p.Ile30182Met)
c.90543T>G (p.Ile30181Met)
c.87585T>G (p.Ile29195Met)
c.69201T>G (p.Ile23067Met)
c.90696T>G (p.Ile30232Met)
c.90693T>G (p.Ile30231Met)
c.90126T>G (p.Ile30042Met)
c.87468T>G (p.Ile29156Met)
c.87387T>G (p.Ile29129Met)
c.69150T>G (p.Ile23050Met)
c.59004T>G (p.Ile19668Met)
2g.178543889A>GCA430241564TTN,TTN-AS1c.88551T>C (p.Ile29517=)
c.69636T>C (p.Ile23212=)
c.69435T>C (p.Ile23145=)
c.69060T>C (p.Ile23020=)
c.96255T>C (p.Ile32085=)
c.91332T>C (p.Ile30444=)
n.446+20253A>G
n.2043+1528A>G
c.95352T>C (p.Ile31784=)
c.69246T>C (p.Ile23082=)
c.69105T>C (p.Ile23035=)
c.95148T>C (p.Ile31716=)
c.90546T>C (p.Ile30182=)
c.90543T>C (p.Ile30181=)
c.87585T>C (p.Ile29195=)
c.69201T>C (p.Ile23067=)
c.90696T>C (p.Ile30232=)
c.90693T>C (p.Ile30231=)
c.90126T>C (p.Ile30042=)
c.87468T>C (p.Ile29156=)
c.87387T>C (p.Ile29129=)
c.69150T>C (p.Ile23050=)
c.59004T>C (p.Ile19668=)
2g.178543889A>TCA430241565TTN,TTN-AS1c.88551T>A (p.Ile29517=)
c.69636T>A (p.Ile23212=)
c.69435T>A (p.Ile23145=)
c.69060T>A (p.Ile23020=)
c.96255T>A (p.Ile32085=)
c.91332T>A (p.Ile30444=)
n.446+20253A>T
n.2043+1528A>T
c.95352T>A (p.Ile31784=)
c.69246T>A (p.Ile23082=)
c.69105T>A (p.Ile23035=)
c.95148T>A (p.Ile31716=)
c.90546T>A (p.Ile30182=)
c.90543T>A (p.Ile30181=)
c.87585T>A (p.Ile29195=)
c.69201T>A (p.Ile23067=)
c.90696T>A (p.Ile30232=)
c.90693T>A (p.Ile30231=)
c.90126T>A (p.Ile30042=)
c.87468T>A (p.Ile29156=)
c.87387T>A (p.Ile29129=)
c.69150T>A (p.Ile23050=)
c.59004T>A (p.Ile19668=)
2g.178543890A>CCA349450924TTN,TTN-AS1c.88550T>G (p.Ile29517Ser)
c.69635T>G (p.Ile23212Ser)
c.69434T>G (p.Ile23145Ser)
c.69059T>G (p.Ile23020Ser)
c.96254T>G (p.Ile32085Ser)
c.91331T>G (p.Ile30444Ser)
n.446+20254A>C
n.2043+1529A>C
c.95351T>G (p.Ile31784Ser)
c.69245T>G (p.Ile23082Ser)
c.69104T>G (p.Ile23035Ser)
c.95147T>G (p.Ile31716Ser)
c.90545T>G (p.Ile30182Ser)
c.90542T>G (p.Ile30181Ser)
c.87584T>G (p.Ile29195Ser)
c.69200T>G (p.Ile23067Ser)
c.90695T>G (p.Ile30232Ser)
c.90692T>G (p.Ile30231Ser)
c.90125T>G (p.Ile30042Ser)
c.87467T>G (p.Ile29156Ser)
c.87386T>G (p.Ile29129Ser)
c.69149T>G (p.Ile23050Ser)
c.59003T>G (p.Ile19668Ser)
2g.178543890A>GCA349450925TTN,TTN-AS1c.88550T>C (p.Ile29517Thr)
c.69635T>C (p.Ile23212Thr)
c.69434T>C (p.Ile23145Thr)
c.69059T>C (p.Ile23020Thr)
c.96254T>C (p.Ile32085Thr)
c.91331T>C (p.Ile30444Thr)
n.446+20254A>G
n.2043+1529A>G
c.95351T>C (p.Ile31784Thr)
c.69245T>C (p.Ile23082Thr)
c.69104T>C (p.Ile23035Thr)
c.95147T>C (p.Ile31716Thr)
c.90545T>C (p.Ile30182Thr)
c.90542T>C (p.Ile30181Thr)
c.87584T>C (p.Ile29195Thr)
c.69200T>C (p.Ile23067Thr)
c.90695T>C (p.Ile30232Thr)
c.90692T>C (p.Ile30231Thr)
c.90125T>C (p.Ile30042Thr)
c.87467T>C (p.Ile29156Thr)
c.87386T>C (p.Ile29129Thr)
c.69149T>C (p.Ile23050Thr)
c.59003T>C (p.Ile19668Thr)
 gnomAD v4
2g.178543890A>TCA349450926TTN,TTN-AS1c.88550T>A (p.Ile29517Asn)
c.69635T>A (p.Ile23212Asn)
c.69434T>A (p.Ile23145Asn)
c.69059T>A (p.Ile23020Asn)
c.96254T>A (p.Ile32085Asn)
c.91331T>A (p.Ile30444Asn)
n.446+20254A>T
n.2043+1529A>T
c.95351T>A (p.Ile31784Asn)
c.69245T>A (p.Ile23082Asn)
c.69104T>A (p.Ile23035Asn)
c.95147T>A (p.Ile31716Asn)
c.90545T>A (p.Ile30182Asn)
c.90542T>A (p.Ile30181Asn)
c.87584T>A (p.Ile29195Asn)
c.69200T>A (p.Ile23067Asn)
c.90695T>A (p.Ile30232Asn)
c.90692T>A (p.Ile30231Asn)
c.90125T>A (p.Ile30042Asn)
c.87467T>A (p.Ile29156Asn)
c.87386T>A (p.Ile29129Asn)
c.69149T>A (p.Ile23050Asn)
c.59003T>A (p.Ile19668Asn)
2g.178543891T>ACA349450927TTN,TTN-AS1c.88549A>T (p.Ile29517Phe)
c.69634A>T (p.Ile23212Phe)
c.69433A>T (p.Ile23145Phe)
c.69058A>T (p.Ile23020Phe)
c.96253A>T (p.Ile32085Phe)
c.91330A>T (p.Ile30444Phe)
n.446+20255T>A
n.2043+1530T>A
c.95350A>T (p.Ile31784Phe)
c.69244A>T (p.Ile23082Phe)
c.69103A>T (p.Ile23035Phe)
c.95146A>T (p.Ile31716Phe)
c.90544A>T (p.Ile30182Phe)
c.90541A>T (p.Ile30181Phe)
c.87583A>T (p.Ile29195Phe)
c.69199A>T (p.Ile23067Phe)
c.90694A>T (p.Ile30232Phe)
c.90691A>T (p.Ile30231Phe)
c.90124A>T (p.Ile30042Phe)
c.87466A>T (p.Ile29156Phe)
c.87385A>T (p.Ile29129Phe)
c.69148A>T (p.Ile23050Phe)
c.59002A>T (p.Ile19668Phe)
2g.178543891T>CCA349450928TTN,TTN-AS1c.88549A>G (p.Ile29517Val)
c.69634A>G (p.Ile23212Val)
c.69433A>G (p.Ile23145Val)
c.69058A>G (p.Ile23020Val)
c.96253A>G (p.Ile32085Val)
c.91330A>G (p.Ile30444Val)
n.446+20255T>C
n.2043+1530T>C
c.95350A>G (p.Ile31784Val)
c.69244A>G (p.Ile23082Val)
c.69103A>G (p.Ile23035Val)
c.95146A>G (p.Ile31716Val)
c.90544A>G (p.Ile30182Val)
c.90541A>G (p.Ile30181Val)
c.87583A>G (p.Ile29195Val)
c.69199A>G (p.Ile23067Val)
c.90694A>G (p.Ile30232Val)
c.90691A>G (p.Ile30231Val)
c.90124A>G (p.Ile30042Val)
c.87466A>G (p.Ile29156Val)
c.87385A>G (p.Ile29129Val)
c.69148A>G (p.Ile23050Val)
c.59002A>G (p.Ile19668Val)
2g.178543891T>GCA1986791TTN,TTN-AS1c.88549A>C (p.Ile29517Leu)
c.69634A>C (p.Ile23212Leu)
c.69433A>C (p.Ile23145Leu)
c.69058A>C (p.Ile23020Leu)
c.96253A>C (p.Ile32085Leu)
c.91330A>C (p.Ile30444Leu)
n.446+20255T>G
n.2043+1530T>G
c.95350A>C (p.Ile31784Leu)
c.69244A>C (p.Ile23082Leu)
c.69103A>C (p.Ile23035Leu)
c.95146A>C (p.Ile31716Leu)
c.90544A>C (p.Ile30182Leu)
c.90541A>C (p.Ile30181Leu)
c.87583A>C (p.Ile29195Leu)
c.69199A>C (p.Ile23067Leu)
c.90694A>C (p.Ile30232Leu)
c.90691A>C (p.Ile30231Leu)
c.90124A>C (p.Ile30042Leu)
c.87466A>C (p.Ile29156Leu)
c.87385A>C (p.Ile29129Leu)
c.69148A>C (p.Ile23050Leu)
c.59002A>C (p.Ile19668Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543891T=CA1310521151TTN,TTN-AS1c.88549A= (p.Ile29517=)
c.69634A= (p.Ile23212=)
c.69433A= (p.Ile23145=)
c.69058A= (p.Ile23020=)
c.96253A= (p.Ile32085=)
c.91330A= (p.Ile30444=)
n.446+20255T=
n.2043+1530T=
c.95350A= (p.Ile31784=)
c.69244A= (p.Ile23082=)
c.69103A= (p.Ile23035=)
c.95146A= (p.Ile31716=)
c.90544A= (p.Ile30182=)
c.90541A= (p.Ile30181=)
c.87583A= (p.Ile29195=)
c.69199A= (p.Ile23067=)
c.90694A= (p.Ile30232=)
c.90691A= (p.Ile30231=)
c.90124A= (p.Ile30042=)
c.87466A= (p.Ile29156=)
c.87385A= (p.Ile29129=)
c.69148A= (p.Ile23050=)
c.59002A= (p.Ile19668=)
2g.178543892T>ACA430241572TTN,TTN-AS1c.88548A>T (p.Thr29516=)
c.69633A>T (p.Thr23211=)
c.69432A>T (p.Thr23144=)
c.69057A>T (p.Thr23019=)
c.96252A>T (p.Thr32084=)
c.91329A>T (p.Thr30443=)
n.446+20256T>A
n.2043+1531T>A
c.95349A>T (p.Thr31783=)
c.69243A>T (p.Thr23081=)
c.69102A>T (p.Thr23034=)
c.95145A>T (p.Thr31715=)
c.90543A>T (p.Thr30181=)
c.90540A>T (p.Thr30180=)
c.87582A>T (p.Thr29194=)
c.69198A>T (p.Thr23066=)
c.90693A>T (p.Thr30231=)
c.90690A>T (p.Thr30230=)
c.90123A>T (p.Thr30041=)
c.87465A>T (p.Thr29155=)
c.87384A>T (p.Thr29128=)
c.69147A>T (p.Thr23049=)
c.59001A>T (p.Thr19667=)
 ClinVar dbSNP gnomAD v4
2g.178543892T>CCA141374TTN,TTN-AS1c.88548A>G (p.Thr29516=)
c.69633A>G (p.Thr23211=)
c.69432A>G (p.Thr23144=)
c.69057A>G (p.Thr23019=)
c.96252A>G (p.Thr32084=)
c.91329A>G (p.Thr30443=)
n.446+20256T>C
n.2043+1531T>C
c.95349A>G (p.Thr31783=)
c.69243A>G (p.Thr23081=)
c.69102A>G (p.Thr23034=)
c.95145A>G (p.Thr31715=)
c.90543A>G (p.Thr30181=)
c.90540A>G (p.Thr30180=)
c.87582A>G (p.Thr29194=)
c.69198A>G (p.Thr23066=)
c.90693A>G (p.Thr30231=)
c.90690A>G (p.Thr30230=)
c.90123A>G (p.Thr30041=)
c.87465A>G (p.Thr29155=)
c.87384A>G (p.Thr29128=)
c.69147A>G (p.Thr23049=)
c.59001A>G (p.Thr19667=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543892T>GCA430241573TTN,TTN-AS1c.88548A>C (p.Thr29516=)
c.69633A>C (p.Thr23211=)
c.69432A>C (p.Thr23144=)
c.69057A>C (p.Thr23019=)
c.96252A>C (p.Thr32084=)
c.91329A>C (p.Thr30443=)
n.446+20256T>G
n.2043+1531T>G
c.95349A>C (p.Thr31783=)
c.69243A>C (p.Thr23081=)
c.69102A>C (p.Thr23034=)
c.95145A>C (p.Thr31715=)
c.90543A>C (p.Thr30181=)
c.90540A>C (p.Thr30180=)
c.87582A>C (p.Thr29194=)
c.69198A>C (p.Thr23066=)
c.90693A>C (p.Thr30231=)
c.90690A>C (p.Thr30230=)
c.90123A>C (p.Thr30041=)
c.87465A>C (p.Thr29155=)
c.87384A>C (p.Thr29128=)
c.69147A>C (p.Thr23049=)
c.59001A>C (p.Thr19667=)
2g.178543892T=CA1310521154TTN,TTN-AS1c.88548A= (p.Thr29516=)
c.69633A= (p.Thr23211=)
c.69432A= (p.Thr23144=)
c.69057A= (p.Thr23019=)
c.96252A= (p.Thr32084=)
c.91329A= (p.Thr30443=)
n.446+20256T=
n.2043+1531T=
c.95349A= (p.Thr31783=)
c.69243A= (p.Thr23081=)
c.69102A= (p.Thr23034=)
c.95145A= (p.Thr31715=)
c.90543A= (p.Thr30181=)
c.90540A= (p.Thr30180=)
c.87582A= (p.Thr29194=)
c.69198A= (p.Thr23066=)
c.90693A= (p.Thr30231=)
c.90690A= (p.Thr30230=)
c.90123A= (p.Thr30041=)
c.87465A= (p.Thr29155=)
c.87384A= (p.Thr29128=)
c.69147A= (p.Thr23049=)
c.59001A= (p.Thr19667=)
2g.178543893G>ACA349450930TTN,TTN-AS1c.88547C>T (p.Thr29516Ile)
c.69632C>T (p.Thr23211Ile)
c.69431C>T (p.Thr23144Ile)
c.69056C>T (p.Thr23019Ile)
c.96251C>T (p.Thr32084Ile)
c.91328C>T (p.Thr30443Ile)
n.446+20257G>A
n.2043+1532G>A
c.95348C>T (p.Thr31783Ile)
c.69242C>T (p.Thr23081Ile)
c.69101C>T (p.Thr23034Ile)
c.95144C>T (p.Thr31715Ile)
c.90542C>T (p.Thr30181Ile)
c.90539C>T (p.Thr30180Ile)
c.87581C>T (p.Thr29194Ile)
c.69197C>T (p.Thr23066Ile)
c.90692C>T (p.Thr30231Ile)
c.90689C>T (p.Thr30230Ile)
c.90122C>T (p.Thr30041Ile)
c.87464C>T (p.Thr29155Ile)
c.87383C>T (p.Thr29128Ile)
c.69146C>T (p.Thr23049Ile)
c.59000C>T (p.Thr19667Ile)
 gnomAD v4
2g.178543893G>CCA349450933TTN,TTN-AS1c.88547C>G (p.Thr29516Arg)
c.69632C>G (p.Thr23211Arg)
c.69431C>G (p.Thr23144Arg)
c.69056C>G (p.Thr23019Arg)
c.96251C>G (p.Thr32084Arg)
c.91328C>G (p.Thr30443Arg)
n.446+20257G>C
n.2043+1532G>C
c.95348C>G (p.Thr31783Arg)
c.69242C>G (p.Thr23081Arg)
c.69101C>G (p.Thr23034Arg)
c.95144C>G (p.Thr31715Arg)
c.90542C>G (p.Thr30181Arg)
c.90539C>G (p.Thr30180Arg)
c.87581C>G (p.Thr29194Arg)
c.69197C>G (p.Thr23066Arg)
c.90692C>G (p.Thr30231Arg)
c.90689C>G (p.Thr30230Arg)
c.90122C>G (p.Thr30041Arg)
c.87464C>G (p.Thr29155Arg)
c.87383C>G (p.Thr29128Arg)
c.69146C>G (p.Thr23049Arg)
c.59000C>G (p.Thr19667Arg)
2g.178543893G>TCA349450940TTN,TTN-AS1c.88547C>A (p.Thr29516Lys)
c.69632C>A (p.Thr23211Lys)
c.69431C>A (p.Thr23144Lys)
c.69056C>A (p.Thr23019Lys)
c.96251C>A (p.Thr32084Lys)
c.91328C>A (p.Thr30443Lys)
n.446+20257G>T
n.2043+1532G>T
c.95348C>A (p.Thr31783Lys)
c.69242C>A (p.Thr23081Lys)
c.69101C>A (p.Thr23034Lys)
c.95144C>A (p.Thr31715Lys)
c.90542C>A (p.Thr30181Lys)
c.90539C>A (p.Thr30180Lys)
c.87581C>A (p.Thr29194Lys)
c.69197C>A (p.Thr23066Lys)
c.90692C>A (p.Thr30231Lys)
c.90689C>A (p.Thr30230Lys)
c.90122C>A (p.Thr30041Lys)
c.87464C>A (p.Thr29155Lys)
c.87383C>A (p.Thr29128Lys)
c.69146C>A (p.Thr23049Lys)
c.59000C>A (p.Thr19667Lys)
2g.178543894T>ACA349450945TTN,TTN-AS1c.88546A>T (p.Thr29516Ser)
c.69631A>T (p.Thr23211Ser)
c.69430A>T (p.Thr23144Ser)
c.69055A>T (p.Thr23019Ser)
c.96250A>T (p.Thr32084Ser)
c.91327A>T (p.Thr30443Ser)
n.446+20258T>A
n.2043+1533T>A
c.95347A>T (p.Thr31783Ser)
c.69241A>T (p.Thr23081Ser)
c.69100A>T (p.Thr23034Ser)
c.95143A>T (p.Thr31715Ser)
c.90541A>T (p.Thr30181Ser)
c.90538A>T (p.Thr30180Ser)
c.87580A>T (p.Thr29194Ser)
c.69196A>T (p.Thr23066Ser)
c.90691A>T (p.Thr30231Ser)
c.90688A>T (p.Thr30230Ser)
c.90121A>T (p.Thr30041Ser)
c.87463A>T (p.Thr29155Ser)
c.87382A>T (p.Thr29128Ser)
c.69145A>T (p.Thr23049Ser)
c.58999A>T (p.Thr19667Ser)
2g.178543894T>CCA349450941TTN,TTN-AS1c.88546A>G (p.Thr29516Ala)
c.69631A>G (p.Thr23211Ala)
c.69430A>G (p.Thr23144Ala)
c.69055A>G (p.Thr23019Ala)
c.96250A>G (p.Thr32084Ala)
c.91327A>G (p.Thr30443Ala)
n.446+20258T>C
n.2043+1533T>C
c.95347A>G (p.Thr31783Ala)
c.69241A>G (p.Thr23081Ala)
c.69100A>G (p.Thr23034Ala)
c.95143A>G (p.Thr31715Ala)
c.90541A>G (p.Thr30181Ala)
c.90538A>G (p.Thr30180Ala)
c.87580A>G (p.Thr29194Ala)
c.69196A>G (p.Thr23066Ala)
c.90691A>G (p.Thr30231Ala)
c.90688A>G (p.Thr30230Ala)
c.90121A>G (p.Thr30041Ala)
c.87463A>G (p.Thr29155Ala)
c.87382A>G (p.Thr29128Ala)
c.69145A>G (p.Thr23049Ala)
c.58999A>G (p.Thr19667Ala)
 gnomAD v4
2g.178543894T>GCA349450942TTN,TTN-AS1c.88546A>C (p.Thr29516Pro)
c.69631A>C (p.Thr23211Pro)
c.69430A>C (p.Thr23144Pro)
c.69055A>C (p.Thr23019Pro)
c.96250A>C (p.Thr32084Pro)
c.91327A>C (p.Thr30443Pro)
n.446+20258T>G
n.2043+1533T>G
c.95347A>C (p.Thr31783Pro)
c.69241A>C (p.Thr23081Pro)
c.69100A>C (p.Thr23034Pro)
c.95143A>C (p.Thr31715Pro)
c.90541A>C (p.Thr30181Pro)
c.90538A>C (p.Thr30180Pro)
c.87580A>C (p.Thr29194Pro)
c.69196A>C (p.Thr23066Pro)
c.90691A>C (p.Thr30231Pro)
c.90688A>C (p.Thr30230Pro)
c.90121A>C (p.Thr30041Pro)
c.87463A>C (p.Thr29155Pro)
c.87382A>C (p.Thr29128Pro)
c.69145A>C (p.Thr23049Pro)
c.58999A>C (p.Thr19667Pro)
2g.178543895G>ACA430241581TTN,TTN-AS1c.88545C>T (p.Tyr29515=)
c.69630C>T (p.Tyr23210=)
c.69429C>T (p.Tyr23143=)
c.69054C>T (p.Tyr23018=)
c.96249C>T (p.Tyr32083=)
c.91326C>T (p.Tyr30442=)
n.446+20259G>A
n.2043+1534G>A
c.95346C>T (p.Tyr31782=)
c.69240C>T (p.Tyr23080=)
c.69099C>T (p.Tyr23033=)
c.95142C>T (p.Tyr31714=)
c.90540C>T (p.Tyr30180=)
c.90537C>T (p.Tyr30179=)
c.87579C>T (p.Tyr29193=)
c.69195C>T (p.Tyr23065=)
c.90690C>T (p.Tyr30230=)
c.90687C>T (p.Tyr30229=)
c.90120C>T (p.Tyr30040=)
c.87462C>T (p.Tyr29154=)
c.87381C>T (p.Tyr29127=)
c.69144C>T (p.Tyr23048=)
c.58998C>T (p.Tyr19666=)
2g.178543895G>CCA349450949TTN,TTN-AS1c.88545C>G (p.Tyr29515Ter)
c.69630C>G (p.Tyr23210Ter)
c.69429C>G (p.Tyr23143Ter)
c.69054C>G (p.Tyr23018Ter)
c.96249C>G (p.Tyr32083Ter)
c.91326C>G (p.Tyr30442Ter)
n.446+20259G>C
n.2043+1534G>C
c.95346C>G (p.Tyr31782Ter)
c.69240C>G (p.Tyr23080Ter)
c.69099C>G (p.Tyr23033Ter)
c.95142C>G (p.Tyr31714Ter)
c.90540C>G (p.Tyr30180Ter)
c.90537C>G (p.Tyr30179Ter)
c.87579C>G (p.Tyr29193Ter)
c.69195C>G (p.Tyr23065Ter)
c.90690C>G (p.Tyr30230Ter)
c.90687C>G (p.Tyr30229Ter)
c.90120C>G (p.Tyr30040Ter)
c.87462C>G (p.Tyr29154Ter)
c.87381C>G (p.Tyr29127Ter)
c.69144C>G (p.Tyr23048Ter)
c.58998C>G (p.Tyr19666Ter)
2g.178543895G>TCA349450950TTN,TTN-AS1c.88545C>A (p.Tyr29515Ter)
c.69630C>A (p.Tyr23210Ter)
c.69429C>A (p.Tyr23143Ter)
c.69054C>A (p.Tyr23018Ter)
c.96249C>A (p.Tyr32083Ter)
c.91326C>A (p.Tyr30442Ter)
n.446+20259G>T
n.2043+1534G>T
c.95346C>A (p.Tyr31782Ter)
c.69240C>A (p.Tyr23080Ter)
c.69099C>A (p.Tyr23033Ter)
c.95142C>A (p.Tyr31714Ter)
c.90540C>A (p.Tyr30180Ter)
c.90537C>A (p.Tyr30179Ter)
c.87579C>A (p.Tyr29193Ter)
c.69195C>A (p.Tyr23065Ter)
c.90690C>A (p.Tyr30230Ter)
c.90687C>A (p.Tyr30229Ter)
c.90120C>A (p.Tyr30040Ter)
c.87462C>A (p.Tyr29154Ter)
c.87381C>A (p.Tyr29127Ter)
c.69144C>A (p.Tyr23048Ter)
c.58998C>A (p.Tyr19666Ter)
2g.178543896T>ACA349450951TTN,TTN-AS1c.88544A>T (p.Tyr29515Phe)
c.69629A>T (p.Tyr23210Phe)
c.69428A>T (p.Tyr23143Phe)
c.69053A>T (p.Tyr23018Phe)
c.96248A>T (p.Tyr32083Phe)
c.91325A>T (p.Tyr30442Phe)
n.446+20260T>A
n.2043+1535T>A
c.95345A>T (p.Tyr31782Phe)
c.69239A>T (p.Tyr23080Phe)
c.69098A>T (p.Tyr23033Phe)
c.95141A>T (p.Tyr31714Phe)
c.90539A>T (p.Tyr30180Phe)
c.90536A>T (p.Tyr30179Phe)
c.87578A>T (p.Tyr29193Phe)
c.69194A>T (p.Tyr23065Phe)
