Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178552654_178552656dupCA761287210TTN,TTN-AS1c.82541_82543dup (p.Ile27514_Ser27515insIle)
c.63626_63628dup (p.Ile21209_Ser21210insIle)
c.63425_63427dup (p.Ile21142_Ser21143insIle)
c.63050_63052dup (p.Ile21017_Ser21018insIle)
c.90245_90247dup (p.Ile30082_Ser30083insIle)
c.85322_85324dup (p.Ile28441_Ser28442insIle)
n.447-18646_447-18644dup
n.2043+10293_2043+10295dup
c.89342_89344dup (p.Ile29781_Ser29782insIle)
c.63236_63238dup (p.Ile21079_Ser21080insIle)
c.63095_63097dup (p.Ile21032_Ser21033insIle)
c.89138_89140dup (p.Ile29713_Ser29714insIle)
c.84536_84538dup (p.Ile28179_Ser28180insIle)
c.84533_84535dup (p.Ile28178_Ser28179insIle)
c.81575_81577dup (p.Ile27192_Ser27193insIle)
c.63191_63193dup (p.Ile21064_Ser21065insIle)
c.84686_84688dup (p.Ile28229_Ser28230insIle)
c.84683_84685dup (p.Ile28228_Ser28229insIle)
c.84116_84118dup (p.Ile28039_Ser28040insIle)
c.81458_81460dup (p.Ile27153_Ser27154insIle)
c.81377_81379dup (p.Ile27126_Ser27127insIle)
c.63140_63142dup (p.Ile21047_Ser21048insIle)
c.52994_52996dup (p.Ile17665_Ser17666insIle)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178552654T>ACA430245585TTN,TTN-AS1c.82542A>T (p.Ile27514=)
c.63627A>T (p.Ile21209=)
c.63426A>T (p.Ile21142=)
c.63051A>T (p.Ile21017=)
c.90246A>T (p.Ile30082=)
c.85323A>T (p.Ile28441=)
n.447-18646T>A
n.2043+10293T>A
c.89343A>T (p.Ile29781=)
c.63237A>T (p.Ile21079=)
c.63096A>T (p.Ile21032=)
c.89139A>T (p.Ile29713=)
c.84537A>T (p.Ile28179=)
c.84534A>T (p.Ile28178=)
c.81576A>T (p.Ile27192=)
c.63192A>T (p.Ile21064=)
c.84687A>T (p.Ile28229=)
c.84684A>T (p.Ile28228=)
c.84117A>T (p.Ile28039=)
c.81459A>T (p.Ile27153=)
c.81378A>T (p.Ile27126=)
c.63141A>T (p.Ile21047=)
c.52995A>T (p.Ile17665=)
2g.178552654T>CCA10587452TTN,TTN-AS1c.82542A>G (p.Ile27514Met)
c.63627A>G (p.Ile21209Met)
c.63426A>G (p.Ile21142Met)
c.63051A>G (p.Ile21017Met)
c.90246A>G (p.Ile30082Met)
c.85323A>G (p.Ile28441Met)
n.447-18646T>C
n.2043+10293T>C
c.89343A>G (p.Ile29781Met)
c.63237A>G (p.Ile21079Met)
c.63096A>G (p.Ile21032Met)
c.89139A>G (p.Ile29713Met)
c.84537A>G (p.Ile28179Met)
c.84534A>G (p.Ile28178Met)
c.81576A>G (p.Ile27192Met)
c.63192A>G (p.Ile21064Met)
c.84687A>G (p.Ile28229Met)
c.84684A>G (p.Ile28228Met)
c.84117A>G (p.Ile28039Met)
c.81459A>G (p.Ile27153Met)
c.81378A>G (p.Ile27126Met)
c.63141A>G (p.Ile21047Met)
c.52995A>G (p.Ile17665Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178552654T>GCA430245586TTN,TTN-AS1c.82542A>C (p.Ile27514=)
c.63627A>C (p.Ile21209=)
c.63426A>C (p.Ile21142=)
c.63051A>C (p.Ile21017=)
c.90246A>C (p.Ile30082=)
c.85323A>C (p.Ile28441=)
n.447-18646T>G
n.2043+10293T>G
c.89343A>C (p.Ile29781=)
c.63237A>C (p.Ile21079=)
c.63096A>C (p.Ile21032=)
c.89139A>C (p.Ile29713=)
c.84537A>C (p.Ile28179=)
c.84534A>C (p.Ile28178=)
c.81576A>C (p.Ile27192=)
c.63192A>C (p.Ile21064=)
c.84687A>C (p.Ile28229=)
c.84684A>C (p.Ile28228=)
c.84117A>C (p.Ile28039=)
c.81459A>C (p.Ile27153=)
c.81378A>C (p.Ile27126=)
c.63141A>C (p.Ile21047=)
c.52995A>C (p.Ile17665=)
2g.178552654T=CA1310522176TTN,TTN-AS1c.82542A= (p.Ile27514=)
c.63627A= (p.Ile21209=)
c.63426A= (p.Ile21142=)
c.63051A= (p.Ile21017=)
c.90246A= (p.Ile30082=)
c.85323A= (p.Ile28441=)
n.447-18646T=
n.2043+10293T=
c.89343A= (p.Ile29781=)
c.63237A= (p.Ile21079=)
c.63096A= (p.Ile21032=)
c.89139A= (p.Ile29713=)
c.84537A= (p.Ile28179=)
c.84534A= (p.Ile28178=)
c.81576A= (p.Ile27192=)
c.63192A= (p.Ile21064=)
c.84687A= (p.Ile28229=)
c.84684A= (p.Ile28228=)
c.84117A= (p.Ile28039=)
c.81459A= (p.Ile27153=)
c.81378A= (p.Ile27126=)
c.63141A= (p.Ile21047=)
c.52995A= (p.Ile17665=)
2g.178552655A>CCA349512577TTN,TTN-AS1c.82541T>G (p.Ile27514Arg)
c.63626T>G (p.Ile21209Arg)
c.63425T>G (p.Ile21142Arg)
c.63050T>G (p.Ile21017Arg)
c.90245T>G (p.Ile30082Arg)
c.85322T>G (p.Ile28441Arg)
n.447-18645A>C
n.2043+10294A>C
c.89342T>G (p.Ile29781Arg)
c.63236T>G (p.Ile21079Arg)
c.63095T>G (p.Ile21032Arg)
c.89138T>G (p.Ile29713Arg)
c.84536T>G (p.Ile28179Arg)
c.84533T>G (p.Ile28178Arg)
