| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178544356C>A | CA349456541 | TTN,TTN-AS1 | c.88169G>T (p.Arg29390Leu) c.69254G>T (p.Arg23085Leu) c.69053G>T (p.Arg23018Leu) c.68678G>T (p.Arg22893Leu) c.95873G>T (p.Arg31958Leu) c.90950G>T (p.Arg30317Leu) n.446+20720C>A n.2043+1995C>A c.94970G>T (p.Arg31657Leu) c.68864G>T (p.Arg22955Leu) c.68723G>T (p.Arg22908Leu) c.94766G>T (p.Arg31589Leu) c.90164G>T (p.Arg30055Leu) c.90161G>T (p.Arg30054Leu) c.87203G>T (p.Arg29068Leu) c.68819G>T (p.Arg22940Leu) c.90314G>T (p.Arg30105Leu) c.90311G>T (p.Arg30104Leu) c.89744G>T (p.Arg29915Leu) c.87086G>T (p.Arg29029Leu) c.87005G>T (p.Arg29002Leu) c.68768G>T (p.Arg22923Leu) c.58622G>T (p.Arg19541Leu) | |
| 2 | g.178544356C= | CA1310521540 | TTN,TTN-AS1 | c.88169G= (p.Arg29390=) c.69254G= (p.Arg23085=) c.69053G= (p.Arg23018=) c.68678G= (p.Arg22893=) c.95873G= (p.Arg31958=) c.90950G= (p.Arg30317=) n.446+20720C= n.2043+1995C= c.94970G= (p.Arg31657=) c.68864G= (p.Arg22955=) c.68723G= (p.Arg22908=) c.94766G= (p.Arg31589=) c.90164G= (p.Arg30055=) c.90161G= (p.Arg30054=) c.87203G= (p.Arg29068=) c.68819G= (p.Arg22940=) c.90314G= (p.Arg30105=) c.90311G= (p.Arg30104=) c.89744G= (p.Arg29915=) c.87086G= (p.Arg29029=) c.87005G= (p.Arg29002=) c.68768G= (p.Arg22923=) c.58622G= (p.Arg19541=) | |
| 2 | g.178544356C>G | CA349456544 | TTN,TTN-AS1 | c.88169G>C (p.Arg29390Pro) c.69254G>C (p.Arg23085Pro) c.69053G>C (p.Arg23018Pro) c.68678G>C (p.Arg22893Pro) c.95873G>C (p.Arg31958Pro) c.90950G>C (p.Arg30317Pro) n.446+20720C>G n.2043+1995C>G c.94970G>C (p.Arg31657Pro) c.68864G>C (p.Arg22955Pro) c.68723G>C (p.Arg22908Pro) c.94766G>C (p.Arg31589Pro) c.90164G>C (p.Arg30055Pro) c.90161G>C (p.Arg30054Pro) c.87203G>C (p.Arg29068Pro) c.68819G>C (p.Arg22940Pro) c.90314G>C (p.Arg30105Pro) c.90311G>C (p.Arg30104Pro) c.89744G>C (p.Arg29915Pro) c.87086G>C (p.Arg29029Pro) c.87005G>C (p.Arg29002Pro) c.68768G>C (p.Arg22923Pro) c.58622G>C (p.Arg19541Pro) | |
| 2 | g.178544356C>T | CA310989 | TTN,TTN-AS1 | c.88169G>A (p.Arg29390Gln) c.69254G>A (p.Arg23085Gln) c.69053G>A (p.Arg23018Gln) c.68678G>A (p.Arg22893Gln) c.95873G>A (p.Arg31958Gln) c.90950G>A (p.Arg30317Gln) n.446+20720C>T n.2043+1995C>T c.94970G>A (p.Arg31657Gln) c.68864G>A (p.Arg22955Gln) c.68723G>A (p.Arg22908Gln) c.94766G>A (p.Arg31589Gln) c.90164G>A (p.Arg30055Gln) c.90161G>A (p.Arg30054Gln) c.87203G>A (p.Arg29068Gln) c.68819G>A (p.Arg22940Gln) c.90314G>A (p.Arg30105Gln) c.90311G>A (p.Arg30104Gln) c.89744G>A (p.Arg29915Gln) c.87086G>A (p.Arg29029Gln) c.87005G>A (p.Arg29002Gln) c.68768G>A (p.Arg22923Gln) c.58622G>A (p.Arg19541Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544357G>A | CA349456554 | TTN,TTN-AS1 | c.88168C>T (p.Arg29390Ter) c.69253C>T (p.Arg23085Ter) c.69052C>T (p.Arg23018Ter) c.68677C>T (p.Arg22893Ter) c.95872C>T (p.Arg31958Ter) c.90949C>T (p.Arg30317Ter) n.446+20721G>A n.2043+1996G>A c.94969C>T (p.Arg31657Ter) c.68863C>T (p.Arg22955Ter) c.68722C>T (p.Arg22908Ter) c.94765C>T (p.Arg31589Ter) c.90163C>T (p.Arg30055Ter) c.90160C>T (p.Arg30054Ter) c.87202C>T (p.Arg29068Ter) c.68818C>T (p.Arg22940Ter) c.90313C>T (p.Arg30105Ter) c.90310C>T (p.Arg30104Ter) c.89743C>T (p.Arg29915Ter) c.87085C>T (p.Arg29029Ter) c.87004C>T (p.Arg29002Ter) c.68767C>T (p.Arg22923Ter) c.58621C>T (p.Arg19541Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178544357G>C | CA349456558 | TTN,TTN-AS1 | c.88168C>G (p.Arg29390Gly) c.69253C>G (p.Arg23085Gly) c.69052C>G (p.Arg23018Gly) c.68677C>G (p.Arg22893Gly) c.95872C>G (p.Arg31958Gly) c.90949C>G (p.Arg30317Gly) n.446+20721G>C n.2043+1996G>C c.94969C>G (p.Arg31657Gly) c.68863C>G (p.Arg22955Gly) c.68722C>G (p.Arg22908Gly) c.94765C>G (p.Arg31589Gly) c.90163C>G (p.Arg30055Gly) c.90160C>G (p.Arg30054Gly) c.87202C>G (p.Arg29068Gly) c.68818C>G (p.Arg22940Gly) c.90313C>G (p.Arg30105Gly) c.90310C>G (p.Arg30104Gly) c.89743C>G (p.Arg29915Gly) c.87085C>G (p.Arg29029Gly) c.87004C>G (p.Arg29002Gly) c.68767C>G (p.Arg22923Gly) c.58621C>G (p.Arg19541Gly) | |
