| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178545415_178545465delinsTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCC | CA1310522129 | TTN,TTN-AS1 | c.87941_87991delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg29314=) c.69026_69076delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg23009=) c.68825_68875delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg22942=) c.68450_68500delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg22817=) c.95645_95695delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg31882=) c.90722_90772delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg30241=) n.446+21779_446+21829delinsTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCC n.2043+3054_2043+3104delinsTGGAAGCTTCGCTGGGCTCACTGTTACCAGCTGCATTCACTGCGGTCACCC c.94742_94792delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg31581=) c.68636_68686delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg22879=) c.68495_68545delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg22832=) c.94538_94588delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg31513=) c.89936_89986delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg29979=) c.89933_89983delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg29978=) c.86975_87025delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg28992=) c.68591_68641delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg22864=) c.90086_90136delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg30029=) c.90083_90133delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg30028=) c.89516_89566delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg29839=) c.86858_86908delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg28953=) c.86777_86827delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg28926=) c.68540_68590delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg22847=) c.58394_58444delinsGGGTGACCGCAGTGAATGCAGCTGGTAACAGTGAGCCCAGCGAAGCTTCCA (p.Arg19465=) | |
| 2 | g.178545420_178545469del | CA1986901 | TTN,TTN-AS1 | c.87941_87990del (p.Arg29314GlnfsTer29) c.69026_69075del (p.Arg23009GlnfsTer29) c.68825_68874del (p.Arg22942GlnfsTer29) c.68450_68499del (p.Arg22817GlnfsTer29) c.95645_95694del (p.Arg31882GlnfsTer29) c.90722_90771del (p.Arg30241GlnfsTer29) n.446+21784_446+21833del n.2043+3059_2043+3108del c.94742_94791del (p.Arg31581GlnfsTer29) c.68636_68685del (p.Arg22879GlnfsTer29) c.68495_68544del (p.Arg22832GlnfsTer29) c.94538_94587del (p.Arg31513GlnfsTer29) c.89936_89985del (p.Arg29979GlnfsTer29) c.89933_89982del (p.Arg29978GlnfsTer29) c.86975_87024del (p.Arg28992GlnfsTer29) c.68591_68640del (p.Arg22864GlnfsTer29) c.90086_90135del (p.Arg30029GlnfsTer29) c.90083_90132del (p.Arg30028GlnfsTer29) c.89516_89565del (p.Arg29839GlnfsTer29) c.86858_86907del (p.Arg28953GlnfsTer29) c.86777_86826del (p.Arg28926GlnfsTer29) c.68540_68589del (p.Arg22847GlnfsTer29) c.58394_58443del (p.Arg19465GlnfsTer29) | dbSNP ExAC |
