| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178551055A= | CA1310520688 | TTN,TTN-AS1 | c.83772T= (p.Tyr27924=) c.64857T= (p.Tyr21619=) c.64656T= (p.Tyr21552=) c.64281T= (p.Tyr21427=) c.91476T= (p.Tyr30492=) c.86553T= (p.Tyr28851=) n.447-20245A= n.2043+8694A= c.90573T= (p.Tyr30191=) c.64467T= (p.Tyr21489=) c.64326T= (p.Tyr21442=) c.90369T= (p.Tyr30123=) c.85767T= (p.Tyr28589=) c.85764T= (p.Tyr28588=) c.82806T= (p.Tyr27602=) c.64422T= (p.Tyr21474=) c.85917T= (p.Tyr28639=) c.85914T= (p.Tyr28638=) c.85347T= (p.Tyr28449=) c.82689T= (p.Tyr27563=) c.82608T= (p.Tyr27536=) c.64371T= (p.Tyr21457=) c.54225T= (p.Tyr18075=) | |
| 2 | g.178551055A>C | CA273585 | TTN,TTN-AS1 | c.83772T>G (p.Tyr27924Ter) c.64857T>G (p.Tyr21619Ter) c.64656T>G (p.Tyr21552Ter) c.64281T>G (p.Tyr21427Ter) c.91476T>G (p.Tyr30492Ter) c.86553T>G (p.Tyr28851Ter) n.447-20245A>C n.2043+8694A>C c.90573T>G (p.Tyr30191Ter) c.64467T>G (p.Tyr21489Ter) c.64326T>G (p.Tyr21442Ter) c.90369T>G (p.Tyr30123Ter) c.85767T>G (p.Tyr28589Ter) c.85764T>G (p.Tyr28588Ter) c.82806T>G (p.Tyr27602Ter) c.64422T>G (p.Tyr21474Ter) c.85917T>G (p.Tyr28639Ter) c.85914T>G (p.Tyr28638Ter) c.85347T>G (p.Tyr28449Ter) c.82689T>G (p.Tyr27563Ter) c.82608T>G (p.Tyr27536Ter) c.64371T>G (p.Tyr21457Ter) c.54225T>G (p.Tyr18075Ter) | ClinVar dbSNP |
| 2 | g.178551055A>G | CA430103709 | TTN,TTN-AS1 | c.83772T>C (p.Tyr27924=) c.64857T>C (p.Tyr21619=) c.64656T>C (p.Tyr21552=) c.64281T>C (p.Tyr21427=) c.91476T>C (p.Tyr30492=) c.86553T>C (p.Tyr28851=) n.447-20245A>G n.2043+8694A>G c.90573T>C (p.Tyr30191=) c.64467T>C (p.Tyr21489=) c.64326T>C (p.Tyr21442=) c.90369T>C (p.Tyr30123=) c.85767T>C (p.Tyr28589=) c.85764T>C (p.Tyr28588=) c.82806T>C (p.Tyr27602=) c.64422T>C (p.Tyr21474=) c.85917T>C (p.Tyr28639=) c.85914T>C (p.Tyr28638=) c.85347T>C (p.Tyr28449=) c.82689T>C (p.Tyr27563=) c.82608T>C (p.Tyr27536=) c.64371T>C (p.Tyr21457=) c.54225T>C (p.Tyr18075=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178551055A>T | CA349501119 | TTN,TTN-AS1 | c.83772T>A (p.Tyr27924Ter) c.64857T>A (p.Tyr21619Ter) c.64656T>A (p.Tyr21552Ter) c.64281T>A (p.Tyr21427Ter) c.91476T>A (p.Tyr30492Ter) c.86553T>A (p.Tyr28851Ter) n.447-20245A>T n.2043+8694A>T c.90573T>A (p.Tyr30191Ter) c.64467T>A (p.Tyr21489Ter) c.64326T>A (p.Tyr21442Ter) c.90369T>A (p.Tyr30123Ter) c.85767T>A (p.Tyr28589Ter) c.85764T>A (p.Tyr28588Ter) c.82806T>A (p.Tyr27602Ter) c.64422T>A (p.Tyr21474Ter) c.85917T>A (p.Tyr28639Ter) c.85914T>A (p.Tyr28638Ter) c.85347T>A (p.Tyr28449Ter) c.82689T>A (p.Tyr27563Ter) c.82608T>A (p.Tyr27536Ter) c.64371T>A (p.Tyr21457Ter) c.54225T>A (p.Tyr18075Ter) | |
| 2 | g.178551056T>A | CA349501130 | TTN,TTN-AS1 | c.83771A>T (p.Tyr27924Phe) c.64856A>T (p.Tyr21619Phe) c.64655A>T (p.Tyr21552Phe) c.64280A>T (p.Tyr21427Phe) c.91475A>T (p.Tyr30492Phe) c.86552A>T (p.Tyr28851Phe) n.447-20244T>A n.2043+8695T>A c.90572A>T (p.Tyr30191Phe) c.64466A>T (p.Tyr21489Phe) c.64325A>T (p.Tyr21442Phe) c.90368A>T (p.Tyr30123Phe) c.85766A>T (p.Tyr28589Phe) c.85763A>T (p.Tyr28588Phe) c.82805A>T (p.Tyr27602Phe) c.64421A>T (p.Tyr21474Phe) c.85916A>T (p.Tyr28639Phe) c.85913A>T (p.Tyr28638Phe) c.85346A>T (p.Tyr28449Phe) c.82688A>T (p.Tyr27563Phe) c.82607A>T (p.Tyr27536Phe) c.64370A>T (p.Tyr21457Phe) c.54224A>T (p.Tyr18075Phe) | |
| 2 | g.178551056T>C | CA310893 | TTN,TTN-AS1 | c.83771A>G (p.Tyr27924Cys) c.64856A>G (p.Tyr21619Cys) c.64655A>G (p.Tyr21552Cys) c.64280A>G (p.Tyr21427Cys) c.91475A>G (p.Tyr30492Cys) c.86552A>G (p.Tyr28851Cys) n.447-20244T>C n.2043+8695T>C c.90572A>G (p.Tyr30191Cys) c.64466A>G (p.Tyr21489Cys) c.64325A>G (p.Tyr21442Cys) c.90368A>G (p.Tyr30123Cys) c.85766A>G (p.Tyr28589Cys) c.85763A>G (p.Tyr28588Cys) c.82805A>G (p.Tyr27602Cys) c.64421A>G (p.Tyr21474Cys) c.85916A>G (p.Tyr28639Cys) c.85913A>G (p.Tyr28638Cys) c.85346A>G (p.Tyr28449Cys) c.82688A>G (p.Tyr27563Cys) c.82607A>G (p.Tyr27536Cys) c.64370A>G (p.Tyr21457Cys) c.54224A>G (p.Tyr18075Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551056T>G | CA349501123 | TTN,TTN-AS1 | c.83771A>C (p.Tyr27924Ser) c.64856A>C (p.Tyr21619Ser) c.64655A>C (p.Tyr21552Ser) c.64280A>C (p.Tyr21427Ser) c.91475A>C (p.Tyr30492Ser) c.86552A>C (p.Tyr28851Ser) n.447-20244T>G n.2043+8695T>G c.90572A>C (p.Tyr30191Ser) c.64466A>C (p.Tyr21489Ser) c.64325A>C (p.Tyr21442Ser) c.90368A>C (p.Tyr30123Ser) c.85766A>C (p.Tyr28589Ser) c.85763A>C (p.Tyr28588Ser) c.82805A>C (p.Tyr27602Ser) c.64421A>C (p.Tyr21474Ser) c.85916A>C (p.Tyr28639Ser) c.85913A>C (p.Tyr28638Ser) c.85346A>C (p.Tyr28449Ser) c.82688A>C (p.Tyr27563Ser) c.82607A>C (p.Tyr27536Ser) c.64370A>C (p.Tyr21457Ser) c.54224A>C (p.Tyr18075Ser) | |
