| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178584470T>A | CA349435402 | TTN,TTN-AS1 | c.57377A>T (p.Tyr19126Phe) c.38462A>T (p.Tyr12821Phe) c.38261A>T (p.Tyr12754Phe) c.37886A>T (p.Tyr12629Phe) c.65081A>T (p.Tyr21694Phe) c.60158A>T (p.Tyr20053Phe) n.596+13021T>A n.2768-103T>A c.64178A>T (p.Tyr21393Phe) c.38072A>T (p.Tyr12691Phe) c.37931A>T (p.Tyr12644Phe) c.63974A>T (p.Tyr21325Phe) c.59372A>T (p.Tyr19791Phe) c.59369A>T (p.Tyr19790Phe) c.56411A>T (p.Tyr18804Phe) c.38027A>T (p.Tyr12676Phe) c.59522A>T (p.Tyr19841Phe) c.59519A>T (p.Tyr19840Phe) c.58952A>T (p.Tyr19651Phe) c.56294A>T (p.Tyr18765Phe) c.56213A>T (p.Tyr18738Phe) c.37976A>T (p.Tyr12659Phe) c.27830A>T (p.Tyr9277Phe) | |
| 2 | g.178584470T>C | CA349435403 | TTN,TTN-AS1 | c.57377A>G (p.Tyr19126Cys) c.38462A>G (p.Tyr12821Cys) c.38261A>G (p.Tyr12754Cys) c.37886A>G (p.Tyr12629Cys) c.65081A>G (p.Tyr21694Cys) c.60158A>G (p.Tyr20053Cys) n.596+13021T>C n.2768-103T>C c.64178A>G (p.Tyr21393Cys) c.38072A>G (p.Tyr12691Cys) c.37931A>G (p.Tyr12644Cys) c.63974A>G (p.Tyr21325Cys) c.59372A>G (p.Tyr19791Cys) c.59369A>G (p.Tyr19790Cys) c.56411A>G (p.Tyr18804Cys) c.38027A>G (p.Tyr12676Cys) c.59522A>G (p.Tyr19841Cys) c.59519A>G (p.Tyr19840Cys) c.58952A>G (p.Tyr19651Cys) c.56294A>G (p.Tyr18765Cys) c.56213A>G (p.Tyr18738Cys) c.37976A>G (p.Tyr12659Cys) c.27830A>G (p.Tyr9277Cys) | |
| 2 | g.178584470T>G | CA349435405 | TTN,TTN-AS1 | c.57377A>C (p.Tyr19126Ser) c.38462A>C (p.Tyr12821Ser) c.38261A>C (p.Tyr12754Ser) c.37886A>C (p.Tyr12629Ser) c.65081A>C (p.Tyr21694Ser) c.60158A>C (p.Tyr20053Ser) n.596+13021T>G n.2768-103T>G c.64178A>C (p.Tyr21393Ser) c.38072A>C (p.Tyr12691Ser) c.37931A>C (p.Tyr12644Ser) c.63974A>C (p.Tyr21325Ser) c.59372A>C (p.Tyr19791Ser) c.59369A>C (p.Tyr19790Ser) c.56411A>C (p.Tyr18804Ser) c.38027A>C (p.Tyr12676Ser) c.59522A>C (p.Tyr19841Ser) c.59519A>C (p.Tyr19840Ser) c.58952A>C (p.Tyr19651Ser) c.56294A>C (p.Tyr18765Ser) c.56213A>C (p.Tyr18738Ser) c.37976A>C (p.Tyr12659Ser) c.27830A>C (p.Tyr9277Ser) | |
| 2 | g.178584471A= | CA1310537028 | TTN,TTN-AS1 | c.57376T= (p.Tyr19126=) c.38461T= (p.Tyr12821=) c.38260T= (p.Tyr12754=) c.37885T= (p.Tyr12629=) c.65080T= (p.Tyr21694=) c.60157T= (p.Tyr20053=) n.596+13022A= n.2768-102A= c.64177T= (p.Tyr21393=) c.38071T= (p.Tyr12691=) c.37930T= (p.Tyr12644=) c.63973T= (p.Tyr21325=) c.59371T= (p.Tyr19791=) c.59368T= (p.Tyr19790=) c.56410T= (p.Tyr18804=) c.38026T= (p.Tyr12676=) c.59521T= (p.Tyr19841=) c.59518T= (p.Tyr19840=) c.58951T= (p.Tyr19651=) c.56293T= (p.Tyr18765=) c.56212T= (p.Tyr18738=) c.37975T= (p.Tyr12659=) c.27829T= (p.Tyr9277=) | |
| 2 | g.178584471A>C | CA349435408 | TTN,TTN-AS1 | c.57376T>G (p.Tyr19126Asp) c.38461T>G (p.Tyr12821Asp) c.38260T>G (p.Tyr12754Asp) c.37885T>G (p.Tyr12629Asp) c.65080T>G (p.Tyr21694Asp) c.60157T>G (p.Tyr20053Asp) n.596+13022A>C n.2768-102A>C c.64177T>G (p.Tyr21393Asp) c.38071T>G (p.Tyr12691Asp) c.37930T>G (p.Tyr12644Asp) c.63973T>G (p.Tyr21325Asp) c.59371T>G (p.Tyr19791Asp) c.59368T>G (p.Tyr19790Asp) c.56410T>G (p.Tyr18804Asp) c.38026T>G (p.Tyr12676Asp) c.59521T>G (p.Tyr19841Asp) c.59518T>G (p.Tyr19840Asp) c.58951T>G (p.Tyr19651Asp) c.56293T>G (p.Tyr18765Asp) c.56212T>G (p.Tyr18738Asp) c.37975T>G (p.Tyr12659Asp) c.27829T>G (p.Tyr9277Asp) | |
| 2 | g.178584471A>G | CA1991784 | TTN,TTN-AS1 | c.57376T>C (p.Tyr19126His) c.38461T>C (p.Tyr12821His) c.38260T>C (p.Tyr12754His) c.37885T>C (p.Tyr12629His) c.65080T>C (p.Tyr21694His) c.60157T>C (p.Tyr20053His) n.596+13022A>G n.2768-102A>G c.64177T>C (p.Tyr21393His) c.38071T>C (p.Tyr12691His) c.37930T>C (p.Tyr12644His) c.63973T>C (p.Tyr21325His) c.59371T>C (p.Tyr19791His) c.59368T>C (p.Tyr19790His) c.56410T>C (p.Tyr18804His) c.38026T>C (p.Tyr12676His) c.59521T>C (p.Tyr19841His) c.59518T>C (p.Tyr19840His) c.58951T>C (p.Tyr19651His) c.56293T>C (p.Tyr18765His) c.56212T>C (p.Tyr18738His) c.37975T>C (p.Tyr12659His) c.27829T>C (p.Tyr9277His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178584471A>T | CA349435410 | TTN,TTN-AS1 | c.57376T>A (p.Tyr19126Asn) c.38461T>A (p.Tyr12821Asn) c.38260T>A (p.Tyr12754Asn) c.37885T>A (p.Tyr12629Asn) c.65080T>A (p.Tyr21694Asn) c.60157T>A (p.Tyr20053Asn) n.596+13022A>T n.2768-102A>T c.64177T>A (p.Tyr21393Asn) c.38071T>A (p.Tyr12691Asn) c.37930T>A (p.Tyr12644Asn) c.63973T>A (p.Tyr21325Asn) c.59371T>A (p.Tyr19791Asn) c.59368T>A (p.Tyr19790Asn) c.56410T>A (p.Tyr18804Asn) c.38026T>A (p.Tyr12676Asn) c.59521T>A (p.Tyr19841Asn) c.59518T>A (p.Tyr19840Asn) c.58951T>A (p.Tyr19651Asn) c.56293T>A (p.Tyr18765Asn) c.56212T>A (p.Tyr18738Asn) c.37975T>A (p.Tyr12659Asn) c.27829T>A (p.Tyr9277Asn) | |