| 2 | g.178545462A>C | CA349459621 | TTN,TTN-AS1 | c.87944T>G (p.Val29315Gly) c.69029T>G (p.Val23010Gly) c.68828T>G (p.Val22943Gly) c.68453T>G (p.Val22818Gly) c.95648T>G (p.Val31883Gly) c.90725T>G (p.Val30242Gly) n.446+21826A>C n.2043+3101A>C c.94745T>G (p.Val31582Gly) c.68639T>G (p.Val22880Gly) c.68498T>G (p.Val22833Gly) c.94541T>G (p.Val31514Gly) c.89939T>G (p.Val29980Gly) c.89936T>G (p.Val29979Gly) c.86978T>G (p.Val28993Gly) c.68594T>G (p.Val22865Gly) c.90089T>G (p.Val30030Gly) c.90086T>G (p.Val30029Gly) c.89519T>G (p.Val29840Gly) c.86861T>G (p.Val28954Gly) c.86780T>G (p.Val28927Gly) c.68543T>G (p.Val22848Gly) c.58397T>G (p.Val19466Gly) | |
| 2 | g.178545462A>G | CA349459608 | TTN,TTN-AS1 | c.87944T>C (p.Val29315Ala) c.69029T>C (p.Val23010Ala) c.68828T>C (p.Val22943Ala) c.68453T>C (p.Val22818Ala) c.95648T>C (p.Val31883Ala) c.90725T>C (p.Val30242Ala) n.446+21826A>G n.2043+3101A>G c.94745T>C (p.Val31582Ala) c.68639T>C (p.Val22880Ala) c.68498T>C (p.Val22833Ala) c.94541T>C (p.Val31514Ala) c.89939T>C (p.Val29980Ala) c.89936T>C (p.Val29979Ala) c.86978T>C (p.Val28993Ala) c.68594T>C (p.Val22865Ala) c.90089T>C (p.Val30030Ala) c.90086T>C (p.Val30029Ala) c.89519T>C (p.Val29840Ala) c.86861T>C (p.Val28954Ala) c.86780T>C (p.Val28927Ala) c.68543T>C (p.Val22848Ala) c.58397T>C (p.Val19466Ala) | ClinVar |
| 2 | g.178545462A>T | CA349459611 | TTN,TTN-AS1 | c.87944T>A (p.Val29315Glu) c.69029T>A (p.Val23010Glu) c.68828T>A (p.Val22943Glu) c.68453T>A (p.Val22818Glu) c.95648T>A (p.Val31883Glu) c.90725T>A (p.Val30242Glu) n.446+21826A>T n.2043+3101A>T c.94745T>A (p.Val31582Glu) c.68639T>A (p.Val22880Glu) c.68498T>A (p.Val22833Glu) c.94541T>A (p.Val31514Glu) c.89939T>A (p.Val29980Glu) c.89936T>A (p.Val29979Glu) c.86978T>A (p.Val28993Glu) c.68594T>A (p.Val22865Glu) c.90089T>A (p.Val30030Glu) c.90086T>A (p.Val30029Glu) c.89519T>A (p.Val29840Glu) c.86861T>A (p.Val28954Glu) c.86780T>A (p.Val28927Glu) c.68543T>A (p.Val22848Glu) c.58397T>A (p.Val19466Glu) | |
| 2 | g.178545463C>A | CA349459623 | TTN,TTN-AS1 | c.87943G>T (p.Val29315Leu) c.69028G>T (p.Val23010Leu) c.68827G>T (p.Val22943Leu) c.68452G>T (p.Val22818Leu) c.95647G>T (p.Val31883Leu) c.90724G>T (p.Val30242Leu) n.446+21827C>A n.2043+3102C>A c.94744G>T (p.Val31582Leu) c.68638G>T (p.Val22880Leu) c.68497G>T (p.Val22833Leu) c.94540G>T (p.Val31514Leu) c.89938G>T (p.Val29980Leu) c.89935G>T (p.Val29979Leu) c.86977G>T (p.Val28993Leu) c.68593G>T (p.Val22865Leu) c.90088G>T (p.Val30030Leu) c.90085G>T (p.Val30029Leu) c.89518G>T (p.Val29840Leu) c.86860G>T (p.Val28954Leu) c.86779G>T (p.Val28927Leu) c.68542G>T (p.Val22848Leu) c.58396G>T (p.Val19466Leu) | |