| 2 | g.178544357G>T | CA430241822 | TTN,TTN-AS1 | c.88168C>A (p.Arg29390=) c.69253C>A (p.Arg23085=) c.69052C>A (p.Arg23018=) c.68677C>A (p.Arg22893=) c.95872C>A (p.Arg31958=) c.90949C>A (p.Arg30317=) n.446+20721G>T n.2043+1996G>T c.94969C>A (p.Arg31657=) c.68863C>A (p.Arg22955=) c.68722C>A (p.Arg22908=) c.94765C>A (p.Arg31589=) c.90163C>A (p.Arg30055=) c.90160C>A (p.Arg30054=) c.87202C>A (p.Arg29068=) c.68818C>A (p.Arg22940=) c.90313C>A (p.Arg30105=) c.90310C>A (p.Arg30104=) c.89743C>A (p.Arg29915=) c.87085C>A (p.Arg29029=) c.87004C>A (p.Arg29002=) c.68767C>A (p.Arg22923=) c.58621C>A (p.Arg19541=) | |
| 2 | g.178544358G>A | CA430241823 | TTN,TTN-AS1 | c.88167C>T (p.Tyr29389=) c.69252C>T (p.Tyr23084=) c.69051C>T (p.Tyr23017=) c.68676C>T (p.Tyr22892=) c.95871C>T (p.Tyr31957=) c.90948C>T (p.Tyr30316=) n.446+20722G>A n.2043+1997G>A c.94968C>T (p.Tyr31656=) c.68862C>T (p.Tyr22954=) c.68721C>T (p.Tyr22907=) c.94764C>T (p.Tyr31588=) c.90162C>T (p.Tyr30054=) c.90159C>T (p.Tyr30053=) c.87201C>T (p.Tyr29067=) c.68817C>T (p.Tyr22939=) c.90312C>T (p.Tyr30104=) c.90309C>T (p.Tyr30103=) c.89742C>T (p.Tyr29914=) c.87084C>T (p.Tyr29028=) c.87003C>T (p.Tyr29001=) c.68766C>T (p.Tyr22922=) c.58620C>T (p.Tyr19540=) | |
| 2 | g.178544358G>C | CA349456561 | TTN,TTN-AS1 | c.88167C>G (p.Tyr29389Ter) c.69252C>G (p.Tyr23084Ter) c.69051C>G (p.Tyr23017Ter) c.68676C>G (p.Tyr22892Ter) c.95871C>G (p.Tyr31957Ter) c.90948C>G (p.Tyr30316Ter) n.446+20722G>C n.2043+1997G>C c.94968C>G (p.Tyr31656Ter) c.68862C>G (p.Tyr22954Ter) c.68721C>G (p.Tyr22907Ter) c.94764C>G (p.Tyr31588Ter) c.90162C>G (p.Tyr30054Ter) c.90159C>G (p.Tyr30053Ter) c.87201C>G (p.Tyr29067Ter) c.68817C>G (p.Tyr22939Ter) c.90312C>G (p.Tyr30104Ter) c.90309C>G (p.Tyr30103Ter) c.89742C>G (p.Tyr29914Ter) c.87084C>G (p.Tyr29028Ter) c.87003C>G (p.Tyr29001Ter) c.68766C>G (p.Tyr22922Ter) c.58620C>G (p.Tyr19540Ter) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178544358G>T | CA349456565 | TTN,TTN-AS1 | c.88167C>A (p.Tyr29389Ter) c.69252C>A (p.Tyr23084Ter) c.69051C>A (p.Tyr23017Ter) c.68676C>A (p.Tyr22892Ter) c.95871C>A (p.Tyr31957Ter) c.90948C>A (p.Tyr30316Ter) n.446+20722G>T n.2043+1997G>T c.94968C>A (p.Tyr31656Ter) c.68862C>A (p.Tyr22954Ter) c.68721C>A (p.Tyr22907Ter) c.94764C>A (p.Tyr31588Ter) c.90162C>A (p.Tyr30054Ter) c.90159C>A (p.Tyr30053Ter) c.87201C>A (p.Tyr29067Ter) c.68817C>A (p.Tyr22939Ter) c.90312C>A (p.Tyr30104Ter) c.90309C>A (p.Tyr30103Ter) c.89742C>A (p.Tyr29914Ter) c.87084C>A (p.Tyr29028Ter) c.87003C>A (p.Tyr29001Ter) c.68766C>A (p.Tyr22922Ter) c.58620C>A (p.Tyr19540Ter) | |
| 2 | g.178544359T>A | CA349456569 | TTN,TTN-AS1 | c.88166A>T (p.Tyr29389Phe) c.69251A>T (p.Tyr23084Phe) c.69050A>T (p.Tyr23017Phe) c.68675A>T (p.Tyr22892Phe) c.95870A>T (p.Tyr31957Phe) c.90947A>T (p.Tyr30316Phe) n.446+20723T>A n.2043+1998T>A c.94967A>T (p.Tyr31656Phe) c.68861A>T (p.Tyr22954Phe) c.68720A>T (p.Tyr22907Phe) c.94763A>T (p.Tyr31588Phe) c.90161A>T (p.Tyr30054Phe) c.90158A>T (p.Tyr30053Phe) c.87200A>T (p.Tyr29067Phe) c.68816A>T (p.Tyr22939Phe) c.90311A>T (p.Tyr30104Phe) c.90308A>T (p.Tyr30103Phe) c.89741A>T (p.Tyr29914Phe) c.87083A>T (p.Tyr29028Phe) c.87002A>T (p.Tyr29001Phe) c.68765A>T (p.Tyr22922Phe) c.58619A>T (p.Tyr19540Phe) | |
| 2 | g.178544359T>C | CA349456570 | TTN,TTN-AS1 | c.88166A>G (p.Tyr29389Cys) c.69251A>G (p.Tyr23084Cys) c.69050A>G (p.Tyr23017Cys) c.68675A>G (p.Tyr22892Cys) c.95870A>G (p.Tyr31957Cys) c.90947A>G (p.Tyr30316Cys) n.446+20723T>C n.2043+1998T>C c.94967A>G (p.Tyr31656Cys) c.68861A>G (p.Tyr22954Cys) c.68720A>G (p.Tyr22907Cys) c.94763A>G (p.Tyr31588Cys) c.90161A>G (p.Tyr30054Cys) c.90158A>G (p.Tyr30053Cys) c.87200A>G (p.Tyr29067Cys) c.68816A>G (p.Tyr22939Cys) c.90311A>G (p.Tyr30104Cys) c.90308A>G (p.Tyr30103Cys) c.89741A>G (p.Tyr29914Cys) c.87083A>G (p.Tyr29028Cys) c.87002A>G (p.Tyr29001Cys) c.68765A>G (p.Tyr22922Cys) c.58619A>G (p.Tyr19540Cys) | |
