Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546767C>ACA349471556TTN,TTN-AS1c.86957G>T (p.Gly28986Val)
c.68042G>T (p.Gly22681Val)
c.67841G>T (p.Gly22614Val)
c.67466G>T (p.Gly22489Val)
c.94661G>T (p.Gly31554Val)
c.89738G>T (p.Gly29913Val)
n.446+23131C>A
n.2043+4406C>A
c.93758G>T (p.Gly31253Val)
c.67652G>T (p.Gly22551Val)
c.67511G>T (p.Gly22504Val)
c.93554G>T (p.Gly31185Val)
c.88952G>T (p.Gly29651Val)
c.88949G>T (p.Gly29650Val)
c.85991G>T (p.Gly28664Val)
c.67607G>T (p.Gly22536Val)
c.89102G>T (p.Gly29701Val)
c.89099G>T (p.Gly29700Val)
c.88532G>T (p.Gly29511Val)
c.85874G>T (p.Gly28625Val)
c.85793G>T (p.Gly28598Val)
c.67556G>T (p.Gly22519Val)
c.57410G>T (p.Gly19137Val)
2g.178546767C>GCA349471563TTN,TTN-AS1c.86957G>C (p.Gly28986Ala)
c.68042G>C (p.Gly22681Ala)
c.67841G>C (p.Gly22614Ala)
c.67466G>C (p.Gly22489Ala)
c.94661G>C (p.Gly31554Ala)
c.89738G>C (p.Gly29913Ala)
n.446+23131C>G
n.2043+4406C>G
c.93758G>C (p.Gly31253Ala)
c.67652G>C (p.Gly22551Ala)
c.67511G>C (p.Gly22504Ala)
c.93554G>C (p.Gly31185Ala)
c.88952G>C (p.Gly29651Ala)
c.88949G>C (p.Gly29650Ala)
c.85991G>C (p.Gly28664Ala)
c.67607G>C (p.Gly22536Ala)
c.89102G>C (p.Gly29701Ala)
c.89099G>C (p.Gly29700Ala)
c.88532G>C (p.Gly29511Ala)
c.85874G>C (p.Gly28625Ala)
c.85793G>C (p.Gly28598Ala)
c.67556G>C (p.Gly22519Ala)
c.57410G>C (p.Gly19137Ala)
2g.178546767C>TCA349471559TTN,TTN-AS1c.86957G>A (p.Gly28986Asp)
c.68042G>A (p.Gly22681Asp)
c.67841G>A (p.Gly22614Asp)
c.67466G>A (p.Gly22489Asp)
c.94661G>A (p.Gly31554Asp)
c.89738G>A (p.Gly29913Asp)
n.446+23131C>T
n.2043+4406C>T
c.93758G>A (p.Gly31253Asp)
c.67652G>A (p.Gly22551Asp)
c.67511G>A (p.Gly22504Asp)
c.93554G>A (p.Gly31185Asp)
c.88952G>A (p.Gly29651Asp)
c.88949G>A (p.Gly29650Asp)
c.85991G>A (p.Gly28664Asp)
c.67607G>A (p.Gly22536Asp)
c.89102G>A (p.Gly29701Asp)
c.89099G>A (p.Gly29700Asp)
c.88532G>A (p.Gly29511Asp)
c.85874G>A (p.Gly28625Asp)
c.85793G>A (p.Gly28598Asp)
c.67556G>A (p.Gly22519Asp)
c.57410G>A (p.Gly19137Asp)
2g.178546768C>ACA349471567TTN,TTN-AS1c.86956G>T (p.Gly28986Cys)
c.68041G>T (p.Gly22681Cys)
c.67840G>T (p.Gly22614Cys)
c.67465G>T (p.Gly22489Cys)
c.94660G>T (p.Gly31554Cys)
c.89737G>T (p.Gly29913Cys)
n.446+23132C>A
n.2043+4407C>A
c.93757G>T (p.Gly31253Cys)
c.67651G>T (p.Gly22551Cys)
c.67510G>T (p.Gly22504Cys)
c.93553G>T (p.Gly31185Cys)
c.88951G>T (p.Gly29651Cys)
c.88948G>T (p.Gly29650Cys)
c.85990G>T (p.Gly28664Cys)
c.67606G>T (p.Gly22536Cys)
c.89101G>T (p.Gly29701Cys)
c.89098G>T (p.Gly29700Cys)
c.88531G>T (p.Gly29511Cys)
c.85873G>T (p.Gly28625Cys)
c.85792G>T (p.Gly28598Cys)
c.67555G>T (p.Gly22519Cys)
c.57409G>T (p.Gly19137Cys)
2g.178546768C>GCA349471568TTN,TTN-AS1c.86956G>C (p.Gly28986Arg)
c.68041G>C (p.Gly22681Arg)
c.67840G>C (p.Gly22614Arg)
c.67465G>C (p.Gly22489Arg)
c.94660G>C (p.Gly31554Arg)
c.89737G>C (p.Gly29913Arg)
n.446+23132C>G
n.2043+4407C>G
c.93757G>C (p.Gly31253Arg)
c.67651G>C (p.Gly22551Arg)
c.67510G>C (p.Gly22504Arg)
c.93553G>C (p.Gly31185Arg)
c.88951G>C (p.Gly29651Arg)
c.88948G>C (p.Gly29650Arg)
c.85990G>C (p.Gly28664Arg)
c.67606G>C (p.Gly22536Arg)
c.89101G>C (p.Gly29701Arg)
c.89098G>C (p.Gly29700Arg)
c.88531G>C (p.Gly29511Arg)
c.85873G>C (p.Gly28625Arg)
c.85792G>C (p.Gly28598Arg)
c.67555G>C (p.Gly22519Arg)
c.57409G>C (p.Gly19137Arg)
2g.178546768C>TCA349471574TTN,TTN-AS1c.86956G>A (p.Gly28986Ser)
c.68041G>A (p.Gly22681Ser)
c.67840G>A (p.Gly22614Ser)
c.67465G>A (p.Gly22489Ser)
c.94660G>A (p.Gly31554Ser)
c.89737G>A (p.Gly29913Ser)
n.446+23132C>T
n.2043+4407C>T
c.93757G>A (p.Gly31253Ser)
c.67651G>A (p.Gly22551Ser)
c.67510G>A (p.Gly22504Ser)
c.93553G>A (p.Gly31185Ser)
c.88951G>A (p.Gly29651Ser)
c.88948G>A (p.Gly29650Ser)
c.85990G>A (p.Gly28664Ser)
c.67606G>A (p.Gly22536Ser)
c.89101G>A (p.Gly29701Ser)
c.89098G>A (p.Gly29700Ser)
c.88531G>A (p.Gly29511Ser)
c.85873G>A (p.Gly28625Ser)
c.85792G>A (p.Gly28598Ser)
c.67555G>A (p.Gly22519Ser)
c.57409G>A (p.Gly19137Ser)
 gnomAD v4
2g.178546769A=CA1310523385TTN,TTN-AS1c.86955T= (p.Asp28985=)
c.68040T= (p.Asp22680=)
c.67839T= (p.Asp22613=)
