Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546674A>CCA349470646TTN,TTN-AS1c.87050T>G (p.Leu29017Ter)
c.68135T>G (p.Leu22712Ter)
c.67934T>G (p.Leu22645Ter)
c.67559T>G (p.Leu22520Ter)
c.94754T>G (p.Leu31585Ter)
c.89831T>G (p.Leu29944Ter)
n.446+23038A>C
n.2043+4313A>C
c.93851T>G (p.Leu31284Ter)
c.67745T>G (p.Leu22582Ter)
c.67604T>G (p.Leu22535Ter)
c.93647T>G (p.Leu31216Ter)
c.89045T>G (p.Leu29682Ter)
c.89042T>G (p.Leu29681Ter)
c.86084T>G (p.Leu28695Ter)
c.67700T>G (p.Leu22567Ter)
c.89195T>G (p.Leu29732Ter)
c.89192T>G (p.Leu29731Ter)
c.88625T>G (p.Leu29542Ter)
c.85967T>G (p.Leu28656Ter)
c.85886T>G (p.Leu28629Ter)
c.67649T>G (p.Leu22550Ter)
c.57503T>G (p.Leu19168Ter)
 ClinVar dbSNP
2g.178546674A>GCA349470658TTN,TTN-AS1c.87050T>C (p.Leu29017Ser)
c.68135T>C (p.Leu22712Ser)
c.67934T>C (p.Leu22645Ser)
c.67559T>C (p.Leu22520Ser)
c.94754T>C (p.Leu31585Ser)
c.89831T>C (p.Leu29944Ser)
n.446+23038A>G
n.2043+4313A>G
c.93851T>C (p.Leu31284Ser)
c.67745T>C (p.Leu22582Ser)
c.67604T>C (p.Leu22535Ser)
c.93647T>C (p.Leu31216Ser)
c.89045T>C (p.Leu29682Ser)
c.89042T>C (p.Leu29681Ser)
c.86084T>C (p.Leu28695Ser)
c.67700T>C (p.Leu22567Ser)
c.89195T>C (p.Leu29732Ser)
c.89192T>C (p.Leu29731Ser)
c.88625T>C (p.Leu29542Ser)
c.85967T>C (p.Leu28656Ser)
c.85886T>C (p.Leu28629Ser)
c.67649T>C (p.Leu22550Ser)
c.57503T>C (p.Leu19168Ser)
 gnomAD v4
2g.178546674A>TCA349470650TTN,TTN-AS1c.87050T>A (p.Leu29017Ter)
c.68135T>A (p.Leu22712Ter)
c.67934T>A (p.Leu22645Ter)
c.67559T>A (p.Leu22520Ter)
c.94754T>A (p.Leu31585Ter)
c.89831T>A (p.Leu29944Ter)
n.446+23038A>T
n.2043+4313A>T
c.93851T>A (p.Leu31284Ter)
c.67745T>A (p.Leu22582Ter)
c.67604T>A (p.Leu22535Ter)
c.93647T>A (p.Leu31216Ter)
c.89045T>A (p.Leu29682Ter)
c.89042T>A (p.Leu29681Ter)
c.86084T>A (p.Leu28695Ter)
c.67700T>A (p.Leu22567Ter)
c.89195T>A (p.Leu29732Ter)
c.89192T>A (p.Leu29731Ter)
c.88625T>A (p.Leu29542Ter)
c.85967T>A (p.Leu28656Ter)
c.85886T>A (p.Leu28629Ter)
c.67649T>A (p.Leu22550Ter)
c.57503T>A (p.Leu19168Ter)
2g.178546675A>CCA349470661TTN,TTN-AS1c.87049T>G (p.Leu29017Val)
c.68134T>G (p.Leu22712Val)
c.67933T>G (p.Leu22645Val)
c.67558T>G (p.Leu22520Val)
c.94753T>G (p.Leu31585Val)
c.89830T>G (p.Leu29944Val)
n.446+23039A>C
n.2043+4314A>C
c.93850T>G (p.Leu31284Val)
c.67744T>G (p.Leu22582Val)
c.67603T>G (p.Leu22535Val)
c.93646T>G (p.Leu31216Val)
c.89044T>G (p.Leu29682Val)
c.89041T>G (p.Leu29681Val)
c.86083T>G (p.Leu28695Val)
c.67699T>G (p.Leu22567Val)
c.89194T>G (p.Leu29732Val)
c.89191T>G (p.Leu29731Val)
c.88624T>G (p.Leu29542Val)
c.85966T>G (p.Leu28656Val)
c.85885T>G (p.Leu28629Val)
c.67648T>G (p.Leu22550Val)
c.57502T>G (p.Leu19168Val)
2g.178546675A>GCA430242404TTN,TTN-AS1c.87049T>C (p.Leu29017=)
c.68134T>C (p.Leu22712=)
c.67933T>C (p.Leu22645=)
c.67558T>C (p.Leu22520=)
c.94753T>C (p.Leu31585=)
c.89830T>C (p.Leu29944=)
n.446+23039A>G
n.2043+4314A>G
c.93850T>C (p.Leu31284=)
c.67744T>C (p.Leu22582=)
c.67603T>C (p.Leu22535=)
c.93646T>C (p.Leu31216=)
c.89044T>C (p.Leu29682=)
c.89041T>C (p.Leu29681=)
c.86083T>C (p.Leu28695=)
c.67699T>C (p.Leu22567=)
c.89194T>C (p.Leu29732=)
c.89191T>C (p.Leu29731=)
c.88624T>C (p.Leu29542=)
c.85966T>C (p.Leu28656=)
c.85885T>C (p.Leu28629=)
c.67648T>C (p.Leu22550=)
c.57502T>C (p.Leu19168=)
2g.178546675A>TCA349470662TTN,TTN-AS1c.87049T>A (p.Leu29017Ile)
c.68134T>A (p.Leu22712Ile)
c.67933T>A (p.Leu22645Ile)
c.67558T>A (p.Leu22520Ile)
c.94753T>A (p.Leu31585Ile)
c.89830T>A (p.Leu29944Ile)
n.446+23039A>T
n.2043+4314A>T
c.93850T>A (p.Leu31284Ile)
c.67744T>A (p.Leu22582Ile)
c.67603T>A (p.Leu22535Ile)
c.93646T>A (p.Leu31216Ile)
c.89044T>A (p.Leu29682Ile)
c.89041T>A (p.Leu29681Ile)
c.86083T>A (p.Leu28695Ile)
c.67699T>A (p.Leu22567Ile)
c.89194T>A (p.Leu29732Ile)
c.89191T>A (p.Leu29731Ile)
c.88624T>A (p.Leu29542Ile)
c.85966T>A (p.Leu28656Ile)
c.85885T>A (p.Leu28629Ile)
c.67648T>A (p.Leu22550Ile)
c.57502T>A (p.Leu19168Ile)
2g.178546679_178546680dupCA2580614427TTN,TTN-AS1c.87048_87049dup (p.Leu29017CysfsTer2)
c.68133_68134dup (p.Leu22712CysfsTer2)
c.67932_67933dup (p.Leu22645CysfsTer2)
c.67557_67558dup (p.Leu22520CysfsTer2)
c.94752_94753dup (p.Leu31585CysfsTer2)
c.89829_89830dup (p.Leu29944CysfsTer2)
n.446+23043_446+23044dup
n.2043+4318_2043+4319dup
c.93849_93850dup (p.Leu31284CysfsTer2)
c.67743_67744dup (p.Leu22582CysfsTer2)
c.67602_67603dup (p.Leu22535CysfsTer2)
c.93645_93646dup (p.Leu31216CysfsTer2)
c.89043_89044dup (p.Leu29682CysfsTer2)
c.89040_89041dup (p.Leu29681CysfsTer2)
c.86082_86083dup (p.Leu28695CysfsTer2)
c.67698_67699dup (p.Leu22567CysfsTer2)
c.89193_89194dup (p.Leu29732CysfsTer2)
c.89190_89191dup (p.Leu29731CysfsTer2)
c.88623_88624dup (p.Leu29542CysfsTer2)
c.85965_85966dup (p.Leu28656CysfsTer2)
c.85884_85885dup (p.Leu28629CysfsTer2)
c.67647_67648dup (p.Leu22550CysfsTer2)
c.57501_57502dup (p.Leu19168CysfsTer2)
 ClinVar
2g.178546676C>ACA60972515TTN,TTN-AS1c.87048G>T (p.Val29016=)
c.68133G>T (p.Val22711=)
c.67932G>T (p.Val22644=)
c.67557G>T (p.Val22519=)
c.94752G>T (p.Val31584=)
c.89829G>T (p.Val29943=)
n.446+23040C>A
n.2043+4315C>A
c.93849G>T (p.Val31283=)
c.67743G>T (p.Val22581=)
c.67602G>T (p.Val22534=)
c.93645G>T (p.Val31215=)
c.89043G>T (p.Val29681=)
c.89040G>T (p.Val29680=)
c.86082G>T (p.Val28694=)
c.67698G>T (p.Val22566=)
c.89193G>T (p.Val29731=)
c.89190G>T (p.Val29730=)
c.88623G>T (p.Val29541=)
c.85965G>T (p.Val28655=)
c.85884G>T (p.Val28628=)
c.67647G>T (p.Val22549=)
c.57501G>T (p.Val19167=)
 dbSNP
2g.178546676C=CA1310523311TTN,TTN-AS1c.87048G= (p.Val29016=)
c.68133G= (p.Val22711=)
c.67932G= (p.Val22644=)
c.67557G= (p.Val22519=)
c.94752G= (p.Val31584=)
c.89829G= (p.Val29943=)
n.446+23040C=
n.2043+4315C=
c.93849G= (p.Val31283=)
c.67743G= (p.Val22581=)
c.67602G= (p.Val22534=)
c.93645G= (p.Val31215=)
c.89043G= (p.Val29681=)
c.89040G= (p.Val29680=)
c.86082G= (p.Val28694=)
c.67698G= (p.Val22566=)
c.89193G= (p.Val29731=)
c.89190G= (p.Val29730=)
c.88623G= (p.Val29541=)
c.85965G= (p.Val28655=)
c.85884G= (p.Val28628=)
c.67647G= (p.Val22549=)
c.57501G= (p.Val19167=)
2g.178546676C>GCA430242405TTN,TTN-AS1c.87048G>C (p.Val29016=)
c.68133G>C (p.Val22711=)
c.67932G>C (p.Val22644=)
c.67557G>C (p.Val22519=)
c.94752G>C (p.Val31584=)
c.89829G>C (p.Val29943=)
n.446+23040C>G
n.2043+4315C>G
c.93849G>C (p.Val31283=)
c.67743G>C (p.Val22581=)
c.67602G>C (p.Val22534=)
c.93645G>C (p.Val31215=)
c.89043G>C (p.Val29681=)
c.89040G>C (p.Val29680=)
c.86082G>C (p.Val28694=)
c.67698G>C (p.Val22566=)
c.89193G>C (p.Val29731=)
c.89190G>C (p.Val29730=)
c.88623G>C (p.Val29541=)
c.85965G>C (p.Val28655=)
c.85884G>C (p.Val28628=)
c.67647G>C (p.Val22549=)
c.57501G>C (p.Val19167=)
2g.178546676C>TCA430242406TTN,TTN-AS1c.87048G>A (p.Val29016=)
c.68133G>A (p.Val22711=)
c.67932G>A (p.Val22644=)
c.67557G>A (p.Val22519=)
c.94752G>A (p.Val31584=)
c.89829G>A (p.Val29943=)
n.446+23040C>T
n.2043+4315C>T
c.93849G>A (p.Val31283=)
c.67743G>A (p.Val22581=)
c.67602G>A (p.Val22534=)
c.93645G>A (p.Val31215=)
c.89043G>A (p.Val29681=)
c.89040G>A (p.Val29680=)
c.86082G>A (p.Val28694=)
c.67698G>A (p.Val22566=)
c.89193G>A (p.Val29731=)
c.89190G>A (p.Val29730=)
c.88623G>A (p.Val29541=)
c.85965G>A (p.Val28655=)
c.85884G>A (p.Val28628=)
c.67647G>A (p.Val22549=)
c.57501G>A (p.Val19167=)
2g.178546677A=CA1310523313TTN,TTN-AS1c.87047T= (p.Val29016=)
c.68132T= (p.Val22711=)
c.67931T= (p.Val22644=)
c.67556T= (p.Val22519=)
c.94751T= (p.Val31584=)
c.89828T= (p.Val29943=)
n.446+23041A=
n.2043+4316A=
c.93848T= (p.Val31283=)
c.67742T= (p.Val22581=)
c.67601T= (p.Val22534=)
c.93644T= (p.Val31215=)
c.89042T= (p.Val29681=)
c.89039T= (p.Val29680=)
c.86081T= (p.Val28694=)
c.67697T= (p.Val22566=)
c.89192T= (p.Val29731=)
c.89189T= (p.Val29730=)
c.88622T= (p.Val29541=)
c.85964T= (p.Val28655=)
c.85883T= (p.Val28628=)
c.67646T= (p.Val22549=)
c.57500T= (p.Val19167=)
2g.178546677A>CCA349470666TTN,TTN-AS1c.87047T>G (p.Val29016Gly)
c.68132T>G (p.Val22711Gly)
c.67931T>G (p.Val22644Gly)
c.67556T>G (p.Val22519Gly)
c.94751T>G (p.Val31584Gly)
c.89828T>G (p.Val29943Gly)
n.446+23041A>C
n.2043+4316A>C
c.93848T>G (p.Val31283Gly)
c.67742T>G (p.Val22581Gly)
c.67601T>G (p.Val22534Gly)
c.93644T>G (p.Val31215Gly)
c.89042T>G (p.Val29681Gly)
c.89039T>G (p.Val29680Gly)
c.86081T>G (p.Val28694Gly)
c.67697T>G (p.Val22566Gly)
c.89192T>G (p.Val29731Gly)
c.89189T>G (p.Val29730Gly)
c.88622T>G (p.Val29541Gly)
c.85964T>G (p.Val28655Gly)
c.85883T>G (p.Val28628Gly)
c.67646T>G (p.Val22549Gly)
c.57500T>G (p.Val19167Gly)
2g.178546677A>GCA349470680TTN,TTN-AS1c.87047T>C (p.Val29016Ala)
c.68132T>C (p.Val22711Ala)
c.67931T>C (p.Val22644Ala)
c.67556T>C (p.Val22519Ala)
c.94751T>C (p.Val31584Ala)
c.89828T>C (p.Val29943Ala)
n.446+23041A>G
n.2043+4316A>G
c.93848T>C (p.Val31283Ala)
c.67742T>C (p.Val22581Ala)
c.67601T>C (p.Val22534Ala)
c.93644T>C (p.Val31215Ala)
c.89042T>C (p.Val29681Ala)
c.89039T>C (p.Val29680Ala)
c.86081T>C (p.Val28694Ala)
c.67697T>C (p.Val22566Ala)
c.89192T>C (p.Val29731Ala)
c.89189T>C (p.Val29730Ala)
c.88622T>C (p.Val29541Ala)
c.85964T>C (p.Val28655Ala)
c.85883T>C (p.Val28628Ala)
c.67646T>C (p.Val22549Ala)
c.57500T>C (p.Val19167Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178546677A>TCA349470682TTN,TTN-AS1c.87047T>A (p.Val29016Glu)
c.68132T>A (p.Val22711Glu)
c.67931T>A (p.Val22644Glu)
c.67556T>A (p.Val22519Glu)
c.94751T>A (p.Val31584Glu)
c.89828T>A (p.Val29943Glu)
n.446+23041A>T
n.2043+4316A>T
c.93848T>A (p.Val31283Glu)
c.67742T>A (p.Val22581Glu)
c.67601T>A (p.Val22534Glu)
c.93644T>A (p.Val31215Glu)
c.89042T>A (p.Val29681Glu)
c.89039T>A (p.Val29680Glu)
c.86081T>A (p.Val28694Glu)
c.67697T>A (p.Val22566Glu)
c.89192T>A (p.Val29731Glu)
c.89189T>A (p.Val29730Glu)
c.88622T>A (p.Val29541Glu)
c.85964T>A (p.Val28655Glu)
c.85883T>A (p.Val28628Glu)
c.67646T>A (p.Val22549Glu)
c.57500T>A (p.Val19167Glu)
2g.178546678C>ACA349470684TTN,TTN-AS1c.87046G>T (p.Val29016Leu)
c.68131G>T (p.Val22711Leu)
c.67930G>T (p.Val22644Leu)
c.67555G>T (p.Val22519Leu)
c.94750G>T (p.Val31584Leu)
c.89827G>T (p.Val29943Leu)
n.446+23042C>A
n.2043+4317C>A
c.93847G>T (p.Val31283Leu)
c.67741G>T (p.Val22581Leu)
c.67600G>T (p.Val22534Leu)
c.93643G>T (p.Val31215Leu)
c.89041G>T (p.Val29681Leu)
c.89038G>T (p.Val29680Leu)
c.86080G>T (p.Val28694Leu)
c.67696G>T (p.Val22566Leu)
c.89191G>T (p.Val29731Leu)
c.89188G>T (p.Val29730Leu)
c.88621G>T (p.Val29541Leu)
c.85963G>T (p.Val28655Leu)
c.85882G>T (p.Val28628Leu)
c.67645G>T (p.Val22549Leu)
c.57499G>T (p.Val19167Leu)
2g.178546678C>GCA349470691TTN,TTN-AS1c.87046G>C (p.Val29016Leu)
c.68131G>C (p.Val22711Leu)
c.67930G>C (p.Val22644Leu)
c.67555G>C (p.Val22519Leu)
c.94750G>C (p.Val31584Leu)
c.89827G>C (p.Val29943Leu)
n.446+23042C>G
n.2043+4317C>G
c.93847G>C (p.Val31283Leu)
c.67741G>C (p.Val22581Leu)
c.67600G>C (p.Val22534Leu)
c.93643G>C (p.Val31215Leu)
c.89041G>C (p.Val29681Leu)
c.89038G>C (p.Val29680Leu)
c.86080G>C (p.Val28694Leu)
c.67696G>C (p.Val22566Leu)
c.89191G>C (p.Val29731Leu)
c.89188G>C (p.Val29730Leu)
c.88621G>C (p.Val29541Leu)
c.85963G>C (p.Val28655Leu)
c.85882G>C (p.Val28628Leu)
c.67645G>C (p.Val22549Leu)
c.57499G>C (p.Val19167Leu)
2g.178546678C>TCA349470695TTN,TTN-AS1c.87046G>A (p.Val29016Met)
c.68131G>A (p.Val22711Met)
c.67930G>A (p.Val22644Met)
c.67555G>A (p.Val22519Met)
c.94750G>A (p.Val31584Met)
c.89827G>A (p.Val29943Met)
n.446+23042C>T
n.2043+4317C>T
c.93847G>A (p.Val31283Met)
c.67741G>A (p.Val22581Met)
c.67600G>A (p.Val22534Met)
c.93643G>A (p.Val31215Met)
c.89041G>A (p.Val29681Met)
c.89038G>A (p.Val29680Met)
c.86080G>A (p.Val28694Met)
c.67696G>A (p.Val22566Met)
c.89191G>A (p.Val29731Met)
c.89188G>A (p.Val29730Met)
c.88621G>A (p.Val29541Met)
c.85963G>A (p.Val28655Met)
c.85882G>A (p.Val28628Met)
c.67645G>A (p.Val22549Met)
c.57499G>A (p.Val19167Met)
 gnomAD v4
2g.178546679A>CCA430242407TTN,TTN-AS1c.87045T>G (p.Arg29015=)
c.68130T>G (p.Arg22710=)
c.67929T>G (p.Arg22643=)
c.67554T>G (p.Arg22518=)
c.94749T>G (p.Arg31583=)
c.89826T>G (p.Arg29942=)
n.446+23043A>C
n.2043+4318A>C
c.93846T>G (p.Arg31282=)
c.67740T>G (p.Arg22580=)
c.67599T>G (p.Arg22533=)
c.93642T>G (p.Arg31214=)
c.89040T>G (p.Arg29680=)
c.89037T>G (p.Arg29679=)
c.86079T>G (p.Arg28693=)
c.67695T>G (p.Arg22565=)
c.89190T>G (p.Arg29730=)
c.89187T>G (p.Arg29729=)
c.88620T>G (p.Arg29540=)
c.85962T>G (p.Arg28654=)
c.85881T>G (p.Arg28627=)
c.67644T>G (p.Arg22548=)
c.57498T>G (p.Arg19166=)
2g.178546679A>GCA430242408TTN,TTN-AS1c.87045T>C (p.Arg29015=)
c.68130T>C (p.Arg22710=)
c.67929T>C (p.Arg22643=)
c.67554T>C (p.Arg22518=)
c.94749T>C (p.Arg31583=)
c.89826T>C (p.Arg29942=)
n.446+23043A>G
n.2043+4318A>G
c.93846T>C (p.Arg31282=)
c.67740T>C (p.Arg22580=)
c.67599T>C (p.Arg22533=)
c.93642T>C (p.Arg31214=)
c.89040T>C (p.Arg29680=)
c.89037T>C (p.Arg29679=)
c.86079T>C (p.Arg28693=)
c.67695T>C (p.Arg22565=)
c.89190T>C (p.Arg29730=)
c.89187T>C (p.Arg29729=)
c.88620T>C (p.Arg29540=)
c.85962T>C (p.Arg28654=)
c.85881T>C (p.Arg28627=)
c.67644T>C (p.Arg22548=)
c.57498T>C (p.Arg19166=)
 ClinVar
2g.178546679A>TCA430242409TTN,TTN-AS1c.87045T>A (p.Arg29015=)
c.68130T>A (p.Arg22710=)
c.67929T>A (p.Arg22643=)
c.67554T>A (p.Arg22518=)
c.94749T>A (p.Arg31583=)
c.89826T>A (p.Arg29942=)
n.446+23043A>T
n.2043+4318A>T
c.93846T>A (p.Arg31282=)
c.67740T>A (p.Arg22580=)
c.67599T>A (p.Arg22533=)
c.93642T>A (p.Arg31214=)
c.89040T>A (p.Arg29680=)
c.89037T>A (p.Arg29679=)
c.86079T>A (p.Arg28693=)
c.67695T>A (p.Arg22565=)
c.89190T>A (p.Arg29730=)
c.89187T>A (p.Arg29729=)
c.88620T>A (p.Arg29540=)
c.85962T>A (p.Arg28654=)
c.85881T>A (p.Arg28627=)
c.67644T>A (p.Arg22548=)
c.57498T>A (p.Arg19166=)
2g.178546679_178546681delinsACGCA1310523315TTN,TTN-AS1c.87043_87045delinsCGT (p.Arg29015=)
c.68128_68130delinsCGT (p.Arg22710=)
c.67927_67929delinsCGT (p.Arg22643=)
c.67552_67554delinsCGT (p.Arg22518=)
c.94747_94749delinsCGT (p.Arg31583=)
c.89824_89826delinsCGT (p.Arg29942=)
n.446+23043_446+23045delinsACG
n.2043+4318_2043+4320delinsACG
c.93844_93846delinsCGT (p.Arg31282=)
c.67738_67740delinsCGT (p.Arg22580=)
c.67597_67599delinsCGT (p.Arg22533=)
c.93640_93642delinsCGT (p.Arg31214=)
c.89038_89040delinsCGT (p.Arg29680=)
c.89035_89037delinsCGT (p.Arg29679=)
c.86077_86079delinsCGT (p.Arg28693=)
c.67693_67695delinsCGT (p.Arg22565=)
c.89188_89190delinsCGT (p.Arg29730=)
c.89185_89187delinsCGT (p.Arg29729=)
c.88618_88620delinsCGT (p.Arg29540=)
c.85960_85962delinsCGT (p.Arg28654=)
c.85879_85881delinsCGT (p.Arg28627=)
c.67642_67644delinsCGT (p.Arg22548=)
c.57496_57498delinsCGT (p.Arg19166=)
2g.178546680C>ACA349470698TTN,TTN-AS1c.87044G>T (p.Arg29015Leu)
c.68129G>T (p.Arg22710Leu)
c.67928G>T (p.Arg22643Leu)
c.67553G>T (p.Arg22518Leu)
c.94748G>T (p.Arg31583Leu)
c.89825G>T (p.Arg29942Leu)
n.446+23044C>A
n.2043+4319C>A
c.93845G>T (p.Arg31282Leu)
c.67739G>T (p.Arg22580Leu)
c.67598G>T (p.Arg22533Leu)
c.93641G>T (p.Arg31214Leu)
c.89039G>T (p.Arg29680Leu)
c.89036G>T (p.Arg29679Leu)
c.86078G>T (p.Arg28693Leu)
c.67694G>T (p.Arg22565Leu)
c.89189G>T (p.Arg29730Leu)
c.89186G>T (p.Arg29729Leu)
c.88619G>T (p.Arg29540Leu)
c.85961G>T (p.Arg28654Leu)
c.85880G>T (p.Arg28627Leu)
c.67643G>T (p.Arg22548Leu)
c.57497G>T (p.Arg19166Leu)
 dbSNP gnomAD v4
2g.178546680C=CA1310523318TTN,TTN-AS1c.87044G= (p.Arg29015=)
c.68129G= (p.Arg22710=)
c.67928G= (p.Arg22643=)
c.67553G= (p.Arg22518=)
c.94748G= (p.Arg31583=)
c.89825G= (p.Arg29942=)
n.446+23044C=
n.2043+4319C=
c.93845G= (p.Arg31282=)
c.67739G= (p.Arg22580=)
c.67598G= (p.Arg22533=)
c.93641G= (p.Arg31214=)
c.89039G= (p.Arg29680=)
c.89036G= (p.Arg29679=)
c.86078G= (p.Arg28693=)
c.67694G= (p.Arg22565=)
c.89189G= (p.Arg29730=)
c.89186G= (p.Arg29729=)
c.88619G= (p.Arg29540=)
c.85961G= (p.Arg28654=)
c.85880G= (p.Arg28627=)
c.67643G= (p.Arg22548=)
c.57497G= (p.Arg19166=)
2g.178546680C>GCA349470701TTN,TTN-AS1c.87044G>C (p.Arg29015Pro)
c.68129G>C (p.Arg22710Pro)
c.67928G>C (p.Arg22643Pro)
c.67553G>C (p.Arg22518Pro)
c.94748G>C (p.Arg31583Pro)
c.89825G>C (p.Arg29942Pro)
n.446+23044C>G
n.2043+4319C>G
c.93845G>C (p.Arg31282Pro)
c.67739G>C (p.Arg22580Pro)
c.67598G>C (p.Arg22533Pro)
c.93641G>C (p.Arg31214Pro)
c.89039G>C (p.Arg29680Pro)
c.89036G>C (p.Arg29679Pro)
c.86078G>C (p.Arg28693Pro)
c.67694G>C (p.Arg22565Pro)
c.89189G>C (p.Arg29730Pro)
c.89186G>C (p.Arg29729Pro)
c.88619G>C (p.Arg29540Pro)
c.85961G>C (p.Arg28654Pro)
c.85880G>C (p.Arg28627Pro)
c.67643G>C (p.Arg22548Pro)
c.57497G>C (p.Arg19166Pro)
 COSMIC COSMIC COSMIC COSMIC
2g.178546680C>TCA178423TTN,TTN-AS1c.87044G>A (p.Arg29015His)
c.68129G>A (p.Arg22710His)
c.67928G>A (p.Arg22643His)
c.67553G>A (p.Arg22518His)
c.94748G>A (p.Arg31583His)
c.89825G>A (p.Arg29942His)
n.446+23044C>T
n.2043+4319C>T
c.93845G>A (p.Arg31282His)
c.67739G>A (p.Arg22580His)
c.67598G>A (p.Arg22533His)
c.93641G>A (p.Arg31214His)
c.89039G>A (p.Arg29680His)
c.89036G>A (p.Arg29679His)
c.86078G>A (p.Arg28693His)
c.67694G>A (p.Arg22565His)
c.89189G>A (p.Arg29730His)
c.89186G>A (p.Arg29729His)
c.88619G>A (p.Arg29540His)
c.85961G>A (p.Arg28654His)
c.85880G>A (p.Arg28627His)
c.67643G>A (p.Arg22548His)
c.57497G>A (p.Arg19166His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546680_178546681delCA1139657417TTN,TTN-AS1c.87043_87044del (p.Arg29015CysfsTer11)
c.68128_68129del (p.Arg22710CysfsTer11)
c.67927_67928del (p.Arg22643CysfsTer11)
c.67552_67553del (p.Arg22518CysfsTer11)
c.94747_94748del (p.Arg31583CysfsTer11)
c.89824_89825del (p.Arg29942CysfsTer11)
n.446+23044_446+23045del
n.2043+4319_2043+4320del
c.93844_93845del (p.Arg31282CysfsTer11)
c.67738_67739del (p.Arg22580CysfsTer11)
c.67597_67598del (p.Arg22533CysfsTer11)
c.93640_93641del (p.Arg31214CysfsTer11)
c.89038_89039del (p.Arg29680CysfsTer11)
c.89035_89036del (p.Arg29679CysfsTer11)
c.86077_86078del (p.Arg28693CysfsTer11)
c.67693_67694del (p.Arg22565CysfsTer11)
c.89188_89189del (p.Arg29730CysfsTer11)
c.89185_89186del (p.Arg29729CysfsTer11)
c.88618_88619del (p.Arg29540CysfsTer11)
c.85960_85961del (p.Arg28654CysfsTer11)
c.85879_85880del (p.Arg28627CysfsTer11)
c.67642_67643del (p.Arg22548CysfsTer11)
c.57496_57497del (p.Arg19166CysfsTer11)
 ClinVar dbSNP
2g.178546681G>ACA60972522TTN,TTN-AS1c.87043C>T (p.Arg29015Cys)
c.68128C>T (p.Arg22710Cys)
c.67927C>T (p.Arg22643Cys)
c.67552C>T (p.Arg22518Cys)
c.94747C>T (p.Arg31583Cys)
c.89824C>T (p.Arg29942Cys)
n.446+23045G>A
n.2043+4320G>A
c.93844C>T (p.Arg31282Cys)
c.67738C>T (p.Arg22580Cys)
c.67597C>T (p.Arg22533Cys)
c.93640C>T (p.Arg31214Cys)
c.89038C>T (p.Arg29680Cys)
c.89035C>T (p.Arg29679Cys)
c.86077C>T (p.Arg28693Cys)
c.67693C>T (p.Arg22565Cys)
c.89188C>T (p.Arg29730Cys)
c.89185C>T (p.Arg29729Cys)
c.88618C>T (p.Arg29540Cys)
c.85960C>T (p.Arg28654Cys)
c.85879C>T (p.Arg28627Cys)
c.67642C>T (p.Arg22548Cys)
c.57496C>T (p.Arg19166Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546681G>CCA349470704TTN,TTN-AS1c.87043C>G (p.Arg29015Gly)
c.68128C>G (p.Arg22710Gly)
c.67927C>G (p.Arg22643Gly)
c.67552C>G (p.Arg22518Gly)
c.94747C>G (p.Arg31583Gly)
c.89824C>G (p.Arg29942Gly)
n.446+23045G>C
n.2043+4320G>C
c.93844C>G (p.Arg31282Gly)
c.67738C>G (p.Arg22580Gly)
c.67597C>G (p.Arg22533Gly)
c.93640C>G (p.Arg31214Gly)
c.89038C>G (p.Arg29680Gly)
c.89035C>G (p.Arg29679Gly)
c.86077C>G (p.Arg28693Gly)
c.67693C>G (p.Arg22565Gly)
c.89188C>G (p.Arg29730Gly)
c.89185C>G (p.Arg29729Gly)
c.88618C>G (p.Arg29540Gly)
c.85960C>G (p.Arg28654Gly)
c.85879C>G (p.Arg28627Gly)
c.67642C>G (p.Arg22548Gly)
c.57496C>G (p.Arg19166Gly)
2g.178546681G=CA1310523321TTN,TTN-AS1c.87043C= (p.Arg29015=)
c.68128C= (p.Arg22710=)
c.67927C= (p.Arg22643=)
c.67552C= (p.Arg22518=)
c.94747C= (p.Arg31583=)
c.89824C= (p.Arg29942=)
n.446+23045G=
n.2043+4320G=
c.93844C= (p.Arg31282=)
c.67738C= (p.Arg22580=)
c.67597C= (p.Arg22533=)
c.93640C= (p.Arg31214=)
c.89038C= (p.Arg29680=)
c.89035C= (p.Arg29679=)
c.86077C= (p.Arg28693=)
c.67693C= (p.Arg22565=)
c.89188C= (p.Arg29730=)
c.89185C= (p.Arg29729=)
c.88618C= (p.Arg29540=)
c.85960C= (p.Arg28654=)
c.85879C= (p.Arg28627=)
c.67642C= (p.Arg22548=)
c.57496C= (p.Arg19166=)
2g.178546681G>TCA349470703TTN,TTN-AS1c.87043C>A (p.Arg29015Ser)
c.68128C>A (p.Arg22710Ser)
c.67927C>A (p.Arg22643Ser)
c.67552C>A (p.Arg22518Ser)
c.94747C>A (p.Arg31583Ser)
c.89824C>A (p.Arg29942Ser)
n.446+23045G>T
n.2043+4320G>T
c.93844C>A (p.Arg31282Ser)
c.67738C>A (p.Arg22580Ser)
c.67597C>A (p.Arg22533Ser)
c.93640C>A (p.Arg31214Ser)
c.89038C>A (p.Arg29680Ser)
c.89035C>A (p.Arg29679Ser)
c.86077C>A (p.Arg28693Ser)
c.67693C>A (p.Arg22565Ser)
c.89188C>A (p.Arg29730Ser)
c.89185C>A (p.Arg29729Ser)
c.88618C>A (p.Arg29540Ser)
c.85960C>A (p.Arg28654Ser)
c.85879C>A (p.Arg28627Ser)
c.67642C>A (p.Arg22548Ser)
c.57496C>A (p.Arg19166Ser)
2g.178546682G>ACA430242410TTN,TTN-AS1c.87042C>T (p.Phe29014=)
c.68127C>T (p.Phe22709=)
c.67926C>T (p.Phe22642=)
c.67551C>T (p.Phe22517=)
c.94746C>T (p.Phe31582=)
c.89823C>T (p.Phe29941=)
n.446+23046G>A
n.2043+4321G>A
c.93843C>T (p.Phe31281=)
c.67737C>T (p.Phe22579=)
c.67596C>T (p.Phe22532=)
c.93639C>T (p.Phe31213=)
c.89037C>T (p.Phe29679=)
c.89034C>T (p.Phe29678=)
c.86076C>T (p.Phe28692=)
c.67692C>T (p.Phe22564=)
c.89187C>T (p.Phe29729=)
c.89184C>T (p.Phe29728=)
c.88617C>T (p.Phe29539=)
c.85959C>T (p.Phe28653=)
c.85878C>T (p.Phe28626=)
c.67641C>T (p.Phe22547=)
c.57495C>T (p.Phe19165=)
2g.178546682G>CCA349470710TTN,TTN-AS1c.87042C>G (p.Phe29014Leu)
c.68127C>G (p.Phe22709Leu)
c.67926C>G (p.Phe22642Leu)
c.67551C>G (p.Phe22517Leu)
c.94746C>G (p.Phe31582Leu)
c.89823C>G (p.Phe29941Leu)
n.446+23046G>C
n.2043+4321G>C
c.93843C>G (p.Phe31281Leu)
c.67737C>G (p.Phe22579Leu)
c.67596C>G (p.Phe22532Leu)
c.93639C>G (p.Phe31213Leu)
c.89037C>G (p.Phe29679Leu)
c.89034C>G (p.Phe29678Leu)
c.86076C>G (p.Phe28692Leu)
c.67692C>G (p.Phe22564Leu)
c.89187C>G (p.Phe29729Leu)
c.89184C>G (p.Phe29728Leu)
c.88617C>G (p.Phe29539Leu)
c.85959C>G (p.Phe28653Leu)
c.85878C>G (p.Phe28626Leu)
c.67641C>G (p.Phe22547Leu)
c.57495C>G (p.Phe19165Leu)
2g.178546682G>TCA349470714TTN,TTN-AS1c.87042C>A (p.Phe29014Leu)
c.68127C>A (p.Phe22709Leu)
c.67926C>A (p.Phe22642Leu)
c.67551C>A (p.Phe22517Leu)
c.94746C>A (p.Phe31582Leu)
c.89823C>A (p.Phe29941Leu)
n.446+23046G>T
n.2043+4321G>T
c.93843C>A (p.Phe31281Leu)
c.67737C>A (p.Phe22579Leu)
c.67596C>A (p.Phe22532Leu)
c.93639C>A (p.Phe31213Leu)
c.89037C>A (p.Phe29679Leu)
c.89034C>A (p.Phe29678Leu)
c.86076C>A (p.Phe28692Leu)
c.67692C>A (p.Phe22564Leu)
c.89187C>A (p.Phe29729Leu)
c.89184C>A (p.Phe29728Leu)
c.88617C>A (p.Phe29539Leu)
c.85959C>A (p.Phe28653Leu)
c.85878C>A (p.Phe28626Leu)
c.67641C>A (p.Phe22547Leu)
c.57495C>A (p.Phe19165Leu)
2g.178546683A>CCA349470716TTN,TTN-AS1c.87041T>G (p.Phe29014Cys)
c.68126T>G (p.Phe22709Cys)
c.67925T>G (p.Phe22642Cys)
c.67550T>G (p.Phe22517Cys)
c.94745T>G (p.Phe31582Cys)
c.89822T>G (p.Phe29941Cys)
n.446+23047A>C
n.2043+4322A>C
c.93842T>G (p.Phe31281Cys)
c.67736T>G (p.Phe22579Cys)
c.67595T>G (p.Phe22532Cys)
c.93638T>G (p.Phe31213Cys)
c.89036T>G (p.Phe29679Cys)
c.89033T>G (p.Phe29678Cys)
c.86075T>G (p.Phe28692Cys)
c.67691T>G (p.Phe22564Cys)
c.89186T>G (p.Phe29729Cys)
c.89183T>G (p.Phe29728Cys)
c.88616T>G (p.Phe29539Cys)
c.85958T>G (p.Phe28653Cys)
c.85877T>G (p.Phe28626Cys)
c.67640T>G (p.Phe22547Cys)
c.57494T>G (p.Phe19165Cys)
2g.178546683A>GCA349470717TTN,TTN-AS1c.87041T>C (p.Phe29014Ser)
c.68126T>C (p.Phe22709Ser)
c.67925T>C (p.Phe22642Ser)
c.67550T>C (p.Phe22517Ser)
c.94745T>C (p.Phe31582Ser)
c.89822T>C (p.Phe29941Ser)
n.446+23047A>G
n.2043+4322A>G
c.93842T>C (p.Phe31281Ser)
c.67736T>C (p.Phe22579Ser)
c.67595T>C (p.Phe22532Ser)
c.93638T>C (p.Phe31213Ser)
c.89036T>C (p.Phe29679Ser)
c.89033T>C (p.Phe29678Ser)
c.86075T>C (p.Phe28692Ser)
c.67691T>C (p.Phe22564Ser)
c.89186T>C (p.Phe29729Ser)
c.89183T>C (p.Phe29728Ser)
c.88616T>C (p.Phe29539Ser)
c.85958T>C (p.Phe28653Ser)
c.85877T>C (p.Phe28626Ser)
c.67640T>C (p.Phe22547Ser)
c.57494T>C (p.Phe19165Ser)
2g.178546683A>TCA349470718TTN,TTN-AS1c.87041T>A (p.Phe29014Tyr)
c.68126T>A (p.Phe22709Tyr)
c.67925T>A (p.Phe22642Tyr)
c.67550T>A (p.Phe22517Tyr)
c.94745T>A (p.Phe31582Tyr)
c.89822T>A (p.Phe29941Tyr)
n.446+23047A>T
n.2043+4322A>T
c.93842T>A (p.Phe31281Tyr)
c.67736T>A (p.Phe22579Tyr)
c.67595T>A (p.Phe22532Tyr)
c.93638T>A (p.Phe31213Tyr)
c.89036T>A (p.Phe29679Tyr)
c.89033T>A (p.Phe29678Tyr)
c.86075T>A (p.Phe28692Tyr)
c.67691T>A (p.Phe22564Tyr)
c.89186T>A (p.Phe29729Tyr)
c.89183T>A (p.Phe29728Tyr)
c.88616T>A (p.Phe29539Tyr)
c.85958T>A (p.Phe28653Tyr)
c.85877T>A (p.Phe28626Tyr)
c.67640T>A (p.Phe22547Tyr)
c.57494T>A (p.Phe19165Tyr)
2g.178546684A=CA1310523322TTN,TTN-AS1c.87040T= (p.Phe29014=)
c.68125T= (p.Phe22709=)
c.67924T= (p.Phe22642=)
c.67549T= (p.Phe22517=)
c.94744T= (p.Phe31582=)
c.89821T= (p.Phe29941=)
n.446+23048A=
n.2043+4323A=
c.93841T= (p.Phe31281=)
c.67735T= (p.Phe22579=)
c.67594T= (p.Phe22532=)
c.93637T= (p.Phe31213=)
c.89035T= (p.Phe29679=)
c.89032T= (p.Phe29678=)
c.86074T= (p.Phe28692=)
c.67690T= (p.Phe22564=)
c.89185T= (p.Phe29729=)
c.89182T= (p.Phe29728=)
c.88615T= (p.Phe29539=)
c.85957T= (p.Phe28653=)
c.85876T= (p.Phe28626=)
c.67639T= (p.Phe22547=)
c.57493T= (p.Phe19165=)
2g.178546684A>CCA349470719TTN,TTN-AS1c.87040T>G (p.Phe29014Val)
c.68125T>G (p.Phe22709Val)
c.67924T>G (p.Phe22642Val)
c.67549T>G (p.Phe22517Val)
c.94744T>G (p.Phe31582Val)
c.89821T>G (p.Phe29941Val)
n.446+23048A>C
n.2043+4323A>C
c.93841T>G (p.Phe31281Val)
c.67735T>G (p.Phe22579Val)
c.67594T>G (p.Phe22532Val)
c.93637T>G (p.Phe31213Val)
c.89035T>G (p.Phe29679Val)
c.89032T>G (p.Phe29678Val)
c.86074T>G (p.Phe28692Val)
c.67690T>G (p.Phe22564Val)
c.89185T>G (p.Phe29729Val)
c.89182T>G (p.Phe29728Val)
c.88615T>G (p.Phe29539Val)
c.85957T>G (p.Phe28653Val)
c.85876T>G (p.Phe28626Val)
c.67639T>G (p.Phe22547Val)
c.57493T>G (p.Phe19165Val)
 dbSNP gnomAD v4
2g.178546684A>GCA349470720TTN,TTN-AS1c.87040T>C (p.Phe29014Leu)
c.68125T>C (p.Phe22709Leu)
c.67924T>C (p.Phe22642Leu)
c.67549T>C (p.Phe22517Leu)
c.94744T>C (p.Phe31582Leu)
c.89821T>C (p.Phe29941Leu)
n.446+23048A>G
n.2043+4323A>G
c.93841T>C (p.Phe31281Leu)
c.67735T>C (p.Phe22579Leu)