| 2 | g.178545463C= | CA1310522173 | TTN,TTN-AS1 | c.87943G= (p.Val29315=) c.69028G= (p.Val23010=) c.68827G= (p.Val22943=) c.68452G= (p.Val22818=) c.95647G= (p.Val31883=) c.90724G= (p.Val30242=) n.446+21827C= n.2043+3102C= c.94744G= (p.Val31582=) c.68638G= (p.Val22880=) c.68497G= (p.Val22833=) c.94540G= (p.Val31514=) c.89938G= (p.Val29980=) c.89935G= (p.Val29979=) c.86977G= (p.Val28993=) c.68593G= (p.Val22865=) c.90088G= (p.Val30030=) c.90085G= (p.Val30029=) c.89518G= (p.Val29840=) c.86860G= (p.Val28954=) c.86779G= (p.Val28927=) c.68542G= (p.Val22848=) c.58396G= (p.Val19466=) | |
| 2 | g.178545463C>G | CA349459628 | TTN,TTN-AS1 | c.87943G>C (p.Val29315Leu) c.69028G>C (p.Val23010Leu) c.68827G>C (p.Val22943Leu) c.68452G>C (p.Val22818Leu) c.95647G>C (p.Val31883Leu) c.90724G>C (p.Val30242Leu) n.446+21827C>G n.2043+3102C>G c.94744G>C (p.Val31582Leu) c.68638G>C (p.Val22880Leu) c.68497G>C (p.Val22833Leu) c.94540G>C (p.Val31514Leu) c.89938G>C (p.Val29980Leu) c.89935G>C (p.Val29979Leu) c.86977G>C (p.Val28993Leu) c.68593G>C (p.Val22865Leu) c.90088G>C (p.Val30030Leu) c.90085G>C (p.Val30029Leu) c.89518G>C (p.Val29840Leu) c.86860G>C (p.Val28954Leu) c.86779G>C (p.Val28927Leu) c.68542G>C (p.Val22848Leu) c.58396G>C (p.Val19466Leu) | |
| 2 | g.178545463C>T | CA1986910 | TTN,TTN-AS1 | c.87943G>A (p.Val29315Met) c.69028G>A (p.Val23010Met) c.68827G>A (p.Val22943Met) c.68452G>A (p.Val22818Met) c.95647G>A (p.Val31883Met) c.90724G>A (p.Val30242Met) n.446+21827C>T n.2043+3102C>T c.94744G>A (p.Val31582Met) c.68638G>A (p.Val22880Met) c.68497G>A (p.Val22833Met) c.94540G>A (p.Val31514Met) c.89938G>A (p.Val29980Met) c.89935G>A (p.Val29979Met) c.86977G>A (p.Val28993Met) c.68593G>A (p.Val22865Met) c.90088G>A (p.Val30030Met) c.90085G>A (p.Val30029Met) c.89518G>A (p.Val29840Met) c.86860G>A (p.Val28954Met) c.86779G>A (p.Val28927Met) c.68542G>A (p.Val22848Met) c.58396G>A (p.Val19466Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178545464C>A | CA430101464 | TTN,TTN-AS1 | c.87942G>T (p.Arg29314=) c.69027G>T (p.Arg23009=) c.68826G>T (p.Arg22942=) c.68451G>T (p.Arg22817=) c.95646G>T (p.Arg31882=) c.90723G>T (p.Arg30241=) n.446+21828C>A n.2043+3103C>A c.94743G>T (p.Arg31581=) c.68637G>T (p.Arg22879=) c.68496G>T (p.Arg22832=) c.94539G>T (p.Arg31513=) c.89937G>T (p.Arg29979=) c.89934G>T (p.Arg29978=) c.86976G>T (p.Arg28992=) c.68592G>T (p.Arg22864=) c.90087G>T (p.Arg30029=) c.90084G>T (p.Arg30028=) c.89517G>T (p.Arg29839=) c.86859G>T (p.Arg28953=) c.86778G>T (p.Arg28926=) c.68541G>T (p.Arg22847=) c.58395G>T (p.Arg19465=) | |