| 2 | g.178584472A>C | CA430263229 | TTN,TTN-AS1 | c.57375T>G (p.Gly19125=) c.38460T>G (p.Gly12820=) c.38259T>G (p.Gly12753=) c.37884T>G (p.Gly12628=) c.65079T>G (p.Gly21693=) c.60156T>G (p.Gly20052=) n.596+13023A>C n.2768-101A>C c.64176T>G (p.Gly21392=) c.38070T>G (p.Gly12690=) c.37929T>G (p.Gly12643=) c.63972T>G (p.Gly21324=) c.59370T>G (p.Gly19790=) c.59367T>G (p.Gly19789=) c.56409T>G (p.Gly18803=) c.38025T>G (p.Gly12675=) c.59520T>G (p.Gly19840=) c.59517T>G (p.Gly19839=) c.58950T>G (p.Gly19650=) c.56292T>G (p.Gly18764=) c.56211T>G (p.Gly18737=) c.37974T>G (p.Gly12658=) c.27828T>G (p.Gly9276=) | |
| 2 | g.178584472A>G | CA430263231 | TTN,TTN-AS1 | c.57375T>C (p.Gly19125=) c.38460T>C (p.Gly12820=) c.38259T>C (p.Gly12753=) c.37884T>C (p.Gly12628=) c.65079T>C (p.Gly21693=) c.60156T>C (p.Gly20052=) n.596+13023A>G n.2768-101A>G c.64176T>C (p.Gly21392=) c.38070T>C (p.Gly12690=) c.37929T>C (p.Gly12643=) c.63972T>C (p.Gly21324=) c.59370T>C (p.Gly19790=) c.59367T>C (p.Gly19789=) c.56409T>C (p.Gly18803=) c.38025T>C (p.Gly12675=) c.59520T>C (p.Gly19840=) c.59517T>C (p.Gly19839=) c.58950T>C (p.Gly19650=) c.56292T>C (p.Gly18764=) c.56211T>C (p.Gly18737=) c.37974T>C (p.Gly12658=) c.27828T>C (p.Gly9276=) | |
| 2 | g.178584472A>T | CA430263230 | TTN,TTN-AS1 | c.57375T>A (p.Gly19125=) c.38460T>A (p.Gly12820=) c.38259T>A (p.Gly12753=) c.37884T>A (p.Gly12628=) c.65079T>A (p.Gly21693=) c.60156T>A (p.Gly20052=) n.596+13023A>T n.2768-101A>T c.64176T>A (p.Gly21392=) c.38070T>A (p.Gly12690=) c.37929T>A (p.Gly12643=) c.63972T>A (p.Gly21324=) c.59370T>A (p.Gly19790=) c.59367T>A (p.Gly19789=) c.56409T>A (p.Gly18803=) c.38025T>A (p.Gly12675=) c.59520T>A (p.Gly19840=) c.59517T>A (p.Gly19839=) c.58950T>A (p.Gly19650=) c.56292T>A (p.Gly18764=) c.56211T>A (p.Gly18737=) c.37974T>A (p.Gly12658=) c.27828T>A (p.Gly9276=) | |
| 2 | g.178584473C>A | CA349435412 | TTN,TTN-AS1 | c.57374G>T (p.Gly19125Val) c.38459G>T (p.Gly12820Val) c.38258G>T (p.Gly12753Val) c.37883G>T (p.Gly12628Val) c.65078G>T (p.Gly21693Val) c.60155G>T (p.Gly20052Val) n.596+13024C>A n.2768-100C>A c.64175G>T (p.Gly21392Val) c.38069G>T (p.Gly12690Val) c.37928G>T (p.Gly12643Val) c.63971G>T (p.Gly21324Val) c.59369G>T (p.Gly19790Val) c.59366G>T (p.Gly19789Val) c.56408G>T (p.Gly18803Val) c.38024G>T (p.Gly12675Val) c.59519G>T (p.Gly19840Val) c.59516G>T (p.Gly19839Val) c.58949G>T (p.Gly19650Val) c.56291G>T (p.Gly18764Val) c.56210G>T (p.Gly18737Val) c.37973G>T (p.Gly12658Val) c.27827G>T (p.Gly9276Val) | |
| 2 | g.178584473C>G | CA349435414 | TTN,TTN-AS1 | c.57374G>C (p.Gly19125Ala) c.38459G>C (p.Gly12820Ala) c.38258G>C (p.Gly12753Ala) c.37883G>C (p.Gly12628Ala) c.65078G>C (p.Gly21693Ala) c.60155G>C (p.Gly20052Ala) n.596+13024C>G n.2768-100C>G c.64175G>C (p.Gly21392Ala) c.38069G>C (p.Gly12690Ala) c.37928G>C (p.Gly12643Ala) c.63971G>C (p.Gly21324Ala) c.59369G>C (p.Gly19790Ala) c.59366G>C (p.Gly19789Ala) c.56408G>C (p.Gly18803Ala) c.38024G>C (p.Gly12675Ala) c.59519G>C (p.Gly19840Ala) c.59516G>C (p.Gly19839Ala) c.58949G>C (p.Gly19650Ala) c.56291G>C (p.Gly18764Ala) c.56210G>C (p.Gly18737Ala) c.37973G>C (p.Gly12658Ala) c.27827G>C (p.Gly9276Ala) | |
| 2 | g.178584473C>T | CA349435416 | TTN,TTN-AS1 | c.57374G>A (p.Gly19125Asp) c.38459G>A (p.Gly12820Asp) c.38258G>A (p.Gly12753Asp) c.37883G>A (p.Gly12628Asp) c.65078G>A (p.Gly21693Asp) c.60155G>A (p.Gly20052Asp) n.596+13024C>T n.2768-100C>T c.64175G>A (p.Gly21392Asp) c.38069G>A (p.Gly12690Asp) c.37928G>A (p.Gly12643Asp) c.63971G>A (p.Gly21324Asp) c.59369G>A (p.Gly19790Asp) c.59366G>A (p.Gly19789Asp) c.56408G>A (p.Gly18803Asp) c.38024G>A (p.Gly12675Asp) c.59519G>A (p.Gly19840Asp) c.59516G>A (p.Gly19839Asp) c.58949G>A (p.Gly19650Asp) c.56291G>A (p.Gly18764Asp) c.56210G>A (p.Gly18737Asp) c.37973G>A (p.Gly12658Asp) c.27827G>A (p.Gly9276Asp) | gnomAD v4 |
