Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178598544C>ACA349523826TTN,TTN-AS1c.49369G>T (p.Val16457Phe)
c.30454G>T (p.Val10152Phe)
c.30253G>T (p.Val10085Phe)
c.29878G>T (p.Val9960Phe)
c.57073G>T (p.Val19025Phe)
c.52150G>T (p.Val17384Phe)
n.682+863C>A
n.3451-12C>A
c.56170G>T (p.Val18724Phe)
c.30064G>T (p.Val10022Phe)
c.29923G>T (p.Val9975Phe)
c.55966G>T (p.Val18656Phe)
c.51364G>T (p.Val17122Phe)
c.51361G>T (p.Val17121Phe)
c.48403G>T (p.Val16135Phe)
c.30019G>T (p.Val10007Phe)
c.51514G>T (p.Val17172Phe)
c.51511G>T (p.Val17171Phe)
c.50944G>T (p.Val16982Phe)
c.48286G>T (p.Val16096Phe)
c.48205G>T (p.Val16069Phe)
c.29968G>T (p.Val9990Phe)
c.19822G>T (p.Val6608Phe)
 gnomAD v4
2g.178598544C=CA1310542805TTN,TTN-AS1c.49369G= (p.Val16457=)
c.30454G= (p.Val10152=)
c.30253G= (p.Val10085=)
c.29878G= (p.Val9960=)
c.57073G= (p.Val19025=)
c.52150G= (p.Val17384=)
n.682+863C=
n.3451-12C=
c.56170G= (p.Val18724=)
c.30064G= (p.Val10022=)
c.29923G= (p.Val9975=)
c.55966G= (p.Val18656=)
c.51364G= (p.Val17122=)
c.51361G= (p.Val17121=)
c.48403G= (p.Val16135=)
c.30019G= (p.Val10007=)
c.51514G= (p.Val17172=)
c.51511G= (p.Val17171=)
c.50944G= (p.Val16982=)
c.48286G= (p.Val16096=)
c.48205G= (p.Val16069=)
c.29968G= (p.Val9990=)
c.19822G= (p.Val6608=)
2g.178598544C>GCA349523829TTN,TTN-AS1c.49369G>C (p.Val16457Leu)
c.30454G>C (p.Val10152Leu)
c.30253G>C (p.Val10085Leu)
c.29878G>C (p.Val9960Leu)
c.57073G>C (p.Val19025Leu)
c.52150G>C (p.Val17384Leu)
n.682+863C>G
n.3451-12C>G
c.56170G>C (p.Val18724Leu)
c.30064G>C (p.Val10022Leu)
c.29923G>C (p.Val9975Leu)
c.55966G>C (p.Val18656Leu)
c.51364G>C (p.Val17122Leu)
c.51361G>C (p.Val17121Leu)
c.48403G>C (p.Val16135Leu)
c.30019G>C (p.Val10007Leu)
c.51514G>C (p.Val17172Leu)
c.51511G>C (p.Val17171Leu)
c.50944G>C (p.Val16982Leu)
c.48286G>C (p.Val16096Leu)
c.48205G>C (p.Val16069Leu)
c.29968G>C (p.Val9990Leu)
c.19822G>C (p.Val6608Leu)
2g.178598544C>TCA248822TTN,TTN-AS1c.49369G>A (p.Val16457Ile)
c.30454G>A (p.Val10152Ile)
c.30253G>A (p.Val10085Ile)
c.29878G>A (p.Val9960Ile)
c.57073G>A (p.Val19025Ile)
c.52150G>A (p.Val17384Ile)
n.682+863C>T
n.3451-12C>T
c.56170G>A (p.Val18724Ile)
c.30064G>A (p.Val10022Ile)
c.29923G>A (p.Val9975Ile)
c.55966G>A (p.Val18656Ile)
c.51364G>A (p.Val17122Ile)
c.51361G>A (p.Val17121Ile)
c.48403G>A (p.Val16135Ile)
c.30019G>A (p.Val10007Ile)
c.51514G>A (p.Val17172Ile)
c.51511G>A (p.Val17171Ile)
c.50944G>A (p.Val16982Ile)
c.48286G>A (p.Val16096Ile)
c.48205G>A (p.Val16069Ile)
c.29968G>A (p.Val9990Ile)
c.19822G>A (p.Val6608Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178598545G>ACA1993116TTN,TTN-AS1c.49368C>T (p.Ile16456=)
c.30453C>T (p.Ile10151=)
c.30252C>T (p.Ile10084=)
c.29877C>T (p.Ile9959=)
c.57072C>T (p.Ile19024=)
c.52149C>T (p.Ile17383=)
n.682+864G>A
n.3451-11G>A
c.56169C>T (p.Ile18723=)
c.30063C>T (p.Ile10021=)
c.29922C>T (p.Ile9974=)
c.55965C>T (p.Ile18655=)
c.51363C>T (p.Ile17121=)
c.51360C>T (p.Ile17120=)
c.48402C>T (p.Ile16134=)
c.30018C>T (p.Ile10006=)
c.51513C>T (p.Ile17171=)
c.51510C>T (p.Ile17170=)
c.50943C>T (p.Ile16981=)
c.48285C>T (p.Ile16095=)
c.48204C>T (p.Ile16068=)
c.29967C>T (p.Ile9989=)
c.19821C>T (p.Ile6607=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178598545G>CCA349523830TTN,TTN-AS1c.49368C>G (p.Ile16456Met)
c.30453C>G (p.Ile10151Met)
c.30252C>G (p.Ile10084Met)
c.29877C>G (p.Ile9959Met)
c.57072C>G (p.Ile19024Met)
c.52149C>G (p.Ile17383Met)
n.682+864G>C
n.3451-11G>C
c.56169C>G (p.Ile18723Met)
c.30063C>G (p.Ile10021Met)
c.29922C>G (p.Ile9974Met)
c.55965C>G (p.Ile18655Met)
c.51363C>G (p.Ile17121Met)
c.51360C>G (p.Ile17120Met)
c.48402C>G (p.Ile16134Met)
c.30018C>G (p.Ile10006Met)
c.51513C>G (p.Ile17171Met)
c.51510C>G (p.Ile17170Met)
c.50943C>G (p.Ile16981Met)
c.48285C>G (p.Ile16095Met)
c.48204C>G (p.Ile16068Met)
c.29967C>G (p.Ile9989Met)
c.19821C>G (p.Ile6607Met)
2g.178598545G=CA1310542806TTN,TTN-AS1c.49368C= (p.Ile16456=)
