Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178552654_178552656dup | CA761287210 | TTN,TTN-AS1 | c.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 |
2 | g.178552654T>A | CA430245585 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552654T>C | CA10587452 | TTN,TTN-AS1 | c.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 |
2 | g.178552654T>G | CA430245586 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552654T= | CA1310522176 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552655A>C | CA349512577 | TTN,TTN-AS1 | c.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) | |
2 | g.178552655A>G | CA349512579 | TTN,TTN-AS1 | c.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) | |
2 | g.178552655A>T | CA349512580 | TTN,TTN-AS1 | c.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) | |
2 | g.178552656T>A | CA349512582 | TTN,TTN-AS1 | c.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) | |
2 | g.178552656T>C | CA1987813 | TTN,TTN-AS1 | c.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 |
2 | g.178552656T>G | CA349512584 | TTN,TTN-AS1 | c.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) | |
2 | g.178552656T= | CA1310522179 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552656dup | CA2586970730 | TTN,TTN-AS1 | c.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) | |
2 | g.178552657G>A | CA430245589 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552657G>C | CA430245590 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552657G>T | CA430245591 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552658C>A | CA349512585 | TTN,TTN-AS1 | c.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) | |
2 | g.178552658C= | CA1310522182 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552658C>G | CA349512587 | TTN,TTN-AS1 | c.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) | |
2 | g.178552658C>T | CA349512586 | TTN,TTN-AS1 | c.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 |
2 | g.178552659C>A | CA349512589 | TTN,TTN-AS1 | c.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 |
2 | g.178552659C>G | CA349512590 | TTN,TTN-AS1 | c.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) | |
2 | g.178552659C>T | CA349512595 | TTN,TTN-AS1 | c.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) | |
2 | g.178552660A>C | CA430245595 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552660A>G | CA430245598 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552660A>T | CA430245600 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552661G>A | CA349512601 | TTN,TTN-AS1 | c.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) | |
2 | g.178552661G>C | CA349512602 | TTN,TTN-AS1 | c.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) | |
2 | g.178552661G>T | CA349512605 | TTN,TTN-AS1 | c.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) | |
2 | g.178552662C>A | CA349512608 | TTN,TTN-AS1 | c.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) | |
2 | g.178552662C= | CA1310522184 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552662C>G | CA349512620 | TTN,TTN-AS1 | c.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) | |
2 | g.178552662C>T | CA1987814 | TTN,TTN-AS1 | c.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 |
2 | g.178552663G>A | CA1987815 | TTN,TTN-AS1 | c.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 |
2 | g.178552663G>C | CA349512629 | TTN,TTN-AS1 | c.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 |
2 | g.178552663G= | CA1310522187 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552663G>T | CA349512630 | TTN,TTN-AS1 | c.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) | |
2 | g.178552664T>A | CA349512631 | TTN,TTN-AS1 | c.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) | |
2 | g.178552664T>C | CA349512633 | TTN,TTN-AS1 | c.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) | |
2 | g.178552664T>G | CA349512632 | TTN,TTN-AS1 | c.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) | |
2 | g.178552665G>A | CA349512634 | TTN,TTN-AS1 | c.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) | |
2 | g.178552665G>C | CA349512635 | TTN,TTN-AS1 | c.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) | |
2 | g.178552665G>T | CA349512637 | TTN,TTN-AS1 | c.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) | |
2 | g.178552666G>A | CA430245604 | TTN,TTN-AS1 | c.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 |
2 | g.178552666G>C | CA430245605 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552666G>T | CA430245606 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552667G>A | CA349512638 | TTN,TTN-AS1 | c.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 |
2 | g.178552667G>C | CA349512639 | TTN,TTN-AS1 | c.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) | |
2 | g.178552667G>T | CA349512643 | TTN,TTN-AS1 | c.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 |
2 | g.178552668A>C | CA349512646 | TTN,TTN-AS1 | c.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) |