| 2 | g.178544359T>G | CA349456571 | TTN,TTN-AS1 | c.88166A>C (p.Tyr29389Ser) c.69251A>C (p.Tyr23084Ser) c.69050A>C (p.Tyr23017Ser) c.68675A>C (p.Tyr22892Ser) c.95870A>C (p.Tyr31957Ser) c.90947A>C (p.Tyr30316Ser) n.446+20723T>G n.2043+1998T>G c.94967A>C (p.Tyr31656Ser) c.68861A>C (p.Tyr22954Ser) c.68720A>C (p.Tyr22907Ser) c.94763A>C (p.Tyr31588Ser) c.90161A>C (p.Tyr30054Ser) c.90158A>C (p.Tyr30053Ser) c.87200A>C (p.Tyr29067Ser) c.68816A>C (p.Tyr22939Ser) c.90311A>C (p.Tyr30104Ser) c.90308A>C (p.Tyr30103Ser) c.89741A>C (p.Tyr29914Ser) c.87083A>C (p.Tyr29028Ser) c.87002A>C (p.Tyr29001Ser) c.68765A>C (p.Tyr22922Ser) c.58619A>C (p.Tyr19540Ser) | |
| 2 | g.178544360A= | CA1310521542 | TTN,TTN-AS1 | c.88165T= (p.Tyr29389=) c.69250T= (p.Tyr23084=) c.69049T= (p.Tyr23017=) c.68674T= (p.Tyr22892=) c.95869T= (p.Tyr31957=) c.90946T= (p.Tyr30316=) n.446+20724A= n.2043+1999A= c.94966T= (p.Tyr31656=) c.68860T= (p.Tyr22954=) c.68719T= (p.Tyr22907=) c.94762T= (p.Tyr31588=) c.90160T= (p.Tyr30054=) c.90157T= (p.Tyr30053=) c.87199T= (p.Tyr29067=) c.68815T= (p.Tyr22939=) c.90310T= (p.Tyr30104=) c.90307T= (p.Tyr30103=) c.89740T= (p.Tyr29914=) c.87082T= (p.Tyr29028=) c.87001T= (p.Tyr29001=) c.68764T= (p.Tyr22922=) c.58618T= (p.Tyr19540=) | |
| 2 | g.178544360A>C | CA349456572 | TTN,TTN-AS1 | c.88165T>G (p.Tyr29389Asp) c.69250T>G (p.Tyr23084Asp) c.69049T>G (p.Tyr23017Asp) c.68674T>G (p.Tyr22892Asp) c.95869T>G (p.Tyr31957Asp) c.90946T>G (p.Tyr30316Asp) n.446+20724A>C n.2043+1999A>C c.94966T>G (p.Tyr31656Asp) c.68860T>G (p.Tyr22954Asp) c.68719T>G (p.Tyr22907Asp) c.94762T>G (p.Tyr31588Asp) c.90160T>G (p.Tyr30054Asp) c.90157T>G (p.Tyr30053Asp) c.87199T>G (p.Tyr29067Asp) c.68815T>G (p.Tyr22939Asp) c.90310T>G (p.Tyr30104Asp) c.90307T>G (p.Tyr30103Asp) c.89740T>G (p.Tyr29914Asp) c.87082T>G (p.Tyr29028Asp) c.87001T>G (p.Tyr29001Asp) c.68764T>G (p.Tyr22922Asp) c.58618T>G (p.Tyr19540Asp) | |
| 2 | g.178544360A>G | CA349456584 | TTN,TTN-AS1 | c.88165T>C (p.Tyr29389His) c.69250T>C (p.Tyr23084His) c.69049T>C (p.Tyr23017His) c.68674T>C (p.Tyr22892His) c.95869T>C (p.Tyr31957His) c.90946T>C (p.Tyr30316His) n.446+20724A>G n.2043+1999A>G c.94966T>C (p.Tyr31656His) c.68860T>C (p.Tyr22954His) c.68719T>C (p.Tyr22907His) c.94762T>C (p.Tyr31588His) c.90160T>C (p.Tyr30054His) c.90157T>C (p.Tyr30053His) c.87199T>C (p.Tyr29067His) c.68815T>C (p.Tyr22939His) c.90310T>C (p.Tyr30104His) c.90307T>C (p.Tyr30103His) c.89740T>C (p.Tyr29914His) c.87082T>C (p.Tyr29028His) c.87001T>C (p.Tyr29001His) c.68764T>C (p.Tyr22922His) c.58618T>C (p.Tyr19540His) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178544360A>T | CA349456573 | TTN,TTN-AS1 | c.88165T>A (p.Tyr29389Asn) c.69250T>A (p.Tyr23084Asn) c.69049T>A (p.Tyr23017Asn) c.68674T>A (p.Tyr22892Asn) c.95869T>A (p.Tyr31957Asn) c.90946T>A (p.Tyr30316Asn) n.446+20724A>T n.2043+1999A>T c.94966T>A (p.Tyr31656Asn) c.68860T>A (p.Tyr22954Asn) c.68719T>A (p.Tyr22907Asn) c.94762T>A (p.Tyr31588Asn) c.90160T>A (p.Tyr30054Asn) c.90157T>A (p.Tyr30053Asn) c.87199T>A (p.Tyr29067Asn) c.68815T>A (p.Tyr22939Asn) c.90310T>A (p.Tyr30104Asn) c.90307T>A (p.Tyr30103Asn) c.89740T>A (p.Tyr29914Asn) c.87082T>A (p.Tyr29028Asn) c.87001T>A (p.Tyr29001Asn) c.68764T>A (p.Tyr22922Asn) c.58618T>A (p.Tyr19540Asn) | |
| 2 | g.178544361C>A | CA349456587 | TTN,TTN-AS1 | c.88164G>T (p.Trp29388Cys) c.69249G>T (p.Trp23083Cys) c.69048G>T (p.Trp23016Cys) c.68673G>T (p.Trp22891Cys) c.95868G>T (p.Trp31956Cys) c.90945G>T (p.Trp30315Cys) n.446+20725C>A n.2043+2000C>A c.94965G>T (p.Trp31655Cys) c.68859G>T (p.Trp22953Cys) c.68718G>T (p.Trp22906Cys) c.94761G>T (p.Trp31587Cys) c.90159G>T (p.Trp30053Cys) c.90156G>T (p.Trp30052Cys) c.87198G>T (p.Trp29066Cys) c.68814G>T (p.Trp22938Cys) c.90309G>T (p.Trp30103Cys) c.90306G>T (p.Trp30102Cys) c.89739G>T (p.Trp29913Cys) c.87081G>T (p.Trp29027Cys) c.87000G>T (p.Trp29000Cys) c.68763G>T (p.Trp22921Cys) c.58617G>T (p.Trp19539Cys) | |
| 2 | g.178544361C>G | CA349456606 | TTN,TTN-AS1 | c.88164G>C (p.Trp29388Cys) c.69249G>C (p.Trp23083Cys) c.69048G>C (p.Trp23016Cys) c.68673G>C (p.Trp22891Cys) c.95868G>C (p.Trp31956Cys) c.90945G>C (p.Trp30315Cys) n.446+20725C>G n.2043+2000C>G c.94965G>C (p.Trp31655Cys) c.68859G>C (p.Trp22953Cys) c.68718G>C (p.Trp22906Cys) c.94761G>C (p.Trp31587Cys) c.90159G>C (p.Trp30053Cys) c.90156G>C (p.Trp30052Cys) c.87198G>C (p.Trp29066Cys) c.68814G>C (p.Trp22938Cys) c.90309G>C (p.Trp30103Cys) c.90306G>C (p.Trp30102Cys) c.89739G>C (p.Trp29913Cys) c.87081G>C (p.Trp29027Cys) c.87000G>C (p.Trp29000Cys) c.68763G>C (p.Trp22921Cys) c.58617G>C (p.Trp19539Cys) | |