c.67464T= (p.Asp22488=)
c.94659T= (p.Asp31553=)
c.89736T= (p.Asp29912=)
n.446+23133A=
n.2043+4408A=
c.93756T= (p.Asp31252=)
c.67650T= (p.Asp22550=)
c.67509T= (p.Asp22503=)
c.93552T= (p.Asp31184=)
c.88950T= (p.Asp29650=)
c.88947T= (p.Asp29649=)
c.85989T= (p.Asp28663=)
c.67605T= (p.Asp22535=)
c.89100T= (p.Asp29700=)
c.89097T= (p.Asp29699=)
c.88530T= (p.Asp29510=)
c.85872T= (p.Asp28624=)
c.85791T= (p.Asp28597=)
c.67554T= (p.Asp22518=)
c.57408T= (p.Asp19136=)
2g.178546769A>CCA349471580TTN,TTN-AS1c.86955T>G (p.Asp28985Glu)
c.68040T>G (p.Asp22680Glu)
c.67839T>G (p.Asp22613Glu)
c.67464T>G (p.Asp22488Glu)
c.94659T>G (p.Asp31553Glu)
c.89736T>G (p.Asp29912Glu)
n.446+23133A>C
n.2043+4408A>C
c.93756T>G (p.Asp31252Glu)
c.67650T>G (p.Asp22550Glu)
c.67509T>G (p.Asp22503Glu)
c.93552T>G (p.Asp31184Glu)
c.88950T>G (p.Asp29650Glu)
c.88947T>G (p.Asp29649Glu)
c.85989T>G (p.Asp28663Glu)
c.67605T>G (p.Asp22535Glu)
c.89100T>G (p.Asp29700Glu)
c.89097T>G (p.Asp29699Glu)
c.88530T>G (p.Asp29510Glu)
c.85872T>G (p.Asp28624Glu)
c.85791T>G (p.Asp28597Glu)
c.67554T>G (p.Asp22518Glu)
c.57408T>G (p.Asp19136Glu)
2g.178546769A>GCA430242461TTN,TTN-AS1c.86955T>C (p.Asp28985=)
c.68040T>C (p.Asp22680=)
c.67839T>C (p.Asp22613=)
c.67464T>C (p.Asp22488=)
c.94659T>C (p.Asp31553=)
c.89736T>C (p.Asp29912=)
n.446+23133A>G
n.2043+4408A>G
c.93756T>C (p.Asp31252=)
c.67650T>C (p.Asp22550=)
c.67509T>C (p.Asp22503=)
c.93552T>C (p.Asp31184=)
c.88950T>C (p.Asp29650=)
c.88947T>C (p.Asp29649=)
c.85989T>C (p.Asp28663=)
c.67605T>C (p.Asp22535=)
c.89100T>C (p.Asp29700=)
c.89097T>C (p.Asp29699=)
c.88530T>C (p.Asp29510=)
c.85872T>C (p.Asp28624=)
c.85791T>C (p.Asp28597=)
c.67554T>C (p.Asp22518=)
c.57408T>C (p.Asp19136=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546769A>TCA349471581TTN,TTN-AS1c.86955T>A (p.Asp28985Glu)
c.68040T>A (p.Asp22680Glu)
c.67839T>A (p.Asp22613Glu)
c.67464T>A (p.Asp22488Glu)
c.94659T>A (p.Asp31553Glu)
c.89736T>A (p.Asp29912Glu)
n.446+23133A>T
n.2043+4408A>T
c.93756T>A (p.Asp31252Glu)
c.67650T>A (p.Asp22550Glu)
c.67509T>A (p.Asp22503Glu)
c.93552T>A (p.Asp31184Glu)
c.88950T>A (p.Asp29650Glu)
c.88947T>A (p.Asp29649Glu)
c.85989T>A (p.Asp28663Glu)
c.67605T>A (p.Asp22535Glu)
c.89100T>A (p.Asp29700Glu)
c.89097T>A (p.Asp29699Glu)
c.88530T>A (p.Asp29510Glu)
c.85872T>A (p.Asp28624Glu)
c.85791T>A (p.Asp28597Glu)
c.67554T>A (p.Asp22518Glu)
c.57408T>A (p.Asp19136Glu)
2g.178546770T>ACA349471582TTN,TTN-AS1c.86954A>T (p.Asp28985Val)
c.68039A>T (p.Asp22680Val)
c.67838A>T (p.Asp22613Val)
c.67463A>T (p.Asp22488Val)
c.94658A>T (p.Asp31553Val)
c.89735A>T (p.Asp29912Val)
n.446+23134T>A
n.2043+4409T>A
c.93755A>T (p.Asp31252Val)
c.67649A>T (p.Asp22550Val)
c.67508A>T (p.Asp22503Val)
c.93551A>T (p.Asp31184Val)
c.88949A>T (p.Asp29650Val)
c.88946A>T (p.Asp29649Val)
c.85988A>T (p.Asp28663Val)
c.67604A>T (p.Asp22535Val)
c.89099A>T (p.Asp29700Val)
c.89096A>T (p.Asp29699Val)
c.88529A>T (p.Asp29510Val)
c.85871A>T (p.Asp28624Val)
c.85790A>T (p.Asp28597Val)
c.67553A>T (p.Asp22518Val)
c.57407A>T (p.Asp19136Val)
2g.178546770T>CCA349471583TTN,TTN-AS1c.86954A>G (p.Asp28985Gly)
c.68039A>G (p.Asp22680Gly)
c.67838A>G (p.Asp22613Gly)
c.67463A>G (p.Asp22488Gly)
c.94658A>G (p.Asp31553Gly)
c.89735A>G (p.Asp29912Gly)
n.446+23134T>C
n.2043+4409T>C
c.93755A>G (p.Asp31252Gly)
c.67649A>G (p.Asp22550Gly)
c.67508A>G (p.Asp22503Gly)
c.93551A>G (p.Asp31184Gly)
c.88949A>G (p.Asp29650Gly)
c.88946A>G (p.Asp29649Gly)
c.85988A>G (p.Asp28663Gly)
c.67604A>G (p.Asp22535Gly)
c.89099A>G (p.Asp29700Gly)
c.89096A>G (p.Asp29699Gly)
c.88529A>G (p.Asp29510Gly)
c.85871A>G (p.Asp28624Gly)
c.85790A>G (p.Asp28597Gly)
c.67553A>G (p.Asp22518Gly)
c.57407A>G (p.Asp19136Gly)
2g.178546770T>GCA349471587TTN,TTN-AS1c.86954A>C (p.Asp28985Ala)
c.68039A>C (p.Asp22680Ala)
c.67838A>C (p.Asp22613Ala)
c.67463A>C (p.Asp22488Ala)
c.94658A>C (p.Asp31553Ala)
c.89735A>C (p.Asp29912Ala)
n.446+23134T>G
n.2043+4409T>G
c.93755A>C (p.Asp31252Ala)
c.67649A>C (p.Asp22550Ala)
c.67508A>C (p.Asp22503Ala)
c.93551A>C (p.Asp31184Ala)
c.88949A>C (p.Asp29650Ala)
