Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546612G>ACA16610333TTN,TTN-AS1c.87112C>T (p.Arg29038Ter)
c.68197C>T (p.Arg22733Ter)
c.67996C>T (p.Arg22666Ter)
c.67621C>T (p.Arg22541Ter)
c.94816C>T (p.Arg31606Ter)
c.89893C>T (p.Arg29965Ter)
n.446+22976G>A
n.2043+4251G>A
c.93913C>T (p.Arg31305Ter)
c.67807C>T (p.Arg22603Ter)
c.67666C>T (p.Arg22556Ter)
c.93709C>T (p.Arg31237Ter)
c.89107C>T (p.Arg29703Ter)
c.89104C>T (p.Arg29702Ter)
c.86146C>T (p.Arg28716Ter)
c.67762C>T (p.Arg22588Ter)
c.89257C>T (p.Arg29753Ter)
c.89254C>T (p.Arg29752Ter)
c.88687C>T (p.Arg29563Ter)
c.86029C>T (p.Arg28677Ter)
c.85948C>T (p.Arg28650Ter)
c.67711C>T (p.Arg22571Ter)
c.57565C>T (p.Arg19189Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546612G>CCA349470053TTN,TTN-AS1c.87112C>G (p.Arg29038Gly)
c.68197C>G (p.Arg22733Gly)
c.67996C>G (p.Arg22666Gly)
c.67621C>G (p.Arg22541Gly)
c.94816C>G (p.Arg31606Gly)
c.89893C>G (p.Arg29965Gly)
n.446+22976G>C
n.2043+4251G>C
c.93913C>G (p.Arg31305Gly)
c.67807C>G (p.Arg22603Gly)
c.67666C>G (p.Arg22556Gly)
c.93709C>G (p.Arg31237Gly)
c.89107C>G (p.Arg29703Gly)
c.89104C>G (p.Arg29702Gly)
c.86146C>G (p.Arg28716Gly)
c.67762C>G (p.Arg22588Gly)
c.89257C>G (p.Arg29753Gly)
c.89254C>G (p.Arg29752Gly)
c.88687C>G (p.Arg29563Gly)
c.86029C>G (p.Arg28677Gly)
c.85948C>G (p.Arg28650Gly)
c.67711C>G (p.Arg22571Gly)
c.57565C>G (p.Arg19189Gly)
2g.178546612G=CA1310523245TTN,TTN-AS1c.87112C= (p.Arg29038=)
c.68197C= (p.Arg22733=)
c.67996C= (p.Arg22666=)
c.67621C= (p.Arg22541=)
c.94816C= (p.Arg31606=)
c.89893C= (p.Arg29965=)
n.446+22976G=
n.2043+4251G=
c.93913C= (p.Arg31305=)
c.67807C= (p.Arg22603=)
c.67666C= (p.Arg22556=)
c.93709C= (p.Arg31237=)
c.89107C= (p.Arg29703=)
c.89104C= (p.Arg29702=)
c.86146C= (p.Arg28716=)
c.67762C= (p.Arg22588=)
c.89257C= (p.Arg29753=)
c.89254C= (p.Arg29752=)
c.88687C= (p.Arg29563=)
c.86029C= (p.Arg28677=)
c.85948C= (p.Arg28650=)
c.67711C= (p.Arg22571=)
c.57565C= (p.Arg19189=)
2g.178546612G>TCA430242322TTN,TTN-AS1c.87112C>A (p.Arg29038=)
c.68197C>A (p.Arg22733=)
c.67996C>A (p.Arg22666=)
c.67621C>A (p.Arg22541=)
c.94816C>A (p.Arg31606=)
c.89893C>A (p.Arg29965=)
n.446+22976G>T
n.2043+4251G>T
c.93913C>A (p.Arg31305=)
c.67807C>A (p.Arg22603=)
c.67666C>A (p.Arg22556=)
c.93709C>A (p.Arg31237=)
c.89107C>A (p.Arg29703=)
c.89104C>A (p.Arg29702=)
c.86146C>A (p.Arg28716=)
c.67762C>A (p.Arg22588=)
c.89257C>A (p.Arg29753=)
c.89254C>A (p.Arg29752=)
c.88687C>A (p.Arg29563=)
c.86029C>A (p.Arg28677=)
c.85948C>A (p.Arg28650=)
c.67711C>A (p.Arg22571=)
c.57565C>A (p.Arg19189=)
2g.178546613dupCA2662126189TTN,TTN-AS1c.87112dup (p.Arg29038ProfsTer3)
c.68197dup (p.Arg22733ProfsTer3)
c.67996dup (p.Arg22666ProfsTer3)
c.67621dup (p.Arg22541ProfsTer3)
c.94816dup (p.Arg31606ProfsTer3)
c.89893dup (p.Arg29965ProfsTer3)
n.446+22977dup
n.2043+4252dup
c.93913dup (p.Arg31305ProfsTer3)
c.67807dup (p.Arg22603ProfsTer3)
c.67666dup (p.Arg22556ProfsTer3)
c.93709dup (p.Arg31237ProfsTer3)
c.89107dup (p.Arg29703ProfsTer3)
c.89104dup (p.Arg29702ProfsTer3)
c.86146dup (p.Arg28716ProfsTer3)
c.67762dup (p.Arg22588ProfsTer3)
c.89257dup (p.Arg29753ProfsTer3)
c.89254dup (p.Arg29752ProfsTer3)
c.88687dup (p.Arg29563ProfsTer3)
c.86029dup (p.Arg28677ProfsTer3)
c.85948dup (p.Arg28650ProfsTer3)
c.67711dup (p.Arg22571ProfsTer3)
c.57565dup (p.Arg19189ProfsTer3)
 gnomAD v4
2g.178546613G>ACA430242324TTN,TTN-AS1c.87111C>T (p.Cys29037=)
c.68196C>T (p.Cys22732=)
c.67995C>T (p.Cys22665=)
c.67620C>T (p.Cys22540=)
c.94815C>T (p.Cys31605=)
c.89892C>T (p.Cys29964=)
n.446+22977G>A
n.2043+4252G>A
c.93912C>T (p.Cys31304=)
c.67806C>T (p.Cys22602=)
c.67665C>T (p.Cys22555=)
c.93708C>T (p.Cys31236=)
c.89106C>T (p.Cys29702=)
c.89103C>T (p.Cys29701=)
c.86145C>T (p.Cys28715=)
c.67761C>T (p.Cys22587=)
c.89256C>T (p.Cys29752=)
c.89253C>T (p.Cys29751=)
c.88686C>T (p.Cys29562=)
c.86028C>T (p.Cys28676=)
c.85947C>T (p.Cys28649=)
c.67710C>T (p.Cys22570=)
c.57564C>T (p.Cys19188=)
2g.178546613G>CCA349470057TTN,TTN-AS1c.87111C>G (p.Cys29037Trp)