c.90689A>T (p.Tyr30230Phe)
c.90686A>T (p.Tyr30229Phe)
c.90119A>T (p.Tyr30040Phe)
c.87461A>T (p.Tyr29154Phe)
c.87380A>T (p.Tyr29127Phe)
c.69143A>T (p.Tyr23048Phe)
c.58997A>T (p.Tyr19666Phe)
2g.178543896T>CCA349450952TTN,TTN-AS1c.88544A>G (p.Tyr29515Cys)
c.69629A>G (p.Tyr23210Cys)
c.69428A>G (p.Tyr23143Cys)
c.69053A>G (p.Tyr23018Cys)
c.96248A>G (p.Tyr32083Cys)
c.91325A>G (p.Tyr30442Cys)
n.446+20260T>C
n.2043+1535T>C
c.95345A>G (p.Tyr31782Cys)
c.69239A>G (p.Tyr23080Cys)
c.69098A>G (p.Tyr23033Cys)
c.95141A>G (p.Tyr31714Cys)
c.90539A>G (p.Tyr30180Cys)
c.90536A>G (p.Tyr30179Cys)
c.87578A>G (p.Tyr29193Cys)
c.69194A>G (p.Tyr23065Cys)
c.90689A>G (p.Tyr30230Cys)
c.90686A>G (p.Tyr30229Cys)
c.90119A>G (p.Tyr30040Cys)
c.87461A>G (p.Tyr29154Cys)
c.87380A>G (p.Tyr29127Cys)
c.69143A>G (p.Tyr23048Cys)
c.58997A>G (p.Tyr19666Cys)
2g.178543896T>GCA349450953TTN,TTN-AS1c.88544A>C (p.Tyr29515Ser)
c.69629A>C (p.Tyr23210Ser)
c.69428A>C (p.Tyr23143Ser)
c.69053A>C (p.Tyr23018Ser)
c.96248A>C (p.Tyr32083Ser)
c.91325A>C (p.Tyr30442Ser)
n.446+20260T>G
n.2043+1535T>G
c.95345A>C (p.Tyr31782Ser)
c.69239A>C (p.Tyr23080Ser)
c.69098A>C (p.Tyr23033Ser)
c.95141A>C (p.Tyr31714Ser)
c.90539A>C (p.Tyr30180Ser)
c.90536A>C (p.Tyr30179Ser)
c.87578A>C (p.Tyr29193Ser)
c.69194A>C (p.Tyr23065Ser)
c.90689A>C (p.Tyr30230Ser)
c.90686A>C (p.Tyr30229Ser)
c.90119A>C (p.Tyr30040Ser)
c.87461A>C (p.Tyr29154Ser)
c.87380A>C (p.Tyr29127Ser)
c.69143A>C (p.Tyr23048Ser)
c.58997A>C (p.Tyr19666Ser)
2g.178543897A=CA1310521157TTN,TTN-AS1c.88543T= (p.Tyr29515=)
c.69628T= (p.Tyr23210=)
c.69427T= (p.Tyr23143=)
c.69052T= (p.Tyr23018=)
c.96247T= (p.Tyr32083=)
c.91324T= (p.Tyr30442=)
n.446+20261A=
n.2043+1536A=
c.95344T= (p.Tyr31782=)
c.69238T= (p.Tyr23080=)
c.69097T= (p.Tyr23033=)
c.95140T= (p.Tyr31714=)
c.90538T= (p.Tyr30180=)
c.90535T= (p.Tyr30179=)
c.87577T= (p.Tyr29193=)
c.69193T= (p.Tyr23065=)
c.90688T= (p.Tyr30230=)
c.90685T= (p.Tyr30229=)
c.90118T= (p.Tyr30040=)
c.87460T= (p.Tyr29154=)
c.87379T= (p.Tyr29127=)
c.69142T= (p.Tyr23048=)
c.58996T= (p.Tyr19666=)
2g.178543897A>CCA349450956TTN,TTN-AS1c.88543T>G (p.Tyr29515Asp)
c.69628T>G (p.Tyr23210Asp)
c.69427T>G (p.Tyr23143Asp)
c.69052T>G (p.Tyr23018Asp)
c.96247T>G (p.Tyr32083Asp)
c.91324T>G (p.Tyr30442Asp)
n.446+20261A>C
n.2043+1536A>C
c.95344T>G (p.Tyr31782Asp)
c.69238T>G (p.Tyr23080Asp)
c.69097T>G (p.Tyr23033Asp)
c.95140T>G (p.Tyr31714Asp)
c.90538T>G (p.Tyr30180Asp)
c.90535T>G (p.Tyr30179Asp)
c.87577T>G (p.Tyr29193Asp)
c.69193T>G (p.Tyr23065Asp)
c.90688T>G (p.Tyr30230Asp)
c.90685T>G (p.Tyr30229Asp)
c.90118T>G (p.Tyr30040Asp)
c.87460T>G (p.Tyr29154Asp)
c.87379T>G (p.Tyr29127Asp)
c.69142T>G (p.Tyr23048Asp)
c.58996T>G (p.Tyr19666Asp)
2g.178543897A>GCA349450961TTN,TTN-AS1c.88543T>C (p.Tyr29515His)
c.69628T>C (p.Tyr23210His)
c.69427T>C (p.Tyr23143His)
c.69052T>C (p.Tyr23018His)
c.96247T>C (p.Tyr32083His)
c.91324T>C (p.Tyr30442His)
n.446+20261A>G
n.2043+1536A>G
c.95344T>C (p.Tyr31782His)
c.69238T>C (p.Tyr23080His)
c.69097T>C (p.Tyr23033His)
c.95140T>C (p.Tyr31714His)
c.90538T>C (p.Tyr30180His)
c.90535T>C (p.Tyr30179His)
c.87577T>C (p.Tyr29193His)
c.69193T>C (p.Tyr23065His)
c.90688T>C (p.Tyr30230His)
c.90685T>C (p.Tyr30229His)
c.90118T>C (p.Tyr30040His)
c.87460T>C (p.Tyr29154His)
c.87379T>C (p.Tyr29127His)
c.69142T>C (p.Tyr23048His)
c.58996T>C (p.Tyr19666His)
 dbSNP gnomAD v3 gnomAD v4
2g.178543897A>TCA349450966TTN,TTN-AS1c.88543T>A (p.Tyr29515Asn)
c.69628T>A (p.Tyr23210Asn)
c.69427T>A (p.Tyr23143Asn)
c.69052T>A (p.Tyr23018Asn)
c.96247T>A (p.Tyr32083Asn)
c.91324T>A (p.Tyr30442Asn)
n.446+20261A>T
n.2043+1536A>T
c.95344T>A (p.Tyr31782Asn)
c.69238T>A (p.Tyr23080Asn)
c.69097T>A (p.Tyr23033Asn)
c.95140T>A (p.Tyr31714Asn)
c.90538T>A (p.Tyr30180Asn)
c.90535T>A (p.Tyr30179Asn)
c.87577T>A (p.Tyr29193Asn)
c.69193T>A (p.Tyr23065Asn)
c.90688T>A (p.Tyr30230Asn)
c.90685T>A (p.Tyr30229Asn)
c.90118T>A (p.Tyr30040Asn)
c.87460T>A (p.Tyr29154Asn)
c.87379T>A (p.Tyr29127Asn)
c.69142T>A (p.Tyr23048Asn)
c.58996T>A (p.Tyr19666Asn)
2g.178543898T>ACA349450969TTN,TTN-AS1c.88542A>T (p.Lys29514Asn)
c.69627A>T (p.Lys23209Asn)
c.69426A>T (p.Lys23142Asn)
c.69051A>T (p.Lys23017Asn)
c.96246A>T (p.Lys32082Asn)
c.91323A>T (p.Lys30441Asn)
n.446+20262T>A
n.2043+1537T>A
c.95343A>T (p.Lys31781Asn)
c.69237A>T (p.Lys23079Asn)
c.69096A>T (p.Lys23032Asn)
c.95139A>T (p.Lys31713Asn)
c.90537A>T (p.Lys30179Asn)
c.90534A>T (p.Lys30178Asn)
c.87576A>T (p.Lys29192Asn)
c.69192A>T (p.Lys23064Asn)
c.90687A>T (p.Lys30229Asn)
c.90684A>T (p.Lys30228Asn)
c.90117A>T (p.Lys30039Asn)
c.87459A>T (p.Lys29153Asn)
c.87378A>T (p.Lys29126Asn)
c.69141A>T (p.Lys23047Asn)
c.58995A>T (p.Lys19665Asn)
2g.178543898T>CCA430241591TTN,TTN-AS1c.88542A>G (p.Lys29514=)
c.69627A>G (p.Lys23209=)
c.69426A>G (p.Lys23142=)
c.69051A>G (p.Lys23017=)
c.96246A>G (p.Lys32082=)
c.91323A>G (p.Lys30441=)
n.446+20262T>C
n.2043+1537T>C
c.95343A>G (p.Lys31781=)
c.69237A>G (p.Lys23079=)
c.69096A>G (p.Lys23032=)
c.95139A>G (p.Lys31713=)
c.90537A>G (p.Lys30179=)
c.90534A>G (p.Lys30178=)
c.87576A>G (p.Lys29192=)
c.69192A>G (p.Lys23064=)
c.90687A>G (p.Lys30229=)
c.90684A>G (p.Lys30228=)
c.90117A>G (p.Lys30039=)
c.87459A>G (p.Lys29153=)
c.87378A>G (p.Lys29126=)
c.69141A>G (p.Lys23047=)
c.58995A>G (p.Lys19665=)
 dbSNP gnomAD v2 gnomAD v4
2g.178543898T>GCA349450971TTN,TTN-AS1c.88542A>C (p.Lys29514Asn)
c.69627A>C (p.Lys23209Asn)
c.69426A>C (p.Lys23142Asn)
c.69051A>C (p.Lys23017Asn)
c.96246A>C (p.Lys32082Asn)
c.91323A>C (p.Lys30441Asn)
n.446+20262T>G
n.2043+1537T>G
c.95343A>C (p.Lys31781Asn)
c.69237A>C (p.Lys23079Asn)
c.69096A>C (p.Lys23032Asn)
c.95139A>C (p.Lys31713Asn)
c.90537A>C (p.Lys30179Asn)
c.90534A>C (p.Lys30178Asn)
c.87576A>C (p.Lys29192Asn)
c.69192A>C (p.Lys23064Asn)
c.90687A>C (p.Lys30229Asn)
c.90684A>C (p.Lys30228Asn)
c.90117A>C (p.Lys30039Asn)
c.87459A>C (p.Lys29153Asn)
c.87378A>C (p.Lys29126Asn)
c.69141A>C (p.Lys23047Asn)
c.58995A>C (p.Lys19665Asn)
2g.178543898T=CA1310521159TTN,TTN-AS1c.88542A= (p.Lys29514=)
c.69627A= (p.Lys23209=)
c.69426A= (p.Lys23142=)
c.69051A= (p.Lys23017=)
c.96246A= (p.Lys32082=)
c.91323A= (p.Lys30441=)
n.446+20262T=
n.2043+1537T=
c.95343A= (p.Lys31781=)
c.69237A= (p.Lys23079=)
c.69096A= (p.Lys23032=)
c.95139A= (p.Lys31713=)
c.90537A= (p.Lys30179=)
c.90534A= (p.Lys30178=)
c.87576A= (p.Lys29192=)
c.69192A= (p.Lys23064=)
c.90687A= (p.Lys30229=)
c.90684A= (p.Lys30228=)
c.90117A= (p.Lys30039=)
c.87459A= (p.Lys29153=)
c.87378A= (p.Lys29126=)
c.69141A= (p.Lys23047=)
c.58995A= (p.Lys19665=)
2g.178543899_178543901dupCA2536411824TTN,TTN-AS1c.88540_88542dup (p.Lys29514_Tyr29515insLys)
c.69625_69627dup (p.Lys23209_Tyr23210insLys)
c.69424_69426dup (p.Lys23142_Tyr23143insLys)
c.69049_69051dup (p.Lys23017_Tyr23018insLys)
c.96244_96246dup (p.Lys32082_Tyr32083insLys)
c.91321_91323dup (p.Lys30441_Tyr30442insLys)
n.446+20263_446+20265dup
n.2043+1538_2043+1540dup
c.95341_95343dup (p.Lys31781_Tyr31782insLys)
c.69235_69237dup (p.Lys23079_Tyr23080insLys)
c.69094_69096dup (p.Lys23032_Tyr23033insLys)
c.95137_95139dup (p.Lys31713_Tyr31714insLys)
c.90535_90537dup (p.Lys30179_Tyr30180insLys)
c.90532_90534dup (p.Lys30178_Tyr30179insLys)
c.87574_87576dup (p.Lys29192_Tyr29193insLys)
c.69190_69192dup (p.Lys23064_Tyr23065insLys)
c.90685_90687dup (p.Lys30229_Tyr30230insLys)
c.90682_90684dup (p.Lys30228_Tyr30229insLys)
c.90115_90117dup (p.Lys30039_Tyr30040insLys)
c.87457_87459dup (p.Lys29153_Tyr29154insLys)
c.87376_87378dup (p.Lys29126_Tyr29127insLys)
c.69139_69141dup (p.Lys23047_Tyr23048insLys)
c.58993_58995dup (p.Lys19665_Tyr19666insLys)
2g.178543901delCA645528608TTN,TTN-AS1c.88542del (p.Lys29514AsnfsTer?)
c.69627del (p.Lys23209AsnfsTer?)
c.69426del (p.Lys23142AsnfsTer?)
c.69051del (p.Lys23017AsnfsTer?)
c.96246del (p.Lys32082AsnfsTer?)
c.91323del (p.Lys30441AsnfsTer?)
n.446+20265del
n.2043+1540del
c.95343del (p.Lys31781AsnfsTer?)
c.69237del (p.Lys23079AsnfsTer?)
c.69096del (p.Lys23032AsnfsTer?)
c.95139del (p.Lys31713AsnfsTer?)
c.90537del (p.Lys30179AsnfsTer?)
c.90534del (p.Lys30178AsnfsTer?)
c.87576del (p.Lys29192AsnfsTer?)
c.69192del (p.Lys23064AsnfsTer?)
c.90687del (p.Lys30229AsnfsTer?)
c.90684del (p.Lys30228AsnfsTer?)
c.90117del (p.Lys30039AsnfsTer?)
c.87459del (p.Lys29153AsnfsTer?)
c.87378del (p.Lys29126AsnfsTer?)
c.69141del (p.Lys23047AsnfsTer?)
c.58995del (p.Lys19665AsnfsTer?)
 COSMIC COSMIC COSMIC COSMIC
2g.178543899T>ACA349450979TTN,TTN-AS1c.88541A>T (p.Lys29514Ile)
c.69626A>T (p.Lys23209Ile)
c.69425A>T (p.Lys23142Ile)
c.69050A>T (p.Lys23017Ile)
c.96245A>T (p.Lys32082Ile)
c.91322A>T (p.Lys30441Ile)
n.446+20263T>A
n.2043+1538T>A
c.95342A>T (p.Lys31781Ile)
c.69236A>T (p.Lys23079Ile)
c.69095A>T (p.Lys23032Ile)
c.95138A>T (p.Lys31713Ile)
c.90536A>T (p.Lys30179Ile)
c.90533A>T (p.Lys30178Ile)
c.87575A>T (p.Lys29192Ile)
c.69191A>T (p.Lys23064Ile)
c.90686A>T (p.Lys30229Ile)
c.90683A>T (p.Lys30228Ile)
c.90116A>T (p.Lys30039Ile)
c.87458A>T (p.Lys29153Ile)
c.87377A>T (p.Lys29126Ile)
c.69140A>T (p.Lys23047Ile)
c.58994A>T (p.Lys19665Ile)
2g.178543899T>CCA349450982TTN,TTN-AS1c.88541A>G (p.Lys29514Arg)
c.69626A>G (p.Lys23209Arg)
c.69425A>G (p.Lys23142Arg)
c.69050A>G (p.Lys23017Arg)
c.96245A>G (p.Lys32082Arg)
c.91322A>G (p.Lys30441Arg)
n.446+20263T>C
n.2043+1538T>C
c.95342A>G (p.Lys31781Arg)
c.69236A>G (p.Lys23079Arg)
c.69095A>G (p.Lys23032Arg)
c.95138A>G (p.Lys31713Arg)
c.90536A>G (p.Lys30179Arg)
c.90533A>G (p.Lys30178Arg)
c.87575A>G (p.Lys29192Arg)
c.69191A>G (p.Lys23064Arg)
c.90686A>G (p.Lys30229Arg)
c.90683A>G (p.Lys30228Arg)
c.90116A>G (p.Lys30039Arg)
c.87458A>G (p.Lys29153Arg)
c.87377A>G (p.Lys29126Arg)
c.69140A>G (p.Lys23047Arg)
c.58994A>G (p.Lys19665Arg)
 dbSNP gnomAD v4
2g.178543899T>GCA349450990TTN,TTN-AS1c.88541A>C (p.Lys29514Thr)
c.69626A>C (p.Lys23209Thr)
c.69425A>C (p.Lys23142Thr)
c.69050A>C (p.Lys23017Thr)
c.96245A>C (p.Lys32082Thr)
c.91322A>C (p.Lys30441Thr)
n.446+20263T>G
n.2043+1538T>G
c.95342A>C (p.Lys31781Thr)
c.69236A>C (p.Lys23079Thr)
c.69095A>C (p.Lys23032Thr)
c.95138A>C (p.Lys31713Thr)
c.90536A>C (p.Lys30179Thr)
c.90533A>C (p.Lys30178Thr)
c.87575A>C (p.Lys29192Thr)
c.69191A>C (p.Lys23064Thr)
c.90686A>C (p.Lys30229Thr)
c.90683A>C (p.Lys30228Thr)
c.90116A>C (p.Lys30039Thr)
c.87458A>C (p.Lys29153Thr)
c.87377A>C (p.Lys29126Thr)
c.69140A>C (p.Lys23047Thr)
c.58994A>C (p.Lys19665Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178543899T=CA1310521161TTN,TTN-AS1c.88541A= (p.Lys29514=)
c.69626A= (p.Lys23209=)
c.69425A= (p.Lys23142=)
c.69050A= (p.Lys23017=)
c.96245A= (p.Lys32082=)
c.91322A= (p.Lys30441=)
n.446+20263T=
n.2043+1538T=
c.95342A= (p.Lys31781=)
c.69236A= (p.Lys23079=)
c.69095A= (p.Lys23032=)
c.95138A= (p.Lys31713=)
c.90536A= (p.Lys30179=)
c.90533A= (p.Lys30178=)
c.87575A= (p.Lys29192=)
c.69191A= (p.Lys23064=)
c.90686A= (p.Lys30229=)
c.90683A= (p.Lys30228=)
c.90116A= (p.Lys30039=)
c.87458A= (p.Lys29153=)
c.87377A= (p.Lys29126=)
c.69140A= (p.Lys23047=)
c.58994A= (p.Lys19665=)
2g.178543900T>ACA349450998TTN,TTN-AS1c.88540A>T (p.Lys29514Ter)
c.69625A>T (p.Lys23209Ter)
c.69424A>T (p.Lys23142Ter)
c.69049A>T (p.Lys23017Ter)
c.96244A>T (p.Lys32082Ter)
c.91321A>T (p.Lys30441Ter)
n.446+20264T>A
n.2043+1539T>A
c.95341A>T (p.Lys31781Ter)
c.69235A>T (p.Lys23079Ter)
c.69094A>T (p.Lys23032Ter)
c.95137A>T (p.Lys31713Ter)
c.90535A>T (p.Lys30179Ter)
c.90532A>T (p.Lys30178Ter)
c.87574A>T (p.Lys29192Ter)
c.69190A>T (p.Lys23064Ter)
c.90685A>T (p.Lys30229Ter)
c.90682A>T (p.Lys30228Ter)
c.90115A>T (p.Lys30039Ter)
c.87457A>T (p.Lys29153Ter)
c.87376A>T (p.Lys29126Ter)
c.69139A>T (p.Lys23047Ter)
c.58993A>T (p.Lys19665Ter)
2g.178543900T>CCA349451007TTN,TTN-AS1c.88540A>G (p.Lys29514Glu)
c.69625A>G (p.Lys23209Glu)
c.69424A>G (p.Lys23142Glu)
c.69049A>G (p.Lys23017Glu)
c.96244A>G (p.Lys32082Glu)
c.91321A>G (p.Lys30441Glu)
n.446+20264T>C
n.2043+1539T>C
c.95341A>G (p.Lys31781Glu)
c.69235A>G (p.Lys23079Glu)
c.69094A>G (p.Lys23032Glu)
c.95137A>G (p.Lys31713Glu)
c.90535A>G (p.Lys30179Glu)
c.90532A>G (p.Lys30178Glu)
c.87574A>G (p.Lys29192Glu)
c.69190A>G (p.Lys23064Glu)
c.90685A>G (p.Lys30229Glu)
c.90682A>G (p.Lys30228Glu)
c.90115A>G (p.Lys30039Glu)
c.87457A>G (p.Lys29153Glu)
c.87376A>G (p.Lys29126Glu)
c.69139A>G (p.Lys23047Glu)
c.58993A>G (p.Lys19665Glu)
2g.178543900T>GCA349451000TTN,TTN-AS1c.88540A>C (p.Lys29514Gln)
c.69625A>C (p.Lys23209Gln)
c.69424A>C (p.Lys23142Gln)
c.69049A>C (p.Lys23017Gln)
c.96244A>C (p.Lys32082Gln)
c.91321A>C (p.Lys30441Gln)
n.446+20264T>G
n.2043+1539T>G
c.95341A>C (p.Lys31781Gln)
c.69235A>C (p.Lys23079Gln)
c.69094A>C (p.Lys23032Gln)
c.95137A>C (p.Lys31713Gln)
c.90535A>C (p.Lys30179Gln)
c.90532A>C (p.Lys30178Gln)
c.87574A>C (p.Lys29192Gln)
c.69190A>C (p.Lys23064Gln)
c.90685A>C (p.Lys30229Gln)
c.90682A>C (p.Lys30228Gln)
c.90115A>C (p.Lys30039Gln)
c.87457A>C (p.Lys29153Gln)
c.87376A>C (p.Lys29126Gln)
c.69139A>C (p.Lys23047Gln)
c.58993A>C (p.Lys19665Gln)
2g.178543901T>ACA430241596TTN,TTN-AS1c.88539A>T (p.Gly29513=)
c.69624A>T (p.Gly23208=)
c.69423A>T (p.Gly23141=)
c.69048A>T (p.Gly23016=)
c.96243A>T (p.Gly32081=)
c.91320A>T (p.Gly30440=)
n.446+20265T>A
n.2043+1540T>A
c.95340A>T (p.Gly31780=)
c.69234A>T (p.Gly23078=)
c.69093A>T (p.Gly23031=)
c.95136A>T (p.Gly31712=)
c.90534A>T (p.Gly30178=)
c.90531A>T (p.Gly30177=)
c.87573A>T (p.Gly29191=)
c.69189A>T (p.Gly23063=)
c.90684A>T (p.Gly30228=)
c.90681A>T (p.Gly30227=)
c.90114A>T (p.Gly30038=)
c.87456A>T (p.Gly29152=)
c.87375A>T (p.Gly29125=)
c.69138A>T (p.Gly23046=)
c.58992A>T (p.Gly19664=)
2g.178543901T>CCA430241597TTN,TTN-AS1c.88539A>G (p.Gly29513=)
c.69624A>G (p.Gly23208=)
c.69423A>G (p.Gly23141=)
c.69048A>G (p.Gly23016=)
c.96243A>G (p.Gly32081=)
c.91320A>G (p.Gly30440=)
n.446+20265T>C
n.2043+1540T>C
c.95340A>G (p.Gly31780=)
c.69234A>G (p.Gly23078=)
c.69093A>G (p.Gly23031=)
c.95136A>G (p.Gly31712=)
c.90534A>G (p.Gly30178=)
c.90531A>G (p.Gly30177=)
c.87573A>G (p.Gly29191=)
c.69189A>G (p.Gly23063=)
c.90684A>G (p.Gly30228=)
c.90681A>G (p.Gly30227=)
c.90114A>G (p.Gly30038=)
c.87456A>G (p.Gly29152=)
c.87375A>G (p.Gly29125=)
c.69138A>G (p.Gly23046=)
c.58992A>G (p.Gly19664=)
2g.178543901T>GCA430241599TTN,TTN-AS1c.88539A>C (p.Gly29513=)
c.69624A>C (p.Gly23208=)
c.69423A>C (p.Gly23141=)
c.69048A>C (p.Gly23016=)
c.96243A>C (p.Gly32081=)
c.91320A>C (p.Gly30440=)
n.446+20265T>G
n.2043+1540T>G
c.95340A>C (p.Gly31780=)
c.69234A>C (p.Gly23078=)
c.69093A>C (p.Gly23031=)
c.95136A>C (p.Gly31712=)
c.90534A>C (p.Gly30178=)
c.90531A>C (p.Gly30177=)
c.87573A>C (p.Gly29191=)
c.69189A>C (p.Gly23063=)
c.90684A>C (p.Gly30228=)
c.90681A>C (p.Gly30227=)
c.90114A>C (p.Gly30038=)
c.87456A>C (p.Gly29152=)
c.87375A>C (p.Gly29125=)
c.69138A>C (p.Gly23046=)