c.81575T>G (p.Ile27192Arg)
c.63191T>G (p.Ile21064Arg)
c.84686T>G (p.Ile28229Arg)
c.84683T>G (p.Ile28228Arg)
c.84116T>G (p.Ile28039Arg)
c.81458T>G (p.Ile27153Arg)
c.81377T>G (p.Ile27126Arg)
c.63140T>G (p.Ile21047Arg)
c.52994T>G (p.Ile17665Arg)
2g.178552655A>GCA349512579TTN,TTN-AS1c.82541T>C (p.Ile27514Thr)
c.63626T>C (p.Ile21209Thr)
c.63425T>C (p.Ile21142Thr)
c.63050T>C (p.Ile21017Thr)
c.90245T>C (p.Ile30082Thr)
c.85322T>C (p.Ile28441Thr)
n.447-18645A>G
n.2043+10294A>G
c.89342T>C (p.Ile29781Thr)
c.63236T>C (p.Ile21079Thr)
c.63095T>C (p.Ile21032Thr)
c.89138T>C (p.Ile29713Thr)
c.84536T>C (p.Ile28179Thr)
c.84533T>C (p.Ile28178Thr)
c.81575T>C (p.Ile27192Thr)
c.63191T>C (p.Ile21064Thr)
c.84686T>C (p.Ile28229Thr)
c.84683T>C (p.Ile28228Thr)
c.84116T>C (p.Ile28039Thr)
c.81458T>C (p.Ile27153Thr)
c.81377T>C (p.Ile27126Thr)
c.63140T>C (p.Ile21047Thr)
c.52994T>C (p.Ile17665Thr)
2g.178552655A>TCA349512580TTN,TTN-AS1c.82541T>A (p.Ile27514Lys)
c.63626T>A (p.Ile21209Lys)
c.63425T>A (p.Ile21142Lys)
c.63050T>A (p.Ile21017Lys)
c.90245T>A (p.Ile30082Lys)
c.85322T>A (p.Ile28441Lys)
n.447-18645A>T
n.2043+10294A>T
c.89342T>A (p.Ile29781Lys)
c.63236T>A (p.Ile21079Lys)
c.63095T>A (p.Ile21032Lys)
c.89138T>A (p.Ile29713Lys)
c.84536T>A (p.Ile28179Lys)
c.84533T>A (p.Ile28178Lys)
c.81575T>A (p.Ile27192Lys)
c.63191T>A (p.Ile21064Lys)
c.84686T>A (p.Ile28229Lys)
c.84683T>A (p.Ile28228Lys)
c.84116T>A (p.Ile28039Lys)
c.81458T>A (p.Ile27153Lys)
c.81377T>A (p.Ile27126Lys)
c.63140T>A (p.Ile21047Lys)
c.52994T>A (p.Ile17665Lys)
2g.178552656T>ACA349512582TTN,TTN-AS1c.82540A>T (p.Ile27514Leu)
c.63625A>T (p.Ile21209Leu)
c.63424A>T (p.Ile21142Leu)
c.63049A>T (p.Ile21017Leu)
c.90244A>T (p.Ile30082Leu)
c.85321A>T (p.Ile28441Leu)
n.447-18644T>A
n.2043+10295T>A
c.89341A>T (p.Ile29781Leu)
c.63235A>T (p.Ile21079Leu)
c.63094A>T (p.Ile21032Leu)
c.89137A>T (p.Ile29713Leu)
c.84535A>T (p.Ile28179Leu)
c.84532A>T (p.Ile28178Leu)
c.81574A>T (p.Ile27192Leu)
c.63190A>T (p.Ile21064Leu)
c.84685A>T (p.Ile28229Leu)
c.84682A>T (p.Ile28228Leu)
c.84115A>T (p.Ile28039Leu)
c.81457A>T (p.Ile27153Leu)
c.81376A>T (p.Ile27126Leu)
c.63139A>T (p.Ile21047Leu)
c.52993A>T (p.Ile17665Leu)
2g.178552656T>CCA1987813TTN,TTN-AS1c.82540A>G (p.Ile27514Val)
c.63625A>G (p.Ile21209Val)
c.63424A>G (p.Ile21142Val)
c.63049A>G (p.Ile21017Val)
c.90244A>G (p.Ile30082Val)
c.85321A>G (p.Ile28441Val)
n.447-18644T>C
n.2043+10295T>C
c.89341A>G (p.Ile29781Val)
c.63235A>G (p.Ile21079Val)
c.63094A>G (p.Ile21032Val)
c.89137A>G (p.Ile29713Val)
c.84535A>G (p.Ile28179Val)
c.84532A>G (p.Ile28178Val)
c.81574A>G (p.Ile27192Val)
c.63190A>G (p.Ile21064Val)
c.84685A>G (p.Ile28229Val)
c.84682A>G (p.Ile28228Val)
c.84115A>G (p.Ile28039Val)
c.81457A>G (p.Ile27153Val)
c.81376A>G (p.Ile27126Val)
c.63139A>G (p.Ile21047Val)
c.52993A>G (p.Ile17665Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178552656T>GCA349512584TTN,TTN-AS1c.82540A>C (p.Ile27514Leu)
c.63625A>C (p.Ile21209Leu)
c.63424A>C (p.Ile21142Leu)
c.63049A>C (p.Ile21017Leu)
c.90244A>C (p.Ile30082Leu)
c.85321A>C (p.Ile28441Leu)
n.447-18644T>G
n.2043+10295T>G
c.89341A>C (p.Ile29781Leu)
c.63235A>C (p.Ile21079Leu)
c.63094A>C (p.Ile21032Leu)
c.89137A>C (p.Ile29713Leu)
c.84535A>C (p.Ile28179Leu)
c.84532A>C (p.Ile28178Leu)
c.81574A>C (p.Ile27192Leu)
c.63190A>C (p.Ile21064Leu)
c.84685A>C (p.Ile28229Leu)
c.84682A>C (p.Ile28228Leu)
c.84115A>C (p.Ile28039Leu)
c.81457A>C (p.Ile27153Leu)
c.81376A>C (p.Ile27126Leu)
c.63139A>C (p.Ile21047Leu)
c.52993A>C (p.Ile17665Leu)
2g.178552656T=CA1310522179TTN,TTN-AS1c.82540A= (p.Ile27514=)
c.63625A= (p.Ile21209=)
c.63424A= (p.Ile21142=)
c.63049A= (p.Ile21017=)
c.90244A= (p.Ile30082=)
c.85321A= (p.Ile28441=)
n.447-18644T=
n.2043+10295T=
c.89341A= (p.Ile29781=)
c.63235A= (p.Ile21079=)
c.63094A= (p.Ile21032=)
c.89137A= (p.Ile29713=)
c.84535A= (p.Ile28179=)
c.84532A= (p.Ile28178=)
c.81574A= (p.Ile27192=)
c.63190A= (p.Ile21064=)
c.84685A= (p.Ile28229=)
c.84682A= (p.Ile28228=)
c.84115A= (p.Ile28039=)
c.81457A= (p.Ile27153=)
c.81376A= (p.Ile27126=)
