| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178578078C>A | CA088467 | TTN,TTN-AS1 | c.60733G>T (p.Glu20245Ter) c.41818G>T (p.Glu13940Ter) c.41617G>T (p.Glu13873Ter) c.41242G>T (p.Glu13748Ter) c.68437G>T (p.Glu22813Ter) c.63514G>T (p.Glu21172Ter) n.596+6629C>A n.2044-4494C>A c.67534G>T (p.Glu22512Ter) c.41428G>T (p.Glu13810Ter) c.41287G>T (p.Glu13763Ter) c.67330G>T (p.Glu22444Ter) c.62728G>T (p.Glu20910Ter) c.62725G>T (p.Glu20909Ter) c.59767G>T (p.Glu19923Ter) c.41383G>T (p.Glu13795Ter) c.62878G>T (p.Glu20960Ter) c.62875G>T (p.Glu20959Ter) c.62308G>T (p.Glu20770Ter) c.59650G>T (p.Glu19884Ter) c.59569G>T (p.Glu19857Ter) c.41332G>T (p.Glu13778Ter) c.31186G>T (p.Glu10396Ter) | ClinVar dbSNP |
| 2 | g.178578078C= | CA1310534392 | TTN,TTN-AS1 | c.60733G= (p.Glu20245=) c.41818G= (p.Glu13940=) c.41617G= (p.Glu13873=) c.41242G= (p.Glu13748=) c.68437G= (p.Glu22813=) c.63514G= (p.Glu21172=) n.596+6629C= n.2044-4494C= c.67534G= (p.Glu22512=) c.41428G= (p.Glu13810=) c.41287G= (p.Glu13763=) c.67330G= (p.Glu22444=) c.62728G= (p.Glu20910=) c.62725G= (p.Glu20909=) c.59767G= (p.Glu19923=) c.41383G= (p.Glu13795=) c.62878G= (p.Glu20960=) c.62875G= (p.Glu20959=) c.62308G= (p.Glu20770=) c.59650G= (p.Glu19884=) c.59569G= (p.Glu19857=) c.41332G= (p.Glu13778=) c.31186G= (p.Glu10396=) | |
| 2 | g.178578078C>G | CA349672521 | TTN,TTN-AS1 | c.60733G>C (p.Glu20245Gln) c.41818G>C (p.Glu13940Gln) c.41617G>C (p.Glu13873Gln) c.41242G>C (p.Glu13748Gln) c.68437G>C (p.Glu22813Gln) c.63514G>C (p.Glu21172Gln) n.596+6629C>G n.2044-4494C>G c.67534G>C (p.Glu22512Gln) c.41428G>C (p.Glu13810Gln) c.41287G>C (p.Glu13763Gln) c.67330G>C (p.Glu22444Gln) c.62728G>C (p.Glu20910Gln) c.62725G>C (p.Glu20909Gln) c.59767G>C (p.Glu19923Gln) c.41383G>C (p.Glu13795Gln) c.62878G>C (p.Glu20960Gln) c.62875G>C (p.Glu20959Gln) c.62308G>C (p.Glu20770Gln) c.59650G>C (p.Glu19884Gln) c.59569G>C (p.Glu19857Gln) c.41332G>C (p.Glu13778Gln) c.31186G>C (p.Glu10396Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178578078C>T | CA181741 | TTN,TTN-AS1 | c.60733G>A (p.Glu20245Lys) c.41818G>A (p.Glu13940Lys) c.41617G>A (p.Glu13873Lys) c.41242G>A (p.Glu13748Lys) c.68437G>A (p.Glu22813Lys) c.63514G>A (p.Glu21172Lys) n.596+6629C>T n.2044-4494C>T c.67534G>A (p.Glu22512Lys) c.41428G>A (p.Glu13810Lys) c.41287G>A (p.Glu13763Lys) c.67330G>A (p.Glu22444Lys) c.62728G>A (p.Glu20910Lys) c.62725G>A (p.Glu20909Lys) c.59767G>A (p.Glu19923Lys) c.41383G>A (p.Glu13795Lys) c.62878G>A (p.Glu20960Lys) c.62875G>A (p.Glu20959Lys) c.62308G>A (p.Glu20770Lys) c.59650G>A (p.Glu19884Lys) c.59569G>A (p.Glu19857Lys) c.41332G>A (p.Glu13778Lys) c.31186G>A (p.Glu10396Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178578079A>C | CA430259630 | TTN,TTN-AS1 | c.60732T>G (p.Leu20244=) c.41817T>G (p.Leu13939=) c.41616T>G (p.Leu13872=) c.41241T>G (p.Leu13747=) c.68436T>G (p.Leu22812=) c.63513T>G (p.Leu21171=) n.596+6630A>C n.2044-4493A>C c.67533T>G (p.Leu22511=) c.41427T>G (p.Leu13809=) c.41286T>G (p.Leu13762=) c.67329T>G (p.Leu22443=) c.62727T>G (p.Leu20909=) c.62724T>G (p.Leu20908=) c.59766T>G (p.Leu19922=) c.41382T>G (p.Leu13794=) c.62877T>G (p.Leu20959=) c.62874T>G (p.Leu20958=) c.62307T>G (p.Leu20769=) c.59649T>G (p.Leu19883=) c.59568T>G (p.Leu19856=) c.41331T>G (p.Leu13777=) c.31185T>G (p.Leu10395=) | |
| 2 | g.178578079A>G | CA430259634 | TTN,TTN-AS1 | c.60732T>C (p.Leu20244=) c.41817T>C (p.Leu13939=) c.41616T>C (p.Leu13872=) c.41241T>C (p.Leu13747=) c.68436T>C (p.Leu22812=) c.63513T>C (p.Leu21171=) n.596+6630A>G n.2044-4493A>G c.67533T>C (p.Leu22511=) c.41427T>C (p.Leu13809=) c.41286T>C (p.Leu13762=) c.67329T>C (p.Leu22443=) c.62727T>C (p.Leu20909=) c.62724T>C (p.Leu20908=) c.59766T>C (p.Leu19922=) c.41382T>C (p.Leu13794=) c.62877T>C (p.Leu20959=) c.62874T>C (p.Leu20958=) c.62307T>C (p.Leu20769=) c.59649T>C (p.Leu19883=) c.59568T>C (p.Leu19856=) c.41331T>C (p.Leu13777=) c.31185T>C (p.Leu10395=) | |