| 2 | g.178551056T= | CA1310520692 | TTN,TTN-AS1 | c.83771A= (p.Tyr27924=) c.64856A= (p.Tyr21619=) c.64655A= (p.Tyr21552=) c.64280A= (p.Tyr21427=) c.91475A= (p.Tyr30492=) c.86552A= (p.Tyr28851=) n.447-20244T= n.2043+8695T= c.90572A= (p.Tyr30191=) c.64466A= (p.Tyr21489=) c.64325A= (p.Tyr21442=) c.90368A= (p.Tyr30123=) c.85766A= (p.Tyr28589=) c.85763A= (p.Tyr28588=) c.82805A= (p.Tyr27602=) c.64421A= (p.Tyr21474=) c.85916A= (p.Tyr28639=) c.85913A= (p.Tyr28638=) c.85346A= (p.Tyr28449=) c.82688A= (p.Tyr27563=) c.82607A= (p.Tyr27536=) c.64370A= (p.Tyr21457=) c.54224A= (p.Tyr18075=) | |
| 2 | g.178551057A= | CA1310520694 | TTN,TTN-AS1 | c.83770T= (p.Tyr27924=) c.64855T= (p.Tyr21619=) c.64654T= (p.Tyr21552=) c.64279T= (p.Tyr21427=) c.91474T= (p.Tyr30492=) c.86551T= (p.Tyr28851=) n.447-20243A= n.2043+8696A= c.90571T= (p.Tyr30191=) c.64465T= (p.Tyr21489=) c.64324T= (p.Tyr21442=) c.90367T= (p.Tyr30123=) c.85765T= (p.Tyr28589=) c.85762T= (p.Tyr28588=) c.82804T= (p.Tyr27602=) c.64420T= (p.Tyr21474=) c.85915T= (p.Tyr28639=) c.85912T= (p.Tyr28638=) c.85345T= (p.Tyr28449=) c.82687T= (p.Tyr27563=) c.82606T= (p.Tyr27536=) c.64369T= (p.Tyr21457=) c.54223T= (p.Tyr18075=) | |
| 2 | g.178551057A>C | CA349501134 | TTN,TTN-AS1 | c.83770T>G (p.Tyr27924Asp) c.64855T>G (p.Tyr21619Asp) c.64654T>G (p.Tyr21552Asp) c.64279T>G (p.Tyr21427Asp) c.91474T>G (p.Tyr30492Asp) c.86551T>G (p.Tyr28851Asp) n.447-20243A>C n.2043+8696A>C c.90571T>G (p.Tyr30191Asp) c.64465T>G (p.Tyr21489Asp) c.64324T>G (p.Tyr21442Asp) c.90367T>G (p.Tyr30123Asp) c.85765T>G (p.Tyr28589Asp) c.85762T>G (p.Tyr28588Asp) c.82804T>G (p.Tyr27602Asp) c.64420T>G (p.Tyr21474Asp) c.85915T>G (p.Tyr28639Asp) c.85912T>G (p.Tyr28638Asp) c.85345T>G (p.Tyr28449Asp) c.82687T>G (p.Tyr27563Asp) c.82606T>G (p.Tyr27536Asp) c.64369T>G (p.Tyr21457Asp) c.54223T>G (p.Tyr18075Asp) | |
| 2 | g.178551057A>G | CA349501138 | TTN,TTN-AS1 | c.83770T>C (p.Tyr27924His) c.64855T>C (p.Tyr21619His) c.64654T>C (p.Tyr21552His) c.64279T>C (p.Tyr21427His) c.91474T>C (p.Tyr30492His) c.86551T>C (p.Tyr28851His) n.447-20243A>G n.2043+8696A>G c.90571T>C (p.Tyr30191His) c.64465T>C (p.Tyr21489His) c.64324T>C (p.Tyr21442His) c.90367T>C (p.Tyr30123His) c.85765T>C (p.Tyr28589His) c.85762T>C (p.Tyr28588His) c.82804T>C (p.Tyr27602His) c.64420T>C (p.Tyr21474His) c.85915T>C (p.Tyr28639His) c.85912T>C (p.Tyr28638His) c.85345T>C (p.Tyr28449His) c.82687T>C (p.Tyr27563His) c.82606T>C (p.Tyr27536His) c.64369T>C (p.Tyr21457His) c.54223T>C (p.Tyr18075His) | dbSNP |
| 2 | g.178551057A>T | CA349501139 | TTN,TTN-AS1 | c.83770T>A (p.Tyr27924Asn) c.64855T>A (p.Tyr21619Asn) c.64654T>A (p.Tyr21552Asn) c.64279T>A (p.Tyr21427Asn) c.91474T>A (p.Tyr30492Asn) c.86551T>A (p.Tyr28851Asn) n.447-20243A>T n.2043+8696A>T c.90571T>A (p.Tyr30191Asn) c.64465T>A (p.Tyr21489Asn) c.64324T>A (p.Tyr21442Asn) c.90367T>A (p.Tyr30123Asn) c.85765T>A (p.Tyr28589Asn) c.85762T>A (p.Tyr28588Asn) c.82804T>A (p.Tyr27602Asn) c.64420T>A (p.Tyr21474Asn) c.85915T>A (p.Tyr28639Asn) c.85912T>A (p.Tyr28638Asn) c.85345T>A (p.Tyr28449Asn) c.82687T>A (p.Tyr27563Asn) c.82606T>A (p.Tyr27536Asn) c.64369T>A (p.Tyr21457Asn) c.54223T>A (p.Tyr18075Asn) | |