| 2 | g.178544361C>T | CA349456608 | TTN,TTN-AS1 | c.88164G>A (p.Trp29388Ter) c.69249G>A (p.Trp23083Ter) c.69048G>A (p.Trp23016Ter) c.68673G>A (p.Trp22891Ter) c.95868G>A (p.Trp31956Ter) c.90945G>A (p.Trp30315Ter) n.446+20725C>T n.2043+2000C>T c.94965G>A (p.Trp31655Ter) c.68859G>A (p.Trp22953Ter) c.68718G>A (p.Trp22906Ter) c.94761G>A (p.Trp31587Ter) c.90159G>A (p.Trp30053Ter) c.90156G>A (p.Trp30052Ter) c.87198G>A (p.Trp29066Ter) c.68814G>A (p.Trp22938Ter) c.90309G>A (p.Trp30103Ter) c.90306G>A (p.Trp30102Ter) c.89739G>A (p.Trp29913Ter) c.87081G>A (p.Trp29027Ter) c.87000G>A (p.Trp29000Ter) c.68763G>A (p.Trp22921Ter) c.58617G>A (p.Trp19539Ter) | |
| 2 | g.178544362C>A | CA349456611 | TTN,TTN-AS1 | c.88163G>T (p.Trp29388Leu) c.69248G>T (p.Trp23083Leu) c.69047G>T (p.Trp23016Leu) c.68672G>T (p.Trp22891Leu) c.95867G>T (p.Trp31956Leu) c.90944G>T (p.Trp30315Leu) n.446+20726C>A n.2043+2001C>A c.94964G>T (p.Trp31655Leu) c.68858G>T (p.Trp22953Leu) c.68717G>T (p.Trp22906Leu) c.94760G>T (p.Trp31587Leu) c.90158G>T (p.Trp30053Leu) c.90155G>T (p.Trp30052Leu) c.87197G>T (p.Trp29066Leu) c.68813G>T (p.Trp22938Leu) c.90308G>T (p.Trp30103Leu) c.90305G>T (p.Trp30102Leu) c.89738G>T (p.Trp29913Leu) c.87080G>T (p.Trp29027Leu) c.86999G>T (p.Trp29000Leu) c.68762G>T (p.Trp22921Leu) c.58616G>T (p.Trp19539Leu) | |
| 2 | g.178544362C>G | CA349456613 | TTN,TTN-AS1 | c.88163G>C (p.Trp29388Ser) c.69248G>C (p.Trp23083Ser) c.69047G>C (p.Trp23016Ser) c.68672G>C (p.Trp22891Ser) c.95867G>C (p.Trp31956Ser) c.90944G>C (p.Trp30315Ser) n.446+20726C>G n.2043+2001C>G c.94964G>C (p.Trp31655Ser) c.68858G>C (p.Trp22953Ser) c.68717G>C (p.Trp22906Ser) c.94760G>C (p.Trp31587Ser) c.90158G>C (p.Trp30053Ser) c.90155G>C (p.Trp30052Ser) c.87197G>C (p.Trp29066Ser) c.68813G>C (p.Trp22938Ser) c.90308G>C (p.Trp30103Ser) c.90305G>C (p.Trp30102Ser) c.89738G>C (p.Trp29913Ser) c.87080G>C (p.Trp29027Ser) c.86999G>C (p.Trp29000Ser) c.68762G>C (p.Trp22921Ser) c.58616G>C (p.Trp19539Ser) | gnomAD v4 |
| 2 | g.178544362C>T | CA349456619 | TTN,TTN-AS1 | c.88163G>A (p.Trp29388Ter) c.69248G>A (p.Trp23083Ter) c.69047G>A (p.Trp23016Ter) c.68672G>A (p.Trp22891Ter) c.95867G>A (p.Trp31956Ter) c.90944G>A (p.Trp30315Ter) n.446+20726C>T n.2043+2001C>T c.94964G>A (p.Trp31655Ter) c.68858G>A (p.Trp22953Ter) c.68717G>A (p.Trp22906Ter) c.94760G>A (p.Trp31587Ter) c.90158G>A (p.Trp30053Ter) c.90155G>A (p.Trp30052Ter) c.87197G>A (p.Trp29066Ter) c.68813G>A (p.Trp22938Ter) c.90308G>A (p.Trp30103Ter) c.90305G>A (p.Trp30102Ter) c.89738G>A (p.Trp29913Ter) c.87080G>A (p.Trp29027Ter) c.86999G>A (p.Trp29000Ter) c.68762G>A (p.Trp22921Ter) c.58616G>A (p.Trp19539Ter) | |
| 2 | g.178544363A= | CA1310521544 | TTN,TTN-AS1 | c.88162T= (p.Trp29388=) c.69247T= (p.Trp23083=) c.69046T= (p.Trp23016=) c.68671T= (p.Trp22891=) c.95866T= (p.Trp31956=) c.90943T= (p.Trp30315=) n.446+20727A= n.2043+2002A= c.94963T= (p.Trp31655=) c.68857T= (p.Trp22953=) c.68716T= (p.Trp22906=) c.94759T= (p.Trp31587=) c.90157T= (p.Trp30053=) c.90154T= (p.Trp30052=) c.87196T= (p.Trp29066=) c.68812T= (p.Trp22938=) c.90307T= (p.Trp30103=) c.90304T= (p.Trp30102=) c.89737T= (p.Trp29913=) c.87079T= (p.Trp29027=) c.86998T= (p.Trp29000=) c.68761T= (p.Trp22921=) c.58615T= (p.Trp19539=) | |
| 2 | g.178544363A>C | CA349456622 | TTN,TTN-AS1 | c.88162T>G (p.Trp29388Gly) c.69247T>G (p.Trp23083Gly) c.69046T>G (p.Trp23016Gly) c.68671T>G (p.Trp22891Gly) c.95866T>G (p.Trp31956Gly) c.90943T>G (p.Trp30315Gly) n.446+20727A>C n.2043+2002A>C c.94963T>G (p.Trp31655Gly) c.68857T>G (p.Trp22953Gly) c.68716T>G (p.Trp22906Gly) c.94759T>G (p.Trp31587Gly) c.90157T>G (p.Trp30053Gly) c.90154T>G (p.Trp30052Gly) c.87196T>G (p.Trp29066Gly) c.68812T>G (p.Trp22938Gly) c.90307T>G (p.Trp30103Gly) c.90304T>G (p.Trp30102Gly) c.89737T>G (p.Trp29913Gly) c.87079T>G (p.Trp29027Gly) c.86998T>G (p.Trp29000Gly) c.68761T>G (p.Trp22921Gly) c.58615T>G (p.Trp19539Gly) | |