c.67594T>C (p.Phe22532Leu)
c.93637T>C (p.Phe31213Leu)
c.89035T>C (p.Phe29679Leu)
c.89032T>C (p.Phe29678Leu)
c.86074T>C (p.Phe28692Leu)
c.67690T>C (p.Phe22564Leu)
c.89185T>C (p.Phe29729Leu)
c.89182T>C (p.Phe29728Leu)
c.88615T>C (p.Phe29539Leu)
c.85957T>C (p.Phe28653Leu)
c.85876T>C (p.Phe28626Leu)
c.67639T>C (p.Phe22547Leu)
c.57493T>C (p.Phe19165Leu)
 gnomAD v4
2g.178546684A>TCA349470722TTN,TTN-AS1c.87040T>A (p.Phe29014Ile)
c.68125T>A (p.Phe22709Ile)
c.67924T>A (p.Phe22642Ile)
c.67549T>A (p.Phe22517Ile)
c.94744T>A (p.Phe31582Ile)
c.89821T>A (p.Phe29941Ile)
n.446+23048A>T
n.2043+4323A>T
c.93841T>A (p.Phe31281Ile)
c.67735T>A (p.Phe22579Ile)
c.67594T>A (p.Phe22532Ile)
c.93637T>A (p.Phe31213Ile)
c.89035T>A (p.Phe29679Ile)
c.89032T>A (p.Phe29678Ile)
c.86074T>A (p.Phe28692Ile)
c.67690T>A (p.Phe22564Ile)
c.89185T>A (p.Phe29729Ile)
c.89182T>A (p.Phe29728Ile)
c.88615T>A (p.Phe29539Ile)
c.85957T>A (p.Phe28653Ile)
c.85876T>A (p.Phe28626Ile)
c.67639T>A (p.Phe22547Ile)
c.57493T>A (p.Phe19165Ile)
2g.178546685C>ACA349470732TTN,TTN-AS1c.87039G>T (p.Glu29013Asp)
c.68124G>T (p.Glu22708Asp)
c.67923G>T (p.Glu22641Asp)
c.67548G>T (p.Glu22516Asp)
c.94743G>T (p.Glu31581Asp)
c.89820G>T (p.Glu29940Asp)
n.446+23049C>A
n.2043+4324C>A
c.93840G>T (p.Glu31280Asp)
c.67734G>T (p.Glu22578Asp)
c.67593G>T (p.Glu22531Asp)
c.93636G>T (p.Glu31212Asp)
c.89034G>T (p.Glu29678Asp)
c.89031G>T (p.Glu29677Asp)
c.86073G>T (p.Glu28691Asp)
c.67689G>T (p.Glu22563Asp)
c.89184G>T (p.Glu29728Asp)
c.89181G>T (p.Glu29727Asp)
c.88614G>T (p.Glu29538Asp)
c.85956G>T (p.Glu28652Asp)
c.85875G>T (p.Glu28625Asp)
c.67638G>T (p.Glu22546Asp)
c.57492G>T (p.Glu19164Asp)
2g.178546685C>GCA349470736TTN,TTN-AS1c.87039G>C (p.Glu29013Asp)
c.68124G>C (p.Glu22708Asp)
c.67923G>C (p.Glu22641Asp)
c.67548G>C (p.Glu22516Asp)
c.94743G>C (p.Glu31581Asp)
c.89820G>C (p.Glu29940Asp)
n.446+23049C>G
n.2043+4324C>G
c.93840G>C (p.Glu31280Asp)
c.67734G>C (p.Glu22578Asp)
c.67593G>C (p.Glu22531Asp)
c.93636G>C (p.Glu31212Asp)
c.89034G>C (p.Glu29678Asp)
c.89031G>C (p.Glu29677Asp)
c.86073G>C (p.Glu28691Asp)
c.67689G>C (p.Glu22563Asp)
c.89184G>C (p.Glu29728Asp)
c.89181G>C (p.Glu29727Asp)
c.88614G>C (p.Glu29538Asp)
c.85956G>C (p.Glu28652Asp)
c.85875G>C (p.Glu28625Asp)
c.67638G>C (p.Glu22546Asp)
c.57492G>C (p.Glu19164Asp)
2g.178546685C>TCA430242411TTN,TTN-AS1c.87039G>A (p.Glu29013=)
c.68124G>A (p.Glu22708=)
c.67923G>A (p.Glu22641=)
c.67548G>A (p.Glu22516=)
c.94743G>A (p.Glu31581=)
c.89820G>A (p.Glu29940=)
n.446+23049C>T
n.2043+4324C>T
c.93840G>A (p.Glu31280=)
c.67734G>A (p.Glu22578=)
c.67593G>A (p.Glu22531=)
c.93636G>A (p.Glu31212=)
c.89034G>A (p.Glu29678=)
c.89031G>A (p.Glu29677=)
c.86073G>A (p.Glu28691=)
c.67689G>A (p.Glu22563=)
c.89184G>A (p.Glu29728=)
c.89181G>A (p.Glu29727=)
c.88614G>A (p.Glu29538=)
c.85956G>A (p.Glu28652=)
c.85875G>A (p.Glu28625=)
c.67638G>A (p.Glu22546=)
c.57492G>A (p.Glu19164=)
2g.178546686T>ACA349470737TTN,TTN-AS1c.87038A>T (p.Glu29013Val)
c.68123A>T (p.Glu22708Val)
c.67922A>T (p.Glu22641Val)
c.67547A>T (p.Glu22516Val)
c.94742A>T (p.Glu31581Val)
c.89819A>T (p.Glu29940Val)
n.446+23050T>A
n.2043+4325T>A
c.93839A>T (p.Glu31280Val)
c.67733A>T (p.Glu22578Val)
c.67592A>T (p.Glu22531Val)
c.93635A>T (p.Glu31212Val)
c.89033A>T (p.Glu29678Val)
c.89030A>T (p.Glu29677Val)
c.86072A>T (p.Glu28691Val)
c.67688A>T (p.Glu22563Val)
c.89183A>T (p.Glu29728Val)
c.89180A>T (p.Glu29727Val)
c.88613A>T (p.Glu29538Val)
c.85955A>T (p.Glu28652Val)
c.85874A>T (p.Glu28625Val)
c.67637A>T (p.Glu22546Val)
c.57491A>T (p.Glu19164Val)
2g.178546686T>CCA349470738TTN,TTN-AS1c.87038A>G (p.Glu29013Gly)
c.68123A>G (p.Glu22708Gly)
c.67922A>G (p.Glu22641Gly)
c.67547A>G (p.Glu22516Gly)
c.94742A>G (p.Glu31581Gly)
c.89819A>G (p.Glu29940Gly)
n.446+23050T>C
n.2043+4325T>C
c.93839A>G (p.Glu31280Gly)
c.67733A>G (p.Glu22578Gly)
c.67592A>G (p.Glu22531Gly)
c.93635A>G (p.Glu31212Gly)
c.89033A>G (p.Glu29678Gly)
c.89030A>G (p.Glu29677Gly)
c.86072A>G (p.Glu28691Gly)
c.67688A>G (p.Glu22563Gly)
c.89183A>G (p.Glu29728Gly)
c.89180A>G (p.Glu29727Gly)
c.88613A>G (p.Glu29538Gly)
c.85955A>G (p.Glu28652Gly)
c.85874A>G (p.Glu28625Gly)
c.67637A>G (p.Glu22546Gly)
c.57491A>G (p.Glu19164Gly)
2g.178546686T>GCA349470739TTN,TTN-AS1c.87038A>C (p.Glu29013Ala)
c.68123A>C (p.Glu22708Ala)
c.67922A>C (p.Glu22641Ala)
c.67547A>C (p.Glu22516Ala)
c.94742A>C (p.Glu31581Ala)
c.89819A>C (p.Glu29940Ala)
n.446+23050T>G
n.2043+4325T>G
c.93839A>C (p.Glu31280Ala)
c.67733A>C (p.Glu22578Ala)
c.67592A>C (p.Glu22531Ala)
c.93635A>C (p.Glu31212Ala)
c.89033A>C (p.Glu29678Ala)
c.89030A>C (p.Glu29677Ala)
c.86072A>C (p.Glu28691Ala)
c.67688A>C (p.Glu22563Ala)
c.89183A>C (p.Glu29728Ala)
c.89180A>C (p.Glu29727Ala)
c.88613A>C (p.Glu29538Ala)
c.85955A>C (p.Glu28652Ala)
c.85874A>C (p.Glu28625Ala)
c.67637A>C (p.Glu22546Ala)
c.57491A>C (p.Glu19164Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178546686T=CA1310523325TTN,TTN-AS1c.87038A= (p.Glu29013=)
c.68123A= (p.Glu22708=)
c.67922A= (p.Glu22641=)
c.67547A= (p.Glu22516=)
c.94742A= (p.Glu31581=)
c.89819A= (p.Glu29940=)
n.446+23050T=
n.2043+4325T=
c.93839A= (p.Glu31280=)
c.67733A= (p.Glu22578=)
c.67592A= (p.Glu22531=)
c.93635A= (p.Glu31212=)
c.89033A= (p.Glu29678=)
c.89030A= (p.Glu29677=)
c.86072A= (p.Glu28691=)
c.67688A= (p.Glu22563=)
c.89183A= (p.Glu29728=)
c.89180A= (p.Glu29727=)
c.88613A= (p.Glu29538=)
c.85955A= (p.Glu28652=)
c.85874A= (p.Glu28625=)
c.67637A= (p.Glu22546=)
c.57491A= (p.Glu19164=)
2g.178546687C>ACA349470783TTN,TTN-AS1c.87037G>T (p.Glu29013Ter)
c.68122G>T (p.Glu22708Ter)
c.67921G>T (p.Glu22641Ter)
c.67546G>T (p.Glu22516Ter)
c.94741G>T (p.Glu31581Ter)
c.89818G>T (p.Glu29940Ter)
n.446+23051C>A
n.2043+4326C>A
c.93838G>T (p.Glu31280Ter)
c.67732G>T (p.Glu22578Ter)
c.67591G>T (p.Glu22531Ter)
c.93634G>T (p.Glu31212Ter)
c.89032G>T (p.Glu29678Ter)
c.89029G>T (p.Glu29677Ter)
c.86071G>T (p.Glu28691Ter)
c.67687G>T (p.Glu22563Ter)
c.89182G>T (p.Glu29728Ter)
c.89179G>T (p.Glu29727Ter)
c.88612G>T (p.Glu29538Ter)
c.85954G>T (p.Glu28652Ter)
c.85873G>T (p.Glu28625Ter)
c.67636G>T (p.Glu22546Ter)
c.57490G>T (p.Glu19164Ter)
2g.178546687C=CA1310523327TTN,TTN-AS1c.87037G= (p.Glu29013=)
c.68122G= (p.Glu22708=)
c.67921G= (p.Glu22641=)
c.67546G= (p.Glu22516=)
c.94741G= (p.Glu31581=)
c.89818G= (p.Glu29940=)
n.446+23051C=
n.2043+4326C=
c.93838G= (p.Glu31280=)
c.67732G= (p.Glu22578=)
c.67591G= (p.Glu22531=)
c.93634G= (p.Glu31212=)
c.89032G= (p.Glu29678=)
c.89029G= (p.Glu29677=)
c.86071G= (p.Glu28691=)
c.67687G= (p.Glu22563=)
c.89182G= (p.Glu29728=)
c.89179G= (p.Glu29727=)
c.88612G= (p.Glu29538=)
c.85954G= (p.Glu28652=)
c.85873G= (p.Glu28625=)
c.67636G= (p.Glu22546=)
c.57490G= (p.Glu19164=)
2g.178546687C>GCA349470740TTN,TTN-AS1c.87037G>C (p.Glu29013Gln)
c.68122G>C (p.Glu22708Gln)
c.67921G>C (p.Glu22641Gln)
c.67546G>C (p.Glu22516Gln)
c.94741G>C (p.Glu31581Gln)
c.89818G>C (p.Glu29940Gln)
n.446+23051C>G
n.2043+4326C>G
c.93838G>C (p.Glu31280Gln)
c.67732G>C (p.Glu22578Gln)
c.67591G>C (p.Glu22531Gln)
c.93634G>C (p.Glu31212Gln)
c.89032G>C (p.Glu29678Gln)
c.89029G>C (p.Glu29677Gln)
c.86071G>C (p.Glu28691Gln)
c.67687G>C (p.Glu22563Gln)
c.89182G>C (p.Glu29728Gln)
c.89179G>C (p.Glu29727Gln)
c.88612G>C (p.Glu29538Gln)
c.85954G>C (p.Glu28652Gln)
c.85873G>C (p.Glu28625Gln)
c.67636G>C (p.Glu22546Gln)
c.57490G>C (p.Glu19164Gln)
 gnomAD v4
2g.178546687C>TCA349470742TTN,TTN-AS1c.87037G>A (p.Glu29013Lys)
c.68122G>A (p.Glu22708Lys)
c.67921G>A (p.Glu22641Lys)
c.67546G>A (p.Glu22516Lys)
c.94741G>A (p.Glu31581Lys)
c.89818G>A (p.Glu29940Lys)
n.446+23051C>T
n.2043+4326C>T
c.93838G>A (p.Glu31280Lys)
c.67732G>A (p.Glu22578Lys)
c.67591G>A (p.Glu22531Lys)
c.93634G>A (p.Glu31212Lys)
c.89032G>A (p.Glu29678Lys)
c.89029G>A (p.Glu29677Lys)
c.86071G>A (p.Glu28691Lys)
c.67687G>A (p.Glu22563Lys)
c.89182G>A (p.Glu29728Lys)
c.89179G>A (p.Glu29727Lys)
c.88612G>A (p.Glu29538Lys)
c.85954G>A (p.Glu28652Lys)
c.85873G>A (p.Glu28625Lys)
c.67636G>A (p.Glu22546Lys)
c.57490G>A (p.Glu19164Lys)
 dbSNP gnomAD v4
2g.178546688A=CA1310523329TTN,TTN-AS1c.87036T= (p.Tyr29012=)
c.68121T= (p.Tyr22707=)
c.67920T= (p.Tyr22640=)
c.67545T= (p.Tyr22515=)
c.94740T= (p.Tyr31580=)
c.89817T= (p.Tyr29939=)
n.446+23052A=
n.2043+4327A=
c.93837T= (p.Tyr31279=)
c.67731T= (p.Tyr22577=)
c.67590T= (p.Tyr22530=)
c.93633T= (p.Tyr31211=)
c.89031T= (p.Tyr29677=)
c.89028T= (p.Tyr29676=)
c.86070T= (p.Tyr28690=)
c.67686T= (p.Tyr22562=)
c.89181T= (p.Tyr29727=)
c.89178T= (p.Tyr29726=)
c.88611T= (p.Tyr29537=)
c.85953T= (p.Tyr28651=)
c.85872T= (p.Tyr28624=)
c.67635T= (p.Tyr22545=)
c.57489T= (p.Tyr19163=)
2g.178546688A>CCA349470790TTN,TTN-AS1c.87036T>G (p.Tyr29012Ter)
c.68121T>G (p.Tyr22707Ter)
c.67920T>G (p.Tyr22640Ter)
c.67545T>G (p.Tyr22515Ter)
c.94740T>G (p.Tyr31580Ter)
c.89817T>G (p.Tyr29939Ter)
n.446+23052A>C
n.2043+4327A>C
c.93837T>G (p.Tyr31279Ter)
c.67731T>G (p.Tyr22577Ter)
c.67590T>G (p.Tyr22530Ter)
c.93633T>G (p.Tyr31211Ter)
c.89031T>G (p.Tyr29677Ter)
c.89028T>G (p.Tyr29676Ter)
c.86070T>G (p.Tyr28690Ter)
c.67686T>G (p.Tyr22562Ter)
c.89181T>G (p.Tyr29727Ter)
c.89178T>G (p.Tyr29726Ter)
c.88611T>G (p.Tyr29537Ter)
c.85953T>G (p.Tyr28651Ter)
c.85872T>G (p.Tyr28624Ter)
c.67635T>G (p.Tyr22545Ter)
c.57489T>G (p.Tyr19163Ter)
 gnomAD v4
2g.178546688A>GCA430242412TTN,TTN-AS1c.87036T>C (p.Tyr29012=)
c.68121T>C (p.Tyr22707=)
c.67920T>C (p.Tyr22640=)
c.67545T>C (p.Tyr22515=)
c.94740T>C (p.Tyr31580=)
c.89817T>C (p.Tyr29939=)
n.446+23052A>G
n.2043+4327A>G
c.93837T>C (p.Tyr31279=)
c.67731T>C (p.Tyr22577=)
c.67590T>C (p.Tyr22530=)
c.93633T>C (p.Tyr31211=)
c.89031T>C (p.Tyr29677=)
c.89028T>C (p.Tyr29676=)
c.86070T>C (p.Tyr28690=)
c.67686T>C (p.Tyr22562=)
c.89181T>C (p.Tyr29727=)
c.89178T>C (p.Tyr29726=)
c.88611T>C (p.Tyr29537=)
c.85953T>C (p.Tyr28651=)
c.85872T>C (p.Tyr28624=)
c.67635T>C (p.Tyr22545=)
c.57489T>C (p.Tyr19163=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546688A>TCA349470798TTN,TTN-AS1c.87036T>A (p.Tyr29012Ter)
c.68121T>A (p.Tyr22707Ter)
c.67920T>A (p.Tyr22640Ter)
c.67545T>A (p.Tyr22515Ter)
c.94740T>A (p.Tyr31580Ter)
c.89817T>A (p.Tyr29939Ter)
n.446+23052A>T
n.2043+4327A>T
c.93837T>A (p.Tyr31279Ter)
c.67731T>A (p.Tyr22577Ter)
c.67590T>A (p.Tyr22530Ter)
c.93633T>A (p.Tyr31211Ter)
c.89031T>A (p.Tyr29677Ter)
c.89028T>A (p.Tyr29676Ter)
c.86070T>A (p.Tyr28690Ter)
c.67686T>A (p.Tyr22562Ter)
c.89181T>A (p.Tyr29727Ter)
c.89178T>A (p.Tyr29726Ter)
c.88611T>A (p.Tyr29537Ter)
c.85953T>A (p.Tyr28651Ter)
c.85872T>A (p.Tyr28624Ter)
c.67635T>A (p.Tyr22545Ter)
c.57489T>A (p.Tyr19163Ter)
2g.178546689T>ACA349470807TTN,TTN-AS1c.87035A>T (p.Tyr29012Phe)
c.68120A>T (p.Tyr22707Phe)
c.67919A>T (p.Tyr22640Phe)
c.67544A>T (p.Tyr22515Phe)
c.94739A>T (p.Tyr31580Phe)
c.89816A>T (p.Tyr29939Phe)
n.446+23053T>A
n.2043+4328T>A
c.93836A>T (p.Tyr31279Phe)
c.67730A>T (p.Tyr22577Phe)
c.67589A>T (p.Tyr22530Phe)
c.93632A>T (p.Tyr31211Phe)
c.89030A>T (p.Tyr29677Phe)
c.89027A>T (p.Tyr29676Phe)
c.86069A>T (p.Tyr28690Phe)
c.67685A>T (p.Tyr22562Phe)
c.89180A>T (p.Tyr29727Phe)
c.89177A>T (p.Tyr29726Phe)
c.88610A>T (p.Tyr29537Phe)
c.85952A>T (p.Tyr28651Phe)
c.85871A>T (p.Tyr28624Phe)
c.67634A>T (p.Tyr22545Phe)
c.57488A>T (p.Tyr19163Phe)
2g.178546689T>CCA349470809TTN,TTN-AS1c.87035A>G (p.Tyr29012Cys)
c.68120A>G (p.Tyr22707Cys)
c.67919A>G (p.Tyr22640Cys)
c.67544A>G (p.Tyr22515Cys)
c.94739A>G (p.Tyr31580Cys)
c.89816A>G (p.Tyr29939Cys)
n.446+23053T>C
n.2043+4328T>C
c.93836A>G (p.Tyr31279Cys)
c.67730A>G (p.Tyr22577Cys)
c.67589A>G (p.Tyr22530Cys)
c.93632A>G (p.Tyr31211Cys)
c.89030A>G (p.Tyr29677Cys)
c.89027A>G (p.Tyr29676Cys)
c.86069A>G (p.Tyr28690Cys)
c.67685A>G (p.Tyr22562Cys)
c.89180A>G (p.Tyr29727Cys)
c.89177A>G (p.Tyr29726Cys)
c.88610A>G (p.Tyr29537Cys)
c.85952A>G (p.Tyr28651Cys)
c.85871A>G (p.Tyr28624Cys)
c.67634A>G (p.Tyr22545Cys)
c.57488A>G (p.Tyr19163Cys)
2g.178546689T>GCA349470812TTN,TTN-AS1c.87035A>C (p.Tyr29012Ser)
c.68120A>C (p.Tyr22707Ser)
c.67919A>C (p.Tyr22640Ser)
c.67544A>C (p.Tyr22515Ser)
c.94739A>C (p.Tyr31580Ser)
c.89816A>C (p.Tyr29939Ser)
n.446+23053T>G
n.2043+4328T>G
c.93836A>C (p.Tyr31279Ser)
c.67730A>C (p.Tyr22577Ser)
c.67589A>C (p.Tyr22530Ser)
c.93632A>C (p.Tyr31211Ser)
c.89030A>C (p.Tyr29677Ser)
c.89027A>C (p.Tyr29676Ser)
c.86069A>C (p.Tyr28690Ser)
c.67685A>C (p.Tyr22562Ser)
c.89180A>C (p.Tyr29727Ser)
c.89177A>C (p.Tyr29726Ser)
c.88610A>C (p.Tyr29537Ser)
c.85952A>C (p.Tyr28651Ser)
c.85871A>C (p.Tyr28624Ser)
c.67634A>C (p.Tyr22545Ser)
c.57488A>C (p.Tyr19163Ser)
2g.178546690A>CCA349470816TTN,TTN-AS1c.87034T>G (p.Tyr29012Asp)
c.68119T>G (p.Tyr22707Asp)
c.67918T>G (p.Tyr22640Asp)
c.67543T>G (p.Tyr22515Asp)
c.94738T>G (p.Tyr31580Asp)
c.89815T>G (p.Tyr29939Asp)
n.446+23054A>C
n.2043+4329A>C
c.93835T>G (p.Tyr31279Asp)
c.67729T>G (p.Tyr22577Asp)
c.67588T>G (p.Tyr22530Asp)
c.93631T>G (p.Tyr31211Asp)
c.89029T>G (p.Tyr29677Asp)
c.89026T>G (p.Tyr29676Asp)
c.86068T>G (p.Tyr28690Asp)
c.67684T>G (p.Tyr22562Asp)
c.89179T>G (p.Tyr29727Asp)
c.89176T>G (p.Tyr29726Asp)
c.88609T>G (p.Tyr29537Asp)
c.85951T>G (p.Tyr28651Asp)
c.85870T>G (p.Tyr28624Asp)
c.67633T>G (p.Tyr22545Asp)
c.57487T>G (p.Tyr19163Asp)
2g.178546690A>GCA349470817TTN,TTN-AS1c.87034T>C (p.Tyr29012His)
c.68119T>C (p.Tyr22707His)
c.67918T>C (p.Tyr22640His)
c.67543T>C (p.Tyr22515His)
c.94738T>C (p.Tyr31580His)
c.89815T>C (p.Tyr29939His)
n.446+23054A>G
n.2043+4329A>G
c.93835T>C (p.Tyr31279His)
c.67729T>C (p.Tyr22577His)
c.67588T>C (p.Tyr22530His)
c.93631T>C (p.Tyr31211His)
c.89029T>C (p.Tyr29677His)
c.89026T>C (p.Tyr29676His)
c.86068T>C (p.Tyr28690His)
c.67684T>C (p.Tyr22562His)
c.89179T>C (p.Tyr29727His)
c.89176T>C (p.Tyr29726His)
c.88609T>C (p.Tyr29537His)
c.85951T>C (p.Tyr28651His)
c.85870T>C (p.Tyr28624His)
c.67633T>C (p.Tyr22545His)
c.57487T>C (p.Tyr19163His)
2g.178546690A>TCA349470826TTN,TTN-AS1c.87034T>A (p.Tyr29012Asn)
c.68119T>A (p.Tyr22707Asn)
c.67918T>A (p.Tyr22640Asn)
c.67543T>A (p.Tyr22515Asn)
c.94738T>A (p.Tyr31580Asn)
c.89815T>A (p.Tyr29939Asn)
n.446+23054A>T
n.2043+4329A>T
c.93835T>A (p.Tyr31279Asn)
c.67729T>A (p.Tyr22577Asn)
c.67588T>A (p.Tyr22530Asn)
c.93631T>A (p.Tyr31211Asn)
c.89029T>A (p.Tyr29677Asn)
c.89026T>A (p.Tyr29676Asn)
c.86068T>A (p.Tyr28690Asn)
c.67684T>A (p.Tyr22562Asn)
c.89179T>A (p.Tyr29727Asn)
c.89176T>A (p.Tyr29726Asn)
c.88609T>A (p.Tyr29537Asn)
c.85951T>A (p.Tyr28651Asn)
c.85870T>A (p.Tyr28624Asn)
c.67633T>A (p.Tyr22545Asn)
c.57487T>A (p.Tyr19163Asn)
2g.178546691A=CA1310523331TTN,TTN-AS1c.87033T= (p.Thr29011=)
c.68118T= (p.Thr22706=)
c.67917T= (p.Thr22639=)
c.67542T= (p.Thr22514=)
c.94737T= (p.Thr31579=)
c.89814T= (p.Thr29938=)
n.446+23055A=
n.2043+4330A=
c.93834T= (p.Thr31278=)
c.67728T= (p.Thr22576=)
c.67587T= (p.Thr22529=)
c.93630T= (p.Thr31210=)
c.89028T= (p.Thr29676=)
c.89025T= (p.Thr29675=)
c.86067T= (p.Thr28689=)
c.67683T= (p.Thr22561=)
c.89178T= (p.Thr29726=)
c.89175T= (p.Thr29725=)
c.88608T= (p.Thr29536=)
c.85950T= (p.Thr28650=)
c.85869T= (p.Thr28623=)
c.67632T= (p.Thr22544=)
c.57486T= (p.Thr19162=)
2g.178546691A>CCA430242413TTN,TTN-AS1c.87033T>G (p.Thr29011=)
c.68118T>G (p.Thr22706=)
c.67917T>G (p.Thr22639=)
c.67542T>G (p.Thr22514=)
c.94737T>G (p.Thr31579=)
c.89814T>G (p.Thr29938=)
n.446+23055A>C
n.2043+4330A>C
c.93834T>G (p.Thr31278=)
c.67728T>G (p.Thr22576=)
c.67587T>G (p.Thr22529=)
c.93630T>G (p.Thr31210=)
c.89028T>G (p.Thr29676=)
c.89025T>G (p.Thr29675=)
c.86067T>G (p.Thr28689=)
c.67683T>G (p.Thr22561=)
c.89178T>G (p.Thr29726=)
c.89175T>G (p.Thr29725=)
c.88608T>G (p.Thr29536=)
c.85950T>G (p.Thr28650=)
c.85869T>G (p.Thr28623=)
c.67632T>G (p.Thr22544=)
c.57486T>G (p.Thr19162=)
 gnomAD v4
2g.178546691A>GCA430242414TTN,TTN-AS1c.87033T>C (p.Thr29011=)
c.68118T>C (p.Thr22706=)
c.67917T>C (p.Thr22639=)
c.67542T>C (p.Thr22514=)
c.94737T>C (p.Thr31579=)
c.89814T>C (p.Thr29938=)
n.446+23055A>G
n.2043+4330A>G
c.93834T>C (p.Thr31278=)
c.67728T>C (p.Thr22576=)
c.67587T>C (p.Thr22529=)
c.93630T>C (p.Thr31210=)
c.89028T>C (p.Thr29676=)
c.89025T>C (p.Thr29675=)
c.86067T>C (p.Thr28689=)
c.67683T>C (p.Thr22561=)
c.89178T>C (p.Thr29726=)
c.89175T>C (p.Thr29725=)
c.88608T>C (p.Thr29536=)
c.85950T>C (p.Thr28650=)
c.85869T>C (p.Thr28623=)
c.67632T>C (p.Thr22544=)
c.57486T>C (p.Thr19162=)
2g.178546691A>TCA60972528TTN,TTN-AS1c.87033T>A (p.Thr29011=)
c.68118T>A (p.Thr22706=)
c.67917T>A (p.Thr22639=)
c.67542T>A (p.Thr22514=)
c.94737T>A (p.Thr31579=)
c.89814T>A (p.Thr29938=)
n.446+23055A>T
n.2043+4330A>T
c.93834T>A (p.Thr31278=)
c.67728T>A (p.Thr22576=)
c.67587T>A (p.Thr22529=)
c.93630T>A (p.Thr31210=)
c.89028T>A (p.Thr29676=)
c.89025T>A (p.Thr29675=)
c.86067T>A (p.Thr28689=)
c.67683T>A (p.Thr22561=)
c.89178T>A (p.Thr29726=)
c.89175T>A (p.Thr29725=)
c.88608T>A (p.Thr29536=)
c.85950T>A (p.Thr28650=)
c.85869T>A (p.Thr28623=)
c.67632T>A (p.Thr22544=)
c.57486T>A (p.Thr19162=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546691_178546693delCA2662126419TTN,TTN-AS1c.87031_87033del (p.Thr29011del)
c.68116_68118del (p.Thr22706del)
c.67915_67917del (p.Thr22639del)
c.67540_67542del (p.Thr22514del)
c.94735_94737del (p.Thr31579del)
c.89812_89814del (p.Thr29938del)
n.446+23055_446+23057del
n.2043+4330_2043+4332del
c.93832_93834del (p.Thr31278del)
c.67726_67728del (p.Thr22576del)
c.67585_67587del (p.Thr22529del)
c.93628_93630del (p.Thr31210del)
c.89026_89028del (p.Thr29676del)
c.89023_89025del (p.Thr29675del)
c.86065_86067del (p.Thr28689del)
c.67681_67683del (p.Thr22561del)
c.89176_89178del (p.Thr29726del)
c.89173_89175del (p.Thr29725del)
c.88606_88608del (p.Thr29536del)
c.85948_85950del (p.Thr28650del)
c.85867_85869del (p.Thr28623del)
c.67630_67632del (p.Thr22544del)
c.57484_57486del (p.Thr19162del)
 gnomAD v4
2g.178546692G>ACA349470833TTN,TTN-AS1c.87032C>T (p.Thr29011Ile)
c.68117C>T (p.Thr22706Ile)
c.67916C>T (p.Thr22639Ile)
c.67541C>T (p.Thr22514Ile)
c.94736C>T (p.Thr31579Ile)
c.89813C>T (p.Thr29938Ile)
n.446+23056G>A
n.2043+4331G>A
c.93833C>T (p.Thr31278Ile)
c.67727C>T (p.Thr22576Ile)
c.67586C>T (p.Thr22529Ile)
c.93629C>T (p.Thr31210Ile)
c.89027C>T (p.Thr29676Ile)
c.89024C>T (p.Thr29675Ile)
c.86066C>T (p.Thr28689Ile)
c.67682C>T (p.Thr22561Ile)
c.89177C>T (p.Thr29726Ile)
c.89174C>T (p.Thr29725Ile)
c.88607C>T (p.Thr29536Ile)
c.85949C>T (p.Thr28650Ile)
c.85868C>T (p.Thr28623Ile)
c.67631C>T (p.Thr22544Ile)
c.57485C>T (p.Thr19162Ile)
2g.178546692G>CCA349470835TTN,TTN-AS1c.87032C>G (p.Thr29011Ser)
c.68117C>G (p.Thr22706Ser)
c.67916C>G (p.Thr22639Ser)
c.67541C>G (p.Thr22514Ser)
c.94736C>G (p.Thr31579Ser)
c.89813C>G (p.Thr29938Ser)
n.446+23056G>C
n.2043+4331G>C
c.93833C>G (p.Thr31278Ser)
c.67727C>G (p.Thr22576Ser)
c.67586C>G (p.Thr22529Ser)
c.93629C>G (p.Thr31210Ser)
c.89027C>G (p.Thr29676Ser)
c.89024C>G (p.Thr29675Ser)
c.86066C>G (p.Thr28689Ser)
c.67682C>G (p.Thr22561Ser)
c.89177C>G (p.Thr29726Ser)
c.89174C>G (p.Thr29725Ser)
c.88607C>G (p.Thr29536Ser)
c.85949C>G (p.Thr28650Ser)
c.85868C>G (p.Thr28623Ser)
c.67631C>G (p.Thr22544Ser)
c.57485C>G (p.Thr19162Ser)
2g.178546692G>TCA349470841TTN,TTN-AS1c.87032C>A (p.Thr29011Asn)
c.68117C>A (p.Thr22706Asn)
c.67916C>A (p.Thr22639Asn)
c.67541C>A (p.Thr22514Asn)
c.94736C>A (p.Thr31579Asn)
c.89813C>A (p.Thr29938Asn)
n.446+23056G>T
n.2043+4331G>T
c.93833C>A (p.Thr31278Asn)
c.67727C>A (p.Thr22576Asn)
c.67586C>A (p.Thr22529Asn)
c.93629C>A (p.Thr31210Asn)
c.89027C>A (p.Thr29676Asn)
c.89024C>A (p.Thr29675Asn)
c.86066C>A (p.Thr28689Asn)
c.67682C>A (p.Thr22561Asn)
c.89177C>A (p.Thr29726Asn)
c.89174C>A (p.Thr29725Asn)
c.88607C>A (p.Thr29536Asn)
c.85949C>A (p.Thr28650Asn)
c.85868C>A (p.Thr28623Asn)
c.67631C>A (p.Thr22544Asn)
c.57485C>A (p.Thr19162Asn)
2g.178546693T>ACA349470854TTN,TTN-AS1c.87031A>T (p.Thr29011Ser)
c.68116A>T (p.Thr22706Ser)
c.67915A>T (p.Thr22639Ser)
c.67540A>T (p.Thr22514Ser)
c.94735A>T (p.Thr31579Ser)
c.89812A>T (p.Thr29938Ser)
n.446+23057T>A
n.2043+4332T>A
c.93832A>T (p.Thr31278Ser)
c.67726A>T (p.Thr22576Ser)
c.67585A>T (p.Thr22529Ser)
c.93628A>T (p.Thr31210Ser)
c.89026A>T (p.Thr29676Ser)
c.89023A>T (p.Thr29675Ser)
c.86065A>T (p.Thr28689Ser)
c.67681A>T (p.Thr22561Ser)
c.89176A>T (p.Thr29726Ser)
c.89173A>T (p.Thr29725Ser)
c.88606A>T (p.Thr29536Ser)
c.85948A>T (p.Thr28650Ser)
c.85867A>T (p.Thr28623Ser)
c.67630A>T (p.Thr22544Ser)
c.57484A>T (p.Thr19162Ser)
2g.178546693T>CCA349470850TTN,TTN-AS1c.87031A>G (p.Thr29011Ala)
c.68116A>G (p.Thr22706Ala)
c.67915A>G (p.Thr22639Ala)
c.67540A>G (p.Thr22514Ala)
c.94735A>G (p.Thr31579Ala)
c.89812A>G (p.Thr29938Ala)
n.446+23057T>C
n.2043+4332T>C
c.93832A>G (p.Thr31278Ala)
c.67726A>G (p.Thr22576Ala)
c.67585A>G (p.Thr22529Ala)
c.93628A>G (p.Thr31210Ala)
c.89026A>G (p.Thr29676Ala)
c.89023A>G (p.Thr29675Ala)
c.86065A>G (p.Thr28689Ala)
c.67681A>G (p.Thr22561Ala)
c.89176A>G (p.Thr29726Ala)
c.89173A>G (p.Thr29725Ala)
c.88606A>G (p.Thr29536Ala)
c.85948A>G (p.Thr28650Ala)
c.85867A>G (p.Thr28623Ala)
c.67630A>G (p.Thr22544Ala)
c.57484A>G (p.Thr19162Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178546693T>GCA349470844TTN,TTN-AS1c.87031A>C (p.Thr29011Pro)
c.68116A>C (p.Thr22706Pro)
c.67915A>C (p.Thr22639Pro)
c.67540A>C (p.Thr22514Pro)
c.94735A>C (p.Thr31579Pro)
c.89812A>C (p.Thr29938Pro)
n.446+23057T>G
n.2043+4332T>G
c.93832A>C (p.Thr31278Pro)
c.67726A>C (p.Thr22576Pro)
c.67585A>C (p.Thr22529Pro)
c.93628A>C (p.Thr31210Pro)
c.89026A>C (p.Thr29676Pro)
c.89023A>C (p.Thr29675Pro)
c.86065A>C (p.Thr28689Pro)
c.67681A>C (p.Thr22561Pro)
c.89176A>C (p.Thr29726Pro)
c.89173A>C (p.Thr29725Pro)
c.88606A>C (p.Thr29536Pro)
c.85948A>C (p.Thr28650Pro)
c.85867A>C (p.Thr28623Pro)
c.67630A>C (p.Thr22544Pro)
c.57484A>C (p.Thr19162Pro)
2g.178546693T=CA1310523333TTN,TTN-AS1c.87031A= (p.Thr29011=)
c.68116A= (p.Thr22706=)
c.67915A= (p.Thr22639=)
c.67540A= (p.Thr22514=)
c.94735A= (p.Thr31579=)
c.89812A= (p.Thr29938=)
n.446+23057T=
n.2043+4332T=
c.93832A= (p.Thr31278=)
c.67726A= (p.Thr22576=)
c.67585A= (p.Thr22529=)
c.93628A= (p.Thr31210=)
c.89026A= (p.Thr29676=)
c.89023A= (p.Thr29675=)
c.86065A= (p.Thr28689=)
c.67681A= (p.Thr22561=)
c.89176A= (p.Thr29726=)
c.89173A= (p.Thr29725=)
c.88606A= (p.Thr29536=)
c.85948A= (p.Thr28650=)
c.85867A= (p.Thr28623=)
c.67630A= (p.Thr22544=)
c.57484A= (p.Thr19162=)
2g.178546694G>ACA430242415TTN,TTN-AS1c.87030C>T (p.Asp29010=)
c.68115C>T (p.Asp22705=)
c.67914C>T (p.Asp22638=)
c.67539C>T (p.Asp22513=)
c.94734C>T (p.Asp31578=)
c.89811C>T (p.Asp29937=)
n.446+23058G>A
n.2043+4333G>A
c.93831C>T (p.Asp31277=)
c.67725C>T (p.Asp22575=)
c.67584C>T (p.Asp22528=)
c.93627C>T (p.Asp31209=)
c.89025C>T (p.Asp29675=)
c.89022C>T (p.Asp29674=)
c.86064C>T (p.Asp28688=)
c.67680C>T (p.Asp22560=)
c.89175C>T (p.Asp29725=)
c.89172C>T (p.Asp29724=)
c.88605C>T (p.Asp29535=)
c.85947C>T (p.Asp28649=)
c.85866C>T (p.Asp28622=)
c.67629C>T (p.Asp22543=)
c.57483C>T (p.Asp19161=)
 ClinVar dbSNP
2g.178546694G>CCA349470860TTN,TTN-AS1c.87030C>G (p.Asp29010Glu)
c.68115C>G (p.Asp22705Glu)
c.67914C>G (p.Asp22638Glu)
c.67539C>G (p.Asp22513Glu)
c.94734C>G (p.Asp31578Glu)
c.89811C>G (p.Asp29937Glu)
n.446+23058G>C
n.2043+4333G>C
c.93831C>G (p.Asp31277Glu)
c.67725C>G (p.Asp22575Glu)
c.67584C>G (p.Asp22528Glu)
c.93627C>G (p.Asp31209Glu)
c.89025C>G (p.Asp29675Glu)
c.89022C>G (p.Asp29674Glu)
c.86064C>G (p.Asp28688Glu)
c.67680C>G (p.Asp22560Glu)
c.89175C>G (p.Asp29725Glu)
c.89172C>G (p.Asp29724Glu)
c.88605C>G (p.Asp29535Glu)
c.85947C>G (p.Asp28649Glu)
c.85866C>G (p.Asp28622Glu)
c.67629C>G (p.Asp22543Glu)
c.57483C>G (p.Asp19161Glu)
2g.178546694G>TCA349470865TTN,TTN-AS1c.87030C>A (p.Asp29010Glu)
c.68115C>A (p.Asp22705Glu)
c.67914C>A (p.Asp22638Glu)
c.67539C>A (p.Asp22513Glu)
c.94734C>A (p.Asp31578Glu)
c.89811C>A (p.Asp29937Glu)
n.446+23058G>T
n.2043+4333G>T
c.93831C>A (p.Asp31277Glu)
c.67725C>A (p.Asp22575Glu)
c.67584C>A (p.Asp22528Glu)
c.93627C>A (p.Asp31209Glu)
c.89025C>A (p.Asp29675Glu)
c.89022C>A (p.Asp29674Glu)
c.86064C>A (p.Asp28688Glu)
c.67680C>A (p.Asp22560Glu)
c.89175C>A (p.Asp29725Glu)
c.89172C>A (p.Asp29724Glu)
c.88605C>A (p.Asp29535Glu)
c.85947C>A (p.Asp28649Glu)
c.85866C>A (p.Asp28622Glu)
c.67629C>A (p.Asp22543Glu)
c.57483C>A (p.Asp19161Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.178546695T>ACA349470871TTN,TTN-AS1c.87029A>T (p.Asp29010Val)
c.68114A>T (p.Asp22705Val)
c.67913A>T (p.Asp22638Val)
c.67538A>T (p.Asp22513Val)
c.94733A>T (p.Asp31578Val)
c.89810A>T (p.Asp29937Val)
n.446+23059T>A
n.2043+4334T>A
c.93830A>T (p.Asp31277Val)
c.67724A>T (p.Asp22575Val)
c.67583A>T (p.Asp22528Val)
c.93626A>T (p.Asp31209Val)
c.89024A>T (p.Asp29675Val)
c.89021A>T (p.Asp29674Val)
c.86063A>T (p.Asp28688Val)
c.67679A>T (p.Asp22560Val)
c.89174A>T (p.Asp29725Val)
c.89171A>T (p.Asp29724Val)
c.88604A>T (p.Asp29535Val)
c.85946A>T (p.Asp28649Val)
c.85865A>T (p.Asp28622Val)
c.67628A>T (p.Asp22543Val)
c.57482A>T (p.Asp19161Val)
2g.178546695T>CCA349470875TTN,TTN-AS1c.87029A>G (p.Asp29010Gly)
c.68114A>G (p.Asp22705Gly)
c.67913A>G (p.Asp22638Gly)
c.67538A>G (p.Asp22513Gly)
c.94733A>G (p.Asp31578Gly)
c.89810A>G (p.Asp29937Gly)
n.446+23059T>C
n.2043+4334T>C
c.93830A>G (p.Asp31277Gly)
c.67724A>G (p.Asp22575Gly)
c.67583A>G (p.Asp22528Gly)
c.93626A>G (p.Asp31209Gly)
c.89024A>G (p.Asp29675Gly)
c.89021A>G (p.Asp29674Gly)
c.86063A>G (p.Asp28688Gly)
c.67679A>G (p.Asp22560Gly)
c.89174A>G (p.Asp29725Gly)
c.89171A>G (p.Asp29724Gly)
c.88604A>G (p.Asp29535Gly)
c.85946A>G (p.Asp28649Gly)
c.85865A>G (p.Asp28622Gly)
c.67628A>G (p.Asp22543Gly)
c.57482A>G (p.Asp19161Gly)
2g.178546695T>GCA349470873TTN,TTN-AS1c.87029A>C (p.Asp29010Ala)
c.68114A>C (p.Asp22705Ala)
c.67913A>C (p.Asp22638Ala)
c.67538A>C (p.Asp22513Ala)
c.94733A>C (p.Asp31578Ala)
c.89810A>C (p.Asp29937Ala)
n.446+23059T>G
n.2043+4334T>G
c.93830A>C (p.Asp31277Ala)
c.67724A>C (p.Asp22575Ala)
c.67583A>C (p.Asp22528Ala)
c.93626A>C (p.Asp31209Ala)
c.89024A>C (p.Asp29675Ala)
c.89021A>C (p.Asp29674Ala)
c.86063A>C (p.Asp28688Ala)
c.67679A>C (p.Asp22560Ala)
c.89174A>C (p.Asp29725Ala)
c.89171A>C (p.Asp29724Ala)
c.88604A>C (p.Asp29535Ala)
c.85946A>C (p.Asp28649Ala)
