Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.178552668A>G | CA349512657 | TTN,TTN-AS1 | c.82528T>C (p.Ser27510Pro) c.63613T>C (p.Ser21205Pro) c.63412T>C (p.Ser21138Pro) c.63037T>C (p.Ser21013Pro) c.90232T>C (p.Ser30078Pro) c.85309T>C (p.Ser28437Pro) n.447-18632A>G n.2043+10307A>G c.89329T>C (p.Ser29777Pro) c.63223T>C (p.Ser21075Pro) c.63082T>C (p.Ser21028Pro) c.89125T>C (p.Ser29709Pro) c.84523T>C (p.Ser28175Pro) c.84520T>C (p.Ser28174Pro) c.81562T>C (p.Ser27188Pro) c.63178T>C (p.Ser21060Pro) c.84673T>C (p.Ser28225Pro) c.84670T>C (p.Ser28224Pro) c.84103T>C (p.Ser28035Pro) c.81445T>C (p.Ser27149Pro) c.81364T>C (p.Ser27122Pro) c.63127T>C (p.Ser21043Pro) c.52981T>C (p.Ser17661Pro) | |
2 | g.178552668A>T | CA349512660 | TTN,TTN-AS1 | c.82528T>A (p.Ser27510Thr) c.63613T>A (p.Ser21205Thr) c.63412T>A (p.Ser21138Thr) c.63037T>A (p.Ser21013Thr) c.90232T>A (p.Ser30078Thr) c.85309T>A (p.Ser28437Thr) n.447-18632A>T n.2043+10307A>T c.89329T>A (p.Ser29777Thr) c.63223T>A (p.Ser21075Thr) c.63082T>A (p.Ser21028Thr) c.89125T>A (p.Ser29709Thr) c.84523T>A (p.Ser28175Thr) c.84520T>A (p.Ser28174Thr) c.81562T>A (p.Ser27188Thr) c.63178T>A (p.Ser21060Thr) c.84673T>A (p.Ser28225Thr) c.84670T>A (p.Ser28224Thr) c.84103T>A (p.Ser28035Thr) c.81445T>A (p.Ser27149Thr) c.81364T>A (p.Ser27122Thr) c.63127T>A (p.Ser21043Thr) c.52981T>A (p.Ser17661Thr) | |
2 | g.178552669C>A | CA349512664 | TTN,TTN-AS1 | c.82527G>T (p.Trp27509Cys) c.63612G>T (p.Trp21204Cys) c.63411G>T (p.Trp21137Cys) c.63036G>T (p.Trp21012Cys) c.90231G>T (p.Trp30077Cys) c.85308G>T (p.Trp28436Cys) n.447-18631C>A n.2043+10308C>A c.89328G>T (p.Trp29776Cys) c.63222G>T (p.Trp21074Cys) c.63081G>T (p.Trp21027Cys) c.89124G>T (p.Trp29708Cys) c.84522G>T (p.Trp28174Cys) c.84519G>T (p.Trp28173Cys) c.81561G>T (p.Trp27187Cys) c.63177G>T (p.Trp21059Cys) c.84672G>T (p.Trp28224Cys) c.84669G>T (p.Trp28223Cys) c.84102G>T (p.Trp28034Cys) c.81444G>T (p.Trp27148Cys) c.81363G>T (p.Trp27121Cys) c.63126G>T (p.Trp21042Cys) c.52980G>T (p.Trp17660Cys) | |
2 | g.178552669C>G | CA349512666 | TTN,TTN-AS1 | c.82527G>C (p.Trp27509Cys) c.63612G>C (p.Trp21204Cys) c.63411G>C (p.Trp21137Cys) c.63036G>C (p.Trp21012Cys) c.90231G>C (p.Trp30077Cys) c.85308G>C (p.Trp28436Cys) n.447-18631C>G n.2043+10308C>G c.89328G>C (p.Trp29776Cys) c.63222G>C (p.Trp21074Cys) c.63081G>C (p.Trp21027Cys) c.89124G>C (p.Trp29708Cys) c.84522G>C (p.Trp28174Cys) c.84519G>C (p.Trp28173Cys) c.81561G>C (p.Trp27187Cys) c.63177G>C (p.Trp21059Cys) c.84672G>C (p.Trp28224Cys) c.84669G>C (p.Trp28223Cys) c.84102G>C (p.Trp28034Cys) c.81444G>C (p.Trp27148Cys) c.81363G>C (p.Trp27121Cys) c.63126G>C (p.Trp21042Cys) c.52980G>C (p.Trp17660Cys) | |