c.63139A= (p.Ile21047=)
c.52993A= (p.Ile17665=)
2g.178552656dupCA2586970730TTN,TTN-AS1c.82540dup (p.Ile27514AsnfsTer3)
c.63625dup (p.Ile21209AsnfsTer3)
c.63424dup (p.Ile21142AsnfsTer3)
c.63049dup (p.Ile21017AsnfsTer3)
c.90244dup (p.Ile30082AsnfsTer3)
c.85321dup (p.Ile28441AsnfsTer3)
n.447-18644dup
n.2043+10295dup
c.89341dup (p.Ile29781AsnfsTer3)
c.63235dup (p.Ile21079AsnfsTer3)
c.63094dup (p.Ile21032AsnfsTer3)
c.89137dup (p.Ile29713AsnfsTer3)
c.84535dup (p.Ile28179AsnfsTer3)
c.84532dup (p.Ile28178AsnfsTer3)
c.81574dup (p.Ile27192AsnfsTer3)
c.63190dup (p.Ile21064AsnfsTer3)
c.84685dup (p.Ile28229AsnfsTer3)
c.84682dup (p.Ile28228AsnfsTer3)
c.84115dup (p.Ile28039AsnfsTer3)
c.81457dup (p.Ile27153AsnfsTer3)
c.81376dup (p.Ile27126AsnfsTer3)
c.63139dup (p.Ile21047AsnfsTer3)
c.52993dup (p.Ile17665AsnfsTer3)
2g.178552657G>ACA430245589TTN,TTN-AS1c.82539C>T (p.Gly27513=)
c.63624C>T (p.Gly21208=)
c.63423C>T (p.Gly21141=)
c.63048C>T (p.Gly21016=)
c.90243C>T (p.Gly30081=)
c.85320C>T (p.Gly28440=)
n.447-18643G>A
n.2043+10296G>A
c.89340C>T (p.Gly29780=)
c.63234C>T (p.Gly21078=)
c.63093C>T (p.Gly21031=)
c.89136C>T (p.Gly29712=)
c.84534C>T (p.Gly28178=)
c.84531C>T (p.Gly28177=)
c.81573C>T (p.Gly27191=)
c.63189C>T (p.Gly21063=)
c.84684C>T (p.Gly28228=)
c.84681C>T (p.Gly28227=)
c.84114C>T (p.Gly28038=)
c.81456C>T (p.Gly27152=)
c.81375C>T (p.Gly27125=)
c.63138C>T (p.Gly21046=)
c.52992C>T (p.Gly17664=)
2g.178552657G>CCA430245590TTN,TTN-AS1c.82539C>G (p.Gly27513=)
c.63624C>G (p.Gly21208=)
c.63423C>G (p.Gly21141=)
c.63048C>G (p.Gly21016=)
c.90243C>G (p.Gly30081=)
c.85320C>G (p.Gly28440=)
n.447-18643G>C
n.2043+10296G>C
c.89340C>G (p.Gly29780=)
c.63234C>G (p.Gly21078=)
c.63093C>G (p.Gly21031=)
c.89136C>G (p.Gly29712=)
c.84534C>G (p.Gly28178=)
c.84531C>G (p.Gly28177=)
c.81573C>G (p.Gly27191=)
c.63189C>G (p.Gly21063=)
c.84684C>G (p.Gly28228=)
c.84681C>G (p.Gly28227=)
c.84114C>G (p.Gly28038=)
c.81456C>G (p.Gly27152=)
c.81375C>G (p.Gly27125=)
c.63138C>G (p.Gly21046=)
c.52992C>G (p.Gly17664=)
2g.178552657G>TCA430245591TTN,TTN-AS1c.82539C>A (p.Gly27513=)
c.63624C>A (p.Gly21208=)
c.63423C>A (p.Gly21141=)
c.63048C>A (p.Gly21016=)
c.90243C>A (p.Gly30081=)
c.85320C>A (p.Gly28440=)
n.447-18643G>T
n.2043+10296G>T
c.89340C>A (p.Gly29780=)
c.63234C>A (p.Gly21078=)
c.63093C>A (p.Gly21031=)
c.89136C>A (p.Gly29712=)
c.84534C>A (p.Gly28178=)
c.84531C>A (p.Gly28177=)
c.81573C>A (p.Gly27191=)
c.63189C>A (p.Gly21063=)
c.84684C>A (p.Gly28228=)
c.84681C>A (p.Gly28227=)
c.84114C>A (p.Gly28038=)
c.81456C>A (p.Gly27152=)
c.81375C>A (p.Gly27125=)
c.63138C>A (p.Gly21046=)
c.52992C>A (p.Gly17664=)
2g.178552658C>ACA349512585TTN,TTN-AS1c.82538G>T (p.Gly27513Val)
c.63623G>T (p.Gly21208Val)
c.63422G>T (p.Gly21141Val)
c.63047G>T (p.Gly21016Val)
c.90242G>T (p.Gly30081Val)
c.85319G>T (p.Gly28440Val)
n.447-18642C>A
n.2043+10297C>A
c.89339G>T (p.Gly29780Val)
c.63233G>T (p.Gly21078Val)
c.63092G>T (p.Gly21031Val)
c.89135G>T (p.Gly29712Val)
c.84533G>T (p.Gly28178Val)
c.84530G>T (p.Gly28177Val)
c.81572G>T (p.Gly27191Val)
c.63188G>T (p.Gly21063Val)
c.84683G>T (p.Gly28228Val)
c.84680G>T (p.Gly28227Val)
c.84113G>T (p.Gly28038Val)
c.81455G>T (p.Gly27152Val)
c.81374G>T (p.Gly27125Val)
c.63137G>T (p.Gly21046Val)
c.52991G>T (p.Gly17664Val)
2g.178552658C=CA1310522182TTN,TTN-AS1c.82538G= (p.Gly27513=)
c.63623G= (p.Gly21208=)
c.63422G= (p.Gly21141=)
c.63047G= (p.Gly21016=)
c.90242G= (p.Gly30081=)
c.85319G= (p.Gly28440=)
n.447-18642C=
n.2043+10297C=
c.89339G= (p.Gly29780=)
c.63233G= (p.Gly21078=)
c.63092G= (p.Gly21031=)
c.89135G= (p.Gly29712=)
c.84533G= (p.Gly28178=)
c.84530G= (p.Gly28177=)
c.81572G= (p.Gly27191=)
c.63188G= (p.Gly21063=)
c.84683G= (p.Gly28228=)
c.84680G= (p.Gly28227=)
c.84113G= (p.Gly28038=)
c.81455G= (p.Gly27152=)
c.81374G= (p.Gly27125=)
c.63137G= (p.Gly21046=)
c.52991G= (p.Gly17664=)
2g.178552658C>GCA349512587TTN,TTN-AS1c.82538G>C (p.Gly27513Ala)
c.63623G>C (p.Gly21208Ala)
c.63422G>C (p.Gly21141Ala)
c.63047G>C (p.Gly21016Ala)
c.90242G>C (p.Gly30081Ala)
c.85319G>C (p.Gly28440Ala)