| 2 | g.178578079A>T | CA430259632 | TTN,TTN-AS1 | c.60732T>A (p.Leu20244=) c.41817T>A (p.Leu13939=) c.41616T>A (p.Leu13872=) c.41241T>A (p.Leu13747=) c.68436T>A (p.Leu22812=) c.63513T>A (p.Leu21171=) n.596+6630A>T n.2044-4493A>T c.67533T>A (p.Leu22511=) c.41427T>A (p.Leu13809=) c.41286T>A (p.Leu13762=) c.67329T>A (p.Leu22443=) c.62727T>A (p.Leu20909=) c.62724T>A (p.Leu20908=) c.59766T>A (p.Leu19922=) c.41382T>A (p.Leu13794=) c.62877T>A (p.Leu20959=) c.62874T>A (p.Leu20958=) c.62307T>A (p.Leu20769=) c.59649T>A (p.Leu19883=) c.59568T>A (p.Leu19856=) c.41331T>A (p.Leu13777=) c.31185T>A (p.Leu10395=) | |
| 2 | g.178578080A>C | CA349672526 | TTN,TTN-AS1 | c.60731T>G (p.Leu20244Arg) c.41816T>G (p.Leu13939Arg) c.41615T>G (p.Leu13872Arg) c.41240T>G (p.Leu13747Arg) c.68435T>G (p.Leu22812Arg) c.63512T>G (p.Leu21171Arg) n.596+6631A>C n.2044-4492A>C c.67532T>G (p.Leu22511Arg) c.41426T>G (p.Leu13809Arg) c.41285T>G (p.Leu13762Arg) c.67328T>G (p.Leu22443Arg) c.62726T>G (p.Leu20909Arg) c.62723T>G (p.Leu20908Arg) c.59765T>G (p.Leu19922Arg) c.41381T>G (p.Leu13794Arg) c.62876T>G (p.Leu20959Arg) c.62873T>G (p.Leu20958Arg) c.62306T>G (p.Leu20769Arg) c.59648T>G (p.Leu19883Arg) c.59567T>G (p.Leu19856Arg) c.41330T>G (p.Leu13777Arg) c.31184T>G (p.Leu10395Arg) | |
| 2 | g.178578080A>G | CA349672528 | TTN,TTN-AS1 | c.60731T>C (p.Leu20244Pro) c.41816T>C (p.Leu13939Pro) c.41615T>C (p.Leu13872Pro) c.41240T>C (p.Leu13747Pro) c.68435T>C (p.Leu22812Pro) c.63512T>C (p.Leu21171Pro) n.596+6631A>G n.2044-4492A>G c.67532T>C (p.Leu22511Pro) c.41426T>C (p.Leu13809Pro) c.41285T>C (p.Leu13762Pro) c.67328T>C (p.Leu22443Pro) c.62726T>C (p.Leu20909Pro) c.62723T>C (p.Leu20908Pro) c.59765T>C (p.Leu19922Pro) c.41381T>C (p.Leu13794Pro) c.62876T>C (p.Leu20959Pro) c.62873T>C (p.Leu20958Pro) c.62306T>C (p.Leu20769Pro) c.59648T>C (p.Leu19883Pro) c.59567T>C (p.Leu19856Pro) c.41330T>C (p.Leu13777Pro) c.31184T>C (p.Leu10395Pro) | |
| 2 | g.178578080A>T | CA349672530 | TTN,TTN-AS1 | c.60731T>A (p.Leu20244His) c.41816T>A (p.Leu13939His) c.41615T>A (p.Leu13872His) c.41240T>A (p.Leu13747His) c.68435T>A (p.Leu22812His) c.63512T>A (p.Leu21171His) n.596+6631A>T n.2044-4492A>T c.67532T>A (p.Leu22511His) c.41426T>A (p.Leu13809His) c.41285T>A (p.Leu13762His) c.67328T>A (p.Leu22443His) c.62726T>A (p.Leu20909His) c.62723T>A (p.Leu20908His) c.59765T>A (p.Leu19922His) c.41381T>A (p.Leu13794His) c.62876T>A (p.Leu20959His) c.62873T>A (p.Leu20958His) c.62306T>A (p.Leu20769His) c.59648T>A (p.Leu19883His) c.59567T>A (p.Leu19856His) c.41330T>A (p.Leu13777His) c.31184T>A (p.Leu10395His) | |
| 2 | g.178578081G>A | CA349672531 | TTN,TTN-AS1 | c.60730C>T (p.Leu20244Phe) c.41815C>T (p.Leu13939Phe) c.41614C>T (p.Leu13872Phe) c.41239C>T (p.Leu13747Phe) c.68434C>T (p.Leu22812Phe) c.63511C>T (p.Leu21171Phe) n.596+6632G>A n.2044-4491G>A c.67531C>T (p.Leu22511Phe) c.41425C>T (p.Leu13809Phe) c.41284C>T (p.Leu13762Phe) c.67327C>T (p.Leu22443Phe) c.62725C>T (p.Leu20909Phe) c.62722C>T (p.Leu20908Phe) c.59764C>T (p.Leu19922Phe) c.41380C>T (p.Leu13794Phe) c.62875C>T (p.Leu20959Phe) c.62872C>T (p.Leu20958Phe) c.62305C>T (p.Leu20769Phe) c.59647C>T (p.Leu19883Phe) c.59566C>T (p.Leu19856Phe) c.41329C>T (p.Leu13777Phe) c.31183C>T (p.Leu10395Phe) | |
| 2 | g.178578081G>C | CA349672532 | TTN,TTN-AS1 | c.60730C>G (p.Leu20244Val) c.41815C>G (p.Leu13939Val) c.41614C>G (p.Leu13872Val) c.41239C>G (p.Leu13747Val) c.68434C>G (p.Leu22812Val) c.63511C>G (p.Leu21171Val) n.596+6632G>C n.2044-4491G>C c.67531C>G (p.Leu22511Val) c.41425C>G (p.Leu13809Val) c.41284C>G (p.Leu13762Val) c.67327C>G (p.Leu22443Val) c.62725C>G (p.Leu20909Val) c.62722C>G (p.Leu20908Val) c.59764C>G (p.Leu19922Val) c.41380C>G (p.Leu13794Val) c.62875C>G (p.Leu20959Val) c.62872C>G (p.Leu20958Val) c.62305C>G (p.Leu20769Val) c.59647C>G (p.Leu19883Val) c.59566C>G (p.Leu19856Val) c.41329C>G (p.Leu13777Val) c.31183C>G (p.Leu10395Val) | |
| 2 | g.178578081G>T | CA349672533 | TTN,TTN-AS1 | c.60730C>A (p.Leu20244Ile) c.41815C>A (p.Leu13939Ile) c.41614C>A (p.Leu13872Ile) c.41239C>A (p.Leu13747Ile) c.68434C>A (p.Leu22812Ile) c.63511C>A (p.Leu21171Ile) n.596+6632G>T n.2044-4491G>T c.67531C>A (p.Leu22511Ile) c.41425C>A (p.Leu13809Ile) c.41284C>A (p.Leu13762Ile) c.67327C>A (p.Leu22443Ile) c.62725C>A (p.Leu20909Ile) c.62722C>A (p.Leu20908Ile) c.59764C>A (p.Leu19922Ile) c.41380C>A (p.Leu13794Ile) c.62875C>A (p.Leu20959Ile) c.62872C>A (p.Leu20958Ile) c.62305C>A (p.Leu20769Ile) c.59647C>A (p.Leu19883Ile) c.59566C>A (p.Leu19856Ile) c.41329C>A (p.Leu13777Ile) c.31183C>A (p.Leu10395Ile) | |