c.30453C= (p.Ile10151=)
c.30252C= (p.Ile10084=)
c.29877C= (p.Ile9959=)
c.57072C= (p.Ile19024=)
c.52149C= (p.Ile17383=)
n.682+864G=
n.3451-11G=
c.56169C= (p.Ile18723=)
c.30063C= (p.Ile10021=)
c.29922C= (p.Ile9974=)
c.55965C= (p.Ile18655=)
c.51363C= (p.Ile17121=)
c.51360C= (p.Ile17120=)
c.48402C= (p.Ile16134=)
c.30018C= (p.Ile10006=)
c.51513C= (p.Ile17171=)
c.51510C= (p.Ile17170=)
c.50943C= (p.Ile16981=)
c.48285C= (p.Ile16095=)
c.48204C= (p.Ile16068=)
c.29967C= (p.Ile9989=)
c.19821C= (p.Ile6607=)
2g.178598545G>TCA430099104TTN,TTN-AS1c.49368C>A (p.Ile16456=)
c.30453C>A (p.Ile10151=)
c.30252C>A (p.Ile10084=)
c.29877C>A (p.Ile9959=)
c.57072C>A (p.Ile19024=)
c.52149C>A (p.Ile17383=)
n.682+864G>T
n.3451-11G>T
c.56169C>A (p.Ile18723=)
c.30063C>A (p.Ile10021=)
c.29922C>A (p.Ile9974=)
c.55965C>A (p.Ile18655=)
c.51363C>A (p.Ile17121=)
c.51360C>A (p.Ile17120=)
c.48402C>A (p.Ile16134=)
c.30018C>A (p.Ile10006=)
c.51513C>A (p.Ile17171=)
c.51510C>A (p.Ile17170=)
c.50943C>A (p.Ile16981=)
c.48285C>A (p.Ile16095=)
c.48204C>A (p.Ile16068=)
c.29967C>A (p.Ile9989=)
c.19821C>A (p.Ile6607=)
2g.178598546A>CCA349523831TTN,TTN-AS1c.49367T>G (p.Ile16456Ser)
c.30452T>G (p.Ile10151Ser)
c.30251T>G (p.Ile10084Ser)
c.29876T>G (p.Ile9959Ser)
c.57071T>G (p.Ile19024Ser)
c.52148T>G (p.Ile17383Ser)
n.682+865A>C
n.3451-10A>C
c.56168T>G (p.Ile18723Ser)
c.30062T>G (p.Ile10021Ser)
c.29921T>G (p.Ile9974Ser)
c.55964T>G (p.Ile18655Ser)
c.51362T>G (p.Ile17121Ser)
c.51359T>G (p.Ile17120Ser)
c.48401T>G (p.Ile16134Ser)
c.30017T>G (p.Ile10006Ser)
c.51512T>G (p.Ile17171Ser)
c.51509T>G (p.Ile17170Ser)
c.50942T>G (p.Ile16981Ser)
c.48284T>G (p.Ile16095Ser)
c.48203T>G (p.Ile16068Ser)
c.29966T>G (p.Ile9989Ser)
c.19820T>G (p.Ile6607Ser)
2g.178598546A>GCA349523834TTN,TTN-AS1c.49367T>C (p.Ile16456Thr)
c.30452T>C (p.Ile10151Thr)
c.30251T>C (p.Ile10084Thr)
c.29876T>C (p.Ile9959Thr)
c.57071T>C (p.Ile19024Thr)
c.52148T>C (p.Ile17383Thr)
n.682+865A>G
n.3451-10A>G
c.56168T>C (p.Ile18723Thr)
c.30062T>C (p.Ile10021Thr)
c.29921T>C (p.Ile9974Thr)
c.55964T>C (p.Ile18655Thr)
c.51362T>C (p.Ile17121Thr)
c.51359T>C (p.Ile17120Thr)
c.48401T>C (p.Ile16134Thr)
c.30017T>C (p.Ile10006Thr)
c.51512T>C (p.Ile17171Thr)
c.51509T>C (p.Ile17170Thr)
c.50942T>C (p.Ile16981Thr)
c.48284T>C (p.Ile16095Thr)
c.48203T>C (p.Ile16068Thr)
c.29966T>C (p.Ile9989Thr)
c.19820T>C (p.Ile6607Thr)
2g.178598546A>TCA349523837TTN,TTN-AS1c.49367T>A (p.Ile16456Asn)
c.30452T>A (p.Ile10151Asn)
c.30251T>A (p.Ile10084Asn)
c.29876T>A (p.Ile9959Asn)
c.57071T>A (p.Ile19024Asn)
c.52148T>A (p.Ile17383Asn)
n.682+865A>T
n.3451-10A>T
c.56168T>A (p.Ile18723Asn)
c.30062T>A (p.Ile10021Asn)
c.29921T>A (p.Ile9974Asn)
c.55964T>A (p.Ile18655Asn)
c.51362T>A (p.Ile17121Asn)
c.51359T>A (p.Ile17120Asn)
c.48401T>A (p.Ile16134Asn)
c.30017T>A (p.Ile10006Asn)
c.51512T>A (p.Ile17171Asn)
c.51509T>A (p.Ile17170Asn)
c.50942T>A (p.Ile16981Asn)
c.48284T>A (p.Ile16095Asn)
c.48203T>A (p.Ile16068Asn)
c.29966T>A (p.Ile9989Asn)
c.19820T>A (p.Ile6607Asn)
2g.178598547T>ACA349523838TTN,TTN-AS1c.49366A>T (p.Ile16456Phe)
c.30451A>T (p.Ile10151Phe)
c.30250A>T (p.Ile10084Phe)
c.29875A>T (p.Ile9959Phe)
c.57070A>T (p.Ile19024Phe)
c.52147A>T (p.Ile17383Phe)
n.682+866T>A
n.3451-9T>A
c.56167A>T (p.Ile18723Phe)
c.30061A>T (p.Ile10021Phe)
c.29920A>T (p.Ile9974Phe)
c.55963A>T (p.Ile18655Phe)
c.51361A>T (p.Ile17121Phe)
c.51358A>T (p.Ile17120Phe)
c.48400A>T (p.Ile16134Phe)
c.30016A>T (p.Ile10006Phe)
c.51511A>T (p.Ile17171Phe)
c.51508A>T (p.Ile17170Phe)
c.50941A>T (p.Ile16981Phe)
c.48283A>T (p.Ile16095Phe)
c.48202A>T (p.Ile16068Phe)
c.29965A>T (p.Ile9989Phe)
c.19819A>T (p.Ile6607Phe)
2g.178598547T>CCA10576512TTN,TTN-AS1c.49366A>G (p.Ile16456Val)
c.30451A>G (p.Ile10151Val)
c.30250A>G (p.Ile10084Val)
c.29875A>G (p.Ile9959Val)
c.57070A>G (p.Ile19024Val)
c.52147A>G (p.Ile17383Val)
n.682+866T>C
n.3451-9T>C
c.56167A>G (p.Ile18723Val)