n.447-18642C>G
n.2043+10297C>G
c.89339G>C (p.Gly29780Ala)
c.63233G>C (p.Gly21078Ala)
c.63092G>C (p.Gly21031Ala)
c.89135G>C (p.Gly29712Ala)
c.84533G>C (p.Gly28178Ala)
c.84530G>C (p.Gly28177Ala)
c.81572G>C (p.Gly27191Ala)
c.63188G>C (p.Gly21063Ala)
c.84683G>C (p.Gly28228Ala)
c.84680G>C (p.Gly28227Ala)
c.84113G>C (p.Gly28038Ala)
c.81455G>C (p.Gly27152Ala)
c.81374G>C (p.Gly27125Ala)
c.63137G>C (p.Gly21046Ala)
c.52991G>C (p.Gly17664Ala)
2g.178552658C>TCA349512586TTN,TTN-AS1c.82538G>A (p.Gly27513Asp)
c.63623G>A (p.Gly21208Asp)
c.63422G>A (p.Gly21141Asp)
c.63047G>A (p.Gly21016Asp)
c.90242G>A (p.Gly30081Asp)
c.85319G>A (p.Gly28440Asp)
n.447-18642C>T
n.2043+10297C>T
c.89339G>A (p.Gly29780Asp)
c.63233G>A (p.Gly21078Asp)
c.63092G>A (p.Gly21031Asp)
c.89135G>A (p.Gly29712Asp)
c.84533G>A (p.Gly28178Asp)
c.84530G>A (p.Gly28177Asp)
c.81572G>A (p.Gly27191Asp)
c.63188G>A (p.Gly21063Asp)
c.84683G>A (p.Gly28228Asp)
c.84680G>A (p.Gly28227Asp)
c.84113G>A (p.Gly28038Asp)
c.81455G>A (p.Gly27152Asp)
c.81374G>A (p.Gly27125Asp)
c.63137G>A (p.Gly21046Asp)
c.52991G>A (p.Gly17664Asp)
dbSNP
2g.178552659C>ACA349512589TTN,TTN-AS1c.82537G>T (p.Gly27513Cys)
c.63622G>T (p.Gly21208Cys)
c.63421G>T (p.Gly21141Cys)
c.63046G>T (p.Gly21016Cys)
c.90241G>T (p.Gly30081Cys)
c.85318G>T (p.Gly28440Cys)
n.447-18641C>A
n.2043+10298C>A
c.89338G>T (p.Gly29780Cys)
c.63232G>T (p.Gly21078Cys)
c.63091G>T (p.Gly21031Cys)
c.89134G>T (p.Gly29712Cys)
c.84532G>T (p.Gly28178Cys)
c.84529G>T (p.Gly28177Cys)
c.81571G>T (p.Gly27191Cys)
c.63187G>T (p.Gly21063Cys)
c.84682G>T (p.Gly28228Cys)
c.84679G>T (p.Gly28227Cys)
c.84112G>T (p.Gly28038Cys)
c.81454G>T (p.Gly27152Cys)
c.81373G>T (p.Gly27125Cys)
c.63136G>T (p.Gly21046Cys)
c.52990G>T (p.Gly17664Cys)
gnomAD v4
2g.178552659C>GCA349512590TTN,TTN-AS1c.82537G>C (p.Gly27513Arg)
c.63622G>C (p.Gly21208Arg)
c.63421G>C (p.Gly21141Arg)
c.63046G>C (p.Gly21016Arg)
c.90241G>C (p.Gly30081Arg)
c.85318G>C (p.Gly28440Arg)
n.447-18641C>G
n.2043+10298C>G
c.89338G>C (p.Gly29780Arg)
c.63232G>C (p.Gly21078Arg)
c.63091G>C (p.Gly21031Arg)
c.89134G>C (p.Gly29712Arg)
c.84532G>C (p.Gly28178Arg)
c.84529G>C (p.Gly28177Arg)
c.81571G>C (p.Gly27191Arg)
c.63187G>C (p.Gly21063Arg)
c.84682G>C (p.Gly28228Arg)
c.84679G>C (p.Gly28227Arg)
c.84112G>C (p.Gly28038Arg)
c.81454G>C (p.Gly27152Arg)
c.81373G>C (p.Gly27125Arg)
c.63136G>C (p.Gly21046Arg)
c.52990G>C (p.Gly17664Arg)
2g.178552659C>TCA349512595TTN,TTN-AS1c.82537G>A (p.Gly27513Ser)
c.63622G>A (p.Gly21208Ser)
c.63421G>A (p.Gly21141Ser)
c.63046G>A (p.Gly21016Ser)
c.90241G>A (p.Gly30081Ser)
c.85318G>A (p.Gly28440Ser)
n.447-18641C>T
n.2043+10298C>T
c.89338G>A (p.Gly29780Ser)
c.63232G>A (p.Gly21078Ser)
c.63091G>A (p.Gly21031Ser)
c.89134G>A (p.Gly29712Ser)
c.84532G>A (p.Gly28178Ser)
c.84529G>A (p.Gly28177Ser)
c.81571G>A (p.Gly27191Ser)
c.63187G>A (p.Gly21063Ser)
c.84682G>A (p.Gly28228Ser)
c.84679G>A (p.Gly28227Ser)
c.84112G>A (p.Gly28038Ser)
c.81454G>A (p.Gly27152Ser)
c.81373G>A (p.Gly27125Ser)
c.63136G>A (p.Gly21046Ser)
c.52990G>A (p.Gly17664Ser)
2g.178552660A>CCA430245595TTN,TTN-AS1c.82536T>G (p.Ala27512=)
c.63621T>G (p.Ala21207=)
c.63420T>G (p.Ala21140=)
c.63045T>G (p.Ala21015=)
c.90240T>G (p.Ala30080=)
c.85317T>G (p.Ala28439=)
n.447-18640A>C
n.2043+10299A>C
c.89337T>G (p.Ala29779=)
c.63231T>G (p.Ala21077=)
c.63090T>G (p.Ala21030=)
c.89133T>G (p.Ala29711=)
c.84531T>G (p.Ala28177=)
c.84528T>G (p.Ala28176=)
c.81570T>G (p.Ala27190=)
c.63186T>G (p.Ala21062=)
c.84681T>G (p.Ala28227=)
c.84678T>G (p.Ala28226=)
c.84111T>G (p.Ala28037=)
c.81453T>G (p.Ala27151=)
c.81372T>G (p.Ala27124=)
c.63135T>G (p.Ala21045=)
c.52989T>G (p.Ala17663=)
2g.178552660A>GCA430245598TTN,TTN-AS1c.82536T>C (p.Ala27512=)
c.63621T>C (p.Ala21207=)
c.63420T>C (p.Ala21140=)
c.63045T>C (p.Ala21015=)
c.90240T>C (p.Ala30080=)
c.85317T>C (p.Ala28439=)
n.447-18640A>G
n.2043+10299A>G
c.89337T>C (p.Ala29779=)
c.63231T>C (p.Ala21077=)
c.63090T>C (p.Ala21030=)
c.89133T>C (p.Ala29711=)
c.84531T>C (p.Ala28177=)
c.84528T>C (p.Ala28176=)
c.81570T>C (p.Ala27190=)