| 2 | g.178551058G>A | CA430103710 | TTN,TTN-AS1 | c.83769C>T (p.Arg27923=) c.64854C>T (p.Arg21618=) c.64653C>T (p.Arg21551=) c.64278C>T (p.Arg21426=) c.91473C>T (p.Arg30491=) c.86550C>T (p.Arg28850=) n.447-20242G>A n.2043+8697G>A c.90570C>T (p.Arg30190=) c.64464C>T (p.Arg21488=) c.64323C>T (p.Arg21441=) c.90366C>T (p.Arg30122=) c.85764C>T (p.Arg28588=) c.85761C>T (p.Arg28587=) c.82803C>T (p.Arg27601=) c.64419C>T (p.Arg21473=) c.85914C>T (p.Arg28638=) c.85911C>T (p.Arg28637=) c.85344C>T (p.Arg28448=) c.82686C>T (p.Arg27562=) c.82605C>T (p.Arg27535=) c.64368C>T (p.Arg21456=) c.54222C>T (p.Arg18074=) | dbSNP |
| 2 | g.178551058G>C | CA430103711 | TTN,TTN-AS1 | c.83769C>G (p.Arg27923=) c.64854C>G (p.Arg21618=) c.64653C>G (p.Arg21551=) c.64278C>G (p.Arg21426=) c.91473C>G (p.Arg30491=) c.86550C>G (p.Arg28850=) n.447-20242G>C n.2043+8697G>C c.90570C>G (p.Arg30190=) c.64464C>G (p.Arg21488=) c.64323C>G (p.Arg21441=) c.90366C>G (p.Arg30122=) c.85764C>G (p.Arg28588=) c.85761C>G (p.Arg28587=) c.82803C>G (p.Arg27601=) c.64419C>G (p.Arg21473=) c.85914C>G (p.Arg28638=) c.85911C>G (p.Arg28637=) c.85344C>G (p.Arg28448=) c.82686C>G (p.Arg27562=) c.82605C>G (p.Arg27535=) c.64368C>G (p.Arg21456=) c.54222C>G (p.Arg18074=) | |
| 2 | g.178551058G= | CA1310520696 | TTN,TTN-AS1 | c.83769C= (p.Arg27923=) c.64854C= (p.Arg21618=) c.64653C= (p.Arg21551=) c.64278C= (p.Arg21426=) c.91473C= (p.Arg30491=) c.86550C= (p.Arg28850=) n.447-20242G= n.2043+8697G= c.90570C= (p.Arg30190=) c.64464C= (p.Arg21488=) c.64323C= (p.Arg21441=) c.90366C= (p.Arg30122=) c.85764C= (p.Arg28588=) c.85761C= (p.Arg28587=) c.82803C= (p.Arg27601=) c.64419C= (p.Arg21473=) c.85914C= (p.Arg28638=) c.85911C= (p.Arg28637=) c.85344C= (p.Arg28448=) c.82686C= (p.Arg27562=) c.82605C= (p.Arg27535=) c.64368C= (p.Arg21456=) c.54222C= (p.Arg18074=) | |
| 2 | g.178551058G>T | CA430103712 | TTN,TTN-AS1 | c.83769C>A (p.Arg27923=) c.64854C>A (p.Arg21618=) c.64653C>A (p.Arg21551=) c.64278C>A (p.Arg21426=) c.91473C>A (p.Arg30491=) c.86550C>A (p.Arg28850=) n.447-20242G>T n.2043+8697G>T c.90570C>A (p.Arg30190=) c.64464C>A (p.Arg21488=) c.64323C>A (p.Arg21441=) c.90366C>A (p.Arg30122=) c.85764C>A (p.Arg28588=) c.85761C>A (p.Arg28587=) c.82803C>A (p.Arg27601=) c.64419C>A (p.Arg21473=) c.85914C>A (p.Arg28638=) c.85911C>A (p.Arg28637=) c.85344C>A (p.Arg28448=) c.82686C>A (p.Arg27562=) c.82605C>A (p.Arg27535=) c.64368C>A (p.Arg21456=) c.54222C>A (p.Arg18074=) | |
| 2 | g.178551059C>A | CA349501142 | TTN,TTN-AS1 | c.83768G>T (p.Arg27923Leu) c.64853G>T (p.Arg21618Leu) c.64652G>T (p.Arg21551Leu) c.64277G>T (p.Arg21426Leu) c.91472G>T (p.Arg30491Leu) c.86549G>T (p.Arg28850Leu) n.447-20241C>A n.2043+8698C>A c.90569G>T (p.Arg30190Leu) c.64463G>T (p.Arg21488Leu) c.64322G>T (p.Arg21441Leu) c.90365G>T (p.Arg30122Leu) c.85763G>T (p.Arg28588Leu) c.85760G>T (p.Arg28587Leu) c.82802G>T (p.Arg27601Leu) c.64418G>T (p.Arg21473Leu) c.85913G>T (p.Arg28638Leu) c.85910G>T (p.Arg28637Leu) c.85343G>T (p.Arg28448Leu) c.82685G>T (p.Arg27562Leu) c.82604G>T (p.Arg27535Leu) c.64367G>T (p.Arg21456Leu) c.54221G>T (p.Arg18074Leu) | |
| 2 | g.178551059C= | CA1310520698 | TTN,TTN-AS1 | c.83768G= (p.Arg27923=) c.64853G= (p.Arg21618=) c.64652G= (p.Arg21551=) c.64277G= (p.Arg21426=) c.91472G= (p.Arg30491=) c.86549G= (p.Arg28850=) n.447-20241C= n.2043+8698C= c.90569G= (p.Arg30190=) c.64463G= (p.Arg21488=) c.64322G= (p.Arg21441=) c.90365G= (p.Arg30122=) c.85763G= (p.Arg28588=) c.85760G= (p.Arg28587=) c.82802G= (p.Arg27601=) c.64418G= (p.Arg21473=) c.85913G= (p.Arg28638=) c.85910G= (p.Arg28637=) c.85343G= (p.Arg28448=) c.82685G= (p.Arg27562=) c.82604G= (p.Arg27535=) c.64367G= (p.Arg21456=) c.54221G= (p.Arg18074=) | |
| 2 | g.178551059C>G | CA349501143 | TTN,TTN-AS1 | c.83768G>C (p.Arg27923Pro) c.64853G>C (p.Arg21618Pro) c.64652G>C (p.Arg21551Pro) c.64277G>C (p.Arg21426Pro) c.91472G>C (p.Arg30491Pro) c.86549G>C (p.Arg28850Pro) n.447-20241C>G n.2043+8698C>G c.90569G>C (p.Arg30190Pro) c.64463G>C (p.Arg21488Pro) c.64322G>C (p.Arg21441Pro) c.90365G>C (p.Arg30122Pro) c.85763G>C (p.Arg28588Pro) c.85760G>C (p.Arg28587Pro) c.82802G>C (p.Arg27601Pro) c.64418G>C (p.Arg21473Pro) c.85913G>C (p.Arg28638Pro) c.85910G>C (p.Arg28637Pro) c.85343G>C (p.Arg28448Pro) c.82685G>C (p.Arg27562Pro) c.82604G>C (p.Arg27535Pro) c.64367G>C (p.Arg21456Pro) c.54221G>C (p.Arg18074Pro) | |