c.68196C>G (p.Cys22732Trp)
c.67995C>G (p.Cys22665Trp)
c.67620C>G (p.Cys22540Trp)
c.94815C>G (p.Cys31605Trp)
c.89892C>G (p.Cys29964Trp)
n.446+22977G>C
n.2043+4252G>C
c.93912C>G (p.Cys31304Trp)
c.67806C>G (p.Cys22602Trp)
c.67665C>G (p.Cys22555Trp)
c.93708C>G (p.Cys31236Trp)
c.89106C>G (p.Cys29702Trp)
c.89103C>G (p.Cys29701Trp)
c.86145C>G (p.Cys28715Trp)
c.67761C>G (p.Cys22587Trp)
c.89256C>G (p.Cys29752Trp)
c.89253C>G (p.Cys29751Trp)
c.88686C>G (p.Cys29562Trp)
c.86028C>G (p.Cys28676Trp)
c.85947C>G (p.Cys28649Trp)
c.67710C>G (p.Cys22570Trp)
c.57564C>G (p.Cys19188Trp)
2g.178546613G>TCA349470063TTN,TTN-AS1c.87111C>A (p.Cys29037Ter)
c.68196C>A (p.Cys22732Ter)
c.67995C>A (p.Cys22665Ter)
c.67620C>A (p.Cys22540Ter)
c.94815C>A (p.Cys31605Ter)
c.89892C>A (p.Cys29964Ter)
n.446+22977G>T
n.2043+4252G>T
c.93912C>A (p.Cys31304Ter)
c.67806C>A (p.Cys22602Ter)
c.67665C>A (p.Cys22555Ter)
c.93708C>A (p.Cys31236Ter)
c.89106C>A (p.Cys29702Ter)
c.89103C>A (p.Cys29701Ter)
c.86145C>A (p.Cys28715Ter)
c.67761C>A (p.Cys22587Ter)
c.89256C>A (p.Cys29752Ter)
c.89253C>A (p.Cys29751Ter)
c.88686C>A (p.Cys29562Ter)
c.86028C>A (p.Cys28676Ter)
c.85947C>A (p.Cys28649Ter)
c.67710C>A (p.Cys22570Ter)
c.57564C>A (p.Cys19188Ter)
2g.178546614C>ACA349470088TTN,TTN-AS1c.87110G>T (p.Cys29037Phe)
c.68195G>T (p.Cys22732Phe)
c.67994G>T (p.Cys22665Phe)
c.67619G>T (p.Cys22540Phe)
c.94814G>T (p.Cys31605Phe)
c.89891G>T (p.Cys29964Phe)
n.446+22978C>A
n.2043+4253C>A
c.93911G>T (p.Cys31304Phe)
c.67805G>T (p.Cys22602Phe)
c.67664G>T (p.Cys22555Phe)
c.93707G>T (p.Cys31236Phe)
c.89105G>T (p.Cys29702Phe)
c.89102G>T (p.Cys29701Phe)
c.86144G>T (p.Cys28715Phe)
c.67760G>T (p.Cys22587Phe)
c.89255G>T (p.Cys29752Phe)
c.89252G>T (p.Cys29751Phe)
c.88685G>T (p.Cys29562Phe)
c.86027G>T (p.Cys28676Phe)
c.85946G>T (p.Cys28649Phe)
c.67709G>T (p.Cys22570Phe)
c.57563G>T (p.Cys19188Phe)
2g.178546614C=CA1310523247TTN,TTN-AS1c.87110G= (p.Cys29037=)
c.68195G= (p.Cys22732=)
c.67994G= (p.Cys22665=)
c.67619G= (p.Cys22540=)
c.94814G= (p.Cys31605=)
c.89891G= (p.Cys29964=)
n.446+22978C=
n.2043+4253C=
c.93911G= (p.Cys31304=)
c.67805G= (p.Cys22602=)
c.67664G= (p.Cys22555=)
c.93707G= (p.Cys31236=)
c.89105G= (p.Cys29702=)
c.89102G= (p.Cys29701=)
c.86144G= (p.Cys28715=)
c.67760G= (p.Cys22587=)
c.89255G= (p.Cys29752=)
c.89252G= (p.Cys29751=)
c.88685G= (p.Cys29562=)
c.86027G= (p.Cys28676=)
c.85946G= (p.Cys28649=)
c.67709G= (p.Cys22570=)
c.57563G= (p.Cys19188=)
2g.178546614C>GCA349470089TTN,TTN-AS1c.87110G>C (p.Cys29037Ser)
c.68195G>C (p.Cys22732Ser)
c.67994G>C (p.Cys22665Ser)
c.67619G>C (p.Cys22540Ser)
c.94814G>C (p.Cys31605Ser)
c.89891G>C (p.Cys29964Ser)
n.446+22978C>G
n.2043+4253C>G
c.93911G>C (p.Cys31304Ser)
c.67805G>C (p.Cys22602Ser)
c.67664G>C (p.Cys22555Ser)
c.93707G>C (p.Cys31236Ser)
c.89105G>C (p.Cys29702Ser)
c.89102G>C (p.Cys29701Ser)
c.86144G>C (p.Cys28715Ser)
c.67760G>C (p.Cys22587Ser)
c.89255G>C (p.Cys29752Ser)
c.89252G>C (p.Cys29751Ser)
c.88685G>C (p.Cys29562Ser)
c.86027G>C (p.Cys28676Ser)
c.85946G>C (p.Cys28649Ser)
c.67709G>C (p.Cys22570Ser)
c.57563G>C (p.Cys19188Ser)
2g.178546614C>TCA60972476TTN,TTN-AS1c.87110G>A (p.Cys29037Tyr)
c.68195G>A (p.Cys22732Tyr)
c.67994G>A (p.Cys22665Tyr)
c.67619G>A (p.Cys22540Tyr)
c.94814G>A (p.Cys31605Tyr)
c.89891G>A (p.Cys29964Tyr)
n.446+22978C>T
n.2043+4253C>T
c.93911G>A (p.Cys31304Tyr)
c.67805G>A (p.Cys22602Tyr)
c.67664G>A (p.Cys22555Tyr)
c.93707G>A (p.Cys31236Tyr)
c.89105G>A (p.Cys29702Tyr)
c.89102G>A (p.Cys29701Tyr)
c.86144G>A (p.Cys28715Tyr)
c.67760G>A (p.Cys22587Tyr)
c.89255G>A (p.Cys29752Tyr)
c.89252G>A (p.Cys29751Tyr)
c.88685G>A (p.Cys29562Tyr)
c.86027G>A (p.Cys28676Tyr)
c.85946G>A (p.Cys28649Tyr)
c.67709G>A (p.Cys22570Tyr)
c.57563G>A (p.Cys19188Tyr)
 dbSNP gnomAD v4
2g.178546615A=CA1310523250TTN,TTN-AS1c.87109T= (p.Cys29037=)
c.68194T= (p.Cys22732=)
c.67993T= (p.Cys22665=)
c.67618T= (p.Cys22540=)
c.94813T= (p.Cys31605=)
c.89890T= (p.Cys29964=)
n.446+22979A=
n.2043+4254A=
c.93910T= (p.Cys31304=)