| 2 | g.178545464C>G | CA430101463 | TTN,TTN-AS1 | c.87942G>C (p.Arg29314=) c.69027G>C (p.Arg23009=) c.68826G>C (p.Arg22942=) c.68451G>C (p.Arg22817=) c.95646G>C (p.Arg31882=) c.90723G>C (p.Arg30241=) n.446+21828C>G n.2043+3103C>G c.94743G>C (p.Arg31581=) c.68637G>C (p.Arg22879=) c.68496G>C (p.Arg22832=) c.94539G>C (p.Arg31513=) c.89937G>C (p.Arg29979=) c.89934G>C (p.Arg29978=) c.86976G>C (p.Arg28992=) c.68592G>C (p.Arg22864=) c.90087G>C (p.Arg30029=) c.90084G>C (p.Arg30028=) c.89517G>C (p.Arg29839=) c.86859G>C (p.Arg28953=) c.86778G>C (p.Arg28926=) c.68541G>C (p.Arg22847=) c.58395G>C (p.Arg19465=) | |
| 2 | g.178545464C>T | CA430101462 | TTN,TTN-AS1 | c.87942G>A (p.Arg29314=) c.69027G>A (p.Arg23009=) c.68826G>A (p.Arg22942=) c.68451G>A (p.Arg22817=) c.95646G>A (p.Arg31882=) c.90723G>A (p.Arg30241=) n.446+21828C>T n.2043+3103C>T c.94743G>A (p.Arg31581=) c.68637G>A (p.Arg22879=) c.68496G>A (p.Arg22832=) c.94539G>A (p.Arg31513=) c.89937G>A (p.Arg29979=) c.89934G>A (p.Arg29978=) c.86976G>A (p.Arg28992=) c.68592G>A (p.Arg22864=) c.90087G>A (p.Arg30029=) c.90084G>A (p.Arg30028=) c.89517G>A (p.Arg29839=) c.86859G>A (p.Arg28953=) c.86778G>A (p.Arg28926=) c.68541G>A (p.Arg22847=) c.58395G>A (p.Arg19465=) | |
| 2 | g.178545465C>A | CA349459631 | TTN,TTN-AS1 | c.87941G>T (p.Arg29314Leu) c.69026G>T (p.Arg23009Leu) c.68825G>T (p.Arg22942Leu) c.68450G>T (p.Arg22817Leu) c.95645G>T (p.Arg31882Leu) c.90722G>T (p.Arg30241Leu) n.446+21829C>A n.2043+3104C>A c.94742G>T (p.Arg31581Leu) c.68636G>T (p.Arg22879Leu) c.68495G>T (p.Arg22832Leu) c.94538G>T (p.Arg31513Leu) c.89936G>T (p.Arg29979Leu) c.89933G>T (p.Arg29978Leu) c.86975G>T (p.Arg28992Leu) c.68591G>T (p.Arg22864Leu) c.90086G>T (p.Arg30029Leu) c.90083G>T (p.Arg30028Leu) c.89516G>T (p.Arg29839Leu) c.86858G>T (p.Arg28953Leu) c.86777G>T (p.Arg28926Leu) c.68540G>T (p.Arg22847Leu) c.58394G>T (p.Arg19465Leu) | |
| 2 | g.178545465C= | CA1310522175 | TTN,TTN-AS1 | c.87941G= (p.Arg29314=) c.69026G= (p.Arg23009=) c.68825G= (p.Arg22942=) c.68450G= (p.Arg22817=) c.95645G= (p.Arg31882=) c.90722G= (p.Arg30241=) n.446+21829C= n.2043+3104C= c.94742G= (p.Arg31581=) c.68636G= (p.Arg22879=) c.68495G= (p.Arg22832=) c.94538G= (p.Arg31513=) c.89936G= (p.Arg29979=) c.89933G= (p.Arg29978=) c.86975G= (p.Arg28992=) c.68591G= (p.Arg22864=) c.90086G= (p.Arg30029=) c.90083G= (p.Arg30028=) c.89516G= (p.Arg29839=) c.86858G= (p.Arg28953=) c.86777G= (p.Arg28926=) c.68540G= (p.Arg22847=) c.58394G= (p.Arg19465=) | |