c.63186T>C (p.Ala21062=)
c.84681T>C (p.Ala28227=)
c.84678T>C (p.Ala28226=)
c.84111T>C (p.Ala28037=)
c.81453T>C (p.Ala27151=)
c.81372T>C (p.Ala27124=)
c.63135T>C (p.Ala21045=)
c.52989T>C (p.Ala17663=)
2g.178552660A>TCA430245600TTN,TTN-AS1c.82536T>A (p.Ala27512=)
c.63621T>A (p.Ala21207=)
c.63420T>A (p.Ala21140=)
c.63045T>A (p.Ala21015=)
c.90240T>A (p.Ala30080=)
c.85317T>A (p.Ala28439=)
n.447-18640A>T
n.2043+10299A>T
c.89337T>A (p.Ala29779=)
c.63231T>A (p.Ala21077=)
c.63090T>A (p.Ala21030=)
c.89133T>A (p.Ala29711=)
c.84531T>A (p.Ala28177=)
c.84528T>A (p.Ala28176=)
c.81570T>A (p.Ala27190=)
c.63186T>A (p.Ala21062=)
c.84681T>A (p.Ala28227=)
c.84678T>A (p.Ala28226=)
c.84111T>A (p.Ala28037=)
c.81453T>A (p.Ala27151=)
c.81372T>A (p.Ala27124=)
c.63135T>A (p.Ala21045=)
c.52989T>A (p.Ala17663=)
2g.178552661G>ACA349512601TTN,TTN-AS1c.82535C>T (p.Ala27512Val)
c.63620C>T (p.Ala21207Val)
c.63419C>T (p.Ala21140Val)
c.63044C>T (p.Ala21015Val)
c.90239C>T (p.Ala30080Val)
c.85316C>T (p.Ala28439Val)
n.447-18639G>A
n.2043+10300G>A
c.89336C>T (p.Ala29779Val)
c.63230C>T (p.Ala21077Val)
c.63089C>T (p.Ala21030Val)
c.89132C>T (p.Ala29711Val)
c.84530C>T (p.Ala28177Val)
c.84527C>T (p.Ala28176Val)
c.81569C>T (p.Ala27190Val)
c.63185C>T (p.Ala21062Val)
c.84680C>T (p.Ala28227Val)
c.84677C>T (p.Ala28226Val)
c.84110C>T (p.Ala28037Val)
c.81452C>T (p.Ala27151Val)
c.81371C>T (p.Ala27124Val)
c.63134C>T (p.Ala21045Val)
c.52988C>T (p.Ala17663Val)
2g.178552661G>CCA349512602TTN,TTN-AS1c.82535C>G (p.Ala27512Gly)
c.63620C>G (p.Ala21207Gly)
c.63419C>G (p.Ala21140Gly)
c.63044C>G (p.Ala21015Gly)
c.90239C>G (p.Ala30080Gly)
c.85316C>G (p.Ala28439Gly)
n.447-18639G>C
n.2043+10300G>C
c.89336C>G (p.Ala29779Gly)
c.63230C>G (p.Ala21077Gly)
c.63089C>G (p.Ala21030Gly)
c.89132C>G (p.Ala29711Gly)
c.84530C>G (p.Ala28177Gly)
c.84527C>G (p.Ala28176Gly)
c.81569C>G (p.Ala27190Gly)
c.63185C>G (p.Ala21062Gly)
c.84680C>G (p.Ala28227Gly)
c.84677C>G (p.Ala28226Gly)
c.84110C>G (p.Ala28037Gly)
c.81452C>G (p.Ala27151Gly)
c.81371C>G (p.Ala27124Gly)
c.63134C>G (p.Ala21045Gly)
c.52988C>G (p.Ala17663Gly)
2g.178552661G>TCA349512605TTN,TTN-AS1c.82535C>A (p.Ala27512Asp)
c.63620C>A (p.Ala21207Asp)
c.63419C>A (p.Ala21140Asp)
c.63044C>A (p.Ala21015Asp)
c.90239C>A (p.Ala30080Asp)
c.85316C>A (p.Ala28439Asp)
n.447-18639G>T
n.2043+10300G>T
c.89336C>A (p.Ala29779Asp)
c.63230C>A (p.Ala21077Asp)
c.63089C>A (p.Ala21030Asp)
c.89132C>A (p.Ala29711Asp)
c.84530C>A (p.Ala28177Asp)
c.84527C>A (p.Ala28176Asp)
c.81569C>A (p.Ala27190Asp)
c.63185C>A (p.Ala21062Asp)
c.84680C>A (p.Ala28227Asp)
c.84677C>A (p.Ala28226Asp)
c.84110C>A (p.Ala28037Asp)
c.81452C>A (p.Ala27151Asp)
c.81371C>A (p.Ala27124Asp)
c.63134C>A (p.Ala21045Asp)
c.52988C>A (p.Ala17663Asp)
2g.178552662C>ACA349512608TTN,TTN-AS1c.82534G>T (p.Ala27512Ser)
c.63619G>T (p.Ala21207Ser)
c.63418G>T (p.Ala21140Ser)
c.63043G>T (p.Ala21015Ser)
c.90238G>T (p.Ala30080Ser)
c.85315G>T (p.Ala28439Ser)
n.447-18638C>A
n.2043+10301C>A
c.89335G>T (p.Ala29779Ser)
c.63229G>T (p.Ala21077Ser)
c.63088G>T (p.Ala21030Ser)
c.89131G>T (p.Ala29711Ser)
c.84529G>T (p.Ala28177Ser)
c.84526G>T (p.Ala28176Ser)
c.81568G>T (p.Ala27190Ser)
c.63184G>T (p.Ala21062Ser)
c.84679G>T (p.Ala28227Ser)
c.84676G>T (p.Ala28226Ser)
c.84109G>T (p.Ala28037Ser)
c.81451G>T (p.Ala27151Ser)
c.81370G>T (p.Ala27124Ser)
c.63133G>T (p.Ala21045Ser)
c.52987G>T (p.Ala17663Ser)
2g.178552662C=CA1310522184TTN,TTN-AS1c.82534G= (p.Ala27512=)
c.63619G= (p.Ala21207=)
c.63418G= (p.Ala21140=)
c.63043G= (p.Ala21015=)
c.90238G= (p.Ala30080=)
c.85315G= (p.Ala28439=)
n.447-18638C=
n.2043+10301C=
c.89335G= (p.Ala29779=)
c.63229G= (p.Ala21077=)
c.63088G= (p.Ala21030=)
c.89131G= (p.Ala29711=)
c.84529G= (p.Ala28177=)
c.84526G= (p.Ala28176=)
c.81568G= (p.Ala27190=)
c.63184G= (p.Ala21062=)
c.84679G= (p.Ala28227=)
c.84676G= (p.Ala28226=)
c.84109G= (p.Ala28037=)
c.81451G= (p.Ala27151=)
c.81370G= (p.Ala27124=)
c.63133G= (p.Ala21045=)
c.52987G= (p.Ala17663=)
2g.178552662C>GCA349512620TTN,TTN-AS1c.82534G>C (p.Ala27512Pro)