c.67804T= (p.Cys22602=)
c.67663T= (p.Cys22555=)
c.93706T= (p.Cys31236=)
c.89104T= (p.Cys29702=)
c.89101T= (p.Cys29701=)
c.86143T= (p.Cys28715=)
c.67759T= (p.Cys22587=)
c.89254T= (p.Cys29752=)
c.89251T= (p.Cys29751=)
c.88684T= (p.Cys29562=)
c.86026T= (p.Cys28676=)
c.85945T= (p.Cys28649=)
c.67708T= (p.Cys22570=)
c.57562T= (p.Cys19188=)
2g.178546615A>CCA349470094TTN,TTN-AS1c.87109T>G (p.Cys29037Gly)
c.68194T>G (p.Cys22732Gly)
c.67993T>G (p.Cys22665Gly)
c.67618T>G (p.Cys22540Gly)
c.94813T>G (p.Cys31605Gly)
c.89890T>G (p.Cys29964Gly)
n.446+22979A>C
n.2043+4254A>C
c.93910T>G (p.Cys31304Gly)
c.67804T>G (p.Cys22602Gly)
c.67663T>G (p.Cys22555Gly)
c.93706T>G (p.Cys31236Gly)
c.89104T>G (p.Cys29702Gly)
c.89101T>G (p.Cys29701Gly)
c.86143T>G (p.Cys28715Gly)
c.67759T>G (p.Cys22587Gly)
c.89254T>G (p.Cys29752Gly)
c.89251T>G (p.Cys29751Gly)
c.88684T>G (p.Cys29562Gly)
c.86026T>G (p.Cys28676Gly)
c.85945T>G (p.Cys28649Gly)
c.67708T>G (p.Cys22570Gly)
c.57562T>G (p.Cys19188Gly)
2g.178546615A>GCA349470099TTN,TTN-AS1c.87109T>C (p.Cys29037Arg)
c.68194T>C (p.Cys22732Arg)
c.67993T>C (p.Cys22665Arg)
c.67618T>C (p.Cys22540Arg)
c.94813T>C (p.Cys31605Arg)
c.89890T>C (p.Cys29964Arg)
n.446+22979A>G
n.2043+4254A>G
c.93910T>C (p.Cys31304Arg)
c.67804T>C (p.Cys22602Arg)
c.67663T>C (p.Cys22555Arg)
c.93706T>C (p.Cys31236Arg)
c.89104T>C (p.Cys29702Arg)
c.89101T>C (p.Cys29701Arg)
c.86143T>C (p.Cys28715Arg)
c.67759T>C (p.Cys22587Arg)
c.89254T>C (p.Cys29752Arg)
c.89251T>C (p.Cys29751Arg)
c.88684T>C (p.Cys29562Arg)
c.86026T>C (p.Cys28676Arg)
c.85945T>C (p.Cys28649Arg)
c.67708T>C (p.Cys22570Arg)
c.57562T>C (p.Cys19188Arg)
2g.178546615A>TCA349470102TTN,TTN-AS1c.87109T>A (p.Cys29037Ser)
c.68194T>A (p.Cys22732Ser)
c.67993T>A (p.Cys22665Ser)
c.67618T>A (p.Cys22540Ser)
c.94813T>A (p.Cys31605Ser)
c.89890T>A (p.Cys29964Ser)
n.446+22979A>T
n.2043+4254A>T
c.93910T>A (p.Cys31304Ser)
c.67804T>A (p.Cys22602Ser)
c.67663T>A (p.Cys22555Ser)
c.93706T>A (p.Cys31236Ser)
c.89104T>A (p.Cys29702Ser)
c.89101T>A (p.Cys29701Ser)
c.86143T>A (p.Cys28715Ser)
c.67759T>A (p.Cys22587Ser)
c.89254T>A (p.Cys29752Ser)
c.89251T>A (p.Cys29751Ser)
c.88684T>A (p.Cys29562Ser)
c.86026T>A (p.Cys28676Ser)
c.85945T>A (p.Cys28649Ser)
c.67708T>A (p.Cys22570Ser)
c.57562T>A (p.Cys19188Ser)
 dbSNP gnomAD v4
2g.178546616A>CCA430242328TTN,TTN-AS1c.87108T>G (p.Thr29036=)
c.68193T>G (p.Thr22731=)
c.67992T>G (p.Thr22664=)
c.67617T>G (p.Thr22539=)
c.94812T>G (p.Thr31604=)
c.89889T>G (p.Thr29963=)
n.446+22980A>C
n.2043+4255A>C
c.93909T>G (p.Thr31303=)
c.67803T>G (p.Thr22601=)
c.67662T>G (p.Thr22554=)
c.93705T>G (p.Thr31235=)
c.89103T>G (p.Thr29701=)
c.89100T>G (p.Thr29700=)
c.86142T>G (p.Thr28714=)
c.67758T>G (p.Thr22586=)
c.89253T>G (p.Thr29751=)
c.89250T>G (p.Thr29750=)
c.88683T>G (p.Thr29561=)
c.86025T>G (p.Thr28675=)
c.85944T>G (p.Thr28648=)
c.67707T>G (p.Thr22569=)
c.57561T>G (p.Thr19187=)
2g.178546616A>GCA430242329TTN,TTN-AS1c.87108T>C (p.Thr29036=)
c.68193T>C (p.Thr22731=)
c.67992T>C (p.Thr22664=)
c.67617T>C (p.Thr22539=)
c.94812T>C (p.Thr31604=)
c.89889T>C (p.Thr29963=)
n.446+22980A>G
n.2043+4255A>G
c.93909T>C (p.Thr31303=)
c.67803T>C (p.Thr22601=)
c.67662T>C (p.Thr22554=)
c.93705T>C (p.Thr31235=)
c.89103T>C (p.Thr29701=)
c.89100T>C (p.Thr29700=)
c.86142T>C (p.Thr28714=)
c.67758T>C (p.Thr22586=)
c.89253T>C (p.Thr29751=)
c.89250T>C (p.Thr29750=)
c.88683T>C (p.Thr29561=)
c.86025T>C (p.Thr28675=)
c.85944T>C (p.Thr28648=)
c.67707T>C (p.Thr22569=)
c.57561T>C (p.Thr19187=)
2g.178546616A>TCA430242330TTN,TTN-AS1c.87108T>A (p.Thr29036=)
c.68193T>A (p.Thr22731=)
c.67992T>A (p.Thr22664=)
c.67617T>A (p.Thr22539=)
c.94812T>A (p.Thr31604=)
c.89889T>A (p.Thr29963=)
n.446+22980A>T
n.2043+4255A>T
c.93909T>A (p.Thr31303=)
c.67803T>A (p.Thr22601=)
c.67662T>A (p.Thr22554=)
c.93705T>A (p.Thr31235=)
c.89103T>A (p.Thr29701=)
c.89100T>A (p.Thr29700=)
c.86142T>A (p.Thr28714=)
c.67758T>A (p.Thr22586=)
c.89253T>A (p.Thr29751=)
c.89250T>A (p.Thr29750=)
c.88683T>A (p.Thr29561=)