| 2 | g.178578082A>C | CA430259645 | TTN,TTN-AS1 | c.60729T>G (p.Gly20243=) c.41814T>G (p.Gly13938=) c.41613T>G (p.Gly13871=) c.41238T>G (p.Gly13746=) c.68433T>G (p.Gly22811=) c.63510T>G (p.Gly21170=) n.596+6633A>C n.2044-4490A>C c.67530T>G (p.Gly22510=) c.41424T>G (p.Gly13808=) c.41283T>G (p.Gly13761=) c.67326T>G (p.Gly22442=) c.62724T>G (p.Gly20908=) c.62721T>G (p.Gly20907=) c.59763T>G (p.Gly19921=) c.41379T>G (p.Gly13793=) c.62874T>G (p.Gly20958=) c.62871T>G (p.Gly20957=) c.62304T>G (p.Gly20768=) c.59646T>G (p.Gly19882=) c.59565T>G (p.Gly19855=) c.41328T>G (p.Gly13776=) c.31182T>G (p.Gly10394=) | |
| 2 | g.178578082A>G | CA430259648 | TTN,TTN-AS1 | c.60729T>C (p.Gly20243=) c.41814T>C (p.Gly13938=) c.41613T>C (p.Gly13871=) c.41238T>C (p.Gly13746=) c.68433T>C (p.Gly22811=) c.63510T>C (p.Gly21170=) n.596+6633A>G n.2044-4490A>G c.67530T>C (p.Gly22510=) c.41424T>C (p.Gly13808=) c.41283T>C (p.Gly13761=) c.67326T>C (p.Gly22442=) c.62724T>C (p.Gly20908=) c.62721T>C (p.Gly20907=) c.59763T>C (p.Gly19921=) c.41379T>C (p.Gly13793=) c.62874T>C (p.Gly20958=) c.62871T>C (p.Gly20957=) c.62304T>C (p.Gly20768=) c.59646T>C (p.Gly19882=) c.59565T>C (p.Gly19855=) c.41328T>C (p.Gly13776=) c.31182T>C (p.Gly10394=) | |
| 2 | g.178578082A>T | CA430259646 | TTN,TTN-AS1 | c.60729T>A (p.Gly20243=) c.41814T>A (p.Gly13938=) c.41613T>A (p.Gly13871=) c.41238T>A (p.Gly13746=) c.68433T>A (p.Gly22811=) c.63510T>A (p.Gly21170=) n.596+6633A>T n.2044-4490A>T c.67530T>A (p.Gly22510=) c.41424T>A (p.Gly13808=) c.41283T>A (p.Gly13761=) c.67326T>A (p.Gly22442=) c.62724T>A (p.Gly20908=) c.62721T>A (p.Gly20907=) c.59763T>A (p.Gly19921=) c.41379T>A (p.Gly13793=) c.62874T>A (p.Gly20958=) c.62871T>A (p.Gly20957=) c.62304T>A (p.Gly20768=) c.59646T>A (p.Gly19882=) c.59565T>A (p.Gly19855=) c.41328T>A (p.Gly13776=) c.31182T>A (p.Gly10394=) | |
| 2 | g.178578083C>A | CA349672534 | TTN,TTN-AS1 | c.60728G>T (p.Gly20243Val) c.41813G>T (p.Gly13938Val) c.41612G>T (p.Gly13871Val) c.41237G>T (p.Gly13746Val) c.68432G>T (p.Gly22811Val) c.63509G>T (p.Gly21170Val) n.596+6634C>A n.2044-4489C>A c.67529G>T (p.Gly22510Val) c.41423G>T (p.Gly13808Val) c.41282G>T (p.Gly13761Val) c.67325G>T (p.Gly22442Val) c.62723G>T (p.Gly20908Val) c.62720G>T (p.Gly20907Val) c.59762G>T (p.Gly19921Val) c.41378G>T (p.Gly13793Val) c.62873G>T (p.Gly20958Val) c.62870G>T (p.Gly20957Val) c.62303G>T (p.Gly20768Val) c.59645G>T (p.Gly19882Val) c.59564G>T (p.Gly19855Val) c.41327G>T (p.Gly13776Val) c.31181G>T (p.Gly10394Val) | ClinVar dbSNP |
| 2 | g.178578083C= | CA1310534396 | TTN,TTN-AS1 | c.60728G= (p.Gly20243=) c.41813G= (p.Gly13938=) c.41612G= (p.Gly13871=) c.41237G= (p.Gly13746=) c.68432G= (p.Gly22811=) c.63509G= (p.Gly21170=) n.596+6634C= n.2044-4489C= c.67529G= (p.Gly22510=) c.41423G= (p.Gly13808=) c.41282G= (p.Gly13761=) c.67325G= (p.Gly22442=) c.62723G= (p.Gly20908=) c.62720G= (p.Gly20907=) c.59762G= (p.Gly19921=) c.41378G= (p.Gly13793=) c.62873G= (p.Gly20958=) c.62870G= (p.Gly20957=) c.62303G= (p.Gly20768=) c.59645G= (p.Gly19882=) c.59564G= (p.Gly19855=) c.41327G= (p.Gly13776=) c.31181G= (p.Gly10394=) | |
| 2 | g.178578083C>G | CA349672535 | TTN,TTN-AS1 | c.60728G>C (p.Gly20243Ala) c.41813G>C (p.Gly13938Ala) c.41612G>C (p.Gly13871Ala) c.41237G>C (p.Gly13746Ala) c.68432G>C (p.Gly22811Ala) c.63509G>C (p.Gly21170Ala) n.596+6634C>G n.2044-4489C>G c.67529G>C (p.Gly22510Ala) c.41423G>C (p.Gly13808Ala) c.41282G>C (p.Gly13761Ala) c.67325G>C (p.Gly22442Ala) c.62723G>C (p.Gly20908Ala) c.62720G>C (p.Gly20907Ala) c.59762G>C (p.Gly19921Ala) c.41378G>C (p.Gly13793Ala) c.62873G>C (p.Gly20958Ala) c.62870G>C (p.Gly20957Ala) c.62303G>C (p.Gly20768Ala) c.59645G>C (p.Gly19882Ala) c.59564G>C (p.Gly19855Ala) c.41327G>C (p.Gly13776Ala) c.31181G>C (p.Gly10394Ala) | |