c.85865A>C (p.Asp28622Ala)
c.67628A>C (p.Asp22543Ala)
c.57482A>C (p.Asp19161Ala)
2g.178546696C>ACA349470881TTN,TTN-AS1c.87028G>T (p.Asp29010Tyr)
c.68113G>T (p.Asp22705Tyr)
c.67912G>T (p.Asp22638Tyr)
c.67537G>T (p.Asp22513Tyr)
c.94732G>T (p.Asp31578Tyr)
c.89809G>T (p.Asp29937Tyr)
n.446+23060C>A
n.2043+4335C>A
c.93829G>T (p.Asp31277Tyr)
c.67723G>T (p.Asp22575Tyr)
c.67582G>T (p.Asp22528Tyr)
c.93625G>T (p.Asp31209Tyr)
c.89023G>T (p.Asp29675Tyr)
c.89020G>T (p.Asp29674Tyr)
c.86062G>T (p.Asp28688Tyr)
c.67678G>T (p.Asp22560Tyr)
c.89173G>T (p.Asp29725Tyr)
c.89170G>T (p.Asp29724Tyr)
c.88603G>T (p.Asp29535Tyr)
c.85945G>T (p.Asp28649Tyr)
c.85864G>T (p.Asp28622Tyr)
c.67627G>T (p.Asp22543Tyr)
c.57481G>T (p.Asp19161Tyr)
2g.178546696C>GCA349470889TTN,TTN-AS1c.87028G>C (p.Asp29010His)
c.68113G>C (p.Asp22705His)
c.67912G>C (p.Asp22638His)
c.67537G>C (p.Asp22513His)
c.94732G>C (p.Asp31578His)
c.89809G>C (p.Asp29937His)
n.446+23060C>G
n.2043+4335C>G
c.93829G>C (p.Asp31277His)
c.67723G>C (p.Asp22575His)
c.67582G>C (p.Asp22528His)
c.93625G>C (p.Asp31209His)
c.89023G>C (p.Asp29675His)
c.89020G>C (p.Asp29674His)
c.86062G>C (p.Asp28688His)
c.67678G>C (p.Asp22560His)
c.89173G>C (p.Asp29725His)
c.89170G>C (p.Asp29724His)
c.88603G>C (p.Asp29535His)
c.85945G>C (p.Asp28649His)
c.85864G>C (p.Asp28622His)
c.67627G>C (p.Asp22543His)
c.57481G>C (p.Asp19161His)
2g.178546696C>TCA349470901TTN,TTN-AS1c.87028G>A (p.Asp29010Asn)
c.68113G>A (p.Asp22705Asn)
c.67912G>A (p.Asp22638Asn)
c.67537G>A (p.Asp22513Asn)
c.94732G>A (p.Asp31578Asn)
c.89809G>A (p.Asp29937Asn)
n.446+23060C>T
n.2043+4335C>T
c.93829G>A (p.Asp31277Asn)
c.67723G>A (p.Asp22575Asn)
c.67582G>A (p.Asp22528Asn)
c.93625G>A (p.Asp31209Asn)
c.89023G>A (p.Asp29675Asn)
c.89020G>A (p.Asp29674Asn)
c.86062G>A (p.Asp28688Asn)
c.67678G>A (p.Asp22560Asn)
c.89173G>A (p.Asp29725Asn)
c.89170G>A (p.Asp29724Asn)
c.88603G>A (p.Asp29535Asn)
c.85945G>A (p.Asp28649Asn)
c.85864G>A (p.Asp28622Asn)
c.67627G>A (p.Asp22543Asn)
c.57481G>A (p.Asp19161Asn)
2g.178546697T>ACA430242416TTN,TTN-AS1c.87027A>T (p.Gly29009=)
c.68112A>T (p.Gly22704=)
c.67911A>T (p.Gly22637=)
c.67536A>T (p.Gly22512=)
c.94731A>T (p.Gly31577=)
c.89808A>T (p.Gly29936=)
n.446+23061T>A
n.2043+4336T>A
c.93828A>T (p.Gly31276=)
c.67722A>T (p.Gly22574=)
c.67581A>T (p.Gly22527=)
c.93624A>T (p.Gly31208=)
c.89022A>T (p.Gly29674=)
c.89019A>T (p.Gly29673=)
c.86061A>T (p.Gly28687=)
c.67677A>T (p.Gly22559=)
c.89172A>T (p.Gly29724=)
c.89169A>T (p.Gly29723=)
c.88602A>T (p.Gly29534=)
c.85944A>T (p.Gly28648=)
c.85863A>T (p.Gly28621=)
c.67626A>T (p.Gly22542=)
c.57480A>T (p.Gly19160=)
2g.178546697T>CCA430242417TTN,TTN-AS1c.87027A>G (p.Gly29009=)
c.68112A>G (p.Gly22704=)
c.67911A>G (p.Gly22637=)
c.67536A>G (p.Gly22512=)
c.94731A>G (p.Gly31577=)
c.89808A>G (p.Gly29936=)
n.446+23061T>C
n.2043+4336T>C
c.93828A>G (p.Gly31276=)
c.67722A>G (p.Gly22574=)
c.67581A>G (p.Gly22527=)
c.93624A>G (p.Gly31208=)
c.89022A>G (p.Gly29674=)
c.89019A>G (p.Gly29673=)
c.86061A>G (p.Gly28687=)
c.67677A>G (p.Gly22559=)
c.89172A>G (p.Gly29724=)
c.89169A>G (p.Gly29723=)
c.88602A>G (p.Gly29534=)
c.85944A>G (p.Gly28648=)
c.85863A>G (p.Gly28621=)
c.67626A>G (p.Gly22542=)
c.57480A>G (p.Gly19160=)
2g.178546697T>GCA430242418TTN,TTN-AS1c.87027A>C (p.Gly29009=)
c.68112A>C (p.Gly22704=)
c.67911A>C (p.Gly22637=)
c.67536A>C (p.Gly22512=)
c.94731A>C (p.Gly31577=)
c.89808A>C (p.Gly29936=)
n.446+23061T>G
n.2043+4336T>G
c.93828A>C (p.Gly31276=)
c.67722A>C (p.Gly22574=)
c.67581A>C (p.Gly22527=)
c.93624A>C (p.Gly31208=)
c.89022A>C (p.Gly29674=)
c.89019A>C (p.Gly29673=)
c.86061A>C (p.Gly28687=)
c.67677A>C (p.Gly22559=)
c.89172A>C (p.Gly29724=)
c.89169A>C (p.Gly29723=)
c.88602A>C (p.Gly29534=)
c.85944A>C (p.Gly28648=)
c.85863A>C (p.Gly28621=)
c.67626A>C (p.Gly22542=)
c.57480A>C (p.Gly19160=)
2g.178546698C>ACA349470904TTN,TTN-AS1c.87026G>T (p.Gly29009Val)
c.68111G>T (p.Gly22704Val)
c.67910G>T (p.Gly22637Val)
c.67535G>T (p.Gly22512Val)
c.94730G>T (p.Gly31577Val)
c.89807G>T (p.Gly29936Val)
n.446+23062C>A
n.2043+4337C>A
c.93827G>T (p.Gly31276Val)
c.67721G>T (p.Gly22574Val)
c.67580G>T (p.Gly22527Val)
c.93623G>T (p.Gly31208Val)
c.89021G>T (p.Gly29674Val)
c.89018G>T (p.Gly29673Val)
c.86060G>T (p.Gly28687Val)
c.67676G>T (p.Gly22559Val)
c.89171G>T (p.Gly29724Val)
c.89168G>T (p.Gly29723Val)
c.88601G>T (p.Gly29534Val)
c.85943G>T (p.Gly28648Val)
c.85862G>T (p.Gly28621Val)
c.67625G>T (p.Gly22542Val)
c.57479G>T (p.Gly19160Val)
2g.178546698C>GCA349470915TTN,TTN-AS1c.87026G>C (p.Gly29009Ala)
c.68111G>C (p.Gly22704Ala)
c.67910G>C (p.Gly22637Ala)
c.67535G>C (p.Gly22512Ala)
c.94730G>C (p.Gly31577Ala)
c.89807G>C (p.Gly29936Ala)
n.446+23062C>G
n.2043+4337C>G
c.93827G>C (p.Gly31276Ala)
c.67721G>C (p.Gly22574Ala)
c.67580G>C (p.Gly22527Ala)
c.93623G>C (p.Gly31208Ala)
c.89021G>C (p.Gly29674Ala)
c.89018G>C (p.Gly29673Ala)
c.86060G>C (p.Gly28687Ala)
c.67676G>C (p.Gly22559Ala)
c.89171G>C (p.Gly29724Ala)
c.89168G>C (p.Gly29723Ala)
c.88601G>C (p.Gly29534Ala)
c.85943G>C (p.Gly28648Ala)
c.85862G>C (p.Gly28621Ala)
c.67625G>C (p.Gly22542Ala)
c.57479G>C (p.Gly19160Ala)
2g.178546698C>TCA349470922TTN,TTN-AS1c.87026G>A (p.Gly29009Glu)
c.68111G>A (p.Gly22704Glu)
c.67910G>A (p.Gly22637Glu)
c.67535G>A (p.Gly22512Glu)
c.94730G>A (p.Gly31577Glu)
c.89807G>A (p.Gly29936Glu)
n.446+23062C>T
n.2043+4337C>T
c.93827G>A (p.Gly31276Glu)
c.67721G>A (p.Gly22574Glu)
c.67580G>A (p.Gly22527Glu)
c.93623G>A (p.Gly31208Glu)
c.89021G>A (p.Gly29674Glu)
c.89018G>A (p.Gly29673Glu)
c.86060G>A (p.Gly28687Glu)
c.67676G>A (p.Gly22559Glu)
c.89171G>A (p.Gly29724Glu)
c.89168G>A (p.Gly29723Glu)
c.88601G>A (p.Gly29534Glu)
c.85943G>A (p.Gly28648Glu)
c.85862G>A (p.Gly28621Glu)
c.67625G>A (p.Gly22542Glu)
c.57479G>A (p.Gly19160Glu)
2g.178546699delCA2662120705TTN,TTN-AS1c.87026del (p.Gly29009GlufsTer9)
c.68111del (p.Gly22704GlufsTer9)
c.67910del (p.Gly22637GlufsTer9)
c.67535del (p.Gly22512GlufsTer9)
c.94730del (p.Gly31577GlufsTer9)
c.89807del (p.Gly29936GlufsTer9)
n.446+23063del
n.2043+4338del
c.93827del (p.Gly31276GlufsTer9)
c.67721del (p.Gly22574GlufsTer9)
c.67580del (p.Gly22527GlufsTer9)
c.93623del (p.Gly31208GlufsTer9)
c.89021del (p.Gly29674GlufsTer9)
c.89018del (p.Gly29673GlufsTer9)
c.86060del (p.Gly28687GlufsTer9)
c.67676del (p.Gly22559GlufsTer9)
c.89171del (p.Gly29724GlufsTer9)
c.89168del (p.Gly29723GlufsTer9)
c.88601del (p.Gly29534GlufsTer9)
c.85943del (p.Gly28648GlufsTer9)
c.85862del (p.Gly28621GlufsTer9)
c.67625del (p.Gly22542GlufsTer9)
c.57479del (p.Gly19160GlufsTer9)
 gnomAD v4
2g.178546699C>ACA349470923TTN,TTN-AS1c.87025G>T (p.Gly29009Ter)
c.68110G>T (p.Gly22704Ter)
c.67909G>T (p.Gly22637Ter)
c.67534G>T (p.Gly22512Ter)
c.94729G>T (p.Gly31577Ter)
c.89806G>T (p.Gly29936Ter)
n.446+23063C>A
n.2043+4338C>A
c.93826G>T (p.Gly31276Ter)
c.67720G>T (p.Gly22574Ter)
c.67579G>T (p.Gly22527Ter)
c.93622G>T (p.Gly31208Ter)
c.89020G>T (p.Gly29674Ter)
c.89017G>T (p.Gly29673Ter)
c.86059G>T (p.Gly28687Ter)
c.67675G>T (p.Gly22559Ter)
c.89170G>T (p.Gly29724Ter)
c.89167G>T (p.Gly29723Ter)
c.88600G>T (p.Gly29534Ter)
c.85942G>T (p.Gly28648Ter)
c.85861G>T (p.Gly28621Ter)
c.67624G>T (p.Gly22542Ter)
c.57478G>T (p.Gly19160Ter)
 ClinVar dbSNP
2g.178546699C=CA1310523334TTN,TTN-AS1c.87025G= (p.Gly29009=)
c.68110G= (p.Gly22704=)
c.67909G= (p.Gly22637=)
c.67534G= (p.Gly22512=)
c.94729G= (p.Gly31577=)
c.89806G= (p.Gly29936=)
n.446+23063C=
n.2043+4338C=
c.93826G= (p.Gly31276=)
c.67720G= (p.Gly22574=)
c.67579G= (p.Gly22527=)
c.93622G= (p.Gly31208=)
c.89020G= (p.Gly29674=)
c.89017G= (p.Gly29673=)
c.86059G= (p.Gly28687=)
c.67675G= (p.Gly22559=)
c.89170G= (p.Gly29724=)
c.89167G= (p.Gly29723=)
c.88600G= (p.Gly29534=)
c.85942G= (p.Gly28648=)
c.85861G= (p.Gly28621=)
c.67624G= (p.Gly22542=)
c.57478G= (p.Gly19160=)
2g.178546699C>GCA349470930TTN,TTN-AS1c.87025G>C (p.Gly29009Arg)
c.68110G>C (p.Gly22704Arg)
c.67909G>C (p.Gly22637Arg)
c.67534G>C (p.Gly22512Arg)
c.94729G>C (p.Gly31577Arg)
c.89806G>C (p.Gly29936Arg)
n.446+23063C>G
n.2043+4338C>G
c.93826G>C (p.Gly31276Arg)
c.67720G>C (p.Gly22574Arg)
c.67579G>C (p.Gly22527Arg)
c.93622G>C (p.Gly31208Arg)
c.89020G>C (p.Gly29674Arg)
c.89017G>C (p.Gly29673Arg)
c.86059G>C (p.Gly28687Arg)
c.67675G>C (p.Gly22559Arg)
c.89170G>C (p.Gly29724Arg)
c.89167G>C (p.Gly29723Arg)
c.88600G>C (p.Gly29534Arg)
c.85942G>C (p.Gly28648Arg)
c.85861G>C (p.Gly28621Arg)
c.67624G>C (p.Gly22542Arg)
c.57478G>C (p.Gly19160Arg)
2g.178546699C>TCA349470935TTN,TTN-AS1c.87025G>A (p.Gly29009Arg)
c.68110G>A (p.Gly22704Arg)
c.67909G>A (p.Gly22637Arg)
c.67534G>A (p.Gly22512Arg)
c.94729G>A (p.Gly31577Arg)
c.89806G>A (p.Gly29936Arg)
n.446+23063C>T
n.2043+4338C>T
c.93826G>A (p.Gly31276Arg)
c.67720G>A (p.Gly22574Arg)
c.67579G>A (p.Gly22527Arg)
c.93622G>A (p.Gly31208Arg)
c.89020G>A (p.Gly29674Arg)
c.89017G>A (p.Gly29673Arg)
c.86059G>A (p.Gly28687Arg)
c.67675G>A (p.Gly22559Arg)
c.89170G>A (p.Gly29724Arg)
c.89167G>A (p.Gly29723Arg)
c.88600G>A (p.Gly29534Arg)
c.85942G>A (p.Gly28648Arg)
c.85861G>A (p.Gly28621Arg)
c.67624G>A (p.Gly22542Arg)
c.57478G>A (p.Gly19160Arg)
2g.178546700T>ACA349470936TTN,TTN-AS1c.87024A>T (p.Glu29008Asp)
c.68109A>T (p.Glu22703Asp)
c.67908A>T (p.Glu22636Asp)
c.67533A>T (p.Glu22511Asp)
c.94728A>T (p.Glu31576Asp)
c.89805A>T (p.Glu29935Asp)
n.446+23064T>A
n.2043+4339T>A
c.93825A>T (p.Glu31275Asp)
c.67719A>T (p.Glu22573Asp)
c.67578A>T (p.Glu22526Asp)
c.93621A>T (p.Glu31207Asp)
c.89019A>T (p.Glu29673Asp)
c.89016A>T (p.Glu29672Asp)
c.86058A>T (p.Glu28686Asp)
c.67674A>T (p.Glu22558Asp)
c.89169A>T (p.Glu29723Asp)
c.89166A>T (p.Glu29722Asp)
c.88599A>T (p.Glu29533Asp)
c.85941A>T (p.Glu28647Asp)
c.85860A>T (p.Glu28620Asp)
c.67623A>T (p.Glu22541Asp)
c.57477A>T (p.Glu19159Asp)
2g.178546700T>CCA430242419TTN,TTN-AS1c.87024A>G (p.Glu29008=)
c.68109A>G (p.Glu22703=)
c.67908A>G (p.Glu22636=)
c.67533A>G (p.Glu22511=)
c.94728A>G (p.Glu31576=)
c.89805A>G (p.Glu29935=)
n.446+23064T>C
n.2043+4339T>C
c.93825A>G (p.Glu31275=)
c.67719A>G (p.Glu22573=)
c.67578A>G (p.Glu22526=)
c.93621A>G (p.Glu31207=)
c.89019A>G (p.Glu29673=)
c.89016A>G (p.Glu29672=)
c.86058A>G (p.Glu28686=)
c.67674A>G (p.Glu22558=)
c.89169A>G (p.Glu29723=)
c.89166A>G (p.Glu29722=)
c.88599A>G (p.Glu29533=)
c.85941A>G (p.Glu28647=)
c.85860A>G (p.Glu28620=)
c.67623A>G (p.Glu22541=)
c.57477A>G (p.Glu19159=)
 ClinVar dbSNP
2g.178546700T>GCA349470937TTN,TTN-AS1c.87024A>C (p.Glu29008Asp)
c.68109A>C (p.Glu22703Asp)
c.67908A>C (p.Glu22636Asp)
c.67533A>C (p.Glu22511Asp)
c.94728A>C (p.Glu31576Asp)
c.89805A>C (p.Glu29935Asp)
n.446+23064T>G
n.2043+4339T>G
c.93825A>C (p.Glu31275Asp)
c.67719A>C (p.Glu22573Asp)
c.67578A>C (p.Glu22526Asp)
c.93621A>C (p.Glu31207Asp)
c.89019A>C (p.Glu29673Asp)
c.89016A>C (p.Glu29672Asp)
c.86058A>C (p.Glu28686Asp)
c.67674A>C (p.Glu22558Asp)
c.89169A>C (p.Glu29723Asp)
c.89166A>C (p.Glu29722Asp)
c.88599A>C (p.Glu29533Asp)
c.85941A>C (p.Glu28647Asp)
c.85860A>C (p.Glu28620Asp)
c.67623A>C (p.Glu22541Asp)
c.57477A>C (p.Glu19159Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546700T=CA1310523336TTN,TTN-AS1c.87024A= (p.Glu29008=)
c.68109A= (p.Glu22703=)
c.67908A= (p.Glu22636=)
c.67533A= (p.Glu22511=)
c.94728A= (p.Glu31576=)
c.89805A= (p.Glu29935=)
n.446+23064T=
n.2043+4339T=
c.93825A= (p.Glu31275=)
c.67719A= (p.Glu22573=)
c.67578A= (p.Glu22526=)
c.93621A= (p.Glu31207=)
c.89019A= (p.Glu29673=)
c.89016A= (p.Glu29672=)
c.86058A= (p.Glu28686=)
c.67674A= (p.Glu22558=)
c.89169A= (p.Glu29723=)
c.89166A= (p.Glu29722=)
c.88599A= (p.Glu29533=)
c.85941A= (p.Glu28647=)
c.85860A= (p.Glu28620=)
c.67623A= (p.Glu22541=)
c.57477A= (p.Glu19159=)
2g.178546701T>ACA349470940TTN,TTN-AS1c.87023A>T (p.Glu29008Val)
c.68108A>T (p.Glu22703Val)
c.67907A>T (p.Glu22636Val)
c.67532A>T (p.Glu22511Val)
c.94727A>T (p.Glu31576Val)
c.89804A>T (p.Glu29935Val)
n.446+23065T>A
n.2043+4340T>A
c.93824A>T (p.Glu31275Val)
c.67718A>T (p.Glu22573Val)
c.67577A>T (p.Glu22526Val)
c.93620A>T (p.Glu31207Val)
c.89018A>T (p.Glu29673Val)
c.89015A>T (p.Glu29672Val)
c.86057A>T (p.Glu28686Val)
c.67673A>T (p.Glu22558Val)
c.89168A>T (p.Glu29723Val)
c.89165A>T (p.Glu29722Val)
c.88598A>T (p.Glu29533Val)
c.85940A>T (p.Glu28647Val)
c.85859A>T (p.Glu28620Val)
c.67622A>T (p.Glu22541Val)
c.57476A>T (p.Glu19159Val)
2g.178546701T>CCA349470938TTN,TTN-AS1c.87023A>G (p.Glu29008Gly)
c.68108A>G (p.Glu22703Gly)
c.67907A>G (p.Glu22636Gly)
c.67532A>G (p.Glu22511Gly)
c.94727A>G (p.Glu31576Gly)
c.89804A>G (p.Glu29935Gly)
n.446+23065T>C
n.2043+4340T>C
c.93824A>G (p.Glu31275Gly)
c.67718A>G (p.Glu22573Gly)
c.67577A>G (p.Glu22526Gly)
c.93620A>G (p.Glu31207Gly)
c.89018A>G (p.Glu29673Gly)
c.89015A>G (p.Glu29672Gly)
c.86057A>G (p.Glu28686Gly)
c.67673A>G (p.Glu22558Gly)
c.89168A>G (p.Glu29723Gly)
c.89165A>G (p.Glu29722Gly)
c.88598A>G (p.Glu29533Gly)
c.85940A>G (p.Glu28647Gly)
c.85859A>G (p.Glu28620Gly)
c.67622A>G (p.Glu22541Gly)
c.57476A>G (p.Glu19159Gly)
2g.178546701T>GCA349470939TTN,TTN-AS1c.87023A>C (p.Glu29008Ala)
c.68108A>C (p.Glu22703Ala)
c.67907A>C (p.Glu22636Ala)
c.67532A>C (p.Glu22511Ala)
c.94727A>C (p.Glu31576Ala)
c.89804A>C (p.Glu29935Ala)
n.446+23065T>G
n.2043+4340T>G
c.93824A>C (p.Glu31275Ala)
c.67718A>C (p.Glu22573Ala)
c.67577A>C (p.Glu22526Ala)
c.93620A>C (p.Glu31207Ala)
c.89018A>C (p.Glu29673Ala)
c.89015A>C (p.Glu29672Ala)
c.86057A>C (p.Glu28686Ala)
c.67673A>C (p.Glu22558Ala)
c.89168A>C (p.Glu29723Ala)
c.89165A>C (p.Glu29722Ala)
c.88598A>C (p.Glu29533Ala)
c.85940A>C (p.Glu28647Ala)
c.85859A>C (p.Glu28620Ala)
c.67622A>C (p.Glu22541Ala)
c.57476A>C (p.Glu19159Ala)
2g.178546702C>ACA349470941TTN,TTN-AS1c.87022G>T (p.Glu29008Ter)
c.68107G>T (p.Glu22703Ter)
c.67906G>T (p.Glu22636Ter)
c.67531G>T (p.Glu22511Ter)
c.94726G>T (p.Glu31576Ter)
c.89803G>T (p.Glu29935Ter)
n.446+23066C>A
n.2043+4341C>A
c.93823G>T (p.Glu31275Ter)
c.67717G>T (p.Glu22573Ter)
c.67576G>T (p.Glu22526Ter)
c.93619G>T (p.Glu31207Ter)
c.89017G>T (p.Glu29673Ter)
c.89014G>T (p.Glu29672Ter)
c.86056G>T (p.Glu28686Ter)
c.67672G>T (p.Glu22558Ter)
c.89167G>T (p.Glu29723Ter)
c.89164G>T (p.Glu29722Ter)
c.88597G>T (p.Glu29533Ter)
c.85939G>T (p.Glu28647Ter)
c.85858G>T (p.Glu28620Ter)
c.67621G>T (p.Glu22541Ter)
c.57475G>T (p.Glu19159Ter)
2g.178546702C>GCA349470942TTN,TTN-AS1c.87022G>C (p.Glu29008Gln)
c.68107G>C (p.Glu22703Gln)
c.67906G>C (p.Glu22636Gln)
c.67531G>C (p.Glu22511Gln)
c.94726G>C (p.Glu31576Gln)
c.89803G>C (p.Glu29935Gln)
n.446+23066C>G
n.2043+4341C>G
c.93823G>C (p.Glu31275Gln)
c.67717G>C (p.Glu22573Gln)
c.67576G>C (p.Glu22526Gln)
c.93619G>C (p.Glu31207Gln)
c.89017G>C (p.Glu29673Gln)
c.89014G>C (p.Glu29672Gln)
c.86056G>C (p.Glu28686Gln)
c.67672G>C (p.Glu22558Gln)
c.89167G>C (p.Glu29723Gln)
c.89164G>C (p.Glu29722Gln)
c.88597G>C (p.Glu29533Gln)
c.85939G>C (p.Glu28647Gln)
c.85858G>C (p.Glu28620Gln)
c.67621G>C (p.Glu22541Gln)
c.57475G>C (p.Glu19159Gln)
2g.178546702C>TCA349470943TTN,TTN-AS1c.87022G>A (p.Glu29008Lys)
c.68107G>A (p.Glu22703Lys)
c.67906G>A (p.Glu22636Lys)
c.67531G>A (p.Glu22511Lys)
c.94726G>A (p.Glu31576Lys)
c.89803G>A (p.Glu29935Lys)
n.446+23066C>T
n.2043+4341C>T
c.93823G>A (p.Glu31275Lys)
c.67717G>A (p.Glu22573Lys)
c.67576G>A (p.Glu22526Lys)
c.93619G>A (p.Glu31207Lys)
c.89017G>A (p.Glu29673Lys)
c.89014G>A (p.Glu29672Lys)
c.86056G>A (p.Glu28686Lys)
c.67672G>A (p.Glu22558Lys)
c.89167G>A (p.Glu29723Lys)
c.89164G>A (p.Glu29722Lys)
c.88597G>A (p.Glu29533Lys)
c.85939G>A (p.Glu28647Lys)
c.85858G>A (p.Glu28620Lys)
c.67621G>A (p.Glu22541Lys)
c.57475G>A (p.Glu19159Lys)
2g.178546703A=CA1310523339TTN,TTN-AS1c.87021T= (p.Ser29007=)
c.68106T= (p.Ser22702=)
c.67905T= (p.Ser22635=)
c.67530T= (p.Ser22510=)
c.94725T= (p.Ser31575=)
c.89802T= (p.Ser29934=)
n.446+23067A=
n.2043+4342A=
c.93822T= (p.Ser31274=)
c.67716T= (p.Ser22572=)
c.67575T= (p.Ser22525=)
c.93618T= (p.Ser31206=)
c.89016T= (p.Ser29672=)
c.89013T= (p.Ser29671=)
c.86055T= (p.Ser28685=)
c.67671T= (p.Ser22557=)
c.89166T= (p.Ser29722=)
c.89163T= (p.Ser29721=)
c.88596T= (p.Ser29532=)
c.85938T= (p.Ser28646=)
c.85857T= (p.Ser28619=)
c.67620T= (p.Ser22540=)
c.57474T= (p.Ser19158=)
2g.178546703A>CCA349470944TTN,TTN-AS1c.87021T>G (p.Ser29007Arg)
c.68106T>G (p.Ser22702Arg)
c.67905T>G (p.Ser22635Arg)
c.67530T>G (p.Ser22510Arg)
c.94725T>G (p.Ser31575Arg)
c.89802T>G (p.Ser29934Arg)
n.446+23067A>C
n.2043+4342A>C
c.93822T>G (p.Ser31274Arg)
c.67716T>G (p.Ser22572Arg)
c.67575T>G (p.Ser22525Arg)
c.93618T>G (p.Ser31206Arg)
c.89016T>G (p.Ser29672Arg)
c.89013T>G (p.Ser29671Arg)
c.86055T>G (p.Ser28685Arg)
c.67671T>G (p.Ser22557Arg)
c.89166T>G (p.Ser29722Arg)
c.89163T>G (p.Ser29721Arg)
c.88596T>G (p.Ser29532Arg)
c.85938T>G (p.Ser28646Arg)
c.85857T>G (p.Ser28619Arg)
c.67620T>G (p.Ser22540Arg)
c.57474T>G (p.Ser19158Arg)
2g.178546703A>GCA430242420TTN,TTN-AS1c.87021T>C (p.Ser29007=)
c.68106T>C (p.Ser22702=)
c.67905T>C (p.Ser22635=)
c.67530T>C (p.Ser22510=)
c.94725T>C (p.Ser31575=)
c.89802T>C (p.Ser29934=)
n.446+23067A>G
n.2043+4342A>G
c.93822T>C (p.Ser31274=)
c.67716T>C (p.Ser22572=)
c.67575T>C (p.Ser22525=)
c.93618T>C (p.Ser31206=)
c.89016T>C (p.Ser29672=)
c.89013T>C (p.Ser29671=)
c.86055T>C (p.Ser28685=)
c.67671T>C (p.Ser22557=)
c.89166T>C (p.Ser29722=)
c.89163T>C (p.Ser29721=)
c.88596T>C (p.Ser29532=)
c.85938T>C (p.Ser28646=)
c.85857T>C (p.Ser28619=)
c.67620T>C (p.Ser22540=)
c.57474T>C (p.Ser19158=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546703A>TCA349470945TTN,TTN-AS1c.87021T>A (p.Ser29007Arg)
c.68106T>A (p.Ser22702Arg)
c.67905T>A (p.Ser22635Arg)
c.67530T>A (p.Ser22510Arg)
c.94725T>A (p.Ser31575Arg)
c.89802T>A (p.Ser29934Arg)
n.446+23067A>T
n.2043+4342A>T
c.93822T>A (p.Ser31274Arg)
c.67716T>A (p.Ser22572Arg)
c.67575T>A (p.Ser22525Arg)
c.93618T>A (p.Ser31206Arg)
c.89016T>A (p.Ser29672Arg)
c.89013T>A (p.Ser29671Arg)
c.86055T>A (p.Ser28685Arg)
c.67671T>A (p.Ser22557Arg)
c.89166T>A (p.Ser29722Arg)
c.89163T>A (p.Ser29721Arg)
c.88596T>A (p.Ser29532Arg)
c.85938T>A (p.Ser28646Arg)
c.85857T>A (p.Ser28619Arg)
c.67620T>A (p.Ser22540Arg)
c.57474T>A (p.Ser19158Arg)
2g.178546704C>ACA349470946TTN,TTN-AS1c.87020G>T (p.Ser29007Ile)
c.68105G>T (p.Ser22702Ile)
c.67904G>T (p.Ser22635Ile)
c.67529G>T (p.Ser22510Ile)
c.94724G>T (p.Ser31575Ile)
c.89801G>T (p.Ser29934Ile)
n.446+23068C>A
n.2043+4343C>A
c.93821G>T (p.Ser31274Ile)
c.67715G>T (p.Ser22572Ile)
c.67574G>T (p.Ser22525Ile)
c.93617G>T (p.Ser31206Ile)
c.89015G>T (p.Ser29672Ile)
c.89012G>T (p.Ser29671Ile)
c.86054G>T (p.Ser28685Ile)
c.67670G>T (p.Ser22557Ile)
c.89165G>T (p.Ser29722Ile)
c.89162G>T (p.Ser29721Ile)
c.88595G>T (p.Ser29532Ile)
c.85937G>T (p.Ser28646Ile)
c.85856G>T (p.Ser28619Ile)
c.67619G>T (p.Ser22540Ile)
c.57473G>T (p.Ser19158Ile)
2g.178546704C>GCA349470948TTN,TTN-AS1c.87020G>C (p.Ser29007Thr)
c.68105G>C (p.Ser22702Thr)
c.67904G>C (p.Ser22635Thr)
c.67529G>C (p.Ser22510Thr)
c.94724G>C (p.Ser31575Thr)
c.89801G>C (p.Ser29934Thr)
n.446+23068C>G
n.2043+4343C>G
c.93821G>C (p.Ser31274Thr)
c.67715G>C (p.Ser22572Thr)
c.67574G>C (p.Ser22525Thr)
c.93617G>C (p.Ser31206Thr)
c.89015G>C (p.Ser29672Thr)
c.89012G>C (p.Ser29671Thr)
c.86054G>C (p.Ser28685Thr)
c.67670G>C (p.Ser22557Thr)
c.89165G>C (p.Ser29722Thr)
c.89162G>C (p.Ser29721Thr)
c.88595G>C (p.Ser29532Thr)
c.85937G>C (p.Ser28646Thr)
c.85856G>C (p.Ser28619Thr)
c.67619G>C (p.Ser22540Thr)
c.57473G>C (p.Ser19158Thr)
2g.178546704C>TCA349470949TTN,TTN-AS1c.87020G>A (p.Ser29007Asn)
c.68105G>A (p.Ser22702Asn)
c.67904G>A (p.Ser22635Asn)
c.67529G>A (p.Ser22510Asn)
c.94724G>A (p.Ser31575Asn)
c.89801G>A (p.Ser29934Asn)
n.446+23068C>T
n.2043+4343C>T
c.93821G>A (p.Ser31274Asn)
c.67715G>A (p.Ser22572Asn)
c.67574G>A (p.Ser22525Asn)
c.93617G>A (p.Ser31206Asn)
c.89015G>A (p.Ser29672Asn)
c.89012G>A (p.Ser29671Asn)
c.86054G>A (p.Ser28685Asn)
c.67670G>A (p.Ser22557Asn)
c.89165G>A (p.Ser29722Asn)
c.89162G>A (p.Ser29721Asn)
c.88595G>A (p.Ser29532Asn)
c.85937G>A (p.Ser28646Asn)
c.85856G>A (p.Ser28619Asn)
c.67619G>A (p.Ser22540Asn)
c.57473G>A (p.Ser19158Asn)
2g.178546705T>ACA349470959TTN,TTN-AS1c.87019A>T (p.Ser29007Cys)
c.68104A>T (p.Ser22702Cys)
c.67903A>T (p.Ser22635Cys)
c.67528A>T (p.Ser22510Cys)
c.94723A>T (p.Ser31575Cys)
c.89800A>T (p.Ser29934Cys)
n.446+23069T>A
n.2043+4344T>A
c.93820A>T (p.Ser31274Cys)
c.67714A>T (p.Ser22572Cys)
c.67573A>T (p.Ser22525Cys)
c.93616A>T (p.Ser31206Cys)
c.89014A>T (p.Ser29672Cys)
c.89011A>T (p.Ser29671Cys)
c.86053A>T (p.Ser28685Cys)
c.67669A>T (p.Ser22557Cys)
c.89164A>T (p.Ser29722Cys)
c.89161A>T (p.Ser29721Cys)
c.88594A>T (p.Ser29532Cys)
c.85936A>T (p.Ser28646Cys)
c.85855A>T (p.Ser28619Cys)
c.67618A>T (p.Ser22540Cys)
c.57472A>T (p.Ser19158Cys)
2g.178546705T>CCA349470961TTN,TTN-AS1c.87019A>G (p.Ser29007Gly)
c.68104A>G (p.Ser22702Gly)
c.67903A>G (p.Ser22635Gly)
c.67528A>G (p.Ser22510Gly)
c.94723A>G (p.Ser31575Gly)
c.89800A>G (p.Ser29934Gly)
n.446+23069T>C
n.2043+4344T>C
c.93820A>G (p.Ser31274Gly)
c.67714A>G (p.Ser22572Gly)
c.67573A>G (p.Ser22525Gly)
c.93616A>G (p.Ser31206Gly)
c.89014A>G (p.Ser29672Gly)
c.89011A>G (p.Ser29671Gly)
c.86053A>G (p.Ser28685Gly)
c.67669A>G (p.Ser22557Gly)
c.89164A>G (p.Ser29722Gly)
c.89161A>G (p.Ser29721Gly)
c.88594A>G (p.Ser29532Gly)
c.85936A>G (p.Ser28646Gly)
c.85855A>G (p.Ser28619Gly)
c.67618A>G (p.Ser22540Gly)
c.57472A>G (p.Ser19158Gly)
2g.178546705T>GCA349470970TTN,TTN-AS1c.87019A>C (p.Ser29007Arg)
c.68104A>C (p.Ser22702Arg)
c.67903A>C (p.Ser22635Arg)
c.67528A>C (p.Ser22510Arg)
c.94723A>C (p.Ser31575Arg)
c.89800A>C (p.Ser29934Arg)
n.446+23069T>G
n.2043+4344T>G
c.93820A>C (p.Ser31274Arg)
c.67714A>C (p.Ser22572Arg)
c.67573A>C (p.Ser22525Arg)
c.93616A>C (p.Ser31206Arg)
c.89014A>C (p.Ser29672Arg)
c.89011A>C (p.Ser29671Arg)
c.86053A>C (p.Ser28685Arg)
c.67669A>C (p.Ser22557Arg)
c.89164A>C (p.Ser29722Arg)
c.89161A>C (p.Ser29721Arg)
c.88594A>C (p.Ser29532Arg)
c.85936A>C (p.Ser28646Arg)
c.85855A>C (p.Ser28619Arg)
c.67618A>C (p.Ser22540Arg)
c.57472A>C (p.Ser19158Arg)
2g.178546706G>ACA430242421TTN,TTN-AS1c.87018C>T (p.Leu29006=)
c.68103C>T (p.Leu22701=)
c.67902C>T (p.Leu22634=)
c.67527C>T (p.Leu22509=)
c.94722C>T (p.Leu31574=)
c.89799C>T (p.Leu29933=)
n.446+23070G>A
n.2043+4345G>A
c.93819C>T (p.Leu31273=)
c.67713C>T (p.Leu22571=)
c.67572C>T (p.Leu22524=)
c.93615C>T (p.Leu31205=)
c.89013C>T (p.Leu29671=)
c.89010C>T (p.Leu29670=)
c.86052C>T (p.Leu28684=)
c.67668C>T (p.Leu22556=)
c.89163C>T (p.Leu29721=)
c.89160C>T (p.Leu29720=)
c.88593C>T (p.Leu29531=)
c.85935C>T (p.Leu28645=)
c.85854C>T (p.Leu28618=)
c.67617C>T (p.Leu22539=)
c.57471C>T (p.Leu19157=)
 gnomAD v4
2g.178546706G>CCA430242422TTN,TTN-AS1c.87018C>G (p.Leu29006=)
c.68103C>G (p.Leu22701=)
c.67902C>G (p.Leu22634=)
c.67527C>G (p.Leu22509=)
c.94722C>G (p.Leu31574=)
c.89799C>G (p.Leu29933=)
n.446+23070G>C
n.2043+4345G>C
c.93819C>G (p.Leu31273=)
c.67713C>G (p.Leu22571=)
c.67572C>G (p.Leu22524=)
c.93615C>G (p.Leu31205=)
c.89013C>G (p.Leu29671=)
c.89010C>G (p.Leu29670=)
c.86052C>G (p.Leu28684=)
c.67668C>G (p.Leu22556=)
c.89163C>G (p.Leu29721=)
c.89160C>G (p.Leu29720=)
c.88593C>G (p.Leu29531=)
c.85935C>G (p.Leu28645=)
c.85854C>G (p.Leu28618=)
c.67617C>G (p.Leu22539=)
c.57471C>G (p.Leu19157=)
2g.178546706G>TCA430242423TTN,TTN-AS1c.87018C>A (p.Leu29006=)
c.68103C>A (p.Leu22701=)
c.67902C>A (p.Leu22634=)
c.67527C>A (p.Leu22509=)
c.94722C>A (p.Leu31574=)
c.89799C>A (p.Leu29933=)
n.446+23070G>T
n.2043+4345G>T
c.93819C>A (p.Leu31273=)
c.67713C>A (p.Leu22571=)
c.67572C>A (p.Leu22524=)
c.93615C>A (p.Leu31205=)
c.89013C>A (p.Leu29671=)
c.89010C>A (p.Leu29670=)
c.86052C>A (p.Leu28684=)
c.67668C>A (p.Leu22556=)
c.89163C>A (p.Leu29721=)
c.89160C>A (p.Leu29720=)
c.88593C>A (p.Leu29531=)
c.85935C>A (p.Leu28645=)
c.85854C>A (p.Leu28618=)
c.67617C>A (p.Leu22539=)
c.57471C>A (p.Leu19157=)
2g.178546709_178546710delCA2586965314TTN,TTN-AS1c.87017_87018del (p.Leu29006GlnfsTer2)
c.68102_68103del (p.Leu22701GlnfsTer2)
c.67901_67902del (p.Leu22634GlnfsTer2)
c.67526_67527del (p.Leu22509GlnfsTer2)
c.94721_94722del (p.Leu31574GlnfsTer2)
c.89798_89799del (p.Leu29933GlnfsTer2)
n.446+23073_446+23074del
n.2043+4348_2043+4349del
c.93818_93819del (p.Leu31273GlnfsTer2)
c.67712_67713del (p.Leu22571GlnfsTer2)
c.67571_67572del (p.Leu22524GlnfsTer2)
c.93614_93615del (p.Leu31205GlnfsTer2)
c.89012_89013del (p.Leu29671GlnfsTer2)
c.89009_89010del (p.Leu29670GlnfsTer2)
c.86051_86052del (p.Leu28684GlnfsTer2)
c.67667_67668del (p.Leu22556GlnfsTer2)
c.89162_89163del (p.Leu29721GlnfsTer2)
c.89159_89160del (p.Leu29720GlnfsTer2)
c.88592_88593del (p.Leu29531GlnfsTer2)
c.85934_85935del (p.Leu28645GlnfsTer2)
c.85853_85854del (p.Leu28618GlnfsTer2)
c.67616_67617del (p.Leu22539GlnfsTer2)
c.57470_57471del (p.Leu19157GlnfsTer2)
2g.178546707A>CCA349470987TTN,TTN-AS1c.87017T>G (p.Leu29006Arg)
c.68102T>G (p.Leu22701Arg)
c.67901T>G (p.Leu22634Arg)
c.67526T>G (p.Leu22509Arg)
c.94721T>G (p.Leu31574Arg)
c.89798T>G (p.Leu29933Arg)
n.446+23071A>C
n.2043+4346A>C
c.93818T>G (p.Leu31273Arg)
c.67712T>G (p.Leu22571Arg)
c.67571T>G (p.Leu22524Arg)
c.93614T>G (p.Leu31205Arg)
c.89012T>G (p.Leu29671Arg)
c.89009T>G (p.Leu29670Arg)
c.86051T>G (p.Leu28684Arg)
c.67667T>G (p.Leu22556Arg)
c.89162T>G (p.Leu29721Arg)
c.89159T>G (p.Leu29720Arg)
c.88592T>G (p.Leu29531Arg)
c.85934T>G (p.Leu28645Arg)
c.85853T>G (p.Leu28618Arg)
c.67616T>G (p.Leu22539Arg)
c.57470T>G (p.Leu19157Arg)
2g.178546707A>GCA349470990TTN,TTN-AS1c.87017T>C (p.Leu29006Pro)
c.68102T>C (p.Leu22701Pro)
c.67901T>C (p.Leu22634Pro)
c.67526T>C (p.Leu22509Pro)
c.94721T>C (p.Leu31574Pro)
c.89798T>C (p.Leu29933Pro)
n.446+23071A>G
n.2043+4346A>G
c.93818T>C (p.Leu31273Pro)
c.67712T>C (p.Leu22571Pro)
c.67571T>C (p.Leu22524Pro)
c.93614T>C (p.Leu31205Pro)
c.89012T>C (p.Leu29671Pro)
c.89009T>C (p.Leu29670Pro)
c.86051T>C (p.Leu28684Pro)
c.67667T>C (p.Leu22556Pro)
c.89162T>C (p.Leu29721Pro)
c.89159T>C (p.Leu29720Pro)
c.88592T>C (p.Leu29531Pro)
c.85934T>C (p.Leu28645Pro)
c.85853T>C (p.Leu28618Pro)
c.67616T>C (p.Leu22539Pro)
c.57470T>C (p.Leu19157Pro)
2g.178546707A>TCA349470978TTN,TTN-AS1c.87017T>A (p.Leu29006His)