| 2 | g.178584474C>A | CA349435433 | TTN,TTN-AS1 | c.57373G>T (p.Gly19125Cys) c.38458G>T (p.Gly12820Cys) c.38257G>T (p.Gly12753Cys) c.37882G>T (p.Gly12628Cys) c.65077G>T (p.Gly21693Cys) c.60154G>T (p.Gly20052Cys) n.596+13025C>A n.2768-99C>A c.64174G>T (p.Gly21392Cys) c.38068G>T (p.Gly12690Cys) c.37927G>T (p.Gly12643Cys) c.63970G>T (p.Gly21324Cys) c.59368G>T (p.Gly19790Cys) c.59365G>T (p.Gly19789Cys) c.56407G>T (p.Gly18803Cys) c.38023G>T (p.Gly12675Cys) c.59518G>T (p.Gly19840Cys) c.59515G>T (p.Gly19839Cys) c.58948G>T (p.Gly19650Cys) c.56290G>T (p.Gly18764Cys) c.56209G>T (p.Gly18737Cys) c.37972G>T (p.Gly12658Cys) c.27826G>T (p.Gly9276Cys) | |
| 2 | g.178584474C>G | CA349435431 | TTN,TTN-AS1 | c.57373G>C (p.Gly19125Arg) c.38458G>C (p.Gly12820Arg) c.38257G>C (p.Gly12753Arg) c.37882G>C (p.Gly12628Arg) c.65077G>C (p.Gly21693Arg) c.60154G>C (p.Gly20052Arg) n.596+13025C>G n.2768-99C>G c.64174G>C (p.Gly21392Arg) c.38068G>C (p.Gly12690Arg) c.37927G>C (p.Gly12643Arg) c.63970G>C (p.Gly21324Arg) c.59368G>C (p.Gly19790Arg) c.59365G>C (p.Gly19789Arg) c.56407G>C (p.Gly18803Arg) c.38023G>C (p.Gly12675Arg) c.59518G>C (p.Gly19840Arg) c.59515G>C (p.Gly19839Arg) c.58948G>C (p.Gly19650Arg) c.56290G>C (p.Gly18764Arg) c.56209G>C (p.Gly18737Arg) c.37972G>C (p.Gly12658Arg) c.27826G>C (p.Gly9276Arg) | |
| 2 | g.178584474C>T | CA349435429 | TTN,TTN-AS1 | c.57373G>A (p.Gly19125Ser) c.38458G>A (p.Gly12820Ser) c.38257G>A (p.Gly12753Ser) c.37882G>A (p.Gly12628Ser) c.65077G>A (p.Gly21693Ser) c.60154G>A (p.Gly20052Ser) n.596+13025C>T n.2768-99C>T c.64174G>A (p.Gly21392Ser) c.38068G>A (p.Gly12690Ser) c.37927G>A (p.Gly12643Ser) c.63970G>A (p.Gly21324Ser) c.59368G>A (p.Gly19790Ser) c.59365G>A (p.Gly19789Ser) c.56407G>A (p.Gly18803Ser) c.38023G>A (p.Gly12675Ser) c.59518G>A (p.Gly19840Ser) c.59515G>A (p.Gly19839Ser) c.58948G>A (p.Gly19650Ser) c.56290G>A (p.Gly18764Ser) c.56209G>A (p.Gly18737Ser) c.37972G>A (p.Gly12658Ser) c.27826G>A (p.Gly9276Ser) | |
| 2 | g.178584475A= | CA1310537029 | TTN,TTN-AS1 | c.57372T= (p.Ile19124=) c.38457T= (p.Ile12819=) c.38256T= (p.Ile12752=) c.37881T= (p.Ile12627=) c.65076T= (p.Ile21692=) c.60153T= (p.Ile20051=) n.596+13026A= n.2768-98A= c.64173T= (p.Ile21391=) c.38067T= (p.Ile12689=) c.37926T= (p.Ile12642=) c.63969T= (p.Ile21323=) c.59367T= (p.Ile19789=) c.59364T= (p.Ile19788=) c.56406T= (p.Ile18802=) c.38022T= (p.Ile12674=) c.59517T= (p.Ile19839=) c.59514T= (p.Ile19838=) c.58947T= (p.Ile19649=) c.56289T= (p.Ile18763=) c.56208T= (p.Ile18736=) c.37971T= (p.Ile12657=) c.27825T= (p.Ile9275=) | |
| 2 | g.178584475A>C | CA349435438 | TTN,TTN-AS1 | c.57372T>G (p.Ile19124Met) c.38457T>G (p.Ile12819Met) c.38256T>G (p.Ile12752Met) c.37881T>G (p.Ile12627Met) c.65076T>G (p.Ile21692Met) c.60153T>G (p.Ile20051Met) n.596+13026A>C n.2768-98A>C c.64173T>G (p.Ile21391Met) c.38067T>G (p.Ile12689Met) c.37926T>G (p.Ile12642Met) c.63969T>G (p.Ile21323Met) c.59367T>G (p.Ile19789Met) c.59364T>G (p.Ile19788Met) c.56406T>G (p.Ile18802Met) c.38022T>G (p.Ile12674Met) c.59517T>G (p.Ile19839Met) c.59514T>G (p.Ile19838Met) c.58947T>G (p.Ile19649Met) c.56289T>G (p.Ile18763Met) c.56208T>G (p.Ile18736Met) c.37971T>G (p.Ile12657Met) c.27825T>G (p.Ile9275Met) | dbSNP |
| 2 | g.178584475A>G | CA430263233 | TTN,TTN-AS1 | c.57372T>C (p.Ile19124=) c.38457T>C (p.Ile12819=) c.38256T>C (p.Ile12752=) c.37881T>C (p.Ile12627=) c.65076T>C (p.Ile21692=) c.60153T>C (p.Ile20051=) n.596+13026A>G n.2768-98A>G c.64173T>C (p.Ile21391=) c.38067T>C (p.Ile12689=) c.37926T>C (p.Ile12642=) c.63969T>C (p.Ile21323=) c.59367T>C (p.Ile19789=) c.59364T>C (p.Ile19788=) c.56406T>C (p.Ile18802=) c.38022T>C (p.Ile12674=) c.59517T>C (p.Ile19839=) c.59514T>C (p.Ile19838=) c.58947T>C (p.Ile19649=) c.56289T>C (p.Ile18763=) c.56208T>C (p.Ile18736=) c.37971T>C (p.Ile12657=) c.27825T>C (p.Ile9275=) | |