| 2 | g.178578083C>T | CA1991108 | TTN,TTN-AS1 | c.60728G>A (p.Gly20243Asp) c.41813G>A (p.Gly13938Asp) c.41612G>A (p.Gly13871Asp) c.41237G>A (p.Gly13746Asp) c.68432G>A (p.Gly22811Asp) c.63509G>A (p.Gly21170Asp) n.596+6634C>T n.2044-4489C>T c.67529G>A (p.Gly22510Asp) c.41423G>A (p.Gly13808Asp) c.41282G>A (p.Gly13761Asp) c.67325G>A (p.Gly22442Asp) c.62723G>A (p.Gly20908Asp) c.62720G>A (p.Gly20907Asp) c.59762G>A (p.Gly19921Asp) c.41378G>A (p.Gly13793Asp) c.62873G>A (p.Gly20958Asp) c.62870G>A (p.Gly20957Asp) c.62303G>A (p.Gly20768Asp) c.59645G>A (p.Gly19882Asp) c.59564G>A (p.Gly19855Asp) c.41327G>A (p.Gly13776Asp) c.31181G>A (p.Gly10394Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178578084C>A | CA349672540 | TTN,TTN-AS1 | c.60727G>T (p.Gly20243Cys) c.41812G>T (p.Gly13938Cys) c.41611G>T (p.Gly13871Cys) c.41236G>T (p.Gly13746Cys) c.68431G>T (p.Gly22811Cys) c.63508G>T (p.Gly21170Cys) n.596+6635C>A n.2044-4488C>A c.67528G>T (p.Gly22510Cys) c.41422G>T (p.Gly13808Cys) c.41281G>T (p.Gly13761Cys) c.67324G>T (p.Gly22442Cys) c.62722G>T (p.Gly20908Cys) c.62719G>T (p.Gly20907Cys) c.59761G>T (p.Gly19921Cys) c.41377G>T (p.Gly13793Cys) c.62872G>T (p.Gly20958Cys) c.62869G>T (p.Gly20957Cys) c.62302G>T (p.Gly20768Cys) c.59644G>T (p.Gly19882Cys) c.59563G>T (p.Gly19855Cys) c.41326G>T (p.Gly13776Cys) c.31180G>T (p.Gly10394Cys) | |
| 2 | g.178578084C>G | CA349672537 | TTN,TTN-AS1 | c.60727G>C (p.Gly20243Arg) c.41812G>C (p.Gly13938Arg) c.41611G>C (p.Gly13871Arg) c.41236G>C (p.Gly13746Arg) c.68431G>C (p.Gly22811Arg) c.63508G>C (p.Gly21170Arg) n.596+6635C>G n.2044-4488C>G c.67528G>C (p.Gly22510Arg) c.41422G>C (p.Gly13808Arg) c.41281G>C (p.Gly13761Arg) c.67324G>C (p.Gly22442Arg) c.62722G>C (p.Gly20908Arg) c.62719G>C (p.Gly20907Arg) c.59761G>C (p.Gly19921Arg) c.41377G>C (p.Gly13793Arg) c.62872G>C (p.Gly20958Arg) c.62869G>C (p.Gly20957Arg) c.62302G>C (p.Gly20768Arg) c.59644G>C (p.Gly19882Arg) c.59563G>C (p.Gly19855Arg) c.41326G>C (p.Gly13776Arg) c.31180G>C (p.Gly10394Arg) | |
| 2 | g.178578084C>T | CA349672539 | TTN,TTN-AS1 | c.60727G>A (p.Gly20243Ser) c.41812G>A (p.Gly13938Ser) c.41611G>A (p.Gly13871Ser) c.41236G>A (p.Gly13746Ser) c.68431G>A (p.Gly22811Ser) c.63508G>A (p.Gly21170Ser) n.596+6635C>T n.2044-4488C>T c.67528G>A (p.Gly22510Ser) c.41422G>A (p.Gly13808Ser) c.41281G>A (p.Gly13761Ser) c.67324G>A (p.Gly22442Ser) c.62722G>A (p.Gly20908Ser) c.62719G>A (p.Gly20907Ser) c.59761G>A (p.Gly19921Ser) c.41377G>A (p.Gly13793Ser) c.62872G>A (p.Gly20958Ser) c.62869G>A (p.Gly20957Ser) c.62302G>A (p.Gly20768Ser) c.59644G>A (p.Gly19882Ser) c.59563G>A (p.Gly19855Ser) c.41326G>A (p.Gly13776Ser) c.31180G>A (p.Gly10394Ser) | gnomAD v4 |
| 2 | g.178578085T>A | CA349672543 | TTN,TTN-AS1 | c.60726A>T (p.Glu20242Asp) c.41811A>T (p.Glu13937Asp) c.41610A>T (p.Glu13870Asp) c.41235A>T (p.Glu13745Asp) c.68430A>T (p.Glu22810Asp) c.63507A>T (p.Glu21169Asp) n.596+6636T>A n.2044-4487T>A c.67527A>T (p.Glu22509Asp) c.41421A>T (p.Glu13807Asp) c.41280A>T (p.Glu13760Asp) c.67323A>T (p.Glu22441Asp) c.62721A>T (p.Glu20907Asp) c.62718A>T (p.Glu20906Asp) c.59760A>T (p.Glu19920Asp) c.41376A>T (p.Glu13792Asp) c.62871A>T (p.Glu20957Asp) c.62868A>T (p.Glu20956Asp) c.62301A>T (p.Glu20767Asp) c.59643A>T (p.Glu19881Asp) c.59562A>T (p.Glu19854Asp) c.41325A>T (p.Glu13775Asp) c.31179A>T (p.Glu10393Asp) | |
| 2 | g.178578085T>C | CA430259655 | TTN,TTN-AS1 | c.60726A>G (p.Glu20242=) c.41811A>G (p.Glu13937=) c.41610A>G (p.Glu13870=) c.41235A>G (p.Glu13745=) c.68430A>G (p.Glu22810=) c.63507A>G (p.Glu21169=) n.596+6636T>C n.2044-4487T>C c.67527A>G (p.Glu22509=) c.41421A>G (p.Glu13807=) c.41280A>G (p.Glu13760=) c.67323A>G (p.Glu22441=) c.62721A>G (p.Glu20907=) c.62718A>G (p.Glu20906=) c.59760A>G (p.Glu19920=) c.41376A>G (p.Glu13792=) c.62871A>G (p.Glu20957=) c.62868A>G (p.Glu20956=) c.62301A>G (p.Glu20767=) c.59643A>G (p.Glu19881=) c.59562A>G (p.Glu19854=) c.41325A>G (p.Glu13775=) c.31179A>G (p.Glu10393=) | |