c.86025T>A (p.Thr28675=)
c.85944T>A (p.Thr28648=)
c.67707T>A (p.Thr22569=)
c.57561T>A (p.Thr19187=)
2g.178546617G>ACA349470126TTN,TTN-AS1c.87107C>T (p.Thr29036Ile)
c.68192C>T (p.Thr22731Ile)
c.67991C>T (p.Thr22664Ile)
c.67616C>T (p.Thr22539Ile)
c.94811C>T (p.Thr31604Ile)
c.89888C>T (p.Thr29963Ile)
n.446+22981G>A
n.2043+4256G>A
c.93908C>T (p.Thr31303Ile)
c.67802C>T (p.Thr22601Ile)
c.67661C>T (p.Thr22554Ile)
c.93704C>T (p.Thr31235Ile)
c.89102C>T (p.Thr29701Ile)
c.89099C>T (p.Thr29700Ile)
c.86141C>T (p.Thr28714Ile)
c.67757C>T (p.Thr22586Ile)
c.89252C>T (p.Thr29751Ile)
c.89249C>T (p.Thr29750Ile)
c.88682C>T (p.Thr29561Ile)
c.86024C>T (p.Thr28675Ile)
c.85943C>T (p.Thr28648Ile)
c.67706C>T (p.Thr22569Ile)
c.57560C>T (p.Thr19187Ile)
2g.178546617G>CCA349470118TTN,TTN-AS1c.87107C>G (p.Thr29036Ser)
c.68192C>G (p.Thr22731Ser)
c.67991C>G (p.Thr22664Ser)
c.67616C>G (p.Thr22539Ser)
c.94811C>G (p.Thr31604Ser)
c.89888C>G (p.Thr29963Ser)
n.446+22981G>C
n.2043+4256G>C
c.93908C>G (p.Thr31303Ser)
c.67802C>G (p.Thr22601Ser)
c.67661C>G (p.Thr22554Ser)
c.93704C>G (p.Thr31235Ser)
c.89102C>G (p.Thr29701Ser)
c.89099C>G (p.Thr29700Ser)
c.86141C>G (p.Thr28714Ser)
c.67757C>G (p.Thr22586Ser)
c.89252C>G (p.Thr29751Ser)
c.89249C>G (p.Thr29750Ser)
c.88682C>G (p.Thr29561Ser)
c.86024C>G (p.Thr28675Ser)
c.85943C>G (p.Thr28648Ser)
c.67706C>G (p.Thr22569Ser)
c.57560C>G (p.Thr19187Ser)
2g.178546617G>TCA349470108TTN,TTN-AS1c.87107C>A (p.Thr29036Asn)
c.68192C>A (p.Thr22731Asn)
c.67991C>A (p.Thr22664Asn)
c.67616C>A (p.Thr22539Asn)
c.94811C>A (p.Thr31604Asn)
c.89888C>A (p.Thr29963Asn)
n.446+22981G>T
n.2043+4256G>T
c.93908C>A (p.Thr31303Asn)
c.67802C>A (p.Thr22601Asn)
c.67661C>A (p.Thr22554Asn)
c.93704C>A (p.Thr31235Asn)
c.89102C>A (p.Thr29701Asn)
c.89099C>A (p.Thr29700Asn)
c.86141C>A (p.Thr28714Asn)
c.67757C>A (p.Thr22586Asn)
c.89252C>A (p.Thr29751Asn)
c.89249C>A (p.Thr29750Asn)
c.88682C>A (p.Thr29561Asn)
c.86024C>A (p.Thr28675Asn)
c.85943C>A (p.Thr28648Asn)
c.67706C>A (p.Thr22569Asn)
c.57560C>A (p.Thr19187Asn)
2g.178546618T>ACA349470130TTN,TTN-AS1c.87106A>T (p.Thr29036Ser)
c.68191A>T (p.Thr22731Ser)
c.67990A>T (p.Thr22664Ser)
c.67615A>T (p.Thr22539Ser)
c.94810A>T (p.Thr31604Ser)
c.89887A>T (p.Thr29963Ser)
n.446+22982T>A
n.2043+4257T>A
c.93907A>T (p.Thr31303Ser)
c.67801A>T (p.Thr22601Ser)
c.67660A>T (p.Thr22554Ser)
c.93703A>T (p.Thr31235Ser)
c.89101A>T (p.Thr29701Ser)
c.89098A>T (p.Thr29700Ser)
c.86140A>T (p.Thr28714Ser)
c.67756A>T (p.Thr22586Ser)
c.89251A>T (p.Thr29751Ser)
c.89248A>T (p.Thr29750Ser)
c.88681A>T (p.Thr29561Ser)
c.86023A>T (p.Thr28675Ser)
c.85942A>T (p.Thr28648Ser)
c.67705A>T (p.Thr22569Ser)
c.57559A>T (p.Thr19187Ser)
2g.178546618T>CCA349470138TTN,TTN-AS1c.87106A>G (p.Thr29036Ala)
c.68191A>G (p.Thr22731Ala)
c.67990A>G (p.Thr22664Ala)
c.67615A>G (p.Thr22539Ala)
c.94810A>G (p.Thr31604Ala)
c.89887A>G (p.Thr29963Ala)
n.446+22982T>C
n.2043+4257T>C
c.93907A>G (p.Thr31303Ala)
c.67801A>G (p.Thr22601Ala)
c.67660A>G (p.Thr22554Ala)
c.93703A>G (p.Thr31235Ala)
c.89101A>G (p.Thr29701Ala)
c.89098A>G (p.Thr29700Ala)
c.86140A>G (p.Thr28714Ala)
c.67756A>G (p.Thr22586Ala)
c.89251A>G (p.Thr29751Ala)
c.89248A>G (p.Thr29750Ala)
c.88681A>G (p.Thr29561Ala)
c.86023A>G (p.Thr28675Ala)
c.85942A>G (p.Thr28648Ala)
c.67705A>G (p.Thr22569Ala)
c.57559A>G (p.Thr19187Ala)
 gnomAD v4
2g.178546618T>GCA349470149TTN,TTN-AS1c.87106A>C (p.Thr29036Pro)
c.68191A>C (p.Thr22731Pro)
c.67990A>C (p.Thr22664Pro)
c.67615A>C (p.Thr22539Pro)
c.94810A>C (p.Thr31604Pro)
c.89887A>C (p.Thr29963Pro)
n.446+22982T>G
n.2043+4257T>G
c.93907A>C (p.Thr31303Pro)
c.67801A>C (p.Thr22601Pro)
c.67660A>C (p.Thr22554Pro)
c.93703A>C (p.Thr31235Pro)
c.89101A>C (p.Thr29701Pro)
c.89098A>C (p.Thr29700Pro)
c.86140A>C (p.Thr28714Pro)
c.67756A>C (p.Thr22586Pro)
c.89251A>C (p.Thr29751Pro)
c.89248A>C (p.Thr29750Pro)
c.88681A>C (p.Thr29561Pro)
c.86023A>C (p.Thr28675Pro)
c.85942A>C (p.Thr28648Pro)
c.67705A>C (p.Thr22569Pro)
c.57559A>C (p.Thr19187Pro)
 gnomAD v4