| 2 | g.178584475A>T | CA430263234 | TTN,TTN-AS1 | c.57372T>A (p.Ile19124=) c.38457T>A (p.Ile12819=) c.38256T>A (p.Ile12752=) c.37881T>A (p.Ile12627=) c.65076T>A (p.Ile21692=) c.60153T>A (p.Ile20051=) n.596+13026A>T n.2768-98A>T c.64173T>A (p.Ile21391=) c.38067T>A (p.Ile12689=) c.37926T>A (p.Ile12642=) c.63969T>A (p.Ile21323=) c.59367T>A (p.Ile19789=) c.59364T>A (p.Ile19788=) c.56406T>A (p.Ile18802=) c.38022T>A (p.Ile12674=) c.59517T>A (p.Ile19839=) c.59514T>A (p.Ile19838=) c.58947T>A (p.Ile19649=) c.56289T>A (p.Ile18763=) c.56208T>A (p.Ile18736=) c.37971T>A (p.Ile12657=) c.27825T>A (p.Ile9275=) | |
| 2 | g.178584478_178584480del | CA2577170668 | TTN,TTN-AS1 | c.57370_57372del (p.Ile19124del) c.38455_38457del (p.Ile12819del) c.38254_38256del (p.Ile12752del) c.37879_37881del (p.Ile12627del) c.65074_65076del (p.Ile21692del) c.60151_60153del (p.Ile20051del) n.596+13029_596+13031del n.2768-95_2768-93del c.64171_64173del (p.Ile21391del) c.38065_38067del (p.Ile12689del) c.37924_37926del (p.Ile12642del) c.63967_63969del (p.Ile21323del) c.59365_59367del (p.Ile19789del) c.59362_59364del (p.Ile19788del) c.56404_56406del (p.Ile18802del) c.38020_38022del (p.Ile12674del) c.59515_59517del (p.Ile19839del) c.59512_59514del (p.Ile19838del) c.58945_58947del (p.Ile19649del) c.56287_56289del (p.Ile18763del) c.56206_56208del (p.Ile18736del) c.37969_37971del (p.Ile12657del) c.27823_27825del (p.Ile9275del) | |
| 2 | g.178584476A>C | CA349435441 | TTN,TTN-AS1 | c.57371T>G (p.Ile19124Ser) c.38456T>G (p.Ile12819Ser) c.38255T>G (p.Ile12752Ser) c.37880T>G (p.Ile12627Ser) c.65075T>G (p.Ile21692Ser) c.60152T>G (p.Ile20051Ser) n.596+13027A>C n.2768-97A>C c.64172T>G (p.Ile21391Ser) c.38066T>G (p.Ile12689Ser) c.37925T>G (p.Ile12642Ser) c.63968T>G (p.Ile21323Ser) c.59366T>G (p.Ile19789Ser) c.59363T>G (p.Ile19788Ser) c.56405T>G (p.Ile18802Ser) c.38021T>G (p.Ile12674Ser) c.59516T>G (p.Ile19839Ser) c.59513T>G (p.Ile19838Ser) c.58946T>G (p.Ile19649Ser) c.56288T>G (p.Ile18763Ser) c.56207T>G (p.Ile18736Ser) c.37970T>G (p.Ile12657Ser) c.27824T>G (p.Ile9275Ser) | |
| 2 | g.178584476A>G | CA349435442 | TTN,TTN-AS1 | c.57371T>C (p.Ile19124Thr) c.38456T>C (p.Ile12819Thr) c.38255T>C (p.Ile12752Thr) c.37880T>C (p.Ile12627Thr) c.65075T>C (p.Ile21692Thr) c.60152T>C (p.Ile20051Thr) n.596+13027A>G n.2768-97A>G c.64172T>C (p.Ile21391Thr) c.38066T>C (p.Ile12689Thr) c.37925T>C (p.Ile12642Thr) c.63968T>C (p.Ile21323Thr) c.59366T>C (p.Ile19789Thr) c.59363T>C (p.Ile19788Thr) c.56405T>C (p.Ile18802Thr) c.38021T>C (p.Ile12674Thr) c.59516T>C (p.Ile19839Thr) c.59513T>C (p.Ile19838Thr) c.58946T>C (p.Ile19649Thr) c.56288T>C (p.Ile18763Thr) c.56207T>C (p.Ile18736Thr) c.37970T>C (p.Ile12657Thr) c.27824T>C (p.Ile9275Thr) | |
| 2 | g.178584476A>T | CA349435444 | TTN,TTN-AS1 | c.57371T>A (p.Ile19124Asn) c.38456T>A (p.Ile12819Asn) c.38255T>A (p.Ile12752Asn) c.37880T>A (p.Ile12627Asn) c.65075T>A (p.Ile21692Asn) c.60152T>A (p.Ile20051Asn) n.596+13027A>T n.2768-97A>T c.64172T>A (p.Ile21391Asn) c.38066T>A (p.Ile12689Asn) c.37925T>A (p.Ile12642Asn) c.63968T>A (p.Ile21323Asn) c.59366T>A (p.Ile19789Asn) c.59363T>A (p.Ile19788Asn) c.56405T>A (p.Ile18802Asn) c.38021T>A (p.Ile12674Asn) c.59516T>A (p.Ile19839Asn) c.59513T>A (p.Ile19838Asn) c.58946T>A (p.Ile19649Asn) c.56288T>A (p.Ile18763Asn) c.56207T>A (p.Ile18736Asn) c.37970T>A (p.Ile12657Asn) c.27824T>A (p.Ile9275Asn) | |
| 2 | g.178584477T>A | CA349435447 | TTN,TTN-AS1 | c.57370A>T (p.Ile19124Phe) c.38455A>T (p.Ile12819Phe) c.38254A>T (p.Ile12752Phe) c.37879A>T (p.Ile12627Phe) c.65074A>T (p.Ile21692Phe) c.60151A>T (p.Ile20051Phe) n.596+13028T>A n.2768-96T>A c.64171A>T (p.Ile21391Phe) c.38065A>T (p.Ile12689Phe) c.37924A>T (p.Ile12642Phe) c.63967A>T (p.Ile21323Phe) c.59365A>T (p.Ile19789Phe) c.59362A>T (p.Ile19788Phe) c.56404A>T (p.Ile18802Phe) c.38020A>T (p.Ile12674Phe) c.59515A>T (p.Ile19839Phe) c.59512A>T (p.Ile19838Phe) c.58945A>T (p.Ile19649Phe) c.56287A>T (p.Ile18763Phe) c.56206A>T (p.Ile18736Phe) c.37969A>T (p.Ile12657Phe) c.27823A>T (p.Ile9275Phe) | |