| 2 | g.178545465C>G | CA349459632 | TTN,TTN-AS1 | c.87941G>C (p.Arg29314Pro) c.69026G>C (p.Arg23009Pro) c.68825G>C (p.Arg22942Pro) c.68450G>C (p.Arg22817Pro) c.95645G>C (p.Arg31882Pro) c.90722G>C (p.Arg30241Pro) n.446+21829C>G n.2043+3104C>G c.94742G>C (p.Arg31581Pro) c.68636G>C (p.Arg22879Pro) c.68495G>C (p.Arg22832Pro) c.94538G>C (p.Arg31513Pro) c.89936G>C (p.Arg29979Pro) c.89933G>C (p.Arg29978Pro) c.86975G>C (p.Arg28992Pro) c.68591G>C (p.Arg22864Pro) c.90086G>C (p.Arg30029Pro) c.90083G>C (p.Arg30028Pro) c.89516G>C (p.Arg29839Pro) c.86858G>C (p.Arg28953Pro) c.86777G>C (p.Arg28926Pro) c.68540G>C (p.Arg22847Pro) c.58394G>C (p.Arg19465Pro) | |
| 2 | g.178545465C>T | CA1986911 | TTN,TTN-AS1 | c.87941G>A (p.Arg29314Gln) c.69026G>A (p.Arg23009Gln) c.68825G>A (p.Arg22942Gln) c.68450G>A (p.Arg22817Gln) c.95645G>A (p.Arg31882Gln) c.90722G>A (p.Arg30241Gln) n.446+21829C>T n.2043+3104C>T c.94742G>A (p.Arg31581Gln) c.68636G>A (p.Arg22879Gln) c.68495G>A (p.Arg22832Gln) c.94538G>A (p.Arg31513Gln) c.89936G>A (p.Arg29979Gln) c.89933G>A (p.Arg29978Gln) c.86975G>A (p.Arg28992Gln) c.68591G>A (p.Arg22864Gln) c.90086G>A (p.Arg30029Gln) c.90083G>A (p.Arg30028Gln) c.89516G>A (p.Arg29839Gln) c.86858G>A (p.Arg28953Gln) c.86777G>A (p.Arg28926Gln) c.68540G>A (p.Arg22847Gln) c.58394G>A (p.Arg19465Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178545466G>A | CA60971121 | TTN,TTN-AS1 | c.87940C>T (p.Arg29314Trp) c.69025C>T (p.Arg23009Trp) c.68824C>T (p.Arg22942Trp) c.68449C>T (p.Arg22817Trp) c.95644C>T (p.Arg31882Trp) c.90721C>T (p.Arg30241Trp) n.446+21830G>A n.2043+3105G>A c.94741C>T (p.Arg31581Trp) c.68635C>T (p.Arg22879Trp) c.68494C>T (p.Arg22832Trp) c.94537C>T (p.Arg31513Trp) c.89935C>T (p.Arg29979Trp) c.89932C>T (p.Arg29978Trp) c.86974C>T (p.Arg28992Trp) c.68590C>T (p.Arg22864Trp) c.90085C>T (p.Arg30029Trp) c.90082C>T (p.Arg30028Trp) c.89515C>T (p.Arg29839Trp) c.86857C>T (p.Arg28953Trp) c.86776C>T (p.Arg28926Trp) c.68539C>T (p.Arg22847Trp) c.58393C>T (p.Arg19465Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178545466G>C | CA349459635 | TTN,TTN-AS1 | c.87940C>G (p.Arg29314Gly) c.69025C>G (p.Arg23009Gly) c.68824C>G (p.Arg22942Gly) c.68449C>G (p.Arg22817Gly) c.95644C>G (p.Arg31882Gly) c.90721C>G (p.Arg30241Gly) n.446+21830G>C n.2043+3105G>C c.94741C>G (p.Arg31581Gly) c.68635C>G (p.Arg22879Gly) c.68494C>G (p.Arg22832Gly) c.94537C>G (p.Arg31513Gly) c.89935C>G (p.Arg29979Gly) c.89932C>G (p.Arg29978Gly) c.86974C>G (p.Arg28992Gly) c.68590C>G (p.Arg22864Gly) c.90085C>G (p.Arg30029Gly) c.90082C>G (p.Arg30028Gly) c.89515C>G (p.Arg29839Gly) c.86857C>G (p.Arg28953Gly) c.86776C>G (p.Arg28926Gly) c.68539C>G (p.Arg22847Gly) c.58393C>G (p.Arg19465Gly) | |