2 | g.178552669C>T | CA349512681 | TTN,TTN-AS1 | c.82527G>A (p.Trp27509Ter) c.63612G>A (p.Trp21204Ter) c.63411G>A (p.Trp21137Ter) c.63036G>A (p.Trp21012Ter) c.90231G>A (p.Trp30077Ter) c.85308G>A (p.Trp28436Ter) n.447-18631C>T n.2043+10308C>T c.89328G>A (p.Trp29776Ter) c.63222G>A (p.Trp21074Ter) c.63081G>A (p.Trp21027Ter) c.89124G>A (p.Trp29708Ter) c.84522G>A (p.Trp28174Ter) c.84519G>A (p.Trp28173Ter) c.81561G>A (p.Trp27187Ter) c.63177G>A (p.Trp21059Ter) c.84672G>A (p.Trp28224Ter) c.84669G>A (p.Trp28223Ter) c.84102G>A (p.Trp28034Ter) c.81444G>A (p.Trp27148Ter) c.81363G>A (p.Trp27121Ter) c.63126G>A (p.Trp21042Ter) c.52980G>A (p.Trp17660Ter) | ClinVar dbSNP |
2 | g.178552670C>A | CA349512702 | TTN,TTN-AS1 | c.82526G>T (p.Trp27509Leu) c.63611G>T (p.Trp21204Leu) c.63410G>T (p.Trp21137Leu) c.63035G>T (p.Trp21012Leu) c.90230G>T (p.Trp30077Leu) c.85307G>T (p.Trp28436Leu) n.447-18630C>A n.2043+10309C>A c.89327G>T (p.Trp29776Leu) c.63221G>T (p.Trp21074Leu) c.63080G>T (p.Trp21027Leu) c.89123G>T (p.Trp29708Leu) c.84521G>T (p.Trp28174Leu) c.84518G>T (p.Trp28173Leu) c.81560G>T (p.Trp27187Leu) c.63176G>T (p.Trp21059Leu) c.84671G>T (p.Trp28224Leu) c.84668G>T (p.Trp28223Leu) c.84101G>T (p.Trp28034Leu) c.81443G>T (p.Trp27148Leu) c.81362G>T (p.Trp27121Leu) c.63125G>T (p.Trp21042Leu) c.52979G>T (p.Trp17660Leu) | |
2 | g.178552670C>G | CA349512685 | TTN,TTN-AS1 | c.82526G>C (p.Trp27509Ser) c.63611G>C (p.Trp21204Ser) c.63410G>C (p.Trp21137Ser) c.63035G>C (p.Trp21012Ser) c.90230G>C (p.Trp30077Ser) c.85307G>C (p.Trp28436Ser) n.447-18630C>G n.2043+10309C>G c.89327G>C (p.Trp29776Ser) c.63221G>C (p.Trp21074Ser) c.63080G>C (p.Trp21027Ser) c.89123G>C (p.Trp29708Ser) c.84521G>C (p.Trp28174Ser) c.84518G>C (p.Trp28173Ser) c.81560G>C (p.Trp27187Ser) c.63176G>C (p.Trp21059Ser) c.84671G>C (p.Trp28224Ser) c.84668G>C (p.Trp28223Ser) c.84101G>C (p.Trp28034Ser) c.81443G>C (p.Trp27148Ser) c.81362G>C (p.Trp27121Ser) c.63125G>C (p.Trp21042Ser) c.52979G>C (p.Trp17660Ser) | |
2 | g.178552670C>T | CA349512687 | TTN,TTN-AS1 | c.82526G>A (p.Trp27509Ter) c.63611G>A (p.Trp21204Ter) c.63410G>A (p.Trp21137Ter) c.63035G>A (p.Trp21012Ter) c.90230G>A (p.Trp30077Ter) c.85307G>A (p.Trp28436Ter) n.447-18630C>T n.2043+10309C>T c.89327G>A (p.Trp29776Ter) c.63221G>A (p.Trp21074Ter) c.63080G>A (p.Trp21027Ter) c.89123G>A (p.Trp29708Ter) c.84521G>A (p.Trp28174Ter) c.84518G>A (p.Trp28173Ter) c.81560G>A (p.Trp27187Ter) c.63176G>A (p.Trp21059Ter) c.84671G>A (p.Trp28224Ter) c.84668G>A (p.Trp28223Ter) c.84101G>A (p.Trp28034Ter) c.81443G>A (p.Trp27148Ter) c.81362G>A (p.Trp27121Ter) c.63125G>A (p.Trp21042Ter) c.52979G>A (p.Trp17660Ter) | |