| 2 | g.178584477T>C | CA1991785 | TTN,TTN-AS1 | c.57370A>G (p.Ile19124Val) c.38455A>G (p.Ile12819Val) c.38254A>G (p.Ile12752Val) c.37879A>G (p.Ile12627Val) c.65074A>G (p.Ile21692Val) c.60151A>G (p.Ile20051Val) n.596+13028T>C n.2768-96T>C c.64171A>G (p.Ile21391Val) c.38065A>G (p.Ile12689Val) c.37924A>G (p.Ile12642Val) c.63967A>G (p.Ile21323Val) c.59365A>G (p.Ile19789Val) c.59362A>G (p.Ile19788Val) c.56404A>G (p.Ile18802Val) c.38020A>G (p.Ile12674Val) c.59515A>G (p.Ile19839Val) c.59512A>G (p.Ile19838Val) c.58945A>G (p.Ile19649Val) c.56287A>G (p.Ile18763Val) c.56206A>G (p.Ile18736Val) c.37969A>G (p.Ile12657Val) c.27823A>G (p.Ile9275Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178584477T>G | CA349435451 | TTN,TTN-AS1 | c.57370A>C (p.Ile19124Leu) c.38455A>C (p.Ile12819Leu) c.38254A>C (p.Ile12752Leu) c.37879A>C (p.Ile12627Leu) c.65074A>C (p.Ile21692Leu) c.60151A>C (p.Ile20051Leu) n.596+13028T>G n.2768-96T>G c.64171A>C (p.Ile21391Leu) c.38065A>C (p.Ile12689Leu) c.37924A>C (p.Ile12642Leu) c.63967A>C (p.Ile21323Leu) c.59365A>C (p.Ile19789Leu) c.59362A>C (p.Ile19788Leu) c.56404A>C (p.Ile18802Leu) c.38020A>C (p.Ile12674Leu) c.59515A>C (p.Ile19839Leu) c.59512A>C (p.Ile19838Leu) c.58945A>C (p.Ile19649Leu) c.56287A>C (p.Ile18763Leu) c.56206A>C (p.Ile18736Leu) c.37969A>C (p.Ile12657Leu) c.27823A>C (p.Ile9275Leu) | |
| 2 | g.178584477T= | CA1310537030 | TTN,TTN-AS1 | c.57370A= (p.Ile19124=) c.38455A= (p.Ile12819=) c.38254A= (p.Ile12752=) c.37879A= (p.Ile12627=) c.65074A= (p.Ile21692=) c.60151A= (p.Ile20051=) n.596+13028T= n.2768-96T= c.64171A= (p.Ile21391=) c.38065A= (p.Ile12689=) c.37924A= (p.Ile12642=) c.63967A= (p.Ile21323=) c.59365A= (p.Ile19789=) c.59362A= (p.Ile19788=) c.56404A= (p.Ile18802=) c.38020A= (p.Ile12674=) c.59515A= (p.Ile19839=) c.59512A= (p.Ile19838=) c.58945A= (p.Ile19649=) c.56287A= (p.Ile18763=) c.56206A= (p.Ile18736=) c.37969A= (p.Ile12657=) c.27823A= (p.Ile9275=) | |
| 2 | g.178584478A>C | CA349435453 | TTN,TTN-AS1 | c.57369T>G (p.Ile19123Met) c.38454T>G (p.Ile12818Met) c.38253T>G (p.Ile12751Met) c.37878T>G (p.Ile12626Met) c.65073T>G (p.Ile21691Met) c.60150T>G (p.Ile20050Met) n.596+13029A>C n.2768-95A>C c.64170T>G (p.Ile21390Met) c.38064T>G (p.Ile12688Met) c.37923T>G (p.Ile12641Met) c.63966T>G (p.Ile21322Met) c.59364T>G (p.Ile19788Met) c.59361T>G (p.Ile19787Met) c.56403T>G (p.Ile18801Met) c.38019T>G (p.Ile12673Met) c.59514T>G (p.Ile19838Met) c.59511T>G (p.Ile19837Met) c.58944T>G (p.Ile19648Met) c.56286T>G (p.Ile18762Met) c.56205T>G (p.Ile18735Met) c.37968T>G (p.Ile12656Met) c.27822T>G (p.Ile9274Met) | |
| 2 | g.178584478A>G | CA430263237 | TTN,TTN-AS1 | c.57369T>C (p.Ile19123=) c.38454T>C (p.Ile12818=) c.38253T>C (p.Ile12751=) c.37878T>C (p.Ile12626=) c.65073T>C (p.Ile21691=) c.60150T>C (p.Ile20050=) n.596+13029A>G n.2768-95A>G c.64170T>C (p.Ile21390=) c.38064T>C (p.Ile12688=) c.37923T>C (p.Ile12641=) c.63966T>C (p.Ile21322=) c.59364T>C (p.Ile19788=) c.59361T>C (p.Ile19787=) c.56403T>C (p.Ile18801=) c.38019T>C (p.Ile12673=) c.59514T>C (p.Ile19838=) c.59511T>C (p.Ile19837=) c.58944T>C (p.Ile19648=) c.56286T>C (p.Ile18762=) c.56205T>C (p.Ile18735=) c.37968T>C (p.Ile12656=) c.27822T>C (p.Ile9274=) | |
| 2 | g.178584478A>T | CA430263238 | TTN,TTN-AS1 | c.57369T>A (p.Ile19123=) c.38454T>A (p.Ile12818=) c.38253T>A (p.Ile12751=) c.37878T>A (p.Ile12626=) c.65073T>A (p.Ile21691=) c.60150T>A (p.Ile20050=) n.596+13029A>T n.2768-95A>T c.64170T>A (p.Ile21390=) c.38064T>A (p.Ile12688=) c.37923T>A (p.Ile12641=) c.63966T>A (p.Ile21322=) c.59364T>A (p.Ile19788=) c.59361T>A (p.Ile19787=) c.56403T>A (p.Ile18801=) c.38019T>A (p.Ile12673=) c.59514T>A (p.Ile19838=) c.59511T>A (p.Ile19837=) c.58944T>A (p.Ile19648=) c.56286T>A (p.Ile18762=) c.56205T>A (p.Ile18735=) c.37968T>A (p.Ile12656=) c.27822T>A (p.Ile9274=) | |