c.58992A>C (p.Gly19664=)
2g.178543902C>ACA349451008TTN,TTN-AS1c.88538G>T (p.Gly29513Val)
c.69623G>T (p.Gly23208Val)
c.69422G>T (p.Gly23141Val)
c.69047G>T (p.Gly23016Val)
c.96242G>T (p.Gly32081Val)
c.91319G>T (p.Gly30440Val)
n.446+20266C>A
n.2043+1541C>A
c.95339G>T (p.Gly31780Val)
c.69233G>T (p.Gly23078Val)
c.69092G>T (p.Gly23031Val)
c.95135G>T (p.Gly31712Val)
c.90533G>T (p.Gly30178Val)
c.90530G>T (p.Gly30177Val)
c.87572G>T (p.Gly29191Val)
c.69188G>T (p.Gly23063Val)
c.90683G>T (p.Gly30228Val)
c.90680G>T (p.Gly30227Val)
c.90113G>T (p.Gly30038Val)
c.87455G>T (p.Gly29152Val)
c.87374G>T (p.Gly29125Val)
c.69137G>T (p.Gly23046Val)
c.58991G>T (p.Gly19664Val)
2g.178543902C>GCA349451009TTN,TTN-AS1c.88538G>C (p.Gly29513Ala)
c.69623G>C (p.Gly23208Ala)
c.69422G>C (p.Gly23141Ala)
c.69047G>C (p.Gly23016Ala)
c.96242G>C (p.Gly32081Ala)
c.91319G>C (p.Gly30440Ala)
n.446+20266C>G
n.2043+1541C>G
c.95339G>C (p.Gly31780Ala)
c.69233G>C (p.Gly23078Ala)
c.69092G>C (p.Gly23031Ala)
c.95135G>C (p.Gly31712Ala)
c.90533G>C (p.Gly30178Ala)
c.90530G>C (p.Gly30177Ala)
c.87572G>C (p.Gly29191Ala)
c.69188G>C (p.Gly23063Ala)
c.90683G>C (p.Gly30228Ala)
c.90680G>C (p.Gly30227Ala)
c.90113G>C (p.Gly30038Ala)
c.87455G>C (p.Gly29152Ala)
c.87374G>C (p.Gly29125Ala)
c.69137G>C (p.Gly23046Ala)
c.58991G>C (p.Gly19664Ala)
2g.178543902C>TCA349451010TTN,TTN-AS1c.88538G>A (p.Gly29513Glu)
c.69623G>A (p.Gly23208Glu)
c.69422G>A (p.Gly23141Glu)
c.69047G>A (p.Gly23016Glu)
c.96242G>A (p.Gly32081Glu)
c.91319G>A (p.Gly30440Glu)
n.446+20266C>T
n.2043+1541C>T
c.95339G>A (p.Gly31780Glu)
c.69233G>A (p.Gly23078Glu)
c.69092G>A (p.Gly23031Glu)
c.95135G>A (p.Gly31712Glu)
c.90533G>A (p.Gly30178Glu)
c.90530G>A (p.Gly30177Glu)
c.87572G>A (p.Gly29191Glu)
c.69188G>A (p.Gly23063Glu)
c.90683G>A (p.Gly30228Glu)
c.90680G>A (p.Gly30227Glu)
c.90113G>A (p.Gly30038Glu)
c.87455G>A (p.Gly29152Glu)
c.87374G>A (p.Gly29125Glu)
c.69137G>A (p.Gly23046Glu)
c.58991G>A (p.Gly19664Glu)
2g.178543903C>ACA349451012TTN,TTN-AS1c.88537G>T (p.Gly29513Ter)
c.69622G>T (p.Gly23208Ter)
c.69421G>T (p.Gly23141Ter)
c.69046G>T (p.Gly23016Ter)
c.96241G>T (p.Gly32081Ter)
c.91318G>T (p.Gly30440Ter)
n.446+20267C>A
n.2043+1542C>A
c.95338G>T (p.Gly31780Ter)
c.69232G>T (p.Gly23078Ter)
c.69091G>T (p.Gly23031Ter)
c.95134G>T (p.Gly31712Ter)
c.90532G>T (p.Gly30178Ter)
c.90529G>T (p.Gly30177Ter)
c.87571G>T (p.Gly29191Ter)
c.69187G>T (p.Gly23063Ter)
c.90682G>T (p.Gly30228Ter)
c.90679G>T (p.Gly30227Ter)
c.90112G>T (p.Gly30038Ter)
c.87454G>T (p.Gly29152Ter)
c.87373G>T (p.Gly29125Ter)
c.69136G>T (p.Gly23046Ter)
c.58990G>T (p.Gly19664Ter)
2g.178543903C>GCA349451015TTN,TTN-AS1c.88537G>C (p.Gly29513Arg)
c.69622G>C (p.Gly23208Arg)
c.69421G>C (p.Gly23141Arg)
c.69046G>C (p.Gly23016Arg)
c.96241G>C (p.Gly32081Arg)
c.91318G>C (p.Gly30440Arg)
n.446+20267C>G
n.2043+1542C>G
c.95338G>C (p.Gly31780Arg)
c.69232G>C (p.Gly23078Arg)
c.69091G>C (p.Gly23031Arg)
c.95134G>C (p.Gly31712Arg)
c.90532G>C (p.Gly30178Arg)
c.90529G>C (p.Gly30177Arg)
c.87571G>C (p.Gly29191Arg)
c.69187G>C (p.Gly23063Arg)
c.90682G>C (p.Gly30228Arg)
c.90679G>C (p.Gly30227Arg)
c.90112G>C (p.Gly30038Arg)
c.87454G>C (p.Gly29152Arg)
c.87373G>C (p.Gly29125Arg)
c.69136G>C (p.Gly23046Arg)
c.58990G>C (p.Gly19664Arg)
2g.178543903C>TCA349451021TTN,TTN-AS1c.88537G>A (p.Gly29513Arg)
c.69622G>A (p.Gly23208Arg)
c.69421G>A (p.Gly23141Arg)
c.69046G>A (p.Gly23016Arg)
c.96241G>A (p.Gly32081Arg)
c.91318G>A (p.Gly30440Arg)
n.446+20267C>T
n.2043+1542C>T
c.95338G>A (p.Gly31780Arg)
c.69232G>A (p.Gly23078Arg)
c.69091G>A (p.Gly23031Arg)
c.95134G>A (p.Gly31712Arg)
c.90532G>A (p.Gly30178Arg)
c.90529G>A (p.Gly30177Arg)
c.87571G>A (p.Gly29191Arg)
c.69187G>A (p.Gly23063Arg)
c.90682G>A (p.Gly30228Arg)
c.90679G>A (p.Gly30227Arg)
c.90112G>A (p.Gly30038Arg)
c.87454G>A (p.Gly29152Arg)
c.87373G>A (p.Gly29125Arg)
c.69136G>A (p.Gly23046Arg)
c.58990G>A (p.Gly19664Arg)
2g.178543904A=CA1310521162TTN,TTN-AS1c.88536T= (p.Ala29512=)
c.69621T= (p.Ala23207=)
c.69420T= (p.Ala23140=)
c.69045T= (p.Ala23015=)
c.96240T= (p.Ala32080=)
c.91317T= (p.Ala30439=)
n.446+20268A=
n.2043+1543A=
c.95337T= (p.Ala31779=)
c.69231T= (p.Ala23077=)
c.69090T= (p.Ala23030=)
c.95133T= (p.Ala31711=)
c.90531T= (p.Ala30177=)
c.90528T= (p.Ala30176=)
c.87570T= (p.Ala29190=)
c.69186T= (p.Ala23062=)
c.90681T= (p.Ala30227=)
c.90678T= (p.Ala30226=)
c.90111T= (p.Ala30037=)
c.87453T= (p.Ala29151=)
c.87372T= (p.Ala29124=)
c.69135T= (p.Ala23045=)
c.58989T= (p.Ala19663=)
2g.178543904A>CCA430241608TTN,TTN-AS1c.88536T>G (p.Ala29512=)
c.69621T>G (p.Ala23207=)
c.69420T>G (p.Ala23140=)
c.69045T>G (p.Ala23015=)
c.96240T>G (p.Ala32080=)
c.91317T>G (p.Ala30439=)
n.446+20268A>C
n.2043+1543A>C
c.95337T>G (p.Ala31779=)
c.69231T>G (p.Ala23077=)
c.69090T>G (p.Ala23030=)
c.95133T>G (p.Ala31711=)
c.90531T>G (p.Ala30177=)
c.90528T>G (p.Ala30176=)
c.87570T>G (p.Ala29190=)
c.69186T>G (p.Ala23062=)
c.90681T>G (p.Ala30227=)
c.90678T>G (p.Ala30226=)
c.90111T>G (p.Ala30037=)
c.87453T>G (p.Ala29151=)
c.87372T>G (p.Ala29124=)
c.69135T>G (p.Ala23045=)
c.58989T>G (p.Ala19663=)
2g.178543904A>GCA1986792TTN,TTN-AS1c.88536T>C (p.Ala29512=)
c.69621T>C (p.Ala23207=)
c.69420T>C (p.Ala23140=)
c.69045T>C (p.Ala23015=)
c.96240T>C (p.Ala32080=)
c.91317T>C (p.Ala30439=)
n.446+20268A>G
n.2043+1543A>G
c.95337T>C (p.Ala31779=)
c.69231T>C (p.Ala23077=)
c.69090T>C (p.Ala23030=)
c.95133T>C (p.Ala31711=)
c.90531T>C (p.Ala30177=)
c.90528T>C (p.Ala30176=)
c.87570T>C (p.Ala29190=)
c.69186T>C (p.Ala23062=)
c.90681T>C (p.Ala30227=)
c.90678T>C (p.Ala30226=)
c.90111T>C (p.Ala30037=)
c.87453T>C (p.Ala29151=)
c.87372T>C (p.Ala29124=)
c.69135T>C (p.Ala23045=)
c.58989T>C (p.Ala19663=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543904A>TCA430241610TTN,TTN-AS1c.88536T>A (p.Ala29512=)
c.69621T>A (p.Ala23207=)
c.69420T>A (p.Ala23140=)
c.69045T>A (p.Ala23015=)
c.96240T>A (p.Ala32080=)
c.91317T>A (p.Ala30439=)
n.446+20268A>T
n.2043+1543A>T
c.95337T>A (p.Ala31779=)
c.69231T>A (p.Ala23077=)
c.69090T>A (p.Ala23030=)
c.95133T>A (p.Ala31711=)
c.90531T>A (p.Ala30177=)
c.90528T>A (p.Ala30176=)
c.87570T>A (p.Ala29190=)
c.69186T>A (p.Ala23062=)
c.90681T>A (p.Ala30227=)
c.90678T>A (p.Ala30226=)
c.90111T>A (p.Ala30037=)
c.87453T>A (p.Ala29151=)
c.87372T>A (p.Ala29124=)
c.69135T>A (p.Ala23045=)
c.58989T>A (p.Ala19663=)
2g.178543905G>ACA349451024TTN,TTN-AS1c.88535C>T (p.Ala29512Val)
c.69620C>T (p.Ala23207Val)
c.69419C>T (p.Ala23140Val)
c.69044C>T (p.Ala23015Val)
c.96239C>T (p.Ala32080Val)
c.91316C>T (p.Ala30439Val)
n.446+20269G>A
n.2043+1544G>A
c.95336C>T (p.Ala31779Val)
c.69230C>T (p.Ala23077Val)
c.69089C>T (p.Ala23030Val)
c.95132C>T (p.Ala31711Val)
c.90530C>T (p.Ala30177Val)
c.90527C>T (p.Ala30176Val)
c.87569C>T (p.Ala29190Val)
c.69185C>T (p.Ala23062Val)
c.90680C>T (p.Ala30227Val)
c.90677C>T (p.Ala30226Val)
c.90110C>T (p.Ala30037Val)
c.87452C>T (p.Ala29151Val)
c.87371C>T (p.Ala29124Val)
c.69134C>T (p.Ala23045Val)
c.58988C>T (p.Ala19663Val)
 gnomAD v4
2g.178543905G>CCA349451025TTN,TTN-AS1c.88535C>G (p.Ala29512Gly)
c.69620C>G (p.Ala23207Gly)
c.69419C>G (p.Ala23140Gly)
c.69044C>G (p.Ala23015Gly)
c.96239C>G (p.Ala32080Gly)
c.91316C>G (p.Ala30439Gly)
n.446+20269G>C
n.2043+1544G>C
c.95336C>G (p.Ala31779Gly)
c.69230C>G (p.Ala23077Gly)
c.69089C>G (p.Ala23030Gly)
c.95132C>G (p.Ala31711Gly)
c.90530C>G (p.Ala30177Gly)
c.90527C>G (p.Ala30176Gly)
c.87569C>G (p.Ala29190Gly)
c.69185C>G (p.Ala23062Gly)
c.90680C>G (p.Ala30227Gly)
c.90677C>G (p.Ala30226Gly)
c.90110C>G (p.Ala30037Gly)
c.87452C>G (p.Ala29151Gly)
c.87371C>G (p.Ala29124Gly)
c.69134C>G (p.Ala23045Gly)
c.58988C>G (p.Ala19663Gly)
2g.178543905G>TCA349451026TTN,TTN-AS1c.88535C>A (p.Ala29512Asp)
c.69620C>A (p.Ala23207Asp)
c.69419C>A (p.Ala23140Asp)
c.69044C>A (p.Ala23015Asp)
c.96239C>A (p.Ala32080Asp)
c.91316C>A (p.Ala30439Asp)
n.446+20269G>T
n.2043+1544G>T
c.95336C>A (p.Ala31779Asp)
c.69230C>A (p.Ala23077Asp)
c.69089C>A (p.Ala23030Asp)
c.95132C>A (p.Ala31711Asp)
c.90530C>A (p.Ala30177Asp)
c.90527C>A (p.Ala30176Asp)
c.87569C>A (p.Ala29190Asp)
c.69185C>A (p.Ala23062Asp)
c.90680C>A (p.Ala30227Asp)
c.90677C>A (p.Ala30226Asp)
c.90110C>A (p.Ala30037Asp)
c.87452C>A (p.Ala29151Asp)
c.87371C>A (p.Ala29124Asp)
c.69134C>A (p.Ala23045Asp)
c.58988C>A (p.Ala19663Asp)
2g.178543906C>ACA349451027TTN,TTN-AS1c.88534G>T (p.Ala29512Ser)
c.69619G>T (p.Ala23207Ser)
c.69418G>T (p.Ala23140Ser)
c.69043G>T (p.Ala23015Ser)
c.96238G>T (p.Ala32080Ser)
c.91315G>T (p.Ala30439Ser)
n.446+20270C>A
n.2043+1545C>A
c.95335G>T (p.Ala31779Ser)
c.69229G>T (p.Ala23077Ser)
c.69088G>T (p.Ala23030Ser)
c.95131G>T (p.Ala31711Ser)
c.90529G>T (p.Ala30177Ser)
c.90526G>T (p.Ala30176Ser)
c.87568G>T (p.Ala29190Ser)
c.69184G>T (p.Ala23062Ser)
c.90679G>T (p.Ala30227Ser)
c.90676G>T (p.Ala30226Ser)
c.90109G>T (p.Ala30037Ser)
c.87451G>T (p.Ala29151Ser)
c.87370G>T (p.Ala29124Ser)
c.69133G>T (p.Ala23045Ser)
c.58987G>T (p.Ala19663Ser)
2g.178543906C>GCA349451029TTN,TTN-AS1c.88534G>C (p.Ala29512Pro)
c.69619G>C (p.Ala23207Pro)
c.69418G>C (p.Ala23140Pro)
c.69043G>C (p.Ala23015Pro)
c.96238G>C (p.Ala32080Pro)
c.91315G>C (p.Ala30439Pro)
n.446+20270C>G
n.2043+1545C>G
c.95335G>C (p.Ala31779Pro)
c.69229G>C (p.Ala23077Pro)
c.69088G>C (p.Ala23030Pro)
c.95131G>C (p.Ala31711Pro)
c.90529G>C (p.Ala30177Pro)
c.90526G>C (p.Ala30176Pro)
c.87568G>C (p.Ala29190Pro)
c.69184G>C (p.Ala23062Pro)
c.90679G>C (p.Ala30227Pro)
c.90676G>C (p.Ala30226Pro)
c.90109G>C (p.Ala30037Pro)
c.87451G>C (p.Ala29151Pro)
c.87370G>C (p.Ala29124Pro)
c.69133G>C (p.Ala23045Pro)
c.58987G>C (p.Ala19663Pro)
2g.178543906C>TCA349451039TTN,TTN-AS1c.88534G>A (p.Ala29512Thr)
c.69619G>A (p.Ala23207Thr)
c.69418G>A (p.Ala23140Thr)
c.69043G>A (p.Ala23015Thr)
c.96238G>A (p.Ala32080Thr)
c.91315G>A (p.Ala30439Thr)
n.446+20270C>T
n.2043+1545C>T
c.95335G>A (p.Ala31779Thr)
c.69229G>A (p.Ala23077Thr)
c.69088G>A (p.Ala23030Thr)
c.95131G>A (p.Ala31711Thr)
c.90529G>A (p.Ala30177Thr)
c.90526G>A (p.Ala30176Thr)
c.87568G>A (p.Ala29190Thr)
c.69184G>A (p.Ala23062Thr)
c.90679G>A (p.Ala30227Thr)
c.90676G>A (p.Ala30226Thr)
c.90109G>A (p.Ala30037Thr)
c.87451G>A (p.Ala29151Thr)
c.87370G>A (p.Ala29124Thr)
c.69133G>A (p.Ala23045Thr)
c.58987G>A (p.Ala19663Thr)
 gnomAD v4
2g.178543907A=CA1310521167TTN,TTN-AS1c.88533T= (p.Asp29511=)
c.69618T= (p.Asp23206=)
c.69417T= (p.Asp23139=)
c.69042T= (p.Asp23014=)
c.96237T= (p.Asp32079=)
c.91314T= (p.Asp30438=)
n.446+20271A=
n.2043+1546A=
c.95334T= (p.Asp31778=)
c.69228T= (p.Asp23076=)
c.69087T= (p.Asp23029=)
c.95130T= (p.Asp31710=)
c.90528T= (p.Asp30176=)
c.90525T= (p.Asp30175=)
c.87567T= (p.Asp29189=)
c.69183T= (p.Asp23061=)
c.90678T= (p.Asp30226=)
c.90675T= (p.Asp30225=)
c.90108T= (p.Asp30036=)
c.87450T= (p.Asp29150=)
c.87369T= (p.Asp29123=)
c.69132T= (p.Asp23044=)
c.58986T= (p.Asp19662=)
2g.178543907A>CCA349451045TTN,TTN-AS1c.88533T>G (p.Asp29511Glu)
c.69618T>G (p.Asp23206Glu)
c.69417T>G (p.Asp23139Glu)
c.69042T>G (p.Asp23014Glu)
c.96237T>G (p.Asp32079Glu)
c.91314T>G (p.Asp30438Glu)
n.446+20271A>C
n.2043+1546A>C
c.95334T>G (p.Asp31778Glu)
c.69228T>G (p.Asp23076Glu)
c.69087T>G (p.Asp23029Glu)
c.95130T>G (p.Asp31710Glu)
c.90528T>G (p.Asp30176Glu)
c.90525T>G (p.Asp30175Glu)
c.87567T>G (p.Asp29189Glu)
c.69183T>G (p.Asp23061Glu)
c.90678T>G (p.Asp30226Glu)
c.90675T>G (p.Asp30225Glu)
c.90108T>G (p.Asp30036Glu)
c.87450T>G (p.Asp29150Glu)
c.87369T>G (p.Asp29123Glu)
c.69132T>G (p.Asp23044Glu)
c.58986T>G (p.Asp19662Glu)
2g.178543907A>GCA1986793TTN,TTN-AS1c.88533T>C (p.Asp29511=)
c.69618T>C (p.Asp23206=)
c.69417T>C (p.Asp23139=)
c.69042T>C (p.Asp23014=)
c.96237T>C (p.Asp32079=)
c.91314T>C (p.Asp30438=)
n.446+20271A>G
n.2043+1546A>G
c.95334T>C (p.Asp31778=)
c.69228T>C (p.Asp23076=)
c.69087T>C (p.Asp23029=)
c.95130T>C (p.Asp31710=)
c.90528T>C (p.Asp30176=)
c.90525T>C (p.Asp30175=)
c.87567T>C (p.Asp29189=)
c.69183T>C (p.Asp23061=)
c.90678T>C (p.Asp30226=)
c.90675T>C (p.Asp30225=)
c.90108T>C (p.Asp30036=)
c.87450T>C (p.Asp29150=)
c.87369T>C (p.Asp29123=)
c.69132T>C (p.Asp23044=)
c.58986T>C (p.Asp19662=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543907A>TCA349451044TTN,TTN-AS1c.88533T>A (p.Asp29511Glu)
c.69618T>A (p.Asp23206Glu)
c.69417T>A (p.Asp23139Glu)
c.69042T>A (p.Asp23014Glu)
c.96237T>A (p.Asp32079Glu)
c.91314T>A (p.Asp30438Glu)
n.446+20271A>T
n.2043+1546A>T
c.95334T>A (p.Asp31778Glu)
c.69228T>A (p.Asp23076Glu)
c.69087T>A (p.Asp23029Glu)
c.95130T>A (p.Asp31710Glu)
c.90528T>A (p.Asp30176Glu)
c.90525T>A (p.Asp30175Glu)
c.87567T>A (p.Asp29189Glu)
c.69183T>A (p.Asp23061Glu)
c.90678T>A (p.Asp30226Glu)
c.90675T>A (p.Asp30225Glu)
c.90108T>A (p.Asp30036Glu)
c.87450T>A (p.Asp29150Glu)
c.87369T>A (p.Asp29123Glu)
c.69132T>A (p.Asp23044Glu)
c.58986T>A (p.Asp19662Glu)
2g.178543907_178543908delinsATCA1310521165TTN,TTN-AS1c.88532_88533delinsAT (p.Asp29511=)
c.69617_69618delinsAT (p.Asp23206=)
c.69416_69417delinsAT (p.Asp23139=)
c.69041_69042delinsAT (p.Asp23014=)
c.96236_96237delinsAT (p.Asp32079=)
c.91313_91314delinsAT (p.Asp30438=)
n.446+20271_446+20272delinsAT
n.2043+1546_2043+1547delinsAT
c.95333_95334delinsAT (p.Asp31778=)
c.69227_69228delinsAT (p.Asp23076=)
c.69086_69087delinsAT (p.Asp23029=)
c.95129_95130delinsAT (p.Asp31710=)
c.90527_90528delinsAT (p.Asp30176=)
c.90524_90525delinsAT (p.Asp30175=)
c.87566_87567delinsAT (p.Asp29189=)
c.69182_69183delinsAT (p.Asp23061=)
c.90677_90678delinsAT (p.Asp30226=)
c.90674_90675delinsAT (p.Asp30225=)
c.90107_90108delinsAT (p.Asp30036=)
c.87449_87450delinsAT (p.Asp29150=)
c.87368_87369delinsAT (p.Asp29123=)
c.69131_69132delinsAT (p.Asp23044=)
c.58985_58986delinsAT (p.Asp19662=)
2g.178543907_178543911delinsATCGTCA1310521164TTN,TTN-AS1c.88529_88533delinsACGAT (p.Tyr29510=)
c.69614_69618delinsACGAT (p.Tyr23205=)
c.69413_69417delinsACGAT (p.Tyr23138=)
c.69038_69042delinsACGAT (p.Tyr23013=)
c.96233_96237delinsACGAT (p.Tyr32078=)
c.91310_91314delinsACGAT (p.Tyr30437=)
n.446+20271_446+20275delinsATCGT
n.2043+1546_2043+1550delinsATCGT
c.95330_95334delinsACGAT (p.Tyr31777=)
c.69224_69228delinsACGAT (p.Tyr23075=)
c.69083_69087delinsACGAT (p.Tyr23028=)
c.95126_95130delinsACGAT (p.Tyr31709=)
c.90524_90528delinsACGAT (p.Tyr30175=)
c.90521_90525delinsACGAT (p.Tyr30174=)
c.87563_87567delinsACGAT (p.Tyr29188=)
c.69179_69183delinsACGAT (p.Tyr23060=)
c.90674_90678delinsACGAT (p.Tyr30225=)
c.90671_90675delinsACGAT (p.Tyr30224=)
c.90104_90108delinsACGAT (p.Tyr30035=)
c.87446_87450delinsACGAT (p.Tyr29149=)
c.87365_87369delinsACGAT (p.Tyr29122=)
c.69128_69132delinsACGAT (p.Tyr23043=)
c.58982_58986delinsACGAT (p.Tyr19661=)
2g.178543908delCA538435139TTN,TTN-AS1c.88532del (p.Asp29511ValfsTer?)
c.69617del (p.Asp23206ValfsTer?)