| 2 | g.178545466G= | CA1310522177 | TTN,TTN-AS1 | c.87940C= (p.Arg29314=) c.69025C= (p.Arg23009=) c.68824C= (p.Arg22942=) c.68449C= (p.Arg22817=) c.95644C= (p.Arg31882=) c.90721C= (p.Arg30241=) n.446+21830G= n.2043+3105G= c.94741C= (p.Arg31581=) c.68635C= (p.Arg22879=) c.68494C= (p.Arg22832=) c.94537C= (p.Arg31513=) c.89935C= (p.Arg29979=) c.89932C= (p.Arg29978=) c.86974C= (p.Arg28992=) c.68590C= (p.Arg22864=) c.90085C= (p.Arg30029=) c.90082C= (p.Arg30028=) c.89515C= (p.Arg29839=) c.86857C= (p.Arg28953=) c.86776C= (p.Arg28926=) c.68539C= (p.Arg22847=) c.58393C= (p.Arg19465=) | |
| 2 | g.178545466G>T | CA430101466 | TTN,TTN-AS1 | c.87940C>A (p.Arg29314=) c.69025C>A (p.Arg23009=) c.68824C>A (p.Arg22942=) c.68449C>A (p.Arg22817=) c.95644C>A (p.Arg31882=) c.90721C>A (p.Arg30241=) n.446+21830G>T n.2043+3105G>T c.94741C>A (p.Arg31581=) c.68635C>A (p.Arg22879=) c.68494C>A (p.Arg22832=) c.94537C>A (p.Arg31513=) c.89935C>A (p.Arg29979=) c.89932C>A (p.Arg29978=) c.86974C>A (p.Arg28992=) c.68590C>A (p.Arg22864=) c.90085C>A (p.Arg30029=) c.90082C>A (p.Arg30028=) c.89515C>A (p.Arg29839=) c.86857C>A (p.Arg28953=) c.86776C>A (p.Arg28926=) c.68539C>A (p.Arg22847=) c.58393C>A (p.Arg19465=) | |
| 2 | g.178545467G>A | CA430101469 | TTN,TTN-AS1 | c.87939C>T (p.Phe29313=) c.69024C>T (p.Phe23008=) c.68823C>T (p.Phe22941=) c.68448C>T (p.Phe22816=) c.95643C>T (p.Phe31881=) c.90720C>T (p.Phe30240=) n.446+21831G>A n.2043+3106G>A c.94740C>T (p.Phe31580=) c.68634C>T (p.Phe22878=) c.68493C>T (p.Phe22831=) c.94536C>T (p.Phe31512=) c.89934C>T (p.Phe29978=) c.89931C>T (p.Phe29977=) c.86973C>T (p.Phe28991=) c.68589C>T (p.Phe22863=) c.90084C>T (p.Phe30028=) c.90081C>T (p.Phe30027=) c.89514C>T (p.Phe29838=) c.86856C>T (p.Phe28952=) c.86775C>T (p.Phe28925=) c.68538C>T (p.Phe22846=) c.58392C>T (p.Phe19464=) | |
| 2 | g.178545467G>C | CA349459638 | TTN,TTN-AS1 | c.87939C>G (p.Phe29313Leu) c.69024C>G (p.Phe23008Leu) c.68823C>G (p.Phe22941Leu) c.68448C>G (p.Phe22816Leu) c.95643C>G (p.Phe31881Leu) c.90720C>G (p.Phe30240Leu) n.446+21831G>C n.2043+3106G>C c.94740C>G (p.Phe31580Leu) c.68634C>G (p.Phe22878Leu) c.68493C>G (p.Phe22831Leu) c.94536C>G (p.Phe31512Leu) c.89934C>G (p.Phe29978Leu) c.89931C>G (p.Phe29977Leu) c.86973C>G (p.Phe28991Leu) c.68589C>G (p.Phe22863Leu) c.90084C>G (p.Phe30028Leu) c.90081C>G (p.Phe30027Leu) c.89514C>G (p.Phe29838Leu) c.86856C>G (p.Phe28952Leu) c.86775C>G (p.Phe28925Leu) c.68538C>G (p.Phe22846Leu) c.58392C>G (p.Phe19464Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178545467G= | CA1310522178 | TTN,TTN-AS1 | c.87939C= (p.Phe29313=) c.69024C= (p.Phe23008=) c.68823C= (p.Phe22941=) c.68448C= (p.Phe22816=) c.95643C= (p.Phe31881=) c.90720C= (p.Phe30240=) n.446+21831G= n.2043+3106G= c.94740C= (p.Phe31580=) c.68634C= (p.Phe22878=) c.68493C= (p.Phe22831=) c.94536C= (p.Phe31512=) c.89934C= (p.Phe29978=) c.89931C= (p.Phe29977=) c.86973C= (p.Phe28991=) c.68589C= (p.Phe22863=) c.90084C= (p.Phe30028=) c.90081C= (p.Phe30027=) c.89514C= (p.Phe29838=) c.86856C= (p.Phe28952=) c.86775C= (p.Phe28925=) c.68538C= (p.Phe22846=) c.58392C= (p.Phe19464=) | |