| 2 | g.178578085T>G | CA349672544 | TTN,TTN-AS1 | c.60726A>C (p.Glu20242Asp) c.41811A>C (p.Glu13937Asp) c.41610A>C (p.Glu13870Asp) c.41235A>C (p.Glu13745Asp) c.68430A>C (p.Glu22810Asp) c.63507A>C (p.Glu21169Asp) n.596+6636T>G n.2044-4487T>G c.67527A>C (p.Glu22509Asp) c.41421A>C (p.Glu13807Asp) c.41280A>C (p.Glu13760Asp) c.67323A>C (p.Glu22441Asp) c.62721A>C (p.Glu20907Asp) c.62718A>C (p.Glu20906Asp) c.59760A>C (p.Glu19920Asp) c.41376A>C (p.Glu13792Asp) c.62871A>C (p.Glu20957Asp) c.62868A>C (p.Glu20956Asp) c.62301A>C (p.Glu20767Asp) c.59643A>C (p.Glu19881Asp) c.59562A>C (p.Glu19854Asp) c.41325A>C (p.Glu13775Asp) c.31179A>C (p.Glu10393Asp) | |
| 2 | g.178578086del | CA645534400 | TTN,TTN-AS1 | c.60726del (p.Gly20243ValfsTer13) c.41811del (p.Gly13938ValfsTer13) c.41610del (p.Gly13871ValfsTer13) c.41235del (p.Gly13746ValfsTer13) c.68430del (p.Gly22811ValfsTer13) c.63507del (p.Gly21170ValfsTer13) n.596+6637del n.2044-4486del c.67527del (p.Gly22510ValfsTer13) c.41421del (p.Gly13808ValfsTer13) c.41280del (p.Gly13761ValfsTer13) c.67323del (p.Gly22442ValfsTer13) c.62721del (p.Gly20908ValfsTer13) c.62718del (p.Gly20907ValfsTer13) c.59760del (p.Gly19921ValfsTer13) c.41376del (p.Gly13793ValfsTer13) c.62871del (p.Gly20958ValfsTer13) c.62868del (p.Gly20957ValfsTer13) c.62301del (p.Gly20768ValfsTer13) c.59643del (p.Gly19882ValfsTer13) c.59562del (p.Gly19855ValfsTer13) c.41325del (p.Gly13776ValfsTer13) c.31179del (p.Gly10394ValfsTer13) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178578086T>A | CA349672546 | TTN,TTN-AS1 | c.60725A>T (p.Glu20242Val) c.41810A>T (p.Glu13937Val) c.41609A>T (p.Glu13870Val) c.41234A>T (p.Glu13745Val) c.68429A>T (p.Glu22810Val) c.63506A>T (p.Glu21169Val) n.596+6637T>A n.2044-4486T>A c.67526A>T (p.Glu22509Val) c.41420A>T (p.Glu13807Val) c.41279A>T (p.Glu13760Val) c.67322A>T (p.Glu22441Val) c.62720A>T (p.Glu20907Val) c.62717A>T (p.Glu20906Val) c.59759A>T (p.Glu19920Val) c.41375A>T (p.Glu13792Val) c.62870A>T (p.Glu20957Val) c.62867A>T (p.Glu20956Val) c.62300A>T (p.Glu20767Val) c.59642A>T (p.Glu19881Val) c.59561A>T (p.Glu19854Val) c.41324A>T (p.Glu13775Val) c.31178A>T (p.Glu10393Val) | |
| 2 | g.178578086T>C | CA349672548 | TTN,TTN-AS1 | c.60725A>G (p.Glu20242Gly) c.41810A>G (p.Glu13937Gly) c.41609A>G (p.Glu13870Gly) c.41234A>G (p.Glu13745Gly) c.68429A>G (p.Glu22810Gly) c.63506A>G (p.Glu21169Gly) n.596+6637T>C n.2044-4486T>C c.67526A>G (p.Glu22509Gly) c.41420A>G (p.Glu13807Gly) c.41279A>G (p.Glu13760Gly) c.67322A>G (p.Glu22441Gly) c.62720A>G (p.Glu20907Gly) c.62717A>G (p.Glu20906Gly) c.59759A>G (p.Glu19920Gly) c.41375A>G (p.Glu13792Gly) c.62870A>G (p.Glu20957Gly) c.62867A>G (p.Glu20956Gly) c.62300A>G (p.Glu20767Gly) c.59642A>G (p.Glu19881Gly) c.59561A>G (p.Glu19854Gly) c.41324A>G (p.Glu13775Gly) c.31178A>G (p.Glu10393Gly) | |
| 2 | g.178578086T>G | CA349672550 | TTN,TTN-AS1 | c.60725A>C (p.Glu20242Ala) c.41810A>C (p.Glu13937Ala) c.41609A>C (p.Glu13870Ala) c.41234A>C (p.Glu13745Ala) c.68429A>C (p.Glu22810Ala) c.63506A>C (p.Glu21169Ala) n.596+6637T>G n.2044-4486T>G c.67526A>C (p.Glu22509Ala) c.41420A>C (p.Glu13807Ala) c.41279A>C (p.Glu13760Ala) c.67322A>C (p.Glu22441Ala) c.62720A>C (p.Glu20907Ala) c.62717A>C (p.Glu20906Ala) c.59759A>C (p.Glu19920Ala) c.41375A>C (p.Glu13792Ala) c.62870A>C (p.Glu20957Ala) c.62867A>C (p.Glu20956Ala) c.62300A>C (p.Glu20767Ala) c.59642A>C (p.Glu19881Ala) c.59561A>C (p.Glu19854Ala) c.41324A>C (p.Glu13775Ala) c.31178A>C (p.Glu10393Ala) | |
| 2 | g.178578087C>A | CA349672552 | TTN,TTN-AS1 | c.60724G>T (p.Glu20242Ter) c.41809G>T (p.Glu13937Ter) c.41608G>T (p.Glu13870Ter) c.41233G>T (p.Glu13745Ter) c.68428G>T (p.Glu22810Ter) c.63505G>T (p.Glu21169Ter) n.596+6638C>A n.2044-4485C>A c.67525G>T (p.Glu22509Ter) c.41419G>T (p.Glu13807Ter) c.41278G>T (p.Glu13760Ter) c.67321G>T (p.Glu22441Ter) c.62719G>T (p.Glu20907Ter) c.62716G>T (p.Glu20906Ter) c.59758G>T (p.Glu19920Ter) c.41374G>T (p.Glu13792Ter) c.62869G>T (p.Glu20957Ter) c.62866G>T (p.Glu20956Ter) c.62299G>T (p.Glu20767Ter) c.59641G>T (p.Glu19881Ter) c.59560G>T (p.Glu19854Ter) c.41323G>T (p.Glu13775Ter) c.31177G>T (p.Glu10393Ter) | |