| 2 | g.178551059C>T | CA1987625 | TTN,TTN-AS1 | c.83768G>A (p.Arg27923His) c.64853G>A (p.Arg21618His) c.64652G>A (p.Arg21551His) c.64277G>A (p.Arg21426His) c.91472G>A (p.Arg30491His) c.86549G>A (p.Arg28850His) n.447-20241C>T n.2043+8698C>T c.90569G>A (p.Arg30190His) c.64463G>A (p.Arg21488His) c.64322G>A (p.Arg21441His) c.90365G>A (p.Arg30122His) c.85763G>A (p.Arg28588His) c.85760G>A (p.Arg28587His) c.82802G>A (p.Arg27601His) c.64418G>A (p.Arg21473His) c.85913G>A (p.Arg28638His) c.85910G>A (p.Arg28637His) c.85343G>A (p.Arg28448His) c.82685G>A (p.Arg27562His) c.82604G>A (p.Arg27535His) c.64367G>A (p.Arg21456His) c.54221G>A (p.Arg18074His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551060G>A | CA349501144 | TTN,TTN-AS1 | c.83767C>T (p.Arg27923Cys) c.64852C>T (p.Arg21618Cys) c.64651C>T (p.Arg21551Cys) c.64276C>T (p.Arg21426Cys) c.91471C>T (p.Arg30491Cys) c.86548C>T (p.Arg28850Cys) n.447-20240G>A n.2043+8699G>A c.90568C>T (p.Arg30190Cys) c.64462C>T (p.Arg21488Cys) c.64321C>T (p.Arg21441Cys) c.90364C>T (p.Arg30122Cys) c.85762C>T (p.Arg28588Cys) c.85759C>T (p.Arg28587Cys) c.82801C>T (p.Arg27601Cys) c.64417C>T (p.Arg21473Cys) c.85912C>T (p.Arg28638Cys) c.85909C>T (p.Arg28637Cys) c.85342C>T (p.Arg28448Cys) c.82684C>T (p.Arg27562Cys) c.82603C>T (p.Arg27535Cys) c.64366C>T (p.Arg21456Cys) c.54220C>T (p.Arg18074Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178551060G>C | CA349501145 | TTN,TTN-AS1 | c.83767C>G (p.Arg27923Gly) c.64852C>G (p.Arg21618Gly) c.64651C>G (p.Arg21551Gly) c.64276C>G (p.Arg21426Gly) c.91471C>G (p.Arg30491Gly) c.86548C>G (p.Arg28850Gly) n.447-20240G>C n.2043+8699G>C c.90568C>G (p.Arg30190Gly) c.64462C>G (p.Arg21488Gly) c.64321C>G (p.Arg21441Gly) c.90364C>G (p.Arg30122Gly) c.85762C>G (p.Arg28588Gly) c.85759C>G (p.Arg28587Gly) c.82801C>G (p.Arg27601Gly) c.64417C>G (p.Arg21473Gly) c.85912C>G (p.Arg28638Gly) c.85909C>G (p.Arg28637Gly) c.85342C>G (p.Arg28448Gly) c.82684C>G (p.Arg27562Gly) c.82603C>G (p.Arg27535Gly) c.64366C>G (p.Arg21456Gly) c.54220C>G (p.Arg18074Gly) | gnomAD v4 |
| 2 | g.178551060G= | CA1310520700 | TTN,TTN-AS1 | c.83767C= (p.Arg27923=) c.64852C= (p.Arg21618=) c.64651C= (p.Arg21551=) c.64276C= (p.Arg21426=) c.91471C= (p.Arg30491=) c.86548C= (p.Arg28850=) n.447-20240G= n.2043+8699G= c.90568C= (p.Arg30190=) c.64462C= (p.Arg21488=) c.64321C= (p.Arg21441=) c.90364C= (p.Arg30122=) c.85762C= (p.Arg28588=) c.85759C= (p.Arg28587=) c.82801C= (p.Arg27601=) c.64417C= (p.Arg21473=) c.85912C= (p.Arg28638=) c.85909C= (p.Arg28637=) c.85342C= (p.Arg28448=) c.82684C= (p.Arg27562=) c.82603C= (p.Arg27535=) c.64366C= (p.Arg21456=) c.54220C= (p.Arg18074=) | |
| 2 | g.178551060G>T | CA349501146 | TTN,TTN-AS1 | c.83767C>A (p.Arg27923Ser) c.64852C>A (p.Arg21618Ser) c.64651C>A (p.Arg21551Ser) c.64276C>A (p.Arg21426Ser) c.91471C>A (p.Arg30491Ser) c.86548C>A (p.Arg28850Ser) n.447-20240G>T n.2043+8699G>T c.90568C>A (p.Arg30190Ser) c.64462C>A (p.Arg21488Ser) c.64321C>A (p.Arg21441Ser) c.90364C>A (p.Arg30122Ser) c.85762C>A (p.Arg28588Ser) c.85759C>A (p.Arg28587Ser) c.82801C>A (p.Arg27601Ser) c.64417C>A (p.Arg21473Ser) c.85912C>A (p.Arg28638Ser) c.85909C>A (p.Arg28637Ser) c.85342C>A (p.Arg28448Ser) c.82684C>A (p.Arg27562Ser) c.82603C>A (p.Arg27535Ser) c.64366C>A (p.Arg21456Ser) c.54220C>A (p.Arg18074Ser) | |
| 2 | g.178551061A>C | CA349501147 | TTN,TTN-AS1 | c.83766T>G (p.Asp27922Glu) c.64851T>G (p.Asp21617Glu) c.64650T>G (p.Asp21550Glu) c.64275T>G (p.Asp21425Glu) c.91470T>G (p.Asp30490Glu) c.86547T>G (p.Asp28849Glu) n.447-20239A>C n.2043+8700A>C c.90567T>G (p.Asp30189Glu) c.64461T>G (p.Asp21487Glu) c.64320T>G (p.Asp21440Glu) c.90363T>G (p.Asp30121Glu) c.85761T>G (p.Asp28587Glu) c.85758T>G (p.Asp28586Glu) c.82800T>G (p.Asp27600Glu) c.64416T>G (p.Asp21472Glu) c.85911T>G (p.Asp28637Glu) c.85908T>G (p.Asp28636Glu) c.85341T>G (p.Asp28447Glu) c.82683T>G (p.Asp27561Glu) c.82602T>G (p.Asp27534Glu) c.64365T>G (p.Asp21455Glu) c.54219T>G (p.Asp18073Glu) | |