| 2 | g.178544363A>G | CA349456624 | TTN,TTN-AS1 | c.88162T>C (p.Trp29388Arg) c.69247T>C (p.Trp23083Arg) c.69046T>C (p.Trp23016Arg) c.68671T>C (p.Trp22891Arg) c.95866T>C (p.Trp31956Arg) c.90943T>C (p.Trp30315Arg) n.446+20727A>G n.2043+2002A>G c.94963T>C (p.Trp31655Arg) c.68857T>C (p.Trp22953Arg) c.68716T>C (p.Trp22906Arg) c.94759T>C (p.Trp31587Arg) c.90157T>C (p.Trp30053Arg) c.90154T>C (p.Trp30052Arg) c.87196T>C (p.Trp29066Arg) c.68812T>C (p.Trp22938Arg) c.90307T>C (p.Trp30103Arg) c.90304T>C (p.Trp30102Arg) c.89737T>C (p.Trp29913Arg) c.87079T>C (p.Trp29027Arg) c.86998T>C (p.Trp29000Arg) c.68761T>C (p.Trp22921Arg) c.58615T>C (p.Trp19539Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178544363A>T | CA349456629 | TTN,TTN-AS1 | c.88162T>A (p.Trp29388Arg) c.69247T>A (p.Trp23083Arg) c.69046T>A (p.Trp23016Arg) c.68671T>A (p.Trp22891Arg) c.95866T>A (p.Trp31956Arg) c.90943T>A (p.Trp30315Arg) n.446+20727A>T n.2043+2002A>T c.94963T>A (p.Trp31655Arg) c.68857T>A (p.Trp22953Arg) c.68716T>A (p.Trp22906Arg) c.94759T>A (p.Trp31587Arg) c.90157T>A (p.Trp30053Arg) c.90154T>A (p.Trp30052Arg) c.87196T>A (p.Trp29066Arg) c.68812T>A (p.Trp22938Arg) c.90307T>A (p.Trp30103Arg) c.90304T>A (p.Trp30102Arg) c.89737T>A (p.Trp29913Arg) c.87079T>A (p.Trp29027Arg) c.86998T>A (p.Trp29000Arg) c.68761T>A (p.Trp22921Arg) c.58615T>A (p.Trp19539Arg) | |
| 2 | g.178544364C>A | CA349456637 | TTN,TTN-AS1 | c.88161G>T (p.Gln29387His) c.69246G>T (p.Gln23082His) c.69045G>T (p.Gln23015His) c.68670G>T (p.Gln22890His) c.95865G>T (p.Gln31955His) c.90942G>T (p.Gln30314His) n.446+20728C>A n.2043+2003C>A c.94962G>T (p.Gln31654His) c.68856G>T (p.Gln22952His) c.68715G>T (p.Gln22905His) c.94758G>T (p.Gln31586His) c.90156G>T (p.Gln30052His) c.90153G>T (p.Gln30051His) c.87195G>T (p.Gln29065His) c.68811G>T (p.Gln22937His) c.90306G>T (p.Gln30102His) c.90303G>T (p.Gln30101His) c.89736G>T (p.Gln29912His) c.87078G>T (p.Gln29026His) c.86997G>T (p.Gln28999His) c.68760G>T (p.Gln22920His) c.58614G>T (p.Gln19538His) | |
| 2 | g.178544364C= | CA1310521546 | TTN,TTN-AS1 | c.88161G= (p.Gln29387=) c.69246G= (p.Gln23082=) c.69045G= (p.Gln23015=) c.68670G= (p.Gln22890=) c.95865G= (p.Gln31955=) c.90942G= (p.Gln30314=) n.446+20728C= n.2043+2003C= c.94962G= (p.Gln31654=) c.68856G= (p.Gln22952=) c.68715G= (p.Gln22905=) c.94758G= (p.Gln31586=) c.90156G= (p.Gln30052=) c.90153G= (p.Gln30051=) c.87195G= (p.Gln29065=) c.68811G= (p.Gln22937=) c.90306G= (p.Gln30102=) c.90303G= (p.Gln30101=) c.89736G= (p.Gln29912=) c.87078G= (p.Gln29026=) c.86997G= (p.Gln28999=) c.68760G= (p.Gln22920=) c.58614G= (p.Gln19538=) | |
| 2 | g.178544364C>G | CA349456639 | TTN,TTN-AS1 | c.88161G>C (p.Gln29387His) c.69246G>C (p.Gln23082His) c.69045G>C (p.Gln23015His) c.68670G>C (p.Gln22890His) c.95865G>C (p.Gln31955His) c.90942G>C (p.Gln30314His) n.446+20728C>G n.2043+2003C>G c.94962G>C (p.Gln31654His) c.68856G>C (p.Gln22952His) c.68715G>C (p.Gln22905His) c.94758G>C (p.Gln31586His) c.90156G>C (p.Gln30052His) c.90153G>C (p.Gln30051His) c.87195G>C (p.Gln29065His) c.68811G>C (p.Gln22937His) c.90306G>C (p.Gln30102His) c.90303G>C (p.Gln30101His) c.89736G>C (p.Gln29912His) c.87078G>C (p.Gln29026His) c.86997G>C (p.Gln28999His) c.68760G>C (p.Gln22920His) c.58614G>C (p.Gln19538His) | |
| 2 | g.178544364C>T | CA1986862 | TTN,TTN-AS1 | c.88161G>A (p.Gln29387=) c.69246G>A (p.Gln23082=) c.69045G>A (p.Gln23015=) c.68670G>A (p.Gln22890=) c.95865G>A (p.Gln31955=) c.90942G>A (p.Gln30314=) n.446+20728C>T n.2043+2003C>T c.94962G>A (p.Gln31654=) c.68856G>A (p.Gln22952=) c.68715G>A (p.Gln22905=) c.94758G>A (p.Gln31586=) c.90156G>A (p.Gln30052=) c.90153G>A (p.Gln30051=) c.87195G>A (p.Gln29065=) c.68811G>A (p.Gln22937=) c.90306G>A (p.Gln30102=) c.90303G>A (p.Gln30101=) c.89736G>A (p.Gln29912=) c.87078G>A (p.Gln29026=) c.86997G>A (p.Gln28999=) c.68760G>A (p.Gln22920=) c.58614G>A (p.Gln19538=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.178544365T>A | CA185359 | TTN,TTN-AS1 | c.88160A>T (p.Gln29387Leu) c.69245A>T (p.Gln23082Leu) c.69044A>T (p.Gln23015Leu) c.68669A>T (p.Gln22890Leu) c.95864A>T (p.Gln31955Leu) c.90941A>T (p.Gln30314Leu) n.446+20729T>A n.2043+2004T>A c.94961A>T (p.Gln31654Leu) c.68855A>T (p.Gln22952Leu) c.68714A>T (p.Gln22905Leu) c.94757A>T (p.Gln31586Leu) c.90155A>T (p.Gln30052Leu) c.90152A>T (p.Gln30051Leu) c.87194A>T (p.Gln29065Leu) c.68810A>T (p.Gln22937Leu) c.90305A>T (p.Gln30102Leu) c.90302A>T (p.Gln30101Leu) c.89735A>T (p.Gln29912Leu) c.87077A>T (p.Gln29026Leu) c.86996A>T (p.Gln28999Leu) c.68759A>T (p.Gln22920Leu) c.58613A>T (p.Gln19538Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178544365T>C | CA349456650 | TTN,TTN-AS1 | c.88160A>G (p.Gln29387Arg) c.69245A>G (p.Gln23082Arg) c.69044A>G (p.Gln23015Arg) c.68669A>G (p.Gln22890Arg) c.95864A>G (p.Gln31955Arg) c.90941A>G (p.Gln30314Arg) n.446+20729T>C n.2043+2004T>C c.94961A>G (p.Gln31654Arg) c.68855A>G (p.Gln22952Arg) c.68714A>G (p.Gln22905Arg) c.94757A>G (p.Gln31586Arg) c.90155A>G (p.Gln30052Arg) c.90152A>G (p.Gln30051Arg) c.87194A>G (p.Gln29065Arg) c.68810A>G (p.Gln22937Arg) c.90305A>G (p.Gln30102Arg) c.90302A>G (p.Gln30101Arg) c.89735A>G (p.Gln29912Arg) c.87077A>G (p.Gln29026Arg) c.86996A>G (p.Gln28999Arg) c.68759A>G (p.Gln22920Arg) c.58613A>G (p.Gln19538Arg) | |
| 2 | g.178544365T>G | CA349456645 | TTN,TTN-AS1 | c.88160A>C (p.Gln29387Pro) c.69245A>C (p.Gln23082Pro) c.69044A>C (p.Gln23015Pro) c.68669A>C (p.Gln22890Pro) c.95864A>C (p.Gln31955Pro) c.90941A>C (p.Gln30314Pro) n.446+20729T>G n.2043+2004T>G c.94961A>C (p.Gln31654Pro) c.68855A>C (p.Gln22952Pro) c.68714A>C (p.Gln22905Pro) c.94757A>C (p.Gln31586Pro) c.90155A>C (p.Gln30052Pro) c.90152A>C (p.Gln30051Pro) c.87194A>C (p.Gln29065Pro) c.68810A>C (p.Gln22937Pro) c.90305A>C (p.Gln30102Pro) c.90302A>C (p.Gln30101Pro) c.89735A>C (p.Gln29912Pro) c.87077A>C (p.Gln29026Pro) c.86996A>C (p.Gln28999Pro) c.68759A>C (p.Gln22920Pro) c.58613A>C (p.Gln19538Pro) | |
| 2 | g.178544365T= | CA1310521548 | TTN,TTN-AS1 | c.88160A= (p.Gln29387=) c.69245A= (p.Gln23082=) c.69044A= (p.Gln23015=) c.68669A= (p.Gln22890=) c.95864A= (p.Gln31955=) c.90941A= (p.Gln30314=) n.446+20729T= n.2043+2004T= c.94961A= (p.Gln31654=) c.68855A= (p.Gln22952=) c.68714A= (p.Gln22905=) c.94757A= (p.Gln31586=) c.90155A= (p.Gln30052=) c.90152A= (p.Gln30051=) c.87194A= (p.Gln29065=) c.68810A= (p.Gln22937=) c.90305A= (p.Gln30102=) c.90302A= (p.Gln30101=) c.89735A= (p.Gln29912=) c.87077A= (p.Gln29026=) c.86996A= (p.Gln28999=) c.68759A= (p.Gln22920=) c.58613A= (p.Gln19538=) | |
| 2 | g.178544366G>A | CA349456669 | TTN,TTN-AS1 | c.88159C>T (p.Gln29387Ter) c.69244C>T (p.Gln23082Ter) c.69043C>T (p.Gln23015Ter) c.68668C>T (p.Gln22890Ter) c.95863C>T (p.Gln31955Ter) c.90940C>T (p.Gln30314Ter) n.446+20730G>A n.2043+2005G>A c.94960C>T (p.Gln31654Ter) c.68854C>T (p.Gln22952Ter) c.68713C>T (p.Gln22905Ter) c.94756C>T (p.Gln31586Ter) c.90154C>T (p.Gln30052Ter) c.90151C>T (p.Gln30051Ter) c.87193C>T (p.Gln29065Ter) c.68809C>T (p.Gln22937Ter) c.90304C>T (p.Gln30102Ter) c.90301C>T (p.Gln30101Ter) c.89734C>T (p.Gln29912Ter) c.87076C>T (p.Gln29026Ter) c.86995C>T (p.Gln28999Ter) c.68758C>T (p.Gln22920Ter) c.58612C>T (p.Gln19538Ter) | |
| 2 | g.178544366G>C | CA349456673 | TTN,TTN-AS1 | c.88159C>G (p.Gln29387Glu) c.69244C>G (p.Gln23082Glu) c.69043C>G (p.Gln23015Glu) c.68668C>G (p.Gln22890Glu) c.95863C>G (p.Gln31955Glu) c.90940C>G (p.Gln30314Glu) n.446+20730G>C n.2043+2005G>C c.94960C>G (p.Gln31654Glu) c.68854C>G (p.Gln22952Glu) c.68713C>G (p.Gln22905Glu) c.94756C>G (p.Gln31586Glu) c.90154C>G (p.Gln30052Glu) c.90151C>G (p.Gln30051Glu) c.87193C>G (p.Gln29065Glu) c.68809C>G (p.Gln22937Glu) c.90304C>G (p.Gln30102Glu) c.90301C>G (p.Gln30101Glu) c.89734C>G (p.Gln29912Glu) c.87076C>G (p.Gln29026Glu) c.86995C>G (p.Gln28999Glu) c.68758C>G (p.Gln22920Glu) c.58612C>G (p.Gln19538Glu) | |