c.68102T>A (p.Leu22701His)
c.67901T>A (p.Leu22634His)
c.67526T>A (p.Leu22509His)
c.94721T>A (p.Leu31574His)
c.89798T>A (p.Leu29933His)
n.446+23071A>T
n.2043+4346A>T
c.93818T>A (p.Leu31273His)
c.67712T>A (p.Leu22571His)
c.67571T>A (p.Leu22524His)
c.93614T>A (p.Leu31205His)
c.89012T>A (p.Leu29671His)
c.89009T>A (p.Leu29670His)
c.86051T>A (p.Leu28684His)
c.67667T>A (p.Leu22556His)
c.89162T>A (p.Leu29721His)
c.89159T>A (p.Leu29720His)
c.88592T>A (p.Leu29531His)
c.85934T>A (p.Leu28645His)
c.85853T>A (p.Leu28618His)
c.67616T>A (p.Leu22539His)
c.57470T>A (p.Leu19157His)
2g.178546708G>ACA1987078TTN,TTN-AS1c.87016C>T (p.Leu29006Phe)
c.68101C>T (p.Leu22701Phe)
c.67900C>T (p.Leu22634Phe)
c.67525C>T (p.Leu22509Phe)
c.94720C>T (p.Leu31574Phe)
c.89797C>T (p.Leu29933Phe)
n.446+23072G>A
n.2043+4347G>A
c.93817C>T (p.Leu31273Phe)
c.67711C>T (p.Leu22571Phe)
c.67570C>T (p.Leu22524Phe)
c.93613C>T (p.Leu31205Phe)
c.89011C>T (p.Leu29671Phe)
c.89008C>T (p.Leu29670Phe)
c.86050C>T (p.Leu28684Phe)
c.67666C>T (p.Leu22556Phe)
c.89161C>T (p.Leu29721Phe)
c.89158C>T (p.Leu29720Phe)
c.88591C>T (p.Leu29531Phe)
c.85933C>T (p.Leu28645Phe)
c.85852C>T (p.Leu28618Phe)
c.67615C>T (p.Leu22539Phe)
c.57469C>T (p.Leu19157Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546708G>CCA349471003TTN,TTN-AS1c.87016C>G (p.Leu29006Val)
c.68101C>G (p.Leu22701Val)
c.67900C>G (p.Leu22634Val)
c.67525C>G (p.Leu22509Val)
c.94720C>G (p.Leu31574Val)
c.89797C>G (p.Leu29933Val)
n.446+23072G>C
n.2043+4347G>C
c.93817C>G (p.Leu31273Val)
c.67711C>G (p.Leu22571Val)
c.67570C>G (p.Leu22524Val)
c.93613C>G (p.Leu31205Val)
c.89011C>G (p.Leu29671Val)
c.89008C>G (p.Leu29670Val)
c.86050C>G (p.Leu28684Val)
c.67666C>G (p.Leu22556Val)
c.89161C>G (p.Leu29721Val)
c.89158C>G (p.Leu29720Val)
c.88591C>G (p.Leu29531Val)
c.85933C>G (p.Leu28645Val)
c.85852C>G (p.Leu28618Val)
c.67615C>G (p.Leu22539Val)
c.57469C>G (p.Leu19157Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546708G=CA1310523342TTN,TTN-AS1c.87016C= (p.Leu29006=)
c.68101C= (p.Leu22701=)
c.67900C= (p.Leu22634=)
c.67525C= (p.Leu22509=)
c.94720C= (p.Leu31574=)
c.89797C= (p.Leu29933=)
n.446+23072G=
n.2043+4347G=
c.93817C= (p.Leu31273=)
c.67711C= (p.Leu22571=)
c.67570C= (p.Leu22524=)
c.93613C= (p.Leu31205=)
c.89011C= (p.Leu29671=)
c.89008C= (p.Leu29670=)
c.86050C= (p.Leu28684=)
c.67666C= (p.Leu22556=)
c.89161C= (p.Leu29721=)
c.89158C= (p.Leu29720=)
c.88591C= (p.Leu29531=)
c.85933C= (p.Leu28645=)
c.85852C= (p.Leu28618=)
c.67615C= (p.Leu22539=)
c.57469C= (p.Leu19157=)
2g.178546708G>TCA349471004TTN,TTN-AS1c.87016C>A (p.Leu29006Ile)
c.68101C>A (p.Leu22701Ile)
c.67900C>A (p.Leu22634Ile)
c.67525C>A (p.Leu22509Ile)
c.94720C>A (p.Leu31574Ile)
c.89797C>A (p.Leu29933Ile)
n.446+23072G>T
n.2043+4347G>T
c.93817C>A (p.Leu31273Ile)
c.67711C>A (p.Leu22571Ile)
c.67570C>A (p.Leu22524Ile)
c.93613C>A (p.Leu31205Ile)
c.89011C>A (p.Leu29671Ile)
c.89008C>A (p.Leu29670Ile)
c.86050C>A (p.Leu28684Ile)
c.67666C>A (p.Leu22556Ile)
c.89161C>A (p.Leu29721Ile)
c.89158C>A (p.Leu29720Ile)
c.88591C>A (p.Leu29531Ile)
c.85933C>A (p.Leu28645Ile)
c.85852C>A (p.Leu28618Ile)
c.67615C>A (p.Leu22539Ile)
c.57469C>A (p.Leu19157Ile)
2g.178546709A>CCA430242424TTN,TTN-AS1c.87015T>G (p.Ala29005=)
c.68100T>G (p.Ala22700=)
c.67899T>G (p.Ala22633=)
c.67524T>G (p.Ala22508=)
c.94719T>G (p.Ala31573=)
c.89796T>G (p.Ala29932=)
n.446+23073A>C
n.2043+4348A>C
c.93816T>G (p.Ala31272=)
c.67710T>G (p.Ala22570=)
c.67569T>G (p.Ala22523=)
c.93612T>G (p.Ala31204=)
c.89010T>G (p.Ala29670=)
c.89007T>G (p.Ala29669=)
c.86049T>G (p.Ala28683=)
c.67665T>G (p.Ala22555=)
c.89160T>G (p.Ala29720=)
c.89157T>G (p.Ala29719=)
c.88590T>G (p.Ala29530=)
c.85932T>G (p.Ala28644=)
c.85851T>G (p.Ala28617=)
c.67614T>G (p.Ala22538=)
c.57468T>G (p.Ala19156=)
2g.178546709A>GCA430242425TTN,TTN-AS1c.87015T>C (p.Ala29005=)
c.68100T>C (p.Ala22700=)
c.67899T>C (p.Ala22633=)
c.67524T>C (p.Ala22508=)
c.94719T>C (p.Ala31573=)
c.89796T>C (p.Ala29932=)
n.446+23073A>G
n.2043+4348A>G
c.93816T>C (p.Ala31272=)
c.67710T>C (p.Ala22570=)
c.67569T>C (p.Ala22523=)
c.93612T>C (p.Ala31204=)
c.89010T>C (p.Ala29670=)
c.89007T>C (p.Ala29669=)
c.86049T>C (p.Ala28683=)
c.67665T>C (p.Ala22555=)
c.89160T>C (p.Ala29720=)
c.89157T>C (p.Ala29719=)
c.88590T>C (p.Ala29530=)
c.85932T>C (p.Ala28644=)
c.85851T>C (p.Ala28617=)
c.67614T>C (p.Ala22538=)
c.57468T>C (p.Ala19156=)
2g.178546709A>TCA430242426TTN,TTN-AS1c.87015T>A (p.Ala29005=)
c.68100T>A (p.Ala22700=)
c.67899T>A (p.Ala22633=)
c.67524T>A (p.Ala22508=)
c.94719T>A (p.Ala31573=)
c.89796T>A (p.Ala29932=)
n.446+23073A>T
n.2043+4348A>T
c.93816T>A (p.Ala31272=)
c.67710T>A (p.Ala22570=)
c.67569T>A (p.Ala22523=)
c.93612T>A (p.Ala31204=)
c.89010T>A (p.Ala29670=)
c.89007T>A (p.Ala29669=)
c.86049T>A (p.Ala28683=)
c.67665T>A (p.Ala22555=)
c.89160T>A (p.Ala29720=)
c.89157T>A (p.Ala29719=)
c.88590T>A (p.Ala29530=)
c.85932T>A (p.Ala28644=)
c.85851T>A (p.Ala28617=)
c.67614T>A (p.Ala22538=)
c.57468T>A (p.Ala19156=)
2g.178546710G>ACA349471008TTN,TTN-AS1c.87014C>T (p.Ala29005Val)
c.68099C>T (p.Ala22700Val)
c.67898C>T (p.Ala22633Val)
c.67523C>T (p.Ala22508Val)
c.94718C>T (p.Ala31573Val)
c.89795C>T (p.Ala29932Val)
n.446+23074G>A
n.2043+4349G>A
c.93815C>T (p.Ala31272Val)
c.67709C>T (p.Ala22570Val)
c.67568C>T (p.Ala22523Val)
c.93611C>T (p.Ala31204Val)
c.89009C>T (p.Ala29670Val)
c.89006C>T (p.Ala29669Val)
c.86048C>T (p.Ala28683Val)
c.67664C>T (p.Ala22555Val)
c.89159C>T (p.Ala29720Val)
c.89156C>T (p.Ala29719Val)
c.88589C>T (p.Ala29530Val)
c.85931C>T (p.Ala28644Val)
c.85850C>T (p.Ala28617Val)
c.67613C>T (p.Ala22538Val)
c.57467C>T (p.Ala19156Val)
2g.178546710G>CCA349471016TTN,TTN-AS1c.87014C>G (p.Ala29005Gly)
c.68099C>G (p.Ala22700Gly)
c.67898C>G (p.Ala22633Gly)
c.67523C>G (p.Ala22508Gly)
c.94718C>G (p.Ala31573Gly)
c.89795C>G (p.Ala29932Gly)
n.446+23074G>C
n.2043+4349G>C
c.93815C>G (p.Ala31272Gly)
c.67709C>G (p.Ala22570Gly)
c.67568C>G (p.Ala22523Gly)
c.93611C>G (p.Ala31204Gly)
c.89009C>G (p.Ala29670Gly)
c.89006C>G (p.Ala29669Gly)
c.86048C>G (p.Ala28683Gly)
c.67664C>G (p.Ala22555Gly)
c.89159C>G (p.Ala29720Gly)
c.89156C>G (p.Ala29719Gly)
c.88589C>G (p.Ala29530Gly)
c.85931C>G (p.Ala28644Gly)
c.85850C>G (p.Ala28617Gly)
c.67613C>G (p.Ala22538Gly)
c.57467C>G (p.Ala19156Gly)
2g.178546710G>TCA349471019TTN,TTN-AS1c.87014C>A (p.Ala29005Asp)
c.68099C>A (p.Ala22700Asp)
c.67898C>A (p.Ala22633Asp)
c.67523C>A (p.Ala22508Asp)
c.94718C>A (p.Ala31573Asp)
c.89795C>A (p.Ala29932Asp)
n.446+23074G>T
n.2043+4349G>T
c.93815C>A (p.Ala31272Asp)
c.67709C>A (p.Ala22570Asp)
c.67568C>A (p.Ala22523Asp)
c.93611C>A (p.Ala31204Asp)
c.89009C>A (p.Ala29670Asp)
c.89006C>A (p.Ala29669Asp)
c.86048C>A (p.Ala28683Asp)
c.67664C>A (p.Ala22555Asp)
c.89159C>A (p.Ala29720Asp)
c.89156C>A (p.Ala29719Asp)
c.88589C>A (p.Ala29530Asp)
c.85931C>A (p.Ala28644Asp)
c.85850C>A (p.Ala28617Asp)
c.67613C>A (p.Ala22538Asp)
c.57467C>A (p.Ala19156Asp)
 COSMIC COSMIC COSMIC COSMIC
2g.178546711C>ACA349471023TTN,TTN-AS1c.87013G>T (p.Ala29005Ser)
c.68098G>T (p.Ala22700Ser)
c.67897G>T (p.Ala22633Ser)
c.67522G>T (p.Ala22508Ser)
c.94717G>T (p.Ala31573Ser)
c.89794G>T (p.Ala29932Ser)
n.446+23075C>A
n.2043+4350C>A
c.93814G>T (p.Ala31272Ser)
c.67708G>T (p.Ala22570Ser)
c.67567G>T (p.Ala22523Ser)
c.93610G>T (p.Ala31204Ser)
c.89008G>T (p.Ala29670Ser)
c.89005G>T (p.Ala29669Ser)
c.86047G>T (p.Ala28683Ser)
c.67663G>T (p.Ala22555Ser)
c.89158G>T (p.Ala29720Ser)
c.89155G>T (p.Ala29719Ser)
c.88588G>T (p.Ala29530Ser)
c.85930G>T (p.Ala28644Ser)
c.85849G>T (p.Ala28617Ser)
c.67612G>T (p.Ala22538Ser)
c.57466G>T (p.Ala19156Ser)
2g.178546711C=CA1310523345TTN,TTN-AS1c.87013G= (p.Ala29005=)
c.68098G= (p.Ala22700=)
c.67897G= (p.Ala22633=)
c.67522G= (p.Ala22508=)
c.94717G= (p.Ala31573=)
c.89794G= (p.Ala29932=)
n.446+23075C=
n.2043+4350C=
c.93814G= (p.Ala31272=)
c.67708G= (p.Ala22570=)
c.67567G= (p.Ala22523=)
c.93610G= (p.Ala31204=)
c.89008G= (p.Ala29670=)
c.89005G= (p.Ala29669=)
c.86047G= (p.Ala28683=)
c.67663G= (p.Ala22555=)
c.89158G= (p.Ala29720=)
c.89155G= (p.Ala29719=)
c.88588G= (p.Ala29530=)
c.85930G= (p.Ala28644=)
c.85849G= (p.Ala28617=)
c.67612G= (p.Ala22538=)
c.57466G= (p.Ala19156=)
2g.178546711C>GCA349471025TTN,TTN-AS1c.87013G>C (p.Ala29005Pro)
c.68098G>C (p.Ala22700Pro)
c.67897G>C (p.Ala22633Pro)
c.67522G>C (p.Ala22508Pro)
c.94717G>C (p.Ala31573Pro)
c.89794G>C (p.Ala29932Pro)
n.446+23075C>G
n.2043+4350C>G
c.93814G>C (p.Ala31272Pro)
c.67708G>C (p.Ala22570Pro)
c.67567G>C (p.Ala22523Pro)
c.93610G>C (p.Ala31204Pro)
c.89008G>C (p.Ala29670Pro)
c.89005G>C (p.Ala29669Pro)
c.86047G>C (p.Ala28683Pro)
c.67663G>C (p.Ala22555Pro)
c.89158G>C (p.Ala29720Pro)
c.89155G>C (p.Ala29719Pro)
c.88588G>C (p.Ala29530Pro)
c.85930G>C (p.Ala28644Pro)
c.85849G>C (p.Ala28617Pro)
c.67612G>C (p.Ala22538Pro)
c.57466G>C (p.Ala19156Pro)
2g.178546711C>TCA349471047TTN,TTN-AS1c.87013G>A (p.Ala29005Thr)
c.68098G>A (p.Ala22700Thr)
c.67897G>A (p.Ala22633Thr)
c.67522G>A (p.Ala22508Thr)
c.94717G>A (p.Ala31573Thr)
c.89794G>A (p.Ala29932Thr)
n.446+23075C>T
n.2043+4350C>T
c.93814G>A (p.Ala31272Thr)
c.67708G>A (p.Ala22570Thr)
c.67567G>A (p.Ala22523Thr)
c.93610G>A (p.Ala31204Thr)
c.89008G>A (p.Ala29670Thr)
c.89005G>A (p.Ala29669Thr)
c.86047G>A (p.Ala28683Thr)
c.67663G>A (p.Ala22555Thr)
c.89158G>A (p.Ala29720Thr)
c.89155G>A (p.Ala29719Thr)
c.88588G>A (p.Ala29530Thr)
c.85930G>A (p.Ala28644Thr)
c.85849G>A (p.Ala28617Thr)
c.67612G>A (p.Ala22538Thr)
c.57466G>A (p.Ala19156Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546712A>CCA430242427TTN,TTN-AS1c.87012T>G (p.Thr29004=)
c.68097T>G (p.Thr22699=)
c.67896T>G (p.Thr22632=)
c.67521T>G (p.Thr22507=)
c.94716T>G (p.Thr31572=)
c.89793T>G (p.Thr29931=)
n.446+23076A>C
n.2043+4351A>C
c.93813T>G (p.Thr31271=)
c.67707T>G (p.Thr22569=)
c.67566T>G (p.Thr22522=)
c.93609T>G (p.Thr31203=)
c.89007T>G (p.Thr29669=)
c.89004T>G (p.Thr29668=)
c.86046T>G (p.Thr28682=)
c.67662T>G (p.Thr22554=)
c.89157T>G (p.Thr29719=)
c.89154T>G (p.Thr29718=)
c.88587T>G (p.Thr29529=)
c.85929T>G (p.Thr28643=)
c.85848T>G (p.Thr28616=)
c.67611T>G (p.Thr22537=)
c.57465T>G (p.Thr19155=)
2g.178546712A>GCA430242428TTN,TTN-AS1c.87012T>C (p.Thr29004=)
c.68097T>C (p.Thr22699=)
c.67896T>C (p.Thr22632=)
c.67521T>C (p.Thr22507=)
c.94716T>C (p.Thr31572=)
c.89793T>C (p.Thr29931=)
n.446+23076A>G
n.2043+4351A>G
c.93813T>C (p.Thr31271=)
c.67707T>C (p.Thr22569=)
c.67566T>C (p.Thr22522=)
c.93609T>C (p.Thr31203=)
c.89007T>C (p.Thr29669=)
c.89004T>C (p.Thr29668=)
c.86046T>C (p.Thr28682=)
c.67662T>C (p.Thr22554=)
c.89157T>C (p.Thr29719=)
c.89154T>C (p.Thr29718=)
c.88587T>C (p.Thr29529=)
c.85929T>C (p.Thr28643=)
c.85848T>C (p.Thr28616=)
c.67611T>C (p.Thr22537=)
c.57465T>C (p.Thr19155=)
 gnomAD v4
2g.178546712A>TCA430242429TTN,TTN-AS1c.87012T>A (p.Thr29004=)
c.68097T>A (p.Thr22699=)
c.67896T>A (p.Thr22632=)
c.67521T>A (p.Thr22507=)
c.94716T>A (p.Thr31572=)
c.89793T>A (p.Thr29931=)
n.446+23076A>T
n.2043+4351A>T
c.93813T>A (p.Thr31271=)
c.67707T>A (p.Thr22569=)
c.67566T>A (p.Thr22522=)
c.93609T>A (p.Thr31203=)
c.89007T>A (p.Thr29669=)
c.89004T>A (p.Thr29668=)
c.86046T>A (p.Thr28682=)
c.67662T>A (p.Thr22554=)
c.89157T>A (p.Thr29719=)
c.89154T>A (p.Thr29718=)
c.88587T>A (p.Thr29529=)
c.85929T>A (p.Thr28643=)
c.85848T>A (p.Thr28616=)
c.67611T>A (p.Thr22537=)
c.57465T>A (p.Thr19155=)
2g.178546713G>ACA349471052TTN,TTN-AS1c.87011C>T (p.Thr29004Ile)
c.68096C>T (p.Thr22699Ile)
c.67895C>T (p.Thr22632Ile)
c.67520C>T (p.Thr22507Ile)
c.94715C>T (p.Thr31572Ile)
c.89792C>T (p.Thr29931Ile)
n.446+23077G>A
n.2043+4352G>A
c.93812C>T (p.Thr31271Ile)
c.67706C>T (p.Thr22569Ile)
c.67565C>T (p.Thr22522Ile)
c.93608C>T (p.Thr31203Ile)
c.89006C>T (p.Thr29669Ile)
c.89003C>T (p.Thr29668Ile)
c.86045C>T (p.Thr28682Ile)
c.67661C>T (p.Thr22554Ile)
c.89156C>T (p.Thr29719Ile)
c.89153C>T (p.Thr29718Ile)
c.88586C>T (p.Thr29529Ile)
c.85928C>T (p.Thr28643Ile)
c.85847C>T (p.Thr28616Ile)
c.67610C>T (p.Thr22537Ile)
c.57464C>T (p.Thr19155Ile)
2g.178546713G>CCA349471054TTN,TTN-AS1c.87011C>G (p.Thr29004Ser)
c.68096C>G (p.Thr22699Ser)
c.67895C>G (p.Thr22632Ser)
c.67520C>G (p.Thr22507Ser)
c.94715C>G (p.Thr31572Ser)
c.89792C>G (p.Thr29931Ser)
n.446+23077G>C
n.2043+4352G>C
c.93812C>G (p.Thr31271Ser)
c.67706C>G (p.Thr22569Ser)
c.67565C>G (p.Thr22522Ser)
c.93608C>G (p.Thr31203Ser)
c.89006C>G (p.Thr29669Ser)
c.89003C>G (p.Thr29668Ser)
c.86045C>G (p.Thr28682Ser)
c.67661C>G (p.Thr22554Ser)
c.89156C>G (p.Thr29719Ser)
c.89153C>G (p.Thr29718Ser)
c.88586C>G (p.Thr29529Ser)
c.85928C>G (p.Thr28643Ser)
c.85847C>G (p.Thr28616Ser)
c.67610C>G (p.Thr22537Ser)
c.57464C>G (p.Thr19155Ser)
2g.178546713G>TCA349471055TTN,TTN-AS1c.87011C>A (p.Thr29004Asn)
c.68096C>A (p.Thr22699Asn)
c.67895C>A (p.Thr22632Asn)
c.67520C>A (p.Thr22507Asn)
c.94715C>A (p.Thr31572Asn)
c.89792C>A (p.Thr29931Asn)
n.446+23077G>T
n.2043+4352G>T
c.93812C>A (p.Thr31271Asn)
c.67706C>A (p.Thr22569Asn)
c.67565C>A (p.Thr22522Asn)
c.93608C>A (p.Thr31203Asn)
c.89006C>A (p.Thr29669Asn)
c.89003C>A (p.Thr29668Asn)
c.86045C>A (p.Thr28682Asn)
c.67661C>A (p.Thr22554Asn)
c.89156C>A (p.Thr29719Asn)
c.89153C>A (p.Thr29718Asn)
c.88586C>A (p.Thr29529Asn)
c.85928C>A (p.Thr28643Asn)
c.85847C>A (p.Thr28616Asn)
c.67610C>A (p.Thr22537Asn)
c.57464C>A (p.Thr19155Asn)
2g.178546714T>ACA349471058TTN,TTN-AS1c.87010A>T (p.Thr29004Ser)
c.68095A>T (p.Thr22699Ser)
c.67894A>T (p.Thr22632Ser)
c.67519A>T (p.Thr22507Ser)
c.94714A>T (p.Thr31572Ser)
c.89791A>T (p.Thr29931Ser)
n.446+23078T>A
n.2043+4353T>A
c.93811A>T (p.Thr31271Ser)
c.67705A>T (p.Thr22569Ser)
c.67564A>T (p.Thr22522Ser)
c.93607A>T (p.Thr31203Ser)
c.89005A>T (p.Thr29669Ser)
c.89002A>T (p.Thr29668Ser)
c.86044A>T (p.Thr28682Ser)
c.67660A>T (p.Thr22554Ser)
c.89155A>T (p.Thr29719Ser)
c.89152A>T (p.Thr29718Ser)
c.88585A>T (p.Thr29529Ser)
c.85927A>T (p.Thr28643Ser)
c.85846A>T (p.Thr28616Ser)
c.67609A>T (p.Thr22537Ser)
c.57463A>T (p.Thr19155Ser)
2g.178546714T>CCA349471060TTN,TTN-AS1c.87010A>G (p.Thr29004Ala)
c.68095A>G (p.Thr22699Ala)
c.67894A>G (p.Thr22632Ala)
c.67519A>G (p.Thr22507Ala)
c.94714A>G (p.Thr31572Ala)
c.89791A>G (p.Thr29931Ala)
n.446+23078T>C
n.2043+4353T>C
c.93811A>G (p.Thr31271Ala)
c.67705A>G (p.Thr22569Ala)
c.67564A>G (p.Thr22522Ala)
c.93607A>G (p.Thr31203Ala)
c.89005A>G (p.Thr29669Ala)
c.89002A>G (p.Thr29668Ala)
c.86044A>G (p.Thr28682Ala)
c.67660A>G (p.Thr22554Ala)
c.89155A>G (p.Thr29719Ala)
c.89152A>G (p.Thr29718Ala)
c.88585A>G (p.Thr29529Ala)
c.85927A>G (p.Thr28643Ala)
c.85846A>G (p.Thr28616Ala)
c.67609A>G (p.Thr22537Ala)
c.57463A>G (p.Thr19155Ala)
2g.178546714T>GCA349471056TTN,TTN-AS1c.87010A>C (p.Thr29004Pro)
c.68095A>C (p.Thr22699Pro)
c.67894A>C (p.Thr22632Pro)
c.67519A>C (p.Thr22507Pro)
c.94714A>C (p.Thr31572Pro)
c.89791A>C (p.Thr29931Pro)
n.446+23078T>G
n.2043+4353T>G
c.93811A>C (p.Thr31271Pro)
c.67705A>C (p.Thr22569Pro)
c.67564A>C (p.Thr22522Pro)
c.93607A>C (p.Thr31203Pro)
c.89005A>C (p.Thr29669Pro)
c.89002A>C (p.Thr29668Pro)
c.86044A>C (p.Thr28682Pro)
c.67660A>C (p.Thr22554Pro)
c.89155A>C (p.Thr29719Pro)
c.89152A>C (p.Thr29718Pro)
c.88585A>C (p.Thr29529Pro)
c.85927A>C (p.Thr28643Pro)
c.85846A>C (p.Thr28616Pro)
c.67609A>C (p.Thr22537Pro)
c.57463A>C (p.Thr19155Pro)
2g.178546715C>ACA430242431TTN,TTN-AS1c.87009G>T (p.Val29003=)
c.68094G>T (p.Val22698=)
c.67893G>T (p.Val22631=)
c.67518G>T (p.Val22506=)
c.94713G>T (p.Val31571=)
c.89790G>T (p.Val29930=)
n.446+23079C>A
n.2043+4354C>A
c.93810G>T (p.Val31270=)
c.67704G>T (p.Val22568=)
c.67563G>T (p.Val22521=)
c.93606G>T (p.Val31202=)
c.89004G>T (p.Val29668=)
c.89001G>T (p.Val29667=)
c.86043G>T (p.Val28681=)
c.67659G>T (p.Val22553=)
c.89154G>T (p.Val29718=)
c.89151G>T (p.Val29717=)
c.88584G>T (p.Val29528=)
c.85926G>T (p.Val28642=)
c.85845G>T (p.Val28615=)
c.67608G>T (p.Val22536=)
c.57462G>T (p.Val19154=)
2g.178546715C=CA1310523347TTN,TTN-AS1c.87009G= (p.Val29003=)
c.68094G= (p.Val22698=)
c.67893G= (p.Val22631=)
c.67518G= (p.Val22506=)
c.94713G= (p.Val31571=)
c.89790G= (p.Val29930=)
n.446+23079C=
n.2043+4354C=
c.93810G= (p.Val31270=)
c.67704G= (p.Val22568=)
c.67563G= (p.Val22521=)
c.93606G= (p.Val31202=)
c.89004G= (p.Val29668=)
c.89001G= (p.Val29667=)
c.86043G= (p.Val28681=)
c.67659G= (p.Val22553=)
c.89154G= (p.Val29718=)
c.89151G= (p.Val29717=)
c.88584G= (p.Val29528=)
c.85926G= (p.Val28642=)
c.85845G= (p.Val28615=)
c.67608G= (p.Val22536=)
c.57462G= (p.Val19154=)
2g.178546715C>GCA1987079TTN,TTN-AS1c.87009G>C (p.Val29003=)
c.68094G>C (p.Val22698=)
c.67893G>C (p.Val22631=)
c.67518G>C (p.Val22506=)
c.94713G>C (p.Val31571=)
c.89790G>C (p.Val29930=)
n.446+23079C>G
n.2043+4354C>G
c.93810G>C (p.Val31270=)
c.67704G>C (p.Val22568=)
c.67563G>C (p.Val22521=)
c.93606G>C (p.Val31202=)
c.89004G>C (p.Val29668=)
c.89001G>C (p.Val29667=)
c.86043G>C (p.Val28681=)
c.67659G>C (p.Val22553=)
c.89154G>C (p.Val29718=)
c.89151G>C (p.Val29717=)
c.88584G>C (p.Val29528=)
c.85926G>C (p.Val28642=)
c.85845G>C (p.Val28615=)
c.67608G>C (p.Val22536=)
c.57462G>C (p.Val19154=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546715C>TCA430242430TTN,TTN-AS1c.87009G>A (p.Val29003=)
c.68094G>A (p.Val22698=)
c.67893G>A (p.Val22631=)
c.67518G>A (p.Val22506=)
c.94713G>A (p.Val31571=)
c.89790G>A (p.Val29930=)
n.446+23079C>T
n.2043+4354C>T
c.93810G>A (p.Val31270=)
c.67704G>A (p.Val22568=)
c.67563G>A (p.Val22521=)
c.93606G>A (p.Val31202=)
c.89004G>A (p.Val29668=)
c.89001G>A (p.Val29667=)
c.86043G>A (p.Val28681=)
c.67659G>A (p.Val22553=)
c.89154G>A (p.Val29718=)
c.89151G>A (p.Val29717=)
c.88584G>A (p.Val29528=)
c.85926G>A (p.Val28642=)
c.85845G>A (p.Val28615=)
c.67608G>A (p.Val22536=)
c.57462G>A (p.Val19154=)
2g.178546716A>CCA349471072TTN,TTN-AS1c.87008T>G (p.Val29003Gly)
c.68093T>G (p.Val22698Gly)
c.67892T>G (p.Val22631Gly)
c.67517T>G (p.Val22506Gly)
c.94712T>G (p.Val31571Gly)
c.89789T>G (p.Val29930Gly)
n.446+23080A>C
n.2043+4355A>C
c.93809T>G (p.Val31270Gly)
c.67703T>G (p.Val22568Gly)
c.67562T>G (p.Val22521Gly)
c.93605T>G (p.Val31202Gly)
c.89003T>G (p.Val29668Gly)
c.89000T>G (p.Val29667Gly)
c.86042T>G (p.Val28681Gly)
c.67658T>G (p.Val22553Gly)
c.89153T>G (p.Val29718Gly)
c.89150T>G (p.Val29717Gly)
c.88583T>G (p.Val29528Gly)
c.85925T>G (p.Val28642Gly)
c.85844T>G (p.Val28615Gly)
c.67607T>G (p.Val22536Gly)
c.57461T>G (p.Val19154Gly)
2g.178546716A>GCA349471075TTN,TTN-AS1c.87008T>C (p.Val29003Ala)
c.68093T>C (p.Val22698Ala)
c.67892T>C (p.Val22631Ala)
c.67517T>C (p.Val22506Ala)
c.94712T>C (p.Val31571Ala)
c.89789T>C (p.Val29930Ala)
n.446+23080A>G
n.2043+4355A>G
c.93809T>C (p.Val31270Ala)
c.67703T>C (p.Val22568Ala)
c.67562T>C (p.Val22521Ala)
c.93605T>C (p.Val31202Ala)
c.89003T>C (p.Val29668Ala)
c.89000T>C (p.Val29667Ala)
c.86042T>C (p.Val28681Ala)
c.67658T>C (p.Val22553Ala)
c.89153T>C (p.Val29718Ala)
c.89150T>C (p.Val29717Ala)
c.88583T>C (p.Val29528Ala)
c.85925T>C (p.Val28642Ala)
c.85844T>C (p.Val28615Ala)
c.67607T>C (p.Val22536Ala)
c.57461T>C (p.Val19154Ala)
2g.178546716A>TCA349471079TTN,TTN-AS1c.87008T>A (p.Val29003Glu)
c.68093T>A (p.Val22698Glu)
c.67892T>A (p.Val22631Glu)
c.67517T>A (p.Val22506Glu)
c.94712T>A (p.Val31571Glu)
c.89789T>A (p.Val29930Glu)
n.446+23080A>T
n.2043+4355A>T
c.93809T>A (p.Val31270Glu)
c.67703T>A (p.Val22568Glu)
c.67562T>A (p.Val22521Glu)
c.93605T>A (p.Val31202Glu)
c.89003T>A (p.Val29668Glu)
c.89000T>A (p.Val29667Glu)
c.86042T>A (p.Val28681Glu)
c.67658T>A (p.Val22553Glu)
c.89153T>A (p.Val29718Glu)
c.89150T>A (p.Val29717Glu)
c.88583T>A (p.Val29528Glu)
c.85925T>A (p.Val28642Glu)
c.85844T>A (p.Val28615Glu)
c.67607T>A (p.Val22536Glu)
c.57461T>A (p.Val19154Glu)
2g.178546717C>ACA349471090TTN,TTN-AS1c.87007G>T (p.Val29003Leu)
c.68092G>T (p.Val22698Leu)
c.67891G>T (p.Val22631Leu)
c.67516G>T (p.Val22506Leu)
c.94711G>T (p.Val31571Leu)
c.89788G>T (p.Val29930Leu)
n.446+23081C>A
n.2043+4356C>A
c.93808G>T (p.Val31270Leu)
c.67702G>T (p.Val22568Leu)
c.67561G>T (p.Val22521Leu)
c.93604G>T (p.Val31202Leu)
c.89002G>T (p.Val29668Leu)
c.88999G>T (p.Val29667Leu)
c.86041G>T (p.Val28681Leu)
c.67657G>T (p.Val22553Leu)
c.89152G>T (p.Val29718Leu)
c.89149G>T (p.Val29717Leu)
c.88582G>T (p.Val29528Leu)
c.85924G>T (p.Val28642Leu)
c.85843G>T (p.Val28615Leu)
c.67606G>T (p.Val22536Leu)
c.57460G>T (p.Val19154Leu)
2g.178546717C=CA1310523349TTN,TTN-AS1c.87007G= (p.Val29003=)
c.68092G= (p.Val22698=)
c.67891G= (p.Val22631=)
c.67516G= (p.Val22506=)
c.94711G= (p.Val31571=)
c.89788G= (p.Val29930=)
n.446+23081C=
n.2043+4356C=
c.93808G= (p.Val31270=)
c.67702G= (p.Val22568=)
c.67561G= (p.Val22521=)
c.93604G= (p.Val31202=)
c.89002G= (p.Val29668=)
c.88999G= (p.Val29667=)
c.86041G= (p.Val28681=)
c.67657G= (p.Val22553=)
c.89152G= (p.Val29718=)
c.89149G= (p.Val29717=)
c.88582G= (p.Val29528=)
c.85924G= (p.Val28642=)
c.85843G= (p.Val28615=)
c.67606G= (p.Val22536=)
c.57460G= (p.Val19154=)
2g.178546717C>GCA349471088TTN,TTN-AS1c.87007G>C (p.Val29003Leu)
c.68092G>C (p.Val22698Leu)
c.67891G>C (p.Val22631Leu)
c.67516G>C (p.Val22506Leu)
c.94711G>C (p.Val31571Leu)
c.89788G>C (p.Val29930Leu)
n.446+23081C>G
n.2043+4356C>G
c.93808G>C (p.Val31270Leu)
c.67702G>C (p.Val22568Leu)
c.67561G>C (p.Val22521Leu)
c.93604G>C (p.Val31202Leu)
c.89002G>C (p.Val29668Leu)
c.88999G>C (p.Val29667Leu)
c.86041G>C (p.Val28681Leu)
c.67657G>C (p.Val22553Leu)
c.89152G>C (p.Val29718Leu)
c.89149G>C (p.Val29717Leu)
c.88582G>C (p.Val29528Leu)
c.85924G>C (p.Val28642Leu)
c.85843G>C (p.Val28615Leu)
c.67606G>C (p.Val22536Leu)
c.57460G>C (p.Val19154Leu)
2g.178546717C>TCA60972536TTN,TTN-AS1c.87007G>A (p.Val29003Met)
c.68092G>A (p.Val22698Met)
c.67891G>A (p.Val22631Met)
c.67516G>A (p.Val22506Met)
c.94711G>A (p.Val31571Met)
c.89788G>A (p.Val29930Met)
n.446+23081C>T
n.2043+4356C>T
c.93808G>A (p.Val31270Met)
c.67702G>A (p.Val22568Met)
c.67561G>A (p.Val22521Met)
c.93604G>A (p.Val31202Met)
c.89002G>A (p.Val29668Met)
c.88999G>A (p.Val29667Met)
c.86041G>A (p.Val28681Met)
c.67657G>A (p.Val22553Met)
c.89152G>A (p.Val29718Met)
c.89149G>A (p.Val29717Met)
c.88582G>A (p.Val29528Met)
c.85924G>A (p.Val28642Met)
c.85843G>A (p.Val28615Met)
c.67606G>A (p.Val22536Met)
c.57460G>A (p.Val19154Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546718G>ACA1987080TTN,TTN-AS1c.87006C>T (p.Thr29002=)
c.68091C>T (p.Thr22697=)
c.67890C>T (p.Thr22630=)
c.67515C>T (p.Thr22505=)
c.94710C>T (p.Thr31570=)
c.89787C>T (p.Thr29929=)
n.446+23082G>A
n.2043+4357G>A
c.93807C>T (p.Thr31269=)
c.67701C>T (p.Thr22567=)
c.67560C>T (p.Thr22520=)
c.93603C>T (p.Thr31201=)
c.89001C>T (p.Thr29667=)
c.88998C>T (p.Thr29666=)
c.86040C>T (p.Thr28680=)
c.67656C>T (p.Thr22552=)
c.89151C>T (p.Thr29717=)
c.89148C>T (p.Thr29716=)
c.88581C>T (p.Thr29527=)
c.85923C>T (p.Thr28641=)
c.85842C>T (p.Thr28614=)
c.67605C>T (p.Thr22535=)
c.57459C>T (p.Thr19153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546718G>CCA430242433TTN,TTN-AS1c.87006C>G (p.Thr29002=)
c.68091C>G (p.Thr22697=)
c.67890C>G (p.Thr22630=)
c.67515C>G (p.Thr22505=)
c.94710C>G (p.Thr31570=)
c.89787C>G (p.Thr29929=)
n.446+23082G>C
n.2043+4357G>C
c.93807C>G (p.Thr31269=)
c.67701C>G (p.Thr22567=)
c.67560C>G (p.Thr22520=)
c.93603C>G (p.Thr31201=)
c.89001C>G (p.Thr29667=)
c.88998C>G (p.Thr29666=)
c.86040C>G (p.Thr28680=)
c.67656C>G (p.Thr22552=)
c.89151C>G (p.Thr29717=)
c.89148C>G (p.Thr29716=)
c.88581C>G (p.Thr29527=)
c.85923C>G (p.Thr28641=)
c.85842C>G (p.Thr28614=)
c.67605C>G (p.Thr22535=)
c.57459C>G (p.Thr19153=)
2g.178546718G=CA1310523351TTN,TTN-AS1c.87006C= (p.Thr29002=)
c.68091C= (p.Thr22697=)
c.67890C= (p.Thr22630=)
c.67515C= (p.Thr22505=)
c.94710C= (p.Thr31570=)
c.89787C= (p.Thr29929=)
n.446+23082G=
n.2043+4357G=
c.93807C= (p.Thr31269=)
c.67701C= (p.Thr22567=)
c.67560C= (p.Thr22520=)
c.93603C= (p.Thr31201=)
c.89001C= (p.Thr29667=)
c.88998C= (p.Thr29666=)
c.86040C= (p.Thr28680=)
c.67656C= (p.Thr22552=)
c.89151C= (p.Thr29717=)
c.89148C= (p.Thr29716=)
c.88581C= (p.Thr29527=)
c.85923C= (p.Thr28641=)
c.85842C= (p.Thr28614=)
c.67605C= (p.Thr22535=)
c.57459C= (p.Thr19153=)
2g.178546718G>TCA430242432TTN,TTN-AS1c.87006C>A (p.Thr29002=)
c.68091C>A (p.Thr22697=)
c.67890C>A (p.Thr22630=)
c.67515C>A (p.Thr22505=)
c.94710C>A (p.Thr31570=)
c.89787C>A (p.Thr29929=)
n.446+23082G>T
n.2043+4357G>T
c.93807C>A (p.Thr31269=)
c.67701C>A (p.Thr22567=)
c.67560C>A (p.Thr22520=)
c.93603C>A (p.Thr31201=)
c.89001C>A (p.Thr29667=)
c.88998C>A (p.Thr29666=)
c.86040C>A (p.Thr28680=)
c.67656C>A (p.Thr22552=)
c.89151C>A (p.Thr29717=)
c.89148C>A (p.Thr29716=)
c.88581C>A (p.Thr29527=)
c.85923C>A (p.Thr28641=)
c.85842C>A (p.Thr28614=)
c.67605C>A (p.Thr22535=)
c.57459C>A (p.Thr19153=)
2g.178546719G>ACA349471097TTN,TTN-AS1c.87005C>T (p.Thr29002Ile)
c.68090C>T (p.Thr22697Ile)
c.67889C>T (p.Thr22630Ile)
c.67514C>T (p.Thr22505Ile)
c.94709C>T (p.Thr31570Ile)
c.89786C>T (p.Thr29929Ile)
n.446+23083G>A
n.2043+4358G>A
c.93806C>T (p.Thr31269Ile)
c.67700C>T (p.Thr22567Ile)
c.67559C>T (p.Thr22520Ile)
c.93602C>T (p.Thr31201Ile)
c.89000C>T (p.Thr29667Ile)
c.88997C>T (p.Thr29666Ile)
c.86039C>T (p.Thr28680Ile)
c.67655C>T (p.Thr22552Ile)
c.89150C>T (p.Thr29717Ile)
c.89147C>T (p.Thr29716Ile)
c.88580C>T (p.Thr29527Ile)
c.85922C>T (p.Thr28641Ile)
c.85841C>T (p.Thr28614Ile)
c.67604C>T (p.Thr22535Ile)
c.57458C>T (p.Thr19153Ile)
2g.178546719G>CCA349471109TTN,TTN-AS1c.87005C>G (p.Thr29002Ser)
c.68090C>G (p.Thr22697Ser)
c.67889C>G (p.Thr22630Ser)
c.67514C>G (p.Thr22505Ser)
c.94709C>G (p.Thr31570Ser)
c.89786C>G (p.Thr29929Ser)
n.446+23083G>C
n.2043+4358G>C
c.93806C>G (p.Thr31269Ser)
c.67700C>G (p.Thr22567Ser)
c.67559C>G (p.Thr22520Ser)
c.93602C>G (p.Thr31201Ser)
c.89000C>G (p.Thr29667Ser)
c.88997C>G (p.Thr29666Ser)
c.86039C>G (p.Thr28680Ser)
c.67655C>G (p.Thr22552Ser)
c.89150C>G (p.Thr29717Ser)
c.89147C>G (p.Thr29716Ser)
c.88580C>G (p.Thr29527Ser)
c.85922C>G (p.Thr28641Ser)
c.85841C>G (p.Thr28614Ser)
c.67604C>G (p.Thr22535Ser)
c.57458C>G (p.Thr19153Ser)
2g.178546719G>TCA349471112TTN,TTN-AS1c.87005C>A (p.Thr29002Asn)
c.68090C>A (p.Thr22697Asn)
c.67889C>A (p.Thr22630Asn)
c.67514C>A (p.Thr22505Asn)