| 2 | g.178551061A>G | CA430103714 | TTN,TTN-AS1 | c.83766T>C (p.Asp27922=) c.64851T>C (p.Asp21617=) c.64650T>C (p.Asp21550=) c.64275T>C (p.Asp21425=) c.91470T>C (p.Asp30490=) c.86547T>C (p.Asp28849=) n.447-20239A>G n.2043+8700A>G c.90567T>C (p.Asp30189=) c.64461T>C (p.Asp21487=) c.64320T>C (p.Asp21440=) c.90363T>C (p.Asp30121=) c.85761T>C (p.Asp28587=) c.85758T>C (p.Asp28586=) c.82800T>C (p.Asp27600=) c.64416T>C (p.Asp21472=) c.85911T>C (p.Asp28637=) c.85908T>C (p.Asp28636=) c.85341T>C (p.Asp28447=) c.82683T>C (p.Asp27561=) c.82602T>C (p.Asp27534=) c.64365T>C (p.Asp21455=) c.54219T>C (p.Asp18073=) | gnomAD v4 |
| 2 | g.178551061A>T | CA349501148 | TTN,TTN-AS1 | c.83766T>A (p.Asp27922Glu) c.64851T>A (p.Asp21617Glu) c.64650T>A (p.Asp21550Glu) c.64275T>A (p.Asp21425Glu) c.91470T>A (p.Asp30490Glu) c.86547T>A (p.Asp28849Glu) n.447-20239A>T n.2043+8700A>T c.90567T>A (p.Asp30189Glu) c.64461T>A (p.Asp21487Glu) c.64320T>A (p.Asp21440Glu) c.90363T>A (p.Asp30121Glu) c.85761T>A (p.Asp28587Glu) c.85758T>A (p.Asp28586Glu) c.82800T>A (p.Asp27600Glu) c.64416T>A (p.Asp21472Glu) c.85911T>A (p.Asp28637Glu) c.85908T>A (p.Asp28636Glu) c.85341T>A (p.Asp28447Glu) c.82683T>A (p.Asp27561Glu) c.82602T>A (p.Asp27534Glu) c.64365T>A (p.Asp21455Glu) c.54219T>A (p.Asp18073Glu) | |
| 2 | g.178551062T>A | CA349501149 | TTN,TTN-AS1 | c.83765A>T (p.Asp27922Val) c.64850A>T (p.Asp21617Val) c.64649A>T (p.Asp21550Val) c.64274A>T (p.Asp21425Val) c.91469A>T (p.Asp30490Val) c.86546A>T (p.Asp28849Val) n.447-20238T>A n.2043+8701T>A c.90566A>T (p.Asp30189Val) c.64460A>T (p.Asp21487Val) c.64319A>T (p.Asp21440Val) c.90362A>T (p.Asp30121Val) c.85760A>T (p.Asp28587Val) c.85757A>T (p.Asp28586Val) c.82799A>T (p.Asp27600Val) c.64415A>T (p.Asp21472Val) c.85910A>T (p.Asp28637Val) c.85907A>T (p.Asp28636Val) c.85340A>T (p.Asp28447Val) c.82682A>T (p.Asp27561Val) c.82601A>T (p.Asp27534Val) c.64364A>T (p.Asp21455Val) c.54218A>T (p.Asp18073Val) | |
| 2 | g.178551062T>C | CA1987626 | TTN,TTN-AS1 | c.83765A>G (p.Asp27922Gly) c.64850A>G (p.Asp21617Gly) c.64649A>G (p.Asp21550Gly) c.64274A>G (p.Asp21425Gly) c.91469A>G (p.Asp30490Gly) c.86546A>G (p.Asp28849Gly) n.447-20238T>C n.2043+8701T>C c.90566A>G (p.Asp30189Gly) c.64460A>G (p.Asp21487Gly) c.64319A>G (p.Asp21440Gly) c.90362A>G (p.Asp30121Gly) c.85760A>G (p.Asp28587Gly) c.85757A>G (p.Asp28586Gly) c.82799A>G (p.Asp27600Gly) c.64415A>G (p.Asp21472Gly) c.85910A>G (p.Asp28637Gly) c.85907A>G (p.Asp28636Gly) c.85340A>G (p.Asp28447Gly) c.82682A>G (p.Asp27561Gly) c.82601A>G (p.Asp27534Gly) c.64364A>G (p.Asp21455Gly) c.54218A>G (p.Asp18073Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178551062T>G | CA349501150 | TTN,TTN-AS1 | c.83765A>C (p.Asp27922Ala) c.64850A>C (p.Asp21617Ala) c.64649A>C (p.Asp21550Ala) c.64274A>C (p.Asp21425Ala) c.91469A>C (p.Asp30490Ala) c.86546A>C (p.Asp28849Ala) n.447-20238T>G n.2043+8701T>G c.90566A>C (p.Asp30189Ala) c.64460A>C (p.Asp21487Ala) c.64319A>C (p.Asp21440Ala) c.90362A>C (p.Asp30121Ala) c.85760A>C (p.Asp28587Ala) c.85757A>C (p.Asp28586Ala) c.82799A>C (p.Asp27600Ala) c.64415A>C (p.Asp21472Ala) c.85910A>C (p.Asp28637Ala) c.85907A>C (p.Asp28636Ala) c.85340A>C (p.Asp28447Ala) c.82682A>C (p.Asp27561Ala) c.82601A>C (p.Asp27534Ala) c.64364A>C (p.Asp21455Ala) c.54218A>C (p.Asp18073Ala) | |
| 2 | g.178551062T= | CA1310520702 | TTN,TTN-AS1 | c.83765A= (p.Asp27922=) c.64850A= (p.Asp21617=) c.64649A= (p.Asp21550=) c.64274A= (p.Asp21425=) c.91469A= (p.Asp30490=) c.86546A= (p.Asp28849=) n.447-20238T= n.2043+8701T= c.90566A= (p.Asp30189=) c.64460A= (p.Asp21487=) c.64319A= (p.Asp21440=) c.90362A= (p.Asp30121=) c.85760A= (p.Asp28587=) c.85757A= (p.Asp28586=) c.82799A= (p.Asp27600=) c.64415A= (p.Asp21472=) c.85910A= (p.Asp28637=) c.85907A= (p.Asp28636=) c.85340A= (p.Asp28447=) c.82682A= (p.Asp27561=) c.82601A= (p.Asp27534=) c.64364A= (p.Asp21455=) c.54218A= (p.Asp18073=) | |