| 2 | g.178584479A= | CA1310537031 | TTN,TTN-AS1 | c.57368T= (p.Ile19123=) c.38453T= (p.Ile12818=) c.38252T= (p.Ile12751=) c.37877T= (p.Ile12626=) c.65072T= (p.Ile21691=) c.60149T= (p.Ile20050=) n.596+13030A= n.2768-94A= c.64169T= (p.Ile21390=) c.38063T= (p.Ile12688=) c.37922T= (p.Ile12641=) c.63965T= (p.Ile21322=) c.59363T= (p.Ile19788=) c.59360T= (p.Ile19787=) c.56402T= (p.Ile18801=) c.38018T= (p.Ile12673=) c.59513T= (p.Ile19838=) c.59510T= (p.Ile19837=) c.58943T= (p.Ile19648=) c.56285T= (p.Ile18762=) c.56204T= (p.Ile18735=) c.37967T= (p.Ile12656=) c.27821T= (p.Ile9274=) | |
| 2 | g.178584479A>C | CA349435456 | TTN,TTN-AS1 | c.57368T>G (p.Ile19123Ser) c.38453T>G (p.Ile12818Ser) c.38252T>G (p.Ile12751Ser) c.37877T>G (p.Ile12626Ser) c.65072T>G (p.Ile21691Ser) c.60149T>G (p.Ile20050Ser) n.596+13030A>C n.2768-94A>C c.64169T>G (p.Ile21390Ser) c.38063T>G (p.Ile12688Ser) c.37922T>G (p.Ile12641Ser) c.63965T>G (p.Ile21322Ser) c.59363T>G (p.Ile19788Ser) c.59360T>G (p.Ile19787Ser) c.56402T>G (p.Ile18801Ser) c.38018T>G (p.Ile12673Ser) c.59513T>G (p.Ile19838Ser) c.59510T>G (p.Ile19837Ser) c.58943T>G (p.Ile19648Ser) c.56285T>G (p.Ile18762Ser) c.56204T>G (p.Ile18735Ser) c.37967T>G (p.Ile12656Ser) c.27821T>G (p.Ile9274Ser) | dbSNP |
| 2 | g.178584479A>G | CA16610321 | TTN,TTN-AS1 | c.57368T>C (p.Ile19123Thr) c.38453T>C (p.Ile12818Thr) c.38252T>C (p.Ile12751Thr) c.37877T>C (p.Ile12626Thr) c.65072T>C (p.Ile21691Thr) c.60149T>C (p.Ile20050Thr) n.596+13030A>G n.2768-94A>G c.64169T>C (p.Ile21390Thr) c.38063T>C (p.Ile12688Thr) c.37922T>C (p.Ile12641Thr) c.63965T>C (p.Ile21322Thr) c.59363T>C (p.Ile19788Thr) c.59360T>C (p.Ile19787Thr) c.56402T>C (p.Ile18801Thr) c.38018T>C (p.Ile12673Thr) c.59513T>C (p.Ile19838Thr) c.59510T>C (p.Ile19837Thr) c.58943T>C (p.Ile19648Thr) c.56285T>C (p.Ile18762Thr) c.56204T>C (p.Ile18735Thr) c.37967T>C (p.Ile12656Thr) c.27821T>C (p.Ile9274Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178584479A>T | CA349435458 | TTN,TTN-AS1 | c.57368T>A (p.Ile19123Asn) c.38453T>A (p.Ile12818Asn) c.38252T>A (p.Ile12751Asn) c.37877T>A (p.Ile12626Asn) c.65072T>A (p.Ile21691Asn) c.60149T>A (p.Ile20050Asn) n.596+13030A>T n.2768-94A>T c.64169T>A (p.Ile21390Asn) c.38063T>A (p.Ile12688Asn) c.37922T>A (p.Ile12641Asn) c.63965T>A (p.Ile21322Asn) c.59363T>A (p.Ile19788Asn) c.59360T>A (p.Ile19787Asn) c.56402T>A (p.Ile18801Asn) c.38018T>A (p.Ile12673Asn) c.59513T>A (p.Ile19838Asn) c.59510T>A (p.Ile19837Asn) c.58943T>A (p.Ile19648Asn) c.56285T>A (p.Ile18762Asn) c.56204T>A (p.Ile18735Asn) c.37967T>A (p.Ile12656Asn) c.27821T>A (p.Ile9274Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178584480T>A | CA349435461 | TTN,TTN-AS1 | c.57367A>T (p.Ile19123Phe) c.38452A>T (p.Ile12818Phe) c.38251A>T (p.Ile12751Phe) c.37876A>T (p.Ile12626Phe) c.65071A>T (p.Ile21691Phe) c.60148A>T (p.Ile20050Phe) n.596+13031T>A n.2768-93T>A c.64168A>T (p.Ile21390Phe) c.38062A>T (p.Ile12688Phe) c.37921A>T (p.Ile12641Phe) c.63964A>T (p.Ile21322Phe) c.59362A>T (p.Ile19788Phe) c.59359A>T (p.Ile19787Phe) c.56401A>T (p.Ile18801Phe) c.38017A>T (p.Ile12673Phe) c.59512A>T (p.Ile19838Phe) c.59509A>T (p.Ile19837Phe) c.58942A>T (p.Ile19648Phe) c.56284A>T (p.Ile18762Phe) c.56203A>T (p.Ile18735Phe) c.37966A>T (p.Ile12656Phe) c.27820A>T (p.Ile9274Phe) | |
| 2 | g.178584480T>C | CA349435462 | TTN,TTN-AS1 | c.57367A>G (p.Ile19123Val) c.38452A>G (p.Ile12818Val) c.38251A>G (p.Ile12751Val) c.37876A>G (p.Ile12626Val) c.65071A>G (p.Ile21691Val) c.60148A>G (p.Ile20050Val) n.596+13031T>C n.2768-93T>C c.64168A>G (p.Ile21390Val) c.38062A>G (p.Ile12688Val) c.37921A>G (p.Ile12641Val) c.63964A>G (p.Ile21322Val) c.59362A>G (p.Ile19788Val) c.59359A>G (p.Ile19787Val) c.56401A>G (p.Ile18801Val) c.38017A>G (p.Ile12673Val) c.59512A>G (p.Ile19838Val) c.59509A>G (p.Ile19837Val) c.58942A>G (p.Ile19648Val) c.56284A>G (p.Ile18762Val) c.56203A>G (p.Ile18735Val) c.37966A>G (p.Ile12656Val) c.27820A>G (p.Ile9274Val) | dbSNP |