c.94709C>A (p.Thr31570Asn)
c.89786C>A (p.Thr29929Asn)
n.446+23083G>T
n.2043+4358G>T
c.93806C>A (p.Thr31269Asn)
c.67700C>A (p.Thr22567Asn)
c.67559C>A (p.Thr22520Asn)
c.93602C>A (p.Thr31201Asn)
c.89000C>A (p.Thr29667Asn)
c.88997C>A (p.Thr29666Asn)
c.86039C>A (p.Thr28680Asn)
c.67655C>A (p.Thr22552Asn)
c.89150C>A (p.Thr29717Asn)
c.89147C>A (p.Thr29716Asn)
c.88580C>A (p.Thr29527Asn)
c.85922C>A (p.Thr28641Asn)
c.85841C>A (p.Thr28614Asn)
c.67604C>A (p.Thr22535Asn)
c.57458C>A (p.Thr19153Asn)
2g.178546720T>ACA349471116TTN,TTN-AS1c.87004A>T (p.Thr29002Ser)
c.68089A>T (p.Thr22697Ser)
c.67888A>T (p.Thr22630Ser)
c.67513A>T (p.Thr22505Ser)
c.94708A>T (p.Thr31570Ser)
c.89785A>T (p.Thr29929Ser)
n.446+23084T>A
n.2043+4359T>A
c.93805A>T (p.Thr31269Ser)
c.67699A>T (p.Thr22567Ser)
c.67558A>T (p.Thr22520Ser)
c.93601A>T (p.Thr31201Ser)
c.88999A>T (p.Thr29667Ser)
c.88996A>T (p.Thr29666Ser)
c.86038A>T (p.Thr28680Ser)
c.67654A>T (p.Thr22552Ser)
c.89149A>T (p.Thr29717Ser)
c.89146A>T (p.Thr29716Ser)
c.88579A>T (p.Thr29527Ser)
c.85921A>T (p.Thr28641Ser)
c.85840A>T (p.Thr28614Ser)
c.67603A>T (p.Thr22535Ser)
c.57457A>T (p.Thr19153Ser)
2g.178546720T>CCA349471118TTN,TTN-AS1c.87004A>G (p.Thr29002Ala)
c.68089A>G (p.Thr22697Ala)
c.67888A>G (p.Thr22630Ala)
c.67513A>G (p.Thr22505Ala)
c.94708A>G (p.Thr31570Ala)
c.89785A>G (p.Thr29929Ala)
n.446+23084T>C
n.2043+4359T>C
c.93805A>G (p.Thr31269Ala)
c.67699A>G (p.Thr22567Ala)
c.67558A>G (p.Thr22520Ala)
c.93601A>G (p.Thr31201Ala)
c.88999A>G (p.Thr29667Ala)
c.88996A>G (p.Thr29666Ala)
c.86038A>G (p.Thr28680Ala)
c.67654A>G (p.Thr22552Ala)
c.89149A>G (p.Thr29717Ala)
c.89146A>G (p.Thr29716Ala)
c.88579A>G (p.Thr29527Ala)
c.85921A>G (p.Thr28641Ala)
c.85840A>G (p.Thr28614Ala)
c.67603A>G (p.Thr22535Ala)
c.57457A>G (p.Thr19153Ala)
 dbSNP gnomAD v4
2g.178546720T>GCA349471121TTN,TTN-AS1c.87004A>C (p.Thr29002Pro)
c.68089A>C (p.Thr22697Pro)
c.67888A>C (p.Thr22630Pro)
c.67513A>C (p.Thr22505Pro)
c.94708A>C (p.Thr31570Pro)
c.89785A>C (p.Thr29929Pro)
n.446+23084T>G
n.2043+4359T>G
c.93805A>C (p.Thr31269Pro)
c.67699A>C (p.Thr22567Pro)
c.67558A>C (p.Thr22520Pro)
c.93601A>C (p.Thr31201Pro)
c.88999A>C (p.Thr29667Pro)
c.88996A>C (p.Thr29666Pro)
c.86038A>C (p.Thr28680Pro)
c.67654A>C (p.Thr22552Pro)
c.89149A>C (p.Thr29717Pro)
c.89146A>C (p.Thr29716Pro)
c.88579A>C (p.Thr29527Pro)
c.85921A>C (p.Thr28641Pro)
c.85840A>C (p.Thr28614Pro)
c.67603A>C (p.Thr22535Pro)
c.57457A>C (p.Thr19153Pro)
2g.178546720T=CA1310523352TTN,TTN-AS1c.87004A= (p.Thr29002=)
c.68089A= (p.Thr22697=)
c.67888A= (p.Thr22630=)
c.67513A= (p.Thr22505=)
c.94708A= (p.Thr31570=)
c.89785A= (p.Thr29929=)
n.446+23084T=
n.2043+4359T=
c.93805A= (p.Thr31269=)
c.67699A= (p.Thr22567=)
c.67558A= (p.Thr22520=)
c.93601A= (p.Thr31201=)
c.88999A= (p.Thr29667=)
c.88996A= (p.Thr29666=)
c.86038A= (p.Thr28680=)
c.67654A= (p.Thr22552=)
c.89149A= (p.Thr29717=)
c.89146A= (p.Thr29716=)
c.88579A= (p.Thr29527=)
c.85921A= (p.Thr28641=)
c.85840A= (p.Thr28614=)
c.67603A= (p.Thr22535=)
c.57457A= (p.Thr19153=)
2g.178546721G>ACA430242434TTN,TTN-AS1c.87003C>T (p.Phe29001=)
c.68088C>T (p.Phe22696=)
c.67887C>T (p.Phe22629=)
c.67512C>T (p.Phe22504=)
c.94707C>T (p.Phe31569=)
c.89784C>T (p.Phe29928=)
n.446+23085G>A
n.2043+4360G>A
c.93804C>T (p.Phe31268=)
c.67698C>T (p.Phe22566=)
c.67557C>T (p.Phe22519=)
c.93600C>T (p.Phe31200=)
c.88998C>T (p.Phe29666=)
c.88995C>T (p.Phe29665=)
c.86037C>T (p.Phe28679=)
c.67653C>T (p.Phe22551=)
c.89148C>T (p.Phe29716=)
c.89145C>T (p.Phe29715=)
c.88578C>T (p.Phe29526=)
c.85920C>T (p.Phe28640=)
c.85839C>T (p.Phe28613=)
c.67602C>T (p.Phe22534=)
c.57456C>T (p.Phe19152=)
2g.178546721G>CCA349471130TTN,TTN-AS1c.87003C>G (p.Phe29001Leu)
c.68088C>G (p.Phe22696Leu)
c.67887C>G (p.Phe22629Leu)
c.67512C>G (p.Phe22504Leu)
c.94707C>G (p.Phe31569Leu)
c.89784C>G (p.Phe29928Leu)
n.446+23085G>C
n.2043+4360G>C
c.93804C>G (p.Phe31268Leu)
c.67698C>G (p.Phe22566Leu)
c.67557C>G (p.Phe22519Leu)
c.93600C>G (p.Phe31200Leu)
c.88998C>G (p.Phe29666Leu)
c.88995C>G (p.Phe29665Leu)
c.86037C>G (p.Phe28679Leu)
c.67653C>G (p.Phe22551Leu)
c.89148C>G (p.Phe29716Leu)
c.89145C>G (p.Phe29715Leu)
c.88578C>G (p.Phe29526Leu)
c.85920C>G (p.Phe28640Leu)
c.85839C>G (p.Phe28613Leu)
c.67602C>G (p.Phe22534Leu)
c.57456C>G (p.Phe19152Leu)
2g.178546721G>TCA349471136TTN,TTN-AS1c.87003C>A (p.Phe29001Leu)
c.68088C>A (p.Phe22696Leu)
c.67887C>A (p.Phe22629Leu)
c.67512C>A (p.Phe22504Leu)
c.94707C>A (p.Phe31569Leu)
c.89784C>A (p.Phe29928Leu)
n.446+23085G>T
n.2043+4360G>T
c.93804C>A (p.Phe31268Leu)
c.67698C>A (p.Phe22566Leu)
c.67557C>A (p.Phe22519Leu)
c.93600C>A (p.Phe31200Leu)
c.88998C>A (p.Phe29666Leu)
c.88995C>A (p.Phe29665Leu)
c.86037C>A (p.Phe28679Leu)
c.67653C>A (p.Phe22551Leu)
c.89148C>A (p.Phe29716Leu)
c.89145C>A (p.Phe29715Leu)
c.88578C>A (p.Phe29526Leu)
c.85920C>A (p.Phe28640Leu)
c.85839C>A (p.Phe28613Leu)
c.67602C>A (p.Phe22534Leu)
c.57456C>A (p.Phe19152Leu)
2g.178546722A=CA1310523354TTN,TTN-AS1c.87002T= (p.Phe29001=)
c.68087T= (p.Phe22696=)
c.67886T= (p.Phe22629=)
c.67511T= (p.Phe22504=)
c.94706T= (p.Phe31569=)
c.89783T= (p.Phe29928=)
n.446+23086A=
n.2043+4361A=
c.93803T= (p.Phe31268=)
c.67697T= (p.Phe22566=)
c.67556T= (p.Phe22519=)
c.93599T= (p.Phe31200=)
c.88997T= (p.Phe29666=)
c.88994T= (p.Phe29665=)
c.86036T= (p.Phe28679=)
c.67652T= (p.Phe22551=)
c.89147T= (p.Phe29716=)
c.89144T= (p.Phe29715=)
c.88577T= (p.Phe29526=)
c.85919T= (p.Phe28640=)
c.85838T= (p.Phe28613=)
c.67601T= (p.Phe22534=)
c.57455T= (p.Phe19152=)
2g.178546722A>CCA349471139TTN,TTN-AS1c.87002T>G (p.Phe29001Cys)
c.68087T>G (p.Phe22696Cys)
c.67886T>G (p.Phe22629Cys)
c.67511T>G (p.Phe22504Cys)
c.94706T>G (p.Phe31569Cys)
c.89783T>G (p.Phe29928Cys)
n.446+23086A>C
n.2043+4361A>C
c.93803T>G (p.Phe31268Cys)
c.67697T>G (p.Phe22566Cys)
c.67556T>G (p.Phe22519Cys)
c.93599T>G (p.Phe31200Cys)
c.88997T>G (p.Phe29666Cys)
c.88994T>G (p.Phe29665Cys)
c.86036T>G (p.Phe28679Cys)
c.67652T>G (p.Phe22551Cys)
c.89147T>G (p.Phe29716Cys)
c.89144T>G (p.Phe29715Cys)
c.88577T>G (p.Phe29526Cys)
c.85919T>G (p.Phe28640Cys)
c.85838T>G (p.Phe28613Cys)
c.67601T>G (p.Phe22534Cys)
c.57455T>G (p.Phe19152Cys)
 dbSNP
2g.178546722A>GCA349471145TTN,TTN-AS1c.87002T>C (p.Phe29001Ser)
c.68087T>C (p.Phe22696Ser)
c.67886T>C (p.Phe22629Ser)
c.67511T>C (p.Phe22504Ser)
c.94706T>C (p.Phe31569Ser)
c.89783T>C (p.Phe29928Ser)
n.446+23086A>G
n.2043+4361A>G
c.93803T>C (p.Phe31268Ser)
c.67697T>C (p.Phe22566Ser)
c.67556T>C (p.Phe22519Ser)
c.93599T>C (p.Phe31200Ser)
c.88997T>C (p.Phe29666Ser)
c.88994T>C (p.Phe29665Ser)
c.86036T>C (p.Phe28679Ser)
c.67652T>C (p.Phe22551Ser)
c.89147T>C (p.Phe29716Ser)
c.89144T>C (p.Phe29715Ser)
c.88577T>C (p.Phe29526Ser)
c.85919T>C (p.Phe28640Ser)
c.85838T>C (p.Phe28613Ser)
c.67601T>C (p.Phe22534Ser)
c.57455T>C (p.Phe19152Ser)
2g.178546722A>TCA349471150TTN,TTN-AS1c.87002T>A (p.Phe29001Tyr)
c.68087T>A (p.Phe22696Tyr)
c.67886T>A (p.Phe22629Tyr)
c.67511T>A (p.Phe22504Tyr)
c.94706T>A (p.Phe31569Tyr)
c.89783T>A (p.Phe29928Tyr)
n.446+23086A>T
n.2043+4361A>T
c.93803T>A (p.Phe31268Tyr)
c.67697T>A (p.Phe22566Tyr)
c.67556T>A (p.Phe22519Tyr)
c.93599T>A (p.Phe31200Tyr)
c.88997T>A (p.Phe29666Tyr)
c.88994T>A (p.Phe29665Tyr)
c.86036T>A (p.Phe28679Tyr)
c.67652T>A (p.Phe22551Tyr)
c.89147T>A (p.Phe29716Tyr)
c.89144T>A (p.Phe29715Tyr)
c.88577T>A (p.Phe29526Tyr)
c.85919T>A (p.Phe28640Tyr)
c.85838T>A (p.Phe28613Tyr)
c.67601T>A (p.Phe22534Tyr)
c.57455T>A (p.Phe19152Tyr)
2g.178546723A>CCA349471151TTN,TTN-AS1c.87001T>G (p.Phe29001Val)
c.68086T>G (p.Phe22696Val)
c.67885T>G (p.Phe22629Val)
c.67510T>G (p.Phe22504Val)
c.94705T>G (p.Phe31569Val)
c.89782T>G (p.Phe29928Val)
n.446+23087A>C
n.2043+4362A>C
c.93802T>G (p.Phe31268Val)
c.67696T>G (p.Phe22566Val)
c.67555T>G (p.Phe22519Val)
c.93598T>G (p.Phe31200Val)
c.88996T>G (p.Phe29666Val)
c.88993T>G (p.Phe29665Val)
c.86035T>G (p.Phe28679Val)
c.67651T>G (p.Phe22551Val)
c.89146T>G (p.Phe29716Val)
c.89143T>G (p.Phe29715Val)
c.88576T>G (p.Phe29526Val)
c.85918T>G (p.Phe28640Val)
c.85837T>G (p.Phe28613Val)
c.67600T>G (p.Phe22534Val)
c.57454T>G (p.Phe19152Val)
2g.178546723A>GCA349471152TTN,TTN-AS1c.87001T>C (p.Phe29001Leu)
c.68086T>C (p.Phe22696Leu)
c.67885T>C (p.Phe22629Leu)
c.67510T>C (p.Phe22504Leu)
c.94705T>C (p.Phe31569Leu)
c.89782T>C (p.Phe29928Leu)
n.446+23087A>G
n.2043+4362A>G
c.93802T>C (p.Phe31268Leu)
c.67696T>C (p.Phe22566Leu)
c.67555T>C (p.Phe22519Leu)
c.93598T>C (p.Phe31200Leu)
c.88996T>C (p.Phe29666Leu)
c.88993T>C (p.Phe29665Leu)
c.86035T>C (p.Phe28679Leu)
c.67651T>C (p.Phe22551Leu)
c.89146T>C (p.Phe29716Leu)
c.89143T>C (p.Phe29715Leu)
c.88576T>C (p.Phe29526Leu)
c.85918T>C (p.Phe28640Leu)
c.85837T>C (p.Phe28613Leu)
c.67600T>C (p.Phe22534Leu)
c.57454T>C (p.Phe19152Leu)
 gnomAD v4
2g.178546723A>TCA349471153TTN,TTN-AS1c.87001T>A (p.Phe29001Ile)
c.68086T>A (p.Phe22696Ile)
c.67885T>A (p.Phe22629Ile)
c.67510T>A (p.Phe22504Ile)
c.94705T>A (p.Phe31569Ile)
c.89782T>A (p.Phe29928Ile)
n.446+23087A>T
n.2043+4362A>T
c.93802T>A (p.Phe31268Ile)
c.67696T>A (p.Phe22566Ile)
c.67555T>A (p.Phe22519Ile)
c.93598T>A (p.Phe31200Ile)
c.88996T>A (p.Phe29666Ile)
c.88993T>A (p.Phe29665Ile)
c.86035T>A (p.Phe28679Ile)
c.67651T>A (p.Phe22551Ile)
c.89146T>A (p.Phe29716Ile)
c.89143T>A (p.Phe29715Ile)
c.88576T>A (p.Phe29526Ile)
c.85918T>A (p.Phe28640Ile)
c.85837T>A (p.Phe28613Ile)
c.67600T>A (p.Phe22534Ile)
c.57454T>A (p.Phe19152Ile)
2g.178546724G>ACA430242435TTN,TTN-AS1c.87000C>T (p.Phe29000=)
c.68085C>T (p.Phe22695=)
c.67884C>T (p.Phe22628=)
c.67509C>T (p.Phe22503=)
c.94704C>T (p.Phe31568=)
c.89781C>T (p.Phe29927=)
n.446+23088G>A
n.2043+4363G>A
c.93801C>T (p.Phe31267=)
c.67695C>T (p.Phe22565=)
c.67554C>T (p.Phe22518=)
c.93597C>T (p.Phe31199=)
c.88995C>T (p.Phe29665=)
c.88992C>T (p.Phe29664=)
c.86034C>T (p.Phe28678=)
c.67650C>T (p.Phe22550=)
c.89145C>T (p.Phe29715=)
c.89142C>T (p.Phe29714=)
c.88575C>T (p.Phe29525=)
c.85917C>T (p.Phe28639=)
c.85836C>T (p.Phe28612=)
c.67599C>T (p.Phe22533=)
c.57453C>T (p.Phe19151=)
 gnomAD v4
2g.178546724G>CCA349471154TTN,TTN-AS1c.87000C>G (p.Phe29000Leu)
c.68085C>G (p.Phe22695Leu)
c.67884C>G (p.Phe22628Leu)
c.67509C>G (p.Phe22503Leu)
c.94704C>G (p.Phe31568Leu)
c.89781C>G (p.Phe29927Leu)
n.446+23088G>C
n.2043+4363G>C
c.93801C>G (p.Phe31267Leu)
c.67695C>G (p.Phe22565Leu)
c.67554C>G (p.Phe22518Leu)
c.93597C>G (p.Phe31199Leu)
c.88995C>G (p.Phe29665Leu)
c.88992C>G (p.Phe29664Leu)
c.86034C>G (p.Phe28678Leu)
c.67650C>G (p.Phe22550Leu)
c.89145C>G (p.Phe29715Leu)
c.89142C>G (p.Phe29714Leu)
c.88575C>G (p.Phe29525Leu)
c.85917C>G (p.Phe28639Leu)
c.85836C>G (p.Phe28612Leu)
c.67599C>G (p.Phe22533Leu)
c.57453C>G (p.Phe19151Leu)
2g.178546724G=CA1310523355TTN,TTN-AS1c.87000C= (p.Phe29000=)
c.68085C= (p.Phe22695=)
c.67884C= (p.Phe22628=)
c.67509C= (p.Phe22503=)
c.94704C= (p.Phe31568=)
c.89781C= (p.Phe29927=)
n.446+23088G=
n.2043+4363G=
c.93801C= (p.Phe31267=)
c.67695C= (p.Phe22565=)
c.67554C= (p.Phe22518=)
c.93597C= (p.Phe31199=)
c.88995C= (p.Phe29665=)
c.88992C= (p.Phe29664=)
c.86034C= (p.Phe28678=)
c.67650C= (p.Phe22550=)
c.89145C= (p.Phe29715=)
c.89142C= (p.Phe29714=)
c.88575C= (p.Phe29525=)
c.85917C= (p.Phe28639=)
c.85836C= (p.Phe28612=)
c.67599C= (p.Phe22533=)
c.57453C= (p.Phe19151=)
2g.178546724G>TCA349471157TTN,TTN-AS1c.87000C>A (p.Phe29000Leu)
c.68085C>A (p.Phe22695Leu)
c.67884C>A (p.Phe22628Leu)
c.67509C>A (p.Phe22503Leu)
c.94704C>A (p.Phe31568Leu)
c.89781C>A (p.Phe29927Leu)
n.446+23088G>T
n.2043+4363G>T
c.93801C>A (p.Phe31267Leu)
c.67695C>A (p.Phe22565Leu)
c.67554C>A (p.Phe22518Leu)
c.93597C>A (p.Phe31199Leu)
c.88995C>A (p.Phe29665Leu)
c.88992C>A (p.Phe29664Leu)
c.86034C>A (p.Phe28678Leu)
c.67650C>A (p.Phe22550Leu)
c.89145C>A (p.Phe29715Leu)
c.89142C>A (p.Phe29714Leu)
c.88575C>A (p.Phe29525Leu)
c.85917C>A (p.Phe28639Leu)
c.85836C>A (p.Phe28612Leu)
c.67599C>A (p.Phe22533Leu)
c.57453C>A (p.Phe19151Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546725A>CCA349471160TTN,TTN-AS1c.86999T>G (p.Phe29000Cys)
c.68084T>G (p.Phe22695Cys)
c.67883T>G (p.Phe22628Cys)
c.67508T>G (p.Phe22503Cys)
c.94703T>G (p.Phe31568Cys)
c.89780T>G (p.Phe29927Cys)
n.446+23089A>C
n.2043+4364A>C
c.93800T>G (p.Phe31267Cys)
c.67694T>G (p.Phe22565Cys)
c.67553T>G (p.Phe22518Cys)
c.93596T>G (p.Phe31199Cys)
c.88994T>G (p.Phe29665Cys)
c.88991T>G (p.Phe29664Cys)
c.86033T>G (p.Phe28678Cys)
c.67649T>G (p.Phe22550Cys)
c.89144T>G (p.Phe29715Cys)
c.89141T>G (p.Phe29714Cys)
c.88574T>G (p.Phe29525Cys)
c.85916T>G (p.Phe28639Cys)
c.85835T>G (p.Phe28612Cys)
c.67598T>G (p.Phe22533Cys)
c.57452T>G (p.Phe19151Cys)
2g.178546725A>GCA349471162TTN,TTN-AS1c.86999T>C (p.Phe29000Ser)
c.68084T>C (p.Phe22695Ser)
c.67883T>C (p.Phe22628Ser)
c.67508T>C (p.Phe22503Ser)
c.94703T>C (p.Phe31568Ser)
c.89780T>C (p.Phe29927Ser)
n.446+23089A>G
n.2043+4364A>G
c.93800T>C (p.Phe31267Ser)
c.67694T>C (p.Phe22565Ser)
c.67553T>C (p.Phe22518Ser)
c.93596T>C (p.Phe31199Ser)
c.88994T>C (p.Phe29665Ser)
c.88991T>C (p.Phe29664Ser)
c.86033T>C (p.Phe28678Ser)
c.67649T>C (p.Phe22550Ser)
c.89144T>C (p.Phe29715Ser)
c.89141T>C (p.Phe29714Ser)
c.88574T>C (p.Phe29525Ser)
c.85916T>C (p.Phe28639Ser)
c.85835T>C (p.Phe28612Ser)
c.67598T>C (p.Phe22533Ser)
c.57452T>C (p.Phe19151Ser)
2g.178546725A>TCA349471163TTN,TTN-AS1c.86999T>A (p.Phe29000Tyr)
c.68084T>A (p.Phe22695Tyr)
c.67883T>A (p.Phe22628Tyr)
c.67508T>A (p.Phe22503Tyr)
c.94703T>A (p.Phe31568Tyr)
c.89780T>A (p.Phe29927Tyr)
n.446+23089A>T
n.2043+4364A>T
c.93800T>A (p.Phe31267Tyr)
c.67694T>A (p.Phe22565Tyr)
c.67553T>A (p.Phe22518Tyr)
c.93596T>A (p.Phe31199Tyr)
c.88994T>A (p.Phe29665Tyr)
c.88991T>A (p.Phe29664Tyr)
c.86033T>A (p.Phe28678Tyr)
c.67649T>A (p.Phe22550Tyr)
c.89144T>A (p.Phe29715Tyr)
c.89141T>A (p.Phe29714Tyr)
c.88574T>A (p.Phe29525Tyr)
c.85916T>A (p.Phe28639Tyr)
c.85835T>A (p.Phe28612Tyr)
c.67598T>A (p.Phe22533Tyr)
c.57452T>A (p.Phe19151Tyr)
2g.178546726A>CCA349471167TTN,TTN-AS1c.86998T>G (p.Phe29000Val)
c.68083T>G (p.Phe22695Val)
c.67882T>G (p.Phe22628Val)
c.67507T>G (p.Phe22503Val)
c.94702T>G (p.Phe31568Val)
c.89779T>G (p.Phe29927Val)
n.446+23090A>C
n.2043+4365A>C
c.93799T>G (p.Phe31267Val)
c.67693T>G (p.Phe22565Val)
c.67552T>G (p.Phe22518Val)
c.93595T>G (p.Phe31199Val)
c.88993T>G (p.Phe29665Val)
c.88990T>G (p.Phe29664Val)
c.86032T>G (p.Phe28678Val)
c.67648T>G (p.Phe22550Val)
c.89143T>G (p.Phe29715Val)
c.89140T>G (p.Phe29714Val)
c.88573T>G (p.Phe29525Val)
c.85915T>G (p.Phe28639Val)
c.85834T>G (p.Phe28612Val)
c.67597T>G (p.Phe22533Val)
c.57451T>G (p.Phe19151Val)
2g.178546726A>GCA349471168TTN,TTN-AS1c.86998T>C (p.Phe29000Leu)
c.68083T>C (p.Phe22695Leu)
c.67882T>C (p.Phe22628Leu)
c.67507T>C (p.Phe22503Leu)
c.94702T>C (p.Phe31568Leu)
c.89779T>C (p.Phe29927Leu)
n.446+23090A>G
n.2043+4365A>G
c.93799T>C (p.Phe31267Leu)
c.67693T>C (p.Phe22565Leu)
c.67552T>C (p.Phe22518Leu)
c.93595T>C (p.Phe31199Leu)
c.88993T>C (p.Phe29665Leu)
c.88990T>C (p.Phe29664Leu)
c.86032T>C (p.Phe28678Leu)
c.67648T>C (p.Phe22550Leu)
c.89143T>C (p.Phe29715Leu)
c.89140T>C (p.Phe29714Leu)
c.88573T>C (p.Phe29525Leu)
c.85915T>C (p.Phe28639Leu)
c.85834T>C (p.Phe28612Leu)
c.67597T>C (p.Phe22533Leu)
c.57451T>C (p.Phe19151Leu)
2g.178546726A>TCA349471170TTN,TTN-AS1c.86998T>A (p.Phe29000Ile)
c.68083T>A (p.Phe22695Ile)
c.67882T>A (p.Phe22628Ile)
c.67507T>A (p.Phe22503Ile)
c.94702T>A (p.Phe31568Ile)
c.89779T>A (p.Phe29927Ile)
n.446+23090A>T
n.2043+4365A>T
c.93799T>A (p.Phe31267Ile)
c.67693T>A (p.Phe22565Ile)
c.67552T>A (p.Phe22518Ile)
c.93595T>A (p.Phe31199Ile)
c.88993T>A (p.Phe29665Ile)
c.88990T>A (p.Phe29664Ile)
c.86032T>A (p.Phe28678Ile)
c.67648T>A (p.Phe22550Ile)
c.89143T>A (p.Phe29715Ile)
c.89140T>A (p.Phe29714Ile)
c.88573T>A (p.Phe29525Ile)
c.85915T>A (p.Phe28639Ile)
c.85834T>A (p.Phe28612Ile)
c.67597T>A (p.Phe22533Ile)
c.57451T>A (p.Phe19151Ile)
2g.178546727A>CCA349471172TTN,TTN-AS1c.86997T>G (p.Asn28999Lys)
c.68082T>G (p.Asn22694Lys)
c.67881T>G (p.Asn22627Lys)
c.67506T>G (p.Asn22502Lys)
c.94701T>G (p.Asn31567Lys)
c.89778T>G (p.Asn29926Lys)
n.446+23091A>C
n.2043+4366A>C
c.93798T>G (p.Asn31266Lys)
c.67692T>G (p.Asn22564Lys)
c.67551T>G (p.Asn22517Lys)
c.93594T>G (p.Asn31198Lys)
c.88992T>G (p.Asn29664Lys)
c.88989T>G (p.Asn29663Lys)
c.86031T>G (p.Asn28677Lys)
c.67647T>G (p.Asn22549Lys)
c.89142T>G (p.Asn29714Lys)
c.89139T>G (p.Asn29713Lys)
c.88572T>G (p.Asn29524Lys)
c.85914T>G (p.Asn28638Lys)
c.85833T>G (p.Asn28611Lys)
c.67596T>G (p.Asn22532Lys)
c.57450T>G (p.Asn19150Lys)
2g.178546727A>GCA430242436TTN,TTN-AS1c.86997T>C (p.Asn28999=)
c.68082T>C (p.Asn22694=)
c.67881T>C (p.Asn22627=)
c.67506T>C (p.Asn22502=)
c.94701T>C (p.Asn31567=)
c.89778T>C (p.Asn29926=)
n.446+23091A>G
n.2043+4366A>G
c.93798T>C (p.Asn31266=)
c.67692T>C (p.Asn22564=)
c.67551T>C (p.Asn22517=)
c.93594T>C (p.Asn31198=)
c.88992T>C (p.Asn29664=)
c.88989T>C (p.Asn29663=)
c.86031T>C (p.Asn28677=)
c.67647T>C (p.Asn22549=)
c.89142T>C (p.Asn29714=)
c.89139T>C (p.Asn29713=)
c.88572T>C (p.Asn29524=)
c.85914T>C (p.Asn28638=)
c.85833T>C (p.Asn28611=)
c.67596T>C (p.Asn22532=)
c.57450T>C (p.Asn19150=)
 gnomAD v4
2g.178546727A>TCA349471171TTN,TTN-AS1c.86997T>A (p.Asn28999Lys)
c.68082T>A (p.Asn22694Lys)
c.67881T>A (p.Asn22627Lys)
c.67506T>A (p.Asn22502Lys)
c.94701T>A (p.Asn31567Lys)
c.89778T>A (p.Asn29926Lys)
n.446+23091A>T
n.2043+4366A>T
c.93798T>A (p.Asn31266Lys)
c.67692T>A (p.Asn22564Lys)
c.67551T>A (p.Asn22517Lys)
c.93594T>A (p.Asn31198Lys)
c.88992T>A (p.Asn29664Lys)
c.88989T>A (p.Asn29663Lys)
c.86031T>A (p.Asn28677Lys)
c.67647T>A (p.Asn22549Lys)
c.89142T>A (p.Asn29714Lys)
c.89139T>A (p.Asn29713Lys)
c.88572T>A (p.Asn29524Lys)
c.85914T>A (p.Asn28638Lys)
c.85833T>A (p.Asn28611Lys)
c.67596T>A (p.Asn22532Lys)
c.57450T>A (p.Asn19150Lys)
2g.178546728T>ACA349471174TTN,TTN-AS1c.86996A>T (p.Asn28999Ile)
c.68081A>T (p.Asn22694Ile)
c.67880A>T (p.Asn22627Ile)
c.67505A>T (p.Asn22502Ile)
c.94700A>T (p.Asn31567Ile)
c.89777A>T (p.Asn29926Ile)
n.446+23092T>A
n.2043+4367T>A
c.93797A>T (p.Asn31266Ile)
c.67691A>T (p.Asn22564Ile)
c.67550A>T (p.Asn22517Ile)
c.93593A>T (p.Asn31198Ile)
c.88991A>T (p.Asn29664Ile)
c.88988A>T (p.Asn29663Ile)
c.86030A>T (p.Asn28677Ile)
c.67646A>T (p.Asn22549Ile)
c.89141A>T (p.Asn29714Ile)
c.89138A>T (p.Asn29713Ile)
c.88571A>T (p.Asn29524Ile)
c.85913A>T (p.Asn28638Ile)
c.85832A>T (p.Asn28611Ile)
c.67595A>T (p.Asn22532Ile)
c.57449A>T (p.Asn19150Ile)
2g.178546728T>CCA10604814TTN,TTN-AS1c.86996A>G (p.Asn28999Ser)
c.68081A>G (p.Asn22694Ser)
c.67880A>G (p.Asn22627Ser)
c.67505A>G (p.Asn22502Ser)
c.94700A>G (p.Asn31567Ser)
c.89777A>G (p.Asn29926Ser)
n.446+23092T>C
n.2043+4367T>C
c.93797A>G (p.Asn31266Ser)
c.67691A>G (p.Asn22564Ser)
c.67550A>G (p.Asn22517Ser)
c.93593A>G (p.Asn31198Ser)
c.88991A>G (p.Asn29664Ser)
c.88988A>G (p.Asn29663Ser)
c.86030A>G (p.Asn28677Ser)
c.67646A>G (p.Asn22549Ser)
c.89141A>G (p.Asn29714Ser)
c.89138A>G (p.Asn29713Ser)
c.88571A>G (p.Asn29524Ser)
c.85913A>G (p.Asn28638Ser)
c.85832A>G (p.Asn28611Ser)
c.67595A>G (p.Asn22532Ser)
c.57449A>G (p.Asn19150Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546728T>GCA349471177TTN,TTN-AS1c.86996A>C (p.Asn28999Thr)
c.68081A>C (p.Asn22694Thr)
c.67880A>C (p.Asn22627Thr)
c.67505A>C (p.Asn22502Thr)
c.94700A>C (p.Asn31567Thr)
c.89777A>C (p.Asn29926Thr)
n.446+23092T>G
n.2043+4367T>G
c.93797A>C (p.Asn31266Thr)
c.67691A>C (p.Asn22564Thr)
c.67550A>C (p.Asn22517Thr)
c.93593A>C (p.Asn31198Thr)
c.88991A>C (p.Asn29664Thr)
c.88988A>C (p.Asn29663Thr)
c.86030A>C (p.Asn28677Thr)
c.67646A>C (p.Asn22549Thr)
c.89141A>C (p.Asn29714Thr)
c.89138A>C (p.Asn29713Thr)
c.88571A>C (p.Asn29524Thr)
c.85913A>C (p.Asn28638Thr)
c.85832A>C (p.Asn28611Thr)
c.67595A>C (p.Asn22532Thr)
c.57449A>C (p.Asn19150Thr)
2g.178546728T=CA1310523357TTN,TTN-AS1c.86996A= (p.Asn28999=)
c.68081A= (p.Asn22694=)
c.67880A= (p.Asn22627=)
c.67505A= (p.Asn22502=)
c.94700A= (p.Asn31567=)
c.89777A= (p.Asn29926=)
n.446+23092T=
n.2043+4367T=
c.93797A= (p.Asn31266=)
c.67691A= (p.Asn22564=)
c.67550A= (p.Asn22517=)
c.93593A= (p.Asn31198=)
c.88991A= (p.Asn29664=)
c.88988A= (p.Asn29663=)
c.86030A= (p.Asn28677=)
c.67646A= (p.Asn22549=)
c.89141A= (p.Asn29714=)
c.89138A= (p.Asn29713=)
c.88571A= (p.Asn29524=)
c.85913A= (p.Asn28638=)
c.85832A= (p.Asn28611=)
c.67595A= (p.Asn22532=)
c.57449A= (p.Asn19150=)
2g.178546729T>ACA349471178TTN,TTN-AS1c.86995A>T (p.Asn28999Tyr)
c.68080A>T (p.Asn22694Tyr)
c.67879A>T (p.Asn22627Tyr)
c.67504A>T (p.Asn22502Tyr)
c.94699A>T (p.Asn31567Tyr)
c.89776A>T (p.Asn29926Tyr)
n.446+23093T>A
n.2043+4368T>A
c.93796A>T (p.Asn31266Tyr)
c.67690A>T (p.Asn22564Tyr)
c.67549A>T (p.Asn22517Tyr)
c.93592A>T (p.Asn31198Tyr)
c.88990A>T (p.Asn29664Tyr)
c.88987A>T (p.Asn29663Tyr)
c.86029A>T (p.Asn28677Tyr)
c.67645A>T (p.Asn22549Tyr)
c.89140A>T (p.Asn29714Tyr)
c.89137A>T (p.Asn29713Tyr)
c.88570A>T (p.Asn29524Tyr)
c.85912A>T (p.Asn28638Tyr)
c.85831A>T (p.Asn28611Tyr)
c.67594A>T (p.Asn22532Tyr)
c.57448A>T (p.Asn19150Tyr)
2g.178546729T>CCA349471179TTN,TTN-AS1c.86995A>G (p.Asn28999Asp)
c.68080A>G (p.Asn22694Asp)
c.67879A>G (p.Asn22627Asp)
c.67504A>G (p.Asn22502Asp)
c.94699A>G (p.Asn31567Asp)
c.89776A>G (p.Asn29926Asp)
n.446+23093T>C
n.2043+4368T>C
c.93796A>G (p.Asn31266Asp)
c.67690A>G (p.Asn22564Asp)
c.67549A>G (p.Asn22517Asp)
c.93592A>G (p.Asn31198Asp)
c.88990A>G (p.Asn29664Asp)
c.88987A>G (p.Asn29663Asp)
c.86029A>G (p.Asn28677Asp)
c.67645A>G (p.Asn22549Asp)
c.89140A>G (p.Asn29714Asp)
c.89137A>G (p.Asn29713Asp)
c.88570A>G (p.Asn29524Asp)
c.85912A>G (p.Asn28638Asp)
c.85831A>G (p.Asn28611Asp)
c.67594A>G (p.Asn22532Asp)
c.57448A>G (p.Asn19150Asp)
 dbSNP
2g.178546729T>GCA349471183TTN,TTN-AS1c.86995A>C (p.Asn28999His)
c.68080A>C (p.Asn22694His)
c.67879A>C (p.Asn22627His)
c.67504A>C (p.Asn22502His)
c.94699A>C (p.Asn31567His)
c.89776A>C (p.Asn29926His)
n.446+23093T>G
n.2043+4368T>G
c.93796A>C (p.Asn31266His)
c.67690A>C (p.Asn22564His)
c.67549A>C (p.Asn22517His)
c.93592A>C (p.Asn31198His)
c.88990A>C (p.Asn29664His)
c.88987A>C (p.Asn29663His)
c.86029A>C (p.Asn28677His)
c.67645A>C (p.Asn22549His)
c.89140A>C (p.Asn29714His)
c.89137A>C (p.Asn29713His)
c.88570A>C (p.Asn29524His)
c.85912A>C (p.Asn28638His)
c.85831A>C (p.Asn28611His)
c.67594A>C (p.Asn22532His)
c.57448A>C (p.Asn19150His)
2g.178546729T=CA1310523358TTN,TTN-AS1c.86995A= (p.Asn28999=)
c.68080A= (p.Asn22694=)
c.67879A= (p.Asn22627=)
c.67504A= (p.Asn22502=)
c.94699A= (p.Asn31567=)
c.89776A= (p.Asn29926=)
n.446+23093T=
n.2043+4368T=
c.93796A= (p.Asn31266=)
c.67690A= (p.Asn22564=)
c.67549A= (p.Asn22517=)
c.93592A= (p.Asn31198=)
c.88990A= (p.Asn29664=)
c.88987A= (p.Asn29663=)
c.86029A= (p.Asn28677=)
c.67645A= (p.Asn22549=)
c.89140A= (p.Asn29714=)
c.89137A= (p.Asn29713=)
c.88570A= (p.Asn29524=)
c.85912A= (p.Asn28638=)
c.85831A= (p.Asn28611=)
c.67594A= (p.Asn22532=)
c.57448A= (p.Asn19150=)
2g.178546730G>ACA430242437TTN,TTN-AS1c.86994C>T (p.Asp28998=)
c.68079C>T (p.Asp22693=)
c.67878C>T (p.Asp22626=)
c.67503C>T (p.Asp22501=)
c.94698C>T (p.Asp31566=)
c.89775C>T (p.Asp29925=)
n.446+23094G>A
n.2043+4369G>A
c.93795C>T (p.Asp31265=)
c.67689C>T (p.Asp22563=)
c.67548C>T (p.Asp22516=)
c.93591C>T (p.Asp31197=)
c.88989C>T (p.Asp29663=)
c.88986C>T (p.Asp29662=)
c.86028C>T (p.Asp28676=)
c.67644C>T (p.Asp22548=)
c.89139C>T (p.Asp29713=)
c.89136C>T (p.Asp29712=)
c.88569C>T (p.Asp29523=)
c.85911C>T (p.Asp28637=)
c.85830C>T (p.Asp28610=)
c.67593C>T (p.Asp22531=)
c.57447C>T (p.Asp19149=)
 dbSNP gnomAD v4
2g.178546730G>CCA349471191TTN,TTN-AS1c.86994C>G (p.Asp28998Glu)
c.68079C>G (p.Asp22693Glu)
c.67878C>G (p.Asp22626Glu)
c.67503C>G (p.Asp22501Glu)
c.94698C>G (p.Asp31566Glu)
c.89775C>G (p.Asp29925Glu)
n.446+23094G>C
n.2043+4369G>C
c.93795C>G (p.Asp31265Glu)
c.67689C>G (p.Asp22563Glu)
c.67548C>G (p.Asp22516Glu)
c.93591C>G (p.Asp31197Glu)
c.88989C>G (p.Asp29663Glu)
c.88986C>G (p.Asp29662Glu)
c.86028C>G (p.Asp28676Glu)
c.67644C>G (p.Asp22548Glu)
c.89139C>G (p.Asp29713Glu)
c.89136C>G (p.Asp29712Glu)
c.88569C>G (p.Asp29523Glu)
c.85911C>G (p.Asp28637Glu)
c.85830C>G (p.Asp28610Glu)
c.67593C>G (p.Asp22531Glu)
c.57447C>G (p.Asp19149Glu)
2g.178546730G=CA1310523360TTN,TTN-AS1c.86994C= (p.Asp28998=)
c.68079C= (p.Asp22693=)
c.67878C= (p.Asp22626=)
c.67503C= (p.Asp22501=)
c.94698C= (p.Asp31566=)
c.89775C= (p.Asp29925=)
n.446+23094G=
n.2043+4369G=
c.93795C= (p.Asp31265=)
c.67689C= (p.Asp22563=)
c.67548C= (p.Asp22516=)
c.93591C= (p.Asp31197=)
c.88989C= (p.Asp29663=)
c.88986C= (p.Asp29662=)
c.86028C= (p.Asp28676=)
c.67644C= (p.Asp22548=)
c.89139C= (p.Asp29713=)
c.89136C= (p.Asp29712=)
c.88569C= (p.Asp29523=)
c.85911C= (p.Asp28637=)
c.85830C= (p.Asp28610=)
c.67593C= (p.Asp22531=)
c.57447C= (p.Asp19149=)
2g.178546730G>TCA1987081TTN,TTN-AS1c.86994C>A (p.Asp28998Glu)
c.68079C>A (p.Asp22693Glu)
c.67878C>A (p.Asp22626Glu)
c.67503C>A (p.Asp22501Glu)
c.94698C>A (p.Asp31566Glu)
c.89775C>A (p.Asp29925Glu)
n.446+23094G>T
n.2043+4369G>T
c.93795C>A (p.Asp31265Glu)
c.67689C>A (p.Asp22563Glu)
c.67548C>A (p.Asp22516Glu)
c.93591C>A (p.Asp31197Glu)
c.88989C>A (p.Asp29663Glu)
c.88986C>A (p.Asp29662Glu)
c.86028C>A (p.Asp28676Glu)
c.67644C>A (p.Asp22548Glu)
c.89139C>A (p.Asp29713Glu)
c.89136C>A (p.Asp29712Glu)
c.88569C>A (p.Asp29523Glu)
c.85911C>A (p.Asp28637Glu)
c.85830C>A (p.Asp28610Glu)
c.67593C>A (p.Asp22531Glu)
c.57447C>A (p.Asp19149Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546731T>ACA349471198TTN,TTN-AS1c.86993A>T (p.Asp28998Val)
c.68078A>T (p.Asp22693Val)
c.67877A>T (p.Asp22626Val)
c.67502A>T (p.Asp22501Val)
c.94697A>T (p.Asp31566Val)
c.89774A>T (p.Asp29925Val)
n.446+23095T>A
n.2043+4370T>A
c.93794A>T (p.Asp31265Val)
c.67688A>T (p.Asp22563Val)
c.67547A>T (p.Asp22516Val)
c.93590A>T (p.Asp31197Val)
c.88988A>T (p.Asp29663Val)
c.88985A>T (p.Asp29662Val)
c.86027A>T (p.Asp28676Val)
c.67643A>T (p.Asp22548Val)
c.89138A>T (p.Asp29713Val)
c.89135A>T (p.Asp29712Val)
c.88568A>T (p.Asp29523Val)
c.85910A>T (p.Asp28637Val)
c.85829A>T (p.Asp28610Val)
c.67592A>T (p.Asp22531Val)
c.57446A>T (p.Asp19149Val)