c.63619G>C (p.Ala21207Pro)
c.63418G>C (p.Ala21140Pro)
c.63043G>C (p.Ala21015Pro)
c.90238G>C (p.Ala30080Pro)
c.85315G>C (p.Ala28439Pro)
n.447-18638C>G
n.2043+10301C>G
c.89335G>C (p.Ala29779Pro)
c.63229G>C (p.Ala21077Pro)
c.63088G>C (p.Ala21030Pro)
c.89131G>C (p.Ala29711Pro)
c.84529G>C (p.Ala28177Pro)
c.84526G>C (p.Ala28176Pro)
c.81568G>C (p.Ala27190Pro)
c.63184G>C (p.Ala21062Pro)
c.84679G>C (p.Ala28227Pro)
c.84676G>C (p.Ala28226Pro)
c.84109G>C (p.Ala28037Pro)
c.81451G>C (p.Ala27151Pro)
c.81370G>C (p.Ala27124Pro)
c.63133G>C (p.Ala21045Pro)
c.52987G>C (p.Ala17663Pro)
2g.178552662C>TCA1987814TTN,TTN-AS1c.82534G>A (p.Ala27512Thr)
c.63619G>A (p.Ala21207Thr)
c.63418G>A (p.Ala21140Thr)
c.63043G>A (p.Ala21015Thr)
c.90238G>A (p.Ala30080Thr)
c.85315G>A (p.Ala28439Thr)
n.447-18638C>T
n.2043+10301C>T
c.89335G>A (p.Ala29779Thr)
c.63229G>A (p.Ala21077Thr)
c.63088G>A (p.Ala21030Thr)
c.89131G>A (p.Ala29711Thr)
c.84529G>A (p.Ala28177Thr)
c.84526G>A (p.Ala28176Thr)
c.81568G>A (p.Ala27190Thr)
c.63184G>A (p.Ala21062Thr)
c.84679G>A (p.Ala28227Thr)
c.84676G>A (p.Ala28226Thr)
c.84109G>A (p.Ala28037Thr)
c.81451G>A (p.Ala27151Thr)
c.81370G>A (p.Ala27124Thr)
c.63133G>A (p.Ala21045Thr)
c.52987G>A (p.Ala17663Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178552663G>ACA1987815TTN,TTN-AS1c.82533C>T (p.His27511=)
c.63618C>T (p.His21206=)
c.63417C>T (p.His21139=)
c.63042C>T (p.His21014=)
c.90237C>T (p.His30079=)
c.85314C>T (p.His28438=)
n.447-18637G>A
n.2043+10302G>A
c.89334C>T (p.His29778=)
c.63228C>T (p.His21076=)
c.63087C>T (p.His21029=)
c.89130C>T (p.His29710=)
c.84528C>T (p.His28176=)
c.84525C>T (p.His28175=)
c.81567C>T (p.His27189=)
c.63183C>T (p.His21061=)
c.84678C>T (p.His28226=)
c.84675C>T (p.His28225=)
c.84108C>T (p.His28036=)
c.81450C>T (p.His27150=)
c.81369C>T (p.His27123=)
c.63132C>T (p.His21044=)
c.52986C>T (p.His17662=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552663G>CCA349512629TTN,TTN-AS1c.82533C>G (p.His27511Gln)
c.63618C>G (p.His21206Gln)
c.63417C>G (p.His21139Gln)
c.63042C>G (p.His21014Gln)
c.90237C>G (p.His30079Gln)
c.85314C>G (p.His28438Gln)
n.447-18637G>C
n.2043+10302G>C
c.89334C>G (p.His29778Gln)
c.63228C>G (p.His21076Gln)
c.63087C>G (p.His21029Gln)
c.89130C>G (p.His29710Gln)
c.84528C>G (p.His28176Gln)
c.84525C>G (p.His28175Gln)
c.81567C>G (p.His27189Gln)
c.63183C>G (p.His21061Gln)
c.84678C>G (p.His28226Gln)
c.84675C>G (p.His28225Gln)
c.84108C>G (p.His28036Gln)
c.81450C>G (p.His27150Gln)
c.81369C>G (p.His27123Gln)
c.63132C>G (p.His21044Gln)
c.52986C>G (p.His17662Gln)
dbSNP
2g.178552663G=CA1310522187TTN,TTN-AS1c.82533C= (p.His27511=)
c.63618C= (p.His21206=)
c.63417C= (p.His21139=)
c.63042C= (p.His21014=)
c.90237C= (p.His30079=)
c.85314C= (p.His28438=)
n.447-18637G=
n.2043+10302G=
c.89334C= (p.His29778=)
c.63228C= (p.His21076=)
c.63087C= (p.His21029=)
c.89130C= (p.His29710=)
c.84528C= (p.His28176=)
c.84525C= (p.His28175=)
c.81567C= (p.His27189=)
c.63183C= (p.His21061=)
c.84678C= (p.His28226=)
c.84675C= (p.His28225=)
c.84108C= (p.His28036=)
c.81450C= (p.His27150=)
c.81369C= (p.His27123=)
c.63132C= (p.His21044=)
c.52986C= (p.His17662=)
2g.178552663G>TCA349512630TTN,TTN-AS1c.82533C>A (p.His27511Gln)
c.63618C>A (p.His21206Gln)
c.63417C>A (p.His21139Gln)
c.63042C>A (p.His21014Gln)
c.90237C>A (p.His30079Gln)
c.85314C>A (p.His28438Gln)
n.447-18637G>T
n.2043+10302G>T
c.89334C>A (p.His29778Gln)
c.63228C>A (p.His21076Gln)
c.63087C>A (p.His21029Gln)
c.89130C>A (p.His29710Gln)
c.84528C>A (p.His28176Gln)
c.84525C>A (p.His28175Gln)
c.81567C>A (p.His27189Gln)
c.63183C>A (p.His21061Gln)
c.84678C>A (p.His28226Gln)
c.84675C>A (p.His28225Gln)
c.84108C>A (p.His28036Gln)
c.81450C>A (p.His27150Gln)
c.81369C>A (p.His27123Gln)
c.63132C>A (p.His21044Gln)
c.52986C>A (p.His17662Gln)
2g.178552664T>ACA349512631TTN,TTN-AS1c.82532A>T (p.His27511Leu)
c.63617A>T (p.His21206Leu)
c.63416A>T (p.His21139Leu)
c.63041A>T (p.His21014Leu)
c.90236A>T (p.His30079Leu)
c.85313A>T (p.His28438Leu)
n.447-18636T>A
n.2043+10303T>A
c.89333A>T (p.His29778Leu)