| 2 | g.178544366G>T | CA349456676 | TTN,TTN-AS1 | c.88159C>A (p.Gln29387Lys) c.69244C>A (p.Gln23082Lys) c.69043C>A (p.Gln23015Lys) c.68668C>A (p.Gln22890Lys) c.95863C>A (p.Gln31955Lys) c.90940C>A (p.Gln30314Lys) n.446+20730G>T n.2043+2005G>T c.94960C>A (p.Gln31654Lys) c.68854C>A (p.Gln22952Lys) c.68713C>A (p.Gln22905Lys) c.94756C>A (p.Gln31586Lys) c.90154C>A (p.Gln30052Lys) c.90151C>A (p.Gln30051Lys) c.87193C>A (p.Gln29065Lys) c.68809C>A (p.Gln22937Lys) c.90304C>A (p.Gln30102Lys) c.90301C>A (p.Gln30101Lys) c.89734C>A (p.Gln29912Lys) c.87076C>A (p.Gln29026Lys) c.86995C>A (p.Gln28999Lys) c.68758C>A (p.Gln22920Lys) c.58612C>A (p.Gln19538Lys) | |
| 2 | g.178544367A= | CA1310521550 | TTN,TTN-AS1 | c.88158T= (p.Asp29386=) c.69243T= (p.Asp23081=) c.69042T= (p.Asp23014=) c.68667T= (p.Asp22889=) c.95862T= (p.Asp31954=) c.90939T= (p.Asp30313=) n.446+20731A= n.2043+2006A= c.94959T= (p.Asp31653=) c.68853T= (p.Asp22951=) c.68712T= (p.Asp22904=) c.94755T= (p.Asp31585=) c.90153T= (p.Asp30051=) c.90150T= (p.Asp30050=) c.87192T= (p.Asp29064=) c.68808T= (p.Asp22936=) c.90303T= (p.Asp30101=) c.90300T= (p.Asp30100=) c.89733T= (p.Asp29911=) c.87075T= (p.Asp29025=) c.86994T= (p.Asp28998=) c.68757T= (p.Asp22919=) c.58611T= (p.Asp19537=) | |
| 2 | g.178544367A>C | CA349456685 | TTN,TTN-AS1 | c.88158T>G (p.Asp29386Glu) c.69243T>G (p.Asp23081Glu) c.69042T>G (p.Asp23014Glu) c.68667T>G (p.Asp22889Glu) c.95862T>G (p.Asp31954Glu) c.90939T>G (p.Asp30313Glu) n.446+20731A>C n.2043+2006A>C c.94959T>G (p.Asp31653Glu) c.68853T>G (p.Asp22951Glu) c.68712T>G (p.Asp22904Glu) c.94755T>G (p.Asp31585Glu) c.90153T>G (p.Asp30051Glu) c.90150T>G (p.Asp30050Glu) c.87192T>G (p.Asp29064Glu) c.68808T>G (p.Asp22936Glu) c.90303T>G (p.Asp30101Glu) c.90300T>G (p.Asp30100Glu) c.89733T>G (p.Asp29911Glu) c.87075T>G (p.Asp29025Glu) c.86994T>G (p.Asp28998Glu) c.68757T>G (p.Asp22919Glu) c.58611T>G (p.Asp19537Glu) | |
| 2 | g.178544367A>G | CA430241836 | TTN,TTN-AS1 | c.88158T>C (p.Asp29386=) c.69243T>C (p.Asp23081=) c.69042T>C (p.Asp23014=) c.68667T>C (p.Asp22889=) c.95862T>C (p.Asp31954=) c.90939T>C (p.Asp30313=) n.446+20731A>G n.2043+2006A>G c.94959T>C (p.Asp31653=) c.68853T>C (p.Asp22951=) c.68712T>C (p.Asp22904=) c.94755T>C (p.Asp31585=) c.90153T>C (p.Asp30051=) c.90150T>C (p.Asp30050=) c.87192T>C (p.Asp29064=) c.68808T>C (p.Asp22936=) c.90303T>C (p.Asp30101=) c.90300T>C (p.Asp30100=) c.89733T>C (p.Asp29911=) c.87075T>C (p.Asp29025=) c.86994T>C (p.Asp28998=) c.68757T>C (p.Asp22919=) c.58611T>C (p.Asp19537=) | |
| 2 | g.178544367A>T | CA1986863 | TTN,TTN-AS1 | c.88158T>A (p.Asp29386Glu) c.69243T>A (p.Asp23081Glu) c.69042T>A (p.Asp23014Glu) c.68667T>A (p.Asp22889Glu) c.95862T>A (p.Asp31954Glu) c.90939T>A (p.Asp30313Glu) n.446+20731A>T n.2043+2006A>T c.94959T>A (p.Asp31653Glu) c.68853T>A (p.Asp22951Glu) c.68712T>A (p.Asp22904Glu) c.94755T>A (p.Asp31585Glu) c.90153T>A (p.Asp30051Glu) c.90150T>A (p.Asp30050Glu) c.87192T>A (p.Asp29064Glu) c.68808T>A (p.Asp22936Glu) c.90303T>A (p.Asp30101Glu) c.90300T>A (p.Asp30100Glu) c.89733T>A (p.Asp29911Glu) c.87075T>A (p.Asp29025Glu) c.86994T>A (p.Asp28998Glu) c.68757T>A (p.Asp22919Glu) c.58611T>A (p.Asp19537Glu) | dbSNP ExAC gnomAD v2 |
| 2 | g.178544368T>A | CA349456708 | TTN,TTN-AS1 | c.88157A>T (p.Asp29386Val) c.69242A>T (p.Asp23081Val) c.69041A>T (p.Asp23014Val) c.68666A>T (p.Asp22889Val) c.95861A>T (p.Asp31954Val) c.90938A>T (p.Asp30313Val) n.446+20732T>A n.2043+2007T>A c.94958A>T (p.Asp31653Val) c.68852A>T (p.Asp22951Val) c.68711A>T (p.Asp22904Val) c.94754A>T (p.Asp31585Val) c.90152A>T (p.Asp30051Val) c.90149A>T (p.Asp30050Val) c.87191A>T (p.Asp29064Val) c.68807A>T (p.Asp22936Val) c.90302A>T (p.Asp30101Val) c.90299A>T (p.Asp30100Val) c.89732A>T (p.Asp29911Val) c.87074A>T (p.Asp29025Val) c.86993A>T (p.Asp28998Val) c.68756A>T (p.Asp22919Val) c.58610A>T (p.Asp19537Val) | |
| 2 | g.178544368T>C | CA349456702 | TTN,TTN-AS1 | c.88157A>G (p.Asp29386Gly) c.69242A>G (p.Asp23081Gly) c.69041A>G (p.Asp23014Gly) c.68666A>G (p.Asp22889Gly) c.95861A>G (p.Asp31954Gly) c.90938A>G (p.Asp30313Gly) n.446+20732T>C n.2043+2007T>C c.94958A>G (p.Asp31653Gly) c.68852A>G (p.Asp22951Gly) c.68711A>G (p.Asp22904Gly) c.94754A>G (p.Asp31585Gly) c.90152A>G (p.Asp30051Gly) c.90149A>G (p.Asp30050Gly) c.87191A>G (p.Asp29064Gly) c.68807A>G (p.Asp22936Gly) c.90302A>G (p.Asp30101Gly) c.90299A>G (p.Asp30100Gly) c.89732A>G (p.Asp29911Gly) c.87074A>G (p.Asp29025Gly) c.86993A>G (p.Asp28998Gly) c.68756A>G (p.Asp22919Gly) c.58610A>G (p.Asp19537Gly) | |