c.88946A>C (p.Asp29649Ala)
c.85988A>C (p.Asp28663Ala)
c.67604A>C (p.Asp22535Ala)
c.89099A>C (p.Asp29700Ala)
c.89096A>C (p.Asp29699Ala)
c.88529A>C (p.Asp29510Ala)
c.85871A>C (p.Asp28624Ala)
c.85790A>C (p.Asp28597Ala)
c.67553A>C (p.Asp22518Ala)
c.57407A>C (p.Asp19136Ala)
2g.178546770_178546773delinsTCTCCA1310523387TTN,TTN-AS1c.86951_86954delinsGAGA (p.Gly28984=)
c.68036_68039delinsGAGA (p.Gly22679=)
c.67835_67838delinsGAGA (p.Gly22612=)
c.67460_67463delinsGAGA (p.Gly22487=)
c.94655_94658delinsGAGA (p.Gly31552=)
c.89732_89735delinsGAGA (p.Gly29911=)
n.446+23134_446+23137delinsTCTC
n.2043+4409_2043+4412delinsTCTC
c.93752_93755delinsGAGA (p.Gly31251=)
c.67646_67649delinsGAGA (p.Gly22549=)
c.67505_67508delinsGAGA (p.Gly22502=)
c.93548_93551delinsGAGA (p.Gly31183=)
c.88946_88949delinsGAGA (p.Gly29649=)
c.88943_88946delinsGAGA (p.Gly29648=)
c.85985_85988delinsGAGA (p.Gly28662=)
c.67601_67604delinsGAGA (p.Gly22534=)
c.89096_89099delinsGAGA (p.Gly29699=)
c.89093_89096delinsGAGA (p.Gly29698=)
c.88526_88529delinsGAGA (p.Gly29509=)
c.85868_85871delinsGAGA (p.Gly28623=)
c.85787_85790delinsGAGA (p.Gly28596=)
c.67550_67553delinsGAGA (p.Gly22517=)
c.57404_57407delinsGAGA (p.Gly19135=)
2g.178546771C>ACA349471592TTN,TTN-AS1c.86953G>T (p.Asp28985Tyr)
c.68038G>T (p.Asp22680Tyr)
c.67837G>T (p.Asp22613Tyr)
c.67462G>T (p.Asp22488Tyr)
c.94657G>T (p.Asp31553Tyr)
c.89734G>T (p.Asp29912Tyr)
n.446+23135C>A
n.2043+4410C>A
c.93754G>T (p.Asp31252Tyr)
c.67648G>T (p.Asp22550Tyr)
c.67507G>T (p.Asp22503Tyr)
c.93550G>T (p.Asp31184Tyr)
c.88948G>T (p.Asp29650Tyr)
c.88945G>T (p.Asp29649Tyr)
c.85987G>T (p.Asp28663Tyr)
c.67603G>T (p.Asp22535Tyr)
c.89098G>T (p.Asp29700Tyr)
c.89095G>T (p.Asp29699Tyr)
c.88528G>T (p.Asp29510Tyr)
c.85870G>T (p.Asp28624Tyr)
c.85789G>T (p.Asp28597Tyr)
c.67552G>T (p.Asp22518Tyr)
c.57406G>T (p.Asp19136Tyr)
 dbSNP
2g.178546771C=CA1310523390TTN,TTN-AS1c.86953G= (p.Asp28985=)
c.68038G= (p.Asp22680=)
c.67837G= (p.Asp22613=)
c.67462G= (p.Asp22488=)
c.94657G= (p.Asp31553=)
c.89734G= (p.Asp29912=)
n.446+23135C=
n.2043+4410C=
c.93754G= (p.Asp31252=)
c.67648G= (p.Asp22550=)
c.67507G= (p.Asp22503=)
c.93550G= (p.Asp31184=)
c.88948G= (p.Asp29650=)
c.88945G= (p.Asp29649=)
c.85987G= (p.Asp28663=)
c.67603G= (p.Asp22535=)
c.89098G= (p.Asp29700=)
c.89095G= (p.Asp29699=)
c.88528G= (p.Asp29510=)
c.85870G= (p.Asp28624=)
c.85789G= (p.Asp28597=)
c.67552G= (p.Asp22518=)
c.57406G= (p.Asp19136=)
2g.178546771C>GCA349471594TTN,TTN-AS1c.86953G>C (p.Asp28985His)
c.68038G>C (p.Asp22680His)
c.67837G>C (p.Asp22613His)
c.67462G>C (p.Asp22488His)
c.94657G>C (p.Asp31553His)
c.89734G>C (p.Asp29912His)
n.446+23135C>G
n.2043+4410C>G
c.93754G>C (p.Asp31252His)
c.67648G>C (p.Asp22550His)
c.67507G>C (p.Asp22503His)
c.93550G>C (p.Asp31184His)
c.88948G>C (p.Asp29650His)
c.88945G>C (p.Asp29649His)
c.85987G>C (p.Asp28663His)
c.67603G>C (p.Asp22535His)
c.89098G>C (p.Asp29700His)
c.89095G>C (p.Asp29699His)
c.88528G>C (p.Asp29510His)
c.85870G>C (p.Asp28624His)
c.85789G>C (p.Asp28597His)
c.67552G>C (p.Asp22518His)
c.57406G>C (p.Asp19136His)
2g.178546771C>TCA349471597TTN,TTN-AS1c.86953G>A (p.Asp28985Asn)
c.68038G>A (p.Asp22680Asn)
c.67837G>A (p.Asp22613Asn)
c.67462G>A (p.Asp22488Asn)
c.94657G>A (p.Asp31553Asn)
c.89734G>A (p.Asp29912Asn)
n.446+23135C>T
n.2043+4410C>T
c.93754G>A (p.Asp31252Asn)
c.67648G>A (p.Asp22550Asn)
c.67507G>A (p.Asp22503Asn)
c.93550G>A (p.Asp31184Asn)
c.88948G>A (p.Asp29650Asn)
c.88945G>A (p.Asp29649Asn)
c.85987G>A (p.Asp28663Asn)
c.67603G>A (p.Asp22535Asn)
c.89098G>A (p.Asp29700Asn)
c.89095G>A (p.Asp29699Asn)
c.88528G>A (p.Asp29510Asn)
c.85870G>A (p.Asp28624Asn)
c.85789G>A (p.Asp28597Asn)
c.67552G>A (p.Asp22518Asn)
c.57406G>A (p.Asp19136Asn)
2g.178546773_178546775delCA10587451TTN,TTN-AS1c.86951_86953del (p.Gly28984del)
c.68036_68038del (p.Gly22679del)
c.67835_67837del (p.Gly22612del)
c.67460_67462del (p.Gly22487del)
c.94655_94657del (p.Gly31552del)
c.89732_89734del (p.Gly29911del)
n.446+23137_446+23139del
n.2043+4412_2043+4414del