c.69416del (p.Asp23139ValfsTer?)
c.69041del (p.Asp23014ValfsTer?)
c.96236del (p.Asp32079ValfsTer?)
c.91313del (p.Asp30438ValfsTer?)
n.446+20272del
n.2043+1547del
c.95333del (p.Asp31778ValfsTer?)
c.69227del (p.Asp23076ValfsTer?)
c.69086del (p.Asp23029ValfsTer?)
c.95129del (p.Asp31710ValfsTer?)
c.90527del (p.Asp30176ValfsTer?)
c.90524del (p.Asp30175ValfsTer?)
c.87566del (p.Asp29189ValfsTer?)
c.69182del (p.Asp23061ValfsTer?)
c.90677del (p.Asp30226ValfsTer?)
c.90674del (p.Asp30225ValfsTer?)
c.90107del (p.Asp30036ValfsTer?)
c.87449del (p.Asp29150ValfsTer?)
c.87368del (p.Asp29123ValfsTer?)
c.69131del (p.Asp23044ValfsTer?)
c.58985del (p.Asp19662ValfsTer?)
 dbSNP gnomAD v2
2g.178543908T>ACA349451047TTN,TTN-AS1c.88532A>T (p.Asp29511Val)
c.69617A>T (p.Asp23206Val)
c.69416A>T (p.Asp23139Val)
c.69041A>T (p.Asp23014Val)
c.96236A>T (p.Asp32079Val)
c.91313A>T (p.Asp30438Val)
n.446+20272T>A
n.2043+1547T>A
c.95333A>T (p.Asp31778Val)
c.69227A>T (p.Asp23076Val)
c.69086A>T (p.Asp23029Val)
c.95129A>T (p.Asp31710Val)
c.90527A>T (p.Asp30176Val)
c.90524A>T (p.Asp30175Val)
c.87566A>T (p.Asp29189Val)
c.69182A>T (p.Asp23061Val)
c.90677A>T (p.Asp30226Val)
c.90674A>T (p.Asp30225Val)
c.90107A>T (p.Asp30036Val)
c.87449A>T (p.Asp29150Val)
c.87368A>T (p.Asp29123Val)
c.69131A>T (p.Asp23044Val)
c.58985A>T (p.Asp19662Val)
2g.178543908T>CCA349451052TTN,TTN-AS1c.88532A>G (p.Asp29511Gly)
c.69617A>G (p.Asp23206Gly)
c.69416A>G (p.Asp23139Gly)
c.69041A>G (p.Asp23014Gly)
c.96236A>G (p.Asp32079Gly)
c.91313A>G (p.Asp30438Gly)
n.446+20272T>C
n.2043+1547T>C
c.95333A>G (p.Asp31778Gly)
c.69227A>G (p.Asp23076Gly)
c.69086A>G (p.Asp23029Gly)
c.95129A>G (p.Asp31710Gly)
c.90527A>G (p.Asp30176Gly)
c.90524A>G (p.Asp30175Gly)
c.87566A>G (p.Asp29189Gly)
c.69182A>G (p.Asp23061Gly)
c.90677A>G (p.Asp30226Gly)
c.90674A>G (p.Asp30225Gly)
c.90107A>G (p.Asp30036Gly)
c.87449A>G (p.Asp29150Gly)
c.87368A>G (p.Asp29123Gly)
c.69131A>G (p.Asp23044Gly)
c.58985A>G (p.Asp19662Gly)
 dbSNP gnomAD v4
2g.178543908T>GCA349451056TTN,TTN-AS1c.88532A>C (p.Asp29511Ala)
c.69617A>C (p.Asp23206Ala)
c.69416A>C (p.Asp23139Ala)
c.69041A>C (p.Asp23014Ala)
c.96236A>C (p.Asp32079Ala)
c.91313A>C (p.Asp30438Ala)
n.446+20272T>G
n.2043+1547T>G
c.95333A>C (p.Asp31778Ala)
c.69227A>C (p.Asp23076Ala)
c.69086A>C (p.Asp23029Ala)
c.95129A>C (p.Asp31710Ala)
c.90527A>C (p.Asp30176Ala)
c.90524A>C (p.Asp30175Ala)
c.87566A>C (p.Asp29189Ala)
c.69182A>C (p.Asp23061Ala)
c.90677A>C (p.Asp30226Ala)
c.90674A>C (p.Asp30225Ala)
c.90107A>C (p.Asp30036Ala)
c.87449A>C (p.Asp29150Ala)
c.87368A>C (p.Asp29123Ala)
c.69131A>C (p.Asp23044Ala)
c.58985A>C (p.Asp19662Ala)
2g.178543908T=CA1310521170TTN,TTN-AS1c.88532A= (p.Asp29511=)
c.69617A= (p.Asp23206=)
c.69416A= (p.Asp23139=)
c.69041A= (p.Asp23014=)
c.96236A= (p.Asp32079=)
c.91313A= (p.Asp30438=)
n.446+20272T=
n.2043+1547T=
c.95333A= (p.Asp31778=)
c.69227A= (p.Asp23076=)
c.69086A= (p.Asp23029=)
c.95129A= (p.Asp31710=)
c.90527A= (p.Asp30176=)
c.90524A= (p.Asp30175=)
c.87566A= (p.Asp29189=)
c.69182A= (p.Asp23061=)
c.90677A= (p.Asp30226=)
c.90674A= (p.Asp30225=)
c.90107A= (p.Asp30036=)
c.87449A= (p.Asp29150=)
c.87368A= (p.Asp29123=)
c.69131A= (p.Asp23044=)
c.58985A= (p.Asp19662=)
2g.178543908_178543911delinsAGGCA658657129TTN,TTN-AS1c.88529_88532delinsCCT (p.Tyr29510SerfsTer?)
c.69614_69617delinsCCT (p.Tyr23205SerfsTer?)
c.69413_69416delinsCCT (p.Tyr23138SerfsTer?)
c.69038_69041delinsCCT (p.Tyr23013SerfsTer?)
c.96233_96236delinsCCT (p.Tyr32078SerfsTer?)
c.91310_91313delinsCCT (p.Tyr30437SerfsTer?)
n.446+20272_446+20275delinsAGG
n.2043+1547_2043+1550delinsAGG
c.95330_95333delinsCCT (p.Tyr31777SerfsTer?)
c.69224_69227delinsCCT (p.Tyr23075SerfsTer?)
c.69083_69086delinsCCT (p.Tyr23028SerfsTer?)
c.95126_95129delinsCCT (p.Tyr31709SerfsTer?)
c.90524_90527delinsCCT (p.Tyr30175SerfsTer?)
c.90521_90524delinsCCT (p.Tyr30174SerfsTer?)
c.87563_87566delinsCCT (p.Tyr29188SerfsTer?)
c.69179_69182delinsCCT (p.Tyr23060SerfsTer?)
c.90674_90677delinsCCT (p.Tyr30225SerfsTer?)
c.90671_90674delinsCCT (p.Tyr30224SerfsTer?)
c.90104_90107delinsCCT (p.Tyr30035SerfsTer?)
c.87446_87449delinsCCT (p.Tyr29149SerfsTer?)
c.87365_87368delinsCCT (p.Tyr29122SerfsTer?)
c.69128_69131delinsCCT (p.Tyr23043SerfsTer?)
c.58982_58985delinsCCT (p.Tyr19661SerfsTer?)
 ClinVar dbSNP
2g.178543909C>ACA349451059TTN,TTN-AS1c.88531G>T (p.Asp29511Tyr)
c.69616G>T (p.Asp23206Tyr)
c.69415G>T (p.Asp23139Tyr)
c.69040G>T (p.Asp23014Tyr)
c.96235G>T (p.Asp32079Tyr)
c.91312G>T (p.Asp30438Tyr)
n.446+20273C>A
n.2043+1548C>A
c.95332G>T (p.Asp31778Tyr)
c.69226G>T (p.Asp23076Tyr)
c.69085G>T (p.Asp23029Tyr)
c.95128G>T (p.Asp31710Tyr)
c.90526G>T (p.Asp30176Tyr)
c.90523G>T (p.Asp30175Tyr)
c.87565G>T (p.Asp29189Tyr)
c.69181G>T (p.Asp23061Tyr)
c.90676G>T (p.Asp30226Tyr)
c.90673G>T (p.Asp30225Tyr)
c.90106G>T (p.Asp30036Tyr)
c.87448G>T (p.Asp29150Tyr)
c.87367G>T (p.Asp29123Tyr)
c.69130G>T (p.Asp23044Tyr)
c.58984G>T (p.Asp19662Tyr)
 dbSNP gnomAD v2
2g.178543909C=CA1310521173TTN,TTN-AS1c.88531G= (p.Asp29511=)
c.69616G= (p.Asp23206=)
c.69415G= (p.Asp23139=)
c.69040G= (p.Asp23014=)
c.96235G= (p.Asp32079=)
c.91312G= (p.Asp30438=)
n.446+20273C=
n.2043+1548C=
c.95332G= (p.Asp31778=)
c.69226G= (p.Asp23076=)
c.69085G= (p.Asp23029=)
c.95128G= (p.Asp31710=)
c.90526G= (p.Asp30176=)
c.90523G= (p.Asp30175=)
c.87565G= (p.Asp29189=)
c.69181G= (p.Asp23061=)
c.90676G= (p.Asp30226=)
c.90673G= (p.Asp30225=)
c.90106G= (p.Asp30036=)
c.87448G= (p.Asp29150=)
c.87367G= (p.Asp29123=)
c.69130G= (p.Asp23044=)
c.58984G= (p.Asp19662=)
2g.178543909C>GCA1986794TTN,TTN-AS1c.88531G>C (p.Asp29511His)
c.69616G>C (p.Asp23206His)
c.69415G>C (p.Asp23139His)
c.69040G>C (p.Asp23014His)
c.96235G>C (p.Asp32079His)
c.91312G>C (p.Asp30438His)
n.446+20273C>G
n.2043+1548C>G
c.95332G>C (p.Asp31778His)
c.69226G>C (p.Asp23076His)
c.69085G>C (p.Asp23029His)
c.95128G>C (p.Asp31710His)
c.90526G>C (p.Asp30176His)
c.90523G>C (p.Asp30175His)
c.87565G>C (p.Asp29189His)
c.69181G>C (p.Asp23061His)
c.90676G>C (p.Asp30226His)
c.90673G>C (p.Asp30225His)
c.90106G>C (p.Asp30036His)
c.87448G>C (p.Asp29150His)
c.87367G>C (p.Asp29123His)
c.69130G>C (p.Asp23044His)
c.58984G>C (p.Asp19662His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543909C>TCA302919TTN,TTN-AS1c.88531G>A (p.Asp29511Asn)
c.69616G>A (p.Asp23206Asn)
c.69415G>A (p.Asp23139Asn)
c.69040G>A (p.Asp23014Asn)
c.96235G>A (p.Asp32079Asn)
c.91312G>A (p.Asp30438Asn)
n.446+20273C>T
n.2043+1548C>T
c.95332G>A (p.Asp31778Asn)
c.69226G>A (p.Asp23076Asn)
c.69085G>A (p.Asp23029Asn)
c.95128G>A (p.Asp31710Asn)
c.90526G>A (p.Asp30176Asn)
c.90523G>A (p.Asp30175Asn)
c.87565G>A (p.Asp29189Asn)
c.69181G>A (p.Asp23061Asn)
c.90676G>A (p.Asp30226Asn)
c.90673G>A (p.Asp30225Asn)
c.90106G>A (p.Asp30036Asn)
c.87448G>A (p.Asp29150Asn)
c.87367G>A (p.Asp29123Asn)
c.69130G>A (p.Asp23044Asn)
c.58984G>A (p.Asp19662Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543910G>ACA141370TTN,TTN-AS1c.88530C>T (p.Tyr29510=)
c.69615C>T (p.Tyr23205=)
c.69414C>T (p.Tyr23138=)
c.69039C>T (p.Tyr23013=)
c.96234C>T (p.Tyr32078=)
c.91311C>T (p.Tyr30437=)
n.446+20274G>A
n.2043+1549G>A
c.95331C>T (p.Tyr31777=)
c.69225C>T (p.Tyr23075=)
c.69084C>T (p.Tyr23028=)
c.95127C>T (p.Tyr31709=)
c.90525C>T (p.Tyr30175=)
c.90522C>T (p.Tyr30174=)
c.87564C>T (p.Tyr29188=)
c.69180C>T (p.Tyr23060=)
c.90675C>T (p.Tyr30225=)
c.90672C>T (p.Tyr30224=)
c.90105C>T (p.Tyr30035=)
c.87447C>T (p.Tyr29149=)
c.87366C>T (p.Tyr29122=)
c.69129C>T (p.Tyr23043=)
c.58983C>T (p.Tyr19661=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543910G>CCA349451072TTN,TTN-AS1c.88530C>G (p.Tyr29510Ter)
c.69615C>G (p.Tyr23205Ter)
c.69414C>G (p.Tyr23138Ter)
c.69039C>G (p.Tyr23013Ter)
c.96234C>G (p.Tyr32078Ter)
c.91311C>G (p.Tyr30437Ter)
n.446+20274G>C
n.2043+1549G>C
c.95331C>G (p.Tyr31777Ter)
c.69225C>G (p.Tyr23075Ter)
c.69084C>G (p.Tyr23028Ter)
c.95127C>G (p.Tyr31709Ter)
c.90525C>G (p.Tyr30175Ter)
c.90522C>G (p.Tyr30174Ter)
c.87564C>G (p.Tyr29188Ter)
c.69180C>G (p.Tyr23060Ter)
c.90675C>G (p.Tyr30225Ter)
c.90672C>G (p.Tyr30224Ter)
c.90105C>G (p.Tyr30035Ter)
c.87447C>G (p.Tyr29149Ter)
c.87366C>G (p.Tyr29122Ter)
c.69129C>G (p.Tyr23043Ter)
c.58983C>G (p.Tyr19661Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178543910G=CA1310521177TTN,TTN-AS1c.88530C= (p.Tyr29510=)
c.69615C= (p.Tyr23205=)
c.69414C= (p.Tyr23138=)
c.69039C= (p.Tyr23013=)
c.96234C= (p.Tyr32078=)
c.91311C= (p.Tyr30437=)
n.446+20274G=
n.2043+1549G=
c.95331C= (p.Tyr31777=)
c.69225C= (p.Tyr23075=)
c.69084C= (p.Tyr23028=)
c.95127C= (p.Tyr31709=)
c.90525C= (p.Tyr30175=)
c.90522C= (p.Tyr30174=)
c.87564C= (p.Tyr29188=)
c.69180C= (p.Tyr23060=)
c.90675C= (p.Tyr30225=)
c.90672C= (p.Tyr30224=)
c.90105C= (p.Tyr30035=)
c.87447C= (p.Tyr29149=)
c.87366C= (p.Tyr29122=)
c.69129C= (p.Tyr23043=)
c.58983C= (p.Tyr19661=)
2g.178543910G>TCA349451073TTN,TTN-AS1c.88530C>A (p.Tyr29510Ter)
c.69615C>A (p.Tyr23205Ter)
c.69414C>A (p.Tyr23138Ter)
c.69039C>A (p.Tyr23013Ter)
c.96234C>A (p.Tyr32078Ter)
c.91311C>A (p.Tyr30437Ter)
n.446+20274G>T
n.2043+1549G>T
c.95331C>A (p.Tyr31777Ter)
c.69225C>A (p.Tyr23075Ter)
c.69084C>A (p.Tyr23028Ter)
c.95127C>A (p.Tyr31709Ter)
c.90525C>A (p.Tyr30175Ter)
c.90522C>A (p.Tyr30174Ter)
c.87564C>A (p.Tyr29188Ter)
c.69180C>A (p.Tyr23060Ter)
c.90675C>A (p.Tyr30225Ter)
c.90672C>A (p.Tyr30224Ter)
c.90105C>A (p.Tyr30035Ter)
c.87447C>A (p.Tyr29149Ter)
c.87366C>A (p.Tyr29122Ter)
c.69129C>A (p.Tyr23043Ter)
c.58983C>A (p.Tyr19661Ter)
2g.178543911T>ACA349451074TTN,TTN-AS1c.88529A>T (p.Tyr29510Phe)
c.69614A>T (p.Tyr23205Phe)
c.69413A>T (p.Tyr23138Phe)
c.69038A>T (p.Tyr23013Phe)
c.96233A>T (p.Tyr32078Phe)
c.91310A>T (p.Tyr30437Phe)
n.446+20275T>A
n.2043+1550T>A
c.95330A>T (p.Tyr31777Phe)
c.69224A>T (p.Tyr23075Phe)
c.69083A>T (p.Tyr23028Phe)
c.95126A>T (p.Tyr31709Phe)
c.90524A>T (p.Tyr30175Phe)
c.90521A>T (p.Tyr30174Phe)
c.87563A>T (p.Tyr29188Phe)
c.69179A>T (p.Tyr23060Phe)
c.90674A>T (p.Tyr30225Phe)
c.90671A>T (p.Tyr30224Phe)
c.90104A>T (p.Tyr30035Phe)
c.87446A>T (p.Tyr29149Phe)
c.87365A>T (p.Tyr29122Phe)
c.69128A>T (p.Tyr23043Phe)
c.58982A>T (p.Tyr19661Phe)
2g.178543911T>CCA349451075TTN,TTN-AS1c.88529A>G (p.Tyr29510Cys)
c.69614A>G (p.Tyr23205Cys)
c.69413A>G (p.Tyr23138Cys)
c.69038A>G (p.Tyr23013Cys)
c.96233A>G (p.Tyr32078Cys)
c.91310A>G (p.Tyr30437Cys)
n.446+20275T>C
n.2043+1550T>C
c.95330A>G (p.Tyr31777Cys)
c.69224A>G (p.Tyr23075Cys)
c.69083A>G (p.Tyr23028Cys)
c.95126A>G (p.Tyr31709Cys)
c.90524A>G (p.Tyr30175Cys)
c.90521A>G (p.Tyr30174Cys)
c.87563A>G (p.Tyr29188Cys)
c.69179A>G (p.Tyr23060Cys)
c.90674A>G (p.Tyr30225Cys)
c.90671A>G (p.Tyr30224Cys)
c.90104A>G (p.Tyr30035Cys)
c.87446A>G (p.Tyr29149Cys)
c.87365A>G (p.Tyr29122Cys)
c.69128A>G (p.Tyr23043Cys)
c.58982A>G (p.Tyr19661Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178543911T>GCA349451077TTN,TTN-AS1c.88529A>C (p.Tyr29510Ser)
c.69614A>C (p.Tyr23205Ser)
c.69413A>C (p.Tyr23138Ser)
c.69038A>C (p.Tyr23013Ser)
c.96233A>C (p.Tyr32078Ser)
c.91310A>C (p.Tyr30437Ser)
n.446+20275T>G
n.2043+1550T>G
c.95330A>C (p.Tyr31777Ser)
c.69224A>C (p.Tyr23075Ser)
c.69083A>C (p.Tyr23028Ser)
c.95126A>C (p.Tyr31709Ser)
c.90524A>C (p.Tyr30175Ser)
c.90521A>C (p.Tyr30174Ser)
c.87563A>C (p.Tyr29188Ser)
c.69179A>C (p.Tyr23060Ser)
c.90674A>C (p.Tyr30225Ser)
c.90671A>C (p.Tyr30224Ser)
c.90104A>C (p.Tyr30035Ser)
c.87446A>C (p.Tyr29149Ser)
c.87365A>C (p.Tyr29122Ser)
c.69128A>C (p.Tyr23043Ser)
c.58982A>C (p.Tyr19661Ser)
 dbSNP gnomAD v2
2g.178543911T=CA1310521179TTN,TTN-AS1c.88529A= (p.Tyr29510=)
c.69614A= (p.Tyr23205=)
c.69413A= (p.Tyr23138=)
c.69038A= (p.Tyr23013=)
c.96233A= (p.Tyr32078=)
c.91310A= (p.Tyr30437=)
n.446+20275T=
n.2043+1550T=
c.95330A= (p.Tyr31777=)
c.69224A= (p.Tyr23075=)
c.69083A= (p.Tyr23028=)
c.95126A= (p.Tyr31709=)
c.90524A= (p.Tyr30175=)
c.90521A= (p.Tyr30174=)
c.87563A= (p.Tyr29188=)
c.69179A= (p.Tyr23060=)
c.90674A= (p.Tyr30225=)
c.90671A= (p.Tyr30224=)
c.90104A= (p.Tyr30035=)
c.87446A= (p.Tyr29149=)
c.87365A= (p.Tyr29122=)
c.69128A= (p.Tyr23043=)
c.58982A= (p.Tyr19661=)
2g.178543912A>CCA349451081TTN,TTN-AS1c.88528T>G (p.Tyr29510Asp)
c.69613T>G (p.Tyr23205Asp)
c.69412T>G (p.Tyr23138Asp)
c.69037T>G (p.Tyr23013Asp)
c.96232T>G (p.Tyr32078Asp)
c.91309T>G (p.Tyr30437Asp)
n.446+20276A>C
n.2043+1551A>C
c.95329T>G (p.Tyr31777Asp)
c.69223T>G (p.Tyr23075Asp)
c.69082T>G (p.Tyr23028Asp)
c.95125T>G (p.Tyr31709Asp)
c.90523T>G (p.Tyr30175Asp)
c.90520T>G (p.Tyr30174Asp)
c.87562T>G (p.Tyr29188Asp)
c.69178T>G (p.Tyr23060Asp)
c.90673T>G (p.Tyr30225Asp)
c.90670T>G (p.Tyr30224Asp)
c.90103T>G (p.Tyr30035Asp)
c.87445T>G (p.Tyr29149Asp)
c.87364T>G (p.Tyr29122Asp)
c.69127T>G (p.Tyr23043Asp)
c.58981T>G (p.Tyr19661Asp)
2g.178543912A>GCA349451083TTN,TTN-AS1c.88528T>C (p.Tyr29510His)
c.69613T>C (p.Tyr23205His)
c.69412T>C (p.Tyr23138His)
c.69037T>C (p.Tyr23013His)
c.96232T>C (p.Tyr32078His)
c.91309T>C (p.Tyr30437His)
n.446+20276A>G
n.2043+1551A>G
c.95329T>C (p.Tyr31777His)
c.69223T>C (p.Tyr23075His)
c.69082T>C (p.Tyr23028His)
c.95125T>C (p.Tyr31709His)
c.90523T>C (p.Tyr30175His)
c.90520T>C (p.Tyr30174His)
c.87562T>C (p.Tyr29188His)
c.69178T>C (p.Tyr23060His)
c.90673T>C (p.Tyr30225His)
c.90670T>C (p.Tyr30224His)
c.90103T>C (p.Tyr30035His)
c.87445T>C (p.Tyr29149His)
c.87364T>C (p.Tyr29122His)
c.69127T>C (p.Tyr23043His)
c.58981T>C (p.Tyr19661His)
2g.178543912A>TCA349451078TTN,TTN-AS1c.88528T>A (p.Tyr29510Asn)
c.69613T>A (p.Tyr23205Asn)
c.69412T>A (p.Tyr23138Asn)
c.69037T>A (p.Tyr23013Asn)
c.96232T>A (p.Tyr32078Asn)
c.91309T>A (p.Tyr30437Asn)
n.446+20276A>T
n.2043+1551A>T
c.95329T>A (p.Tyr31777Asn)
c.69223T>A (p.Tyr23075Asn)
c.69082T>A (p.Tyr23028Asn)
c.95125T>A (p.Tyr31709Asn)
c.90523T>A (p.Tyr30175Asn)
c.90520T>A (p.Tyr30174Asn)
c.87562T>A (p.Tyr29188Asn)
c.69178T>A (p.Tyr23060Asn)
c.90673T>A (p.Tyr30225Asn)
c.90670T>A (p.Tyr30224Asn)
c.90103T>A (p.Tyr30035Asn)
c.87445T>A (p.Tyr29149Asn)
c.87364T>A (p.Tyr29122Asn)
c.69127T>A (p.Tyr23043Asn)
c.58981T>A (p.Tyr19661Asn)
2g.178543913C>ACA430241632TTN,TTN-AS1c.88527G>T (p.Arg29509=)
c.69612G>T (p.Arg23204=)
c.69411G>T (p.Arg23137=)
c.69036G>T (p.Arg23012=)
c.96231G>T (p.Arg32077=)
c.91308G>T (p.Arg30436=)
n.446+20277C>A
n.2043+1552C>A
c.95328G>T (p.Arg31776=)
c.69222G>T (p.Arg23074=)
c.69081G>T (p.Arg23027=)
c.95124G>T (p.Arg31708=)
c.90522G>T (p.Arg30174=)
c.90519G>T (p.Arg30173=)
c.87561G>T (p.Arg29187=)
c.69177G>T (p.Arg23059=)
c.90672G>T (p.Arg30224=)
c.90669G>T (p.Arg30223=)
c.90102G>T (p.Arg30034=)
c.87444G>T (p.Arg29148=)
c.87363G>T (p.Arg29121=)
c.69126G>T (p.Arg23042=)
c.58980G>T (p.Arg19660=)
2g.178543913C>GCA430241636TTN,TTN-AS1c.88527G>C (p.Arg29509=)
c.69612G>C (p.Arg23204=)
c.69411G>C (p.Arg23137=)
c.69036G>C (p.Arg23012=)
c.96231G>C (p.Arg32077=)
c.91308G>C (p.Arg30436=)
n.446+20277C>G
n.2043+1552C>G
c.95328G>C (p.Arg31776=)
c.69222G>C (p.Arg23074=)
c.69081G>C (p.Arg23027=)
c.95124G>C (p.Arg31708=)