c.30061A>G (p.Ile10021Val)
c.29920A>G (p.Ile9974Val)
c.55963A>G (p.Ile18655Val)
c.51361A>G (p.Ile17121Val)
c.51358A>G (p.Ile17120Val)
c.48400A>G (p.Ile16134Val)
c.30016A>G (p.Ile10006Val)
c.51511A>G (p.Ile17171Val)
c.51508A>G (p.Ile17170Val)
c.50941A>G (p.Ile16981Val)
c.48283A>G (p.Ile16095Val)
c.48202A>G (p.Ile16068Val)
c.29965A>G (p.Ile9989Val)
c.19819A>G (p.Ile6607Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178598547T>GCA349523839TTN,TTN-AS1c.49366A>C (p.Ile16456Leu)
c.30451A>C (p.Ile10151Leu)
c.30250A>C (p.Ile10084Leu)
c.29875A>C (p.Ile9959Leu)
c.57070A>C (p.Ile19024Leu)
c.52147A>C (p.Ile17383Leu)
n.682+866T>G
n.3451-9T>G
c.56167A>C (p.Ile18723Leu)
c.30061A>C (p.Ile10021Leu)
c.29920A>C (p.Ile9974Leu)
c.55963A>C (p.Ile18655Leu)
c.51361A>C (p.Ile17121Leu)
c.51358A>C (p.Ile17120Leu)
c.48400A>C (p.Ile16134Leu)
c.30016A>C (p.Ile10006Leu)
c.51511A>C (p.Ile17171Leu)
c.51508A>C (p.Ile17170Leu)
c.50941A>C (p.Ile16981Leu)
c.48283A>C (p.Ile16095Leu)
c.48202A>C (p.Ile16068Leu)
c.29965A>C (p.Ile9989Leu)
c.19819A>C (p.Ile6607Leu)
 dbSNP
2g.178598547T=CA1310542807TTN,TTN-AS1c.49366A= (p.Ile16456=)
c.30451A= (p.Ile10151=)
c.30250A= (p.Ile10084=)
c.29875A= (p.Ile9959=)
c.57070A= (p.Ile19024=)
c.52147A= (p.Ile17383=)
n.682+866T=
n.3451-9T=
c.56167A= (p.Ile18723=)
c.30061A= (p.Ile10021=)
c.29920A= (p.Ile9974=)
c.55963A= (p.Ile18655=)
c.51361A= (p.Ile17121=)
c.51358A= (p.Ile17120=)
c.48400A= (p.Ile16134=)
c.30016A= (p.Ile10006=)
c.51511A= (p.Ile17171=)
c.51508A= (p.Ile17170=)
c.50941A= (p.Ile16981=)
c.48283A= (p.Ile16095=)
c.48202A= (p.Ile16068=)
c.29965A= (p.Ile9989=)
c.19819A= (p.Ile6607=)
2g.178598548G>ACA430099118TTN,TTN-AS1c.49365C>T (p.Tyr16455=)
c.30450C>T (p.Tyr10150=)
c.30249C>T (p.Tyr10083=)
c.29874C>T (p.Tyr9958=)
c.57069C>T (p.Tyr19023=)
c.52146C>T (p.Tyr17382=)
n.682+867G>A
n.3451-8G>A
c.56166C>T (p.Tyr18722=)
c.30060C>T (p.Tyr10020=)
c.29919C>T (p.Tyr9973=)
c.55962C>T (p.Tyr18654=)
c.51360C>T (p.Tyr17120=)
c.51357C>T (p.Tyr17119=)
c.48399C>T (p.Tyr16133=)
c.30015C>T (p.Tyr10005=)
c.51510C>T (p.Tyr17170=)
c.51507C>T (p.Tyr17169=)
c.50940C>T (p.Tyr16980=)
c.48282C>T (p.Tyr16094=)
c.48201C>T (p.Tyr16067=)
c.29964C>T (p.Tyr9988=)
c.19818C>T (p.Tyr6606=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178598548G>CCA349523842TTN,TTN-AS1c.49365C>G (p.Tyr16455Ter)
c.30450C>G (p.Tyr10150Ter)
c.30249C>G (p.Tyr10083Ter)
c.29874C>G (p.Tyr9958Ter)
c.57069C>G (p.Tyr19023Ter)
c.52146C>G (p.Tyr17382Ter)
n.682+867G>C
n.3451-8G>C
c.56166C>G (p.Tyr18722Ter)
c.30060C>G (p.Tyr10020Ter)
c.29919C>G (p.Tyr9973Ter)
c.55962C>G (p.Tyr18654Ter)
c.51360C>G (p.Tyr17120Ter)
c.51357C>G (p.Tyr17119Ter)
c.48399C>G (p.Tyr16133Ter)
c.30015C>G (p.Tyr10005Ter)
c.51510C>G (p.Tyr17170Ter)
c.51507C>G (p.Tyr17169Ter)
c.50940C>G (p.Tyr16980Ter)
c.48282C>G (p.Tyr16094Ter)
c.48201C>G (p.Tyr16067Ter)
c.29964C>G (p.Tyr9988Ter)
c.19818C>G (p.Tyr6606Ter)
 ClinVar
2g.178598548G=CA1310542808TTN,TTN-AS1c.49365C= (p.Tyr16455=)
c.30450C= (p.Tyr10150=)
c.30249C= (p.Tyr10083=)
c.29874C= (p.Tyr9958=)
c.57069C= (p.Tyr19023=)
c.52146C= (p.Tyr17382=)
n.682+867G=
n.3451-8G=
c.56166C= (p.Tyr18722=)
c.30060C= (p.Tyr10020=)
c.29919C= (p.Tyr9973=)
c.55962C= (p.Tyr18654=)
c.51360C= (p.Tyr17120=)
c.51357C= (p.Tyr17119=)
c.48399C= (p.Tyr16133=)
c.30015C= (p.Tyr10005=)
c.51510C= (p.Tyr17170=)
c.51507C= (p.Tyr17169=)
c.50940C= (p.Tyr16980=)
c.48282C= (p.Tyr16094=)
c.48201C= (p.Tyr16067=)
c.29964C= (p.Tyr9988=)
c.19818C= (p.Tyr6606=)
2g.178598548G>TCA349523841TTN,TTN-AS1c.49365C>A (p.Tyr16455Ter)
c.30450C>A (p.Tyr10150Ter)
c.30249C>A (p.Tyr10083Ter)
c.29874C>A (p.Tyr9958Ter)
c.57069C>A (p.Tyr19023Ter)
c.52146C>A (p.Tyr17382Ter)
n.682+867G>T
n.3451-8G>T
c.56166C>A (p.Tyr18722Ter)
c.30060C>A (p.Tyr10020Ter)
c.29919C>A (p.Tyr9973Ter)
c.55962C>A (p.Tyr18654Ter)
c.51360C>A (p.Tyr17120Ter)
c.51357C>A (p.Tyr17119Ter)
c.48399C>A (p.Tyr16133Ter)
c.30015C>A (p.Tyr10005Ter)