c.63227A>T (p.His21076Leu)
c.63086A>T (p.His21029Leu)
c.89129A>T (p.His29710Leu)
c.84527A>T (p.His28176Leu)
c.84524A>T (p.His28175Leu)
c.81566A>T (p.His27189Leu)
c.63182A>T (p.His21061Leu)
c.84677A>T (p.His28226Leu)
c.84674A>T (p.His28225Leu)
c.84107A>T (p.His28036Leu)
c.81449A>T (p.His27150Leu)
c.81368A>T (p.His27123Leu)
c.63131A>T (p.His21044Leu)
c.52985A>T (p.His17662Leu)
2g.178552664T>CCA349512633TTN,TTN-AS1c.82532A>G (p.His27511Arg)
c.63617A>G (p.His21206Arg)
c.63416A>G (p.His21139Arg)
c.63041A>G (p.His21014Arg)
c.90236A>G (p.His30079Arg)
c.85313A>G (p.His28438Arg)
n.447-18636T>C
n.2043+10303T>C
c.89333A>G (p.His29778Arg)
c.63227A>G (p.His21076Arg)
c.63086A>G (p.His21029Arg)
c.89129A>G (p.His29710Arg)
c.84527A>G (p.His28176Arg)
c.84524A>G (p.His28175Arg)
c.81566A>G (p.His27189Arg)
c.63182A>G (p.His21061Arg)
c.84677A>G (p.His28226Arg)
c.84674A>G (p.His28225Arg)
c.84107A>G (p.His28036Arg)
c.81449A>G (p.His27150Arg)
c.81368A>G (p.His27123Arg)
c.63131A>G (p.His21044Arg)
c.52985A>G (p.His17662Arg)
2g.178552664T>GCA349512632TTN,TTN-AS1c.82532A>C (p.His27511Pro)
c.63617A>C (p.His21206Pro)
c.63416A>C (p.His21139Pro)
c.63041A>C (p.His21014Pro)
c.90236A>C (p.His30079Pro)
c.85313A>C (p.His28438Pro)
n.447-18636T>G
n.2043+10303T>G
c.89333A>C (p.His29778Pro)
c.63227A>C (p.His21076Pro)
c.63086A>C (p.His21029Pro)
c.89129A>C (p.His29710Pro)
c.84527A>C (p.His28176Pro)
c.84524A>C (p.His28175Pro)
c.81566A>C (p.His27189Pro)
c.63182A>C (p.His21061Pro)
c.84677A>C (p.His28226Pro)
c.84674A>C (p.His28225Pro)
c.84107A>C (p.His28036Pro)
c.81449A>C (p.His27150Pro)
c.81368A>C (p.His27123Pro)
c.63131A>C (p.His21044Pro)
c.52985A>C (p.His17662Pro)
2g.178552665G>ACA349512634TTN,TTN-AS1c.82531C>T (p.His27511Tyr)
c.63616C>T (p.His21206Tyr)
c.63415C>T (p.His21139Tyr)
c.63040C>T (p.His21014Tyr)
c.90235C>T (p.His30079Tyr)
c.85312C>T (p.His28438Tyr)
n.447-18635G>A
n.2043+10304G>A
c.89332C>T (p.His29778Tyr)
c.63226C>T (p.His21076Tyr)
c.63085C>T (p.His21029Tyr)
c.89128C>T (p.His29710Tyr)
c.84526C>T (p.His28176Tyr)
c.84523C>T (p.His28175Tyr)
c.81565C>T (p.His27189Tyr)
c.63181C>T (p.His21061Tyr)
c.84676C>T (p.His28226Tyr)
c.84673C>T (p.His28225Tyr)
c.84106C>T (p.His28036Tyr)
c.81448C>T (p.His27150Tyr)
c.81367C>T (p.His27123Tyr)
c.63130C>T (p.His21044Tyr)
c.52984C>T (p.His17662Tyr)
2g.178552665G>CCA349512635TTN,TTN-AS1c.82531C>G (p.His27511Asp)
c.63616C>G (p.His21206Asp)
c.63415C>G (p.His21139Asp)
c.63040C>G (p.His21014Asp)
c.90235C>G (p.His30079Asp)
c.85312C>G (p.His28438Asp)
n.447-18635G>C
n.2043+10304G>C
c.89332C>G (p.His29778Asp)
c.63226C>G (p.His21076Asp)
c.63085C>G (p.His21029Asp)
c.89128C>G (p.His29710Asp)
c.84526C>G (p.His28176Asp)
c.84523C>G (p.His28175Asp)
c.81565C>G (p.His27189Asp)
c.63181C>G (p.His21061Asp)
c.84676C>G (p.His28226Asp)
c.84673C>G (p.His28225Asp)
c.84106C>G (p.His28036Asp)
c.81448C>G (p.His27150Asp)
c.81367C>G (p.His27123Asp)
c.63130C>G (p.His21044Asp)
c.52984C>G (p.His17662Asp)
2g.178552665G>TCA349512637TTN,TTN-AS1c.82531C>A (p.His27511Asn)
c.63616C>A (p.His21206Asn)
c.63415C>A (p.His21139Asn)
c.63040C>A (p.His21014Asn)
c.90235C>A (p.His30079Asn)
c.85312C>A (p.His28438Asn)
n.447-18635G>T
n.2043+10304G>T
c.89332C>A (p.His29778Asn)
c.63226C>A (p.His21076Asn)
c.63085C>A (p.His21029Asn)
c.89128C>A (p.His29710Asn)
c.84526C>A (p.His28176Asn)
c.84523C>A (p.His28175Asn)
c.81565C>A (p.His27189Asn)
c.63181C>A (p.His21061Asn)
c.84676C>A (p.His28226Asn)
c.84673C>A (p.His28225Asn)
c.84106C>A (p.His28036Asn)
c.81448C>A (p.His27150Asn)
c.81367C>A (p.His27123Asn)
c.63130C>A (p.His21044Asn)
c.52984C>A (p.His17662Asn)
2g.178552666G>ACA430245604TTN,TTN-AS1c.82530C>T (p.Ser27510=)
c.63615C>T (p.Ser21205=)
c.63414C>T (p.Ser21138=)
c.63039C>T (p.Ser21013=)
c.90234C>T (p.Ser30078=)
c.85311C>T (p.Ser28437=)
n.447-18634G>A
n.2043+10305G>A
c.89331C>T (p.Ser29777=)
c.63225C>T (p.Ser21075=)
c.63084C>T (p.Ser21028=)
c.89127C>T (p.Ser29709=)
c.84525C>T (p.Ser28175=)
c.84522C>T (p.Ser28174=)
c.81564C>T (p.Ser27188=)
c.63180C>T (p.Ser21060=)
c.84675C>T (p.Ser28225=)