2g.178546619G>ACA430242338TTN,TTN-AS1c.87105C>T (p.Val29035=)
c.68190C>T (p.Val22730=)
c.67989C>T (p.Val22663=)
c.67614C>T (p.Val22538=)
c.94809C>T (p.Val31603=)
c.89886C>T (p.Val29962=)
n.446+22983G>A
n.2043+4258G>A
c.93906C>T (p.Val31302=)
c.67800C>T (p.Val22600=)
c.67659C>T (p.Val22553=)
c.93702C>T (p.Val31234=)
c.89100C>T (p.Val29700=)
c.89097C>T (p.Val29699=)
c.86139C>T (p.Val28713=)
c.67755C>T (p.Val22585=)
c.89250C>T (p.Val29750=)
c.89247C>T (p.Val29749=)
c.88680C>T (p.Val29560=)
c.86022C>T (p.Val28674=)
c.85941C>T (p.Val28647=)
c.67704C>T (p.Val22568=)
c.57558C>T (p.Val19186=)
2g.178546619G>CCA430242339TTN,TTN-AS1c.87105C>G (p.Val29035=)
c.68190C>G (p.Val22730=)
c.67989C>G (p.Val22663=)
c.67614C>G (p.Val22538=)
c.94809C>G (p.Val31603=)
c.89886C>G (p.Val29962=)
n.446+22983G>C
n.2043+4258G>C
c.93906C>G (p.Val31302=)
c.67800C>G (p.Val22600=)
c.67659C>G (p.Val22553=)
c.93702C>G (p.Val31234=)
c.89100C>G (p.Val29700=)
c.89097C>G (p.Val29699=)
c.86139C>G (p.Val28713=)
c.67755C>G (p.Val22585=)
c.89250C>G (p.Val29750=)
c.89247C>G (p.Val29749=)
c.88680C>G (p.Val29560=)
c.86022C>G (p.Val28674=)
c.85941C>G (p.Val28647=)
c.67704C>G (p.Val22568=)
c.57558C>G (p.Val19186=)
2g.178546619G>TCA430242337TTN,TTN-AS1c.87105C>A (p.Val29035=)
c.68190C>A (p.Val22730=)
c.67989C>A (p.Val22663=)
c.67614C>A (p.Val22538=)
c.94809C>A (p.Val31603=)
c.89886C>A (p.Val29962=)
n.446+22983G>T
n.2043+4258G>T
c.93906C>A (p.Val31302=)
c.67800C>A (p.Val22600=)
c.67659C>A (p.Val22553=)
c.93702C>A (p.Val31234=)
c.89100C>A (p.Val29700=)
c.89097C>A (p.Val29699=)
c.86139C>A (p.Val28713=)
c.67755C>A (p.Val22585=)
c.89250C>A (p.Val29750=)
c.89247C>A (p.Val29749=)
c.88680C>A (p.Val29560=)
c.86022C>A (p.Val28674=)
c.85941C>A (p.Val28647=)
c.67704C>A (p.Val22568=)
c.57558C>A (p.Val19186=)
2g.178546620A>CCA349470157TTN,TTN-AS1c.87104T>G (p.Val29035Gly)
c.68189T>G (p.Val22730Gly)
c.67988T>G (p.Val22663Gly)
c.67613T>G (p.Val22538Gly)
c.94808T>G (p.Val31603Gly)
c.89885T>G (p.Val29962Gly)
n.446+22984A>C
n.2043+4259A>C
c.93905T>G (p.Val31302Gly)
c.67799T>G (p.Val22600Gly)
c.67658T>G (p.Val22553Gly)
c.93701T>G (p.Val31234Gly)
c.89099T>G (p.Val29700Gly)
c.89096T>G (p.Val29699Gly)
c.86138T>G (p.Val28713Gly)
c.67754T>G (p.Val22585Gly)
c.89249T>G (p.Val29750Gly)
c.89246T>G (p.Val29749Gly)
c.88679T>G (p.Val29560Gly)
c.86021T>G (p.Val28674Gly)
c.85940T>G (p.Val28647Gly)
c.67703T>G (p.Val22568Gly)
c.57557T>G (p.Val19186Gly)
2g.178546620A>GCA349470160TTN,TTN-AS1c.87104T>C (p.Val29035Ala)
c.68189T>C (p.Val22730Ala)
c.67988T>C (p.Val22663Ala)
c.67613T>C (p.Val22538Ala)
c.94808T>C (p.Val31603Ala)
c.89885T>C (p.Val29962Ala)
n.446+22984A>G
n.2043+4259A>G
c.93905T>C (p.Val31302Ala)
c.67799T>C (p.Val22600Ala)
c.67658T>C (p.Val22553Ala)
c.93701T>C (p.Val31234Ala)
c.89099T>C (p.Val29700Ala)
c.89096T>C (p.Val29699Ala)
c.86138T>C (p.Val28713Ala)
c.67754T>C (p.Val22585Ala)
c.89249T>C (p.Val29750Ala)
c.89246T>C (p.Val29749Ala)
c.88679T>C (p.Val29560Ala)
c.86021T>C (p.Val28674Ala)
c.85940T>C (p.Val28647Ala)
c.67703T>C (p.Val22568Ala)
c.57557T>C (p.Val19186Ala)
2g.178546620A>TCA349470163TTN,TTN-AS1c.87104T>A (p.Val29035Asp)
c.68189T>A (p.Val22730Asp)
c.67988T>A (p.Val22663Asp)
c.67613T>A (p.Val22538Asp)
c.94808T>A (p.Val31603Asp)
c.89885T>A (p.Val29962Asp)
n.446+22984A>T
n.2043+4259A>T
c.93905T>A (p.Val31302Asp)
c.67799T>A (p.Val22600Asp)
c.67658T>A (p.Val22553Asp)
c.93701T>A (p.Val31234Asp)
c.89099T>A (p.Val29700Asp)
c.89096T>A (p.Val29699Asp)
c.86138T>A (p.Val28713Asp)
c.67754T>A (p.Val22585Asp)
c.89249T>A (p.Val29750Asp)
c.89246T>A (p.Val29749Asp)
c.88679T>A (p.Val29560Asp)
c.86021T>A (p.Val28674Asp)
c.85940T>A (p.Val28647Asp)
c.67703T>A (p.Val22568Asp)
c.57557T>A (p.Val19186Asp)
2g.178546621C>ACA16610334TTN,TTN-AS1c.87103G>T (p.Val29035Phe)
c.68188G>T (p.Val22730Phe)
c.67987G>T (p.Val22663Phe)
c.67612G>T (p.Val22538Phe)
c.94807G>T (p.Val31603Phe)
c.89884G>T (p.Val29962Phe)
n.446+22985C>A
n.2043+4260C>A
c.93904G>T (p.Val31302Phe)