| 2 | g.178545467G>T | CA349459640 | TTN,TTN-AS1 | c.87939C>A (p.Phe29313Leu) c.69024C>A (p.Phe23008Leu) c.68823C>A (p.Phe22941Leu) c.68448C>A (p.Phe22816Leu) c.95643C>A (p.Phe31881Leu) c.90720C>A (p.Phe30240Leu) n.446+21831G>T n.2043+3106G>T c.94740C>A (p.Phe31580Leu) c.68634C>A (p.Phe22878Leu) c.68493C>A (p.Phe22831Leu) c.94536C>A (p.Phe31512Leu) c.89934C>A (p.Phe29978Leu) c.89931C>A (p.Phe29977Leu) c.86973C>A (p.Phe28991Leu) c.68589C>A (p.Phe22863Leu) c.90084C>A (p.Phe30028Leu) c.90081C>A (p.Phe30027Leu) c.89514C>A (p.Phe29838Leu) c.86856C>A (p.Phe28952Leu) c.86775C>A (p.Phe28925Leu) c.68538C>A (p.Phe22846Leu) c.58392C>A (p.Phe19464Leu) | |
| 2 | g.178545468A>C | CA349459649 | TTN,TTN-AS1 | c.87938T>G (p.Phe29313Cys) c.69023T>G (p.Phe23008Cys) c.68822T>G (p.Phe22941Cys) c.68447T>G (p.Phe22816Cys) c.95642T>G (p.Phe31881Cys) c.90719T>G (p.Phe30240Cys) n.446+21832A>C n.2043+3107A>C c.94739T>G (p.Phe31580Cys) c.68633T>G (p.Phe22878Cys) c.68492T>G (p.Phe22831Cys) c.94535T>G (p.Phe31512Cys) c.89933T>G (p.Phe29978Cys) c.89930T>G (p.Phe29977Cys) c.86972T>G (p.Phe28991Cys) c.68588T>G (p.Phe22863Cys) c.90083T>G (p.Phe30028Cys) c.90080T>G (p.Phe30027Cys) c.89513T>G (p.Phe29838Cys) c.86855T>G (p.Phe28952Cys) c.86774T>G (p.Phe28925Cys) c.68537T>G (p.Phe22846Cys) c.58391T>G (p.Phe19464Cys) | |
| 2 | g.178545468A>G | CA349459654 | TTN,TTN-AS1 | c.87938T>C (p.Phe29313Ser) c.69023T>C (p.Phe23008Ser) c.68822T>C (p.Phe22941Ser) c.68447T>C (p.Phe22816Ser) c.95642T>C (p.Phe31881Ser) c.90719T>C (p.Phe30240Ser) n.446+21832A>G n.2043+3107A>G c.94739T>C (p.Phe31580Ser) c.68633T>C (p.Phe22878Ser) c.68492T>C (p.Phe22831Ser) c.94535T>C (p.Phe31512Ser) c.89933T>C (p.Phe29978Ser) c.89930T>C (p.Phe29977Ser) c.86972T>C (p.Phe28991Ser) c.68588T>C (p.Phe22863Ser) c.90083T>C (p.Phe30028Ser) c.90080T>C (p.Phe30027Ser) c.89513T>C (p.Phe29838Ser) c.86855T>C (p.Phe28952Ser) c.86774T>C (p.Phe28925Ser) c.68537T>C (p.Phe22846Ser) c.58391T>C (p.Phe19464Ser) | |
| 2 | g.178545468A>T | CA349459646 | TTN,TTN-AS1 | c.87938T>A (p.Phe29313Tyr) c.69023T>A (p.Phe23008Tyr) c.68822T>A (p.Phe22941Tyr) c.68447T>A (p.Phe22816Tyr) c.95642T>A (p.Phe31881Tyr) c.90719T>A (p.Phe30240Tyr) n.446+21832A>T n.2043+3107A>T c.94739T>A (p.Phe31580Tyr) c.68633T>A (p.Phe22878Tyr) c.68492T>A (p.Phe22831Tyr) c.94535T>A (p.Phe31512Tyr) c.89933T>A (p.Phe29978Tyr) c.89930T>A (p.Phe29977Tyr) c.86972T>A (p.Phe28991Tyr) c.68588T>A (p.Phe22863Tyr) c.90083T>A (p.Phe30028Tyr) c.90080T>A (p.Phe30027Tyr) c.89513T>A (p.Phe29838Tyr) c.86855T>A (p.Phe28952Tyr) c.86774T>A (p.Phe28925Tyr) c.68537T>A (p.Phe22846Tyr) c.58391T>A (p.Phe19464Tyr) | |