2g.178546731T>CCA349471202TTN,TTN-AS1c.86993A>G (p.Asp28998Gly)
c.68078A>G (p.Asp22693Gly)
c.67877A>G (p.Asp22626Gly)
c.67502A>G (p.Asp22501Gly)
c.94697A>G (p.Asp31566Gly)
c.89774A>G (p.Asp29925Gly)
n.446+23095T>C
n.2043+4370T>C
c.93794A>G (p.Asp31265Gly)
c.67688A>G (p.Asp22563Gly)
c.67547A>G (p.Asp22516Gly)
c.93590A>G (p.Asp31197Gly)
c.88988A>G (p.Asp29663Gly)
c.88985A>G (p.Asp29662Gly)
c.86027A>G (p.Asp28676Gly)
c.67643A>G (p.Asp22548Gly)
c.89138A>G (p.Asp29713Gly)
c.89135A>G (p.Asp29712Gly)
c.88568A>G (p.Asp29523Gly)
c.85910A>G (p.Asp28637Gly)
c.85829A>G (p.Asp28610Gly)
c.67592A>G (p.Asp22531Gly)
c.57446A>G (p.Asp19149Gly)
2g.178546731T>GCA349471207TTN,TTN-AS1c.86993A>C (p.Asp28998Ala)
c.68078A>C (p.Asp22693Ala)
c.67877A>C (p.Asp22626Ala)
c.67502A>C (p.Asp22501Ala)
c.94697A>C (p.Asp31566Ala)
c.89774A>C (p.Asp29925Ala)
n.446+23095T>G
n.2043+4370T>G
c.93794A>C (p.Asp31265Ala)
c.67688A>C (p.Asp22563Ala)
c.67547A>C (p.Asp22516Ala)
c.93590A>C (p.Asp31197Ala)
c.88988A>C (p.Asp29663Ala)
c.88985A>C (p.Asp29662Ala)
c.86027A>C (p.Asp28676Ala)
c.67643A>C (p.Asp22548Ala)
c.89138A>C (p.Asp29713Ala)
c.89135A>C (p.Asp29712Ala)
c.88568A>C (p.Asp29523Ala)
c.85910A>C (p.Asp28637Ala)
c.85829A>C (p.Asp28610Ala)
c.67592A>C (p.Asp22531Ala)
c.57446A>C (p.Asp19149Ala)
2g.178546732C>ACA349471212TTN,TTN-AS1c.86992G>T (p.Asp28998Tyr)
c.68077G>T (p.Asp22693Tyr)
c.67876G>T (p.Asp22626Tyr)
c.67501G>T (p.Asp22501Tyr)
c.94696G>T (p.Asp31566Tyr)
c.89773G>T (p.Asp29925Tyr)
n.446+23096C>A
n.2043+4371C>A
c.93793G>T (p.Asp31265Tyr)
c.67687G>T (p.Asp22563Tyr)
c.67546G>T (p.Asp22516Tyr)
c.93589G>T (p.Asp31197Tyr)
c.88987G>T (p.Asp29663Tyr)
c.88984G>T (p.Asp29662Tyr)
c.86026G>T (p.Asp28676Tyr)
c.67642G>T (p.Asp22548Tyr)
c.89137G>T (p.Asp29713Tyr)
c.89134G>T (p.Asp29712Tyr)
c.88567G>T (p.Asp29523Tyr)
c.85909G>T (p.Asp28637Tyr)
c.85828G>T (p.Asp28610Tyr)
c.67591G>T (p.Asp22531Tyr)
c.57445G>T (p.Asp19149Tyr)
2g.178546732C=CA1310523361TTN,TTN-AS1c.86992G= (p.Asp28998=)
c.68077G= (p.Asp22693=)
c.67876G= (p.Asp22626=)
c.67501G= (p.Asp22501=)
c.94696G= (p.Asp31566=)
c.89773G= (p.Asp29925=)
n.446+23096C=
n.2043+4371C=
c.93793G= (p.Asp31265=)
c.67687G= (p.Asp22563=)
c.67546G= (p.Asp22516=)
c.93589G= (p.Asp31197=)
c.88987G= (p.Asp29663=)
c.88984G= (p.Asp29662=)
c.86026G= (p.Asp28676=)
c.67642G= (p.Asp22548=)
c.89137G= (p.Asp29713=)
c.89134G= (p.Asp29712=)
c.88567G= (p.Asp29523=)
c.85909G= (p.Asp28637=)
c.85828G= (p.Asp28610=)
c.67591G= (p.Asp22531=)
c.57445G= (p.Asp19149=)
2g.178546732C>GCA349471220TTN,TTN-AS1c.86992G>C (p.Asp28998His)
c.68077G>C (p.Asp22693His)
c.67876G>C (p.Asp22626His)
c.67501G>C (p.Asp22501His)
c.94696G>C (p.Asp31566His)
c.89773G>C (p.Asp29925His)
n.446+23096C>G
n.2043+4371C>G
c.93793G>C (p.Asp31265His)
c.67687G>C (p.Asp22563His)
c.67546G>C (p.Asp22516His)
c.93589G>C (p.Asp31197His)
c.88987G>C (p.Asp29663His)
c.88984G>C (p.Asp29662His)
c.86026G>C (p.Asp28676His)
c.67642G>C (p.Asp22548His)
c.89137G>C (p.Asp29713His)
c.89134G>C (p.Asp29712His)
c.88567G>C (p.Asp29523His)
c.85909G>C (p.Asp28637His)
c.85828G>C (p.Asp28610His)
c.67591G>C (p.Asp22531His)
c.57445G>C (p.Asp19149His)
 dbSNP gnomAD v4
2g.178546732C>TCA349471222TTN,TTN-AS1c.86992G>A (p.Asp28998Asn)
c.68077G>A (p.Asp22693Asn)
c.67876G>A (p.Asp22626Asn)
c.67501G>A (p.Asp22501Asn)
c.94696G>A (p.Asp31566Asn)
c.89773G>A (p.Asp29925Asn)
n.446+23096C>T
n.2043+4371C>T
c.93793G>A (p.Asp31265Asn)
c.67687G>A (p.Asp22563Asn)
c.67546G>A (p.Asp22516Asn)
c.93589G>A (p.Asp31197Asn)
c.88987G>A (p.Asp29663Asn)
c.88984G>A (p.Asp29662Asn)
c.86026G>A (p.Asp28676Asn)
c.67642G>A (p.Asp22548Asn)
c.89137G>A (p.Asp29713Asn)
c.89134G>A (p.Asp29712Asn)
c.88567G>A (p.Asp29523Asn)
c.85909G>A (p.Asp28637Asn)
c.85828G>A (p.Asp28610Asn)
c.67591G>A (p.Asp22531Asn)
c.57445G>A (p.Asp19149Asn)
 gnomAD v4
2g.178546733A>CCA430242438TTN,TTN-AS1c.86991T>G (p.Ser28997=)
c.68076T>G (p.Ser22692=)
c.67875T>G (p.Ser22625=)
c.67500T>G (p.Ser22500=)
c.94695T>G (p.Ser31565=)
c.89772T>G (p.Ser29924=)
n.446+23097A>C
n.2043+4372A>C
c.93792T>G (p.Ser31264=)
c.67686T>G (p.Ser22562=)
c.67545T>G (p.Ser22515=)
c.93588T>G (p.Ser31196=)
c.88986T>G (p.Ser29662=)
c.88983T>G (p.Ser29661=)
c.86025T>G (p.Ser28675=)
c.67641T>G (p.Ser22547=)
c.89136T>G (p.Ser29712=)
c.89133T>G (p.Ser29711=)
c.88566T>G (p.Ser29522=)
c.85908T>G (p.Ser28636=)
c.85827T>G (p.Ser28609=)
c.67590T>G (p.Ser22530=)
c.57444T>G (p.Ser19148=)
2g.178546733A>GCA430242439TTN,TTN-AS1c.86991T>C (p.Ser28997=)
c.68076T>C (p.Ser22692=)
c.67875T>C (p.Ser22625=)
c.67500T>C (p.Ser22500=)
c.94695T>C (p.Ser31565=)
c.89772T>C (p.Ser29924=)
n.446+23097A>G
n.2043+4372A>G
c.93792T>C (p.Ser31264=)
c.67686T>C (p.Ser22562=)
c.67545T>C (p.Ser22515=)
c.93588T>C (p.Ser31196=)
c.88986T>C (p.Ser29662=)
c.88983T>C (p.Ser29661=)
c.86025T>C (p.Ser28675=)
c.67641T>C (p.Ser22547=)
c.89136T>C (p.Ser29712=)
c.89133T>C (p.Ser29711=)
c.88566T>C (p.Ser29522=)
c.85908T>C (p.Ser28636=)
c.85827T>C (p.Ser28609=)
c.67590T>C (p.Ser22530=)
c.57444T>C (p.Ser19148=)
 gnomAD v4
2g.178546733A>TCA430242440TTN,TTN-AS1c.86991T>A (p.Ser28997=)
c.68076T>A (p.Ser22692=)
c.67875T>A (p.Ser22625=)
c.67500T>A (p.Ser22500=)
c.94695T>A (p.Ser31565=)
c.89772T>A (p.Ser29924=)
n.446+23097A>T
n.2043+4372A>T
c.93792T>A (p.Ser31264=)
c.67686T>A (p.Ser22562=)
c.67545T>A (p.Ser22515=)
c.93588T>A (p.Ser31196=)
c.88986T>A (p.Ser29662=)
c.88983T>A (p.Ser29661=)
c.86025T>A (p.Ser28675=)
c.67641T>A (p.Ser22547=)
c.89136T>A (p.Ser29712=)
c.89133T>A (p.Ser29711=)
c.88566T>A (p.Ser29522=)
c.85908T>A (p.Ser28636=)
c.85827T>A (p.Ser28609=)
c.67590T>A (p.Ser22530=)
c.57444T>A (p.Ser19148=)
2g.178546734G>ACA349471230TTN,TTN-AS1c.86990C>T (p.Ser28997Phe)
c.68075C>T (p.Ser22692Phe)
c.67874C>T (p.Ser22625Phe)
c.67499C>T (p.Ser22500Phe)
c.94694C>T (p.Ser31565Phe)
c.89771C>T (p.Ser29924Phe)
n.446+23098G>A
n.2043+4373G>A
c.93791C>T (p.Ser31264Phe)
c.67685C>T (p.Ser22562Phe)
c.67544C>T (p.Ser22515Phe)
c.93587C>T (p.Ser31196Phe)
c.88985C>T (p.Ser29662Phe)
c.88982C>T (p.Ser29661Phe)
c.86024C>T (p.Ser28675Phe)
c.67640C>T (p.Ser22547Phe)
c.89135C>T (p.Ser29712Phe)
c.89132C>T (p.Ser29711Phe)
c.88565C>T (p.Ser29522Phe)
c.85907C>T (p.Ser28636Phe)
c.85826C>T (p.Ser28609Phe)
c.67589C>T (p.Ser22530Phe)
c.57443C>T (p.Ser19148Phe)
2g.178546734G>CCA349471239TTN,TTN-AS1c.86990C>G (p.Ser28997Cys)
c.68075C>G (p.Ser22692Cys)
c.67874C>G (p.Ser22625Cys)
c.67499C>G (p.Ser22500Cys)
c.94694C>G (p.Ser31565Cys)
c.89771C>G (p.Ser29924Cys)
n.446+23098G>C
n.2043+4373G>C
c.93791C>G (p.Ser31264Cys)
c.67685C>G (p.Ser22562Cys)
c.67544C>G (p.Ser22515Cys)
c.93587C>G (p.Ser31196Cys)
c.88985C>G (p.Ser29662Cys)
c.88982C>G (p.Ser29661Cys)
c.86024C>G (p.Ser28675Cys)
c.67640C>G (p.Ser22547Cys)
c.89135C>G (p.Ser29712Cys)
c.89132C>G (p.Ser29711Cys)
c.88565C>G (p.Ser29522Cys)
c.85907C>G (p.Ser28636Cys)
c.85826C>G (p.Ser28609Cys)
c.67589C>G (p.Ser22530Cys)
c.57443C>G (p.Ser19148Cys)
2g.178546734G=CA1310523363TTN,TTN-AS1c.86990C= (p.Ser28997=)
c.68075C= (p.Ser22692=)
c.67874C= (p.Ser22625=)
c.67499C= (p.Ser22500=)
c.94694C= (p.Ser31565=)
c.89771C= (p.Ser29924=)
n.446+23098G=
n.2043+4373G=
c.93791C= (p.Ser31264=)
c.67685C= (p.Ser22562=)
c.67544C= (p.Ser22515=)
c.93587C= (p.Ser31196=)
c.88985C= (p.Ser29662=)
c.88982C= (p.Ser29661=)
c.86024C= (p.Ser28675=)
c.67640C= (p.Ser22547=)
c.89135C= (p.Ser29712=)
c.89132C= (p.Ser29711=)
c.88565C= (p.Ser29522=)
c.85907C= (p.Ser28636=)
c.85826C= (p.Ser28609=)
c.67589C= (p.Ser22530=)
c.57443C= (p.Ser19148=)
2g.178546734G>TCA349471233TTN,TTN-AS1c.86990C>A (p.Ser28997Tyr)
c.68075C>A (p.Ser22692Tyr)
c.67874C>A (p.Ser22625Tyr)
c.67499C>A (p.Ser22500Tyr)
c.94694C>A (p.Ser31565Tyr)
c.89771C>A (p.Ser29924Tyr)
n.446+23098G>T
n.2043+4373G>T
c.93791C>A (p.Ser31264Tyr)
c.67685C>A (p.Ser22562Tyr)
c.67544C>A (p.Ser22515Tyr)
c.93587C>A (p.Ser31196Tyr)
c.88985C>A (p.Ser29662Tyr)
c.88982C>A (p.Ser29661Tyr)
c.86024C>A (p.Ser28675Tyr)
c.67640C>A (p.Ser22547Tyr)
c.89135C>A (p.Ser29712Tyr)
c.89132C>A (p.Ser29711Tyr)
c.88565C>A (p.Ser29522Tyr)
c.85907C>A (p.Ser28636Tyr)
c.85826C>A (p.Ser28609Tyr)
c.67589C>A (p.Ser22530Tyr)
c.57443C>A (p.Ser19148Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.178546735A>CCA349471243TTN,TTN-AS1c.86989T>G (p.Ser28997Ala)
c.68074T>G (p.Ser22692Ala)
c.67873T>G (p.Ser22625Ala)
c.67498T>G (p.Ser22500Ala)
c.94693T>G (p.Ser31565Ala)
c.89770T>G (p.Ser29924Ala)
n.446+23099A>C
n.2043+4374A>C
c.93790T>G (p.Ser31264Ala)
c.67684T>G (p.Ser22562Ala)
c.67543T>G (p.Ser22515Ala)
c.93586T>G (p.Ser31196Ala)
c.88984T>G (p.Ser29662Ala)
c.88981T>G (p.Ser29661Ala)
c.86023T>G (p.Ser28675Ala)
c.67639T>G (p.Ser22547Ala)
c.89134T>G (p.Ser29712Ala)
c.89131T>G (p.Ser29711Ala)
c.88564T>G (p.Ser29522Ala)
c.85906T>G (p.Ser28636Ala)
c.85825T>G (p.Ser28609Ala)
c.67588T>G (p.Ser22530Ala)
c.57442T>G (p.Ser19148Ala)
2g.178546735A>GCA349471244TTN,TTN-AS1c.86989T>C (p.Ser28997Pro)
c.68074T>C (p.Ser22692Pro)
c.67873T>C (p.Ser22625Pro)
c.67498T>C (p.Ser22500Pro)
c.94693T>C (p.Ser31565Pro)
c.89770T>C (p.Ser29924Pro)
n.446+23099A>G
n.2043+4374A>G
c.93790T>C (p.Ser31264Pro)
c.67684T>C (p.Ser22562Pro)
c.67543T>C (p.Ser22515Pro)
c.93586T>C (p.Ser31196Pro)
c.88984T>C (p.Ser29662Pro)
c.88981T>C (p.Ser29661Pro)
c.86023T>C (p.Ser28675Pro)
c.67639T>C (p.Ser22547Pro)
c.89134T>C (p.Ser29712Pro)
c.89131T>C (p.Ser29711Pro)
c.88564T>C (p.Ser29522Pro)
c.85906T>C (p.Ser28636Pro)
c.85825T>C (p.Ser28609Pro)
c.67588T>C (p.Ser22530Pro)
c.57442T>C (p.Ser19148Pro)
 ClinVar gnomAD v4
2g.178546735A>TCA349471245TTN,TTN-AS1c.86989T>A (p.Ser28997Thr)
c.68074T>A (p.Ser22692Thr)
c.67873T>A (p.Ser22625Thr)
c.67498T>A (p.Ser22500Thr)
c.94693T>A (p.Ser31565Thr)
c.89770T>A (p.Ser29924Thr)
n.446+23099A>T
n.2043+4374A>T
c.93790T>A (p.Ser31264Thr)
c.67684T>A (p.Ser22562Thr)
c.67543T>A (p.Ser22515Thr)
c.93586T>A (p.Ser31196Thr)
c.88984T>A (p.Ser29662Thr)
c.88981T>A (p.Ser29661Thr)
c.86023T>A (p.Ser28675Thr)
c.67639T>A (p.Ser22547Thr)
c.89134T>A (p.Ser29712Thr)
c.89131T>A (p.Ser29711Thr)
c.88564T>A (p.Ser29522Thr)
c.85906T>A (p.Ser28636Thr)
c.85825T>A (p.Ser28609Thr)
c.67588T>A (p.Ser22530Thr)
c.57442T>A (p.Ser19148Thr)
2g.178546736T>ACA430242443TTN,TTN-AS1c.86988A>T (p.Val28996=)
c.68073A>T (p.Val22691=)
c.67872A>T (p.Val22624=)
c.67497A>T (p.Val22499=)
c.94692A>T (p.Val31564=)
c.89769A>T (p.Val29923=)
n.446+23100T>A
n.2043+4375T>A
c.93789A>T (p.Val31263=)
c.67683A>T (p.Val22561=)
c.67542A>T (p.Val22514=)
c.93585A>T (p.Val31195=)
c.88983A>T (p.Val29661=)
c.88980A>T (p.Val29660=)
c.86022A>T (p.Val28674=)
c.67638A>T (p.Val22546=)
c.89133A>T (p.Val29711=)
c.89130A>T (p.Val29710=)
c.88563A>T (p.Val29521=)
c.85905A>T (p.Val28635=)
c.85824A>T (p.Val28608=)
c.67587A>T (p.Val22529=)
c.57441A>T (p.Val19147=)
2g.178546736T>CCA430242441TTN,TTN-AS1c.86988A>G (p.Val28996=)
c.68073A>G (p.Val22691=)
c.67872A>G (p.Val22624=)
c.67497A>G (p.Val22499=)
c.94692A>G (p.Val31564=)
c.89769A>G (p.Val29923=)
n.446+23100T>C
n.2043+4375T>C
c.93789A>G (p.Val31263=)
c.67683A>G (p.Val22561=)
c.67542A>G (p.Val22514=)
c.93585A>G (p.Val31195=)
c.88983A>G (p.Val29661=)
c.88980A>G (p.Val29660=)
c.86022A>G (p.Val28674=)
c.67638A>G (p.Val22546=)
c.89133A>G (p.Val29711=)
c.89130A>G (p.Val29710=)
c.88563A>G (p.Val29521=)
c.85905A>G (p.Val28635=)
c.85824A>G (p.Val28608=)
c.67587A>G (p.Val22529=)
c.57441A>G (p.Val19147=)
2g.178546736T>GCA430242442TTN,TTN-AS1c.86988A>C (p.Val28996=)
c.68073A>C (p.Val22691=)
c.67872A>C (p.Val22624=)
c.67497A>C (p.Val22499=)
c.94692A>C (p.Val31564=)
c.89769A>C (p.Val29923=)
n.446+23100T>G
n.2043+4375T>G
c.93789A>C (p.Val31263=)
c.67683A>C (p.Val22561=)
c.67542A>C (p.Val22514=)
c.93585A>C (p.Val31195=)
c.88983A>C (p.Val29661=)
c.88980A>C (p.Val29660=)
c.86022A>C (p.Val28674=)
c.67638A>C (p.Val22546=)
c.89133A>C (p.Val29711=)
c.89130A>C (p.Val29710=)
c.88563A>C (p.Val29521=)
c.85905A>C (p.Val28635=)
c.85824A>C (p.Val28608=)
c.67587A>C (p.Val22529=)
c.57441A>C (p.Val19147=)
2g.178546737A=CA1310523365TTN,TTN-AS1c.86987T= (p.Val28996=)
c.68072T= (p.Val22691=)
c.67871T= (p.Val22624=)
c.67496T= (p.Val22499=)
c.94691T= (p.Val31564=)
c.89768T= (p.Val29923=)
n.446+23101A=
n.2043+4376A=
c.93788T= (p.Val31263=)
c.67682T= (p.Val22561=)
c.67541T= (p.Val22514=)
c.93584T= (p.Val31195=)
c.88982T= (p.Val29661=)
c.88979T= (p.Val29660=)
c.86021T= (p.Val28674=)
c.67637T= (p.Val22546=)
c.89132T= (p.Val29711=)
c.89129T= (p.Val29710=)
c.88562T= (p.Val29521=)
c.85904T= (p.Val28635=)
c.85823T= (p.Val28608=)
c.67586T= (p.Val22529=)
c.57440T= (p.Val19147=)
2g.178546737A>CCA349471246TTN,TTN-AS1c.86987T>G (p.Val28996Gly)
c.68072T>G (p.Val22691Gly)
c.67871T>G (p.Val22624Gly)
c.67496T>G (p.Val22499Gly)
c.94691T>G (p.Val31564Gly)
c.89768T>G (p.Val29923Gly)
n.446+23101A>C
n.2043+4376A>C
c.93788T>G (p.Val31263Gly)
c.67682T>G (p.Val22561Gly)
c.67541T>G (p.Val22514Gly)
c.93584T>G (p.Val31195Gly)
c.88982T>G (p.Val29661Gly)
c.88979T>G (p.Val29660Gly)
c.86021T>G (p.Val28674Gly)
c.67637T>G (p.Val22546Gly)
c.89132T>G (p.Val29711Gly)
c.89129T>G (p.Val29710Gly)
c.88562T>G (p.Val29521Gly)
c.85904T>G (p.Val28635Gly)
c.85823T>G (p.Val28608Gly)
c.67586T>G (p.Val22529Gly)
c.57440T>G (p.Val19147Gly)
2g.178546737A>GCA349471247TTN,TTN-AS1c.86987T>C (p.Val28996Ala)
c.68072T>C (p.Val22691Ala)
c.67871T>C (p.Val22624Ala)
c.67496T>C (p.Val22499Ala)
c.94691T>C (p.Val31564Ala)
c.89768T>C (p.Val29923Ala)
n.446+23101A>G
n.2043+4376A>G
c.93788T>C (p.Val31263Ala)
c.67682T>C (p.Val22561Ala)
c.67541T>C (p.Val22514Ala)
c.93584T>C (p.Val31195Ala)
c.88982T>C (p.Val29661Ala)
c.88979T>C (p.Val29660Ala)
c.86021T>C (p.Val28674Ala)
c.67637T>C (p.Val22546Ala)
c.89132T>C (p.Val29711Ala)
c.89129T>C (p.Val29710Ala)
c.88562T>C (p.Val29521Ala)
c.85904T>C (p.Val28635Ala)
c.85823T>C (p.Val28608Ala)
c.67586T>C (p.Val22529Ala)
c.57440T>C (p.Val19147Ala)
 dbSNP
2g.178546737A>TCA349471250TTN,TTN-AS1c.86987T>A (p.Val28996Glu)
c.68072T>A (p.Val22691Glu)
c.67871T>A (p.Val22624Glu)
c.67496T>A (p.Val22499Glu)
c.94691T>A (p.Val31564Glu)
c.89768T>A (p.Val29923Glu)
n.446+23101A>T
n.2043+4376A>T
c.93788T>A (p.Val31263Glu)
c.67682T>A (p.Val22561Glu)
c.67541T>A (p.Val22514Glu)
c.93584T>A (p.Val31195Glu)
c.88982T>A (p.Val29661Glu)
c.88979T>A (p.Val29660Glu)
c.86021T>A (p.Val28674Glu)
c.67637T>A (p.Val22546Glu)
c.89132T>A (p.Val29711Glu)
c.89129T>A (p.Val29710Glu)
c.88562T>A (p.Val29521Glu)
c.85904T>A (p.Val28635Glu)
c.85823T>A (p.Val28608Glu)
c.67586T>A (p.Val22529Glu)
c.57440T>A (p.Val19147Glu)
2g.178546738C>ACA349471252TTN,TTN-AS1c.86986G>T (p.Val28996Leu)
c.68071G>T (p.Val22691Leu)
c.67870G>T (p.Val22624Leu)
c.67495G>T (p.Val22499Leu)
c.94690G>T (p.Val31564Leu)
c.89767G>T (p.Val29923Leu)
n.446+23102C>A
n.2043+4377C>A
c.93787G>T (p.Val31263Leu)
c.67681G>T (p.Val22561Leu)
c.67540G>T (p.Val22514Leu)
c.93583G>T (p.Val31195Leu)
c.88981G>T (p.Val29661Leu)
c.88978G>T (p.Val29660Leu)
c.86020G>T (p.Val28674Leu)
c.67636G>T (p.Val22546Leu)
c.89131G>T (p.Val29711Leu)
c.89128G>T (p.Val29710Leu)
c.88561G>T (p.Val29521Leu)
c.85903G>T (p.Val28635Leu)
c.85822G>T (p.Val28608Leu)
c.67585G>T (p.Val22529Leu)
c.57439G>T (p.Val19147Leu)
2g.178546738C=CA1310523366TTN,TTN-AS1c.86986G= (p.Val28996=)
c.68071G= (p.Val22691=)
c.67870G= (p.Val22624=)
c.67495G= (p.Val22499=)
c.94690G= (p.Val31564=)
c.89767G= (p.Val29923=)
n.446+23102C=
n.2043+4377C=
c.93787G= (p.Val31263=)
c.67681G= (p.Val22561=)
c.67540G= (p.Val22514=)
c.93583G= (p.Val31195=)
c.88981G= (p.Val29661=)
c.88978G= (p.Val29660=)
c.86020G= (p.Val28674=)
c.67636G= (p.Val22546=)
c.89131G= (p.Val29711=)
c.89128G= (p.Val29710=)
c.88561G= (p.Val29521=)
c.85903G= (p.Val28635=)
c.85822G= (p.Val28608=)
c.67585G= (p.Val22529=)
c.57439G= (p.Val19147=)
2g.178546738C>GCA349471254TTN,TTN-AS1c.86986G>C (p.Val28996Leu)
c.68071G>C (p.Val22691Leu)
c.67870G>C (p.Val22624Leu)
c.67495G>C (p.Val22499Leu)
c.94690G>C (p.Val31564Leu)
c.89767G>C (p.Val29923Leu)
n.446+23102C>G
n.2043+4377C>G
c.93787G>C (p.Val31263Leu)
c.67681G>C (p.Val22561Leu)
c.67540G>C (p.Val22514Leu)
c.93583G>C (p.Val31195Leu)
c.88981G>C (p.Val29661Leu)
c.88978G>C (p.Val29660Leu)
c.86020G>C (p.Val28674Leu)
c.67636G>C (p.Val22546Leu)
c.89131G>C (p.Val29711Leu)
c.89128G>C (p.Val29710Leu)
c.88561G>C (p.Val29521Leu)
c.85903G>C (p.Val28635Leu)
c.85822G>C (p.Val28608Leu)
c.67585G>C (p.Val22529Leu)
c.57439G>C (p.Val19147Leu)
2g.178546738C>TCA60972544TTN,TTN-AS1c.86986G>A (p.Val28996Ile)
c.68071G>A (p.Val22691Ile)
c.67870G>A (p.Val22624Ile)
c.67495G>A (p.Val22499Ile)
c.94690G>A (p.Val31564Ile)
c.89767G>A (p.Val29923Ile)
n.446+23102C>T
n.2043+4377C>T
c.93787G>A (p.Val31263Ile)
c.67681G>A (p.Val22561Ile)
c.67540G>A (p.Val22514Ile)
c.93583G>A (p.Val31195Ile)
c.88981G>A (p.Val29661Ile)
c.88978G>A (p.Val29660Ile)
c.86020G>A (p.Val28674Ile)
c.67636G>A (p.Val22546Ile)
c.89131G>A (p.Val29711Ile)
c.89128G>A (p.Val29710Ile)
c.88561G>A (p.Val29521Ile)
c.85903G>A (p.Val28635Ile)
c.85822G>A (p.Val28608Ile)
c.67585G>A (p.Val22529Ile)
c.57439G>A (p.Val19147Ile)
 dbSNP
2g.178546739A>CCA349471256TTN,TTN-AS1c.86985T>G (p.Ile28995Met)
c.68070T>G (p.Ile22690Met)
c.67869T>G (p.Ile22623Met)
c.67494T>G (p.Ile22498Met)
c.94689T>G (p.Ile31563Met)
c.89766T>G (p.Ile29922Met)
n.446+23103A>C
n.2043+4378A>C
c.93786T>G (p.Ile31262Met)
c.67680T>G (p.Ile22560Met)
c.67539T>G (p.Ile22513Met)
c.93582T>G (p.Ile31194Met)
c.88980T>G (p.Ile29660Met)
c.88977T>G (p.Ile29659Met)
c.86019T>G (p.Ile28673Met)
c.67635T>G (p.Ile22545Met)
c.89130T>G (p.Ile29710Met)
c.89127T>G (p.Ile29709Met)
c.88560T>G (p.Ile29520Met)
c.85902T>G (p.Ile28634Met)
c.85821T>G (p.Ile28607Met)
c.67584T>G (p.Ile22528Met)
c.57438T>G (p.Ile19146Met)
2g.178546739A>GCA430242444TTN,TTN-AS1c.86985T>C (p.Ile28995=)
c.68070T>C (p.Ile22690=)
c.67869T>C (p.Ile22623=)
c.67494T>C (p.Ile22498=)
c.94689T>C (p.Ile31563=)
c.89766T>C (p.Ile29922=)
n.446+23103A>G
n.2043+4378A>G
c.93786T>C (p.Ile31262=)
c.67680T>C (p.Ile22560=)
c.67539T>C (p.Ile22513=)
c.93582T>C (p.Ile31194=)
c.88980T>C (p.Ile29660=)
c.88977T>C (p.Ile29659=)
c.86019T>C (p.Ile28673=)
c.67635T>C (p.Ile22545=)
c.89130T>C (p.Ile29710=)
c.89127T>C (p.Ile29709=)
c.88560T>C (p.Ile29520=)
c.85902T>C (p.Ile28634=)
c.85821T>C (p.Ile28607=)
c.67584T>C (p.Ile22528=)
c.57438T>C (p.Ile19146=)
 ClinVar dbSNP
2g.178546739A>TCA430242445TTN,TTN-AS1c.86985T>A (p.Ile28995=)
c.68070T>A (p.Ile22690=)
c.67869T>A (p.Ile22623=)
c.67494T>A (p.Ile22498=)
c.94689T>A (p.Ile31563=)
c.89766T>A (p.Ile29922=)
n.446+23103A>T
n.2043+4378A>T
c.93786T>A (p.Ile31262=)
c.67680T>A (p.Ile22560=)
c.67539T>A (p.Ile22513=)
c.93582T>A (p.Ile31194=)
c.88980T>A (p.Ile29660=)
c.88977T>A (p.Ile29659=)
c.86019T>A (p.Ile28673=)
c.67635T>A (p.Ile22545=)
c.89130T>A (p.Ile29710=)
c.89127T>A (p.Ile29709=)
c.88560T>A (p.Ile29520=)
c.85902T>A (p.Ile28634=)
c.85821T>A (p.Ile28607=)
c.67584T>A (p.Ile22528=)
c.57438T>A (p.Ile19146=)
2g.178546740A>CCA349471259TTN,TTN-AS1c.86984T>G (p.Ile28995Ser)
c.68069T>G (p.Ile22690Ser)
c.67868T>G (p.Ile22623Ser)
c.67493T>G (p.Ile22498Ser)
c.94688T>G (p.Ile31563Ser)
c.89765T>G (p.Ile29922Ser)
n.446+23104A>C
n.2043+4379A>C
c.93785T>G (p.Ile31262Ser)
c.67679T>G (p.Ile22560Ser)
c.67538T>G (p.Ile22513Ser)
c.93581T>G (p.Ile31194Ser)
c.88979T>G (p.Ile29660Ser)
c.88976T>G (p.Ile29659Ser)
c.86018T>G (p.Ile28673Ser)
c.67634T>G (p.Ile22545Ser)
c.89129T>G (p.Ile29710Ser)
c.89126T>G (p.Ile29709Ser)
c.88559T>G (p.Ile29520Ser)
c.85901T>G (p.Ile28634Ser)
c.85820T>G (p.Ile28607Ser)
c.67583T>G (p.Ile22528Ser)
c.57437T>G (p.Ile19146Ser)
2g.178546740A>GCA349471261TTN,TTN-AS1c.86984T>C (p.Ile28995Thr)
c.68069T>C (p.Ile22690Thr)
c.67868T>C (p.Ile22623Thr)
c.67493T>C (p.Ile22498Thr)
c.94688T>C (p.Ile31563Thr)
c.89765T>C (p.Ile29922Thr)
n.446+23104A>G
n.2043+4379A>G
c.93785T>C (p.Ile31262Thr)
c.67679T>C (p.Ile22560Thr)
c.67538T>C (p.Ile22513Thr)
c.93581T>C (p.Ile31194Thr)
c.88979T>C (p.Ile29660Thr)
c.88976T>C (p.Ile29659Thr)
c.86018T>C (p.Ile28673Thr)
c.67634T>C (p.Ile22545Thr)
c.89129T>C (p.Ile29710Thr)
c.89126T>C (p.Ile29709Thr)
c.88559T>C (p.Ile29520Thr)
c.85901T>C (p.Ile28634Thr)
c.85820T>C (p.Ile28607Thr)
c.67583T>C (p.Ile22528Thr)
c.57437T>C (p.Ile19146Thr)
 gnomAD v4
2g.178546740A>TCA349471262TTN,TTN-AS1c.86984T>A (p.Ile28995Asn)
c.68069T>A (p.Ile22690Asn)
c.67868T>A (p.Ile22623Asn)
c.67493T>A (p.Ile22498Asn)
c.94688T>A (p.Ile31563Asn)
c.89765T>A (p.Ile29922Asn)
n.446+23104A>T
n.2043+4379A>T
c.93785T>A (p.Ile31262Asn)
c.67679T>A (p.Ile22560Asn)
c.67538T>A (p.Ile22513Asn)
c.93581T>A (p.Ile31194Asn)
c.88979T>A (p.Ile29660Asn)
c.88976T>A (p.Ile29659Asn)
c.86018T>A (p.Ile28673Asn)
c.67634T>A (p.Ile22545Asn)
c.89129T>A (p.Ile29710Asn)
c.89126T>A (p.Ile29709Asn)
c.88559T>A (p.Ile29520Asn)
c.85901T>A (p.Ile28634Asn)
c.85820T>A (p.Ile28607Asn)
c.67583T>A (p.Ile22528Asn)
c.57437T>A (p.Ile19146Asn)
2g.178546740_178546743delinsATGGCA1310523367TTN,TTN-AS1c.86981_86984delinsCCAT (p.Thr28994=)
c.68066_68069delinsCCAT (p.Thr22689=)
c.67865_67868delinsCCAT (p.Thr22622=)
c.67490_67493delinsCCAT (p.Thr22497=)
c.94685_94688delinsCCAT (p.Thr31562=)
c.89762_89765delinsCCAT (p.Thr29921=)
n.446+23104_446+23107delinsATGG
n.2043+4379_2043+4382delinsATGG
c.93782_93785delinsCCAT (p.Thr31261=)
c.67676_67679delinsCCAT (p.Thr22559=)
c.67535_67538delinsCCAT (p.Thr22512=)
c.93578_93581delinsCCAT (p.Thr31193=)
c.88976_88979delinsCCAT (p.Thr29659=)
c.88973_88976delinsCCAT (p.Thr29658=)
c.86015_86018delinsCCAT (p.Thr28672=)
c.67631_67634delinsCCAT (p.Thr22544=)
c.89126_89129delinsCCAT (p.Thr29709=)
c.89123_89126delinsCCAT (p.Thr29708=)
c.88556_88559delinsCCAT (p.Thr29519=)
c.85898_85901delinsCCAT (p.Thr28633=)
c.85817_85820delinsCCAT (p.Thr28606=)
c.67580_67583delinsCCAT (p.Thr22527=)
c.57434_57437delinsCCAT (p.Thr19145=)
2g.178546741T>ACA349471271TTN,TTN-AS1c.86983A>T (p.Ile28995Phe)
c.68068A>T (p.Ile22690Phe)
c.67867A>T (p.Ile22623Phe)
c.67492A>T (p.Ile22498Phe)
c.94687A>T (p.Ile31563Phe)
c.89764A>T (p.Ile29922Phe)
n.446+23105T>A
n.2043+4380T>A
c.93784A>T (p.Ile31262Phe)
c.67678A>T (p.Ile22560Phe)
c.67537A>T (p.Ile22513Phe)
c.93580A>T (p.Ile31194Phe)
c.88978A>T (p.Ile29660Phe)
c.88975A>T (p.Ile29659Phe)
c.86017A>T (p.Ile28673Phe)
c.67633A>T (p.Ile22545Phe)
c.89128A>T (p.Ile29710Phe)
c.89125A>T (p.Ile29709Phe)
c.88558A>T (p.Ile29520Phe)
c.85900A>T (p.Ile28634Phe)
c.85819A>T (p.Ile28607Phe)
c.67582A>T (p.Ile22528Phe)
c.57436A>T (p.Ile19146Phe)
2g.178546741T>CCA349471267TTN,TTN-AS1c.86983A>G (p.Ile28995Val)
c.68068A>G (p.Ile22690Val)
c.67867A>G (p.Ile22623Val)
c.67492A>G (p.Ile22498Val)
c.94687A>G (p.Ile31563Val)
c.89764A>G (p.Ile29922Val)
n.446+23105T>C
n.2043+4380T>C
c.93784A>G (p.Ile31262Val)
c.67678A>G (p.Ile22560Val)
c.67537A>G (p.Ile22513Val)
c.93580A>G (p.Ile31194Val)
c.88978A>G (p.Ile29660Val)
c.88975A>G (p.Ile29659Val)
c.86017A>G (p.Ile28673Val)
c.67633A>G (p.Ile22545Val)
c.89128A>G (p.Ile29710Val)
c.89125A>G (p.Ile29709Val)
c.88558A>G (p.Ile29520Val)
c.85900A>G (p.Ile28634Val)
c.85819A>G (p.Ile28607Val)
c.67582A>G (p.Ile22528Val)
c.57436A>G (p.Ile19146Val)
 gnomAD v4
2g.178546741T>GCA349471269TTN,TTN-AS1c.86983A>C (p.Ile28995Leu)
c.68068A>C (p.Ile22690Leu)
c.67867A>C (p.Ile22623Leu)
c.67492A>C (p.Ile22498Leu)
c.94687A>C (p.Ile31563Leu)
c.89764A>C (p.Ile29922Leu)
n.446+23105T>G
n.2043+4380T>G
c.93784A>C (p.Ile31262Leu)
c.67678A>C (p.Ile22560Leu)
c.67537A>C (p.Ile22513Leu)
c.93580A>C (p.Ile31194Leu)
c.88978A>C (p.Ile29660Leu)
c.88975A>C (p.Ile29659Leu)
c.86017A>C (p.Ile28673Leu)
c.67633A>C (p.Ile22545Leu)
c.89128A>C (p.Ile29710Leu)
c.89125A>C (p.Ile29709Leu)
c.88558A>C (p.Ile29520Leu)
c.85900A>C (p.Ile28634Leu)
c.85819A>C (p.Ile28607Leu)
c.67582A>C (p.Ile22528Leu)
c.57436A>C (p.Ile19146Leu)
2g.178546743_178546745delCA538435122TTN,TTN-AS1c.86981_86983del (p.Thr28994del)
c.68066_68068del (p.Thr22689del)
c.67865_67867del (p.Thr22622del)
c.67490_67492del (p.Thr22497del)
c.94685_94687del (p.Thr31562del)
c.89762_89764del (p.Thr29921del)
n.446+23107_446+23109del
n.2043+4382_2043+4384del
c.93782_93784del (p.Thr31261del)
c.67676_67678del (p.Thr22559del)
c.67535_67537del (p.Thr22512del)
c.93578_93580del (p.Thr31193del)
c.88976_88978del (p.Thr29659del)
c.88973_88975del (p.Thr29658del)
c.86015_86017del (p.Thr28672del)
c.67631_67633del (p.Thr22544del)
c.89126_89128del (p.Thr29709del)
c.89123_89125del (p.Thr29708del)
c.88556_88558del (p.Thr29519del)
c.85898_85900del (p.Thr28633del)
c.85817_85819del (p.Thr28606del)
c.67580_67582del (p.Thr22527del)
c.57434_57436del (p.Thr19145del)
 dbSNP gnomAD v2 gnomAD v4
2g.178546742G>ACA430242446TTN,TTN-AS1c.86982C>T (p.Thr28994=)
c.68067C>T (p.Thr22689=)
c.67866C>T (p.Thr22622=)
c.67491C>T (p.Thr22497=)
c.94686C>T (p.Thr31562=)
c.89763C>T (p.Thr29921=)
n.446+23106G>A
n.2043+4381G>A
c.93783C>T (p.Thr31261=)
c.67677C>T (p.Thr22559=)
c.67536C>T (p.Thr22512=)
c.93579C>T (p.Thr31193=)
c.88977C>T (p.Thr29659=)
c.88974C>T (p.Thr29658=)
c.86016C>T (p.Thr28672=)
c.67632C>T (p.Thr22544=)
c.89127C>T (p.Thr29709=)
c.89124C>T (p.Thr29708=)
c.88557C>T (p.Thr29519=)
c.85899C>T (p.Thr28633=)
c.85818C>T (p.Thr28606=)
c.67581C>T (p.Thr22527=)
c.57435C>T (p.Thr19145=)
2g.178546742G>CCA430242447TTN,TTN-AS1c.86982C>G (p.Thr28994=)
c.68067C>G (p.Thr22689=)
c.67866C>G (p.Thr22622=)
c.67491C>G (p.Thr22497=)
c.94686C>G (p.Thr31562=)
c.89763C>G (p.Thr29921=)
n.446+23106G>C
n.2043+4381G>C
c.93783C>G (p.Thr31261=)
c.67677C>G (p.Thr22559=)
c.67536C>G (p.Thr22512=)
c.93579C>G (p.Thr31193=)
c.88977C>G (p.Thr29659=)
c.88974C>G (p.Thr29658=)
c.86016C>G (p.Thr28672=)
c.67632C>G (p.Thr22544=)
c.89127C>G (p.Thr29709=)
c.89124C>G (p.Thr29708=)
c.88557C>G (p.Thr29519=)
c.85899C>G (p.Thr28633=)
c.85818C>G (p.Thr28606=)
c.67581C>G (p.Thr22527=)
c.57435C>G (p.Thr19145=)
2g.178546742G>TCA430242448TTN,TTN-AS1c.86982C>A (p.Thr28994=)
c.68067C>A (p.Thr22689=)
c.67866C>A (p.Thr22622=)
c.67491C>A (p.Thr22497=)
c.94686C>A (p.Thr31562=)
c.89763C>A (p.Thr29921=)
n.446+23106G>T
n.2043+4381G>T
c.93783C>A (p.Thr31261=)