c.51510C>A (p.Tyr17170Ter)
c.51507C>A (p.Tyr17169Ter)
c.50940C>A (p.Tyr16980Ter)
c.48282C>A (p.Tyr16094Ter)
c.48201C>A (p.Tyr16067Ter)
c.29964C>A (p.Tyr9988Ter)
c.19818C>A (p.Tyr6606Ter)
2g.178598549T>ACA349523843TTN,TTN-AS1c.49364A>T (p.Tyr16455Phe)
c.30449A>T (p.Tyr10150Phe)
c.30248A>T (p.Tyr10083Phe)
c.29873A>T (p.Tyr9958Phe)
c.57068A>T (p.Tyr19023Phe)
c.52145A>T (p.Tyr17382Phe)
n.682+868T>A
n.3451-7T>A
c.56165A>T (p.Tyr18722Phe)
c.30059A>T (p.Tyr10020Phe)
c.29918A>T (p.Tyr9973Phe)
c.55961A>T (p.Tyr18654Phe)
c.51359A>T (p.Tyr17120Phe)
c.51356A>T (p.Tyr17119Phe)
c.48398A>T (p.Tyr16133Phe)
c.30014A>T (p.Tyr10005Phe)
c.51509A>T (p.Tyr17170Phe)
c.51506A>T (p.Tyr17169Phe)
c.50939A>T (p.Tyr16980Phe)
c.48281A>T (p.Tyr16094Phe)
c.48200A>T (p.Tyr16067Phe)
c.29963A>T (p.Tyr9988Phe)
c.19817A>T (p.Tyr6606Phe)
2g.178598549T>CCA349523845TTN,TTN-AS1c.49364A>G (p.Tyr16455Cys)
c.30449A>G (p.Tyr10150Cys)
c.30248A>G (p.Tyr10083Cys)
c.29873A>G (p.Tyr9958Cys)
c.57068A>G (p.Tyr19023Cys)
c.52145A>G (p.Tyr17382Cys)
n.682+868T>C
n.3451-7T>C
c.56165A>G (p.Tyr18722Cys)
c.30059A>G (p.Tyr10020Cys)
c.29918A>G (p.Tyr9973Cys)
c.55961A>G (p.Tyr18654Cys)
c.51359A>G (p.Tyr17120Cys)
c.51356A>G (p.Tyr17119Cys)
c.48398A>G (p.Tyr16133Cys)
c.30014A>G (p.Tyr10005Cys)
c.51509A>G (p.Tyr17170Cys)
c.51506A>G (p.Tyr17169Cys)
c.50939A>G (p.Tyr16980Cys)
c.48281A>G (p.Tyr16094Cys)
c.48200A>G (p.Tyr16067Cys)
c.29963A>G (p.Tyr9988Cys)
c.19817A>G (p.Tyr6606Cys)
2g.178598549T>GCA349523848TTN,TTN-AS1c.49364A>C (p.Tyr16455Ser)
c.30449A>C (p.Tyr10150Ser)
c.30248A>C (p.Tyr10083Ser)
c.29873A>C (p.Tyr9958Ser)
c.57068A>C (p.Tyr19023Ser)
c.52145A>C (p.Tyr17382Ser)
n.682+868T>G
n.3451-7T>G
c.56165A>C (p.Tyr18722Ser)
c.30059A>C (p.Tyr10020Ser)
c.29918A>C (p.Tyr9973Ser)
c.55961A>C (p.Tyr18654Ser)
c.51359A>C (p.Tyr17120Ser)
c.51356A>C (p.Tyr17119Ser)
c.48398A>C (p.Tyr16133Ser)
c.30014A>C (p.Tyr10005Ser)
c.51509A>C (p.Tyr17170Ser)
c.51506A>C (p.Tyr17169Ser)
c.50939A>C (p.Tyr16980Ser)
c.48281A>C (p.Tyr16094Ser)
c.48200A>C (p.Tyr16067Ser)
c.29963A>C (p.Tyr9988Ser)
c.19817A>C (p.Tyr6606Ser)
2g.178598550A=CA1310542809TTN,TTN-AS1c.49363T= (p.Tyr16455=)
c.30448T= (p.Tyr10150=)
c.30247T= (p.Tyr10083=)
c.29872T= (p.Tyr9958=)
c.57067T= (p.Tyr19023=)
c.52144T= (p.Tyr17382=)
n.682+869A=
n.3451-6A=
c.56164T= (p.Tyr18722=)
c.30058T= (p.Tyr10020=)
c.29917T= (p.Tyr9973=)
c.55960T= (p.Tyr18654=)
c.51358T= (p.Tyr17120=)
c.51355T= (p.Tyr17119=)
c.48397T= (p.Tyr16133=)
c.30013T= (p.Tyr10005=)
c.51508T= (p.Tyr17170=)
c.51505T= (p.Tyr17169=)
c.50938T= (p.Tyr16980=)
c.48280T= (p.Tyr16094=)
c.48199T= (p.Tyr16067=)
c.29962T= (p.Tyr9988=)
c.19816T= (p.Tyr6606=)
2g.178598550A>CCA349523852TTN,TTN-AS1c.49363T>G (p.Tyr16455Asp)
c.30448T>G (p.Tyr10150Asp)
c.30247T>G (p.Tyr10083Asp)
c.29872T>G (p.Tyr9958Asp)
c.57067T>G (p.Tyr19023Asp)
c.52144T>G (p.Tyr17382Asp)
n.682+869A>C
n.3451-6A>C
c.56164T>G (p.Tyr18722Asp)
c.30058T>G (p.Tyr10020Asp)
c.29917T>G (p.Tyr9973Asp)
c.55960T>G (p.Tyr18654Asp)
c.51358T>G (p.Tyr17120Asp)
c.51355T>G (p.Tyr17119Asp)
c.48397T>G (p.Tyr16133Asp)
c.30013T>G (p.Tyr10005Asp)
c.51508T>G (p.Tyr17170Asp)
c.51505T>G (p.Tyr17169Asp)
c.50938T>G (p.Tyr16980Asp)
c.48280T>G (p.Tyr16094Asp)
c.48199T>G (p.Tyr16067Asp)
c.29962T>G (p.Tyr9988Asp)
c.19816T>G (p.Tyr6606Asp)
 gnomAD v4
2g.178598550A>GCA349523856TTN,TTN-AS1c.49363T>C (p.Tyr16455His)
c.30448T>C (p.Tyr10150His)
c.30247T>C (p.Tyr10083His)
c.29872T>C (p.Tyr9958His)
c.57067T>C (p.Tyr19023His)
c.52144T>C (p.Tyr17382His)
n.682+869A>G
n.3451-6A>G
c.56164T>C (p.Tyr18722His)
c.30058T>C (p.Tyr10020His)
c.29917T>C (p.Tyr9973His)
c.55960T>C (p.Tyr18654His)
c.51358T>C (p.Tyr17120His)
c.51355T>C (p.Tyr17119His)
c.48397T>C (p.Tyr16133His)
c.30013T>C (p.Tyr10005His)
c.51508T>C (p.Tyr17170His)
c.51505T>C (p.Tyr17169His)
c.50938T>C (p.Tyr16980His)
c.48280T>C (p.Tyr16094His)
c.48199T>C (p.Tyr16067His)