| 2 | g.178578087C>G | CA349672554 | TTN,TTN-AS1 | c.60724G>C (p.Glu20242Gln) c.41809G>C (p.Glu13937Gln) c.41608G>C (p.Glu13870Gln) c.41233G>C (p.Glu13745Gln) c.68428G>C (p.Glu22810Gln) c.63505G>C (p.Glu21169Gln) n.596+6638C>G n.2044-4485C>G c.67525G>C (p.Glu22509Gln) c.41419G>C (p.Glu13807Gln) c.41278G>C (p.Glu13760Gln) c.67321G>C (p.Glu22441Gln) c.62719G>C (p.Glu20907Gln) c.62716G>C (p.Glu20906Gln) c.59758G>C (p.Glu19920Gln) c.41374G>C (p.Glu13792Gln) c.62869G>C (p.Glu20957Gln) c.62866G>C (p.Glu20956Gln) c.62299G>C (p.Glu20767Gln) c.59641G>C (p.Glu19881Gln) c.59560G>C (p.Glu19854Gln) c.41323G>C (p.Glu13775Gln) c.31177G>C (p.Glu10393Gln) | |
| 2 | g.178578087C>T | CA349672557 | TTN,TTN-AS1 | c.60724G>A (p.Glu20242Lys) c.41809G>A (p.Glu13937Lys) c.41608G>A (p.Glu13870Lys) c.41233G>A (p.Glu13745Lys) c.68428G>A (p.Glu22810Lys) c.63505G>A (p.Glu21169Lys) n.596+6638C>T n.2044-4485C>T c.67525G>A (p.Glu22509Lys) c.41419G>A (p.Glu13807Lys) c.41278G>A (p.Glu13760Lys) c.67321G>A (p.Glu22441Lys) c.62719G>A (p.Glu20907Lys) c.62716G>A (p.Glu20906Lys) c.59758G>A (p.Glu19920Lys) c.41374G>A (p.Glu13792Lys) c.62869G>A (p.Glu20957Lys) c.62866G>A (p.Glu20956Lys) c.62299G>A (p.Glu20767Lys) c.59641G>A (p.Glu19881Lys) c.59560G>A (p.Glu19854Lys) c.41323G>A (p.Glu13775Lys) c.31177G>A (p.Glu10393Lys) | |
| 2 | g.178578088del | CA2580064588 | TTN,TTN-AS1 | c.60723del (p.Glu20242LysfsTer14) c.41808del (p.Glu13937LysfsTer14) c.41607del (p.Glu13870LysfsTer14) c.41232del (p.Glu13745LysfsTer14) c.68427del (p.Glu22810LysfsTer14) c.63504del (p.Glu21169LysfsTer14) n.596+6639del n.2044-4484del c.67524del (p.Glu22509LysfsTer14) c.41418del (p.Glu13807LysfsTer14) c.41277del (p.Glu13760LysfsTer14) c.67320del (p.Glu22441LysfsTer14) c.62718del (p.Glu20907LysfsTer14) c.62715del (p.Glu20906LysfsTer14) c.59757del (p.Glu19920LysfsTer14) c.41373del (p.Glu13792LysfsTer14) c.62868del (p.Glu20957LysfsTer14) c.62865del (p.Glu20956LysfsTer14) c.62298del (p.Glu20767LysfsTer14) c.59640del (p.Glu19881LysfsTer14) c.59559del (p.Glu19854LysfsTer14) c.41322del (p.Glu13775LysfsTer14) c.31176del (p.Glu10393LysfsTer14) | ClinVar |
| 2 | g.178578088A>C | CA430259660 | TTN,TTN-AS1 | c.60723T>G (p.Thr20241=) c.41808T>G (p.Thr13936=) c.41607T>G (p.Thr13869=) c.41232T>G (p.Thr13744=) c.68427T>G (p.Thr22809=) c.63504T>G (p.Thr21168=) n.596+6639A>C n.2044-4484A>C c.67524T>G (p.Thr22508=) c.41418T>G (p.Thr13806=) c.41277T>G (p.Thr13759=) c.67320T>G (p.Thr22440=) c.62718T>G (p.Thr20906=) c.62715T>G (p.Thr20905=) c.59757T>G (p.Thr19919=) c.41373T>G (p.Thr13791=) c.62868T>G (p.Thr20956=) c.62865T>G (p.Thr20955=) c.62298T>G (p.Thr20766=) c.59640T>G (p.Thr19880=) c.59559T>G (p.Thr19853=) c.41322T>G (p.Thr13774=) c.31176T>G (p.Thr10392=) | |
| 2 | g.178578088A>G | CA430259661 | TTN,TTN-AS1 | c.60723T>C (p.Thr20241=) c.41808T>C (p.Thr13936=) c.41607T>C (p.Thr13869=) c.41232T>C (p.Thr13744=) c.68427T>C (p.Thr22809=) c.63504T>C (p.Thr21168=) n.596+6639A>G n.2044-4484A>G c.67524T>C (p.Thr22508=) c.41418T>C (p.Thr13806=) c.41277T>C (p.Thr13759=) c.67320T>C (p.Thr22440=) c.62718T>C (p.Thr20906=) c.62715T>C (p.Thr20905=) c.59757T>C (p.Thr19919=) c.41373T>C (p.Thr13791=) c.62868T>C (p.Thr20956=) c.62865T>C (p.Thr20955=) c.62298T>C (p.Thr20766=) c.59640T>C (p.Thr19880=) c.59559T>C (p.Thr19853=) c.41322T>C (p.Thr13774=) c.31176T>C (p.Thr10392=) | |
| 2 | g.178578088A>T | CA430259664 | TTN,TTN-AS1 | c.60723T>A (p.Thr20241=) c.41808T>A (p.Thr13936=) c.41607T>A (p.Thr13869=) c.41232T>A (p.Thr13744=) c.68427T>A (p.Thr22809=) c.63504T>A (p.Thr21168=) n.596+6639A>T n.2044-4484A>T c.67524T>A (p.Thr22508=) c.41418T>A (p.Thr13806=) c.41277T>A (p.Thr13759=) c.67320T>A (p.Thr22440=) c.62718T>A (p.Thr20906=) c.62715T>A (p.Thr20905=) c.59757T>A (p.Thr19919=) c.41373T>A (p.Thr13791=) c.62868T>A (p.Thr20956=) c.62865T>A (p.Thr20955=) c.62298T>A (p.Thr20766=) c.59640T>A (p.Thr19880=) c.59559T>A (p.Thr19853=) c.41322T>A (p.Thr13774=) c.31176T>A (p.Thr10392=) | |