c.93752_93754del (p.Gly31251del)
c.67646_67648del (p.Gly22549del)
c.67505_67507del (p.Gly22502del)
c.93548_93550del (p.Gly31183del)
c.88946_88948del (p.Gly29649del)
c.88943_88945del (p.Gly29648del)
c.85985_85987del (p.Gly28662del)
c.67601_67603del (p.Gly22534del)
c.89096_89098del (p.Gly29699del)
c.89093_89095del (p.Gly29698del)
c.88526_88528del (p.Gly29509del)
c.85868_85870del (p.Gly28623del)
c.85787_85789del (p.Gly28596del)
c.67550_67552del (p.Gly22517del)
c.57404_57406del (p.Gly19135del)
 ClinVar dbSNP
2g.178546772T>ACA430242462TTN,TTN-AS1c.86952A>T (p.Gly28984=)
c.68037A>T (p.Gly22679=)
c.67836A>T (p.Gly22612=)
c.67461A>T (p.Gly22487=)
c.94656A>T (p.Gly31552=)
c.89733A>T (p.Gly29911=)
n.446+23136T>A
n.2043+4411T>A
c.93753A>T (p.Gly31251=)
c.67647A>T (p.Gly22549=)
c.67506A>T (p.Gly22502=)
c.93549A>T (p.Gly31183=)
c.88947A>T (p.Gly29649=)
c.88944A>T (p.Gly29648=)
c.85986A>T (p.Gly28662=)
c.67602A>T (p.Gly22534=)
c.89097A>T (p.Gly29699=)
c.89094A>T (p.Gly29698=)
c.88527A>T (p.Gly29509=)
c.85869A>T (p.Gly28623=)
c.85788A>T (p.Gly28596=)
c.67551A>T (p.Gly22517=)
c.57405A>T (p.Gly19135=)
2g.178546772T>CCA430242463TTN,TTN-AS1c.86952A>G (p.Gly28984=)
c.68037A>G (p.Gly22679=)
c.67836A>G (p.Gly22612=)
c.67461A>G (p.Gly22487=)
c.94656A>G (p.Gly31552=)
c.89733A>G (p.Gly29911=)
n.446+23136T>C
n.2043+4411T>C
c.93753A>G (p.Gly31251=)
c.67647A>G (p.Gly22549=)
c.67506A>G (p.Gly22502=)
c.93549A>G (p.Gly31183=)
c.88947A>G (p.Gly29649=)
c.88944A>G (p.Gly29648=)
c.85986A>G (p.Gly28662=)
c.67602A>G (p.Gly22534=)
c.89097A>G (p.Gly29699=)
c.89094A>G (p.Gly29698=)
c.88527A>G (p.Gly29509=)
c.85869A>G (p.Gly28623=)
c.85788A>G (p.Gly28596=)
c.67551A>G (p.Gly22517=)
c.57405A>G (p.Gly19135=)
2g.178546772T>GCA430242464TTN,TTN-AS1c.86952A>C (p.Gly28984=)
c.68037A>C (p.Gly22679=)
c.67836A>C (p.Gly22612=)
c.67461A>C (p.Gly22487=)
c.94656A>C (p.Gly31552=)
c.89733A>C (p.Gly29911=)
n.446+23136T>G
n.2043+4411T>G
c.93753A>C (p.Gly31251=)
c.67647A>C (p.Gly22549=)
c.67506A>C (p.Gly22502=)
c.93549A>C (p.Gly31183=)
c.88947A>C (p.Gly29649=)
c.88944A>C (p.Gly29648=)
c.85986A>C (p.Gly28662=)
c.67602A>C (p.Gly22534=)
c.89097A>C (p.Gly29699=)
c.89094A>C (p.Gly29698=)
c.88527A>C (p.Gly29509=)
c.85869A>C (p.Gly28623=)
c.85788A>C (p.Gly28596=)
c.67551A>C (p.Gly22517=)
c.57405A>C (p.Gly19135=)
2g.178546773C>ACA349471604TTN,TTN-AS1c.86951G>T (p.Gly28984Val)
c.68036G>T (p.Gly22679Val)
c.67835G>T (p.Gly22612Val)
c.67460G>T (p.Gly22487Val)
c.94655G>T (p.Gly31552Val)
c.89732G>T (p.Gly29911Val)
n.446+23137C>A
n.2043+4412C>A
c.93752G>T (p.Gly31251Val)
c.67646G>T (p.Gly22549Val)
c.67505G>T (p.Gly22502Val)
c.93548G>T (p.Gly31183Val)
c.88946G>T (p.Gly29649Val)
c.88943G>T (p.Gly29648Val)
c.85985G>T (p.Gly28662Val)
c.67601G>T (p.Gly22534Val)
c.89096G>T (p.Gly29699Val)
c.89093G>T (p.Gly29698Val)
c.88526G>T (p.Gly29509Val)
c.85868G>T (p.Gly28623Val)
c.85787G>T (p.Gly28596Val)
c.67550G>T (p.Gly22517Val)
c.57404G>T (p.Gly19135Val)
2g.178546773C>GCA349471602TTN,TTN-AS1c.86951G>C (p.Gly28984Ala)
c.68036G>C (p.Gly22679Ala)
c.67835G>C (p.Gly22612Ala)
c.67460G>C (p.Gly22487Ala)
c.94655G>C (p.Gly31552Ala)
c.89732G>C (p.Gly29911Ala)
n.446+23137C>G
n.2043+4412C>G
c.93752G>C (p.Gly31251Ala)
c.67646G>C (p.Gly22549Ala)
c.67505G>C (p.Gly22502Ala)
c.93548G>C (p.Gly31183Ala)
c.88946G>C (p.Gly29649Ala)
c.88943G>C (p.Gly29648Ala)
c.85985G>C (p.Gly28662Ala)
c.67601G>C (p.Gly22534Ala)
c.89096G>C (p.Gly29699Ala)
c.89093G>C (p.Gly29698Ala)
c.88526G>C (p.Gly29509Ala)
c.85868G>C (p.Gly28623Ala)
c.85787G>C (p.Gly28596Ala)
c.67550G>C (p.Gly22517Ala)
c.57404G>C (p.Gly19135Ala)
 gnomAD v4
2g.178546773C>TCA349471601TTN,TTN-AS1c.86951G>A (p.Gly28984Glu)
c.68036G>A (p.Gly22679Glu)
c.67835G>A (p.Gly22612Glu)
c.67460G>A (p.Gly22487Glu)
c.94655G>A (p.Gly31552Glu)
c.89732G>A (p.Gly29911Glu)
n.446+23137C>T
n.2043+4412C>T
c.93752G>A (p.Gly31251Glu)
c.67646G>A (p.Gly22549Glu)
c.67505G>A (p.Gly22502Glu)
c.93548G>A (p.Gly31183Glu)
c.88946G>A (p.Gly29649Glu)
c.88943G>A (p.Gly29648Glu)
c.85985G>A (p.Gly28662Glu)