c.67798G>T (p.Val22600Phe)
c.67657G>T (p.Val22553Phe)
c.93700G>T (p.Val31234Phe)
c.89098G>T (p.Val29700Phe)
c.89095G>T (p.Val29699Phe)
c.86137G>T (p.Val28713Phe)
c.67753G>T (p.Val22585Phe)
c.89248G>T (p.Val29750Phe)
c.89245G>T (p.Val29749Phe)
c.88678G>T (p.Val29560Phe)
c.86020G>T (p.Val28674Phe)
c.85939G>T (p.Val28647Phe)
c.67702G>T (p.Val22568Phe)
c.57556G>T (p.Val19186Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546621C=CA1310523254TTN,TTN-AS1c.87103G= (p.Val29035=)
c.68188G= (p.Val22730=)
c.67987G= (p.Val22663=)
c.67612G= (p.Val22538=)
c.94807G= (p.Val31603=)
c.89884G= (p.Val29962=)
n.446+22985C=
n.2043+4260C=
c.93904G= (p.Val31302=)
c.67798G= (p.Val22600=)
c.67657G= (p.Val22553=)
c.93700G= (p.Val31234=)
c.89098G= (p.Val29700=)
c.89095G= (p.Val29699=)
c.86137G= (p.Val28713=)
c.67753G= (p.Val22585=)
c.89248G= (p.Val29750=)
c.89245G= (p.Val29749=)
c.88678G= (p.Val29560=)
c.86020G= (p.Val28674=)
c.85939G= (p.Val28647=)
c.67702G= (p.Val22568=)
c.57556G= (p.Val19186=)
2g.178546621C>GCA349470169TTN,TTN-AS1c.87103G>C (p.Val29035Leu)
c.68188G>C (p.Val22730Leu)
c.67987G>C (p.Val22663Leu)
c.67612G>C (p.Val22538Leu)
c.94807G>C (p.Val31603Leu)
c.89884G>C (p.Val29962Leu)
n.446+22985C>G
n.2043+4260C>G
c.93904G>C (p.Val31302Leu)
c.67798G>C (p.Val22600Leu)
c.67657G>C (p.Val22553Leu)
c.93700G>C (p.Val31234Leu)
c.89098G>C (p.Val29700Leu)
c.89095G>C (p.Val29699Leu)
c.86137G>C (p.Val28713Leu)
c.67753G>C (p.Val22585Leu)
c.89248G>C (p.Val29750Leu)
c.89245G>C (p.Val29749Leu)
c.88678G>C (p.Val29560Leu)
c.86020G>C (p.Val28674Leu)
c.85939G>C (p.Val28647Leu)
c.67702G>C (p.Val22568Leu)
c.57556G>C (p.Val19186Leu)
2g.178546621C>TCA349470170TTN,TTN-AS1c.87103G>A (p.Val29035Ile)
c.68188G>A (p.Val22730Ile)
c.67987G>A (p.Val22663Ile)
c.67612G>A (p.Val22538Ile)
c.94807G>A (p.Val31603Ile)
c.89884G>A (p.Val29962Ile)
n.446+22985C>T
n.2043+4260C>T
c.93904G>A (p.Val31302Ile)
c.67798G>A (p.Val22600Ile)
c.67657G>A (p.Val22553Ile)
c.93700G>A (p.Val31234Ile)
c.89098G>A (p.Val29700Ile)
c.89095G>A (p.Val29699Ile)
c.86137G>A (p.Val28713Ile)
c.67753G>A (p.Val22585Ile)
c.89248G>A (p.Val29750Ile)
c.89245G>A (p.Val29749Ile)
c.88678G>A (p.Val29560Ile)
c.86020G>A (p.Val28674Ile)
c.85939G>A (p.Val28647Ile)
c.67702G>A (p.Val22568Ile)
c.57556G>A (p.Val19186Ile)
 gnomAD v4
2g.178546622A>CCA430242341TTN,TTN-AS1c.87102T>G (p.Pro29034=)
c.68187T>G (p.Pro22729=)
c.67986T>G (p.Pro22662=)
c.67611T>G (p.Pro22537=)
c.94806T>G (p.Pro31602=)
c.89883T>G (p.Pro29961=)
n.446+22986A>C
n.2043+4261A>C
c.93903T>G (p.Pro31301=)
c.67797T>G (p.Pro22599=)
c.67656T>G (p.Pro22552=)
c.93699T>G (p.Pro31233=)
c.89097T>G (p.Pro29699=)
c.89094T>G (p.Pro29698=)
c.86136T>G (p.Pro28712=)
c.67752T>G (p.Pro22584=)
c.89247T>G (p.Pro29749=)
c.89244T>G (p.Pro29748=)
c.88677T>G (p.Pro29559=)
c.86019T>G (p.Pro28673=)
c.85938T>G (p.Pro28646=)
c.67701T>G (p.Pro22567=)
c.57555T>G (p.Pro19185=)
2g.178546622A>GCA430242342TTN,TTN-AS1c.87102T>C (p.Pro29034=)
c.68187T>C (p.Pro22729=)
c.67986T>C (p.Pro22662=)
c.67611T>C (p.Pro22537=)
c.94806T>C (p.Pro31602=)
c.89883T>C (p.Pro29961=)
n.446+22986A>G
n.2043+4261A>G
c.93903T>C (p.Pro31301=)
c.67797T>C (p.Pro22599=)
c.67656T>C (p.Pro22552=)
c.93699T>C (p.Pro31233=)
c.89097T>C (p.Pro29699=)
c.89094T>C (p.Pro29698=)
c.86136T>C (p.Pro28712=)
c.67752T>C (p.Pro22584=)
c.89247T>C (p.Pro29749=)
c.89244T>C (p.Pro29748=)
c.88677T>C (p.Pro29559=)
c.86019T>C (p.Pro28673=)
c.85938T>C (p.Pro28646=)
c.67701T>C (p.Pro22567=)
c.57555T>C (p.Pro19185=)
2g.178546622A>TCA430242343TTN,TTN-AS1c.87102T>A (p.Pro29034=)
c.68187T>A (p.Pro22729=)
c.67986T>A (p.Pro22662=)
c.67611T>A (p.Pro22537=)
c.94806T>A (p.Pro31602=)
c.89883T>A (p.Pro29961=)
n.446+22986A>T
n.2043+4261A>T
c.93903T>A (p.Pro31301=)
c.67797T>A (p.Pro22599=)
c.67656T>A (p.Pro22552=)
c.93699T>A (p.Pro31233=)
c.89097T>A (p.Pro29699=)
c.89094T>A (p.Pro29698=)
c.86136T>A (p.Pro28712=)
c.67752T>A (p.Pro22584=)
c.89247T>A (p.Pro29749=)
c.89244T>A (p.Pro29748=)