c.67677C>A (p.Thr22559=)
c.67536C>A (p.Thr22512=)
c.93579C>A (p.Thr31193=)
c.88977C>A (p.Thr29659=)
c.88974C>A (p.Thr29658=)
c.86016C>A (p.Thr28672=)
c.67632C>A (p.Thr22544=)
c.89127C>A (p.Thr29709=)
c.89124C>A (p.Thr29708=)
c.88557C>A (p.Thr29519=)
c.85899C>A (p.Thr28633=)
c.85818C>A (p.Thr28606=)
c.67581C>A (p.Thr22527=)
c.57435C>A (p.Thr19145=)
2g.178546743G>ACA349471273TTN,TTN-AS1c.86981C>T (p.Thr28994Ile)
c.68066C>T (p.Thr22689Ile)
c.67865C>T (p.Thr22622Ile)
c.67490C>T (p.Thr22497Ile)
c.94685C>T (p.Thr31562Ile)
c.89762C>T (p.Thr29921Ile)
n.446+23107G>A
n.2043+4382G>A
c.93782C>T (p.Thr31261Ile)
c.67676C>T (p.Thr22559Ile)
c.67535C>T (p.Thr22512Ile)
c.93578C>T (p.Thr31193Ile)
c.88976C>T (p.Thr29659Ile)
c.88973C>T (p.Thr29658Ile)
c.86015C>T (p.Thr28672Ile)
c.67631C>T (p.Thr22544Ile)
c.89126C>T (p.Thr29709Ile)
c.89123C>T (p.Thr29708Ile)
c.88556C>T (p.Thr29519Ile)
c.85898C>T (p.Thr28633Ile)
c.85817C>T (p.Thr28606Ile)
c.67580C>T (p.Thr22527Ile)
c.57434C>T (p.Thr19145Ile)
2g.178546743G>CCA349471289TTN,TTN-AS1c.86981C>G (p.Thr28994Ser)
c.68066C>G (p.Thr22689Ser)
c.67865C>G (p.Thr22622Ser)
c.67490C>G (p.Thr22497Ser)
c.94685C>G (p.Thr31562Ser)
c.89762C>G (p.Thr29921Ser)
n.446+23107G>C
n.2043+4382G>C
c.93782C>G (p.Thr31261Ser)
c.67676C>G (p.Thr22559Ser)
c.67535C>G (p.Thr22512Ser)
c.93578C>G (p.Thr31193Ser)
c.88976C>G (p.Thr29659Ser)
c.88973C>G (p.Thr29658Ser)
c.86015C>G (p.Thr28672Ser)
c.67631C>G (p.Thr22544Ser)
c.89126C>G (p.Thr29709Ser)
c.89123C>G (p.Thr29708Ser)
c.88556C>G (p.Thr29519Ser)
c.85898C>G (p.Thr28633Ser)
c.85817C>G (p.Thr28606Ser)
c.67580C>G (p.Thr22527Ser)
c.57434C>G (p.Thr19145Ser)
2g.178546743G=CA1310523368TTN,TTN-AS1c.86981C= (p.Thr28994=)
c.68066C= (p.Thr22689=)
c.67865C= (p.Thr22622=)
c.67490C= (p.Thr22497=)
c.94685C= (p.Thr31562=)
c.89762C= (p.Thr29921=)
n.446+23107G=
n.2043+4382G=
c.93782C= (p.Thr31261=)
c.67676C= (p.Thr22559=)
c.67535C= (p.Thr22512=)
c.93578C= (p.Thr31193=)
c.88976C= (p.Thr29659=)
c.88973C= (p.Thr29658=)
c.86015C= (p.Thr28672=)
c.67631C= (p.Thr22544=)
c.89126C= (p.Thr29709=)
c.89123C= (p.Thr29708=)
c.88556C= (p.Thr29519=)
c.85898C= (p.Thr28633=)
c.85817C= (p.Thr28606=)
c.67580C= (p.Thr22527=)
c.57434C= (p.Thr19145=)
2g.178546743G>TCA349471293TTN,TTN-AS1c.86981C>A (p.Thr28994Asn)
c.68066C>A (p.Thr22689Asn)
c.67865C>A (p.Thr22622Asn)
c.67490C>A (p.Thr22497Asn)
c.94685C>A (p.Thr31562Asn)
c.89762C>A (p.Thr29921Asn)
n.446+23107G>T
n.2043+4382G>T
c.93782C>A (p.Thr31261Asn)
c.67676C>A (p.Thr22559Asn)
c.67535C>A (p.Thr22512Asn)
c.93578C>A (p.Thr31193Asn)
c.88976C>A (p.Thr29659Asn)
c.88973C>A (p.Thr29658Asn)
c.86015C>A (p.Thr28672Asn)
c.67631C>A (p.Thr22544Asn)
c.89126C>A (p.Thr29709Asn)
c.89123C>A (p.Thr29708Asn)
c.88556C>A (p.Thr29519Asn)
c.85898C>A (p.Thr28633Asn)
c.85817C>A (p.Thr28606Asn)
c.67580C>A (p.Thr22527Asn)
c.57434C>A (p.Thr19145Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178546744T>ACA349471305TTN,TTN-AS1c.86980A>T (p.Thr28994Ser)
c.68065A>T (p.Thr22689Ser)
c.67864A>T (p.Thr22622Ser)
c.67489A>T (p.Thr22497Ser)
c.94684A>T (p.Thr31562Ser)
c.89761A>T (p.Thr29921Ser)
n.446+23108T>A
n.2043+4383T>A
c.93781A>T (p.Thr31261Ser)
c.67675A>T (p.Thr22559Ser)
c.67534A>T (p.Thr22512Ser)
c.93577A>T (p.Thr31193Ser)
c.88975A>T (p.Thr29659Ser)
c.88972A>T (p.Thr29658Ser)
c.86014A>T (p.Thr28672Ser)
c.67630A>T (p.Thr22544Ser)
c.89125A>T (p.Thr29709Ser)
c.89122A>T (p.Thr29708Ser)
c.88555A>T (p.Thr29519Ser)
c.85897A>T (p.Thr28633Ser)
c.85816A>T (p.Thr28606Ser)
c.67579A>T (p.Thr22527Ser)
c.57433A>T (p.Thr19145Ser)
2g.178546744T>CCA349471311TTN,TTN-AS1c.86980A>G (p.Thr28994Ala)
c.68065A>G (p.Thr22689Ala)
c.67864A>G (p.Thr22622Ala)
c.67489A>G (p.Thr22497Ala)
c.94684A>G (p.Thr31562Ala)
c.89761A>G (p.Thr29921Ala)
n.446+23108T>C
n.2043+4383T>C
c.93781A>G (p.Thr31261Ala)
c.67675A>G (p.Thr22559Ala)
c.67534A>G (p.Thr22512Ala)
c.93577A>G (p.Thr31193Ala)
c.88975A>G (p.Thr29659Ala)
c.88972A>G (p.Thr29658Ala)
c.86014A>G (p.Thr28672Ala)
c.67630A>G (p.Thr22544Ala)
c.89125A>G (p.Thr29709Ala)
c.89122A>G (p.Thr29708Ala)
c.88555A>G (p.Thr29519Ala)
c.85897A>G (p.Thr28633Ala)
c.85816A>G (p.Thr28606Ala)
c.67579A>G (p.Thr22527Ala)
c.57433A>G (p.Thr19145Ala)
 gnomAD v4
2g.178546744T>GCA349471312TTN,TTN-AS1c.86980A>C (p.Thr28994Pro)
c.68065A>C (p.Thr22689Pro)
c.67864A>C (p.Thr22622Pro)
c.67489A>C (p.Thr22497Pro)
c.94684A>C (p.Thr31562Pro)
c.89761A>C (p.Thr29921Pro)
n.446+23108T>G
n.2043+4383T>G
c.93781A>C (p.Thr31261Pro)
c.67675A>C (p.Thr22559Pro)
c.67534A>C (p.Thr22512Pro)
c.93577A>C (p.Thr31193Pro)
c.88975A>C (p.Thr29659Pro)
c.88972A>C (p.Thr29658Pro)
c.86014A>C (p.Thr28672Pro)
c.67630A>C (p.Thr22544Pro)
c.89125A>C (p.Thr29709Pro)
c.89122A>C (p.Thr29708Pro)
c.88555A>C (p.Thr29519Pro)
c.85897A>C (p.Thr28633Pro)
c.85816A>C (p.Thr28606Pro)
c.67579A>C (p.Thr22527Pro)
c.57433A>C (p.Thr19145Pro)
2g.178546745G>ACA430242449TTN,TTN-AS1c.86979C>T (p.Tyr28993=)
c.68064C>T (p.Tyr22688=)
c.67863C>T (p.Tyr22621=)
c.67488C>T (p.Tyr22496=)
c.94683C>T (p.Tyr31561=)
c.89760C>T (p.Tyr29920=)
n.446+23109G>A
n.2043+4384G>A
c.93780C>T (p.Tyr31260=)
c.67674C>T (p.Tyr22558=)
c.67533C>T (p.Tyr22511=)
c.93576C>T (p.Tyr31192=)
c.88974C>T (p.Tyr29658=)
c.88971C>T (p.Tyr29657=)
c.86013C>T (p.Tyr28671=)
c.67629C>T (p.Tyr22543=)
c.89124C>T (p.Tyr29708=)
c.89121C>T (p.Tyr29707=)
c.88554C>T (p.Tyr29518=)
c.85896C>T (p.Tyr28632=)
c.85815C>T (p.Tyr28605=)
c.67578C>T (p.Tyr22526=)
c.57432C>T (p.Tyr19144=)
 gnomAD v4
2g.178546745G>CCA349471315TTN,TTN-AS1c.86979C>G (p.Tyr28993Ter)
c.68064C>G (p.Tyr22688Ter)
c.67863C>G (p.Tyr22621Ter)
c.67488C>G (p.Tyr22496Ter)
c.94683C>G (p.Tyr31561Ter)
c.89760C>G (p.Tyr29920Ter)
n.446+23109G>C
n.2043+4384G>C
c.93780C>G (p.Tyr31260Ter)
c.67674C>G (p.Tyr22558Ter)
c.67533C>G (p.Tyr22511Ter)
c.93576C>G (p.Tyr31192Ter)
c.88974C>G (p.Tyr29658Ter)
c.88971C>G (p.Tyr29657Ter)
c.86013C>G (p.Tyr28671Ter)
c.67629C>G (p.Tyr22543Ter)
c.89124C>G (p.Tyr29708Ter)
c.89121C>G (p.Tyr29707Ter)
c.88554C>G (p.Tyr29518Ter)
c.85896C>G (p.Tyr28632Ter)
c.85815C>G (p.Tyr28605Ter)
c.67578C>G (p.Tyr22526Ter)
c.57432C>G (p.Tyr19144Ter)
2g.178546745G>TCA349471318TTN,TTN-AS1c.86979C>A (p.Tyr28993Ter)
c.68064C>A (p.Tyr22688Ter)
c.67863C>A (p.Tyr22621Ter)
c.67488C>A (p.Tyr22496Ter)
c.94683C>A (p.Tyr31561Ter)
c.89760C>A (p.Tyr29920Ter)
n.446+23109G>T
n.2043+4384G>T
c.93780C>A (p.Tyr31260Ter)
c.67674C>A (p.Tyr22558Ter)
c.67533C>A (p.Tyr22511Ter)
c.93576C>A (p.Tyr31192Ter)
c.88974C>A (p.Tyr29658Ter)
c.88971C>A (p.Tyr29657Ter)
c.86013C>A (p.Tyr28671Ter)
c.67629C>A (p.Tyr22543Ter)
c.89124C>A (p.Tyr29708Ter)
c.89121C>A (p.Tyr29707Ter)
c.88554C>A (p.Tyr29518Ter)
c.85896C>A (p.Tyr28632Ter)
c.85815C>A (p.Tyr28605Ter)
c.67578C>A (p.Tyr22526Ter)
c.57432C>A (p.Tyr19144Ter)
2g.178546746T>ACA349471322TTN,TTN-AS1c.86978A>T (p.Tyr28993Phe)
c.68063A>T (p.Tyr22688Phe)
c.67862A>T (p.Tyr22621Phe)
c.67487A>T (p.Tyr22496Phe)
c.94682A>T (p.Tyr31561Phe)
c.89759A>T (p.Tyr29920Phe)
n.446+23110T>A
n.2043+4385T>A
c.93779A>T (p.Tyr31260Phe)
c.67673A>T (p.Tyr22558Phe)
c.67532A>T (p.Tyr22511Phe)
c.93575A>T (p.Tyr31192Phe)
c.88973A>T (p.Tyr29658Phe)
c.88970A>T (p.Tyr29657Phe)
c.86012A>T (p.Tyr28671Phe)
c.67628A>T (p.Tyr22543Phe)
c.89123A>T (p.Tyr29708Phe)
c.89120A>T (p.Tyr29707Phe)
c.88553A>T (p.Tyr29518Phe)
c.85895A>T (p.Tyr28632Phe)
c.85814A>T (p.Tyr28605Phe)
c.67577A>T (p.Tyr22526Phe)
c.57431A>T (p.Tyr19144Phe)
2g.178546746T>CCA349471327TTN,TTN-AS1c.86978A>G (p.Tyr28993Cys)
c.68063A>G (p.Tyr22688Cys)
c.67862A>G (p.Tyr22621Cys)
c.67487A>G (p.Tyr22496Cys)
c.94682A>G (p.Tyr31561Cys)
c.89759A>G (p.Tyr29920Cys)
n.446+23110T>C
n.2043+4385T>C
c.93779A>G (p.Tyr31260Cys)
c.67673A>G (p.Tyr22558Cys)
c.67532A>G (p.Tyr22511Cys)
c.93575A>G (p.Tyr31192Cys)
c.88973A>G (p.Tyr29658Cys)
c.88970A>G (p.Tyr29657Cys)
c.86012A>G (p.Tyr28671Cys)
c.67628A>G (p.Tyr22543Cys)
c.89123A>G (p.Tyr29708Cys)
c.89120A>G (p.Tyr29707Cys)
c.88553A>G (p.Tyr29518Cys)
c.85895A>G (p.Tyr28632Cys)
c.85814A>G (p.Tyr28605Cys)
c.67577A>G (p.Tyr22526Cys)
c.57431A>G (p.Tyr19144Cys)
2g.178546746T>GCA349471338TTN,TTN-AS1c.86978A>C (p.Tyr28993Ser)
c.68063A>C (p.Tyr22688Ser)
c.67862A>C (p.Tyr22621Ser)
c.67487A>C (p.Tyr22496Ser)
c.94682A>C (p.Tyr31561Ser)
c.89759A>C (p.Tyr29920Ser)
n.446+23110T>G
n.2043+4385T>G
c.93779A>C (p.Tyr31260Ser)
c.67673A>C (p.Tyr22558Ser)
c.67532A>C (p.Tyr22511Ser)
c.93575A>C (p.Tyr31192Ser)
c.88973A>C (p.Tyr29658Ser)
c.88970A>C (p.Tyr29657Ser)
c.86012A>C (p.Tyr28671Ser)
c.67628A>C (p.Tyr22543Ser)
c.89123A>C (p.Tyr29708Ser)
c.89120A>C (p.Tyr29707Ser)
c.88553A>C (p.Tyr29518Ser)
c.85895A>C (p.Tyr28632Ser)
c.85814A>C (p.Tyr28605Ser)
c.67577A>C (p.Tyr22526Ser)
c.57431A>C (p.Tyr19144Ser)
2g.178546747A>CCA349471341TTN,TTN-AS1c.86977T>G (p.Tyr28993Asp)
c.68062T>G (p.Tyr22688Asp)
c.67861T>G (p.Tyr22621Asp)
c.67486T>G (p.Tyr22496Asp)
c.94681T>G (p.Tyr31561Asp)
c.89758T>G (p.Tyr29920Asp)
n.446+23111A>C
n.2043+4386A>C
c.93778T>G (p.Tyr31260Asp)
c.67672T>G (p.Tyr22558Asp)
c.67531T>G (p.Tyr22511Asp)
c.93574T>G (p.Tyr31192Asp)
c.88972T>G (p.Tyr29658Asp)
c.88969T>G (p.Tyr29657Asp)
c.86011T>G (p.Tyr28671Asp)
c.67627T>G (p.Tyr22543Asp)
c.89122T>G (p.Tyr29708Asp)
c.89119T>G (p.Tyr29707Asp)
c.88552T>G (p.Tyr29518Asp)
c.85894T>G (p.Tyr28632Asp)
c.85813T>G (p.Tyr28605Asp)
c.67576T>G (p.Tyr22526Asp)
c.57430T>G (p.Tyr19144Asp)
2g.178546747A>GCA349471349TTN,TTN-AS1c.86977T>C (p.Tyr28993His)
c.68062T>C (p.Tyr22688His)
c.67861T>C (p.Tyr22621His)
c.67486T>C (p.Tyr22496His)
c.94681T>C (p.Tyr31561His)
c.89758T>C (p.Tyr29920His)
n.446+23111A>G
n.2043+4386A>G
c.93778T>C (p.Tyr31260His)
c.67672T>C (p.Tyr22558His)
c.67531T>C (p.Tyr22511His)
c.93574T>C (p.Tyr31192His)
c.88972T>C (p.Tyr29658His)
c.88969T>C (p.Tyr29657His)
c.86011T>C (p.Tyr28671His)
c.67627T>C (p.Tyr22543His)
c.89122T>C (p.Tyr29708His)
c.89119T>C (p.Tyr29707His)
c.88552T>C (p.Tyr29518His)
c.85894T>C (p.Tyr28632His)
c.85813T>C (p.Tyr28605His)
c.67576T>C (p.Tyr22526His)
c.57430T>C (p.Tyr19144His)
2g.178546747A>TCA349471344TTN,TTN-AS1c.86977T>A (p.Tyr28993Asn)
c.68062T>A (p.Tyr22688Asn)
c.67861T>A (p.Tyr22621Asn)
c.67486T>A (p.Tyr22496Asn)
c.94681T>A (p.Tyr31561Asn)
c.89758T>A (p.Tyr29920Asn)
n.446+23111A>T
n.2043+4386A>T
c.93778T>A (p.Tyr31260Asn)
c.67672T>A (p.Tyr22558Asn)
c.67531T>A (p.Tyr22511Asn)
c.93574T>A (p.Tyr31192Asn)
c.88972T>A (p.Tyr29658Asn)
c.88969T>A (p.Tyr29657Asn)
c.86011T>A (p.Tyr28671Asn)
c.67627T>A (p.Tyr22543Asn)
c.89122T>A (p.Tyr29708Asn)
c.89119T>A (p.Tyr29707Asn)
c.88552T>A (p.Tyr29518Asn)
c.85894T>A (p.Tyr28632Asn)
c.85813T>A (p.Tyr28605Asn)
c.67576T>A (p.Tyr22526Asn)
c.57430T>A (p.Tyr19144Asn)
2g.178546748G>ACA60972550TTN,TTN-AS1c.86976C>T (p.Asn28992=)
c.68061C>T (p.Asn22687=)
c.67860C>T (p.Asn22620=)
c.67485C>T (p.Asn22495=)
c.94680C>T (p.Asn31560=)
c.89757C>T (p.Asn29919=)
n.446+23112G>A
n.2043+4387G>A
c.93777C>T (p.Asn31259=)
c.67671C>T (p.Asn22557=)
c.67530C>T (p.Asn22510=)
c.93573C>T (p.Asn31191=)
c.88971C>T (p.Asn29657=)
c.88968C>T (p.Asn29656=)
c.86010C>T (p.Asn28670=)
c.67626C>T (p.Asn22542=)
c.89121C>T (p.Asn29707=)
c.89118C>T (p.Asn29706=)
c.88551C>T (p.Asn29517=)
c.85893C>T (p.Asn28631=)
c.85812C>T (p.Asn28604=)
c.67575C>T (p.Asn22525=)
c.57429C>T (p.Asn19143=)
 dbSNP gnomAD v3 gnomAD v4
2g.178546748G>CCA349471353TTN,TTN-AS1c.86976C>G (p.Asn28992Lys)
c.68061C>G (p.Asn22687Lys)
c.67860C>G (p.Asn22620Lys)
c.67485C>G (p.Asn22495Lys)
c.94680C>G (p.Asn31560Lys)
c.89757C>G (p.Asn29919Lys)
n.446+23112G>C
n.2043+4387G>C
c.93777C>G (p.Asn31259Lys)
c.67671C>G (p.Asn22557Lys)
c.67530C>G (p.Asn22510Lys)
c.93573C>G (p.Asn31191Lys)
c.88971C>G (p.Asn29657Lys)
c.88968C>G (p.Asn29656Lys)
c.86010C>G (p.Asn28670Lys)
c.67626C>G (p.Asn22542Lys)
c.89121C>G (p.Asn29707Lys)
c.89118C>G (p.Asn29706Lys)
c.88551C>G (p.Asn29517Lys)
c.85893C>G (p.Asn28631Lys)
c.85812C>G (p.Asn28604Lys)
c.67575C>G (p.Asn22525Lys)
c.57429C>G (p.Asn19143Lys)
2g.178546748G=CA1310523369TTN,TTN-AS1c.86976C= (p.Asn28992=)
c.68061C= (p.Asn22687=)
c.67860C= (p.Asn22620=)
c.67485C= (p.Asn22495=)
c.94680C= (p.Asn31560=)
c.89757C= (p.Asn29919=)
n.446+23112G=
n.2043+4387G=
c.93777C= (p.Asn31259=)
c.67671C= (p.Asn22557=)
c.67530C= (p.Asn22510=)
c.93573C= (p.Asn31191=)
c.88971C= (p.Asn29657=)
c.88968C= (p.Asn29656=)
c.86010C= (p.Asn28670=)
c.67626C= (p.Asn22542=)
c.89121C= (p.Asn29707=)
c.89118C= (p.Asn29706=)
c.88551C= (p.Asn29517=)
c.85893C= (p.Asn28631=)
c.85812C= (p.Asn28604=)
c.67575C= (p.Asn22525=)
c.57429C= (p.Asn19143=)
2g.178546748G>TCA349471351TTN,TTN-AS1c.86976C>A (p.Asn28992Lys)
c.68061C>A (p.Asn22687Lys)
c.67860C>A (p.Asn22620Lys)
c.67485C>A (p.Asn22495Lys)
c.94680C>A (p.Asn31560Lys)
c.89757C>A (p.Asn29919Lys)
n.446+23112G>T
n.2043+4387G>T
c.93777C>A (p.Asn31259Lys)
c.67671C>A (p.Asn22557Lys)
c.67530C>A (p.Asn22510Lys)
c.93573C>A (p.Asn31191Lys)
c.88971C>A (p.Asn29657Lys)
c.88968C>A (p.Asn29656Lys)
c.86010C>A (p.Asn28670Lys)
c.67626C>A (p.Asn22542Lys)
c.89121C>A (p.Asn29707Lys)
c.89118C>A (p.Asn29706Lys)
c.88551C>A (p.Asn29517Lys)
c.85893C>A (p.Asn28631Lys)
c.85812C>A (p.Asn28604Lys)
c.67575C>A (p.Asn22525Lys)
c.57429C>A (p.Asn19143Lys)
2g.178546749T>ACA349471357TTN,TTN-AS1c.86975A>T (p.Asn28992Ile)
c.68060A>T (p.Asn22687Ile)
c.67859A>T (p.Asn22620Ile)
c.67484A>T (p.Asn22495Ile)
c.94679A>T (p.Asn31560Ile)
c.89756A>T (p.Asn29919Ile)
n.446+23113T>A
n.2043+4388T>A
c.93776A>T (p.Asn31259Ile)
c.67670A>T (p.Asn22557Ile)
c.67529A>T (p.Asn22510Ile)
c.93572A>T (p.Asn31191Ile)
c.88970A>T (p.Asn29657Ile)
c.88967A>T (p.Asn29656Ile)
c.86009A>T (p.Asn28670Ile)
c.67625A>T (p.Asn22542Ile)
c.89120A>T (p.Asn29707Ile)
c.89117A>T (p.Asn29706Ile)
c.88550A>T (p.Asn29517Ile)
c.85892A>T (p.Asn28631Ile)
c.85811A>T (p.Asn28604Ile)
c.67574A>T (p.Asn22525Ile)
c.57428A>T (p.Asn19143Ile)
2g.178546749T>CCA349471370TTN,TTN-AS1c.86975A>G (p.Asn28992Ser)
c.68060A>G (p.Asn22687Ser)
c.67859A>G (p.Asn22620Ser)
c.67484A>G (p.Asn22495Ser)
c.94679A>G (p.Asn31560Ser)
c.89756A>G (p.Asn29919Ser)
n.446+23113T>C
n.2043+4388T>C
c.93776A>G (p.Asn31259Ser)
c.67670A>G (p.Asn22557Ser)
c.67529A>G (p.Asn22510Ser)
c.93572A>G (p.Asn31191Ser)
c.88970A>G (p.Asn29657Ser)
c.88967A>G (p.Asn29656Ser)
c.86009A>G (p.Asn28670Ser)
c.67625A>G (p.Asn22542Ser)
c.89120A>G (p.Asn29707Ser)
c.89117A>G (p.Asn29706Ser)
c.88550A>G (p.Asn29517Ser)
c.85892A>G (p.Asn28631Ser)
c.85811A>G (p.Asn28604Ser)
c.67574A>G (p.Asn22525Ser)
c.57428A>G (p.Asn19143Ser)
 gnomAD v4
2g.178546749T>GCA349471367TTN,TTN-AS1c.86975A>C (p.Asn28992Thr)
c.68060A>C (p.Asn22687Thr)
c.67859A>C (p.Asn22620Thr)
c.67484A>C (p.Asn22495Thr)
c.94679A>C (p.Asn31560Thr)
c.89756A>C (p.Asn29919Thr)
n.446+23113T>G
n.2043+4388T>G
c.93776A>C (p.Asn31259Thr)
c.67670A>C (p.Asn22557Thr)
c.67529A>C (p.Asn22510Thr)
c.93572A>C (p.Asn31191Thr)
c.88970A>C (p.Asn29657Thr)
c.88967A>C (p.Asn29656Thr)
c.86009A>C (p.Asn28670Thr)
c.67625A>C (p.Asn22542Thr)
c.89120A>C (p.Asn29707Thr)
c.89117A>C (p.Asn29706Thr)
c.88550A>C (p.Asn29517Thr)
c.85892A>C (p.Asn28631Thr)
c.85811A>C (p.Asn28604Thr)
c.67574A>C (p.Asn22525Thr)
c.57428A>C (p.Asn19143Thr)
2g.178546750T>ACA349471378TTN,TTN-AS1c.86974A>T (p.Asn28992Tyr)
c.68059A>T (p.Asn22687Tyr)
c.67858A>T (p.Asn22620Tyr)
c.67483A>T (p.Asn22495Tyr)
c.94678A>T (p.Asn31560Tyr)
c.89755A>T (p.Asn29919Tyr)
n.446+23114T>A
n.2043+4389T>A
c.93775A>T (p.Asn31259Tyr)
c.67669A>T (p.Asn22557Tyr)
c.67528A>T (p.Asn22510Tyr)
c.93571A>T (p.Asn31191Tyr)
c.88969A>T (p.Asn29657Tyr)
c.88966A>T (p.Asn29656Tyr)
c.86008A>T (p.Asn28670Tyr)
c.67624A>T (p.Asn22542Tyr)
c.89119A>T (p.Asn29707Tyr)
c.89116A>T (p.Asn29706Tyr)
c.88549A>T (p.Asn29517Tyr)
c.85891A>T (p.Asn28631Tyr)
c.85810A>T (p.Asn28604Tyr)
c.67573A>T (p.Asn22525Tyr)
c.57427A>T (p.Asn19143Tyr)
2g.178546750T>CCA349471379TTN,TTN-AS1c.86974A>G (p.Asn28992Asp)
c.68059A>G (p.Asn22687Asp)
c.67858A>G (p.Asn22620Asp)
c.67483A>G (p.Asn22495Asp)
c.94678A>G (p.Asn31560Asp)
c.89755A>G (p.Asn29919Asp)
n.446+23114T>C
n.2043+4389T>C
c.93775A>G (p.Asn31259Asp)
c.67669A>G (p.Asn22557Asp)
c.67528A>G (p.Asn22510Asp)
c.93571A>G (p.Asn31191Asp)
c.88969A>G (p.Asn29657Asp)
c.88966A>G (p.Asn29656Asp)
c.86008A>G (p.Asn28670Asp)
c.67624A>G (p.Asn22542Asp)
c.89119A>G (p.Asn29707Asp)
c.89116A>G (p.Asn29706Asp)
c.88549A>G (p.Asn29517Asp)
c.85891A>G (p.Asn28631Asp)
c.85810A>G (p.Asn28604Asp)
c.67573A>G (p.Asn22525Asp)
c.57427A>G (p.Asn19143Asp)
2g.178546750T>GCA349471380TTN,TTN-AS1c.86974A>C (p.Asn28992His)
c.68059A>C (p.Asn22687His)
c.67858A>C (p.Asn22620His)
c.67483A>C (p.Asn22495His)
c.94678A>C (p.Asn31560His)
c.89755A>C (p.Asn29919His)
n.446+23114T>G
n.2043+4389T>G
c.93775A>C (p.Asn31259His)
c.67669A>C (p.Asn22557His)
c.67528A>C (p.Asn22510His)
c.93571A>C (p.Asn31191His)
c.88969A>C (p.Asn29657His)
c.88966A>C (p.Asn29656His)
c.86008A>C (p.Asn28670His)
c.67624A>C (p.Asn22542His)
c.89119A>C (p.Asn29707His)
c.89116A>C (p.Asn29706His)
c.88549A>C (p.Asn29517His)
c.85891A>C (p.Asn28631His)
c.85810A>C (p.Asn28604His)
c.67573A>C (p.Asn22525His)
c.57427A>C (p.Asn19143His)
2g.178546751G>ACA430242450TTN,TTN-AS1c.86973C>T (p.Cys28991=)
c.68058C>T (p.Cys22686=)
c.67857C>T (p.Cys22619=)
c.67482C>T (p.Cys22494=)
c.94677C>T (p.Cys31559=)
c.89754C>T (p.Cys29918=)
n.446+23115G>A
n.2043+4390G>A
c.93774C>T (p.Cys31258=)
c.67668C>T (p.Cys22556=)
c.67527C>T (p.Cys22509=)
c.93570C>T (p.Cys31190=)
c.88968C>T (p.Cys29656=)
c.88965C>T (p.Cys29655=)
c.86007C>T (p.Cys28669=)
c.67623C>T (p.Cys22541=)
c.89118C>T (p.Cys29706=)
c.89115C>T (p.Cys29705=)
c.88548C>T (p.Cys29516=)
c.85890C>T (p.Cys28630=)
c.85809C>T (p.Cys28603=)
c.67572C>T (p.Cys22524=)
c.57426C>T (p.Cys19142=)
2g.178546751G>CCA349471381TTN,TTN-AS1c.86973C>G (p.Cys28991Trp)
c.68058C>G (p.Cys22686Trp)
c.67857C>G (p.Cys22619Trp)
c.67482C>G (p.Cys22494Trp)
c.94677C>G (p.Cys31559Trp)
c.89754C>G (p.Cys29918Trp)
n.446+23115G>C
n.2043+4390G>C
c.93774C>G (p.Cys31258Trp)
c.67668C>G (p.Cys22556Trp)
c.67527C>G (p.Cys22509Trp)
c.93570C>G (p.Cys31190Trp)
c.88968C>G (p.Cys29656Trp)
c.88965C>G (p.Cys29655Trp)
c.86007C>G (p.Cys28669Trp)
c.67623C>G (p.Cys22541Trp)
c.89118C>G (p.Cys29706Trp)
c.89115C>G (p.Cys29705Trp)
c.88548C>G (p.Cys29516Trp)
c.85890C>G (p.Cys28630Trp)
c.85809C>G (p.Cys28603Trp)
c.67572C>G (p.Cys22524Trp)
c.57426C>G (p.Cys19142Trp)
2g.178546751G>TCA349471390TTN,TTN-AS1c.86973C>A (p.Cys28991Ter)
c.68058C>A (p.Cys22686Ter)
c.67857C>A (p.Cys22619Ter)
c.67482C>A (p.Cys22494Ter)
c.94677C>A (p.Cys31559Ter)
c.89754C>A (p.Cys29918Ter)
n.446+23115G>T
n.2043+4390G>T
c.93774C>A (p.Cys31258Ter)
c.67668C>A (p.Cys22556Ter)
c.67527C>A (p.Cys22509Ter)
c.93570C>A (p.Cys31190Ter)
c.88968C>A (p.Cys29656Ter)
c.88965C>A (p.Cys29655Ter)
c.86007C>A (p.Cys28669Ter)
c.67623C>A (p.Cys22541Ter)
c.89118C>A (p.Cys29706Ter)
c.89115C>A (p.Cys29705Ter)
c.88548C>A (p.Cys29516Ter)
c.85890C>A (p.Cys28630Ter)
c.85809C>A (p.Cys28603Ter)
c.67572C>A (p.Cys22524Ter)
c.57426C>A (p.Cys19142Ter)
2g.178546752C>ACA349471400TTN,TTN-AS1c.86972G>T (p.Cys28991Phe)
c.68057G>T (p.Cys22686Phe)
c.67856G>T (p.Cys22619Phe)
c.67481G>T (p.Cys22494Phe)
c.94676G>T (p.Cys31559Phe)
c.89753G>T (p.Cys29918Phe)
n.446+23116C>A
n.2043+4391C>A
c.93773G>T (p.Cys31258Phe)
c.67667G>T (p.Cys22556Phe)
c.67526G>T (p.Cys22509Phe)
c.93569G>T (p.Cys31190Phe)
c.88967G>T (p.Cys29656Phe)
c.88964G>T (p.Cys29655Phe)
c.86006G>T (p.Cys28669Phe)
c.67622G>T (p.Cys22541Phe)
c.89117G>T (p.Cys29706Phe)
c.89114G>T (p.Cys29705Phe)
c.88547G>T (p.Cys29516Phe)
c.85889G>T (p.Cys28630Phe)
c.85808G>T (p.Cys28603Phe)
c.67571G>T (p.Cys22524Phe)
c.57425G>T (p.Cys19142Phe)
2g.178546752C=CA1310523371TTN,TTN-AS1c.86972G= (p.Cys28991=)
c.68057G= (p.Cys22686=)
c.67856G= (p.Cys22619=)
c.67481G= (p.Cys22494=)
c.94676G= (p.Cys31559=)
c.89753G= (p.Cys29918=)
n.446+23116C=
n.2043+4391C=
c.93773G= (p.Cys31258=)
c.67667G= (p.Cys22556=)
c.67526G= (p.Cys22509=)
c.93569G= (p.Cys31190=)
c.88967G= (p.Cys29656=)
c.88964G= (p.Cys29655=)
c.86006G= (p.Cys28669=)
c.67622G= (p.Cys22541=)
c.89117G= (p.Cys29706=)
c.89114G= (p.Cys29705=)
c.88547G= (p.Cys29516=)
c.85889G= (p.Cys28630=)
c.85808G= (p.Cys28603=)
c.67571G= (p.Cys22524=)
c.57425G= (p.Cys19142=)
2g.178546752C>GCA349471412TTN,TTN-AS1c.86972G>C (p.Cys28991Ser)
c.68057G>C (p.Cys22686Ser)
c.67856G>C (p.Cys22619Ser)
c.67481G>C (p.Cys22494Ser)
c.94676G>C (p.Cys31559Ser)
c.89753G>C (p.Cys29918Ser)
n.446+23116C>G
n.2043+4391C>G
c.93773G>C (p.Cys31258Ser)
c.67667G>C (p.Cys22556Ser)
c.67526G>C (p.Cys22509Ser)
c.93569G>C (p.Cys31190Ser)
c.88967G>C (p.Cys29656Ser)
c.88964G>C (p.Cys29655Ser)
c.86006G>C (p.Cys28669Ser)
c.67622G>C (p.Cys22541Ser)
c.89117G>C (p.Cys29706Ser)
c.89114G>C (p.Cys29705Ser)
c.88547G>C (p.Cys29516Ser)
c.85889G>C (p.Cys28630Ser)
c.85808G>C (p.Cys28603Ser)
c.67571G>C (p.Cys22524Ser)
c.57425G>C (p.Cys19142Ser)
2g.178546752C>TCA349471415TTN,TTN-AS1c.86972G>A (p.Cys28991Tyr)
c.68057G>A (p.Cys22686Tyr)
c.67856G>A (p.Cys22619Tyr)
c.67481G>A (p.Cys22494Tyr)
c.94676G>A (p.Cys31559Tyr)
c.89753G>A (p.Cys29918Tyr)
n.446+23116C>T
n.2043+4391C>T
c.93773G>A (p.Cys31258Tyr)
c.67667G>A (p.Cys22556Tyr)
c.67526G>A (p.Cys22509Tyr)
c.93569G>A (p.Cys31190Tyr)
c.88967G>A (p.Cys29656Tyr)
c.88964G>A (p.Cys29655Tyr)
c.86006G>A (p.Cys28669Tyr)
c.67622G>A (p.Cys22541Tyr)
c.89117G>A (p.Cys29706Tyr)
c.89114G>A (p.Cys29705Tyr)
c.88547G>A (p.Cys29516Tyr)
c.85889G>A (p.Cys28630Tyr)
c.85808G>A (p.Cys28603Tyr)
c.67571G>A (p.Cys22524Tyr)
c.57425G>A (p.Cys19142Tyr)
 dbSNP
2g.178546753A>CCA349471418TTN,TTN-AS1c.86971T>G (p.Cys28991Gly)
c.68056T>G (p.Cys22686Gly)
c.67855T>G (p.Cys22619Gly)
c.67480T>G (p.Cys22494Gly)
c.94675T>G (p.Cys31559Gly)
c.89752T>G (p.Cys29918Gly)
n.446+23117A>C
n.2043+4392A>C
c.93772T>G (p.Cys31258Gly)
c.67666T>G (p.Cys22556Gly)
c.67525T>G (p.Cys22509Gly)
c.93568T>G (p.Cys31190Gly)
c.88966T>G (p.Cys29656Gly)
c.88963T>G (p.Cys29655Gly)
c.86005T>G (p.Cys28669Gly)
c.67621T>G (p.Cys22541Gly)
c.89116T>G (p.Cys29706Gly)
c.89113T>G (p.Cys29705Gly)
c.88546T>G (p.Cys29516Gly)
c.85888T>G (p.Cys28630Gly)
c.85807T>G (p.Cys28603Gly)
c.67570T>G (p.Cys22524Gly)
c.57424T>G (p.Cys19142Gly)
2g.178546753A>GCA349471423TTN,TTN-AS1c.86971T>C (p.Cys28991Arg)
c.68056T>C (p.Cys22686Arg)
c.67855T>C (p.Cys22619Arg)
c.67480T>C (p.Cys22494Arg)
c.94675T>C (p.Cys31559Arg)
c.89752T>C (p.Cys29918Arg)
n.446+23117A>G
n.2043+4392A>G
c.93772T>C (p.Cys31258Arg)
c.67666T>C (p.Cys22556Arg)
c.67525T>C (p.Cys22509Arg)
c.93568T>C (p.Cys31190Arg)
c.88966T>C (p.Cys29656Arg)
c.88963T>C (p.Cys29655Arg)
c.86005T>C (p.Cys28669Arg)
c.67621T>C (p.Cys22541Arg)
c.89116T>C (p.Cys29706Arg)
c.89113T>C (p.Cys29705Arg)
c.88546T>C (p.Cys29516Arg)
c.85888T>C (p.Cys28630Arg)
c.85807T>C (p.Cys28603Arg)
c.67570T>C (p.Cys22524Arg)
c.57424T>C (p.Cys19142Arg)
2g.178546753A>TCA349471425TTN,TTN-AS1c.86971T>A (p.Cys28991Ser)
c.68056T>A (p.Cys22686Ser)
c.67855T>A (p.Cys22619Ser)
c.67480T>A (p.Cys22494Ser)
c.94675T>A (p.Cys31559Ser)
c.89752T>A (p.Cys29918Ser)
n.446+23117A>T
n.2043+4392A>T
c.93772T>A (p.Cys31258Ser)
c.67666T>A (p.Cys22556Ser)
c.67525T>A (p.Cys22509Ser)
c.93568T>A (p.Cys31190Ser)
c.88966T>A (p.Cys29656Ser)
c.88963T>A (p.Cys29655Ser)
c.86005T>A (p.Cys28669Ser)
c.67621T>A (p.Cys22541Ser)
c.89116T>A (p.Cys29706Ser)
c.89113T>A (p.Cys29705Ser)
c.88546T>A (p.Cys29516Ser)
c.85888T>A (p.Cys28630Ser)
c.85807T>A (p.Cys28603Ser)
c.67570T>A (p.Cys22524Ser)
c.57424T>A (p.Cys19142Ser)
2g.178546754C>ACA349471427TTN,TTN-AS1c.86970G>T (p.Lys28990Asn)
c.68055G>T (p.Lys22685Asn)
c.67854G>T (p.Lys22618Asn)
c.67479G>T (p.Lys22493Asn)
c.94674G>T (p.Lys31558Asn)
c.89751G>T (p.Lys29917Asn)
n.446+23118C>A
n.2043+4393C>A
c.93771G>T (p.Lys31257Asn)
c.67665G>T (p.Lys22555Asn)
c.67524G>T (p.Lys22508Asn)
c.93567G>T (p.Lys31189Asn)
c.88965G>T (p.Lys29655Asn)
c.88962G>T (p.Lys29654Asn)
c.86004G>T (p.Lys28668Asn)
c.67620G>T (p.Lys22540Asn)
c.89115G>T (p.Lys29705Asn)
c.89112G>T (p.Lys29704Asn)
c.88545G>T (p.Lys29515Asn)
c.85887G>T (p.Lys28629Asn)
c.85806G>T (p.Lys28602Asn)
c.67569G>T (p.Lys22523Asn)
c.57423G>T (p.Lys19141Asn)
2g.178546754C=CA1310523373TTN,TTN-AS1c.86970G= (p.Lys28990=)
c.68055G= (p.Lys22685=)
c.67854G= (p.Lys22618=)
c.67479G= (p.Lys22493=)
c.94674G= (p.Lys31558=)
c.89751G= (p.Lys29917=)
n.446+23118C=
n.2043+4393C=
c.93771G= (p.Lys31257=)
c.67665G= (p.Lys22555=)
c.67524G= (p.Lys22508=)
c.93567G= (p.Lys31189=)
c.88965G= (p.Lys29655=)
c.88962G= (p.Lys29654=)
c.86004G= (p.Lys28668=)
c.67620G= (p.Lys22540=)
c.89115G= (p.Lys29705=)
c.89112G= (p.Lys29704=)
c.88545G= (p.Lys29515=)
c.85887G= (p.Lys28629=)
c.85806G= (p.Lys28602=)
c.67569G= (p.Lys22523=)
c.57423G= (p.Lys19141=)
2g.178546754C>GCA349471426TTN,TTN-AS1c.86970G>C (p.Lys28990Asn)
c.68055G>C (p.Lys22685Asn)
c.67854G>C (p.Lys22618Asn)
c.67479G>C (p.Lys22493Asn)
c.94674G>C (p.Lys31558Asn)
c.89751G>C (p.Lys29917Asn)
n.446+23118C>G
n.2043+4393C>G
c.93771G>C (p.Lys31257Asn)
c.67665G>C (p.Lys22555Asn)
c.67524G>C (p.Lys22508Asn)
c.93567G>C (p.Lys31189Asn)
c.88965G>C (p.Lys29655Asn)
c.88962G>C (p.Lys29654Asn)
c.86004G>C (p.Lys28668Asn)
c.67620G>C (p.Lys22540Asn)
c.89115G>C (p.Lys29705Asn)
c.89112G>C (p.Lys29704Asn)
c.88545G>C (p.Lys29515Asn)
c.85887G>C (p.Lys28629Asn)
c.85806G>C (p.Lys28602Asn)
c.67569G>C (p.Lys22523Asn)
c.57423G>C (p.Lys19141Asn)
 gnomAD v4
2g.178546754C>TCA430242451TTN,TTN-AS1c.86970G>A (p.Lys28990=)
c.68055G>A (p.Lys22685=)
c.67854G>A (p.Lys22618=)
c.67479G>A (p.Lys22493=)
c.94674G>A (p.Lys31558=)
c.89751G>A (p.Lys29917=)
n.446+23118C>T
n.2043+4393C>T
c.93771G>A (p.Lys31257=)
c.67665G>A (p.Lys22555=)
c.67524G>A (p.Lys22508=)
c.93567G>A (p.Lys31189=)
c.88965G>A (p.Lys29655=)
c.88962G>A (p.Lys29654=)
c.86004G>A (p.Lys28668=)
c.67620G>A (p.Lys22540=)
c.89115G>A (p.Lys29705=)
c.89112G>A (p.Lys29704=)
c.88545G>A (p.Lys29515=)
c.85887G>A (p.Lys28629=)
c.85806G>A (p.Lys28602=)
c.67569G>A (p.Lys22523=)
c.57423G>A (p.Lys19141=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546755T>ACA349471428TTN,TTN-AS1c.86969A>T (p.Lys28990Met)