2 | g.178552671A>C | CA349512705 | TTN,TTN-AS1 | c.82525T>G (p.Trp27509Gly) c.63610T>G (p.Trp21204Gly) c.63409T>G (p.Trp21137Gly) c.63034T>G (p.Trp21012Gly) c.90229T>G (p.Trp30077Gly) c.85306T>G (p.Trp28436Gly) n.447-18629A>C n.2043+10310A>C c.89326T>G (p.Trp29776Gly) c.63220T>G (p.Trp21074Gly) c.63079T>G (p.Trp21027Gly) c.89122T>G (p.Trp29708Gly) c.84520T>G (p.Trp28174Gly) c.84517T>G (p.Trp28173Gly) c.81559T>G (p.Trp27187Gly) c.63175T>G (p.Trp21059Gly) c.84670T>G (p.Trp28224Gly) c.84667T>G (p.Trp28223Gly) c.84100T>G (p.Trp28034Gly) c.81442T>G (p.Trp27148Gly) c.81361T>G (p.Trp27121Gly) c.63124T>G (p.Trp21042Gly) c.52978T>G (p.Trp17660Gly) | |
2 | g.178552671A>G | CA349512707 | TTN,TTN-AS1 | c.82525T>C (p.Trp27509Arg) c.63610T>C (p.Trp21204Arg) c.63409T>C (p.Trp21137Arg) c.63034T>C (p.Trp21012Arg) c.90229T>C (p.Trp30077Arg) c.85306T>C (p.Trp28436Arg) n.447-18629A>G n.2043+10310A>G c.89326T>C (p.Trp29776Arg) c.63220T>C (p.Trp21074Arg) c.63079T>C (p.Trp21027Arg) c.89122T>C (p.Trp29708Arg) c.84520T>C (p.Trp28174Arg) c.84517T>C (p.Trp28173Arg) c.81559T>C (p.Trp27187Arg) c.63175T>C (p.Trp21059Arg) c.84670T>C (p.Trp28224Arg) c.84667T>C (p.Trp28223Arg) c.84100T>C (p.Trp28034Arg) c.81442T>C (p.Trp27148Arg) c.81361T>C (p.Trp27121Arg) c.63124T>C (p.Trp21042Arg) c.52978T>C (p.Trp17660Arg) | |
2 | g.178552671A>T | CA349512709 | TTN,TTN-AS1 | c.82525T>A (p.Trp27509Arg) c.63610T>A (p.Trp21204Arg) c.63409T>A (p.Trp21137Arg) c.63034T>A (p.Trp21012Arg) c.90229T>A (p.Trp30077Arg) c.85306T>A (p.Trp28436Arg) n.447-18629A>T n.2043+10310A>T c.89326T>A (p.Trp29776Arg) c.63220T>A (p.Trp21074Arg) c.63079T>A (p.Trp21027Arg) c.89122T>A (p.Trp29708Arg) c.84520T>A (p.Trp28174Arg) c.84517T>A (p.Trp28173Arg) c.81559T>A (p.Trp27187Arg) c.63175T>A (p.Trp21059Arg) c.84670T>A (p.Trp28224Arg) c.84667T>A (p.Trp28223Arg) c.84100T>A (p.Trp28034Arg) c.81442T>A (p.Trp27148Arg) c.81361T>A (p.Trp27121Arg) c.63124T>A (p.Trp21042Arg) c.52978T>A (p.Trp17660Arg) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178552672C>A | CA430245614 | TTN,TTN-AS1 | c.82524G>T (p.Thr27508=) c.63609G>T (p.Thr21203=) c.63408G>T (p.Thr21136=) c.63033G>T (p.Thr21011=) c.90228G>T (p.Thr30076=) c.85305G>T (p.Thr28435=) n.447-18628C>A n.2043+10311C>A c.89325G>T (p.Thr29775=) c.63219G>T (p.Thr21073=) c.63078G>T (p.Thr21026=) c.89121G>T (p.Thr29707=) c.84519G>T (p.Thr28173=) c.84516G>T (p.Thr28172=) c.81558G>T (p.Thr27186=) c.63174G>T (p.Thr21058=) c.84669G>T (p.Thr28223=) c.84666G>T (p.Thr28222=) c.84099G>T (p.Thr28033=) c.81441G>T (p.Thr27147=) c.81360G>T (p.Thr27120=) c.63123G>T (p.Thr21041=) c.52977G>T (p.Thr17659=) | gnomAD v4 |