c.29962T>C (p.Tyr9988His)
c.19816T>C (p.Tyr6606His)
2g.178598550A>TCA1993117TTN,TTN-AS1c.49363T>A (p.Tyr16455Asn)
c.30448T>A (p.Tyr10150Asn)
c.30247T>A (p.Tyr10083Asn)
c.29872T>A (p.Tyr9958Asn)
c.57067T>A (p.Tyr19023Asn)
c.52144T>A (p.Tyr17382Asn)
n.682+869A>T
n.3451-6A>T
c.56164T>A (p.Tyr18722Asn)
c.30058T>A (p.Tyr10020Asn)
c.29917T>A (p.Tyr9973Asn)
c.55960T>A (p.Tyr18654Asn)
c.51358T>A (p.Tyr17120Asn)
c.51355T>A (p.Tyr17119Asn)
c.48397T>A (p.Tyr16133Asn)
c.30013T>A (p.Tyr10005Asn)
c.51508T>A (p.Tyr17170Asn)
c.51505T>A (p.Tyr17169Asn)
c.50938T>A (p.Tyr16980Asn)
c.48280T>A (p.Tyr16094Asn)
c.48199T>A (p.Tyr16067Asn)
c.29962T>A (p.Tyr9988Asn)
c.19816T>A (p.Tyr6606Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178598551T>ACA430099135TTN,TTN-AS1c.49362A>T (p.Gly16454=)
c.30447A>T (p.Gly10149=)
c.30246A>T (p.Gly10082=)
c.29871A>T (p.Gly9957=)
c.57066A>T (p.Gly19022=)
c.52143A>T (p.Gly17381=)
n.682+870T>A
n.3451-5T>A
c.56163A>T (p.Gly18721=)
c.30057A>T (p.Gly10019=)
c.29916A>T (p.Gly9972=)
c.55959A>T (p.Gly18653=)
c.51357A>T (p.Gly17119=)
c.51354A>T (p.Gly17118=)
c.48396A>T (p.Gly16132=)
c.30012A>T (p.Gly10004=)
c.51507A>T (p.Gly17169=)
c.51504A>T (p.Gly17168=)
c.50937A>T (p.Gly16979=)
c.48279A>T (p.Gly16093=)
c.48198A>T (p.Gly16066=)
c.29961A>T (p.Gly9987=)
c.19815A>T (p.Gly6605=)
2g.178598551T>CCA430099137TTN,TTN-AS1c.49362A>G (p.Gly16454=)
c.30447A>G (p.Gly10149=)
c.30246A>G (p.Gly10082=)
c.29871A>G (p.Gly9957=)
c.57066A>G (p.Gly19022=)
c.52143A>G (p.Gly17381=)
n.682+870T>C
n.3451-5T>C
c.56163A>G (p.Gly18721=)
c.30057A>G (p.Gly10019=)
c.29916A>G (p.Gly9972=)
c.55959A>G (p.Gly18653=)
c.51357A>G (p.Gly17119=)
c.51354A>G (p.Gly17118=)
c.48396A>G (p.Gly16132=)
c.30012A>G (p.Gly10004=)
c.51507A>G (p.Gly17169=)
c.51504A>G (p.Gly17168=)
c.50937A>G (p.Gly16979=)
c.48279A>G (p.Gly16093=)
c.48198A>G (p.Gly16066=)
c.29961A>G (p.Gly9987=)
c.19815A>G (p.Gly6605=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178598551T>GCA430099140TTN,TTN-AS1c.49362A>C (p.Gly16454=)
c.30447A>C (p.Gly10149=)
c.30246A>C (p.Gly10082=)
c.29871A>C (p.Gly9957=)
c.57066A>C (p.Gly19022=)
c.52143A>C (p.Gly17381=)
n.682+870T>G
n.3451-5T>G
c.56163A>C (p.Gly18721=)
c.30057A>C (p.Gly10019=)
c.29916A>C (p.Gly9972=)
c.55959A>C (p.Gly18653=)
c.51357A>C (p.Gly17119=)
c.51354A>C (p.Gly17118=)
c.48396A>C (p.Gly16132=)
c.30012A>C (p.Gly10004=)
c.51507A>C (p.Gly17169=)
c.51504A>C (p.Gly17168=)
c.50937A>C (p.Gly16979=)
c.48279A>C (p.Gly16093=)
c.48198A>C (p.Gly16066=)
c.29961A>C (p.Gly9987=)
c.19815A>C (p.Gly6605=)
2g.178598551T=CA1310542810TTN,TTN-AS1c.49362A= (p.Gly16454=)
c.30447A= (p.Gly10149=)
c.30246A= (p.Gly10082=)
c.29871A= (p.Gly9957=)
c.57066A= (p.Gly19022=)
c.52143A= (p.Gly17381=)
n.682+870T=
n.3451-5T=
c.56163A= (p.Gly18721=)
c.30057A= (p.Gly10019=)
c.29916A= (p.Gly9972=)
c.55959A= (p.Gly18653=)
c.51357A= (p.Gly17119=)
c.51354A= (p.Gly17118=)
c.48396A= (p.Gly16132=)
c.30012A= (p.Gly10004=)
c.51507A= (p.Gly17169=)
c.51504A= (p.Gly17168=)
c.50937A= (p.Gly16979=)
c.48279A= (p.Gly16093=)
c.48198A= (p.Gly16066=)
c.29961A= (p.Gly9987=)
c.19815A= (p.Gly6605=)
2g.178598552C>ACA349523869TTN,TTN-AS1c.49361G>T (p.Gly16454Val)
c.30446G>T (p.Gly10149Val)
c.30245G>T (p.Gly10082Val)
c.29870G>T (p.Gly9957Val)
c.57065G>T (p.Gly19022Val)
c.52142G>T (p.Gly17381Val)
n.682+871C>A
n.3451-4C>A
c.56162G>T (p.Gly18721Val)
c.30056G>T (p.Gly10019Val)
c.29915G>T (p.Gly9972Val)
c.55958G>T (p.Gly18653Val)
c.51356G>T (p.Gly17119Val)
c.51353G>T (p.Gly17118Val)
c.48395G>T (p.Gly16132Val)
c.30011G>T (p.Gly10004Val)
c.51506G>T (p.Gly17169Val)
c.51503G>T (p.Gly17168Val)
c.50936G>T (p.Gly16979Val)
c.48278G>T (p.Gly16093Val)
c.48197G>T (p.Gly16066Val)
c.29960G>T (p.Gly9987Val)
c.19814G>T (p.Gly6605Val)
2g.178598552C>GCA349523864TTN,TTN-AS1c.49361G>C (p.Gly16454Ala)
c.30446G>C (p.Gly10149Ala)
c.30245G>C (p.Gly10082Ala)
c.29870G>C (p.Gly9957Ala)
c.57065G>C (p.Gly19022Ala)