c.90522G>C (p.Arg30174=)
c.90519G>C (p.Arg30173=)
c.87561G>C (p.Arg29187=)
c.69177G>C (p.Arg23059=)
c.90672G>C (p.Arg30224=)
c.90669G>C (p.Arg30223=)
c.90102G>C (p.Arg30034=)
c.87444G>C (p.Arg29148=)
c.87363G>C (p.Arg29121=)
c.69126G>C (p.Arg23042=)
c.58980G>C (p.Arg19660=)
 gnomAD v4
2g.178543913C>TCA430241639TTN,TTN-AS1c.88527G>A (p.Arg29509=)
c.69612G>A (p.Arg23204=)
c.69411G>A (p.Arg23137=)
c.69036G>A (p.Arg23012=)
c.96231G>A (p.Arg32077=)
c.91308G>A (p.Arg30436=)
n.446+20277C>T
n.2043+1552C>T
c.95328G>A (p.Arg31776=)
c.69222G>A (p.Arg23074=)
c.69081G>A (p.Arg23027=)
c.95124G>A (p.Arg31708=)
c.90522G>A (p.Arg30174=)
c.90519G>A (p.Arg30173=)
c.87561G>A (p.Arg29187=)
c.69177G>A (p.Arg23059=)
c.90672G>A (p.Arg30224=)
c.90669G>A (p.Arg30223=)
c.90102G>A (p.Arg30034=)
c.87444G>A (p.Arg29148=)
c.87363G>A (p.Arg29121=)
c.69126G>A (p.Arg23042=)
c.58980G>A (p.Arg19660=)
 gnomAD v4
2g.178543914C>ACA349451089TTN,TTN-AS1c.88526G>T (p.Arg29509Leu)
c.69611G>T (p.Arg23204Leu)
c.69410G>T (p.Arg23137Leu)
c.69035G>T (p.Arg23012Leu)
c.96230G>T (p.Arg32077Leu)
c.91307G>T (p.Arg30436Leu)
n.446+20278C>A
n.2043+1553C>A
c.95327G>T (p.Arg31776Leu)
c.69221G>T (p.Arg23074Leu)
c.69080G>T (p.Arg23027Leu)
c.95123G>T (p.Arg31708Leu)
c.90521G>T (p.Arg30174Leu)
c.90518G>T (p.Arg30173Leu)
c.87560G>T (p.Arg29187Leu)
c.69176G>T (p.Arg23059Leu)
c.90671G>T (p.Arg30224Leu)
c.90668G>T (p.Arg30223Leu)
c.90101G>T (p.Arg30034Leu)
c.87443G>T (p.Arg29148Leu)
c.87362G>T (p.Arg29121Leu)
c.69125G>T (p.Arg23042Leu)
c.58979G>T (p.Arg19660Leu)
2g.178543914C=CA1310521181TTN,TTN-AS1c.88526G= (p.Arg29509=)
c.69611G= (p.Arg23204=)
c.69410G= (p.Arg23137=)
c.69035G= (p.Arg23012=)
c.96230G= (p.Arg32077=)
c.91307G= (p.Arg30436=)
n.446+20278C=
n.2043+1553C=
c.95327G= (p.Arg31776=)
c.69221G= (p.Arg23074=)
c.69080G= (p.Arg23027=)
c.95123G= (p.Arg31708=)
c.90521G= (p.Arg30174=)
c.90518G= (p.Arg30173=)
c.87560G= (p.Arg29187=)
c.69176G= (p.Arg23059=)
c.90671G= (p.Arg30224=)
c.90668G= (p.Arg30223=)
c.90101G= (p.Arg30034=)
c.87443G= (p.Arg29148=)
c.87362G= (p.Arg29121=)
c.69125G= (p.Arg23042=)
c.58979G= (p.Arg19660=)
2g.178543914C>GCA349451087TTN,TTN-AS1c.88526G>C (p.Arg29509Pro)
c.69611G>C (p.Arg23204Pro)
c.69410G>C (p.Arg23137Pro)
c.69035G>C (p.Arg23012Pro)
c.96230G>C (p.Arg32077Pro)
c.91307G>C (p.Arg30436Pro)
n.446+20278C>G
n.2043+1553C>G
c.95327G>C (p.Arg31776Pro)
c.69221G>C (p.Arg23074Pro)
c.69080G>C (p.Arg23027Pro)
c.95123G>C (p.Arg31708Pro)
c.90521G>C (p.Arg30174Pro)
c.90518G>C (p.Arg30173Pro)
c.87560G>C (p.Arg29187Pro)
c.69176G>C (p.Arg23059Pro)
c.90671G>C (p.Arg30224Pro)
c.90668G>C (p.Arg30223Pro)
c.90101G>C (p.Arg30034Pro)
c.87443G>C (p.Arg29148Pro)
c.87362G>C (p.Arg29121Pro)
c.69125G>C (p.Arg23042Pro)
c.58979G>C (p.Arg19660Pro)
2g.178543914C>TCA1986795TTN,TTN-AS1c.88526G>A (p.Arg29509Gln)
c.69611G>A (p.Arg23204Gln)
c.69410G>A (p.Arg23137Gln)
c.69035G>A (p.Arg23012Gln)
c.96230G>A (p.Arg32077Gln)
c.91307G>A (p.Arg30436Gln)
n.446+20278C>T
n.2043+1553C>T
c.95327G>A (p.Arg31776Gln)
c.69221G>A (p.Arg23074Gln)
c.69080G>A (p.Arg23027Gln)
c.95123G>A (p.Arg31708Gln)
c.90521G>A (p.Arg30174Gln)
c.90518G>A (p.Arg30173Gln)
c.87560G>A (p.Arg29187Gln)
c.69176G>A (p.Arg23059Gln)
c.90671G>A (p.Arg30224Gln)
c.90668G>A (p.Arg30223Gln)
c.90101G>A (p.Arg30034Gln)
c.87443G>A (p.Arg29148Gln)
c.87362G>A (p.Arg29121Gln)
c.69125G>A (p.Arg23042Gln)
c.58979G>A (p.Arg19660Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543915G>ACA1986796TTN,TTN-AS1c.88525C>T (p.Arg29509Trp)
c.69610C>T (p.Arg23204Trp)
c.69409C>T (p.Arg23137Trp)
c.69034C>T (p.Arg23012Trp)
c.96229C>T (p.Arg32077Trp)
c.91306C>T (p.Arg30436Trp)
n.446+20279G>A
n.2043+1554G>A
c.95326C>T (p.Arg31776Trp)
c.69220C>T (p.Arg23074Trp)
c.69079C>T (p.Arg23027Trp)
c.95122C>T (p.Arg31708Trp)
c.90520C>T (p.Arg30174Trp)
c.90517C>T (p.Arg30173Trp)
c.87559C>T (p.Arg29187Trp)
c.69175C>T (p.Arg23059Trp)
c.90670C>T (p.Arg30224Trp)
c.90667C>T (p.Arg30223Trp)
c.90100C>T (p.Arg30034Trp)
c.87442C>T (p.Arg29148Trp)
c.87361C>T (p.Arg29121Trp)
c.69124C>T (p.Arg23042Trp)
c.58978C>T (p.Arg19660Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543915G>CCA349451092TTN,TTN-AS1c.88525C>G (p.Arg29509Gly)
c.69610C>G (p.Arg23204Gly)
c.69409C>G (p.Arg23137Gly)
c.69034C>G (p.Arg23012Gly)
c.96229C>G (p.Arg32077Gly)
c.91306C>G (p.Arg30436Gly)
n.446+20279G>C
n.2043+1554G>C
c.95326C>G (p.Arg31776Gly)
c.69220C>G (p.Arg23074Gly)
c.69079C>G (p.Arg23027Gly)
c.95122C>G (p.Arg31708Gly)
c.90520C>G (p.Arg30174Gly)
c.90517C>G (p.Arg30173Gly)
c.87559C>G (p.Arg29187Gly)
c.69175C>G (p.Arg23059Gly)
c.90670C>G (p.Arg30224Gly)
c.90667C>G (p.Arg30223Gly)
c.90100C>G (p.Arg30034Gly)
c.87442C>G (p.Arg29148Gly)
c.87361C>G (p.Arg29121Gly)
c.69124C>G (p.Arg23042Gly)
c.58978C>G (p.Arg19660Gly)
2g.178543915G=CA1310521183TTN,TTN-AS1c.88525C= (p.Arg29509=)
c.69610C= (p.Arg23204=)
c.69409C= (p.Arg23137=)
c.69034C= (p.Arg23012=)
c.96229C= (p.Arg32077=)
c.91306C= (p.Arg30436=)
n.446+20279G=
n.2043+1554G=
c.95326C= (p.Arg31776=)
c.69220C= (p.Arg23074=)
c.69079C= (p.Arg23027=)
c.95122C= (p.Arg31708=)
c.90520C= (p.Arg30174=)
c.90517C= (p.Arg30173=)
c.87559C= (p.Arg29187=)
c.69175C= (p.Arg23059=)
c.90670C= (p.Arg30224=)
c.90667C= (p.Arg30223=)
c.90100C= (p.Arg30034=)
c.87442C= (p.Arg29148=)
c.87361C= (p.Arg29121=)
c.69124C= (p.Arg23042=)
c.58978C= (p.Arg19660=)
2g.178543915G>TCA430241644TTN,TTN-AS1c.88525C>A (p.Arg29509=)
c.69610C>A (p.Arg23204=)
c.69409C>A (p.Arg23137=)
c.69034C>A (p.Arg23012=)
c.96229C>A (p.Arg32077=)
c.91306C>A (p.Arg30436=)
n.446+20279G>T
n.2043+1554G>T
c.95326C>A (p.Arg31776=)
c.69220C>A (p.Arg23074=)
c.69079C>A (p.Arg23027=)
c.95122C>A (p.Arg31708=)
c.90520C>A (p.Arg30174=)
c.90517C>A (p.Arg30173=)
c.87559C>A (p.Arg29187=)
c.69175C>A (p.Arg23059=)
c.90670C>A (p.Arg30224=)
c.90667C>A (p.Arg30223=)
c.90100C>A (p.Arg30034=)
c.87442C>A (p.Arg29148=)
c.87361C>A (p.Arg29121=)
c.69124C>A (p.Arg23042=)
c.58978C>A (p.Arg19660=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178543916A=CA1310521186TTN,TTN-AS1c.88524T= (p.Asn29508=)
c.69609T= (p.Asn23203=)
c.69408T= (p.Asn23136=)
c.69033T= (p.Asn23011=)
c.96228T= (p.Asn32076=)
c.91305T= (p.Asn30435=)
n.446+20280A=
n.2043+1555A=
c.95325T= (p.Asn31775=)
c.69219T= (p.Asn23073=)
c.69078T= (p.Asn23026=)
c.95121T= (p.Asn31707=)
c.90519T= (p.Asn30173=)
c.90516T= (p.Asn30172=)
c.87558T= (p.Asn29186=)
c.69174T= (p.Asn23058=)
c.90669T= (p.Asn30223=)
c.90666T= (p.Asn30222=)
c.90099T= (p.Asn30033=)
c.87441T= (p.Asn29147=)
c.87360T= (p.Asn29120=)
c.69123T= (p.Asn23041=)
c.58977T= (p.Asn19659=)
2g.178543916A>CCA349451093TTN,TTN-AS1c.88524T>G (p.Asn29508Lys)
c.69609T>G (p.Asn23203Lys)
c.69408T>G (p.Asn23136Lys)
c.69033T>G (p.Asn23011Lys)
c.96228T>G (p.Asn32076Lys)
c.91305T>G (p.Asn30435Lys)
n.446+20280A>C
n.2043+1555A>C
c.95325T>G (p.Asn31775Lys)
c.69219T>G (p.Asn23073Lys)
c.69078T>G (p.Asn23026Lys)
c.95121T>G (p.Asn31707Lys)
c.90519T>G (p.Asn30173Lys)
c.90516T>G (p.Asn30172Lys)
c.87558T>G (p.Asn29186Lys)
c.69174T>G (p.Asn23058Lys)
c.90669T>G (p.Asn30223Lys)
c.90666T>G (p.Asn30222Lys)
c.90099T>G (p.Asn30033Lys)
c.87441T>G (p.Asn29147Lys)
c.87360T>G (p.Asn29120Lys)
c.69123T>G (p.Asn23041Lys)
c.58977T>G (p.Asn19659Lys)
2g.178543916A>GCA1986797TTN,TTN-AS1c.88524T>C (p.Asn29508=)
c.69609T>C (p.Asn23203=)
c.69408T>C (p.Asn23136=)
c.69033T>C (p.Asn23011=)
c.96228T>C (p.Asn32076=)
c.91305T>C (p.Asn30435=)
n.446+20280A>G
n.2043+1555A>G
c.95325T>C (p.Asn31775=)
c.69219T>C (p.Asn23073=)
c.69078T>C (p.Asn23026=)
c.95121T>C (p.Asn31707=)
c.90519T>C (p.Asn30173=)
c.90516T>C (p.Asn30172=)
c.87558T>C (p.Asn29186=)
c.69174T>C (p.Asn23058=)
c.90669T>C (p.Asn30223=)
c.90666T>C (p.Asn30222=)
c.90099T>C (p.Asn30033=)
c.87441T>C (p.Asn29147=)
c.87360T>C (p.Asn29120=)
c.69123T>C (p.Asn23041=)
c.58977T>C (p.Asn19659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543916A>TCA349451096TTN,TTN-AS1c.88524T>A (p.Asn29508Lys)
c.69609T>A (p.Asn23203Lys)
c.69408T>A (p.Asn23136Lys)
c.69033T>A (p.Asn23011Lys)
c.96228T>A (p.Asn32076Lys)
c.91305T>A (p.Asn30435Lys)
n.446+20280A>T
n.2043+1555A>T
c.95325T>A (p.Asn31775Lys)
c.69219T>A (p.Asn23073Lys)
c.69078T>A (p.Asn23026Lys)
c.95121T>A (p.Asn31707Lys)
c.90519T>A (p.Asn30173Lys)
c.90516T>A (p.Asn30172Lys)
c.87558T>A (p.Asn29186Lys)
c.69174T>A (p.Asn23058Lys)
c.90669T>A (p.Asn30223Lys)
c.90666T>A (p.Asn30222Lys)
c.90099T>A (p.Asn30033Lys)
c.87441T>A (p.Asn29147Lys)
c.87360T>A (p.Asn29120Lys)
c.69123T>A (p.Asn23041Lys)
c.58977T>A (p.Asn19659Lys)
2g.178543917T>ACA349451110TTN,TTN-AS1c.88523A>T (p.Asn29508Ile)
c.69608A>T (p.Asn23203Ile)
c.69407A>T (p.Asn23136Ile)
c.69032A>T (p.Asn23011Ile)
c.96227A>T (p.Asn32076Ile)
c.91304A>T (p.Asn30435Ile)
n.446+20281T>A
n.2043+1556T>A
c.95324A>T (p.Asn31775Ile)
c.69218A>T (p.Asn23073Ile)
c.69077A>T (p.Asn23026Ile)
c.95120A>T (p.Asn31707Ile)
c.90518A>T (p.Asn30173Ile)
c.90515A>T (p.Asn30172Ile)
c.87557A>T (p.Asn29186Ile)
c.69173A>T (p.Asn23058Ile)
c.90668A>T (p.Asn30223Ile)
c.90665A>T (p.Asn30222Ile)
c.90098A>T (p.Asn30033Ile)
c.87440A>T (p.Asn29147Ile)
c.87359A>T (p.Asn29120Ile)
c.69122A>T (p.Asn23041Ile)
c.58976A>T (p.Asn19659Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178543917T>CCA1986798TTN,TTN-AS1c.88523A>G (p.Asn29508Ser)
c.69608A>G (p.Asn23203Ser)
c.69407A>G (p.Asn23136Ser)
c.69032A>G (p.Asn23011Ser)
c.96227A>G (p.Asn32076Ser)
c.91304A>G (p.Asn30435Ser)
n.446+20281T>C
n.2043+1556T>C
c.95324A>G (p.Asn31775Ser)
c.69218A>G (p.Asn23073Ser)
c.69077A>G (p.Asn23026Ser)
c.95120A>G (p.Asn31707Ser)
c.90518A>G (p.Asn30173Ser)
c.90515A>G (p.Asn30172Ser)
c.87557A>G (p.Asn29186Ser)
c.69173A>G (p.Asn23058Ser)
c.90668A>G (p.Asn30223Ser)
c.90665A>G (p.Asn30222Ser)
c.90098A>G (p.Asn30033Ser)
c.87440A>G (p.Asn29147Ser)
c.87359A>G (p.Asn29120Ser)
c.69122A>G (p.Asn23041Ser)
c.58976A>G (p.Asn19659Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543917T>GCA349451118TTN,TTN-AS1c.88523A>C (p.Asn29508Thr)
c.69608A>C (p.Asn23203Thr)
c.69407A>C (p.Asn23136Thr)
c.69032A>C (p.Asn23011Thr)
c.96227A>C (p.Asn32076Thr)
c.91304A>C (p.Asn30435Thr)
n.446+20281T>G
n.2043+1556T>G
c.95324A>C (p.Asn31775Thr)
c.69218A>C (p.Asn23073Thr)
c.69077A>C (p.Asn23026Thr)
c.95120A>C (p.Asn31707Thr)
c.90518A>C (p.Asn30173Thr)
c.90515A>C (p.Asn30172Thr)
c.87557A>C (p.Asn29186Thr)
c.69173A>C (p.Asn23058Thr)
c.90668A>C (p.Asn30223Thr)
c.90665A>C (p.Asn30222Thr)
c.90098A>C (p.Asn30033Thr)
c.87440A>C (p.Asn29147Thr)
c.87359A>C (p.Asn29120Thr)
c.69122A>C (p.Asn23041Thr)
c.58976A>C (p.Asn19659Thr)
2g.178543917T=CA1310521187TTN,TTN-AS1c.88523A= (p.Asn29508=)
c.69608A= (p.Asn23203=)
c.69407A= (p.Asn23136=)
c.69032A= (p.Asn23011=)
c.96227A= (p.Asn32076=)
c.91304A= (p.Asn30435=)
n.446+20281T=
n.2043+1556T=
c.95324A= (p.Asn31775=)
c.69218A= (p.Asn23073=)
c.69077A= (p.Asn23026=)
c.95120A= (p.Asn31707=)
c.90518A= (p.Asn30173=)
c.90515A= (p.Asn30172=)
c.87557A= (p.Asn29186=)
c.69173A= (p.Asn23058=)
c.90668A= (p.Asn30223=)
c.90665A= (p.Asn30222=)
c.90098A= (p.Asn30033=)
c.87440A= (p.Asn29147=)
c.87359A= (p.Asn29120=)
c.69122A= (p.Asn23041=)
c.58976A= (p.Asn19659=)
2g.178543918T>ACA349451125TTN,TTN-AS1c.88522A>T (p.Asn29508Tyr)
c.69607A>T (p.Asn23203Tyr)
c.69406A>T (p.Asn23136Tyr)
c.69031A>T (p.Asn23011Tyr)
c.96226A>T (p.Asn32076Tyr)
c.91303A>T (p.Asn30435Tyr)
n.446+20282T>A
n.2043+1557T>A
c.95323A>T (p.Asn31775Tyr)
c.69217A>T (p.Asn23073Tyr)
c.69076A>T (p.Asn23026Tyr)
c.95119A>T (p.Asn31707Tyr)
c.90517A>T (p.Asn30173Tyr)
c.90514A>T (p.Asn30172Tyr)
c.87556A>T (p.Asn29186Tyr)
c.69172A>T (p.Asn23058Tyr)
c.90667A>T (p.Asn30223Tyr)
c.90664A>T (p.Asn30222Tyr)
c.90097A>T (p.Asn30033Tyr)
c.87439A>T (p.Asn29147Tyr)
c.87358A>T (p.Asn29120Tyr)
c.69121A>T (p.Asn23041Tyr)
c.58975A>T (p.Asn19659Tyr)
2g.178543918T>CCA349451135TTN,TTN-AS1c.88522A>G (p.Asn29508Asp)
c.69607A>G (p.Asn23203Asp)
c.69406A>G (p.Asn23136Asp)
c.69031A>G (p.Asn23011Asp)
c.96226A>G (p.Asn32076Asp)
c.91303A>G (p.Asn30435Asp)
n.446+20282T>C
n.2043+1557T>C
c.95323A>G (p.Asn31775Asp)
c.69217A>G (p.Asn23073Asp)
c.69076A>G (p.Asn23026Asp)
c.95119A>G (p.Asn31707Asp)
c.90517A>G (p.Asn30173Asp)
c.90514A>G (p.Asn30172Asp)
c.87556A>G (p.Asn29186Asp)
c.69172A>G (p.Asn23058Asp)
c.90667A>G (p.Asn30223Asp)
c.90664A>G (p.Asn30222Asp)
c.90097A>G (p.Asn30033Asp)
c.87439A>G (p.Asn29147Asp)
c.87358A>G (p.Asn29120Asp)
c.69121A>G (p.Asn23041Asp)
c.58975A>G (p.Asn19659Asp)
2g.178543918T>GCA349451127TTN,TTN-AS1c.88522A>C (p.Asn29508His)
c.69607A>C (p.Asn23203His)
c.69406A>C (p.Asn23136His)
c.69031A>C (p.Asn23011His)
c.96226A>C (p.Asn32076His)
c.91303A>C (p.Asn30435His)
n.446+20282T>G
n.2043+1557T>G
c.95323A>C (p.Asn31775His)
c.69217A>C (p.Asn23073His)
c.69076A>C (p.Asn23026His)
c.95119A>C (p.Asn31707His)
c.90517A>C (p.Asn30173His)
c.90514A>C (p.Asn30172His)
c.87556A>C (p.Asn29186His)
c.69172A>C (p.Asn23058His)
c.90667A>C (p.Asn30223His)
c.90664A>C (p.Asn30222His)
c.90097A>C (p.Asn30033His)
c.87439A>C (p.Asn29147His)
c.87358A>C (p.Asn29120His)
c.69121A>C (p.Asn23041His)
c.58975A>C (p.Asn19659His)
2g.178543919A=CA1310521190TTN,TTN-AS1c.88521T= (p.Val29507=)
c.69606T= (p.Val23202=)
c.69405T= (p.Val23135=)
c.69030T= (p.Val23010=)
c.96225T= (p.Val32075=)
c.91302T= (p.Val30434=)
n.446+20283A=
n.2043+1558A=
c.95322T= (p.Val31774=)
c.69216T= (p.Val23072=)
c.69075T= (p.Val23025=)
c.95118T= (p.Val31706=)
c.90516T= (p.Val30172=)
c.90513T= (p.Val30171=)
c.87555T= (p.Val29185=)
c.69171T= (p.Val23057=)
c.90666T= (p.Val30222=)
c.90663T= (p.Val30221=)
c.90096T= (p.Val30032=)
c.87438T= (p.Val29146=)
c.87357T= (p.Val29119=)
c.69120T= (p.Val23040=)
c.58974T= (p.Val19658=)
2g.178543919A>CCA430241650TTN,TTN-AS1c.88521T>G (p.Val29507=)
c.69606T>G (p.Val23202=)
c.69405T>G (p.Val23135=)
c.69030T>G (p.Val23010=)
c.96225T>G (p.Val32075=)
c.91302T>G (p.Val30434=)
n.446+20283A>C
n.2043+1558A>C
c.95322T>G (p.Val31774=)
c.69216T>G (p.Val23072=)
c.69075T>G (p.Val23025=)
c.95118T>G (p.Val31706=)
c.90516T>G (p.Val30172=)
c.90513T>G (p.Val30171=)
c.87555T>G (p.Val29185=)
c.69171T>G (p.Val23057=)
c.90666T>G (p.Val30222=)
c.90663T>G (p.Val30221=)
c.90096T>G (p.Val30032=)
c.87438T>G (p.Val29146=)
c.87357T>G (p.Val29119=)
c.69120T>G (p.Val23040=)
c.58974T>G (p.Val19658=)
2g.178543919A>GCA430241652TTN,TTN-AS1c.88521T>C (p.Val29507=)
c.69606T>C (p.Val23202=)
c.69405T>C (p.Val23135=)
c.69030T>C (p.Val23010=)
c.96225T>C (p.Val32075=)
c.91302T>C (p.Val30434=)
n.446+20283A>G
n.2043+1558A>G
c.95322T>C (p.Val31774=)
c.69216T>C (p.Val23072=)
c.69075T>C (p.Val23025=)
c.95118T>C (p.Val31706=)
c.90516T>C (p.Val30172=)
c.90513T>C (p.Val30171=)
c.87555T>C (p.Val29185=)
c.69171T>C (p.Val23057=)
c.90666T>C (p.Val30222=)
c.90663T>C (p.Val30221=)
c.90096T>C (p.Val30032=)
c.87438T>C (p.Val29146=)
c.87357T>C (p.Val29119=)
c.69120T>C (p.Val23040=)
c.58974T>C (p.Val19658=)
 gnomAD v4
2g.178543919A>TCA309514TTN,TTN-AS1c.88521T>A (p.Val29507=)