| 2 | g.178551063C>A | CA1987628 | TTN,TTN-AS1 | c.83764G>T (p.Asp27922Tyr) c.64849G>T (p.Asp21617Tyr) c.64648G>T (p.Asp21550Tyr) c.64273G>T (p.Asp21425Tyr) c.91468G>T (p.Asp30490Tyr) c.86545G>T (p.Asp28849Tyr) n.447-20237C>A n.2043+8702C>A c.90565G>T (p.Asp30189Tyr) c.64459G>T (p.Asp21487Tyr) c.64318G>T (p.Asp21440Tyr) c.90361G>T (p.Asp30121Tyr) c.85759G>T (p.Asp28587Tyr) c.85756G>T (p.Asp28586Tyr) c.82798G>T (p.Asp27600Tyr) c.64414G>T (p.Asp21472Tyr) c.85909G>T (p.Asp28637Tyr) c.85906G>T (p.Asp28636Tyr) c.85339G>T (p.Asp28447Tyr) c.82681G>T (p.Asp27561Tyr) c.82600G>T (p.Asp27534Tyr) c.64363G>T (p.Asp21455Tyr) c.54217G>T (p.Asp18073Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178551063C= | CA1310520704 | TTN,TTN-AS1 | c.83764G= (p.Asp27922=) c.64849G= (p.Asp21617=) c.64648G= (p.Asp21550=) c.64273G= (p.Asp21425=) c.91468G= (p.Asp30490=) c.86545G= (p.Asp28849=) n.447-20237C= n.2043+8702C= c.90565G= (p.Asp30189=) c.64459G= (p.Asp21487=) c.64318G= (p.Asp21440=) c.90361G= (p.Asp30121=) c.85759G= (p.Asp28587=) c.85756G= (p.Asp28586=) c.82798G= (p.Asp27600=) c.64414G= (p.Asp21472=) c.85909G= (p.Asp28637=) c.85906G= (p.Asp28636=) c.85339G= (p.Asp28447=) c.82681G= (p.Asp27561=) c.82600G= (p.Asp27534=) c.64363G= (p.Asp21455=) c.54217G= (p.Asp18073=) | |
| 2 | g.178551063C>G | CA349501151 | TTN,TTN-AS1 | c.83764G>C (p.Asp27922His) c.64849G>C (p.Asp21617His) c.64648G>C (p.Asp21550His) c.64273G>C (p.Asp21425His) c.91468G>C (p.Asp30490His) c.86545G>C (p.Asp28849His) n.447-20237C>G n.2043+8702C>G c.90565G>C (p.Asp30189His) c.64459G>C (p.Asp21487His) c.64318G>C (p.Asp21440His) c.90361G>C (p.Asp30121His) c.85759G>C (p.Asp28587His) c.85756G>C (p.Asp28586His) c.82798G>C (p.Asp27600His) c.64414G>C (p.Asp21472His) c.85909G>C (p.Asp28637His) c.85906G>C (p.Asp28636His) c.85339G>C (p.Asp28447His) c.82681G>C (p.Asp27561His) c.82600G>C (p.Asp27534His) c.64363G>C (p.Asp21455His) c.54217G>C (p.Asp18073His) | |
| 2 | g.178551063C>T | CA1987627 | TTN,TTN-AS1 | c.83764G>A (p.Asp27922Asn) c.64849G>A (p.Asp21617Asn) c.64648G>A (p.Asp21550Asn) c.64273G>A (p.Asp21425Asn) c.91468G>A (p.Asp30490Asn) c.86545G>A (p.Asp28849Asn) n.447-20237C>T n.2043+8702C>T c.90565G>A (p.Asp30189Asn) c.64459G>A (p.Asp21487Asn) c.64318G>A (p.Asp21440Asn) c.90361G>A (p.Asp30121Asn) c.85759G>A (p.Asp28587Asn) c.85756G>A (p.Asp28586Asn) c.82798G>A (p.Asp27600Asn) c.64414G>A (p.Asp21472Asn) c.85909G>A (p.Asp28637Asn) c.85906G>A (p.Asp28636Asn) c.85339G>A (p.Asp28447Asn) c.82681G>A (p.Asp27561Asn) c.82600G>A (p.Asp27534Asn) c.64363G>A (p.Asp21455Asn) c.54217G>A (p.Asp18073Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178551064C>A | CA1987629 | TTN,TTN-AS1 | c.83763G>T (p.Gly27921=) c.64848G>T (p.Gly21616=) c.64647G>T (p.Gly21549=) c.64272G>T (p.Gly21424=) c.91467G>T (p.Gly30489=) c.86544G>T (p.Gly28848=) n.447-20236C>A n.2043+8703C>A c.90564G>T (p.Gly30188=) c.64458G>T (p.Gly21486=) c.64317G>T (p.Gly21439=) c.90360G>T (p.Gly30120=) c.85758G>T (p.Gly28586=) c.85755G>T (p.Gly28585=) c.82797G>T (p.Gly27599=) c.64413G>T (p.Gly21471=) c.85908G>T (p.Gly28636=) c.85905G>T (p.Gly28635=) c.85338G>T (p.Gly28446=) c.82680G>T (p.Gly27560=) c.82599G>T (p.Gly27533=) c.64362G>T (p.Gly21454=) c.54216G>T (p.Gly18072=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551064C= | CA1310520707 | TTN,TTN-AS1 | c.83763G= (p.Gly27921=) c.64848G= (p.Gly21616=) c.64647G= (p.Gly21549=) c.64272G= (p.Gly21424=) c.91467G= (p.Gly30489=) c.86544G= (p.Gly28848=) n.447-20236C= n.2043+8703C= c.90564G= (p.Gly30188=) c.64458G= (p.Gly21486=) c.64317G= (p.Gly21439=) c.90360G= (p.Gly30120=) c.85758G= (p.Gly28586=) c.85755G= (p.Gly28585=) c.82797G= (p.Gly27599=) c.64413G= (p.Gly21471=) c.85908G= (p.Gly28636=) c.85905G= (p.Gly28635=) c.85338G= (p.Gly28446=) c.82680G= (p.Gly27560=) c.82599G= (p.Gly27533=) c.64362G= (p.Gly21454=) c.54216G= (p.Gly18072=) | |