c.52142G>C (p.Gly17381Ala)
n.682+871C>G
n.3451-4C>G
c.56162G>C (p.Gly18721Ala)
c.30056G>C (p.Gly10019Ala)
c.29915G>C (p.Gly9972Ala)
c.55958G>C (p.Gly18653Ala)
c.51356G>C (p.Gly17119Ala)
c.51353G>C (p.Gly17118Ala)
c.48395G>C (p.Gly16132Ala)
c.30011G>C (p.Gly10004Ala)
c.51506G>C (p.Gly17169Ala)
c.51503G>C (p.Gly17168Ala)
c.50936G>C (p.Gly16979Ala)
c.48278G>C (p.Gly16093Ala)
c.48197G>C (p.Gly16066Ala)
c.29960G>C (p.Gly9987Ala)
c.19814G>C (p.Gly6605Ala)
2g.178598552C>TCA349523866TTN,TTN-AS1c.49361G>A (p.Gly16454Glu)
c.30446G>A (p.Gly10149Glu)
c.30245G>A (p.Gly10082Glu)
c.29870G>A (p.Gly9957Glu)
c.57065G>A (p.Gly19022Glu)
c.52142G>A (p.Gly17381Glu)
n.682+871C>T
n.3451-4C>T
c.56162G>A (p.Gly18721Glu)
c.30056G>A (p.Gly10019Glu)
c.29915G>A (p.Gly9972Glu)
c.55958G>A (p.Gly18653Glu)
c.51356G>A (p.Gly17119Glu)
c.51353G>A (p.Gly17118Glu)
c.48395G>A (p.Gly16132Glu)
c.30011G>A (p.Gly10004Glu)
c.51506G>A (p.Gly17169Glu)
c.51503G>A (p.Gly17168Glu)
c.50936G>A (p.Gly16979Glu)
c.48278G>A (p.Gly16093Glu)
c.48197G>A (p.Gly16066Glu)
c.29960G>A (p.Gly9987Glu)
c.19814G>A (p.Gly6605Glu)
2g.178598553C>ACA349523873TTN,TTN-AS1c.49360G>T (p.Gly16454Ter)
c.30445G>T (p.Gly10149Ter)
c.30244G>T (p.Gly10082Ter)
c.29869G>T (p.Gly9957Ter)
c.57064G>T (p.Gly19022Ter)
c.52141G>T (p.Gly17381Ter)
n.682+872C>A
n.3451-3C>A
c.56161G>T (p.Gly18721Ter)
c.30055G>T (p.Gly10019Ter)
c.29914G>T (p.Gly9972Ter)
c.55957G>T (p.Gly18653Ter)
c.51355G>T (p.Gly17119Ter)
c.51352G>T (p.Gly17118Ter)
c.48394G>T (p.Gly16132Ter)
c.30010G>T (p.Gly10004Ter)
c.51505G>T (p.Gly17169Ter)
c.51502G>T (p.Gly17168Ter)
c.50935G>T (p.Gly16979Ter)
c.48277G>T (p.Gly16093Ter)
c.48196G>T (p.Gly16066Ter)
c.29959G>T (p.Gly9987Ter)
c.19813G>T (p.Gly6605Ter)
2g.178598553C>GCA349523875TTN,TTN-AS1c.49360G>C (p.Gly16454Arg)
c.30445G>C (p.Gly10149Arg)
c.30244G>C (p.Gly10082Arg)
c.29869G>C (p.Gly9957Arg)
c.57064G>C (p.Gly19022Arg)
c.52141G>C (p.Gly17381Arg)
n.682+872C>G
n.3451-3C>G
c.56161G>C (p.Gly18721Arg)
c.30055G>C (p.Gly10019Arg)
c.29914G>C (p.Gly9972Arg)
c.55957G>C (p.Gly18653Arg)
c.51355G>C (p.Gly17119Arg)
c.51352G>C (p.Gly17118Arg)
c.48394G>C (p.Gly16132Arg)
c.30010G>C (p.Gly10004Arg)
c.51505G>C (p.Gly17169Arg)
c.51502G>C (p.Gly17168Arg)
c.50935G>C (p.Gly16979Arg)
c.48277G>C (p.Gly16093Arg)
c.48196G>C (p.Gly16066Arg)
c.29959G>C (p.Gly9987Arg)
c.19813G>C (p.Gly6605Arg)
2g.178598553C>TCA349523877TTN,TTN-AS1c.49360G>A (p.Gly16454Arg)
c.30445G>A (p.Gly10149Arg)
c.30244G>A (p.Gly10082Arg)
c.29869G>A (p.Gly9957Arg)
c.57064G>A (p.Gly19022Arg)
c.52141G>A (p.Gly17381Arg)
n.682+872C>T
n.3451-3C>T
c.56161G>A (p.Gly18721Arg)
c.30055G>A (p.Gly10019Arg)
c.29914G>A (p.Gly9972Arg)
c.55957G>A (p.Gly18653Arg)
c.51355G>A (p.Gly17119Arg)
c.51352G>A (p.Gly17118Arg)
c.48394G>A (p.Gly16132Arg)
c.30010G>A (p.Gly10004Arg)
c.51505G>A (p.Gly17169Arg)
c.51502G>A (p.Gly17168Arg)
c.50935G>A (p.Gly16979Arg)
c.48277G>A (p.Gly16093Arg)
c.48196G>A (p.Gly16066Arg)
c.29959G>A (p.Gly9987Arg)
c.19813G>A (p.Gly6605Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178598554A>CCA430099160TTN,TTN-AS1c.49359T>G (p.Thr16453=)
c.30444T>G (p.Thr10148=)
c.30243T>G (p.Thr10081=)
c.29868T>G (p.Thr9956=)
c.57063T>G (p.Thr19021=)
c.52140T>G (p.Thr17380=)
n.682+873A>C
n.3451-2A>C
c.56160T>G (p.Thr18720=)
c.30054T>G (p.Thr10018=)
c.29913T>G (p.Thr9971=)
c.55956T>G (p.Thr18652=)
c.51354T>G (p.Thr17118=)
c.51351T>G (p.Thr17117=)
c.48393T>G (p.Thr16131=)
c.30009T>G (p.Thr10003=)
c.51504T>G (p.Thr17168=)
c.51501T>G (p.Thr17167=)
c.50934T>G (p.Thr16978=)
c.48276T>G (p.Thr16092=)
c.48195T>G (p.Thr16065=)
c.29958T>G (p.Thr9986=)
c.19812T>G (p.Thr6604=)
 gnomAD v4
2g.178598554A>GCA430099158TTN,TTN-AS1c.49359T>C (p.Thr16453=)
c.30444T>C (p.Thr10148=)
c.30243T>C (p.Thr10081=)
c.29868T>C (p.Thr9956=)
c.57063T>C (p.Thr19021=)
c.52140T>C (p.Thr17380=)
n.682+873A>G
n.3451-2A>G
c.56160T>C (p.Thr18720=)