| 2 | g.178578089G>A | CA349672558 | TTN,TTN-AS1 | c.60722C>T (p.Thr20241Ile) c.41807C>T (p.Thr13936Ile) c.41606C>T (p.Thr13869Ile) c.41231C>T (p.Thr13744Ile) c.68426C>T (p.Thr22809Ile) c.63503C>T (p.Thr21168Ile) n.596+6640G>A n.2044-4483G>A c.67523C>T (p.Thr22508Ile) c.41417C>T (p.Thr13806Ile) c.41276C>T (p.Thr13759Ile) c.67319C>T (p.Thr22440Ile) c.62717C>T (p.Thr20906Ile) c.62714C>T (p.Thr20905Ile) c.59756C>T (p.Thr19919Ile) c.41372C>T (p.Thr13791Ile) c.62867C>T (p.Thr20956Ile) c.62864C>T (p.Thr20955Ile) c.62297C>T (p.Thr20766Ile) c.59639C>T (p.Thr19880Ile) c.59558C>T (p.Thr19853Ile) c.41321C>T (p.Thr13774Ile) c.31175C>T (p.Thr10392Ile) | |
| 2 | g.178578089G>C | CA349672560 | TTN,TTN-AS1 | c.60722C>G (p.Thr20241Ser) c.41807C>G (p.Thr13936Ser) c.41606C>G (p.Thr13869Ser) c.41231C>G (p.Thr13744Ser) c.68426C>G (p.Thr22809Ser) c.63503C>G (p.Thr21168Ser) n.596+6640G>C n.2044-4483G>C c.67523C>G (p.Thr22508Ser) c.41417C>G (p.Thr13806Ser) c.41276C>G (p.Thr13759Ser) c.67319C>G (p.Thr22440Ser) c.62717C>G (p.Thr20906Ser) c.62714C>G (p.Thr20905Ser) c.59756C>G (p.Thr19919Ser) c.41372C>G (p.Thr13791Ser) c.62867C>G (p.Thr20956Ser) c.62864C>G (p.Thr20955Ser) c.62297C>G (p.Thr20766Ser) c.59639C>G (p.Thr19880Ser) c.59558C>G (p.Thr19853Ser) c.41321C>G (p.Thr13774Ser) c.31175C>G (p.Thr10392Ser) | |
| 2 | g.178578089G>T | CA349672562 | TTN,TTN-AS1 | c.60722C>A (p.Thr20241Asn) c.41807C>A (p.Thr13936Asn) c.41606C>A (p.Thr13869Asn) c.41231C>A (p.Thr13744Asn) c.68426C>A (p.Thr22809Asn) c.63503C>A (p.Thr21168Asn) n.596+6640G>T n.2044-4483G>T c.67523C>A (p.Thr22508Asn) c.41417C>A (p.Thr13806Asn) c.41276C>A (p.Thr13759Asn) c.67319C>A (p.Thr22440Asn) c.62717C>A (p.Thr20906Asn) c.62714C>A (p.Thr20905Asn) c.59756C>A (p.Thr19919Asn) c.41372C>A (p.Thr13791Asn) c.62867C>A (p.Thr20956Asn) c.62864C>A (p.Thr20955Asn) c.62297C>A (p.Thr20766Asn) c.59639C>A (p.Thr19880Asn) c.59558C>A (p.Thr19853Asn) c.41321C>A (p.Thr13774Asn) c.31175C>A (p.Thr10392Asn) | |
| 2 | g.178578090T>A | CA349672568 | TTN,TTN-AS1 | c.60721A>T (p.Thr20241Ser) c.41806A>T (p.Thr13936Ser) c.41605A>T (p.Thr13869Ser) c.41230A>T (p.Thr13744Ser) c.68425A>T (p.Thr22809Ser) c.63502A>T (p.Thr21168Ser) n.596+6641T>A n.2044-4482T>A c.67522A>T (p.Thr22508Ser) c.41416A>T (p.Thr13806Ser) c.41275A>T (p.Thr13759Ser) c.67318A>T (p.Thr22440Ser) c.62716A>T (p.Thr20906Ser) c.62713A>T (p.Thr20905Ser) c.59755A>T (p.Thr19919Ser) c.41371A>T (p.Thr13791Ser) c.62866A>T (p.Thr20956Ser) c.62863A>T (p.Thr20955Ser) c.62296A>T (p.Thr20766Ser) c.59638A>T (p.Thr19880Ser) c.59557A>T (p.Thr19853Ser) c.41320A>T (p.Thr13774Ser) c.31174A>T (p.Thr10392Ser) | gnomAD v4 |
| 2 | g.178578090T>C | CA349672566 | TTN,TTN-AS1 | c.60721A>G (p.Thr20241Ala) c.41806A>G (p.Thr13936Ala) c.41605A>G (p.Thr13869Ala) c.41230A>G (p.Thr13744Ala) c.68425A>G (p.Thr22809Ala) c.63502A>G (p.Thr21168Ala) n.596+6641T>C n.2044-4482T>C c.67522A>G (p.Thr22508Ala) c.41416A>G (p.Thr13806Ala) c.41275A>G (p.Thr13759Ala) c.67318A>G (p.Thr22440Ala) c.62716A>G (p.Thr20906Ala) c.62713A>G (p.Thr20905Ala) c.59755A>G (p.Thr19919Ala) c.41371A>G (p.Thr13791Ala) c.62866A>G (p.Thr20956Ala) c.62863A>G (p.Thr20955Ala) c.62296A>G (p.Thr20766Ala) c.59638A>G (p.Thr19880Ala) c.59557A>G (p.Thr19853Ala) c.41320A>G (p.Thr13774Ala) c.31174A>G (p.Thr10392Ala) | |
| 2 | g.178578090T>G | CA349672564 | TTN,TTN-AS1 | c.60721A>C (p.Thr20241Pro) c.41806A>C (p.Thr13936Pro) c.41605A>C (p.Thr13869Pro) c.41230A>C (p.Thr13744Pro) c.68425A>C (p.Thr22809Pro) c.63502A>C (p.Thr21168Pro) n.596+6641T>G n.2044-4482T>G c.67522A>C (p.Thr22508Pro) c.41416A>C (p.Thr13806Pro) c.41275A>C (p.Thr13759Pro) c.67318A>C (p.Thr22440Pro) c.62716A>C (p.Thr20906Pro) c.62713A>C (p.Thr20905Pro) c.59755A>C (p.Thr19919Pro) c.41371A>C (p.Thr13791Pro) c.62866A>C (p.Thr20956Pro) c.62863A>C (p.Thr20955Pro) c.62296A>C (p.Thr20766Pro) c.59638A>C (p.Thr19880Pro) c.59557A>C (p.Thr19853Pro) c.41320A>C (p.Thr13774Pro) c.31174A>C (p.Thr10392Pro) | |
| 2 | g.178578091T>A | CA349672572 | TTN,TTN-AS1 | c.60720A>T (p.Leu20240Phe) c.41805A>T (p.Leu13935Phe) c.41604A>T (p.Leu13868Phe) c.41229A>T (p.Leu13743Phe) c.68424A>T (p.Leu22808Phe) c.63501A>T (p.Leu21167Phe) n.596+6642T>A n.2044-4481T>A c.67521A>T (p.Leu22507Phe) c.41415A>T (p.Leu13805Phe) c.41274A>T (p.Leu13758Phe) c.67317A>T (p.Leu22439Phe) c.62715A>T (p.Leu20905Phe) c.62712A>T (p.Leu20904Phe) c.59754A>T (p.Leu19918Phe) c.41370A>T (p.Leu13790Phe) c.62865A>T (p.Leu20955Phe) c.62862A>T (p.Leu20954Phe) c.62295A>T (p.Leu20765Phe) c.59637A>T (p.Leu19879Phe) c.59556A>T (p.Leu19852Phe) c.41319A>T (p.Leu13773Phe) c.31173A>T (p.Leu10391Phe) | |