c.69606T>A (p.Val23202=)
c.69405T>A (p.Val23135=)
c.69030T>A (p.Val23010=)
c.96225T>A (p.Val32075=)
c.91302T>A (p.Val30434=)
n.446+20283A>T
n.2043+1558A>T
c.95322T>A (p.Val31774=)
c.69216T>A (p.Val23072=)
c.69075T>A (p.Val23025=)
c.95118T>A (p.Val31706=)
c.90516T>A (p.Val30172=)
c.90513T>A (p.Val30171=)
c.87555T>A (p.Val29185=)
c.69171T>A (p.Val23057=)
c.90666T>A (p.Val30222=)
c.90663T>A (p.Val30221=)
c.90096T>A (p.Val30032=)
c.87438T>A (p.Val29146=)
c.87357T>A (p.Val29119=)
c.69120T>A (p.Val23040=)
c.58974T>A (p.Val19658=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543920A>CCA349451145TTN,TTN-AS1c.88520T>G (p.Val29507Gly)
c.69605T>G (p.Val23202Gly)
c.69404T>G (p.Val23135Gly)
c.69029T>G (p.Val23010Gly)
c.96224T>G (p.Val32075Gly)
c.91301T>G (p.Val30434Gly)
n.446+20284A>C
n.2043+1559A>C
c.95321T>G (p.Val31774Gly)
c.69215T>G (p.Val23072Gly)
c.69074T>G (p.Val23025Gly)
c.95117T>G (p.Val31706Gly)
c.90515T>G (p.Val30172Gly)
c.90512T>G (p.Val30171Gly)
c.87554T>G (p.Val29185Gly)
c.69170T>G (p.Val23057Gly)
c.90665T>G (p.Val30222Gly)
c.90662T>G (p.Val30221Gly)
c.90095T>G (p.Val30032Gly)
c.87437T>G (p.Val29146Gly)
c.87356T>G (p.Val29119Gly)
c.69119T>G (p.Val23040Gly)
c.58973T>G (p.Val19658Gly)
2g.178543920A>GCA349451144TTN,TTN-AS1c.88520T>C (p.Val29507Ala)
c.69605T>C (p.Val23202Ala)
c.69404T>C (p.Val23135Ala)
c.69029T>C (p.Val23010Ala)
c.96224T>C (p.Val32075Ala)
c.91301T>C (p.Val30434Ala)
n.446+20284A>G
n.2043+1559A>G
c.95321T>C (p.Val31774Ala)
c.69215T>C (p.Val23072Ala)
c.69074T>C (p.Val23025Ala)
c.95117T>C (p.Val31706Ala)
c.90515T>C (p.Val30172Ala)
c.90512T>C (p.Val30171Ala)
c.87554T>C (p.Val29185Ala)
c.69170T>C (p.Val23057Ala)
c.90665T>C (p.Val30222Ala)
c.90662T>C (p.Val30221Ala)
c.90095T>C (p.Val30032Ala)
c.87437T>C (p.Val29146Ala)
c.87356T>C (p.Val29119Ala)
c.69119T>C (p.Val23040Ala)
c.58973T>C (p.Val19658Ala)
 gnomAD v4
2g.178543920A>TCA349451147TTN,TTN-AS1c.88520T>A (p.Val29507Asp)
c.69605T>A (p.Val23202Asp)
c.69404T>A (p.Val23135Asp)
c.69029T>A (p.Val23010Asp)
c.96224T>A (p.Val32075Asp)
c.91301T>A (p.Val30434Asp)
n.446+20284A>T
n.2043+1559A>T
c.95321T>A (p.Val31774Asp)
c.69215T>A (p.Val23072Asp)
c.69074T>A (p.Val23025Asp)
c.95117T>A (p.Val31706Asp)
c.90515T>A (p.Val30172Asp)
c.90512T>A (p.Val30171Asp)
c.87554T>A (p.Val29185Asp)
c.69170T>A (p.Val23057Asp)
c.90665T>A (p.Val30222Asp)
c.90662T>A (p.Val30221Asp)
c.90095T>A (p.Val30032Asp)
c.87437T>A (p.Val29146Asp)
c.87356T>A (p.Val29119Asp)
c.69119T>A (p.Val23040Asp)
c.58973T>A (p.Val19658Asp)
2g.178543921C>ACA349451153TTN,TTN-AS1c.88519G>T (p.Val29507Phe)
c.69604G>T (p.Val23202Phe)
c.69403G>T (p.Val23135Phe)
c.69028G>T (p.Val23010Phe)
c.96223G>T (p.Val32075Phe)
c.91300G>T (p.Val30434Phe)
n.446+20285C>A
n.2043+1560C>A
c.95320G>T (p.Val31774Phe)
c.69214G>T (p.Val23072Phe)
c.69073G>T (p.Val23025Phe)
c.95116G>T (p.Val31706Phe)
c.90514G>T (p.Val30172Phe)
c.90511G>T (p.Val30171Phe)
c.87553G>T (p.Val29185Phe)
c.69169G>T (p.Val23057Phe)
c.90664G>T (p.Val30222Phe)
c.90661G>T (p.Val30221Phe)
c.90094G>T (p.Val30032Phe)
c.87436G>T (p.Val29146Phe)
c.87355G>T (p.Val29119Phe)
c.69118G>T (p.Val23040Phe)
c.58972G>T (p.Val19658Phe)
2g.178543921C>GCA349451161TTN,TTN-AS1c.88519G>C (p.Val29507Leu)
c.69604G>C (p.Val23202Leu)
c.69403G>C (p.Val23135Leu)
c.69028G>C (p.Val23010Leu)
c.96223G>C (p.Val32075Leu)
c.91300G>C (p.Val30434Leu)
n.446+20285C>G
n.2043+1560C>G
c.95320G>C (p.Val31774Leu)
c.69214G>C (p.Val23072Leu)
c.69073G>C (p.Val23025Leu)
c.95116G>C (p.Val31706Leu)
c.90514G>C (p.Val30172Leu)
c.90511G>C (p.Val30171Leu)
c.87553G>C (p.Val29185Leu)
c.69169G>C (p.Val23057Leu)
c.90664G>C (p.Val30222Leu)
c.90661G>C (p.Val30221Leu)
c.90094G>C (p.Val30032Leu)
c.87436G>C (p.Val29146Leu)
c.87355G>C (p.Val29119Leu)
c.69118G>C (p.Val23040Leu)
c.58972G>C (p.Val19658Leu)
2g.178543921C>TCA349451163TTN,TTN-AS1c.88519G>A (p.Val29507Ile)
c.69604G>A (p.Val23202Ile)
c.69403G>A (p.Val23135Ile)
c.69028G>A (p.Val23010Ile)
c.96223G>A (p.Val32075Ile)
c.91300G>A (p.Val30434Ile)
n.446+20285C>T
n.2043+1560C>T
c.95320G>A (p.Val31774Ile)
c.69214G>A (p.Val23072Ile)
c.69073G>A (p.Val23025Ile)
c.95116G>A (p.Val31706Ile)
c.90514G>A (p.Val30172Ile)
c.90511G>A (p.Val30171Ile)
c.87553G>A (p.Val29185Ile)
c.69169G>A (p.Val23057Ile)
c.90664G>A (p.Val30222Ile)
c.90661G>A (p.Val30221Ile)
c.90094G>A (p.Val30032Ile)
c.87436G>A (p.Val29146Ile)
c.87355G>A (p.Val29119Ile)
c.69118G>A (p.Val23040Ile)
c.58972G>A (p.Val19658Ile)
2g.178543922T>ACA349451164TTN,TTN-AS1c.88518A>T (p.Lys29506Asn)
c.69603A>T (p.Lys23201Asn)
c.69402A>T (p.Lys23134Asn)
c.69027A>T (p.Lys23009Asn)
c.96222A>T (p.Lys32074Asn)
c.91299A>T (p.Lys30433Asn)
n.446+20286T>A
n.2043+1561T>A
c.95319A>T (p.Lys31773Asn)
c.69213A>T (p.Lys23071Asn)
c.69072A>T (p.Lys23024Asn)
c.95115A>T (p.Lys31705Asn)
c.90513A>T (p.Lys30171Asn)
c.90510A>T (p.Lys30170Asn)
c.87552A>T (p.Lys29184Asn)
c.69168A>T (p.Lys23056Asn)
c.90663A>T (p.Lys30221Asn)
c.90660A>T (p.Lys30220Asn)
c.90093A>T (p.Lys30031Asn)
c.87435A>T (p.Lys29145Asn)
c.87354A>T (p.Lys29118Asn)
c.69117A>T (p.Lys23039Asn)
c.58971A>T (p.Lys19657Asn)
2g.178543922T>CCA430241655TTN,TTN-AS1c.88518A>G (p.Lys29506=)
c.69603A>G (p.Lys23201=)
c.69402A>G (p.Lys23134=)
c.69027A>G (p.Lys23009=)
c.96222A>G (p.Lys32074=)
c.91299A>G (p.Lys30433=)
n.446+20286T>C
n.2043+1561T>C
c.95319A>G (p.Lys31773=)
c.69213A>G (p.Lys23071=)
c.69072A>G (p.Lys23024=)
c.95115A>G (p.Lys31705=)
c.90513A>G (p.Lys30171=)
c.90510A>G (p.Lys30170=)
c.87552A>G (p.Lys29184=)
c.69168A>G (p.Lys23056=)
c.90663A>G (p.Lys30221=)
c.90660A>G (p.Lys30220=)
c.90093A>G (p.Lys30031=)
c.87435A>G (p.Lys29145=)
c.87354A>G (p.Lys29118=)
c.69117A>G (p.Lys23039=)
c.58971A>G (p.Lys19657=)
2g.178543922T>GCA349451179TTN,TTN-AS1c.88518A>C (p.Lys29506Asn)
c.69603A>C (p.Lys23201Asn)
c.69402A>C (p.Lys23134Asn)
c.69027A>C (p.Lys23009Asn)
c.96222A>C (p.Lys32074Asn)
c.91299A>C (p.Lys30433Asn)
n.446+20286T>G
n.2043+1561T>G
c.95319A>C (p.Lys31773Asn)
c.69213A>C (p.Lys23071Asn)
c.69072A>C (p.Lys23024Asn)
c.95115A>C (p.Lys31705Asn)
c.90513A>C (p.Lys30171Asn)
c.90510A>C (p.Lys30170Asn)
c.87552A>C (p.Lys29184Asn)
c.69168A>C (p.Lys23056Asn)
c.90663A>C (p.Lys30221Asn)
c.90660A>C (p.Lys30220Asn)
c.90093A>C (p.Lys30031Asn)
c.87435A>C (p.Lys29145Asn)
c.87354A>C (p.Lys29118Asn)
c.69117A>C (p.Lys23039Asn)
c.58971A>C (p.Lys19657Asn)
2g.178543923_178543924delCA2662123590TTN,TTN-AS1c.88517_88518del (p.Lys29506SerfsTer2)
c.69602_69603del (p.Lys23201SerfsTer2)
c.69401_69402del (p.Lys23134SerfsTer2)
c.69026_69027del (p.Lys23009SerfsTer2)
c.96221_96222del (p.Lys32074SerfsTer2)
c.91298_91299del (p.Lys30433SerfsTer2)
n.446+20287_446+20288del
n.2043+1562_2043+1563del
c.95318_95319del (p.Lys31773SerfsTer2)
c.69212_69213del (p.Lys23071SerfsTer2)
c.69071_69072del (p.Lys23024SerfsTer2)
c.95114_95115del (p.Lys31705SerfsTer2)
c.90512_90513del (p.Lys30171SerfsTer2)
c.90509_90510del (p.Lys30170SerfsTer2)
c.87551_87552del (p.Lys29184SerfsTer2)
c.69167_69168del (p.Lys23056SerfsTer2)
c.90662_90663del (p.Lys30221SerfsTer2)
c.90659_90660del (p.Lys30220SerfsTer2)
c.90092_90093del (p.Lys30031SerfsTer2)
c.87434_87435del (p.Lys29145SerfsTer2)
c.87353_87354del (p.Lys29118SerfsTer2)
c.69116_69117del (p.Lys23039SerfsTer2)
c.58970_58971del (p.Lys19657SerfsTer2)
 gnomAD v4
2g.178543923T>ACA349451185TTN,TTN-AS1c.88517A>T (p.Lys29506Ile)
c.69602A>T (p.Lys23201Ile)
c.69401A>T (p.Lys23134Ile)
c.69026A>T (p.Lys23009Ile)
c.96221A>T (p.Lys32074Ile)
c.91298A>T (p.Lys30433Ile)
n.446+20287T>A
n.2043+1562T>A
c.95318A>T (p.Lys31773Ile)
c.69212A>T (p.Lys23071Ile)
c.69071A>T (p.Lys23024Ile)
c.95114A>T (p.Lys31705Ile)
c.90512A>T (p.Lys30171Ile)
c.90509A>T (p.Lys30170Ile)
c.87551A>T (p.Lys29184Ile)
c.69167A>T (p.Lys23056Ile)
c.90662A>T (p.Lys30221Ile)
c.90659A>T (p.Lys30220Ile)
c.90092A>T (p.Lys30031Ile)
c.87434A>T (p.Lys29145Ile)
c.87353A>T (p.Lys29118Ile)
c.69116A>T (p.Lys23039Ile)
c.58970A>T (p.Lys19657Ile)
2g.178543923T>CCA349451191TTN,TTN-AS1c.88517A>G (p.Lys29506Arg)
c.69602A>G (p.Lys23201Arg)
c.69401A>G (p.Lys23134Arg)
c.69026A>G (p.Lys23009Arg)
c.96221A>G (p.Lys32074Arg)
c.91298A>G (p.Lys30433Arg)
n.446+20287T>C
n.2043+1562T>C
c.95318A>G (p.Lys31773Arg)
c.69212A>G (p.Lys23071Arg)
c.69071A>G (p.Lys23024Arg)
c.95114A>G (p.Lys31705Arg)
c.90512A>G (p.Lys30171Arg)
c.90509A>G (p.Lys30170Arg)
c.87551A>G (p.Lys29184Arg)
c.69167A>G (p.Lys23056Arg)
c.90662A>G (p.Lys30221Arg)
c.90659A>G (p.Lys30220Arg)
c.90092A>G (p.Lys30031Arg)
c.87434A>G (p.Lys29145Arg)
c.87353A>G (p.Lys29118Arg)
c.69116A>G (p.Lys23039Arg)
c.58970A>G (p.Lys19657Arg)
 gnomAD v4
2g.178543923T>GCA349451195TTN,TTN-AS1c.88517A>C (p.Lys29506Thr)
c.69602A>C (p.Lys23201Thr)
c.69401A>C (p.Lys23134Thr)
c.69026A>C (p.Lys23009Thr)
c.96221A>C (p.Lys32074Thr)
c.91298A>C (p.Lys30433Thr)
n.446+20287T>G
n.2043+1562T>G
c.95318A>C (p.Lys31773Thr)
c.69212A>C (p.Lys23071Thr)
c.69071A>C (p.Lys23024Thr)
c.95114A>C (p.Lys31705Thr)
c.90512A>C (p.Lys30171Thr)
c.90509A>C (p.Lys30170Thr)
c.87551A>C (p.Lys29184Thr)
c.69167A>C (p.Lys23056Thr)
c.90662A>C (p.Lys30221Thr)
c.90659A>C (p.Lys30220Thr)
c.90092A>C (p.Lys30031Thr)
c.87434A>C (p.Lys29145Thr)
c.87353A>C (p.Lys29118Thr)
c.69116A>C (p.Lys23039Thr)
c.58970A>C (p.Lys19657Thr)
2g.178543924T>ACA349451199TTN,TTN-AS1c.88516A>T (p.Lys29506Ter)
c.69601A>T (p.Lys23201Ter)
c.69400A>T (p.Lys23134Ter)
c.69025A>T (p.Lys23009Ter)
c.96220A>T (p.Lys32074Ter)
c.91297A>T (p.Lys30433Ter)
n.446+20288T>A
n.2043+1563T>A
c.95317A>T (p.Lys31773Ter)
c.69211A>T (p.Lys23071Ter)
c.69070A>T (p.Lys23024Ter)
c.95113A>T (p.Lys31705Ter)
c.90511A>T (p.Lys30171Ter)
c.90508A>T (p.Lys30170Ter)
c.87550A>T (p.Lys29184Ter)
c.69166A>T (p.Lys23056Ter)
c.90661A>T (p.Lys30221Ter)
c.90658A>T (p.Lys30220Ter)
c.90091A>T (p.Lys30031Ter)
c.87433A>T (p.Lys29145Ter)
c.87352A>T (p.Lys29118Ter)
c.69115A>T (p.Lys23039Ter)
c.58969A>T (p.Lys19657Ter)
2g.178543924T>CCA349451200TTN,TTN-AS1c.88516A>G (p.Lys29506Glu)
c.69601A>G (p.Lys23201Glu)
c.69400A>G (p.Lys23134Glu)
c.69025A>G (p.Lys23009Glu)
c.96220A>G (p.Lys32074Glu)
c.91297A>G (p.Lys30433Glu)
n.446+20288T>C
n.2043+1563T>C
c.95317A>G (p.Lys31773Glu)
c.69211A>G (p.Lys23071Glu)
c.69070A>G (p.Lys23024Glu)
c.95113A>G (p.Lys31705Glu)
c.90511A>G (p.Lys30171Glu)
c.90508A>G (p.Lys30170Glu)
c.87550A>G (p.Lys29184Glu)
c.69166A>G (p.Lys23056Glu)
c.90661A>G (p.Lys30221Glu)
c.90658A>G (p.Lys30220Glu)
c.90091A>G (p.Lys30031Glu)
c.87433A>G (p.Lys29145Glu)
c.87352A>G (p.Lys29118Glu)
c.69115A>G (p.Lys23039Glu)
c.58969A>G (p.Lys19657Glu)
2g.178543924T>GCA349451202TTN,TTN-AS1c.88516A>C (p.Lys29506Gln)
c.69601A>C (p.Lys23201Gln)
c.69400A>C (p.Lys23134Gln)
c.69025A>C (p.Lys23009Gln)
c.96220A>C (p.Lys32074Gln)
c.91297A>C (p.Lys30433Gln)
n.446+20288T>G
n.2043+1563T>G
c.95317A>C (p.Lys31773Gln)
c.69211A>C (p.Lys23071Gln)
c.69070A>C (p.Lys23024Gln)
c.95113A>C (p.Lys31705Gln)
c.90511A>C (p.Lys30171Gln)
c.90508A>C (p.Lys30170Gln)
c.87550A>C (p.Lys29184Gln)
c.69166A>C (p.Lys23056Gln)
c.90661A>C (p.Lys30221Gln)
c.90658A>C (p.Lys30220Gln)
c.90091A>C (p.Lys30031Gln)
c.87433A>C (p.Lys29145Gln)
c.87352A>C (p.Lys29118Gln)
c.69115A>C (p.Lys23039Gln)
c.58969A>C (p.Lys19657Gln)
2g.178543925G>ACA430241670TTN,TTN-AS1c.88515C>T (p.Asp29505=)
c.69600C>T (p.Asp23200=)
c.69399C>T (p.Asp23133=)
c.69024C>T (p.Asp23008=)
c.96219C>T (p.Asp32073=)
c.91296C>T (p.Asp30432=)
n.446+20289G>A
n.2043+1564G>A
c.95316C>T (p.Asp31772=)
c.69210C>T (p.Asp23070=)
c.69069C>T (p.Asp23023=)
c.95112C>T (p.Asp31704=)
c.90510C>T (p.Asp30170=)
c.90507C>T (p.Asp30169=)
c.87549C>T (p.Asp29183=)
c.69165C>T (p.Asp23055=)
c.90660C>T (p.Asp30220=)
c.90657C>T (p.Asp30219=)
c.90090C>T (p.Asp30030=)
c.87432C>T (p.Asp29144=)
c.87351C>T (p.Asp29117=)
c.69114C>T (p.Asp23038=)
c.58968C>T (p.Asp19656=)
2g.178543925G>CCA349451204TTN,TTN-AS1c.88515C>G (p.Asp29505Glu)
c.69600C>G (p.Asp23200Glu)
c.69399C>G (p.Asp23133Glu)
c.69024C>G (p.Asp23008Glu)
c.96219C>G (p.Asp32073Glu)
c.91296C>G (p.Asp30432Glu)
n.446+20289G>C
n.2043+1564G>C
c.95316C>G (p.Asp31772Glu)
c.69210C>G (p.Asp23070Glu)
c.69069C>G (p.Asp23023Glu)
c.95112C>G (p.Asp31704Glu)
c.90510C>G (p.Asp30170Glu)
c.90507C>G (p.Asp30169Glu)
c.87549C>G (p.Asp29183Glu)
c.69165C>G (p.Asp23055Glu)
c.90660C>G (p.Asp30220Glu)
c.90657C>G (p.Asp30219Glu)
c.90090C>G (p.Asp30030Glu)
c.87432C>G (p.Asp29144Glu)
c.87351C>G (p.Asp29117Glu)
c.69114C>G (p.Asp23038Glu)
c.58968C>G (p.Asp19656Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.178543925G=CA1310521192TTN,TTN-AS1c.88515C= (p.Asp29505=)
c.69600C= (p.Asp23200=)
c.69399C= (p.Asp23133=)
c.69024C= (p.Asp23008=)
c.96219C= (p.Asp32073=)
c.91296C= (p.Asp30432=)
n.446+20289G=
n.2043+1564G=
c.95316C= (p.Asp31772=)
c.69210C= (p.Asp23070=)
c.69069C= (p.Asp23023=)
c.95112C= (p.Asp31704=)
c.90510C= (p.Asp30170=)
c.90507C= (p.Asp30169=)
c.87549C= (p.Asp29183=)
c.69165C= (p.Asp23055=)
c.90660C= (p.Asp30220=)
c.90657C= (p.Asp30219=)
c.90090C= (p.Asp30030=)
c.87432C= (p.Asp29144=)
c.87351C= (p.Asp29117=)
c.69114C= (p.Asp23038=)
c.58968C= (p.Asp19656=)
2g.178543925G>TCA349451205TTN,TTN-AS1c.88515C>A (p.Asp29505Glu)
c.69600C>A (p.Asp23200Glu)
c.69399C>A (p.Asp23133Glu)
c.69024C>A (p.Asp23008Glu)
c.96219C>A (p.Asp32073Glu)
c.91296C>A (p.Asp30432Glu)
n.446+20289G>T
n.2043+1564G>T
c.95316C>A (p.Asp31772Glu)
c.69210C>A (p.Asp23070Glu)
c.69069C>A (p.Asp23023Glu)
c.95112C>A (p.Asp31704Glu)
c.90510C>A (p.Asp30170Glu)
c.90507C>A (p.Asp30169Glu)
c.87549C>A (p.Asp29183Glu)
c.69165C>A (p.Asp23055Glu)
c.90660C>A (p.Asp30220Glu)
c.90657C>A (p.Asp30219Glu)
c.90090C>A (p.Asp30030Glu)
c.87432C>A (p.Asp29144Glu)
c.87351C>A (p.Asp29117Glu)
c.69114C>A (p.Asp23038Glu)
c.58968C>A (p.Asp19656Glu)
 gnomAD v4
2g.178543926T>ACA349451214TTN,TTN-AS1c.88514A>T (p.Asp29505Val)
c.69599A>T (p.Asp23200Val)
c.69398A>T (p.Asp23133Val)
c.69023A>T (p.Asp23008Val)
c.96218A>T (p.Asp32073Val)
c.91295A>T (p.Asp30432Val)
n.446+20290T>A
n.2043+1565T>A
c.95315A>T (p.Asp31772Val)
c.69209A>T (p.Asp23070Val)
c.69068A>T (p.Asp23023Val)
c.95111A>T (p.Asp31704Val)
c.90509A>T (p.Asp30170Val)
c.90506A>T (p.Asp30169Val)
c.87548A>T (p.Asp29183Val)
c.69164A>T (p.Asp23055Val)
c.90659A>T (p.Asp30220Val)
c.90656A>T (p.Asp30219Val)
c.90089A>T (p.Asp30030Val)
c.87431A>T (p.Asp29144Val)
c.87350A>T (p.Asp29117Val)
c.69113A>T (p.Asp23038Val)
c.58967A>T (p.Asp19656Val)
2g.178543926T>CCA349451210TTN,TTN-AS1c.88514A>G (p.Asp29505Gly)
c.69599A>G (p.Asp23200Gly)
c.69398A>G (p.Asp23133Gly)
c.69023A>G (p.Asp23008Gly)
c.96218A>G (p.Asp32073Gly)
c.91295A>G (p.Asp30432Gly)
n.446+20290T>C
n.2043+1565T>C
c.95315A>G (p.Asp31772Gly)
c.69209A>G (p.Asp23070Gly)
c.69068A>G (p.Asp23023Gly)
c.95111A>G (p.Asp31704Gly)
c.90509A>G (p.Asp30170Gly)
c.90506A>G (p.Asp30169Gly)
c.87548A>G (p.Asp29183Gly)
c.69164A>G (p.Asp23055Gly)
c.90659A>G (p.Asp30220Gly)
c.90656A>G (p.Asp30219Gly)
c.90089A>G (p.Asp30030Gly)
c.87431A>G (p.Asp29144Gly)