| 2 | g.178584480T>G | CA349435464 | TTN,TTN-AS1 | c.57367A>C (p.Ile19123Leu) c.38452A>C (p.Ile12818Leu) c.38251A>C (p.Ile12751Leu) c.37876A>C (p.Ile12626Leu) c.65071A>C (p.Ile21691Leu) c.60148A>C (p.Ile20050Leu) n.596+13031T>G n.2768-93T>G c.64168A>C (p.Ile21390Leu) c.38062A>C (p.Ile12688Leu) c.37921A>C (p.Ile12641Leu) c.63964A>C (p.Ile21322Leu) c.59362A>C (p.Ile19788Leu) c.59359A>C (p.Ile19787Leu) c.56401A>C (p.Ile18801Leu) c.38017A>C (p.Ile12673Leu) c.59512A>C (p.Ile19838Leu) c.59509A>C (p.Ile19837Leu) c.58942A>C (p.Ile19648Leu) c.56284A>C (p.Ile18762Leu) c.56203A>C (p.Ile18735Leu) c.37966A>C (p.Ile12656Leu) c.27820A>C (p.Ile9274Leu) | |
| 2 | g.178584480T= | CA1310537032 | TTN,TTN-AS1 | c.57367A= (p.Ile19123=) c.38452A= (p.Ile12818=) c.38251A= (p.Ile12751=) c.37876A= (p.Ile12626=) c.65071A= (p.Ile21691=) c.60148A= (p.Ile20050=) n.596+13031T= n.2768-93T= c.64168A= (p.Ile21390=) c.38062A= (p.Ile12688=) c.37921A= (p.Ile12641=) c.63964A= (p.Ile21322=) c.59362A= (p.Ile19788=) c.59359A= (p.Ile19787=) c.56401A= (p.Ile18801=) c.38017A= (p.Ile12673=) c.59512A= (p.Ile19838=) c.59509A= (p.Ile19837=) c.58942A= (p.Ile19648=) c.56284A= (p.Ile18762=) c.56203A= (p.Ile18735=) c.37966A= (p.Ile12656=) c.27820A= (p.Ile9274=) | |
| 2 | g.178584481G>A | CA430263244 | TTN,TTN-AS1 | c.57366C>T (p.Pro19122=) c.38451C>T (p.Pro12817=) c.38250C>T (p.Pro12750=) c.37875C>T (p.Pro12625=) c.65070C>T (p.Pro21690=) c.60147C>T (p.Pro20049=) n.596+13032G>A n.2768-92G>A c.64167C>T (p.Pro21389=) c.38061C>T (p.Pro12687=) c.37920C>T (p.Pro12640=) c.63963C>T (p.Pro21321=) c.59361C>T (p.Pro19787=) c.59358C>T (p.Pro19786=) c.56400C>T (p.Pro18800=) c.38016C>T (p.Pro12672=) c.59511C>T (p.Pro19837=) c.59508C>T (p.Pro19836=) c.58941C>T (p.Pro19647=) c.56283C>T (p.Pro18761=) c.56202C>T (p.Pro18734=) c.37965C>T (p.Pro12655=) c.27819C>T (p.Pro9273=) | |
| 2 | g.178584481G>C | CA430263242 | TTN,TTN-AS1 | c.57366C>G (p.Pro19122=) c.38451C>G (p.Pro12817=) c.38250C>G (p.Pro12750=) c.37875C>G (p.Pro12625=) c.65070C>G (p.Pro21690=) c.60147C>G (p.Pro20049=) n.596+13032G>C n.2768-92G>C c.64167C>G (p.Pro21389=) c.38061C>G (p.Pro12687=) c.37920C>G (p.Pro12640=) c.63963C>G (p.Pro21321=) c.59361C>G (p.Pro19787=) c.59358C>G (p.Pro19786=) c.56400C>G (p.Pro18800=) c.38016C>G (p.Pro12672=) c.59511C>G (p.Pro19837=) c.59508C>G (p.Pro19836=) c.58941C>G (p.Pro19647=) c.56283C>G (p.Pro18761=) c.56202C>G (p.Pro18734=) c.37965C>G (p.Pro12655=) c.27819C>G (p.Pro9273=) | |
| 2 | g.178584481G= | CA1310537033 | TTN,TTN-AS1 | c.57366C= (p.Pro19122=) c.38451C= (p.Pro12817=) c.38250C= (p.Pro12750=) c.37875C= (p.Pro12625=) c.65070C= (p.Pro21690=) c.60147C= (p.Pro20049=) n.596+13032G= n.2768-92G= c.64167C= (p.Pro21389=) c.38061C= (p.Pro12687=) c.37920C= (p.Pro12640=) c.63963C= (p.Pro21321=) c.59361C= (p.Pro19787=) c.59358C= (p.Pro19786=) c.56400C= (p.Pro18800=) c.38016C= (p.Pro12672=) c.59511C= (p.Pro19837=) c.59508C= (p.Pro19836=) c.58941C= (p.Pro19647=) c.56283C= (p.Pro18761=) c.56202C= (p.Pro18734=) c.37965C= (p.Pro12655=) c.27819C= (p.Pro9273=) | |
| 2 | g.178584481G>T | CA430263243 | TTN,TTN-AS1 | c.57366C>A (p.Pro19122=) c.38451C>A (p.Pro12817=) c.38250C>A (p.Pro12750=) c.37875C>A (p.Pro12625=) c.65070C>A (p.Pro21690=) c.60147C>A (p.Pro20049=) n.596+13032G>T n.2768-92G>T c.64167C>A (p.Pro21389=) c.38061C>A (p.Pro12687=) c.37920C>A (p.Pro12640=) c.63963C>A (p.Pro21321=) c.59361C>A (p.Pro19787=) c.59358C>A (p.Pro19786=) c.56400C>A (p.Pro18800=) c.38016C>A (p.Pro12672=) c.59511C>A (p.Pro19837=) c.59508C>A (p.Pro19836=) c.58941C>A (p.Pro19647=) c.56283C>A (p.Pro18761=) c.56202C>A (p.Pro18734=) c.37965C>A (p.Pro12655=) c.27819C>A (p.Pro9273=) | dbSNP |
| 2 | g.178584484del | CA2586970768 | TTN,TTN-AS1 | c.57366del (p.Ile19123LeufsTer5) c.38451del (p.Ile12818LeufsTer5) c.38250del (p.Ile12751LeufsTer5) c.37875del (p.Ile12626LeufsTer5) c.65070del (p.Ile21691LeufsTer5) c.60147del (p.Ile20050LeufsTer5) n.596+13035del n.2768-89del c.64167del (p.Ile21390LeufsTer5) c.38061del (p.Ile12688LeufsTer5) c.37920del (p.Ile12641LeufsTer5) c.63963del (p.Ile21322LeufsTer5) c.59361del (p.Ile19788LeufsTer5) c.59358del (p.Ile19787LeufsTer5) c.56400del (p.Ile18801LeufsTer5) c.38016del (p.Ile12673LeufsTer5) c.59511del (p.Ile19838LeufsTer5) c.59508del (p.Ile19837LeufsTer5) c.58941del (p.Ile19648LeufsTer5) c.56283del (p.Ile18762LeufsTer5) c.56202del (p.Ile18735LeufsTer5) c.37965del (p.Ile12656LeufsTer5) c.27819del (p.Ile9274LeufsTer5) | |