c.67601G>A (p.Gly22534Glu)
c.89096G>A (p.Gly29699Glu)
c.89093G>A (p.Gly29698Glu)
c.88526G>A (p.Gly29509Glu)
c.85868G>A (p.Gly28623Glu)
c.85787G>A (p.Gly28596Glu)
c.67550G>A (p.Gly22517Glu)
c.57404G>A (p.Gly19135Glu)
2g.178546774C>ACA349471608TTN,TTN-AS1c.86950G>T (p.Gly28984Ter)
c.68035G>T (p.Gly22679Ter)
c.67834G>T (p.Gly22612Ter)
c.67459G>T (p.Gly22487Ter)
c.94654G>T (p.Gly31552Ter)
c.89731G>T (p.Gly29911Ter)
n.446+23138C>A
n.2043+4413C>A
c.93751G>T (p.Gly31251Ter)
c.67645G>T (p.Gly22549Ter)
c.67504G>T (p.Gly22502Ter)
c.93547G>T (p.Gly31183Ter)
c.88945G>T (p.Gly29649Ter)
c.88942G>T (p.Gly29648Ter)
c.85984G>T (p.Gly28662Ter)
c.67600G>T (p.Gly22534Ter)
c.89095G>T (p.Gly29699Ter)
c.89092G>T (p.Gly29698Ter)
c.88525G>T (p.Gly29509Ter)
c.85867G>T (p.Gly28623Ter)
c.85786G>T (p.Gly28596Ter)
c.67549G>T (p.Gly22517Ter)
c.57403G>T (p.Gly19135Ter)
2g.178546774C=CA1310523391TTN,TTN-AS1c.86950G= (p.Gly28984=)
c.68035G= (p.Gly22679=)
c.67834G= (p.Gly22612=)
c.67459G= (p.Gly22487=)
c.94654G= (p.Gly31552=)
c.89731G= (p.Gly29911=)
n.446+23138C=
n.2043+4413C=
c.93751G= (p.Gly31251=)
c.67645G= (p.Gly22549=)
c.67504G= (p.Gly22502=)
c.93547G= (p.Gly31183=)
c.88945G= (p.Gly29649=)
c.88942G= (p.Gly29648=)
c.85984G= (p.Gly28662=)
c.67600G= (p.Gly22534=)
c.89095G= (p.Gly29699=)
c.89092G= (p.Gly29698=)
c.88525G= (p.Gly29509=)
c.85867G= (p.Gly28623=)
c.85786G= (p.Gly28596=)
c.67549G= (p.Gly22517=)
c.57403G= (p.Gly19135=)
2g.178546774C>GCA349471605TTN,TTN-AS1c.86950G>C (p.Gly28984Arg)
c.68035G>C (p.Gly22679Arg)
c.67834G>C (p.Gly22612Arg)
c.67459G>C (p.Gly22487Arg)
c.94654G>C (p.Gly31552Arg)
c.89731G>C (p.Gly29911Arg)
n.446+23138C>G
n.2043+4413C>G
c.93751G>C (p.Gly31251Arg)
c.67645G>C (p.Gly22549Arg)
c.67504G>C (p.Gly22502Arg)
c.93547G>C (p.Gly31183Arg)
c.88945G>C (p.Gly29649Arg)
c.88942G>C (p.Gly29648Arg)
c.85984G>C (p.Gly28662Arg)
c.67600G>C (p.Gly22534Arg)
c.89095G>C (p.Gly29699Arg)
c.89092G>C (p.Gly29698Arg)
c.88525G>C (p.Gly29509Arg)
c.85867G>C (p.Gly28623Arg)
c.85786G>C (p.Gly28596Arg)
c.67549G>C (p.Gly22517Arg)
c.57403G>C (p.Gly19135Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178546774C>TCA349471613TTN,TTN-AS1c.86950G>A (p.Gly28984Arg)
c.68035G>A (p.Gly22679Arg)
c.67834G>A (p.Gly22612Arg)
c.67459G>A (p.Gly22487Arg)
c.94654G>A (p.Gly31552Arg)
c.89731G>A (p.Gly29911Arg)
n.446+23138C>T
n.2043+4413C>T
c.93751G>A (p.Gly31251Arg)
c.67645G>A (p.Gly22549Arg)
c.67504G>A (p.Gly22502Arg)
c.93547G>A (p.Gly31183Arg)
c.88945G>A (p.Gly29649Arg)
c.88942G>A (p.Gly29648Arg)
c.85984G>A (p.Gly28662Arg)
c.67600G>A (p.Gly22534Arg)
c.89095G>A (p.Gly29699Arg)
c.89092G>A (p.Gly29698Arg)
c.88525G>A (p.Gly29509Arg)
c.85867G>A (p.Gly28623Arg)
c.85786G>A (p.Gly28596Arg)
c.67549G>A (p.Gly22517Arg)
c.57403G>A (p.Gly19135Arg)
2g.178546775T>ACA430242465TTN,TTN-AS1c.86949A>T (p.Val28983=)
c.68034A>T (p.Val22678=)
c.67833A>T (p.Val22611=)
c.67458A>T (p.Val22486=)
c.94653A>T (p.Val31551=)
c.89730A>T (p.Val29910=)
n.446+23139T>A
n.2043+4414T>A
c.93750A>T (p.Val31250=)
c.67644A>T (p.Val22548=)
c.67503A>T (p.Val22501=)
c.93546A>T (p.Val31182=)
c.88944A>T (p.Val29648=)
c.88941A>T (p.Val29647=)
c.85983A>T (p.Val28661=)
c.67599A>T (p.Val22533=)
c.89094A>T (p.Val29698=)
c.89091A>T (p.Val29697=)
c.88524A>T (p.Val29508=)
c.85866A>T (p.Val28622=)
c.85785A>T (p.Val28595=)
c.67548A>T (p.Val22516=)
c.57402A>T (p.Val19134=)
2g.178546775T>CCA430242466TTN,TTN-AS1c.86949A>G (p.Val28983=)
c.68034A>G (p.Val22678=)
c.67833A>G (p.Val22611=)
c.67458A>G (p.Val22486=)
c.94653A>G (p.Val31551=)
c.89730A>G (p.Val29910=)
n.446+23139T>C
n.2043+4414T>C
c.93750A>G (p.Val31250=)
c.67644A>G (p.Val22548=)
c.67503A>G (p.Val22501=)
c.93546A>G (p.Val31182=)
c.88944A>G (p.Val29648=)
c.88941A>G (p.Val29647=)
c.85983A>G (p.Val28661=)
c.67599A>G (p.Val22533=)
c.89094A>G (p.Val29698=)
c.89091A>G (p.Val29697=)
c.88524A>G (p.Val29508=)
c.85866A>G (p.Val28622=)
c.85785A>G (p.Val28595=)
c.67548A>G (p.Val22516=)
c.57402A>G (p.Val19134=)
2g.178546775T>GCA430242467TTN,TTN-AS1c.86949A>C (p.Val28983=)