| 2 | g.178544368T>G | CA349456689 | TTN,TTN-AS1 | c.88157A>C (p.Asp29386Ala) c.69242A>C (p.Asp23081Ala) c.69041A>C (p.Asp23014Ala) c.68666A>C (p.Asp22889Ala) c.95861A>C (p.Asp31954Ala) c.90938A>C (p.Asp30313Ala) n.446+20732T>G n.2043+2007T>G c.94958A>C (p.Asp31653Ala) c.68852A>C (p.Asp22951Ala) c.68711A>C (p.Asp22904Ala) c.94754A>C (p.Asp31585Ala) c.90152A>C (p.Asp30051Ala) c.90149A>C (p.Asp30050Ala) c.87191A>C (p.Asp29064Ala) c.68807A>C (p.Asp22936Ala) c.90302A>C (p.Asp30101Ala) c.90299A>C (p.Asp30100Ala) c.89732A>C (p.Asp29911Ala) c.87074A>C (p.Asp29025Ala) c.86993A>C (p.Asp28998Ala) c.68756A>C (p.Asp22919Ala) c.58610A>C (p.Asp19537Ala) | |
| 2 | g.178544369C>A | CA349456713 | TTN,TTN-AS1 | c.88156G>T (p.Asp29386Tyr) c.69241G>T (p.Asp23081Tyr) c.69040G>T (p.Asp23014Tyr) c.68665G>T (p.Asp22889Tyr) c.95860G>T (p.Asp31954Tyr) c.90937G>T (p.Asp30313Tyr) n.446+20733C>A n.2043+2008C>A c.94957G>T (p.Asp31653Tyr) c.68851G>T (p.Asp22951Tyr) c.68710G>T (p.Asp22904Tyr) c.94753G>T (p.Asp31585Tyr) c.90151G>T (p.Asp30051Tyr) c.90148G>T (p.Asp30050Tyr) c.87190G>T (p.Asp29064Tyr) c.68806G>T (p.Asp22936Tyr) c.90301G>T (p.Asp30101Tyr) c.90298G>T (p.Asp30100Tyr) c.89731G>T (p.Asp29911Tyr) c.87073G>T (p.Asp29025Tyr) c.86992G>T (p.Asp28998Tyr) c.68755G>T (p.Asp22919Tyr) c.58609G>T (p.Asp19537Tyr) | |
| 2 | g.178544369C>G | CA349456717 | TTN,TTN-AS1 | c.88156G>C (p.Asp29386His) c.69241G>C (p.Asp23081His) c.69040G>C (p.Asp23014His) c.68665G>C (p.Asp22889His) c.95860G>C (p.Asp31954His) c.90937G>C (p.Asp30313His) n.446+20733C>G n.2043+2008C>G c.94957G>C (p.Asp31653His) c.68851G>C (p.Asp22951His) c.68710G>C (p.Asp22904His) c.94753G>C (p.Asp31585His) c.90151G>C (p.Asp30051His) c.90148G>C (p.Asp30050His) c.87190G>C (p.Asp29064His) c.68806G>C (p.Asp22936His) c.90301G>C (p.Asp30101His) c.90298G>C (p.Asp30100His) c.89731G>C (p.Asp29911His) c.87073G>C (p.Asp29025His) c.86992G>C (p.Asp28998His) c.68755G>C (p.Asp22919His) c.58609G>C (p.Asp19537His) | |
| 2 | g.178544369C>T | CA349456719 | TTN,TTN-AS1 | c.88156G>A (p.Asp29386Asn) c.69241G>A (p.Asp23081Asn) c.69040G>A (p.Asp23014Asn) c.68665G>A (p.Asp22889Asn) c.95860G>A (p.Asp31954Asn) c.90937G>A (p.Asp30313Asn) n.446+20733C>T n.2043+2008C>T c.94957G>A (p.Asp31653Asn) c.68851G>A (p.Asp22951Asn) c.68710G>A (p.Asp22904Asn) c.94753G>A (p.Asp31585Asn) c.90151G>A (p.Asp30051Asn) c.90148G>A (p.Asp30050Asn) c.87190G>A (p.Asp29064Asn) c.68806G>A (p.Asp22936Asn) c.90301G>A (p.Asp30101Asn) c.90298G>A (p.Asp30100Asn) c.89731G>A (p.Asp29911Asn) c.87073G>A (p.Asp29025Asn) c.86992G>A (p.Asp28998Asn) c.68755G>A (p.Asp22919Asn) c.58609G>A (p.Asp19537Asn) | |
| 2 | g.178544370A= | CA1310521552 | TTN,TTN-AS1 | c.88155T= (p.Thr29385=) c.69240T= (p.Thr23080=) c.69039T= (p.Thr23013=) c.68664T= (p.Thr22888=) c.95859T= (p.Thr31953=) c.90936T= (p.Thr30312=) n.446+20734A= n.2043+2009A= c.94956T= (p.Thr31652=) c.68850T= (p.Thr22950=) c.68709T= (p.Thr22903=) c.94752T= (p.Thr31584=) c.90150T= (p.Thr30050=) c.90147T= (p.Thr30049=) c.87189T= (p.Thr29063=) c.68805T= (p.Thr22935=) c.90300T= (p.Thr30100=) c.90297T= (p.Thr30099=) c.89730T= (p.Thr29910=) c.87072T= (p.Thr29024=) c.86991T= (p.Thr28997=) c.68754T= (p.Thr22918=) c.58608T= (p.Thr19536=) | |
| 2 | g.178544370A>C | CA430241840 | TTN,TTN-AS1 | c.88155T>G (p.Thr29385=) c.69240T>G (p.Thr23080=) c.69039T>G (p.Thr23013=) c.68664T>G (p.Thr22888=) c.95859T>G (p.Thr31953=) c.90936T>G (p.Thr30312=) n.446+20734A>C n.2043+2009A>C c.94956T>G (p.Thr31652=) c.68850T>G (p.Thr22950=) c.68709T>G (p.Thr22903=) c.94752T>G (p.Thr31584=) c.90150T>G (p.Thr30050=) c.90147T>G (p.Thr30049=) c.87189T>G (p.Thr29063=) c.68805T>G (p.Thr22935=) c.90300T>G (p.Thr30100=) c.90297T>G (p.Thr30099=) c.89730T>G (p.Thr29910=) c.87072T>G (p.Thr29024=) c.86991T>G (p.Thr28997=) c.68754T>G (p.Thr22918=) c.58608T>G (p.Thr19536=) |