c.88677T>A (p.Pro29559=)
c.86019T>A (p.Pro28673=)
c.85938T>A (p.Pro28646=)
c.67701T>A (p.Pro22567=)
c.57555T>A (p.Pro19185=)
2g.178546622_178546623delCA2580614426TTN,TTN-AS1c.87101_87102del (p.Pro29034ArgfsTer6)
c.68186_68187del (p.Pro22729ArgfsTer6)
c.67985_67986del (p.Pro22662ArgfsTer6)
c.67610_67611del (p.Pro22537ArgfsTer6)
c.94805_94806del (p.Pro31602ArgfsTer6)
c.89882_89883del (p.Pro29961ArgfsTer6)
n.446+22986_446+22987del
n.2043+4261_2043+4262del
c.93902_93903del (p.Pro31301ArgfsTer6)
c.67796_67797del (p.Pro22599ArgfsTer6)
c.67655_67656del (p.Pro22552ArgfsTer6)
c.93698_93699del (p.Pro31233ArgfsTer6)
c.89096_89097del (p.Pro29699ArgfsTer6)
c.89093_89094del (p.Pro29698ArgfsTer6)
c.86135_86136del (p.Pro28712ArgfsTer6)
c.67751_67752del (p.Pro22584ArgfsTer6)
c.89246_89247del (p.Pro29749ArgfsTer6)
c.89243_89244del (p.Pro29748ArgfsTer6)
c.88676_88677del (p.Pro29559ArgfsTer6)
c.86018_86019del (p.Pro28673ArgfsTer6)
c.85937_85938del (p.Pro28646ArgfsTer6)
c.67700_67701del (p.Pro22567ArgfsTer6)
c.57554_57555del (p.Pro19185ArgfsTer6)
 ClinVar gnomAD v4
2g.178546623G>ACA349470172TTN,TTN-AS1c.87101C>T (p.Pro29034Leu)
c.68186C>T (p.Pro22729Leu)
c.67985C>T (p.Pro22662Leu)
c.67610C>T (p.Pro22537Leu)
c.94805C>T (p.Pro31602Leu)
c.89882C>T (p.Pro29961Leu)
n.446+22987G>A
n.2043+4262G>A
c.93902C>T (p.Pro31301Leu)
c.67796C>T (p.Pro22599Leu)
c.67655C>T (p.Pro22552Leu)
c.93698C>T (p.Pro31233Leu)
c.89096C>T (p.Pro29699Leu)
c.89093C>T (p.Pro29698Leu)
c.86135C>T (p.Pro28712Leu)
c.67751C>T (p.Pro22584Leu)
c.89246C>T (p.Pro29749Leu)
c.89243C>T (p.Pro29748Leu)
c.88676C>T (p.Pro29559Leu)
c.86018C>T (p.Pro28673Leu)
c.85937C>T (p.Pro28646Leu)
c.67700C>T (p.Pro22567Leu)
c.57554C>T (p.Pro19185Leu)
2g.178546623G>CCA349470174TTN,TTN-AS1c.87101C>G (p.Pro29034Arg)
c.68186C>G (p.Pro22729Arg)
c.67985C>G (p.Pro22662Arg)
c.67610C>G (p.Pro22537Arg)
c.94805C>G (p.Pro31602Arg)
c.89882C>G (p.Pro29961Arg)
n.446+22987G>C
n.2043+4262G>C
c.93902C>G (p.Pro31301Arg)
c.67796C>G (p.Pro22599Arg)
c.67655C>G (p.Pro22552Arg)
c.93698C>G (p.Pro31233Arg)
c.89096C>G (p.Pro29699Arg)
c.89093C>G (p.Pro29698Arg)
c.86135C>G (p.Pro28712Arg)
c.67751C>G (p.Pro22584Arg)
c.89246C>G (p.Pro29749Arg)
c.89243C>G (p.Pro29748Arg)
c.88676C>G (p.Pro29559Arg)
c.86018C>G (p.Pro28673Arg)
c.85937C>G (p.Pro28646Arg)
c.67700C>G (p.Pro22567Arg)
c.57554C>G (p.Pro19185Arg)
2g.178546623G=CA1310523257TTN,TTN-AS1c.87101C= (p.Pro29034=)
c.68186C= (p.Pro22729=)
c.67985C= (p.Pro22662=)
c.67610C= (p.Pro22537=)
c.94805C= (p.Pro31602=)
c.89882C= (p.Pro29961=)
n.446+22987G=
n.2043+4262G=
c.93902C= (p.Pro31301=)
c.67796C= (p.Pro22599=)
c.67655C= (p.Pro22552=)
c.93698C= (p.Pro31233=)
c.89096C= (p.Pro29699=)
c.89093C= (p.Pro29698=)
c.86135C= (p.Pro28712=)
c.67751C= (p.Pro22584=)
c.89246C= (p.Pro29749=)
c.89243C= (p.Pro29748=)
c.88676C= (p.Pro29559=)
c.86018C= (p.Pro28673=)
c.85937C= (p.Pro28646=)
c.67700C= (p.Pro22567=)
c.57554C= (p.Pro19185=)
2g.178546623G>TCA349470178TTN,TTN-AS1c.87101C>A (p.Pro29034His)
c.68186C>A (p.Pro22729His)
c.67985C>A (p.Pro22662His)
c.67610C>A (p.Pro22537His)
c.94805C>A (p.Pro31602His)
c.89882C>A (p.Pro29961His)
n.446+22987G>T
n.2043+4262G>T
c.93902C>A (p.Pro31301His)
c.67796C>A (p.Pro22599His)
c.67655C>A (p.Pro22552His)
c.93698C>A (p.Pro31233His)
c.89096C>A (p.Pro29699His)
c.89093C>A (p.Pro29698His)
c.86135C>A (p.Pro28712His)
c.67751C>A (p.Pro22584His)
c.89246C>A (p.Pro29749His)
c.89243C>A (p.Pro29748His)
c.88676C>A (p.Pro29559His)
c.86018C>A (p.Pro28673His)
c.85937C>A (p.Pro28646His)
c.67700C>A (p.Pro22567His)
c.57554C>A (p.Pro19185His)
 dbSNP gnomAD v2
2g.178546624G>ACA349470180TTN,TTN-AS1c.87100C>T (p.Pro29034Ser)
c.68185C>T (p.Pro22729Ser)
c.67984C>T (p.Pro22662Ser)
c.67609C>T (p.Pro22537Ser)
c.94804C>T (p.Pro31602Ser)
c.89881C>T (p.Pro29961Ser)
n.446+22988G>A
n.2043+4263G>A
c.93901C>T (p.Pro31301Ser)
c.67795C>T (p.Pro22599Ser)
c.67654C>T (p.Pro22552Ser)
c.93697C>T (p.Pro31233Ser)
c.89095C>T (p.Pro29699Ser)
c.89092C>T (p.Pro29698Ser)