c.87350A>G (p.Asp29117Gly)
c.69113A>G (p.Asp23038Gly)
c.58967A>G (p.Asp19656Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178543926T>GCA349451207TTN,TTN-AS1c.88514A>C (p.Asp29505Ala)
c.69599A>C (p.Asp23200Ala)
c.69398A>C (p.Asp23133Ala)
c.69023A>C (p.Asp23008Ala)
c.96218A>C (p.Asp32073Ala)
c.91295A>C (p.Asp30432Ala)
n.446+20290T>G
n.2043+1565T>G
c.95315A>C (p.Asp31772Ala)
c.69209A>C (p.Asp23070Ala)
c.69068A>C (p.Asp23023Ala)
c.95111A>C (p.Asp31704Ala)
c.90509A>C (p.Asp30170Ala)
c.90506A>C (p.Asp30169Ala)
c.87548A>C (p.Asp29183Ala)
c.69164A>C (p.Asp23055Ala)
c.90659A>C (p.Asp30220Ala)
c.90656A>C (p.Asp30219Ala)
c.90089A>C (p.Asp30030Ala)
c.87431A>C (p.Asp29144Ala)
c.87350A>C (p.Asp29117Ala)
c.69113A>C (p.Asp23038Ala)
c.58967A>C (p.Asp19656Ala)
2g.178543926T=CA1310521194TTN,TTN-AS1c.88514A= (p.Asp29505=)
c.69599A= (p.Asp23200=)
c.69398A= (p.Asp23133=)
c.69023A= (p.Asp23008=)
c.96218A= (p.Asp32073=)
c.91295A= (p.Asp30432=)
n.446+20290T=
n.2043+1565T=
c.95315A= (p.Asp31772=)
c.69209A= (p.Asp23070=)
c.69068A= (p.Asp23023=)
c.95111A= (p.Asp31704=)
c.90509A= (p.Asp30170=)
c.90506A= (p.Asp30169=)
c.87548A= (p.Asp29183=)
c.69164A= (p.Asp23055=)
c.90659A= (p.Asp30220=)
c.90656A= (p.Asp30219=)
c.90089A= (p.Asp30030=)
c.87431A= (p.Asp29144=)
c.87350A= (p.Asp29117=)
c.69113A= (p.Asp23038=)
c.58967A= (p.Asp19656=)
2g.178543927C>ACA349451225TTN,TTN-AS1c.88513G>T (p.Asp29505Tyr)
c.69598G>T (p.Asp23200Tyr)
c.69397G>T (p.Asp23133Tyr)
c.69022G>T (p.Asp23008Tyr)
c.96217G>T (p.Asp32073Tyr)
c.91294G>T (p.Asp30432Tyr)
n.446+20291C>A
n.2043+1566C>A
c.95314G>T (p.Asp31772Tyr)
c.69208G>T (p.Asp23070Tyr)
c.69067G>T (p.Asp23023Tyr)
c.95110G>T (p.Asp31704Tyr)
c.90508G>T (p.Asp30170Tyr)
c.90505G>T (p.Asp30169Tyr)
c.87547G>T (p.Asp29183Tyr)
c.69163G>T (p.Asp23055Tyr)
c.90658G>T (p.Asp30220Tyr)
c.90655G>T (p.Asp30219Tyr)
c.90088G>T (p.Asp30030Tyr)
c.87430G>T (p.Asp29144Tyr)
c.87349G>T (p.Asp29117Tyr)
c.69112G>T (p.Asp23038Tyr)
c.58966G>T (p.Asp19656Tyr)
2g.178543927C>GCA349451227TTN,TTN-AS1c.88513G>C (p.Asp29505His)
c.69598G>C (p.Asp23200His)
c.69397G>C (p.Asp23133His)
c.69022G>C (p.Asp23008His)
c.96217G>C (p.Asp32073His)
c.91294G>C (p.Asp30432His)
n.446+20291C>G
n.2043+1566C>G
c.95314G>C (p.Asp31772His)
c.69208G>C (p.Asp23070His)
c.69067G>C (p.Asp23023His)
c.95110G>C (p.Asp31704His)
c.90508G>C (p.Asp30170His)
c.90505G>C (p.Asp30169His)
c.87547G>C (p.Asp29183His)
c.69163G>C (p.Asp23055His)
c.90658G>C (p.Asp30220His)
c.90655G>C (p.Asp30219His)
c.90088G>C (p.Asp30030His)
c.87430G>C (p.Asp29144His)
c.87349G>C (p.Asp29117His)
c.69112G>C (p.Asp23038His)
c.58966G>C (p.Asp19656His)
2g.178543927C>TCA349451232TTN,TTN-AS1c.88513G>A (p.Asp29505Asn)
c.69598G>A (p.Asp23200Asn)
c.69397G>A (p.Asp23133Asn)
c.69022G>A (p.Asp23008Asn)
c.96217G>A (p.Asp32073Asn)
c.91294G>A (p.Asp30432Asn)
n.446+20291C>T
n.2043+1566C>T
c.95314G>A (p.Asp31772Asn)
c.69208G>A (p.Asp23070Asn)
c.69067G>A (p.Asp23023Asn)
c.95110G>A (p.Asp31704Asn)
c.90508G>A (p.Asp30170Asn)
c.90505G>A (p.Asp30169Asn)
c.87547G>A (p.Asp29183Asn)
c.69163G>A (p.Asp23055Asn)
c.90658G>A (p.Asp30220Asn)
c.90655G>A (p.Asp30219Asn)
c.90088G>A (p.Asp30030Asn)
c.87430G>A (p.Asp29144Asn)
c.87349G>A (p.Asp29117Asn)
c.69112G>A (p.Asp23038Asn)
c.58966G>A (p.Asp19656Asn)
2g.178543928C>ACA430241688TTN,TTN-AS1c.88512G>T (p.Val29504=)
c.69597G>T (p.Val23199=)
c.69396G>T (p.Val23132=)
c.69021G>T (p.Val23007=)
c.96216G>T (p.Val32072=)
c.91293G>T (p.Val30431=)
n.446+20292C>A
n.2043+1567C>A
c.95313G>T (p.Val31771=)
c.69207G>T (p.Val23069=)
c.69066G>T (p.Val23022=)
c.95109G>T (p.Val31703=)
c.90507G>T (p.Val30169=)
c.90504G>T (p.Val30168=)
c.87546G>T (p.Val29182=)
c.69162G>T (p.Val23054=)
c.90657G>T (p.Val30219=)
c.90654G>T (p.Val30218=)
c.90087G>T (p.Val30029=)
c.87429G>T (p.Val29143=)
c.87348G>T (p.Val29116=)
c.69111G>T (p.Val23037=)
c.58965G>T (p.Val19655=)
2g.178543928C>GCA430241686TTN,TTN-AS1c.88512G>C (p.Val29504=)
c.69597G>C (p.Val23199=)
c.69396G>C (p.Val23132=)
c.69021G>C (p.Val23007=)
c.96216G>C (p.Val32072=)
c.91293G>C (p.Val30431=)
n.446+20292C>G
n.2043+1567C>G
c.95313G>C (p.Val31771=)
c.69207G>C (p.Val23069=)
c.69066G>C (p.Val23022=)
c.95109G>C (p.Val31703=)
c.90507G>C (p.Val30169=)
c.90504G>C (p.Val30168=)
c.87546G>C (p.Val29182=)
c.69162G>C (p.Val23054=)
c.90657G>C (p.Val30219=)
c.90654G>C (p.Val30218=)
c.90087G>C (p.Val30029=)
c.87429G>C (p.Val29143=)
c.87348G>C (p.Val29116=)
c.69111G>C (p.Val23037=)
c.58965G>C (p.Val19655=)
2g.178543928C>TCA430241684TTN,TTN-AS1c.88512G>A (p.Val29504=)
c.69597G>A (p.Val23199=)
c.69396G>A (p.Val23132=)
c.69021G>A (p.Val23007=)
c.96216G>A (p.Val32072=)
c.91293G>A (p.Val30431=)
n.446+20292C>T
n.2043+1567C>T
c.95313G>A (p.Val31771=)
c.69207G>A (p.Val23069=)
c.69066G>A (p.Val23022=)
c.95109G>A (p.Val31703=)
c.90507G>A (p.Val30169=)
c.90504G>A (p.Val30168=)
c.87546G>A (p.Val29182=)
c.69162G>A (p.Val23054=)
c.90657G>A (p.Val30219=)
c.90654G>A (p.Val30218=)
c.90087G>A (p.Val30029=)
c.87429G>A (p.Val29143=)
c.87348G>A (p.Val29116=)
c.69111G>A (p.Val23037=)
c.58965G>A (p.Val19655=)
2g.178543929A=CA1310521196TTN,TTN-AS1c.88511T= (p.Val29504=)
c.69596T= (p.Val23199=)
c.69395T= (p.Val23132=)
c.69020T= (p.Val23007=)
c.96215T= (p.Val32072=)
c.91292T= (p.Val30431=)
n.446+20293A=
n.2043+1568A=
c.95312T= (p.Val31771=)
c.69206T= (p.Val23069=)
c.69065T= (p.Val23022=)
c.95108T= (p.Val31703=)
c.90506T= (p.Val30169=)
c.90503T= (p.Val30168=)
c.87545T= (p.Val29182=)
c.69161T= (p.Val23054=)
c.90656T= (p.Val30219=)
c.90653T= (p.Val30218=)
c.90086T= (p.Val30029=)
c.87428T= (p.Val29143=)
c.87347T= (p.Val29116=)
c.69110T= (p.Val23037=)
c.58964T= (p.Val19655=)
2g.178543929A>CCA349451237TTN,TTN-AS1c.88511T>G (p.Val29504Gly)
c.69596T>G (p.Val23199Gly)
c.69395T>G (p.Val23132Gly)
c.69020T>G (p.Val23007Gly)
c.96215T>G (p.Val32072Gly)
c.91292T>G (p.Val30431Gly)
n.446+20293A>C
n.2043+1568A>C
c.95312T>G (p.Val31771Gly)
c.69206T>G (p.Val23069Gly)
c.69065T>G (p.Val23022Gly)
c.95108T>G (p.Val31703Gly)
c.90506T>G (p.Val30169Gly)
c.90503T>G (p.Val30168Gly)
c.87545T>G (p.Val29182Gly)
c.69161T>G (p.Val23054Gly)
c.90656T>G (p.Val30219Gly)
c.90653T>G (p.Val30218Gly)
c.90086T>G (p.Val30029Gly)
c.87428T>G (p.Val29143Gly)
c.87347T>G (p.Val29116Gly)
c.69110T>G (p.Val23037Gly)
c.58964T>G (p.Val19655Gly)
 gnomAD v4
2g.178543929A>GCA349451246TTN,TTN-AS1c.88511T>C (p.Val29504Ala)
c.69596T>C (p.Val23199Ala)
c.69395T>C (p.Val23132Ala)
c.69020T>C (p.Val23007Ala)
c.96215T>C (p.Val32072Ala)
c.91292T>C (p.Val30431Ala)
n.446+20293A>G
n.2043+1568A>G
c.95312T>C (p.Val31771Ala)
c.69206T>C (p.Val23069Ala)
c.69065T>C (p.Val23022Ala)
c.95108T>C (p.Val31703Ala)
c.90506T>C (p.Val30169Ala)
c.90503T>C (p.Val30168Ala)
c.87545T>C (p.Val29182Ala)
c.69161T>C (p.Val23054Ala)
c.90656T>C (p.Val30219Ala)
c.90653T>C (p.Val30218Ala)
c.90086T>C (p.Val30029Ala)
c.87428T>C (p.Val29143Ala)
c.87347T>C (p.Val29116Ala)
c.69110T>C (p.Val23037Ala)
c.58964T>C (p.Val19655Ala)
 dbSNP
2g.178543929A>TCA349451248TTN,TTN-AS1c.88511T>A (p.Val29504Glu)
c.69596T>A (p.Val23199Glu)
c.69395T>A (p.Val23132Glu)
c.69020T>A (p.Val23007Glu)
c.96215T>A (p.Val32072Glu)
c.91292T>A (p.Val30431Glu)
n.446+20293A>T
n.2043+1568A>T
c.95312T>A (p.Val31771Glu)
c.69206T>A (p.Val23069Glu)
c.69065T>A (p.Val23022Glu)
c.95108T>A (p.Val31703Glu)
c.90506T>A (p.Val30169Glu)
c.90503T>A (p.Val30168Glu)
c.87545T>A (p.Val29182Glu)
c.69161T>A (p.Val23054Glu)
c.90656T>A (p.Val30219Glu)
c.90653T>A (p.Val30218Glu)
c.90086T>A (p.Val30029Glu)
c.87428T>A (p.Val29143Glu)
c.87347T>A (p.Val29116Glu)
c.69110T>A (p.Val23037Glu)
c.58964T>A (p.Val19655Glu)
2g.178543930C>ACA349451252TTN,TTN-AS1c.88510G>T (p.Val29504Leu)
c.69595G>T (p.Val23199Leu)
c.69394G>T (p.Val23132Leu)
c.69019G>T (p.Val23007Leu)
c.96214G>T (p.Val32072Leu)
c.91291G>T (p.Val30431Leu)
n.446+20294C>A
n.2043+1569C>A
c.95311G>T (p.Val31771Leu)
c.69205G>T (p.Val23069Leu)
c.69064G>T (p.Val23022Leu)
c.95107G>T (p.Val31703Leu)
c.90505G>T (p.Val30169Leu)
c.90502G>T (p.Val30168Leu)
c.87544G>T (p.Val29182Leu)
c.69160G>T (p.Val23054Leu)
c.90655G>T (p.Val30219Leu)
c.90652G>T (p.Val30218Leu)
c.90085G>T (p.Val30029Leu)
c.87427G>T (p.Val29143Leu)
c.87346G>T (p.Val29116Leu)
c.69109G>T (p.Val23037Leu)
c.58963G>T (p.Val19655Leu)
2g.178543930C=CA1310521198TTN,TTN-AS1c.88510G= (p.Val29504=)
c.69595G= (p.Val23199=)
c.69394G= (p.Val23132=)
c.69019G= (p.Val23007=)
c.96214G= (p.Val32072=)
c.91291G= (p.Val30431=)
n.446+20294C=
n.2043+1569C=
c.95311G= (p.Val31771=)
c.69205G= (p.Val23069=)
c.69064G= (p.Val23022=)
c.95107G= (p.Val31703=)
c.90505G= (p.Val30169=)
c.90502G= (p.Val30168=)
c.87544G= (p.Val29182=)
c.69160G= (p.Val23054=)
c.90655G= (p.Val30219=)
c.90652G= (p.Val30218=)
c.90085G= (p.Val30029=)
c.87427G= (p.Val29143=)
c.87346G= (p.Val29116=)
c.69109G= (p.Val23037=)
c.58963G= (p.Val19655=)
2g.178543930C>GCA349451257TTN,TTN-AS1c.88510G>C (p.Val29504Leu)
c.69595G>C (p.Val23199Leu)
c.69394G>C (p.Val23132Leu)
c.69019G>C (p.Val23007Leu)
c.96214G>C (p.Val32072Leu)
c.91291G>C (p.Val30431Leu)
n.446+20294C>G
n.2043+1569C>G
c.95311G>C (p.Val31771Leu)
c.69205G>C (p.Val23069Leu)
c.69064G>C (p.Val23022Leu)
c.95107G>C (p.Val31703Leu)
c.90505G>C (p.Val30169Leu)
c.90502G>C (p.Val30168Leu)
c.87544G>C (p.Val29182Leu)
c.69160G>C (p.Val23054Leu)
c.90655G>C (p.Val30219Leu)
c.90652G>C (p.Val30218Leu)
c.90085G>C (p.Val30029Leu)
c.87427G>C (p.Val29143Leu)
c.87346G>C (p.Val29116Leu)
c.69109G>C (p.Val23037Leu)
c.58963G>C (p.Val19655Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178543930C>TCA349451259TTN,TTN-AS1c.88510G>A (p.Val29504Met)
c.69595G>A (p.Val23199Met)
c.69394G>A (p.Val23132Met)
c.69019G>A (p.Val23007Met)
c.96214G>A (p.Val32072Met)
c.91291G>A (p.Val30431Met)
n.446+20294C>T
n.2043+1569C>T
c.95311G>A (p.Val31771Met)
c.69205G>A (p.Val23069Met)
c.69064G>A (p.Val23022Met)
c.95107G>A (p.Val31703Met)
c.90505G>A (p.Val30169Met)
c.90502G>A (p.Val30168Met)
c.87544G>A (p.Val29182Met)
c.69160G>A (p.Val23054Met)
c.90655G>A (p.Val30219Met)
c.90652G>A (p.Val30218Met)
c.90085G>A (p.Val30029Met)
c.87427G>A (p.Val29143Met)
c.87346G>A (p.Val29116Met)
c.69109G>A (p.Val23037Met)
c.58963G>A (p.Val19655Met)
2g.178543931T>ACA430241694TTN,TTN-AS1c.88509A>T (p.Ile29503=)
c.69594A>T (p.Ile23198=)
c.69393A>T (p.Ile23131=)
c.69018A>T (p.Ile23006=)
c.96213A>T (p.Ile32071=)
c.91290A>T (p.Ile30430=)
n.446+20295T>A
n.2043+1570T>A
c.95310A>T (p.Ile31770=)
c.69204A>T (p.Ile23068=)
c.69063A>T (p.Ile23021=)
c.95106A>T (p.Ile31702=)
c.90504A>T (p.Ile30168=)
c.90501A>T (p.Ile30167=)
c.87543A>T (p.Ile29181=)
c.69159A>T (p.Ile23053=)
c.90654A>T (p.Ile30218=)
c.90651A>T (p.Ile30217=)
c.90084A>T (p.Ile30028=)
c.87426A>T (p.Ile29142=)
c.87345A>T (p.Ile29115=)
c.69108A>T (p.Ile23036=)
c.58962A>T (p.Ile19654=)
2g.178543931T>CCA349451263TTN,TTN-AS1c.88509A>G (p.Ile29503Met)
c.69594A>G (p.Ile23198Met)
c.69393A>G (p.Ile23131Met)
c.69018A>G (p.Ile23006Met)
c.96213A>G (p.Ile32071Met)
c.91290A>G (p.Ile30430Met)
n.446+20295T>C
n.2043+1570T>C
c.95310A>G (p.Ile31770Met)
c.69204A>G (p.Ile23068Met)
c.69063A>G (p.Ile23021Met)
c.95106A>G (p.Ile31702Met)
c.90504A>G (p.Ile30168Met)
c.90501A>G (p.Ile30167Met)
c.87543A>G (p.Ile29181Met)
c.69159A>G (p.Ile23053Met)
c.90654A>G (p.Ile30218Met)
c.90651A>G (p.Ile30217Met)
c.90084A>G (p.Ile30028Met)
c.87426A>G (p.Ile29142Met)
c.87345A>G (p.Ile29115Met)
c.69108A>G (p.Ile23036Met)
c.58962A>G (p.Ile19654Met)
2g.178543931T>GCA430241695TTN,TTN-AS1c.88509A>C (p.Ile29503=)
c.69594A>C (p.Ile23198=)
c.69393A>C (p.Ile23131=)
c.69018A>C (p.Ile23006=)
c.96213A>C (p.Ile32071=)
c.91290A>C (p.Ile30430=)
n.446+20295T>G
n.2043+1570T>G
c.95310A>C (p.Ile31770=)
c.69204A>C (p.Ile23068=)
c.69063A>C (p.Ile23021=)
c.95106A>C (p.Ile31702=)
c.90504A>C (p.Ile30168=)
c.90501A>C (p.Ile30167=)
c.87543A>C (p.Ile29181=)
c.69159A>C (p.Ile23053=)
c.90654A>C (p.Ile30218=)
c.90651A>C (p.Ile30217=)
c.90084A>C (p.Ile30028=)
c.87426A>C (p.Ile29142=)
c.87345A>C (p.Ile29115=)
c.69108A>C (p.Ile23036=)
c.58962A>C (p.Ile19654=)
2g.178543932A=CA1310521201TTN,TTN-AS1c.88508T= (p.Ile29503=)
c.69593T= (p.Ile23198=)
c.69392T= (p.Ile23131=)
c.69017T= (p.Ile23006=)
c.96212T= (p.Ile32071=)
c.91289T= (p.Ile30430=)
n.446+20296A=
n.2043+1571A=
c.95309T= (p.Ile31770=)
c.69203T= (p.Ile23068=)
c.69062T= (p.Ile23021=)
c.95105T= (p.Ile31702=)
c.90503T= (p.Ile30168=)
c.90500T= (p.Ile30167=)
c.87542T= (p.Ile29181=)
c.69158T= (p.Ile23053=)
c.90653T= (p.Ile30218=)
c.90650T= (p.Ile30217=)
c.90083T= (p.Ile30028=)
c.87425T= (p.Ile29142=)
c.87344T= (p.Ile29115=)
c.69107T= (p.Ile23036=)
c.58961T= (p.Ile19654=)
2g.178543932A>CCA1986799TTN,TTN-AS1c.88508T>G (p.Ile29503Arg)
c.69593T>G (p.Ile23198Arg)
c.69392T>G (p.Ile23131Arg)
c.69017T>G (p.Ile23006Arg)
c.96212T>G (p.Ile32071Arg)
c.91289T>G (p.Ile30430Arg)
n.446+20296A>C
n.2043+1571A>C
c.95309T>G (p.Ile31770Arg)
c.69203T>G (p.Ile23068Arg)
c.69062T>G (p.Ile23021Arg)
c.95105T>G (p.Ile31702Arg)
c.90503T>G (p.Ile30168Arg)
c.90500T>G (p.Ile30167Arg)
c.87542T>G (p.Ile29181Arg)
c.69158T>G (p.Ile23053Arg)
c.90653T>G (p.Ile30218Arg)
c.90650T>G (p.Ile30217Arg)
c.90083T>G (p.Ile30028Arg)
c.87425T>G (p.Ile29142Arg)
c.87344T>G (p.Ile29115Arg)
c.69107T>G (p.Ile23036Arg)
c.58961T>G (p.Ile19654Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543932A>GCA1986800TTN,TTN-AS1c.88508T>C (p.Ile29503Thr)
c.69593T>C (p.Ile23198Thr)
c.69392T>C (p.Ile23131Thr)
c.69017T>C (p.Ile23006Thr)
c.96212T>C (p.Ile32071Thr)
c.91289T>C (p.Ile30430Thr)
n.446+20296A>G
n.2043+1571A>G
c.95309T>C (p.Ile31770Thr)
c.69203T>C (p.Ile23068Thr)
c.69062T>C (p.Ile23021Thr)
c.95105T>C (p.Ile31702Thr)
c.90503T>C (p.Ile30168Thr)
c.90500T>C (p.Ile30167Thr)
c.87542T>C (p.Ile29181Thr)
c.69158T>C (p.Ile23053Thr)
c.90653T>C (p.Ile30218Thr)
c.90650T>C (p.Ile30217Thr)
c.90083T>C (p.Ile30028Thr)
c.87425T>C (p.Ile29142Thr)
c.87344T>C (p.Ile29115Thr)
c.69107T>C (p.Ile23036Thr)
c.58961T>C (p.Ile19654Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178543932A>TCA349451275TTN,TTN-AS1c.88508T>A (p.Ile29503Lys)
c.69593T>A (p.Ile23198Lys)
c.69392T>A (p.Ile23131Lys)
c.69017T>A (p.Ile23006Lys)
c.96212T>A (p.Ile32071Lys)
c.91289T>A (p.Ile30430Lys)
n.446+20296A>T
n.2043+1571A>T
c.95309T>A (p.Ile31770Lys)
c.69203T>A (p.Ile23068Lys)
c.69062T>A (p.Ile23021Lys)
c.95105T>A (p.Ile31702Lys)
c.90503T>A (p.Ile30168Lys)
c.90500T>A (p.Ile30167Lys)
c.87542T>A (p.Ile29181Lys)
c.69158T>A (p.Ile23053Lys)
c.90653T>A (p.Ile30218Lys)
c.90650T>A (p.Ile30217Lys)
c.90083T>A (p.Ile30028Lys)
c.87425T>A (p.Ile29142Lys)
c.87344T>A (p.Ile29115Lys)
c.69107T>A (p.Ile23036Lys)
c.58961T>A (p.Ile19654Lys)
2g.178543933T>ACA349451279TTN,TTN-AS1c.88507A>T (p.Ile29503Leu)
c.69592A>T (p.Ile23198Leu)
c.69391A>T (p.Ile23131Leu)
c.69016A>T (p.Ile23006Leu)
c.96211A>T (p.Ile32071Leu)
c.91288A>T (p.Ile30430Leu)
n.446+20297T>A
n.2043+1572T>A
c.95308A>T (p.Ile31770Leu)
c.69202A>T (p.Ile23068Leu)