c.30054T>C (p.Thr10018=)
c.29913T>C (p.Thr9971=)
c.55956T>C (p.Thr18652=)
c.51354T>C (p.Thr17118=)
c.51351T>C (p.Thr17117=)
c.48393T>C (p.Thr16131=)
c.30009T>C (p.Thr10003=)
c.51504T>C (p.Thr17168=)
c.51501T>C (p.Thr17167=)
c.50934T>C (p.Thr16978=)
c.48276T>C (p.Thr16092=)
c.48195T>C (p.Thr16065=)
c.29958T>C (p.Thr9986=)
c.19812T>C (p.Thr6604=)
 ClinVar dbSNP
2g.178598554A>TCA430099155TTN,TTN-AS1c.49359T>A (p.Thr16453=)
c.30444T>A (p.Thr10148=)
c.30243T>A (p.Thr10081=)
c.29868T>A (p.Thr9956=)
c.57063T>A (p.Thr19021=)
c.52140T>A (p.Thr17380=)
n.682+873A>T
n.3451-2A>T
c.56160T>A (p.Thr18720=)
c.30054T>A (p.Thr10018=)
c.29913T>A (p.Thr9971=)
c.55956T>A (p.Thr18652=)
c.51354T>A (p.Thr17118=)
c.51351T>A (p.Thr17117=)
c.48393T>A (p.Thr16131=)
c.30009T>A (p.Thr10003=)
c.51504T>A (p.Thr17168=)
c.51501T>A (p.Thr17167=)
c.50934T>A (p.Thr16978=)
c.48276T>A (p.Thr16092=)
c.48195T>A (p.Thr16065=)
c.29958T>A (p.Thr9986=)
c.19812T>A (p.Thr6604=)
 gnomAD v4
2g.178598555G>ACA349523880TTN,TTN-AS1c.49358C>T (p.Thr16453Ile)
c.30443C>T (p.Thr10148Ile)
c.30242C>T (p.Thr10081Ile)
c.29867C>T (p.Thr9956Ile)
c.57062C>T (p.Thr19021Ile)
c.52139C>T (p.Thr17380Ile)
n.682+874G>A
n.3451-1G>A
c.56159C>T (p.Thr18720Ile)
c.30053C>T (p.Thr10018Ile)
c.29912C>T (p.Thr9971Ile)
c.55955C>T (p.Thr18652Ile)
c.51353C>T (p.Thr17118Ile)
c.51350C>T (p.Thr17117Ile)
c.48392C>T (p.Thr16131Ile)
c.30008C>T (p.Thr10003Ile)
c.51503C>T (p.Thr17168Ile)
c.51500C>T (p.Thr17167Ile)
c.50933C>T (p.Thr16978Ile)
c.48275C>T (p.Thr16092Ile)
c.48194C>T (p.Thr16065Ile)
c.29957C>T (p.Thr9986Ile)
c.19811C>T (p.Thr6604Ile)
2g.178598555G>CCA349523890TTN,TTN-AS1c.49358C>G (p.Thr16453Ser)
c.30443C>G (p.Thr10148Ser)
c.30242C>G (p.Thr10081Ser)
c.29867C>G (p.Thr9956Ser)
c.57062C>G (p.Thr19021Ser)
c.52139C>G (p.Thr17380Ser)
n.682+874G>C
n.3451-1G>C
c.56159C>G (p.Thr18720Ser)
c.30053C>G (p.Thr10018Ser)
c.29912C>G (p.Thr9971Ser)
c.55955C>G (p.Thr18652Ser)
c.51353C>G (p.Thr17118Ser)
c.51350C>G (p.Thr17117Ser)
c.48392C>G (p.Thr16131Ser)
c.30008C>G (p.Thr10003Ser)
c.51503C>G (p.Thr17168Ser)
c.51500C>G (p.Thr17167Ser)
c.50933C>G (p.Thr16978Ser)
c.48275C>G (p.Thr16092Ser)
c.48194C>G (p.Thr16065Ser)
c.29957C>G (p.Thr9986Ser)
c.19811C>G (p.Thr6604Ser)
2g.178598555G>TCA349523891TTN,TTN-AS1c.49358C>A (p.Thr16453Asn)
c.30443C>A (p.Thr10148Asn)
c.30242C>A (p.Thr10081Asn)
c.29867C>A (p.Thr9956Asn)
c.57062C>A (p.Thr19021Asn)
c.52139C>A (p.Thr17380Asn)
n.682+874G>T
n.3451-1G>T
c.56159C>A (p.Thr18720Asn)
c.30053C>A (p.Thr10018Asn)
c.29912C>A (p.Thr9971Asn)
c.55955C>A (p.Thr18652Asn)
c.51353C>A (p.Thr17118Asn)
c.51350C>A (p.Thr17117Asn)
c.48392C>A (p.Thr16131Asn)
c.30008C>A (p.Thr10003Asn)
c.51503C>A (p.Thr17168Asn)
c.51500C>A (p.Thr17167Asn)
c.50933C>A (p.Thr16978Asn)
c.48275C>A (p.Thr16092Asn)
c.48194C>A (p.Thr16065Asn)
c.29957C>A (p.Thr9986Asn)
c.19811C>A (p.Thr6604Asn)
2g.178598556T>ACA349523894TTN,TTN-AS1c.49357A>T (p.Thr16453Ser)
c.30442A>T (p.Thr10148Ser)
c.30241A>T (p.Thr10081Ser)
c.29866A>T (p.Thr9956Ser)
c.57061A>T (p.Thr19021Ser)
c.52138A>T (p.Thr17380Ser)
n.682+875T>A
n.3451T>A
c.56158A>T (p.Thr18720Ser)
c.30052A>T (p.Thr10018Ser)
c.29911A>T (p.Thr9971Ser)
c.55954A>T (p.Thr18652Ser)
c.51352A>T (p.Thr17118Ser)
c.51349A>T (p.Thr17117Ser)
c.48391A>T (p.Thr16131Ser)
c.30007A>T (p.Thr10003Ser)
c.51502A>T (p.Thr17168Ser)
c.51499A>T (p.Thr17167Ser)
c.50932A>T (p.Thr16978Ser)
c.48274A>T (p.Thr16092Ser)
c.48193A>T (p.Thr16065Ser)
c.29956A>T (p.Thr9986Ser)
c.19810A>T (p.Thr6604Ser)
2g.178598556T>CCA349523895TTN,TTN-AS1c.49357A>G (p.Thr16453Ala)
c.30442A>G (p.Thr10148Ala)
c.30241A>G (p.Thr10081Ala)
c.29866A>G (p.Thr9956Ala)
c.57061A>G (p.Thr19021Ala)
c.52138A>G (p.Thr17380Ala)
n.682+875T>C
n.3451T>C
c.56158A>G (p.Thr18720Ala)
c.30052A>G (p.Thr10018Ala)
c.29911A>G (p.Thr9971Ala)
c.55954A>G (p.Thr18652Ala)
c.51352A>G (p.Thr17118Ala)
c.51349A>G (p.Thr17117Ala)
c.48391A>G (p.Thr16131Ala)