c.68054A>T (p.Lys22685Met)
c.67853A>T (p.Lys22618Met)
c.67478A>T (p.Lys22493Met)
c.94673A>T (p.Lys31558Met)
c.89750A>T (p.Lys29917Met)
n.446+23119T>A
n.2043+4394T>A
c.93770A>T (p.Lys31257Met)
c.67664A>T (p.Lys22555Met)
c.67523A>T (p.Lys22508Met)
c.93566A>T (p.Lys31189Met)
c.88964A>T (p.Lys29655Met)
c.88961A>T (p.Lys29654Met)
c.86003A>T (p.Lys28668Met)
c.67619A>T (p.Lys22540Met)
c.89114A>T (p.Lys29705Met)
c.89111A>T (p.Lys29704Met)
c.88544A>T (p.Lys29515Met)
c.85886A>T (p.Lys28629Met)
c.85805A>T (p.Lys28602Met)
c.67568A>T (p.Lys22523Met)
c.57422A>T (p.Lys19141Met)
2g.178546755T>CCA349471429TTN,TTN-AS1c.86969A>G (p.Lys28990Arg)
c.68054A>G (p.Lys22685Arg)
c.67853A>G (p.Lys22618Arg)
c.67478A>G (p.Lys22493Arg)
c.94673A>G (p.Lys31558Arg)
c.89750A>G (p.Lys29917Arg)
n.446+23119T>C
n.2043+4394T>C
c.93770A>G (p.Lys31257Arg)
c.67664A>G (p.Lys22555Arg)
c.67523A>G (p.Lys22508Arg)
c.93566A>G (p.Lys31189Arg)
c.88964A>G (p.Lys29655Arg)
c.88961A>G (p.Lys29654Arg)
c.86003A>G (p.Lys28668Arg)
c.67619A>G (p.Lys22540Arg)
c.89114A>G (p.Lys29705Arg)
c.89111A>G (p.Lys29704Arg)
c.88544A>G (p.Lys29515Arg)
c.85886A>G (p.Lys28629Arg)
c.85805A>G (p.Lys28602Arg)
c.67568A>G (p.Lys22523Arg)
c.57422A>G (p.Lys19141Arg)
2g.178546755T>GCA349471430TTN,TTN-AS1c.86969A>C (p.Lys28990Thr)
c.68054A>C (p.Lys22685Thr)
c.67853A>C (p.Lys22618Thr)
c.67478A>C (p.Lys22493Thr)
c.94673A>C (p.Lys31558Thr)
c.89750A>C (p.Lys29917Thr)
n.446+23119T>G
n.2043+4394T>G
c.93770A>C (p.Lys31257Thr)
c.67664A>C (p.Lys22555Thr)
c.67523A>C (p.Lys22508Thr)
c.93566A>C (p.Lys31189Thr)
c.88964A>C (p.Lys29655Thr)
c.88961A>C (p.Lys29654Thr)
c.86003A>C (p.Lys28668Thr)
c.67619A>C (p.Lys22540Thr)
c.89114A>C (p.Lys29705Thr)
c.89111A>C (p.Lys29704Thr)
c.88544A>C (p.Lys29515Thr)
c.85886A>C (p.Lys28629Thr)
c.85805A>C (p.Lys28602Thr)
c.67568A>C (p.Lys22523Thr)
c.57422A>C (p.Lys19141Thr)
2g.178546756T>ACA349471434TTN,TTN-AS1c.86968A>T (p.Lys28990Ter)
c.68053A>T (p.Lys22685Ter)
c.67852A>T (p.Lys22618Ter)
c.67477A>T (p.Lys22493Ter)
c.94672A>T (p.Lys31558Ter)
c.89749A>T (p.Lys29917Ter)
n.446+23120T>A
n.2043+4395T>A
c.93769A>T (p.Lys31257Ter)
c.67663A>T (p.Lys22555Ter)
c.67522A>T (p.Lys22508Ter)
c.93565A>T (p.Lys31189Ter)
c.88963A>T (p.Lys29655Ter)
c.88960A>T (p.Lys29654Ter)
c.86002A>T (p.Lys28668Ter)
c.67618A>T (p.Lys22540Ter)
c.89113A>T (p.Lys29705Ter)
c.89110A>T (p.Lys29704Ter)
c.88543A>T (p.Lys29515Ter)
c.85885A>T (p.Lys28629Ter)
c.85804A>T (p.Lys28602Ter)
c.67567A>T (p.Lys22523Ter)
c.57421A>T (p.Lys19141Ter)
2g.178546756T>CCA349471441TTN,TTN-AS1c.86968A>G (p.Lys28990Glu)
c.68053A>G (p.Lys22685Glu)
c.67852A>G (p.Lys22618Glu)
c.67477A>G (p.Lys22493Glu)
c.94672A>G (p.Lys31558Glu)
c.89749A>G (p.Lys29917Glu)
n.446+23120T>C
n.2043+4395T>C
c.93769A>G (p.Lys31257Glu)
c.67663A>G (p.Lys22555Glu)
c.67522A>G (p.Lys22508Glu)
c.93565A>G (p.Lys31189Glu)
c.88963A>G (p.Lys29655Glu)
c.88960A>G (p.Lys29654Glu)
c.86002A>G (p.Lys28668Glu)
c.67618A>G (p.Lys22540Glu)
c.89113A>G (p.Lys29705Glu)
c.89110A>G (p.Lys29704Glu)
c.88543A>G (p.Lys29515Glu)
c.85885A>G (p.Lys28629Glu)
c.85804A>G (p.Lys28602Glu)
c.67567A>G (p.Lys22523Glu)
c.57421A>G (p.Lys19141Glu)
2g.178546756T>GCA349471444TTN,TTN-AS1c.86968A>C (p.Lys28990Gln)
c.68053A>C (p.Lys22685Gln)
c.67852A>C (p.Lys22618Gln)
c.67477A>C (p.Lys22493Gln)
c.94672A>C (p.Lys31558Gln)
c.89749A>C (p.Lys29917Gln)
n.446+23120T>G
n.2043+4395T>G
c.93769A>C (p.Lys31257Gln)
c.67663A>C (p.Lys22555Gln)
c.67522A>C (p.Lys22508Gln)
c.93565A>C (p.Lys31189Gln)
c.88963A>C (p.Lys29655Gln)
c.88960A>C (p.Lys29654Gln)
c.86002A>C (p.Lys28668Gln)
c.67618A>C (p.Lys22540Gln)
c.89113A>C (p.Lys29705Gln)
c.89110A>C (p.Lys29704Gln)
c.88543A>C (p.Lys29515Gln)
c.85885A>C (p.Lys28629Gln)
c.85804A>C (p.Lys28602Gln)
c.67567A>C (p.Lys22523Gln)
c.57421A>C (p.Lys19141Gln)
2g.178546757C>ACA430242454TTN,TTN-AS1c.86967G>T (p.Leu28989=)
c.68052G>T (p.Leu22684=)
c.67851G>T (p.Leu22617=)
c.67476G>T (p.Leu22492=)
c.94671G>T (p.Leu31557=)
c.89748G>T (p.Leu29916=)
n.446+23121C>A
n.2043+4396C>A
c.93768G>T (p.Leu31256=)
c.67662G>T (p.Leu22554=)
c.67521G>T (p.Leu22507=)
c.93564G>T (p.Leu31188=)
c.88962G>T (p.Leu29654=)
c.88959G>T (p.Leu29653=)
c.86001G>T (p.Leu28667=)
c.67617G>T (p.Leu22539=)
c.89112G>T (p.Leu29704=)
c.89109G>T (p.Leu29703=)
c.88542G>T (p.Leu29514=)
c.85884G>T (p.Leu28628=)
c.85803G>T (p.Leu28601=)
c.67566G>T (p.Leu22522=)
c.57420G>T (p.Leu19140=)
2g.178546757C=CA1310523375TTN,TTN-AS1c.86967G= (p.Leu28989=)
c.68052G= (p.Leu22684=)
c.67851G= (p.Leu22617=)
c.67476G= (p.Leu22492=)
c.94671G= (p.Leu31557=)
c.89748G= (p.Leu29916=)
n.446+23121C=
n.2043+4396C=
c.93768G= (p.Leu31256=)
c.67662G= (p.Leu22554=)
c.67521G= (p.Leu22507=)
c.93564G= (p.Leu31188=)
c.88962G= (p.Leu29654=)
c.88959G= (p.Leu29653=)
c.86001G= (p.Leu28667=)
c.67617G= (p.Leu22539=)
c.89112G= (p.Leu29704=)
c.89109G= (p.Leu29703=)
c.88542G= (p.Leu29514=)
c.85884G= (p.Leu28628=)
c.85803G= (p.Leu28601=)
c.67566G= (p.Leu22522=)
c.57420G= (p.Leu19140=)
2g.178546757C>GCA430242453TTN,TTN-AS1c.86967G>C (p.Leu28989=)
c.68052G>C (p.Leu22684=)
c.67851G>C (p.Leu22617=)
c.67476G>C (p.Leu22492=)
c.94671G>C (p.Leu31557=)
c.89748G>C (p.Leu29916=)
n.446+23121C>G
n.2043+4396C>G
c.93768G>C (p.Leu31256=)
c.67662G>C (p.Leu22554=)
c.67521G>C (p.Leu22507=)
c.93564G>C (p.Leu31188=)
c.88962G>C (p.Leu29654=)
c.88959G>C (p.Leu29653=)
c.86001G>C (p.Leu28667=)
c.67617G>C (p.Leu22539=)
c.89112G>C (p.Leu29704=)
c.89109G>C (p.Leu29703=)
c.88542G>C (p.Leu29514=)
c.85884G>C (p.Leu28628=)
c.85803G>C (p.Leu28601=)
c.67566G>C (p.Leu22522=)
c.57420G>C (p.Leu19140=)
2g.178546757C>TCA430242452TTN,TTN-AS1c.86967G>A (p.Leu28989=)
c.68052G>A (p.Leu22684=)
c.67851G>A (p.Leu22617=)
c.67476G>A (p.Leu22492=)
c.94671G>A (p.Leu31557=)
c.89748G>A (p.Leu29916=)
n.446+23121C>T
n.2043+4396C>T
c.93768G>A (p.Leu31256=)
c.67662G>A (p.Leu22554=)
c.67521G>A (p.Leu22507=)
c.93564G>A (p.Leu31188=)
c.88962G>A (p.Leu29654=)
c.88959G>A (p.Leu29653=)
c.86001G>A (p.Leu28667=)
c.67617G>A (p.Leu22539=)
c.89112G>A (p.Leu29704=)
c.89109G>A (p.Leu29703=)
c.88542G>A (p.Leu29514=)
c.85884G>A (p.Leu28628=)
c.85803G>A (p.Leu28601=)
c.67566G>A (p.Leu22522=)
c.57420G>A (p.Leu19140=)
 dbSNP gnomAD v3 gnomAD v4
2g.178546758A>CCA349471446TTN,TTN-AS1c.86966T>G (p.Leu28989Arg)
c.68051T>G (p.Leu22684Arg)
c.67850T>G (p.Leu22617Arg)
c.67475T>G (p.Leu22492Arg)
c.94670T>G (p.Leu31557Arg)
c.89747T>G (p.Leu29916Arg)
n.446+23122A>C
n.2043+4397A>C
c.93767T>G (p.Leu31256Arg)
c.67661T>G (p.Leu22554Arg)
c.67520T>G (p.Leu22507Arg)
c.93563T>G (p.Leu31188Arg)
c.88961T>G (p.Leu29654Arg)
c.88958T>G (p.Leu29653Arg)
c.86000T>G (p.Leu28667Arg)
c.67616T>G (p.Leu22539Arg)
c.89111T>G (p.Leu29704Arg)
c.89108T>G (p.Leu29703Arg)
c.88541T>G (p.Leu29514Arg)
c.85883T>G (p.Leu28628Arg)
c.85802T>G (p.Leu28601Arg)
c.67565T>G (p.Leu22522Arg)
c.57419T>G (p.Leu19140Arg)
2g.178546758A>GCA349471449TTN,TTN-AS1c.86966T>C (p.Leu28989Pro)
c.68051T>C (p.Leu22684Pro)
c.67850T>C (p.Leu22617Pro)
c.67475T>C (p.Leu22492Pro)
c.94670T>C (p.Leu31557Pro)
c.89747T>C (p.Leu29916Pro)
n.446+23122A>G
n.2043+4397A>G
c.93767T>C (p.Leu31256Pro)
c.67661T>C (p.Leu22554Pro)
c.67520T>C (p.Leu22507Pro)
c.93563T>C (p.Leu31188Pro)
c.88961T>C (p.Leu29654Pro)
c.88958T>C (p.Leu29653Pro)
c.86000T>C (p.Leu28667Pro)
c.67616T>C (p.Leu22539Pro)
c.89111T>C (p.Leu29704Pro)
c.89108T>C (p.Leu29703Pro)
c.88541T>C (p.Leu29514Pro)
c.85883T>C (p.Leu28628Pro)
c.85802T>C (p.Leu28601Pro)
c.67565T>C (p.Leu22522Pro)
c.57419T>C (p.Leu19140Pro)
2g.178546758A>TCA349471450TTN,TTN-AS1c.86966T>A (p.Leu28989Gln)
c.68051T>A (p.Leu22684Gln)
c.67850T>A (p.Leu22617Gln)
c.67475T>A (p.Leu22492Gln)
c.94670T>A (p.Leu31557Gln)
c.89747T>A (p.Leu29916Gln)
n.446+23122A>T
n.2043+4397A>T
c.93767T>A (p.Leu31256Gln)
c.67661T>A (p.Leu22554Gln)
c.67520T>A (p.Leu22507Gln)
c.93563T>A (p.Leu31188Gln)
c.88961T>A (p.Leu29654Gln)
c.88958T>A (p.Leu29653Gln)
c.86000T>A (p.Leu28667Gln)
c.67616T>A (p.Leu22539Gln)
c.89111T>A (p.Leu29704Gln)
c.89108T>A (p.Leu29703Gln)
c.88541T>A (p.Leu29514Gln)
c.85883T>A (p.Leu28628Gln)
c.85802T>A (p.Leu28601Gln)
c.67565T>A (p.Leu22522Gln)
c.57419T>A (p.Leu19140Gln)
2g.178546759G>ACA430242455TTN,TTN-AS1c.86965C>T (p.Leu28989=)
c.68050C>T (p.Leu22684=)
c.67849C>T (p.Leu22617=)
c.67474C>T (p.Leu22492=)
c.94669C>T (p.Leu31557=)
c.89746C>T (p.Leu29916=)
n.446+23123G>A
n.2043+4398G>A
c.93766C>T (p.Leu31256=)
c.67660C>T (p.Leu22554=)
c.67519C>T (p.Leu22507=)
c.93562C>T (p.Leu31188=)
c.88960C>T (p.Leu29654=)
c.88957C>T (p.Leu29653=)
c.85999C>T (p.Leu28667=)
c.67615C>T (p.Leu22539=)
c.89110C>T (p.Leu29704=)
c.89107C>T (p.Leu29703=)
c.88540C>T (p.Leu29514=)
c.85882C>T (p.Leu28628=)
c.85801C>T (p.Leu28601=)
c.67564C>T (p.Leu22522=)
c.57418C>T (p.Leu19140=)
2g.178546759G>CCA349471460TTN,TTN-AS1c.86965C>G (p.Leu28989Val)
c.68050C>G (p.Leu22684Val)
c.67849C>G (p.Leu22617Val)
c.67474C>G (p.Leu22492Val)
c.94669C>G (p.Leu31557Val)
c.89746C>G (p.Leu29916Val)
n.446+23123G>C
n.2043+4398G>C
c.93766C>G (p.Leu31256Val)
c.67660C>G (p.Leu22554Val)
c.67519C>G (p.Leu22507Val)
c.93562C>G (p.Leu31188Val)
c.88960C>G (p.Leu29654Val)
c.88957C>G (p.Leu29653Val)
c.85999C>G (p.Leu28667Val)
c.67615C>G (p.Leu22539Val)
c.89110C>G (p.Leu29704Val)
c.89107C>G (p.Leu29703Val)
c.88540C>G (p.Leu29514Val)
c.85882C>G (p.Leu28628Val)
c.85801C>G (p.Leu28601Val)
c.67564C>G (p.Leu22522Val)
c.57418C>G (p.Leu19140Val)
2g.178546759G>TCA349471466TTN,TTN-AS1c.86965C>A (p.Leu28989Met)
c.68050C>A (p.Leu22684Met)
c.67849C>A (p.Leu22617Met)
c.67474C>A (p.Leu22492Met)
c.94669C>A (p.Leu31557Met)
c.89746C>A (p.Leu29916Met)
n.446+23123G>T
n.2043+4398G>T
c.93766C>A (p.Leu31256Met)
c.67660C>A (p.Leu22554Met)
c.67519C>A (p.Leu22507Met)
c.93562C>A (p.Leu31188Met)
c.88960C>A (p.Leu29654Met)
c.88957C>A (p.Leu29653Met)
c.85999C>A (p.Leu28667Met)
c.67615C>A (p.Leu22539Met)
c.89110C>A (p.Leu29704Met)
c.89107C>A (p.Leu29703Met)
c.88540C>A (p.Leu29514Met)
c.85882C>A (p.Leu28628Met)
c.85801C>A (p.Leu28601Met)
c.67564C>A (p.Leu22522Met)
c.57418C>A (p.Leu19140Met)
2g.178546760C>ACA349471486TTN,TTN-AS1c.86964G>T (p.Trp28988Cys)
c.68049G>T (p.Trp22683Cys)
c.67848G>T (p.Trp22616Cys)
c.67473G>T (p.Trp22491Cys)
c.94668G>T (p.Trp31556Cys)
c.89745G>T (p.Trp29915Cys)
n.446+23124C>A
n.2043+4399C>A
c.93765G>T (p.Trp31255Cys)
c.67659G>T (p.Trp22553Cys)
c.67518G>T (p.Trp22506Cys)
c.93561G>T (p.Trp31187Cys)
c.88959G>T (p.Trp29653Cys)
c.88956G>T (p.Trp29652Cys)
c.85998G>T (p.Trp28666Cys)
c.67614G>T (p.Trp22538Cys)
c.89109G>T (p.Trp29703Cys)
c.89106G>T (p.Trp29702Cys)
c.88539G>T (p.Trp29513Cys)
c.85881G>T (p.Trp28627Cys)
c.85800G>T (p.Trp28600Cys)
c.67563G>T (p.Trp22521Cys)
c.57417G>T (p.Trp19139Cys)
2g.178546760C>GCA349471488TTN,TTN-AS1c.86964G>C (p.Trp28988Cys)
c.68049G>C (p.Trp22683Cys)
c.67848G>C (p.Trp22616Cys)
c.67473G>C (p.Trp22491Cys)
c.94668G>C (p.Trp31556Cys)
c.89745G>C (p.Trp29915Cys)
n.446+23124C>G
n.2043+4399C>G
c.93765G>C (p.Trp31255Cys)
c.67659G>C (p.Trp22553Cys)
c.67518G>C (p.Trp22506Cys)
c.93561G>C (p.Trp31187Cys)
c.88959G>C (p.Trp29653Cys)
c.88956G>C (p.Trp29652Cys)
c.85998G>C (p.Trp28666Cys)
c.67614G>C (p.Trp22538Cys)
c.89109G>C (p.Trp29703Cys)
c.89106G>C (p.Trp29702Cys)
c.88539G>C (p.Trp29513Cys)
c.85881G>C (p.Trp28627Cys)
c.85800G>C (p.Trp28600Cys)
c.67563G>C (p.Trp22521Cys)
c.57417G>C (p.Trp19139Cys)
2g.178546760C>TCA349471477TTN,TTN-AS1c.86964G>A (p.Trp28988Ter)
c.68049G>A (p.Trp22683Ter)
c.67848G>A (p.Trp22616Ter)
c.67473G>A (p.Trp22491Ter)
c.94668G>A (p.Trp31556Ter)
c.89745G>A (p.Trp29915Ter)
n.446+23124C>T
n.2043+4399C>T
c.93765G>A (p.Trp31255Ter)
c.67659G>A (p.Trp22553Ter)
c.67518G>A (p.Trp22506Ter)
c.93561G>A (p.Trp31187Ter)
c.88959G>A (p.Trp29653Ter)
c.88956G>A (p.Trp29652Ter)
c.85998G>A (p.Trp28666Ter)
c.67614G>A (p.Trp22538Ter)
c.89109G>A (p.Trp29703Ter)
c.89106G>A (p.Trp29702Ter)
c.88539G>A (p.Trp29513Ter)
c.85881G>A (p.Trp28627Ter)
c.85800G>A (p.Trp28600Ter)
c.67563G>A (p.Trp22521Ter)
c.57417G>A (p.Trp19139Ter)
2g.178546761C>ACA60972554TTN,TTN-AS1c.86963G>T (p.Trp28988Leu)
c.68048G>T (p.Trp22683Leu)
c.67847G>T (p.Trp22616Leu)
c.67472G>T (p.Trp22491Leu)
c.94667G>T (p.Trp31556Leu)
c.89744G>T (p.Trp29915Leu)
n.446+23125C>A
n.2043+4400C>A
c.93764G>T (p.Trp31255Leu)
c.67658G>T (p.Trp22553Leu)
c.67517G>T (p.Trp22506Leu)
c.93560G>T (p.Trp31187Leu)
c.88958G>T (p.Trp29653Leu)
c.88955G>T (p.Trp29652Leu)
c.85997G>T (p.Trp28666Leu)
c.67613G>T (p.Trp22538Leu)
c.89108G>T (p.Trp29703Leu)
c.89105G>T (p.Trp29702Leu)
c.88538G>T (p.Trp29513Leu)
c.85880G>T (p.Trp28627Leu)
c.85799G>T (p.Trp28600Leu)
c.67562G>T (p.Trp22521Leu)
c.57416G>T (p.Trp19139Leu)
 dbSNP
2g.178546761C=CA1310523377TTN,TTN-AS1c.86963G= (p.Trp28988=)
c.68048G= (p.Trp22683=)
c.67847G= (p.Trp22616=)
c.67472G= (p.Trp22491=)
c.94667G= (p.Trp31556=)
c.89744G= (p.Trp29915=)
n.446+23125C=
n.2043+4400C=
c.93764G= (p.Trp31255=)
c.67658G= (p.Trp22553=)
c.67517G= (p.Trp22506=)
c.93560G= (p.Trp31187=)
c.88958G= (p.Trp29653=)
c.88955G= (p.Trp29652=)
c.85997G= (p.Trp28666=)
c.67613G= (p.Trp22538=)
c.89108G= (p.Trp29703=)
c.89105G= (p.Trp29702=)
c.88538G= (p.Trp29513=)
c.85880G= (p.Trp28627=)
c.85799G= (p.Trp28600=)
c.67562G= (p.Trp22521=)
c.57416G= (p.Trp19139=)
2g.178546761C>GCA349471499TTN,TTN-AS1c.86963G>C (p.Trp28988Ser)
c.68048G>C (p.Trp22683Ser)
c.67847G>C (p.Trp22616Ser)
c.67472G>C (p.Trp22491Ser)
c.94667G>C (p.Trp31556Ser)
c.89744G>C (p.Trp29915Ser)
n.446+23125C>G
n.2043+4400C>G
c.93764G>C (p.Trp31255Ser)
c.67658G>C (p.Trp22553Ser)
c.67517G>C (p.Trp22506Ser)
c.93560G>C (p.Trp31187Ser)
c.88958G>C (p.Trp29653Ser)
c.88955G>C (p.Trp29652Ser)
c.85997G>C (p.Trp28666Ser)
c.67613G>C (p.Trp22538Ser)
c.89108G>C (p.Trp29703Ser)
c.89105G>C (p.Trp29702Ser)
c.88538G>C (p.Trp29513Ser)
c.85880G>C (p.Trp28627Ser)
c.85799G>C (p.Trp28600Ser)
c.67562G>C (p.Trp22521Ser)
c.57416G>C (p.Trp19139Ser)
2g.178546761C>TCA349471501TTN,TTN-AS1c.86963G>A (p.Trp28988Ter)
c.68048G>A (p.Trp22683Ter)
c.67847G>A (p.Trp22616Ter)
c.67472G>A (p.Trp22491Ter)
c.94667G>A (p.Trp31556Ter)
c.89744G>A (p.Trp29915Ter)
n.446+23125C>T
n.2043+4400C>T
c.93764G>A (p.Trp31255Ter)
c.67658G>A (p.Trp22553Ter)
c.67517G>A (p.Trp22506Ter)
c.93560G>A (p.Trp31187Ter)
c.88958G>A (p.Trp29653Ter)
c.88955G>A (p.Trp29652Ter)
c.85997G>A (p.Trp28666Ter)
c.67613G>A (p.Trp22538Ter)
c.89108G>A (p.Trp29703Ter)
c.89105G>A (p.Trp29702Ter)
c.88538G>A (p.Trp29513Ter)
c.85880G>A (p.Trp28627Ter)
c.85799G>A (p.Trp28600Ter)
c.67562G>A (p.Trp22521Ter)
c.57416G>A (p.Trp19139Ter)
 ClinVar dbSNP
2g.178546762A>CCA349471505TTN,TTN-AS1c.86962T>G (p.Trp28988Gly)
c.68047T>G (p.Trp22683Gly)
c.67846T>G (p.Trp22616Gly)
c.67471T>G (p.Trp22491Gly)
c.94666T>G (p.Trp31556Gly)
c.89743T>G (p.Trp29915Gly)
n.446+23126A>C
n.2043+4401A>C
c.93763T>G (p.Trp31255Gly)
c.67657T>G (p.Trp22553Gly)
c.67516T>G (p.Trp22506Gly)
c.93559T>G (p.Trp31187Gly)
c.88957T>G (p.Trp29653Gly)
c.88954T>G (p.Trp29652Gly)
c.85996T>G (p.Trp28666Gly)
c.67612T>G (p.Trp22538Gly)
c.89107T>G (p.Trp29703Gly)
c.89104T>G (p.Trp29702Gly)
c.88537T>G (p.Trp29513Gly)
c.85879T>G (p.Trp28627Gly)
c.85798T>G (p.Trp28600Gly)
c.67561T>G (p.Trp22521Gly)
c.57415T>G (p.Trp19139Gly)
 gnomAD v4
2g.178546762A>GCA349471512TTN,TTN-AS1c.86962T>C (p.Trp28988Arg)
c.68047T>C (p.Trp22683Arg)
c.67846T>C (p.Trp22616Arg)
c.67471T>C (p.Trp22491Arg)
c.94666T>C (p.Trp31556Arg)
c.89743T>C (p.Trp29915Arg)
n.446+23126A>G
n.2043+4401A>G
c.93763T>C (p.Trp31255Arg)
c.67657T>C (p.Trp22553Arg)
c.67516T>C (p.Trp22506Arg)
c.93559T>C (p.Trp31187Arg)
c.88957T>C (p.Trp29653Arg)
c.88954T>C (p.Trp29652Arg)
c.85996T>C (p.Trp28666Arg)
c.67612T>C (p.Trp22538Arg)
c.89107T>C (p.Trp29703Arg)
c.89104T>C (p.Trp29702Arg)
c.88537T>C (p.Trp29513Arg)
c.85879T>C (p.Trp28627Arg)
c.85798T>C (p.Trp28600Arg)
c.67561T>C (p.Trp22521Arg)
c.57415T>C (p.Trp19139Arg)
2g.178546762A>TCA349471523TTN,TTN-AS1c.86962T>A (p.Trp28988Arg)
c.68047T>A (p.Trp22683Arg)
c.67846T>A (p.Trp22616Arg)
c.67471T>A (p.Trp22491Arg)
c.94666T>A (p.Trp31556Arg)
c.89743T>A (p.Trp29915Arg)
n.446+23126A>T
n.2043+4401A>T
c.93763T>A (p.Trp31255Arg)
c.67657T>A (p.Trp22553Arg)
c.67516T>A (p.Trp22506Arg)
c.93559T>A (p.Trp31187Arg)
c.88957T>A (p.Trp29653Arg)
c.88954T>A (p.Trp29652Arg)
c.85996T>A (p.Trp28666Arg)
c.67612T>A (p.Trp22538Arg)
c.89107T>A (p.Trp29703Arg)
c.89104T>A (p.Trp29702Arg)
c.88537T>A (p.Trp29513Arg)
c.85879T>A (p.Trp28627Arg)
c.85798T>A (p.Trp28600Arg)
c.67561T>A (p.Trp22521Arg)
c.57415T>A (p.Trp19139Arg)
2g.178546763G>ACA1987082TTN,TTN-AS1c.86961C>T (p.Arg28987=)
c.68046C>T (p.Arg22682=)
c.67845C>T (p.Arg22615=)
c.67470C>T (p.Arg22490=)
c.94665C>T (p.Arg31555=)
c.89742C>T (p.Arg29914=)
n.446+23127G>A
n.2043+4402G>A
c.93762C>T (p.Arg31254=)
c.67656C>T (p.Arg22552=)
c.67515C>T (p.Arg22505=)
c.93558C>T (p.Arg31186=)
c.88956C>T (p.Arg29652=)
c.88953C>T (p.Arg29651=)
c.85995C>T (p.Arg28665=)
c.67611C>T (p.Arg22537=)
c.89106C>T (p.Arg29702=)
c.89103C>T (p.Arg29701=)
c.88536C>T (p.Arg29512=)
c.85878C>T (p.Arg28626=)
c.85797C>T (p.Arg28599=)
c.67560C>T (p.Arg22520=)
c.57414C>T (p.Arg19138=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546763G>CCA430242457TTN,TTN-AS1c.86961C>G (p.Arg28987=)
c.68046C>G (p.Arg22682=)
c.67845C>G (p.Arg22615=)
c.67470C>G (p.Arg22490=)
c.94665C>G (p.Arg31555=)
c.89742C>G (p.Arg29914=)
n.446+23127G>C
n.2043+4402G>C
c.93762C>G (p.Arg31254=)
c.67656C>G (p.Arg22552=)
c.67515C>G (p.Arg22505=)
c.93558C>G (p.Arg31186=)
c.88956C>G (p.Arg29652=)
c.88953C>G (p.Arg29651=)
c.85995C>G (p.Arg28665=)
c.67611C>G (p.Arg22537=)
c.89106C>G (p.Arg29702=)
c.89103C>G (p.Arg29701=)
c.88536C>G (p.Arg29512=)
c.85878C>G (p.Arg28626=)
c.85797C>G (p.Arg28599=)
c.67560C>G (p.Arg22520=)
c.57414C>G (p.Arg19138=)
2g.178546763G=CA1310523379TTN,TTN-AS1c.86961C= (p.Arg28987=)
c.68046C= (p.Arg22682=)
c.67845C= (p.Arg22615=)
c.67470C= (p.Arg22490=)
c.94665C= (p.Arg31555=)
c.89742C= (p.Arg29914=)
n.446+23127G=
n.2043+4402G=
c.93762C= (p.Arg31254=)
c.67656C= (p.Arg22552=)
c.67515C= (p.Arg22505=)
c.93558C= (p.Arg31186=)
c.88956C= (p.Arg29652=)
c.88953C= (p.Arg29651=)
c.85995C= (p.Arg28665=)
c.67611C= (p.Arg22537=)
c.89106C= (p.Arg29702=)
c.89103C= (p.Arg29701=)
c.88536C= (p.Arg29512=)
c.85878C= (p.Arg28626=)
c.85797C= (p.Arg28599=)
c.67560C= (p.Arg22520=)
c.57414C= (p.Arg19138=)
2g.178546763G>TCA430242456TTN,TTN-AS1c.86961C>A (p.Arg28987=)
c.68046C>A (p.Arg22682=)
c.67845C>A (p.Arg22615=)
c.67470C>A (p.Arg22490=)
c.94665C>A (p.Arg31555=)
c.89742C>A (p.Arg29914=)
n.446+23127G>T
n.2043+4402G>T
c.93762C>A (p.Arg31254=)
c.67656C>A (p.Arg22552=)
c.67515C>A (p.Arg22505=)
c.93558C>A (p.Arg31186=)
c.88956C>A (p.Arg29652=)
c.88953C>A (p.Arg29651=)
c.85995C>A (p.Arg28665=)
c.67611C>A (p.Arg22537=)
c.89106C>A (p.Arg29702=)
c.89103C>A (p.Arg29701=)
c.88536C>A (p.Arg29512=)
c.85878C>A (p.Arg28626=)
c.85797C>A (p.Arg28599=)
c.67560C>A (p.Arg22520=)
c.57414C>A (p.Arg19138=)
2g.178546764C>ACA349471540TTN,TTN-AS1c.86960G>T (p.Arg28987Leu)
c.68045G>T (p.Arg22682Leu)
c.67844G>T (p.Arg22615Leu)
c.67469G>T (p.Arg22490Leu)
c.94664G>T (p.Arg31555Leu)
c.89741G>T (p.Arg29914Leu)
n.446+23128C>A
n.2043+4403C>A
c.93761G>T (p.Arg31254Leu)
c.67655G>T (p.Arg22552Leu)
c.67514G>T (p.Arg22505Leu)
c.93557G>T (p.Arg31186Leu)
c.88955G>T (p.Arg29652Leu)
c.88952G>T (p.Arg29651Leu)
c.85994G>T (p.Arg28665Leu)
c.67610G>T (p.Arg22537Leu)
c.89105G>T (p.Arg29702Leu)
c.89102G>T (p.Arg29701Leu)
c.88535G>T (p.Arg29512Leu)
c.85877G>T (p.Arg28626Leu)
c.85796G>T (p.Arg28599Leu)
c.67559G>T (p.Arg22520Leu)
c.57413G>T (p.Arg19138Leu)
 dbSNP gnomAD v4
2g.178546764C=CA1310523380TTN,TTN-AS1c.86960G= (p.Arg28987=)
c.68045G= (p.Arg22682=)
c.67844G= (p.Arg22615=)
c.67469G= (p.Arg22490=)
c.94664G= (p.Arg31555=)
c.89741G= (p.Arg29914=)
n.446+23128C=
n.2043+4403C=
c.93761G= (p.Arg31254=)
c.67655G= (p.Arg22552=)
c.67514G= (p.Arg22505=)
c.93557G= (p.Arg31186=)
c.88955G= (p.Arg29652=)
c.88952G= (p.Arg29651=)
c.85994G= (p.Arg28665=)
c.67610G= (p.Arg22537=)
c.89105G= (p.Arg29702=)
c.89102G= (p.Arg29701=)
c.88535G= (p.Arg29512=)
c.85877G= (p.Arg28626=)
c.85796G= (p.Arg28599=)
c.67559G= (p.Arg22520=)
c.57413G= (p.Arg19138=)
2g.178546764C>GCA349471548TTN,TTN-AS1c.86960G>C (p.Arg28987Pro)
c.68045G>C (p.Arg22682Pro)
c.67844G>C (p.Arg22615Pro)
c.67469G>C (p.Arg22490Pro)
c.94664G>C (p.Arg31555Pro)
c.89741G>C (p.Arg29914Pro)
n.446+23128C>G
n.2043+4403C>G
c.93761G>C (p.Arg31254Pro)
c.67655G>C (p.Arg22552Pro)
c.67514G>C (p.Arg22505Pro)
c.93557G>C (p.Arg31186Pro)
c.88955G>C (p.Arg29652Pro)
c.88952G>C (p.Arg29651Pro)
c.85994G>C (p.Arg28665Pro)
c.67610G>C (p.Arg22537Pro)
c.89105G>C (p.Arg29702Pro)
c.89102G>C (p.Arg29701Pro)
c.88535G>C (p.Arg29512Pro)
c.85877G>C (p.Arg28626Pro)
c.85796G>C (p.Arg28599Pro)
c.67559G>C (p.Arg22520Pro)
c.57413G>C (p.Arg19138Pro)
2g.178546764C>TCA178427TTN,TTN-AS1c.86960G>A (p.Arg28987His)
c.68045G>A (p.Arg22682His)
c.67844G>A (p.Arg22615His)
c.67469G>A (p.Arg22490His)
c.94664G>A (p.Arg31555His)
c.89741G>A (p.Arg29914His)
n.446+23128C>T
n.2043+4403C>T
c.93761G>A (p.Arg31254His)
c.67655G>A (p.Arg22552His)
c.67514G>A (p.Arg22505His)
c.93557G>A (p.Arg31186His)
c.88955G>A (p.Arg29652His)
c.88952G>A (p.Arg29651His)
c.85994G>A (p.Arg28665His)
c.67610G>A (p.Arg22537His)
c.89105G>A (p.Arg29702His)
c.89102G>A (p.Arg29701His)
c.88535G>A (p.Arg29512His)
c.85877G>A (p.Arg28626His)
c.85796G>A (p.Arg28599His)
c.67559G>A (p.Arg22520His)
c.57413G>A (p.Arg19138His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546765G>ACA243070TTN,TTN-AS1c.86959C>T (p.Arg28987Cys)
c.68044C>T (p.Arg22682Cys)
c.67843C>T (p.Arg22615Cys)
c.67468C>T (p.Arg22490Cys)
c.94663C>T (p.Arg31555Cys)
c.89740C>T (p.Arg29914Cys)
n.446+23129G>A
n.2043+4404G>A
c.93760C>T (p.Arg31254Cys)
c.67654C>T (p.Arg22552Cys)
c.67513C>T (p.Arg22505Cys)
c.93556C>T (p.Arg31186Cys)
c.88954C>T (p.Arg29652Cys)
c.88951C>T (p.Arg29651Cys)
c.85993C>T (p.Arg28665Cys)
c.67609C>T (p.Arg22537Cys)
c.89104C>T (p.Arg29702Cys)
c.89101C>T (p.Arg29701Cys)
c.88534C>T (p.Arg29512Cys)
c.85876C>T (p.Arg28626Cys)
c.85795C>T (p.Arg28599Cys)
c.67558C>T (p.Arg22520Cys)
c.57412C>T (p.Arg19138Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546765G>CCA1987083TTN,TTN-AS1c.86959C>G (p.Arg28987Gly)
c.68044C>G (p.Arg22682Gly)
c.67843C>G (p.Arg22615Gly)
c.67468C>G (p.Arg22490Gly)
c.94663C>G (p.Arg31555Gly)
c.89740C>G (p.Arg29914Gly)
n.446+23129G>C
n.2043+4404G>C
c.93760C>G (p.Arg31254Gly)
c.67654C>G (p.Arg22552Gly)
c.67513C>G (p.Arg22505Gly)
c.93556C>G (p.Arg31186Gly)
c.88954C>G (p.Arg29652Gly)
c.88951C>G (p.Arg29651Gly)
c.85993C>G (p.Arg28665Gly)
c.67609C>G (p.Arg22537Gly)
c.89104C>G (p.Arg29702Gly)
c.89101C>G (p.Arg29701Gly)
c.88534C>G (p.Arg29512Gly)
c.85876C>G (p.Arg28626Gly)
c.85795C>G (p.Arg28599Gly)
c.67558C>G (p.Arg22520Gly)
c.57412C>G (p.Arg19138Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178546765G=CA1310523383TTN,TTN-AS1c.86959C= (p.Arg28987=)
c.68044C= (p.Arg22682=)
c.67843C= (p.Arg22615=)
c.67468C= (p.Arg22490=)
c.94663C= (p.Arg31555=)
c.89740C= (p.Arg29914=)
n.446+23129G=
n.2043+4404G=
c.93760C= (p.Arg31254=)
c.67654C= (p.Arg22552=)
c.67513C= (p.Arg22505=)
c.93556C= (p.Arg31186=)
c.88954C= (p.Arg29652=)
c.88951C= (p.Arg29651=)
c.85993C= (p.Arg28665=)
c.67609C= (p.Arg22537=)
c.89104C= (p.Arg29702=)
c.89101C= (p.Arg29701=)
c.88534C= (p.Arg29512=)
c.85876C= (p.Arg28626=)
c.85795C= (p.Arg28599=)
c.67558C= (p.Arg22520=)
c.57412C= (p.Arg19138=)
2g.178546765G>TCA349471554TTN,TTN-AS1c.86959C>A (p.Arg28987Ser)
c.68044C>A (p.Arg22682Ser)
c.67843C>A (p.Arg22615Ser)
c.67468C>A (p.Arg22490Ser)
c.94663C>A (p.Arg31555Ser)
c.89740C>A (p.Arg29914Ser)
n.446+23129G>T
n.2043+4404G>T
c.93760C>A (p.Arg31254Ser)
c.67654C>A (p.Arg22552Ser)
c.67513C>A (p.Arg22505Ser)
c.93556C>A (p.Arg31186Ser)
c.88954C>A (p.Arg29652Ser)
c.88951C>A (p.Arg29651Ser)
c.85993C>A (p.Arg28665Ser)
c.67609C>A (p.Arg22537Ser)
c.89104C>A (p.Arg29702Ser)
c.89101C>A (p.Arg29701Ser)
c.88534C>A (p.Arg29512Ser)
c.85876C>A (p.Arg28626Ser)
c.85795C>A (p.Arg28599Ser)
c.67558C>A (p.Arg22520Ser)
c.57412C>A (p.Arg19138Ser)
 gnomAD v4
2g.178546766A>CCA430242458TTN,TTN-AS1c.86958T>G (p.Gly28986=)
c.68043T>G (p.Gly22681=)
c.67842T>G (p.Gly22614=)
c.67467T>G (p.Gly22489=)
c.94662T>G (p.Gly31554=)
c.89739T>G (p.Gly29913=)
n.446+23130A>C
n.2043+4405A>C
c.93759T>G (p.Gly31253=)
c.67653T>G (p.Gly22551=)
c.67512T>G (p.Gly22504=)
c.93555T>G (p.Gly31185=)
c.88953T>G (p.Gly29651=)
c.88950T>G (p.Gly29650=)
c.85992T>G (p.Gly28664=)
c.67608T>G (p.Gly22536=)
c.89103T>G (p.Gly29701=)
c.89100T>G (p.Gly29700=)
c.88533T>G (p.Gly29511=)
c.85875T>G (p.Gly28625=)
c.85794T>G (p.Gly28598=)
c.67557T>G (p.Gly22519=)
c.57411T>G (p.Gly19137=)
2g.178546766A>GCA430242459TTN,TTN-AS1c.86958T>C (p.Gly28986=)
c.68043T>C (p.Gly22681=)
c.67842T>C (p.Gly22614=)
c.67467T>C (p.Gly22489=)
c.94662T>C (p.Gly31554=)
c.89739T>C (p.Gly29913=)
n.446+23130A>G
n.2043+4405A>G
c.93759T>C (p.Gly31253=)
c.67653T>C (p.Gly22551=)
c.67512T>C (p.Gly22504=)
c.93555T>C (p.Gly31185=)
c.88953T>C (p.Gly29651=)
c.88950T>C (p.Gly29650=)
c.85992T>C (p.Gly28664=)
c.67608T>C (p.Gly22536=)
c.89103T>C (p.Gly29701=)
c.89100T>C (p.Gly29700=)
c.88533T>C (p.Gly29511=)
c.85875T>C (p.Gly28625=)
c.85794T>C (p.Gly28598=)
c.67557T>C (p.Gly22519=)
c.57411T>C (p.Gly19137=)
 gnomAD v4
2g.178546766A>TCA430242460TTN,TTN-AS1c.86958T>A (p.Gly28986=)
c.68043T>A (p.Gly22681=)
c.67842T>A (p.Gly22614=)
c.67467T>A (p.Gly22489=)
c.94662T>A (p.Gly31554=)
c.89739T>A (p.Gly29913=)
n.446+23130A>T
n.2043+4405A>T
c.93759T>A (p.Gly31253=)
c.67653T>A (p.Gly22551=)
c.67512T>A (p.Gly22504=)
c.93555T>A (p.Gly31185=)
c.88953T>A (p.Gly29651=)
c.88950T>A (p.Gly29650=)
c.85992T>A (p.Gly28664=)
c.67608T>A (p.Gly22536=)
c.89103T>A (p.Gly29701=)
c.89100T>A (p.Gly29700=)
c.88533T>A (p.Gly29511=)
c.85875T>A (p.Gly28625=)
c.85794T>A (p.Gly28598=)
c.67557T>A (p.Gly22519=)
c.57411T>A (p.Gly19137=)
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)

Number of alleles fetched