c.68034A>C (p.Val22678=)
c.67833A>C (p.Val22611=)
c.67458A>C (p.Val22486=)
c.94653A>C (p.Val31551=)
c.89730A>C (p.Val29910=)
n.446+23139T>G
n.2043+4414T>G
c.93750A>C (p.Val31250=)
c.67644A>C (p.Val22548=)
c.67503A>C (p.Val22501=)
c.93546A>C (p.Val31182=)
c.88944A>C (p.Val29648=)
c.88941A>C (p.Val29647=)
c.85983A>C (p.Val28661=)
c.67599A>C (p.Val22533=)
c.89094A>C (p.Val29698=)
c.89091A>C (p.Val29697=)
c.88524A>C (p.Val29508=)
c.85866A>C (p.Val28622=)
c.85785A>C (p.Val28595=)
c.67548A>C (p.Val22516=)
c.57402A>C (p.Val19134=)
 gnomAD v4
2g.178546776A=CA1310523393TTN,TTN-AS1c.86948T= (p.Val28983=)
c.68033T= (p.Val22678=)
c.67832T= (p.Val22611=)
c.67457T= (p.Val22486=)
c.94652T= (p.Val31551=)
c.89729T= (p.Val29910=)
n.446+23140A=
n.2043+4415A=
c.93749T= (p.Val31250=)
c.67643T= (p.Val22548=)
c.67502T= (p.Val22501=)
c.93545T= (p.Val31182=)
c.88943T= (p.Val29648=)
c.88940T= (p.Val29647=)
c.85982T= (p.Val28661=)
c.67598T= (p.Val22533=)
c.89093T= (p.Val29698=)
c.89090T= (p.Val29697=)
c.88523T= (p.Val29508=)
c.85865T= (p.Val28622=)
c.85784T= (p.Val28595=)
c.67547T= (p.Val22516=)
c.57401T= (p.Val19134=)
2g.178546776A>CCA349471620TTN,TTN-AS1c.86948T>G (p.Val28983Gly)
c.68033T>G (p.Val22678Gly)
c.67832T>G (p.Val22611Gly)
c.67457T>G (p.Val22486Gly)
c.94652T>G (p.Val31551Gly)
c.89729T>G (p.Val29910Gly)
n.446+23140A>C
n.2043+4415A>C
c.93749T>G (p.Val31250Gly)
c.67643T>G (p.Val22548Gly)
c.67502T>G (p.Val22501Gly)
c.93545T>G (p.Val31182Gly)
c.88943T>G (p.Val29648Gly)
c.88940T>G (p.Val29647Gly)
c.85982T>G (p.Val28661Gly)
c.67598T>G (p.Val22533Gly)
c.89093T>G (p.Val29698Gly)
c.89090T>G (p.Val29697Gly)
c.88523T>G (p.Val29508Gly)
c.85865T>G (p.Val28622Gly)
c.85784T>G (p.Val28595Gly)
c.67547T>G (p.Val22516Gly)
c.57401T>G (p.Val19134Gly)
2g.178546776A>GCA1987085TTN,TTN-AS1c.86948T>C (p.Val28983Ala)
c.68033T>C (p.Val22678Ala)
c.67832T>C (p.Val22611Ala)
c.67457T>C (p.Val22486Ala)
c.94652T>C (p.Val31551Ala)
c.89729T>C (p.Val29910Ala)
n.446+23140A>G
n.2043+4415A>G
c.93749T>C (p.Val31250Ala)
c.67643T>C (p.Val22548Ala)
c.67502T>C (p.Val22501Ala)
c.93545T>C (p.Val31182Ala)
c.88943T>C (p.Val29648Ala)
c.88940T>C (p.Val29647Ala)
c.85982T>C (p.Val28661Ala)
c.67598T>C (p.Val22533Ala)
c.89093T>C (p.Val29698Ala)
c.89090T>C (p.Val29697Ala)
c.88523T>C (p.Val29508Ala)
c.85865T>C (p.Val28622Ala)
c.85784T>C (p.Val28595Ala)
c.67547T>C (p.Val22516Ala)
c.57401T>C (p.Val19134Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546776A>TCA1987084TTN,TTN-AS1c.86948T>A (p.Val28983Glu)
c.68033T>A (p.Val22678Glu)
c.67832T>A (p.Val22611Glu)
c.67457T>A (p.Val22486Glu)
c.94652T>A (p.Val31551Glu)
c.89729T>A (p.Val29910Glu)
n.446+23140A>T
n.2043+4415A>T
c.93749T>A (p.Val31250Glu)
c.67643T>A (p.Val22548Glu)
c.67502T>A (p.Val22501Glu)
c.93545T>A (p.Val31182Glu)
c.88943T>A (p.Val29648Glu)
c.88940T>A (p.Val29647Glu)
c.85982T>A (p.Val28661Glu)
c.67598T>A (p.Val22533Glu)
c.89093T>A (p.Val29698Glu)
c.89090T>A (p.Val29697Glu)
c.88523T>A (p.Val29508Glu)
c.85865T>A (p.Val28622Glu)
c.85784T>A (p.Val28595Glu)
c.67547T>A (p.Val22516Glu)
c.57401T>A (p.Val19134Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546777C>ACA349471621TTN,TTN-AS1c.86947G>T (p.Val28983Leu)
c.68032G>T (p.Val22678Leu)
c.67831G>T (p.Val22611Leu)
c.67456G>T (p.Val22486Leu)
c.94651G>T (p.Val31551Leu)
c.89728G>T (p.Val29910Leu)
n.446+23141C>A
n.2043+4416C>A
c.93748G>T (p.Val31250Leu)
c.67642G>T (p.Val22548Leu)
c.67501G>T (p.Val22501Leu)
c.93544G>T (p.Val31182Leu)
c.88942G>T (p.Val29648Leu)
c.88939G>T (p.Val29647Leu)
c.85981G>T (p.Val28661Leu)
c.67597G>T (p.Val22533Leu)
c.89092G>T (p.Val29698Leu)
c.89089G>T (p.Val29697Leu)
c.88522G>T (p.Val29508Leu)
c.85864G>T (p.Val28622Leu)
c.85783G>T (p.Val28595Leu)
c.67546G>T (p.Val22516Leu)
c.57400G>T (p.Val19134Leu)
2g.178546777C>GCA349471622TTN,TTN-AS1c.86947G>C (p.Val28983Leu)
c.68032G>C (p.Val22678Leu)
c.67831G>C (p.Val22611Leu)
c.67456G>C (p.Val22486Leu)
c.94651G>C (p.Val31551Leu)
c.89728G>C (p.Val29910Leu)
n.446+23141C>G
n.2043+4416C>G
c.93748G>C (p.Val31250Leu)