c.69061A>T (p.Ile23021Leu)
c.95104A>T (p.Ile31702Leu)
c.90502A>T (p.Ile30168Leu)
c.90499A>T (p.Ile30167Leu)
c.87541A>T (p.Ile29181Leu)
c.69157A>T (p.Ile23053Leu)
c.90652A>T (p.Ile30218Leu)
c.90649A>T (p.Ile30217Leu)
c.90082A>T (p.Ile30028Leu)
c.87424A>T (p.Ile29142Leu)
c.87343A>T (p.Ile29115Leu)
c.69106A>T (p.Ile23036Leu)
c.58960A>T (p.Ile19654Leu)
2g.178543933T>CCA349451284TTN,TTN-AS1c.88507A>G (p.Ile29503Val)
c.69592A>G (p.Ile23198Val)
c.69391A>G (p.Ile23131Val)
c.69016A>G (p.Ile23006Val)
c.96211A>G (p.Ile32071Val)
c.91288A>G (p.Ile30430Val)
n.446+20297T>C
n.2043+1572T>C
c.95308A>G (p.Ile31770Val)
c.69202A>G (p.Ile23068Val)
c.69061A>G (p.Ile23021Val)
c.95104A>G (p.Ile31702Val)
c.90502A>G (p.Ile30168Val)
c.90499A>G (p.Ile30167Val)
c.87541A>G (p.Ile29181Val)
c.69157A>G (p.Ile23053Val)
c.90652A>G (p.Ile30218Val)
c.90649A>G (p.Ile30217Val)
c.90082A>G (p.Ile30028Val)
c.87424A>G (p.Ile29142Val)
c.87343A>G (p.Ile29115Val)
c.69106A>G (p.Ile23036Val)
c.58960A>G (p.Ile19654Val)
2g.178543933T>GCA349451277TTN,TTN-AS1c.88507A>C (p.Ile29503Leu)
c.69592A>C (p.Ile23198Leu)
c.69391A>C (p.Ile23131Leu)
c.69016A>C (p.Ile23006Leu)
c.96211A>C (p.Ile32071Leu)
c.91288A>C (p.Ile30430Leu)
n.446+20297T>G
n.2043+1572T>G
c.95308A>C (p.Ile31770Leu)
c.69202A>C (p.Ile23068Leu)
c.69061A>C (p.Ile23021Leu)
c.95104A>C (p.Ile31702Leu)
c.90502A>C (p.Ile30168Leu)
c.90499A>C (p.Ile30167Leu)
c.87541A>C (p.Ile29181Leu)
c.69157A>C (p.Ile23053Leu)
c.90652A>C (p.Ile30218Leu)
c.90649A>C (p.Ile30217Leu)
c.90082A>C (p.Ile30028Leu)
c.87424A>C (p.Ile29142Leu)
c.87343A>C (p.Ile29115Leu)
c.69106A>C (p.Ile23036Leu)
c.58960A>C (p.Ile19654Leu)
2g.178543934T>ACA430241701TTN,TTN-AS1c.88506A>T (p.Leu29502=)
c.69591A>T (p.Leu23197=)
c.69390A>T (p.Leu23130=)
c.69015A>T (p.Leu23005=)
c.96210A>T (p.Leu32070=)
c.91287A>T (p.Leu30429=)
n.446+20298T>A
n.2043+1573T>A
c.95307A>T (p.Leu31769=)
c.69201A>T (p.Leu23067=)
c.69060A>T (p.Leu23020=)
c.95103A>T (p.Leu31701=)
c.90501A>T (p.Leu30167=)
c.90498A>T (p.Leu30166=)
c.87540A>T (p.Leu29180=)
c.69156A>T (p.Leu23052=)
c.90651A>T (p.Leu30217=)
c.90648A>T (p.Leu30216=)
c.90081A>T (p.Leu30027=)
c.87423A>T (p.Leu29141=)
c.87342A>T (p.Leu29114=)
c.69105A>T (p.Leu23035=)
c.58959A>T (p.Leu19653=)
2g.178543934T>CCA430241704TTN,TTN-AS1c.88506A>G (p.Leu29502=)
c.69591A>G (p.Leu23197=)
c.69390A>G (p.Leu23130=)
c.69015A>G (p.Leu23005=)
c.96210A>G (p.Leu32070=)
c.91287A>G (p.Leu30429=)
n.446+20298T>C
n.2043+1573T>C
c.95307A>G (p.Leu31769=)
c.69201A>G (p.Leu23067=)
c.69060A>G (p.Leu23020=)
c.95103A>G (p.Leu31701=)
c.90501A>G (p.Leu30167=)
c.90498A>G (p.Leu30166=)
c.87540A>G (p.Leu29180=)
c.69156A>G (p.Leu23052=)
c.90651A>G (p.Leu30217=)
c.90648A>G (p.Leu30216=)
c.90081A>G (p.Leu30027=)
c.87423A>G (p.Leu29141=)
c.87342A>G (p.Leu29114=)
c.69105A>G (p.Leu23035=)
c.58959A>G (p.Leu19653=)
2g.178543934T>GCA430241703TTN,TTN-AS1c.88506A>C (p.Leu29502=)
c.69591A>C (p.Leu23197=)
c.69390A>C (p.Leu23130=)
c.69015A>C (p.Leu23005=)
c.96210A>C (p.Leu32070=)
c.91287A>C (p.Leu30429=)
n.446+20298T>G
n.2043+1573T>G
c.95307A>C (p.Leu31769=)
c.69201A>C (p.Leu23067=)
c.69060A>C (p.Leu23020=)
c.95103A>C (p.Leu31701=)
c.90501A>C (p.Leu30167=)
c.90498A>C (p.Leu30166=)
c.87540A>C (p.Leu29180=)
c.69156A>C (p.Leu23052=)
c.90651A>C (p.Leu30217=)
c.90648A>C (p.Leu30216=)
c.90081A>C (p.Leu30027=)
c.87423A>C (p.Leu29141=)
c.87342A>C (p.Leu29114=)
c.69105A>C (p.Leu23035=)
c.58959A>C (p.Leu19653=)
2g.178543935A=CA1310521204TTN,TTN-AS1c.88505T= (p.Leu29502=)
c.69590T= (p.Leu23197=)
c.69389T= (p.Leu23130=)
c.69014T= (p.Leu23005=)
c.96209T= (p.Leu32070=)
c.91286T= (p.Leu30429=)
n.446+20299A=
n.2043+1574A=
c.95306T= (p.Leu31769=)
c.69200T= (p.Leu23067=)
c.69059T= (p.Leu23020=)
c.95102T= (p.Leu31701=)
c.90500T= (p.Leu30167=)
c.90497T= (p.Leu30166=)
c.87539T= (p.Leu29180=)
c.69155T= (p.Leu23052=)
c.90650T= (p.Leu30217=)
c.90647T= (p.Leu30216=)
c.90080T= (p.Leu30027=)
c.87422T= (p.Leu29141=)
c.87341T= (p.Leu29114=)
c.69104T= (p.Leu23035=)
c.58958T= (p.Leu19653=)
2g.178543935A>CCA349451289TTN,TTN-AS1c.88505T>G (p.Leu29502Arg)
c.69590T>G (p.Leu23197Arg)
c.69389T>G (p.Leu23130Arg)
c.69014T>G (p.Leu23005Arg)
c.96209T>G (p.Leu32070Arg)
c.91286T>G (p.Leu30429Arg)
n.446+20299A>C
n.2043+1574A>C
c.95306T>G (p.Leu31769Arg)
c.69200T>G (p.Leu23067Arg)
c.69059T>G (p.Leu23020Arg)
c.95102T>G (p.Leu31701Arg)
c.90500T>G (p.Leu30167Arg)
c.90497T>G (p.Leu30166Arg)
c.87539T>G (p.Leu29180Arg)
c.69155T>G (p.Leu23052Arg)
c.90650T>G (p.Leu30217Arg)
c.90647T>G (p.Leu30216Arg)
c.90080T>G (p.Leu30027Arg)
c.87422T>G (p.Leu29141Arg)
c.87341T>G (p.Leu29114Arg)
c.69104T>G (p.Leu23035Arg)
c.58958T>G (p.Leu19653Arg)
 gnomAD v4
2g.178543935A>GCA349451295TTN,TTN-AS1c.88505T>C (p.Leu29502Pro)
c.69590T>C (p.Leu23197Pro)
c.69389T>C (p.Leu23130Pro)
c.69014T>C (p.Leu23005Pro)
c.96209T>C (p.Leu32070Pro)
c.91286T>C (p.Leu30429Pro)
n.446+20299A>G
n.2043+1574A>G
c.95306T>C (p.Leu31769Pro)
c.69200T>C (p.Leu23067Pro)
c.69059T>C (p.Leu23020Pro)
c.95102T>C (p.Leu31701Pro)
c.90500T>C (p.Leu30167Pro)
c.90497T>C (p.Leu30166Pro)
c.87539T>C (p.Leu29180Pro)
c.69155T>C (p.Leu23052Pro)
c.90650T>C (p.Leu30217Pro)
c.90647T>C (p.Leu30216Pro)
c.90080T>C (p.Leu30027Pro)
c.87422T>C (p.Leu29141Pro)
c.87341T>C (p.Leu29114Pro)
c.69104T>C (p.Leu23035Pro)
c.58958T>C (p.Leu19653Pro)
2g.178543935A>TCA1986801TTN,TTN-AS1c.88505T>A (p.Leu29502Gln)
c.69590T>A (p.Leu23197Gln)
c.69389T>A (p.Leu23130Gln)
c.69014T>A (p.Leu23005Gln)
c.96209T>A (p.Leu32070Gln)
c.91286T>A (p.Leu30429Gln)
n.446+20299A>T
n.2043+1574A>T
c.95306T>A (p.Leu31769Gln)
c.69200T>A (p.Leu23067Gln)
c.69059T>A (p.Leu23020Gln)
c.95102T>A (p.Leu31701Gln)
c.90500T>A (p.Leu30167Gln)
c.90497T>A (p.Leu30166Gln)
c.87539T>A (p.Leu29180Gln)
c.69155T>A (p.Leu23052Gln)
c.90650T>A (p.Leu30217Gln)
c.90647T>A (p.Leu30216Gln)
c.90080T>A (p.Leu30027Gln)
c.87422T>A (p.Leu29141Gln)
c.87341T>A (p.Leu29114Gln)
c.69104T>A (p.Leu23035Gln)
c.58958T>A (p.Leu19653Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178543936G>ACA430241706TTN,TTN-AS1c.88504C>T (p.Leu29502=)
c.69589C>T (p.Leu23197=)
c.69388C>T (p.Leu23130=)
c.69013C>T (p.Leu23005=)
c.96208C>T (p.Leu32070=)
c.91285C>T (p.Leu30429=)
n.446+20300G>A
n.2043+1575G>A
c.95305C>T (p.Leu31769=)
c.69199C>T (p.Leu23067=)
c.69058C>T (p.Leu23020=)
c.95101C>T (p.Leu31701=)
c.90499C>T (p.Leu30167=)
c.90496C>T (p.Leu30166=)
c.87538C>T (p.Leu29180=)
c.69154C>T (p.Leu23052=)
c.90649C>T (p.Leu30217=)
c.90646C>T (p.Leu30216=)
c.90079C>T (p.Leu30027=)
c.87421C>T (p.Leu29141=)
c.87340C>T (p.Leu29114=)
c.69103C>T (p.Leu23035=)
c.58957C>T (p.Leu19653=)
2g.178543936G>CCA349451298TTN,TTN-AS1c.88504C>G (p.Leu29502Val)
c.69589C>G (p.Leu23197Val)
c.69388C>G (p.Leu23130Val)
c.69013C>G (p.Leu23005Val)
c.96208C>G (p.Leu32070Val)
c.91285C>G (p.Leu30429Val)
n.446+20300G>C
n.2043+1575G>C
c.95305C>G (p.Leu31769Val)
c.69199C>G (p.Leu23067Val)
c.69058C>G (p.Leu23020Val)
c.95101C>G (p.Leu31701Val)
c.90499C>G (p.Leu30167Val)
c.90496C>G (p.Leu30166Val)
c.87538C>G (p.Leu29180Val)
c.69154C>G (p.Leu23052Val)
c.90649C>G (p.Leu30217Val)
c.90646C>G (p.Leu30216Val)
c.90079C>G (p.Leu30027Val)
c.87421C>G (p.Leu29141Val)
c.87340C>G (p.Leu29114Val)
c.69103C>G (p.Leu23035Val)
c.58957C>G (p.Leu19653Val)
 gnomAD v4
2g.178543936G>TCA349451299TTN,TTN-AS1c.88504C>A (p.Leu29502Ile)
c.69589C>A (p.Leu23197Ile)
c.69388C>A (p.Leu23130Ile)
c.69013C>A (p.Leu23005Ile)
c.96208C>A (p.Leu32070Ile)
c.91285C>A (p.Leu30429Ile)
n.446+20300G>T
n.2043+1575G>T
c.95305C>A (p.Leu31769Ile)
c.69199C>A (p.Leu23067Ile)
c.69058C>A (p.Leu23020Ile)
c.95101C>A (p.Leu31701Ile)
c.90499C>A (p.Leu30167Ile)
c.90496C>A (p.Leu30166Ile)
c.87538C>A (p.Leu29180Ile)
c.69154C>A (p.Leu23052Ile)
c.90649C>A (p.Leu30217Ile)
c.90646C>A (p.Leu30216Ile)
c.90079C>A (p.Leu30027Ile)
c.87421C>A (p.Leu29141Ile)
c.87340C>A (p.Leu29114Ile)
c.69103C>A (p.Leu23035Ile)
c.58957C>A (p.Leu19653Ile)
2g.178543937C>ACA349451300TTN,TTN-AS1c.88503G>T (p.Leu29501Phe)
c.69588G>T (p.Leu23196Phe)
c.69387G>T (p.Leu23129Phe)
c.69012G>T (p.Leu23004Phe)
c.96207G>T (p.Leu32069Phe)
c.91284G>T (p.Leu30428Phe)
n.446+20301C>A
n.2043+1576C>A
c.95304G>T (p.Leu31768Phe)
c.69198G>T (p.Leu23066Phe)
c.69057G>T (p.Leu23019Phe)
c.95100G>T (p.Leu31700Phe)
c.90498G>T (p.Leu30166Phe)
c.90495G>T (p.Leu30165Phe)
c.87537G>T (p.Leu29179Phe)
c.69153G>T (p.Leu23051Phe)
c.90648G>T (p.Leu30216Phe)
c.90645G>T (p.Leu30215Phe)
c.90078G>T (p.Leu30026Phe)
c.87420G>T (p.Leu29140Phe)
c.87339G>T (p.Leu29113Phe)
c.69102G>T (p.Leu23034Phe)
c.58956G>T (p.Leu19652Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.178543937C=CA1310521206TTN,TTN-AS1c.88503G= (p.Leu29501=)
c.69588G= (p.Leu23196=)
c.69387G= (p.Leu23129=)
c.69012G= (p.Leu23004=)
c.96207G= (p.Leu32069=)
c.91284G= (p.Leu30428=)
n.446+20301C=
n.2043+1576C=
c.95304G= (p.Leu31768=)
c.69198G= (p.Leu23066=)
c.69057G= (p.Leu23019=)
c.95100G= (p.Leu31700=)
c.90498G= (p.Leu30166=)
c.90495G= (p.Leu30165=)
c.87537G= (p.Leu29179=)
c.69153G= (p.Leu23051=)
c.90648G= (p.Leu30216=)
c.90645G= (p.Leu30215=)
c.90078G= (p.Leu30026=)
c.87420G= (p.Leu29140=)
c.87339G= (p.Leu29113=)
c.69102G= (p.Leu23034=)
c.58956G= (p.Leu19652=)
2g.178543937C>GCA349451301TTN,TTN-AS1c.88503G>C (p.Leu29501Phe)
c.69588G>C (p.Leu23196Phe)
c.69387G>C (p.Leu23129Phe)
c.69012G>C (p.Leu23004Phe)
c.96207G>C (p.Leu32069Phe)
c.91284G>C (p.Leu30428Phe)
n.446+20301C>G
n.2043+1576C>G
c.95304G>C (p.Leu31768Phe)
c.69198G>C (p.Leu23066Phe)
c.69057G>C (p.Leu23019Phe)
c.95100G>C (p.Leu31700Phe)
c.90498G>C (p.Leu30166Phe)
c.90495G>C (p.Leu30165Phe)
c.87537G>C (p.Leu29179Phe)
c.69153G>C (p.Leu23051Phe)
c.90648G>C (p.Leu30216Phe)
c.90645G>C (p.Leu30215Phe)
c.90078G>C (p.Leu30026Phe)
c.87420G>C (p.Leu29140Phe)
c.87339G>C (p.Leu29113Phe)
c.69102G>C (p.Leu23034Phe)
c.58956G>C (p.Leu19652Phe)
2g.178543937C>TCA430241709TTN,TTN-AS1c.88503G>A (p.Leu29501=)
c.69588G>A (p.Leu23196=)
c.69387G>A (p.Leu23129=)
c.69012G>A (p.Leu23004=)
c.96207G>A (p.Leu32069=)
c.91284G>A (p.Leu30428=)
n.446+20301C>T
n.2043+1576C>T
c.95304G>A (p.Leu31768=)
c.69198G>A (p.Leu23066=)
c.69057G>A (p.Leu23019=)
c.95100G>A (p.Leu31700=)
c.90498G>A (p.Leu30166=)
c.90495G>A (p.Leu30165=)
c.87537G>A (p.Leu29179=)
c.69153G>A (p.Leu23051=)
c.90648G>A (p.Leu30216=)
c.90645G>A (p.Leu30215=)
c.90078G>A (p.Leu30026=)
c.87420G>A (p.Leu29140=)
c.87339G>A (p.Leu29113=)
c.69102G>A (p.Leu23034=)
c.58956G>A (p.Leu19652=)
 gnomAD v4
2g.178543938A>CCA349451305TTN,TTN-AS1c.88502T>G (p.Leu29501Trp)
c.69587T>G (p.Leu23196Trp)
c.69386T>G (p.Leu23129Trp)
c.69011T>G (p.Leu23004Trp)
c.96206T>G (p.Leu32069Trp)
c.91283T>G (p.Leu30428Trp)
n.446+20302A>C
n.2043+1577A>C
c.95303T>G (p.Leu31768Trp)
c.69197T>G (p.Leu23066Trp)
c.69056T>G (p.Leu23019Trp)
c.95099T>G (p.Leu31700Trp)
c.90497T>G (p.Leu30166Trp)
c.90494T>G (p.Leu30165Trp)
c.87536T>G (p.Leu29179Trp)
c.69152T>G (p.Leu23051Trp)
c.90647T>G (p.Leu30216Trp)
c.90644T>G (p.Leu30215Trp)
c.90077T>G (p.Leu30026Trp)
c.87419T>G (p.Leu29140Trp)
c.87338T>G (p.Leu29113Trp)
c.69101T>G (p.Leu23034Trp)
c.58955T>G (p.Leu19652Trp)
2g.178543938A>GCA349451308TTN,TTN-AS1c.88502T>C (p.Leu29501Ser)
c.69587T>C (p.Leu23196Ser)
c.69386T>C (p.Leu23129Ser)
c.69011T>C (p.Leu23004Ser)
c.96206T>C (p.Leu32069Ser)
c.91283T>C (p.Leu30428Ser)
n.446+20302A>G
n.2043+1577A>G
c.95303T>C (p.Leu31768Ser)
c.69197T>C (p.Leu23066Ser)
c.69056T>C (p.Leu23019Ser)
c.95099T>C (p.Leu31700Ser)
c.90497T>C (p.Leu30166Ser)
c.90494T>C (p.Leu30165Ser)
c.87536T>C (p.Leu29179Ser)
c.69152T>C (p.Leu23051Ser)
c.90647T>C (p.Leu30216Ser)
c.90644T>C (p.Leu30215Ser)
c.90077T>C (p.Leu30026Ser)
c.87419T>C (p.Leu29140Ser)
c.87338T>C (p.Leu29113Ser)
c.69101T>C (p.Leu23034Ser)
c.58955T>C (p.Leu19652Ser)
2g.178543938A>TCA349451329TTN,TTN-AS1c.88502T>A (p.Leu29501Ter)
c.69587T>A (p.Leu23196Ter)
c.69386T>A (p.Leu23129Ter)
c.69011T>A (p.Leu23004Ter)
c.96206T>A (p.Leu32069Ter)
c.91283T>A (p.Leu30428Ter)
n.446+20302A>T
n.2043+1577A>T
c.95303T>A (p.Leu31768Ter)
c.69197T>A (p.Leu23066Ter)
c.69056T>A (p.Leu23019Ter)
c.95099T>A (p.Leu31700Ter)
c.90497T>A (p.Leu30166Ter)
c.90494T>A (p.Leu30165Ter)
c.87536T>A (p.Leu29179Ter)
c.69152T>A (p.Leu23051Ter)
c.90647T>A (p.Leu30216Ter)
c.90644T>A (p.Leu30215Ter)
c.90077T>A (p.Leu30026Ter)
c.87419T>A (p.Leu29140Ter)
c.87338T>A (p.Leu29113Ter)
c.69101T>A (p.Leu23034Ter)
c.58955T>A (p.Leu19652Ter)
2g.178543939A=CA1310521208TTN,TTN-AS1c.88501T= (p.Leu29501=)
c.69586T= (p.Leu23196=)
c.69385T= (p.Leu23129=)
c.69010T= (p.Leu23004=)
c.96205T= (p.Leu32069=)
c.91282T= (p.Leu30428=)
n.446+20303A=
n.2043+1578A=
c.95302T= (p.Leu31768=)
c.69196T= (p.Leu23066=)
c.69055T= (p.Leu23019=)
c.95098T= (p.Leu31700=)
c.90496T= (p.Leu30166=)
c.90493T= (p.Leu30165=)
c.87535T= (p.Leu29179=)
c.69151T= (p.Leu23051=)
c.90646T= (p.Leu30216=)
c.90643T= (p.Leu30215=)
c.90076T= (p.Leu30026=)
c.87418T= (p.Leu29140=)
c.87337T= (p.Leu29113=)
c.69100T= (p.Leu23034=)
c.58954T= (p.Leu19652=)
2g.178543939A>CCA349451339TTN,TTN-AS1c.88501T>G (p.Leu29501Val)
c.69586T>G (p.Leu23196Val)
c.69385T>G (p.Leu23129Val)
c.69010T>G (p.Leu23004Val)
c.96205T>G (p.Leu32069Val)
c.91282T>G (p.Leu30428Val)
n.446+20303A>C
n.2043+1578A>C
c.95302T>G (p.Leu31768Val)
c.69196T>G (p.Leu23066Val)
c.69055T>G (p.Leu23019Val)
c.95098T>G (p.Leu31700Val)
c.90496T>G (p.Leu30166Val)
c.90493T>G (p.Leu30165Val)
c.87535T>G (p.Leu29179Val)
c.69151T>G (p.Leu23051Val)
c.90646T>G (p.Leu30216Val)
c.90643T>G (p.Leu30215Val)
c.90076T>G (p.Leu30026Val)
c.87418T>G (p.Leu29140Val)
c.87337T>G (p.Leu29113Val)
c.69100T>G (p.Leu23034Val)
c.58954T>G (p.Leu19652Val)
2g.178543939A>GCA1986802TTN,TTN-AS1c.88501T>C (p.Leu29501=)
c.69586T>C (p.Leu23196=)
c.69385T>C (p.Leu23129=)
c.69010T>C (p.Leu23004=)
c.96205T>C (p.Leu32069=)
c.91282T>C (p.Leu30428=)
n.446+20303A>G
n.2043+1578A>G
c.95302T>C (p.Leu31768=)
c.69196T>C (p.Leu23066=)
c.69055T>C (p.Leu23019=)
c.95098T>C (p.Leu31700=)
c.90496T>C (p.Leu30166=)
c.90493T>C (p.Leu30165=)
c.87535T>C (p.Leu29179=)
c.69151T>C (p.Leu23051=)
c.90646T>C (p.Leu30216=)
c.90643T>C (p.Leu30215=)
c.90076T>C (p.Leu30026=)
c.87418T>C (p.Leu29140=)
c.87337T>C (p.Leu29113=)
c.69100T>C (p.Leu23034=)
c.58954T>C (p.Leu19652=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178543939A>TCA349451341TTN,TTN-AS1c.88501T>A (p.Leu29501Met)
c.69586T>A (p.Leu23196Met)
c.69385T>A (p.Leu23129Met)
c.69010T>A (p.Leu23004Met)
c.96205T>A (p.Leu32069Met)
c.91282T>A (p.Leu30428Met)
n.446+20303A>T
n.2043+1578A>T
c.95302T>A (p.Leu31768Met)
c.69196T>A (p.Leu23066Met)
c.69055T>A (p.Leu23019Met)
c.95098T>A (p.Leu31700Met)
c.90496T>A (p.Leu30166Met)
c.90493T>A (p.Leu30165Met)
c.87535T>A (p.Leu29179Met)
c.69151T>A (p.Leu23051Met)
c.90646T>A (p.Leu30216Met)
c.90643T>A (p.Leu30215Met)
c.90076T>A (p.Leu30026Met)
c.87418T>A (p.Leu29140Met)
c.87337T>A (p.Leu29113Met)
c.69100T>A (p.Leu23034Met)
c.58954T>A (p.Leu19652Met)

Number of alleles fetched