2 | g.178552672C= | CA1310522189 | TTN,TTN-AS1 | c.82524G= (p.Thr27508=) c.63609G= (p.Thr21203=) c.63408G= (p.Thr21136=) c.63033G= (p.Thr21011=) c.90228G= (p.Thr30076=) c.85305G= (p.Thr28435=) n.447-18628C= n.2043+10311C= c.89325G= (p.Thr29775=) c.63219G= (p.Thr21073=) c.63078G= (p.Thr21026=) c.89121G= (p.Thr29707=) c.84519G= (p.Thr28173=) c.84516G= (p.Thr28172=) c.81558G= (p.Thr27186=) c.63174G= (p.Thr21058=) c.84669G= (p.Thr28223=) c.84666G= (p.Thr28222=) c.84099G= (p.Thr28033=) c.81441G= (p.Thr27147=) c.81360G= (p.Thr27120=) c.63123G= (p.Thr21041=) c.52977G= (p.Thr17659=) | |
2 | g.178552672C>G | CA430245616 | TTN,TTN-AS1 | c.82524G>C (p.Thr27508=) c.63609G>C (p.Thr21203=) c.63408G>C (p.Thr21136=) c.63033G>C (p.Thr21011=) c.90228G>C (p.Thr30076=) c.85305G>C (p.Thr28435=) n.447-18628C>G n.2043+10311C>G c.89325G>C (p.Thr29775=) c.63219G>C (p.Thr21073=) c.63078G>C (p.Thr21026=) c.89121G>C (p.Thr29707=) c.84519G>C (p.Thr28173=) c.84516G>C (p.Thr28172=) c.81558G>C (p.Thr27186=) c.63174G>C (p.Thr21058=) c.84669G>C (p.Thr28223=) c.84666G>C (p.Thr28222=) c.84099G>C (p.Thr28033=) c.81441G>C (p.Thr27147=) c.81360G>C (p.Thr27120=) c.63123G>C (p.Thr21041=) c.52977G>C (p.Thr17659=) | |
2 | g.178552672C>T | CA1987816 | TTN,TTN-AS1 | c.82524G>A (p.Thr27508=) c.63609G>A (p.Thr21203=) c.63408G>A (p.Thr21136=) c.63033G>A (p.Thr21011=) c.90228G>A (p.Thr30076=) c.85305G>A (p.Thr28435=) n.447-18628C>T n.2043+10311C>T c.89325G>A (p.Thr29775=) c.63219G>A (p.Thr21073=) c.63078G>A (p.Thr21026=) c.89121G>A (p.Thr29707=) c.84519G>A (p.Thr28173=) c.84516G>A (p.Thr28172=) c.81558G>A (p.Thr27186=) c.63174G>A (p.Thr21058=) c.84669G>A (p.Thr28223=) c.84666G>A (p.Thr28222=) c.84099G>A (p.Thr28033=) c.81441G>A (p.Thr27147=) c.81360G>A (p.Thr27120=) c.63123G>A (p.Thr21041=) c.52977G>A (p.Thr17659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178552673G>A | CA181638 | TTN,TTN-AS1 | c.82523C>T (p.Thr27508Met) c.63608C>T (p.Thr21203Met) c.63407C>T (p.Thr21136Met) c.63032C>T (p.Thr21011Met) c.90227C>T (p.Thr30076Met) c.85304C>T (p.Thr28435Met) n.447-18627G>A n.2043+10312G>A c.89324C>T (p.Thr29775Met) c.63218C>T (p.Thr21073Met) c.63077C>T (p.Thr21026Met) c.89120C>T (p.Thr29707Met) c.84518C>T (p.Thr28173Met) c.84515C>T (p.Thr28172Met) c.81557C>T (p.Thr27186Met) c.63173C>T (p.Thr21058Met) c.84668C>T (p.Thr28223Met) c.84665C>T (p.Thr28222Met) c.84098C>T (p.Thr28033Met) c.81440C>T (p.Thr27147Met) c.81359C>T (p.Thr27120Met) c.63122C>T (p.Thr21041Met) c.52976C>T (p.Thr17659Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178552673G>C | CA349512721 | TTN,TTN-AS1 | c.82523C>G (p.Thr27508Arg) c.63608C>G (p.Thr21203Arg) c.63407C>G (p.Thr21136Arg) c.63032C>G (p.Thr21011Arg) c.90227C>G (p.Thr30076Arg) c.85304C>G (p.Thr28435Arg) n.447-18627G>C n.2043+10312G>C c.89324C>G (p.Thr29775Arg) c.63218C>G (p.Thr21073Arg) c.63077C>G (p.Thr21026Arg) c.89120C>G (p.Thr29707Arg) c.84518C>G (p.Thr28173Arg) c.84515C>G (p.Thr28172Arg) c.81557C>G (p.Thr27186Arg) c.63173C>G (p.Thr21058Arg) c.84668C>G (p.Thr28223Arg) c.84665C>G (p.Thr28222Arg) c.84098C>G (p.Thr28033Arg) c.81440C>G (p.Thr27147Arg) c.81359C>G (p.Thr27120Arg) c.63122C>G (p.Thr21041Arg) c.52976C>G (p.Thr17659Arg) | |
2 | g.178552673G= | CA1310522191 | TTN,TTN-AS1 | c.82523C= (p.Thr27508=) c.63608C= (p.Thr21203=) c.63407C= (p.Thr21136=) c.63032C= (p.Thr21011=) c.90227C= (p.Thr30076=) c.85304C= (p.Thr28435=) n.447-18627G= n.2043+10312G= c.89324C= (p.Thr29775=) c.63218C= (p.Thr21073=) c.63077C= (p.Thr21026=) c.89120C= (p.Thr29707=) c.84518C= (p.Thr28173=) c.84515C= (p.Thr28172=) c.81557C= (p.Thr27186=) c.63173C= (p.Thr21058=) c.84668C= (p.Thr28223=) c.84665C= (p.Thr28222=) c.84098C= (p.Thr28033=) c.81440C= (p.Thr27147=) c.81359C= (p.Thr27120=) c.63122C= (p.Thr21041=) c.52976C= (p.Thr17659=) | |
2 | g.178552673G>T | CA349512733 | TTN,TTN-AS1 | c.82523C>A (p.Thr27508Lys) c.63608C>A (p.Thr21203Lys) c.63407C>A (p.Thr21136Lys) c.63032C>A (p.Thr21011Lys) c.90227C>A (p.Thr30076Lys) c.85304C>A (p.Thr28435Lys) n.447-18627G>T n.2043+10312G>T c.89324C>A (p.Thr29775Lys) c.63218C>A (p.Thr21073Lys) c.63077C>A (p.Thr21026Lys) c.89120C>A (p.Thr29707Lys) c.84518C>A (p.Thr28173Lys) c.84515C>A (p.Thr28172Lys) c.81557C>A (p.Thr27186Lys) c.63173C>A (p.Thr21058Lys) c.84668C>A (p.Thr28223Lys) c.84665C>A (p.Thr28222Lys) c.84098C>A (p.Thr28033Lys) c.81440C>A (p.Thr27147Lys) c.81359C>A (p.Thr27120Lys) c.63122C>A (p.Thr21041Lys) c.52976C>A (p.Thr17659Lys) | |
2 | g.178552674T>A | CA349512744 | TTN,TTN-AS1 | c.82522A>T (p.Thr27508Ser) c.63607A>T (p.Thr21203Ser) c.63406A>T (p.Thr21136Ser) c.63031A>T (p.Thr21011Ser) c.90226A>T (p.Thr30076Ser) c.85303A>T (p.Thr28435Ser) n.447-18626T>A n.2043+10313T>A c.89323A>T (p.Thr29775Ser) c.63217A>T (p.Thr21073Ser) c.63076A>T (p.Thr21026Ser) c.89119A>T (p.Thr29707Ser) c.84517A>T (p.Thr28173Ser) c.84514A>T (p.Thr28172Ser) c.81556A>T (p.Thr27186Ser) c.63172A>T (p.Thr21058Ser) c.84667A>T (p.Thr28223Ser) c.84664A>T (p.Thr28222Ser) c.84097A>T (p.Thr28033Ser) c.81439A>T (p.Thr27147Ser) c.81358A>T (p.Thr27120Ser) c.63121A>T (p.Thr21041Ser) c.52975A>T (p.Thr17659Ser) |