| 2 | g.178551064C>G | CA430103715 | TTN,TTN-AS1 | c.83763G>C (p.Gly27921=) c.64848G>C (p.Gly21616=) c.64647G>C (p.Gly21549=) c.64272G>C (p.Gly21424=) c.91467G>C (p.Gly30489=) c.86544G>C (p.Gly28848=) n.447-20236C>G n.2043+8703C>G c.90564G>C (p.Gly30188=) c.64458G>C (p.Gly21486=) c.64317G>C (p.Gly21439=) c.90360G>C (p.Gly30120=) c.85758G>C (p.Gly28586=) c.85755G>C (p.Gly28585=) c.82797G>C (p.Gly27599=) c.64413G>C (p.Gly21471=) c.85908G>C (p.Gly28636=) c.85905G>C (p.Gly28635=) c.85338G>C (p.Gly28446=) c.82680G>C (p.Gly27560=) c.82599G>C (p.Gly27533=) c.64362G>C (p.Gly21454=) c.54216G>C (p.Gly18072=) | |
| 2 | g.178551064C>T | CA430103716 | TTN,TTN-AS1 | c.83763G>A (p.Gly27921=) c.64848G>A (p.Gly21616=) c.64647G>A (p.Gly21549=) c.64272G>A (p.Gly21424=) c.91467G>A (p.Gly30489=) c.86544G>A (p.Gly28848=) n.447-20236C>T n.2043+8703C>T c.90564G>A (p.Gly30188=) c.64458G>A (p.Gly21486=) c.64317G>A (p.Gly21439=) c.90360G>A (p.Gly30120=) c.85758G>A (p.Gly28586=) c.85755G>A (p.Gly28585=) c.82797G>A (p.Gly27599=) c.64413G>A (p.Gly21471=) c.85908G>A (p.Gly28636=) c.85905G>A (p.Gly28635=) c.85338G>A (p.Gly28446=) c.82680G>A (p.Gly27560=) c.82599G>A (p.Gly27533=) c.64362G>A (p.Gly21454=) c.54216G>A (p.Gly18072=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178551065C>A | CA1987630 | TTN,TTN-AS1 | c.83762G>T (p.Gly27921Val) c.64847G>T (p.Gly21616Val) c.64646G>T (p.Gly21549Val) c.64271G>T (p.Gly21424Val) c.91466G>T (p.Gly30489Val) c.86543G>T (p.Gly28848Val) n.447-20235C>A n.2043+8704C>A c.90563G>T (p.Gly30188Val) c.64457G>T (p.Gly21486Val) c.64316G>T (p.Gly21439Val) c.90359G>T (p.Gly30120Val) c.85757G>T (p.Gly28586Val) c.85754G>T (p.Gly28585Val) c.82796G>T (p.Gly27599Val) c.64412G>T (p.Gly21471Val) c.85907G>T (p.Gly28636Val) c.85904G>T (p.Gly28635Val) c.85337G>T (p.Gly28446Val) c.82679G>T (p.Gly27560Val) c.82598G>T (p.Gly27533Val) c.64361G>T (p.Gly21454Val) c.54215G>T (p.Gly18072Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178551065C= | CA1310520708 | TTN,TTN-AS1 | c.83762G= (p.Gly27921=) c.64847G= (p.Gly21616=) c.64646G= (p.Gly21549=) c.64271G= (p.Gly21424=) c.91466G= (p.Gly30489=) c.86543G= (p.Gly28848=) n.447-20235C= n.2043+8704C= c.90563G= (p.Gly30188=) c.64457G= (p.Gly21486=) c.64316G= (p.Gly21439=) c.90359G= (p.Gly30120=) c.85757G= (p.Gly28586=) c.85754G= (p.Gly28585=) c.82796G= (p.Gly27599=) c.64412G= (p.Gly21471=) c.85907G= (p.Gly28636=) c.85904G= (p.Gly28635=) c.85337G= (p.Gly28446=) c.82679G= (p.Gly27560=) c.82598G= (p.Gly27533=) c.64361G= (p.Gly21454=) c.54215G= (p.Gly18072=) | |
| 2 | g.178551065C>G | CA349501152 | TTN,TTN-AS1 | c.83762G>C (p.Gly27921Ala) c.64847G>C (p.Gly21616Ala) c.64646G>C (p.Gly21549Ala) c.64271G>C (p.Gly21424Ala) c.91466G>C (p.Gly30489Ala) c.86543G>C (p.Gly28848Ala) n.447-20235C>G n.2043+8704C>G c.90563G>C (p.Gly30188Ala) c.64457G>C (p.Gly21486Ala) c.64316G>C (p.Gly21439Ala) c.90359G>C (p.Gly30120Ala) c.85757G>C (p.Gly28586Ala) c.85754G>C (p.Gly28585Ala) c.82796G>C (p.Gly27599Ala) c.64412G>C (p.Gly21471Ala) c.85907G>C (p.Gly28636Ala) c.85904G>C (p.Gly28635Ala) c.85337G>C (p.Gly28446Ala) c.82679G>C (p.Gly27560Ala) c.82598G>C (p.Gly27533Ala) c.64361G>C (p.Gly21454Ala) c.54215G>C (p.Gly18072Ala) | |
| 2 | g.178551065C>T | CA349501168 | TTN,TTN-AS1 | c.83762G>A (p.Gly27921Glu) c.64847G>A (p.Gly21616Glu) c.64646G>A (p.Gly21549Glu) c.64271G>A (p.Gly21424Glu) c.91466G>A (p.Gly30489Glu) c.86543G>A (p.Gly28848Glu) n.447-20235C>T n.2043+8704C>T c.90563G>A (p.Gly30188Glu) c.64457G>A (p.Gly21486Glu) c.64316G>A (p.Gly21439Glu) c.90359G>A (p.Gly30120Glu) c.85757G>A (p.Gly28586Glu) c.85754G>A (p.Gly28585Glu) c.82796G>A (p.Gly27599Glu) c.64412G>A (p.Gly21471Glu) c.85907G>A (p.Gly28636Glu) c.85904G>A (p.Gly28635Glu) c.85337G>A (p.Gly28446Glu) c.82679G>A (p.Gly27560Glu) c.82598G>A (p.Gly27533Glu) c.64361G>A (p.Gly21454Glu) c.54215G>A (p.Gly18072Glu) | |
| 2 | g.178551066C>A | CA349501178 | TTN,TTN-AS1 | c.83761G>T (p.Gly27921Trp) c.64846G>T (p.Gly21616Trp) c.64645G>T (p.Gly21549Trp) c.64270G>T (p.Gly21424Trp) c.91465G>T (p.Gly30489Trp) c.86542G>T (p.Gly28848Trp) n.447-20234C>A n.2043+8705C>A c.90562G>T (p.Gly30188Trp) c.64456G>T (p.Gly21486Trp) c.64315G>T (p.Gly21439Trp) c.90358G>T (p.Gly30120Trp) c.85756G>T (p.Gly28586Trp) c.85753G>T (p.Gly28585Trp) c.82795G>T (p.Gly27599Trp) c.64411G>T (p.Gly21471Trp) c.85906G>T (p.Gly28636Trp) c.85903G>T (p.Gly28635Trp) c.85336G>T (p.Gly28446Trp) c.82678G>T (p.Gly27560Trp) c.82597G>T (p.Gly27533Trp) c.64360G>T (p.Gly21454Trp) c.54214G>T (p.Gly18072Trp) | |