| 2 | g.178578091T>C | CA430259679 | TTN,TTN-AS1 | c.60720A>G (p.Leu20240=) c.41805A>G (p.Leu13935=) c.41604A>G (p.Leu13868=) c.41229A>G (p.Leu13743=) c.68424A>G (p.Leu22808=) c.63501A>G (p.Leu21167=) n.596+6642T>C n.2044-4481T>C c.67521A>G (p.Leu22507=) c.41415A>G (p.Leu13805=) c.41274A>G (p.Leu13758=) c.67317A>G (p.Leu22439=) c.62715A>G (p.Leu20905=) c.62712A>G (p.Leu20904=) c.59754A>G (p.Leu19918=) c.41370A>G (p.Leu13790=) c.62865A>G (p.Leu20955=) c.62862A>G (p.Leu20954=) c.62295A>G (p.Leu20765=) c.59637A>G (p.Leu19879=) c.59556A>G (p.Leu19852=) c.41319A>G (p.Leu13773=) c.31173A>G (p.Leu10391=) | |
| 2 | g.178578091T>G | CA349672570 | TTN,TTN-AS1 | c.60720A>C (p.Leu20240Phe) c.41805A>C (p.Leu13935Phe) c.41604A>C (p.Leu13868Phe) c.41229A>C (p.Leu13743Phe) c.68424A>C (p.Leu22808Phe) c.63501A>C (p.Leu21167Phe) n.596+6642T>G n.2044-4481T>G c.67521A>C (p.Leu22507Phe) c.41415A>C (p.Leu13805Phe) c.41274A>C (p.Leu13758Phe) c.67317A>C (p.Leu22439Phe) c.62715A>C (p.Leu20905Phe) c.62712A>C (p.Leu20904Phe) c.59754A>C (p.Leu19918Phe) c.41370A>C (p.Leu13790Phe) c.62865A>C (p.Leu20955Phe) c.62862A>C (p.Leu20954Phe) c.62295A>C (p.Leu20765Phe) c.59637A>C (p.Leu19879Phe) c.59556A>C (p.Leu19852Phe) c.41319A>C (p.Leu13773Phe) c.31173A>C (p.Leu10391Phe) | |
| 2 | g.178578092A>C | CA349672575 | TTN,TTN-AS1 | c.60719T>G (p.Leu20240Ter) c.41804T>G (p.Leu13935Ter) c.41603T>G (p.Leu13868Ter) c.41228T>G (p.Leu13743Ter) c.68423T>G (p.Leu22808Ter) c.63500T>G (p.Leu21167Ter) n.596+6643A>C n.2044-4480A>C c.67520T>G (p.Leu22507Ter) c.41414T>G (p.Leu13805Ter) c.41273T>G (p.Leu13758Ter) c.67316T>G (p.Leu22439Ter) c.62714T>G (p.Leu20905Ter) c.62711T>G (p.Leu20904Ter) c.59753T>G (p.Leu19918Ter) c.41369T>G (p.Leu13790Ter) c.62864T>G (p.Leu20955Ter) c.62861T>G (p.Leu20954Ter) c.62294T>G (p.Leu20765Ter) c.59636T>G (p.Leu19879Ter) c.59555T>G (p.Leu19852Ter) c.41318T>G (p.Leu13773Ter) c.31172T>G (p.Leu10391Ter) | |
| 2 | g.178578092A>G | CA349672576 | TTN,TTN-AS1 | c.60719T>C (p.Leu20240Ser) c.41804T>C (p.Leu13935Ser) c.41603T>C (p.Leu13868Ser) c.41228T>C (p.Leu13743Ser) c.68423T>C (p.Leu22808Ser) c.63500T>C (p.Leu21167Ser) n.596+6643A>G n.2044-4480A>G c.67520T>C (p.Leu22507Ser) c.41414T>C (p.Leu13805Ser) c.41273T>C (p.Leu13758Ser) c.67316T>C (p.Leu22439Ser) c.62714T>C (p.Leu20905Ser) c.62711T>C (p.Leu20904Ser) c.59753T>C (p.Leu19918Ser) c.41369T>C (p.Leu13790Ser) c.62864T>C (p.Leu20955Ser) c.62861T>C (p.Leu20954Ser) c.62294T>C (p.Leu20765Ser) c.59636T>C (p.Leu19879Ser) c.59555T>C (p.Leu19852Ser) c.41318T>C (p.Leu13773Ser) c.31172T>C (p.Leu10391Ser) | |
| 2 | g.178578092A>T | CA349672578 | TTN,TTN-AS1 | c.60719T>A (p.Leu20240Ter) c.41804T>A (p.Leu13935Ter) c.41603T>A (p.Leu13868Ter) c.41228T>A (p.Leu13743Ter) c.68423T>A (p.Leu22808Ter) c.63500T>A (p.Leu21167Ter) n.596+6643A>T n.2044-4480A>T c.67520T>A (p.Leu22507Ter) c.41414T>A (p.Leu13805Ter) c.41273T>A (p.Leu13758Ter) c.67316T>A (p.Leu22439Ter) c.62714T>A (p.Leu20905Ter) c.62711T>A (p.Leu20904Ter) c.59753T>A (p.Leu19918Ter) c.41369T>A (p.Leu13790Ter) c.62864T>A (p.Leu20955Ter) c.62861T>A (p.Leu20954Ter) c.62294T>A (p.Leu20765Ter) c.59636T>A (p.Leu19879Ter) c.59555T>A (p.Leu19852Ter) c.41318T>A (p.Leu13773Ter) c.31172T>A (p.Leu10391Ter) | |
| 2 | g.178578093A= | CA1310534398 | TTN,TTN-AS1 | c.60718T= (p.Leu20240=) c.41803T= (p.Leu13935=) c.41602T= (p.Leu13868=) c.41227T= (p.Leu13743=) c.68422T= (p.Leu22808=) c.63499T= (p.Leu21167=) n.596+6644A= n.2044-4479A= c.67519T= (p.Leu22507=) c.41413T= (p.Leu13805=) c.41272T= (p.Leu13758=) c.67315T= (p.Leu22439=) c.62713T= (p.Leu20905=) c.62710T= (p.Leu20904=) c.59752T= (p.Leu19918=) c.41368T= (p.Leu13790=) c.62863T= (p.Leu20955=) c.62860T= (p.Leu20954=) c.62293T= (p.Leu20765=) c.59635T= (p.Leu19879=) c.59554T= (p.Leu19852=) c.41317T= (p.Leu13773=) c.31171T= (p.Leu10391=) |