c.67642G>C (p.Val22548Leu)
c.67501G>C (p.Val22501Leu)
c.93544G>C (p.Val31182Leu)
c.88942G>C (p.Val29648Leu)
c.88939G>C (p.Val29647Leu)
c.85981G>C (p.Val28661Leu)
c.67597G>C (p.Val22533Leu)
c.89092G>C (p.Val29698Leu)
c.89089G>C (p.Val29697Leu)
c.88522G>C (p.Val29508Leu)
c.85864G>C (p.Val28622Leu)
c.85783G>C (p.Val28595Leu)
c.67546G>C (p.Val22516Leu)
c.57400G>C (p.Val19134Leu)
 gnomAD v4
2g.178546777C>TCA349471623TTN,TTN-AS1c.86947G>A (p.Val28983Ile)
c.68032G>A (p.Val22678Ile)
c.67831G>A (p.Val22611Ile)
c.67456G>A (p.Val22486Ile)
c.94651G>A (p.Val31551Ile)
c.89728G>A (p.Val29910Ile)
n.446+23141C>T
n.2043+4416C>T
c.93748G>A (p.Val31250Ile)
c.67642G>A (p.Val22548Ile)
c.67501G>A (p.Val22501Ile)
c.93544G>A (p.Val31182Ile)
c.88942G>A (p.Val29648Ile)
c.88939G>A (p.Val29647Ile)
c.85981G>A (p.Val28661Ile)
c.67597G>A (p.Val22533Ile)
c.89092G>A (p.Val29698Ile)
c.89089G>A (p.Val29697Ile)
c.88522G>A (p.Val29508Ile)
c.85864G>A (p.Val28622Ile)
c.85783G>A (p.Val28595Ile)
c.67546G>A (p.Val22516Ile)
c.57400G>A (p.Val19134Ile)
2g.178546778C>ACA349471624TTN,TTN-AS1c.86946G>T (p.Glu28982Asp)
c.68031G>T (p.Glu22677Asp)
c.67830G>T (p.Glu22610Asp)
c.67455G>T (p.Glu22485Asp)
c.94650G>T (p.Glu31550Asp)
c.89727G>T (p.Glu29909Asp)
n.446+23142C>A
n.2043+4417C>A
c.93747G>T (p.Glu31249Asp)
c.67641G>T (p.Glu22547Asp)
c.67500G>T (p.Glu22500Asp)
c.93543G>T (p.Glu31181Asp)
c.88941G>T (p.Glu29647Asp)
c.88938G>T (p.Glu29646Asp)
c.85980G>T (p.Glu28660Asp)
c.67596G>T (p.Glu22532Asp)
c.89091G>T (p.Glu29697Asp)
c.89088G>T (p.Glu29696Asp)
c.88521G>T (p.Glu29507Asp)
c.85863G>T (p.Glu28621Asp)
c.85782G>T (p.Glu28594Asp)
c.67545G>T (p.Glu22515Asp)
c.57399G>T (p.Glu19133Asp)
2g.178546778C=CA1310523396TTN,TTN-AS1c.86946G= (p.Glu28982=)
c.68031G= (p.Glu22677=)
c.67830G= (p.Glu22610=)
c.67455G= (p.Glu22485=)
c.94650G= (p.Glu31550=)
c.89727G= (p.Glu29909=)
n.446+23142C=
n.2043+4417C=
c.93747G= (p.Glu31249=)
c.67641G= (p.Glu22547=)
c.67500G= (p.Glu22500=)
c.93543G= (p.Glu31181=)
c.88941G= (p.Glu29647=)
c.88938G= (p.Glu29646=)
c.85980G= (p.Glu28660=)
c.67596G= (p.Glu22532=)
c.89091G= (p.Glu29697=)
c.89088G= (p.Glu29696=)
c.88521G= (p.Glu29507=)
c.85863G= (p.Glu28621=)
c.85782G= (p.Glu28594=)
c.67545G= (p.Glu22515=)
c.57399G= (p.Glu19133=)
2g.178546778C>GCA349471626TTN,TTN-AS1c.86946G>C (p.Glu28982Asp)
c.68031G>C (p.Glu22677Asp)
c.67830G>C (p.Glu22610Asp)
c.67455G>C (p.Glu22485Asp)
c.94650G>C (p.Glu31550Asp)
c.89727G>C (p.Glu29909Asp)
n.446+23142C>G
n.2043+4417C>G
c.93747G>C (p.Glu31249Asp)
c.67641G>C (p.Glu22547Asp)
c.67500G>C (p.Glu22500Asp)
c.93543G>C (p.Glu31181Asp)
c.88941G>C (p.Glu29647Asp)
c.88938G>C (p.Glu29646Asp)
c.85980G>C (p.Glu28660Asp)
c.67596G>C (p.Glu22532Asp)
c.89091G>C (p.Glu29697Asp)
c.89088G>C (p.Glu29696Asp)
c.88521G>C (p.Glu29507Asp)
c.85863G>C (p.Glu28621Asp)
c.85782G>C (p.Glu28594Asp)
c.67545G>C (p.Glu22515Asp)
c.57399G>C (p.Glu19133Asp)
2g.178546778C>TCA430242468TTN,TTN-AS1c.86946G>A (p.Glu28982=)
c.68031G>A (p.Glu22677=)
c.67830G>A (p.Glu22610=)
c.67455G>A (p.Glu22485=)
c.94650G>A (p.Glu31550=)
c.89727G>A (p.Glu29909=)
n.446+23142C>T
n.2043+4417C>T
c.93747G>A (p.Glu31249=)
c.67641G>A (p.Glu22547=)
c.67500G>A (p.Glu22500=)
c.93543G>A (p.Glu31181=)
c.88941G>A (p.Glu29647=)
c.88938G>A (p.Glu29646=)
c.85980G>A (p.Glu28660=)
c.67596G>A (p.Glu22532=)
c.89091G>A (p.Glu29697=)
c.89088G>A (p.Glu29696=)
c.88521G>A (p.Glu29507=)
c.85863G>A (p.Glu28621=)
c.85782G>A (p.Glu28594=)
c.67545G>A (p.Glu22515=)
c.57399G>A (p.Glu19133=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546779T>ACA349471638TTN,TTN-AS1c.86945A>T (p.Glu28982Val)
c.68030A>T (p.Glu22677Val)
c.67829A>T (p.Glu22610Val)
c.67454A>T (p.Glu22485Val)
c.94649A>T (p.Glu31550Val)
c.89726A>T (p.Glu29909Val)
n.446+23143T>A
n.2043+4418T>A
c.93746A>T (p.Glu31249Val)
c.67640A>T (p.Glu22547Val)
c.67499A>T (p.Glu22500Val)
c.93542A>T (p.Glu31181Val)
c.88940A>T (p.Glu29647Val)
c.88937A>T (p.Glu29646Val)
c.85979A>T (p.Glu28660Val)
c.67595A>T (p.Glu22532Val)
c.89090A>T (p.Glu29697Val)