| 2 | g.178551066C>G | CA349501181 | TTN,TTN-AS1 | c.83761G>C (p.Gly27921Arg) c.64846G>C (p.Gly21616Arg) c.64645G>C (p.Gly21549Arg) c.64270G>C (p.Gly21424Arg) c.91465G>C (p.Gly30489Arg) c.86542G>C (p.Gly28848Arg) n.447-20234C>G n.2043+8705C>G c.90562G>C (p.Gly30188Arg) c.64456G>C (p.Gly21486Arg) c.64315G>C (p.Gly21439Arg) c.90358G>C (p.Gly30120Arg) c.85756G>C (p.Gly28586Arg) c.85753G>C (p.Gly28585Arg) c.82795G>C (p.Gly27599Arg) c.64411G>C (p.Gly21471Arg) c.85906G>C (p.Gly28636Arg) c.85903G>C (p.Gly28635Arg) c.85336G>C (p.Gly28446Arg) c.82678G>C (p.Gly27560Arg) c.82597G>C (p.Gly27533Arg) c.64360G>C (p.Gly21454Arg) c.54214G>C (p.Gly18072Arg) | |
| 2 | g.178551066C>T | CA349501182 | TTN,TTN-AS1 | c.83761G>A (p.Gly27921Arg) c.64846G>A (p.Gly21616Arg) c.64645G>A (p.Gly21549Arg) c.64270G>A (p.Gly21424Arg) c.91465G>A (p.Gly30489Arg) c.86542G>A (p.Gly28848Arg) n.447-20234C>T n.2043+8705C>T c.90562G>A (p.Gly30188Arg) c.64456G>A (p.Gly21486Arg) c.64315G>A (p.Gly21439Arg) c.90358G>A (p.Gly30120Arg) c.85756G>A (p.Gly28586Arg) c.85753G>A (p.Gly28585Arg) c.82795G>A (p.Gly27599Arg) c.64411G>A (p.Gly21471Arg) c.85906G>A (p.Gly28636Arg) c.85903G>A (p.Gly28635Arg) c.85336G>A (p.Gly28446Arg) c.82678G>A (p.Gly27560Arg) c.82597G>A (p.Gly27533Arg) c.64360G>A (p.Gly21454Arg) c.54214G>A (p.Gly18072Arg) | |
| 2 | g.178551067A= | CA1310520711 | TTN,TTN-AS1 | c.83760T= (p.Pro27920=) c.64845T= (p.Pro21615=) c.64644T= (p.Pro21548=) c.64269T= (p.Pro21423=) c.91464T= (p.Pro30488=) c.86541T= (p.Pro28847=) n.447-20233A= n.2043+8706A= c.90561T= (p.Pro30187=) c.64455T= (p.Pro21485=) c.64314T= (p.Pro21438=) c.90357T= (p.Pro30119=) c.85755T= (p.Pro28585=) c.85752T= (p.Pro28584=) c.82794T= (p.Pro27598=) c.64410T= (p.Pro21470=) c.85905T= (p.Pro28635=) c.85902T= (p.Pro28634=) c.85335T= (p.Pro28445=) c.82677T= (p.Pro27559=) c.82596T= (p.Pro27532=) c.64359T= (p.Pro21453=) c.54213T= (p.Pro18071=) | |
| 2 | g.178551067A>C | CA1987631 | TTN,TTN-AS1 | c.83760T>G (p.Pro27920=) c.64845T>G (p.Pro21615=) c.64644T>G (p.Pro21548=) c.64269T>G (p.Pro21423=) c.91464T>G (p.Pro30488=) c.86541T>G (p.Pro28847=) n.447-20233A>C n.2043+8706A>C c.90561T>G (p.Pro30187=) c.64455T>G (p.Pro21485=) c.64314T>G (p.Pro21438=) c.90357T>G (p.Pro30119=) c.85755T>G (p.Pro28585=) c.85752T>G (p.Pro28584=) c.82794T>G (p.Pro27598=) c.64410T>G (p.Pro21470=) c.85905T>G (p.Pro28635=) c.85902T>G (p.Pro28634=) c.85335T>G (p.Pro28445=) c.82677T>G (p.Pro27559=) c.82596T>G (p.Pro27532=) c.64359T>G (p.Pro21453=) c.54213T>G (p.Pro18071=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178551067A>G | CA430103720 | TTN,TTN-AS1 | c.83760T>C (p.Pro27920=) c.64845T>C (p.Pro21615=) c.64644T>C (p.Pro21548=) c.64269T>C (p.Pro21423=) c.91464T>C (p.Pro30488=) c.86541T>C (p.Pro28847=) n.447-20233A>G n.2043+8706A>G c.90561T>C (p.Pro30187=) c.64455T>C (p.Pro21485=) c.64314T>C (p.Pro21438=) c.90357T>C (p.Pro30119=) c.85755T>C (p.Pro28585=) c.85752T>C (p.Pro28584=) c.82794T>C (p.Pro27598=) c.64410T>C (p.Pro21470=) c.85905T>C (p.Pro28635=) c.85902T>C (p.Pro28634=) c.85335T>C (p.Pro28445=) c.82677T>C (p.Pro27559=) c.82596T>C (p.Pro27532=) c.64359T>C (p.Pro21453=) c.54213T>C (p.Pro18071=) | ClinVar gnomAD v4 |
| 2 | g.178551067A>T | CA430103721 | TTN,TTN-AS1 | c.83760T>A (p.Pro27920=) c.64845T>A (p.Pro21615=) c.64644T>A (p.Pro21548=) c.64269T>A (p.Pro21423=) c.91464T>A (p.Pro30488=) c.86541T>A (p.Pro28847=) n.447-20233A>T n.2043+8706A>T c.90561T>A (p.Pro30187=) c.64455T>A (p.Pro21485=) c.64314T>A (p.Pro21438=) c.90357T>A (p.Pro30119=) c.85755T>A (p.Pro28585=) c.85752T>A (p.Pro28584=) c.82794T>A (p.Pro27598=) c.64410T>A (p.Pro21470=) c.85905T>A (p.Pro28635=) c.85902T>A (p.Pro28634=) c.85335T>A (p.Pro28445=) c.82677T>A (p.Pro27559=) c.82596T>A (p.Pro27532=) c.64359T>A (p.Pro21453=) c.54213T>A (p.Pro18071=) |