c.86134C>T (p.Pro28712Ser)
c.67750C>T (p.Pro22584Ser)
c.89245C>T (p.Pro29749Ser)
c.89242C>T (p.Pro29748Ser)
c.88675C>T (p.Pro29559Ser)
c.86017C>T (p.Pro28673Ser)
c.85936C>T (p.Pro28646Ser)
c.67699C>T (p.Pro22567Ser)
c.57553C>T (p.Pro19185Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178546624G>CCA349470181TTN,TTN-AS1c.87100C>G (p.Pro29034Ala)
c.68185C>G (p.Pro22729Ala)
c.67984C>G (p.Pro22662Ala)
c.67609C>G (p.Pro22537Ala)
c.94804C>G (p.Pro31602Ala)
c.89881C>G (p.Pro29961Ala)
n.446+22988G>C
n.2043+4263G>C
c.93901C>G (p.Pro31301Ala)
c.67795C>G (p.Pro22599Ala)
c.67654C>G (p.Pro22552Ala)
c.93697C>G (p.Pro31233Ala)
c.89095C>G (p.Pro29699Ala)
c.89092C>G (p.Pro29698Ala)
c.86134C>G (p.Pro28712Ala)
c.67750C>G (p.Pro22584Ala)
c.89245C>G (p.Pro29749Ala)
c.89242C>G (p.Pro29748Ala)
c.88675C>G (p.Pro29559Ala)
c.86017C>G (p.Pro28673Ala)
c.85936C>G (p.Pro28646Ala)
c.67699C>G (p.Pro22567Ala)
c.57553C>G (p.Pro19185Ala)
2g.178546624G=CA1310523261TTN,TTN-AS1c.87100C= (p.Pro29034=)
c.68185C= (p.Pro22729=)
c.67984C= (p.Pro22662=)
c.67609C= (p.Pro22537=)
c.94804C= (p.Pro31602=)
c.89881C= (p.Pro29961=)
n.446+22988G=
n.2043+4263G=
c.93901C= (p.Pro31301=)
c.67795C= (p.Pro22599=)
c.67654C= (p.Pro22552=)
c.93697C= (p.Pro31233=)
c.89095C= (p.Pro29699=)
c.89092C= (p.Pro29698=)
c.86134C= (p.Pro28712=)
c.67750C= (p.Pro22584=)
c.89245C= (p.Pro29749=)
c.89242C= (p.Pro29748=)
c.88675C= (p.Pro29559=)
c.86017C= (p.Pro28673=)
c.85936C= (p.Pro28646=)
c.67699C= (p.Pro22567=)
c.57553C= (p.Pro19185=)
2g.178546624G>TCA349470179TTN,TTN-AS1c.87100C>A (p.Pro29034Thr)
c.68185C>A (p.Pro22729Thr)
c.67984C>A (p.Pro22662Thr)
c.67609C>A (p.Pro22537Thr)
c.94804C>A (p.Pro31602Thr)
c.89881C>A (p.Pro29961Thr)
n.446+22988G>T
n.2043+4263G>T
c.93901C>A (p.Pro31301Thr)
c.67795C>A (p.Pro22599Thr)
c.67654C>A (p.Pro22552Thr)
c.93697C>A (p.Pro31233Thr)
c.89095C>A (p.Pro29699Thr)
c.89092C>A (p.Pro29698Thr)
c.86134C>A (p.Pro28712Thr)
c.67750C>A (p.Pro22584Thr)
c.89245C>A (p.Pro29749Thr)
c.89242C>A (p.Pro29748Thr)
c.88675C>A (p.Pro29559Thr)
c.86017C>A (p.Pro28673Thr)
c.85936C>A (p.Pro28646Thr)
c.67699C>A (p.Pro22567Thr)
c.57553C>A (p.Pro19185Thr)
2g.178546625G>ACA430242348TTN,TTN-AS1c.87099C>T (p.Gly29033=)
c.68184C>T (p.Gly22728=)
c.67983C>T (p.Gly22661=)
c.67608C>T (p.Gly22536=)
c.94803C>T (p.Gly31601=)
c.89880C>T (p.Gly29960=)
n.446+22989G>A
n.2043+4264G>A
c.93900C>T (p.Gly31300=)
c.67794C>T (p.Gly22598=)
c.67653C>T (p.Gly22551=)
c.93696C>T (p.Gly31232=)
c.89094C>T (p.Gly29698=)
c.89091C>T (p.Gly29697=)
c.86133C>T (p.Gly28711=)
c.67749C>T (p.Gly22583=)
c.89244C>T (p.Gly29748=)
c.89241C>T (p.Gly29747=)
c.88674C>T (p.Gly29558=)
c.86016C>T (p.Gly28672=)
c.85935C>T (p.Gly28645=)
c.67698C>T (p.Gly22566=)
c.57552C>T (p.Gly19184=)
2g.178546625G>CCA430242350TTN,TTN-AS1c.87099C>G (p.Gly29033=)
c.68184C>G (p.Gly22728=)
c.67983C>G (p.Gly22661=)
c.67608C>G (p.Gly22536=)
c.94803C>G (p.Gly31601=)
c.89880C>G (p.Gly29960=)
n.446+22989G>C
n.2043+4264G>C
c.93900C>G (p.Gly31300=)
c.67794C>G (p.Gly22598=)
c.67653C>G (p.Gly22551=)
c.93696C>G (p.Gly31232=)
c.89094C>G (p.Gly29698=)
c.89091C>G (p.Gly29697=)
c.86133C>G (p.Gly28711=)
c.67749C>G (p.Gly22583=)
c.89244C>G (p.Gly29748=)
c.89241C>G (p.Gly29747=)
c.88674C>G (p.Gly29558=)
c.86016C>G (p.Gly28672=)
c.85935C>G (p.Gly28645=)
c.67698C>G (p.Gly22566=)
c.57552C>G (p.Gly19184=)
2g.178546625G>TCA430242351TTN,TTN-AS1c.87099C>A (p.Gly29033=)
c.68184C>A (p.Gly22728=)
c.67983C>A (p.Gly22661=)
c.67608C>A (p.Gly22536=)
c.94803C>A (p.Gly31601=)
c.89880C>A (p.Gly29960=)
n.446+22989G>T
n.2043+4264G>T
c.93900C>A (p.Gly31300=)
c.67794C>A (p.Gly22598=)
c.67653C>A (p.Gly22551=)
c.93696C>A (p.Gly31232=)
c.89094C>A (p.Gly29698=)
c.89091C>A (p.Gly29697=)
c.86133C>A (p.Gly28711=)
c.67749C>A (p.Gly22583=)
c.89244C>A (p.Gly29748=)
c.89241C>A (p.Gly29747=)
c.88674C>A (p.Gly29558=)
c.86016C>A (p.Gly28672=)
c.85935C>A (p.Gly28645=)
c.67698C>A (p.Gly22566=)
c.57552C>A (p.Gly19184=)

Number of alleles fetched