c.89087A>T (p.Glu29696Val)
c.88520A>T (p.Glu29507Val)
c.85862A>T (p.Glu28621Val)
c.85781A>T (p.Glu28594Val)
c.67544A>T (p.Glu22515Val)
c.57398A>T (p.Glu19133Val)
2g.178546779T>CCA349471644TTN,TTN-AS1c.86945A>G (p.Glu28982Gly)
c.68030A>G (p.Glu22677Gly)
c.67829A>G (p.Glu22610Gly)
c.67454A>G (p.Glu22485Gly)
c.94649A>G (p.Glu31550Gly)
c.89726A>G (p.Glu29909Gly)
n.446+23143T>C
n.2043+4418T>C
c.93746A>G (p.Glu31249Gly)
c.67640A>G (p.Glu22547Gly)
c.67499A>G (p.Glu22500Gly)
c.93542A>G (p.Glu31181Gly)
c.88940A>G (p.Glu29647Gly)
c.88937A>G (p.Glu29646Gly)
c.85979A>G (p.Glu28660Gly)
c.67595A>G (p.Glu22532Gly)
c.89090A>G (p.Glu29697Gly)
c.89087A>G (p.Glu29696Gly)
c.88520A>G (p.Glu29507Gly)
c.85862A>G (p.Glu28621Gly)
c.85781A>G (p.Glu28594Gly)
c.67544A>G (p.Glu22515Gly)
c.57398A>G (p.Glu19133Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546779T>GCA349471649TTN,TTN-AS1c.86945A>C (p.Glu28982Ala)
c.68030A>C (p.Glu22677Ala)
c.67829A>C (p.Glu22610Ala)
c.67454A>C (p.Glu22485Ala)
c.94649A>C (p.Glu31550Ala)
c.89726A>C (p.Glu29909Ala)
n.446+23143T>G
n.2043+4418T>G
c.93746A>C (p.Glu31249Ala)
c.67640A>C (p.Glu22547Ala)
c.67499A>C (p.Glu22500Ala)
c.93542A>C (p.Glu31181Ala)
c.88940A>C (p.Glu29647Ala)
c.88937A>C (p.Glu29646Ala)
c.85979A>C (p.Glu28660Ala)
c.67595A>C (p.Glu22532Ala)
c.89090A>C (p.Glu29697Ala)
c.89087A>C (p.Glu29696Ala)
c.88520A>C (p.Glu29507Ala)
c.85862A>C (p.Glu28621Ala)
c.85781A>C (p.Glu28594Ala)
c.67544A>C (p.Glu22515Ala)
c.57398A>C (p.Glu19133Ala)
 gnomAD v4
2g.178546779T=CA1310523398TTN,TTN-AS1c.86945A= (p.Glu28982=)
c.68030A= (p.Glu22677=)
c.67829A= (p.Glu22610=)
c.67454A= (p.Glu22485=)
c.94649A= (p.Glu31550=)
c.89726A= (p.Glu29909=)
n.446+23143T=
n.2043+4418T=
c.93746A= (p.Glu31249=)
c.67640A= (p.Glu22547=)
c.67499A= (p.Glu22500=)
c.93542A= (p.Glu31181=)
c.88940A= (p.Glu29647=)
c.88937A= (p.Glu29646=)
c.85979A= (p.Glu28660=)
c.67595A= (p.Glu22532=)
c.89090A= (p.Glu29697=)
c.89087A= (p.Glu29696=)
c.88520A= (p.Glu29507=)
c.85862A= (p.Glu28621=)
c.85781A= (p.Glu28594=)
c.67544A= (p.Glu22515=)
c.57398A= (p.Glu19133=)
2g.178546780C>ACA349471656TTN,TTN-AS1c.86944G>T (p.Glu28982Ter)
c.68029G>T (p.Glu22677Ter)
c.67828G>T (p.Glu22610Ter)
c.67453G>T (p.Glu22485Ter)
c.94648G>T (p.Glu31550Ter)
c.89725G>T (p.Glu29909Ter)
n.446+23144C>A
n.2043+4419C>A
c.93745G>T (p.Glu31249Ter)
c.67639G>T (p.Glu22547Ter)
c.67498G>T (p.Glu22500Ter)
c.93541G>T (p.Glu31181Ter)
c.88939G>T (p.Glu29647Ter)
c.88936G>T (p.Glu29646Ter)
c.85978G>T (p.Glu28660Ter)
c.67594G>T (p.Glu22532Ter)
c.89089G>T (p.Glu29697Ter)
c.89086G>T (p.Glu29696Ter)
c.88519G>T (p.Glu29507Ter)
c.85861G>T (p.Glu28621Ter)
c.85780G>T (p.Glu28594Ter)
c.67543G>T (p.Glu22515Ter)
c.57397G>T (p.Glu19133Ter)
2g.178546780C>GCA349471653TTN,TTN-AS1c.86944G>C (p.Glu28982Gln)
c.68029G>C (p.Glu22677Gln)
c.67828G>C (p.Glu22610Gln)
c.67453G>C (p.Glu22485Gln)
c.94648G>C (p.Glu31550Gln)
c.89725G>C (p.Glu29909Gln)
n.446+23144C>G
n.2043+4419C>G
c.93745G>C (p.Glu31249Gln)
c.67639G>C (p.Glu22547Gln)
c.67498G>C (p.Glu22500Gln)
c.93541G>C (p.Glu31181Gln)
c.88939G>C (p.Glu29647Gln)
c.88936G>C (p.Glu29646Gln)
c.85978G>C (p.Glu28660Gln)
c.67594G>C (p.Glu22532Gln)
c.89089G>C (p.Glu29697Gln)
c.89086G>C (p.Glu29696Gln)
c.88519G>C (p.Glu29507Gln)
c.85861G>C (p.Glu28621Gln)
c.85780G>C (p.Glu28594Gln)
c.67543G>C (p.Glu22515Gln)
c.57397G>C (p.Glu19133Gln)
2g.178546780C>TCA349471651TTN,TTN-AS1c.86944G>A (p.Glu28982Lys)
c.68029G>A (p.Glu22677Lys)
c.67828G>A (p.Glu22610Lys)
c.67453G>A (p.Glu22485Lys)
c.94648G>A (p.Glu31550Lys)
c.89725G>A (p.Glu29909Lys)
n.446+23144C>T
n.2043+4419C>T
c.93745G>A (p.Glu31249Lys)
c.67639G>A (p.Glu22547Lys)
c.67498G>A (p.Glu22500Lys)
c.93541G>A (p.Glu31181Lys)
c.88939G>A (p.Glu29647Lys)
c.88936G>A (p.Glu29646Lys)
c.85978G>A (p.Glu28660Lys)
c.67594G>A (p.Glu22532Lys)
c.89089G>A (p.Glu29697Lys)
c.89086G>A (p.Glu29696Lys)
c.88519G>A (p.Glu29507Lys)
c.85861G>A (p.Glu28621Lys)
c.85780G>A (p.Glu28594Lys)
c.67543G>A (p.Glu22515Lys)
c.57397G>A (p.Glu19133Lys)
 ClinVar

Number of alleles fetched