c.30007A>G (p.Thr10003Ala)
c.51502A>G (p.Thr17168Ala)
c.51499A>G (p.Thr17167Ala)
c.50932A>G (p.Thr16978Ala)
c.48274A>G (p.Thr16092Ala)
c.48193A>G (p.Thr16065Ala)
c.29956A>G (p.Thr9986Ala)
c.19810A>G (p.Thr6604Ala)
2g.178598556T>GCA349523896TTN,TTN-AS1c.49357A>C (p.Thr16453Pro)
c.30442A>C (p.Thr10148Pro)
c.30241A>C (p.Thr10081Pro)
c.29866A>C (p.Thr9956Pro)
c.57061A>C (p.Thr19021Pro)
c.52138A>C (p.Thr17380Pro)
n.682+875T>G
n.3451T>G
c.56158A>C (p.Thr18720Pro)
c.30052A>C (p.Thr10018Pro)
c.29911A>C (p.Thr9971Pro)
c.55954A>C (p.Thr18652Pro)
c.51352A>C (p.Thr17118Pro)
c.51349A>C (p.Thr17117Pro)
c.48391A>C (p.Thr16131Pro)
c.30007A>C (p.Thr10003Pro)
c.51502A>C (p.Thr17168Pro)
c.51499A>C (p.Thr17167Pro)
c.50932A>C (p.Thr16978Pro)
c.48274A>C (p.Thr16092Pro)
c.48193A>C (p.Thr16065Pro)
c.29956A>C (p.Thr9986Pro)
c.19810A>C (p.Thr6604Pro)
2g.178598557T>ACA430099180TTN,TTN-AS1c.49356A>T (p.Val16452=)
c.30441A>T (p.Val10147=)
c.30240A>T (p.Val10080=)
c.29865A>T (p.Val9955=)
c.57060A>T (p.Val19020=)
c.52137A>T (p.Val17379=)
n.682+876T>A
n.3452T>A
c.56157A>T (p.Val18719=)
c.30051A>T (p.Val10017=)
c.29910A>T (p.Val9970=)
c.55953A>T (p.Val18651=)
c.51351A>T (p.Val17117=)
c.51348A>T (p.Val17116=)
c.48390A>T (p.Val16130=)
c.30006A>T (p.Val10002=)
c.51501A>T (p.Val17167=)
c.51498A>T (p.Val17166=)
c.50931A>T (p.Val16977=)
c.48273A>T (p.Val16091=)
c.48192A>T (p.Val16064=)
c.29955A>T (p.Val9985=)
c.19809A>T (p.Val6603=)
2g.178598557T>CCA430099178TTN,TTN-AS1c.49356A>G (p.Val16452=)
c.30441A>G (p.Val10147=)
c.30240A>G (p.Val10080=)
c.29865A>G (p.Val9955=)
c.57060A>G (p.Val19020=)
c.52137A>G (p.Val17379=)
n.682+876T>C
n.3452T>C
c.56157A>G (p.Val18719=)
c.30051A>G (p.Val10017=)
c.29910A>G (p.Val9970=)
c.55953A>G (p.Val18651=)
c.51351A>G (p.Val17117=)
c.51348A>G (p.Val17116=)
c.48390A>G (p.Val16130=)
c.30006A>G (p.Val10002=)
c.51501A>G (p.Val17167=)
c.51498A>G (p.Val17166=)
c.50931A>G (p.Val16977=)
c.48273A>G (p.Val16091=)
c.48192A>G (p.Val16064=)
c.29955A>G (p.Val9985=)
c.19809A>G (p.Val6603=)
2g.178598557T>GCA430099174TTN,TTN-AS1c.49356A>C (p.Val16452=)
c.30441A>C (p.Val10147=)
c.30240A>C (p.Val10080=)
c.29865A>C (p.Val9955=)
c.57060A>C (p.Val19020=)
c.52137A>C (p.Val17379=)
n.682+876T>G
n.3452T>G
c.56157A>C (p.Val18719=)
c.30051A>C (p.Val10017=)
c.29910A>C (p.Val9970=)
c.55953A>C (p.Val18651=)
c.51351A>C (p.Val17117=)
c.51348A>C (p.Val17116=)
c.48390A>C (p.Val16130=)
c.30006A>C (p.Val10002=)
c.51501A>C (p.Val17167=)
c.51498A>C (p.Val17166=)
c.50931A>C (p.Val16977=)
c.48273A>C (p.Val16091=)
c.48192A>C (p.Val16064=)
c.29955A>C (p.Val9985=)
c.19809A>C (p.Val6603=)
2g.178598558A>CCA349523899TTN,TTN-AS1c.49355T>G (p.Val16452Gly)
c.30440T>G (p.Val10147Gly)
c.30239T>G (p.Val10080Gly)
c.29864T>G (p.Val9955Gly)
c.57059T>G (p.Val19020Gly)
c.52136T>G (p.Val17379Gly)
n.682+877A>C
n.3453A>C
c.56156T>G (p.Val18719Gly)
c.30050T>G (p.Val10017Gly)
c.29909T>G (p.Val9970Gly)
c.55952T>G (p.Val18651Gly)
c.51350T>G (p.Val17117Gly)
c.51347T>G (p.Val17116Gly)
c.48389T>G (p.Val16130Gly)
c.30005T>G (p.Val10002Gly)
c.51500T>G (p.Val17167Gly)
c.51497T>G (p.Val17166Gly)
c.50930T>G (p.Val16977Gly)
c.48272T>G (p.Val16091Gly)
c.48191T>G (p.Val16064Gly)
c.29954T>G (p.Val9985Gly)
c.19808T>G (p.Val6603Gly)
2g.178598558A>GCA349523901TTN,TTN-AS1c.49355T>C (p.Val16452Ala)
c.30440T>C (p.Val10147Ala)
c.30239T>C (p.Val10080Ala)
c.29864T>C (p.Val9955Ala)
c.57059T>C (p.Val19020Ala)
c.52136T>C (p.Val17379Ala)
n.682+877A>G
n.3453A>G
c.56156T>C (p.Val18719Ala)
c.30050T>C (p.Val10017Ala)
c.29909T>C (p.Val9970Ala)
c.55952T>C (p.Val18651Ala)
c.51350T>C (p.Val17117Ala)
c.51347T>C (p.Val17116Ala)
c.48389T>C (p.Val16130Ala)
c.30005T>C (p.Val10002Ala)
c.51500T>C (p.Val17167Ala)
c.51497T>C (p.Val17166Ala)
c.50930T>C (p.Val16977Ala)
c.48272T>C (p.Val16091Ala)
c.48191T>C (p.Val16064Ala)
c.29954T>C (p.Val9985Ala)
c.19808T>C (p.Val6603Ala)

Number of alleles fetched