| 2 | g.178584482G>A | CA349435467 | TTN,TTN-AS1 | c.57365C>T (p.Pro19122Leu) c.38450C>T (p.Pro12817Leu) c.38249C>T (p.Pro12750Leu) c.37874C>T (p.Pro12625Leu) c.65069C>T (p.Pro21690Leu) c.60146C>T (p.Pro20049Leu) n.596+13033G>A n.2768-91G>A c.64166C>T (p.Pro21389Leu) c.38060C>T (p.Pro12687Leu) c.37919C>T (p.Pro12640Leu) c.63962C>T (p.Pro21321Leu) c.59360C>T (p.Pro19787Leu) c.59357C>T (p.Pro19786Leu) c.56399C>T (p.Pro18800Leu) c.38015C>T (p.Pro12672Leu) c.59510C>T (p.Pro19837Leu) c.59507C>T (p.Pro19836Leu) c.58940C>T (p.Pro19647Leu) c.56282C>T (p.Pro18761Leu) c.56201C>T (p.Pro18734Leu) c.37964C>T (p.Pro12655Leu) c.27818C>T (p.Pro9273Leu) | dbSNP gnomAD v4 |
| 2 | g.178584482G>C | CA349435470 | TTN,TTN-AS1 | c.57365C>G (p.Pro19122Arg) c.38450C>G (p.Pro12817Arg) c.38249C>G (p.Pro12750Arg) c.37874C>G (p.Pro12625Arg) c.65069C>G (p.Pro21690Arg) c.60146C>G (p.Pro20049Arg) n.596+13033G>C n.2768-91G>C c.64166C>G (p.Pro21389Arg) c.38060C>G (p.Pro12687Arg) c.37919C>G (p.Pro12640Arg) c.63962C>G (p.Pro21321Arg) c.59360C>G (p.Pro19787Arg) c.59357C>G (p.Pro19786Arg) c.56399C>G (p.Pro18800Arg) c.38015C>G (p.Pro12672Arg) c.59510C>G (p.Pro19837Arg) c.59507C>G (p.Pro19836Arg) c.58940C>G (p.Pro19647Arg) c.56282C>G (p.Pro18761Arg) c.56201C>G (p.Pro18734Arg) c.37964C>G (p.Pro12655Arg) c.27818C>G (p.Pro9273Arg) | |
| 2 | g.178584482G= | CA1310537034 | TTN,TTN-AS1 | c.57365C= (p.Pro19122=) c.38450C= (p.Pro12817=) c.38249C= (p.Pro12750=) c.37874C= (p.Pro12625=) c.65069C= (p.Pro21690=) c.60146C= (p.Pro20049=) n.596+13033G= n.2768-91G= c.64166C= (p.Pro21389=) c.38060C= (p.Pro12687=) c.37919C= (p.Pro12640=) c.63962C= (p.Pro21321=) c.59360C= (p.Pro19787=) c.59357C= (p.Pro19786=) c.56399C= (p.Pro18800=) c.38015C= (p.Pro12672=) c.59510C= (p.Pro19837=) c.59507C= (p.Pro19836=) c.58940C= (p.Pro19647=) c.56282C= (p.Pro18761=) c.56201C= (p.Pro18734=) c.37964C= (p.Pro12655=) c.27818C= (p.Pro9273=) | |
| 2 | g.178584482G>T | CA349435468 | TTN,TTN-AS1 | c.57365C>A (p.Pro19122His) c.38450C>A (p.Pro12817His) c.38249C>A (p.Pro12750His) c.37874C>A (p.Pro12625His) c.65069C>A (p.Pro21690His) c.60146C>A (p.Pro20049His) n.596+13033G>T n.2768-91G>T c.64166C>A (p.Pro21389His) c.38060C>A (p.Pro12687His) c.37919C>A (p.Pro12640His) c.63962C>A (p.Pro21321His) c.59360C>A (p.Pro19787His) c.59357C>A (p.Pro19786His) c.56399C>A (p.Pro18800His) c.38015C>A (p.Pro12672His) c.59510C>A (p.Pro19837His) c.59507C>A (p.Pro19836His) c.58940C>A (p.Pro19647His) c.56282C>A (p.Pro18761His) c.56201C>A (p.Pro18734His) c.37964C>A (p.Pro12655His) c.27818C>A (p.Pro9273His) | |
| 2 | g.178584483G>A | CA349435472 | TTN,TTN-AS1 | c.57364C>T (p.Pro19122Ser) c.38449C>T (p.Pro12817Ser) c.38248C>T (p.Pro12750Ser) c.37873C>T (p.Pro12625Ser) c.65068C>T (p.Pro21690Ser) c.60145C>T (p.Pro20049Ser) n.596+13034G>A n.2768-90G>A c.64165C>T (p.Pro21389Ser) c.38059C>T (p.Pro12687Ser) c.37918C>T (p.Pro12640Ser) c.63961C>T (p.Pro21321Ser) c.59359C>T (p.Pro19787Ser) c.59356C>T (p.Pro19786Ser) c.56398C>T (p.Pro18800Ser) c.38014C>T (p.Pro12672Ser) c.59509C>T (p.Pro19837Ser) c.59506C>T (p.Pro19836Ser) c.58939C>T (p.Pro19647Ser) c.56281C>T (p.Pro18761Ser) c.56200C>T (p.Pro18734Ser) c.37963C>T (p.Pro12655Ser) c.27817C>T (p.Pro9273Ser) | dbSNP gnomAD v4 |
| 2 | g.178584483G>C | CA349435474 | TTN,TTN-AS1 | c.57364C>G (p.Pro19122Ala) c.38449C>G (p.Pro12817Ala) c.38248C>G (p.Pro12750Ala) c.37873C>G (p.Pro12625Ala) c.65068C>G (p.Pro21690Ala) c.60145C>G (p.Pro20049Ala) n.596+13034G>C n.2768-90G>C c.64165C>G (p.Pro21389Ala) c.38059C>G (p.Pro12687Ala) c.37918C>G (p.Pro12640Ala) c.63961C>G (p.Pro21321Ala) c.59359C>G (p.Pro19787Ala) c.59356C>G (p.Pro19786Ala) c.56398C>G (p.Pro18800Ala) c.38014C>G (p.Pro12672Ala) c.59509C>G (p.Pro19837Ala) c.59506C>G (p.Pro19836Ala) c.58939C>G (p.Pro19647Ala) c.56281C>G (p.Pro18761Ala) c.56200C>G (p.Pro18734Ala) c.37963C>G (p.Pro12655Ala) c.27817C>G (p.Pro9273Ala) | gnomAD v4 |