c.84672C>T (p.Ser28224=)
c.84105C>T (p.Ser28035=)
c.81447C>T (p.Ser27149=)
c.81366C>T (p.Ser27122=)
c.63129C>T (p.Ser21043=)
c.52983C>T (p.Ser17661=)
gnomAD v4
2g.178552666G>CCA430245605TTN,TTN-AS1c.82530C>G (p.Ser27510=)
c.63615C>G (p.Ser21205=)
c.63414C>G (p.Ser21138=)
c.63039C>G (p.Ser21013=)
c.90234C>G (p.Ser30078=)
c.85311C>G (p.Ser28437=)
n.447-18634G>C
n.2043+10305G>C
c.89331C>G (p.Ser29777=)
c.63225C>G (p.Ser21075=)
c.63084C>G (p.Ser21028=)
c.89127C>G (p.Ser29709=)
c.84525C>G (p.Ser28175=)
c.84522C>G (p.Ser28174=)
c.81564C>G (p.Ser27188=)
c.63180C>G (p.Ser21060=)
c.84675C>G (p.Ser28225=)
c.84672C>G (p.Ser28224=)
c.84105C>G (p.Ser28035=)
c.81447C>G (p.Ser27149=)
c.81366C>G (p.Ser27122=)
c.63129C>G (p.Ser21043=)
c.52983C>G (p.Ser17661=)
2g.178552666G>TCA430245606TTN,TTN-AS1c.82530C>A (p.Ser27510=)
c.63615C>A (p.Ser21205=)
c.63414C>A (p.Ser21138=)
c.63039C>A (p.Ser21013=)
c.90234C>A (p.Ser30078=)
c.85311C>A (p.Ser28437=)
n.447-18634G>T
n.2043+10305G>T
c.89331C>A (p.Ser29777=)
c.63225C>A (p.Ser21075=)
c.63084C>A (p.Ser21028=)
c.89127C>A (p.Ser29709=)
c.84525C>A (p.Ser28175=)
c.84522C>A (p.Ser28174=)
c.81564C>A (p.Ser27188=)
c.63180C>A (p.Ser21060=)
c.84675C>A (p.Ser28225=)
c.84672C>A (p.Ser28224=)
c.84105C>A (p.Ser28035=)
c.81447C>A (p.Ser27149=)
c.81366C>A (p.Ser27122=)
c.63129C>A (p.Ser21043=)
c.52983C>A (p.Ser17661=)
2g.178552667G>ACA349512638TTN,TTN-AS1c.82529C>T (p.Ser27510Phe)
c.63614C>T (p.Ser21205Phe)
c.63413C>T (p.Ser21138Phe)
c.63038C>T (p.Ser21013Phe)
c.90233C>T (p.Ser30078Phe)
c.85310C>T (p.Ser28437Phe)
n.447-18633G>A
n.2043+10306G>A
c.89330C>T (p.Ser29777Phe)
c.63224C>T (p.Ser21075Phe)
c.63083C>T (p.Ser21028Phe)
c.89126C>T (p.Ser29709Phe)
c.84524C>T (p.Ser28175Phe)
c.84521C>T (p.Ser28174Phe)
c.81563C>T (p.Ser27188Phe)
c.63179C>T (p.Ser21060Phe)
c.84674C>T (p.Ser28225Phe)
c.84671C>T (p.Ser28224Phe)
c.84104C>T (p.Ser28035Phe)
c.81446C>T (p.Ser27149Phe)
c.81365C>T (p.Ser27122Phe)
c.63128C>T (p.Ser21043Phe)
c.52982C>T (p.Ser17661Phe)
COSMIC COSMIC COSMIC COSMIC
2g.178552667G>CCA349512639TTN,TTN-AS1c.82529C>G (p.Ser27510Cys)
c.63614C>G (p.Ser21205Cys)
c.63413C>G (p.Ser21138Cys)
c.63038C>G (p.Ser21013Cys)
c.90233C>G (p.Ser30078Cys)
c.85310C>G (p.Ser28437Cys)
n.447-18633G>C
n.2043+10306G>C
c.89330C>G (p.Ser29777Cys)
c.63224C>G (p.Ser21075Cys)
c.63083C>G (p.Ser21028Cys)
c.89126C>G (p.Ser29709Cys)
c.84524C>G (p.Ser28175Cys)
c.84521C>G (p.Ser28174Cys)
c.81563C>G (p.Ser27188Cys)
c.63179C>G (p.Ser21060Cys)
c.84674C>G (p.Ser28225Cys)
c.84671C>G (p.Ser28224Cys)
c.84104C>G (p.Ser28035Cys)
c.81446C>G (p.Ser27149Cys)
c.81365C>G (p.Ser27122Cys)
c.63128C>G (p.Ser21043Cys)
c.52982C>G (p.Ser17661Cys)
2g.178552667G>TCA349512643TTN,TTN-AS1c.82529C>A (p.Ser27510Tyr)
c.63614C>A (p.Ser21205Tyr)
c.63413C>A (p.Ser21138Tyr)
c.63038C>A (p.Ser21013Tyr)
c.90233C>A (p.Ser30078Tyr)
c.85310C>A (p.Ser28437Tyr)
n.447-18633G>T
n.2043+10306G>T
c.89330C>A (p.Ser29777Tyr)
c.63224C>A (p.Ser21075Tyr)
c.63083C>A (p.Ser21028Tyr)
c.89126C>A (p.Ser29709Tyr)
c.84524C>A (p.Ser28175Tyr)
c.84521C>A (p.Ser28174Tyr)
c.81563C>A (p.Ser27188Tyr)
c.63179C>A (p.Ser21060Tyr)
c.84674C>A (p.Ser28225Tyr)
c.84671C>A (p.Ser28224Tyr)
c.84104C>A (p.Ser28035Tyr)
c.81446C>A (p.Ser27149Tyr)
c.81365C>A (p.Ser27122Tyr)
c.63128C>A (p.Ser21043Tyr)
c.52982C>A (p.Ser17661Tyr)
COSMIC COSMIC COSMIC COSMIC
2g.178552668A>CCA349512646TTN,TTN-AS1c.82528T>G (p.Ser27510Ala)
c.63613T>G (p.Ser21205Ala)
c.63412T>G (p.Ser21138Ala)
c.63037T>G (p.Ser21013Ala)
c.90232T>G (p.Ser30078Ala)
c.85309T>G (p.Ser28437Ala)
n.447-18632A>C
n.2043+10307A>C
c.89329T>G (p.Ser29777Ala)
c.63223T>G (p.Ser21075Ala)
c.63082T>G (p.Ser21028Ala)
c.89125T>G (p.Ser29709Ala)
c.84523T>G (p.Ser28175Ala)
c.84520T>G (p.Ser28174Ala)
c.81562T>G (p.Ser27188Ala)
c.63178T>G (p.Ser21060Ala)
c.84673T>G (p.Ser28225Ala)
c.84670T>G (p.Ser28224Ala)
c.84103T>G (p.Ser28035Ala)
c.81445T>G (p.Ser27149Ala)
c.81364T>G (p.Ser27122Ala)
c.63127T>G (p.Ser21043Ala)
c.52981T>G (p.Ser17661Ala)

Number of alleles fetched