| 2 | g.178545469A>C | CA349459656 | TTN,TTN-AS1 | c.87937T>G (p.Phe29313Val) c.69022T>G (p.Phe23008Val) c.68821T>G (p.Phe22941Val) c.68446T>G (p.Phe22816Val) c.95641T>G (p.Phe31881Val) c.90718T>G (p.Phe30240Val) n.446+21833A>C n.2043+3108A>C c.94738T>G (p.Phe31580Val) c.68632T>G (p.Phe22878Val) c.68491T>G (p.Phe22831Val) c.94534T>G (p.Phe31512Val) c.89932T>G (p.Phe29978Val) c.89929T>G (p.Phe29977Val) c.86971T>G (p.Phe28991Val) c.68587T>G (p.Phe22863Val) c.90082T>G (p.Phe30028Val) c.90079T>G (p.Phe30027Val) c.89512T>G (p.Phe29838Val) c.86854T>G (p.Phe28952Val) c.86773T>G (p.Phe28925Val) c.68536T>G (p.Phe22846Val) c.58390T>G (p.Phe19464Val) | |
| 2 | g.178545469A>G | CA349459658 | TTN,TTN-AS1 | c.87937T>C (p.Phe29313Leu) c.69022T>C (p.Phe23008Leu) c.68821T>C (p.Phe22941Leu) c.68446T>C (p.Phe22816Leu) c.95641T>C (p.Phe31881Leu) c.90718T>C (p.Phe30240Leu) n.446+21833A>G n.2043+3108A>G c.94738T>C (p.Phe31580Leu) c.68632T>C (p.Phe22878Leu) c.68491T>C (p.Phe22831Leu) c.94534T>C (p.Phe31512Leu) c.89932T>C (p.Phe29978Leu) c.89929T>C (p.Phe29977Leu) c.86971T>C (p.Phe28991Leu) c.68587T>C (p.Phe22863Leu) c.90082T>C (p.Phe30028Leu) c.90079T>C (p.Phe30027Leu) c.89512T>C (p.Phe29838Leu) c.86854T>C (p.Phe28952Leu) c.86773T>C (p.Phe28925Leu) c.68536T>C (p.Phe22846Leu) c.58390T>C (p.Phe19464Leu) | gnomAD v4 |
| 2 | g.178545469A>T | CA349459659 | TTN,TTN-AS1 | c.87937T>A (p.Phe29313Ile) c.69022T>A (p.Phe23008Ile) c.68821T>A (p.Phe22941Ile) c.68446T>A (p.Phe22816Ile) c.95641T>A (p.Phe31881Ile) c.90718T>A (p.Phe30240Ile) n.446+21833A>T n.2043+3108A>T c.94738T>A (p.Phe31580Ile) c.68632T>A (p.Phe22878Ile) c.68491T>A (p.Phe22831Ile) c.94534T>A (p.Phe31512Ile) c.89932T>A (p.Phe29978Ile) c.89929T>A (p.Phe29977Ile) c.86971T>A (p.Phe28991Ile) c.68587T>A (p.Phe22863Ile) c.90082T>A (p.Phe30028Ile) c.90079T>A (p.Phe30027Ile) c.89512T>A (p.Phe29838Ile) c.86854T>A (p.Phe28952Ile) c.86773T>A (p.Phe28925Ile) c.68536T>A (p.Phe22846Ile) c.58390T>A (p.Phe19464Ile) | gnomAD v4 |
| 2 | g.178545470C>A | CA349459662 | TTN,TTN-AS1 | c.87936G>T (p.Gln29312His) c.69021G>T (p.Gln23007His) c.68820G>T (p.Gln22940His) c.68445G>T (p.Gln22815His) c.95640G>T (p.Gln31880His) c.90717G>T (p.Gln30239His) n.446+21834C>A n.2043+3109C>A c.94737G>T (p.Gln31579His) c.68631G>T (p.Gln22877His) c.68490G>T (p.Gln22830His) c.94533G>T (p.Gln31511His) c.89931G>T (p.Gln29977His) c.89928G>T (p.Gln29976His) c.86970G>T (p.Gln28990His) c.68586G>T (p.Gln22862His) c.90081G>T (p.Gln30027His) c.90078G>T (p.Gln30026His) c.89511G>T (p.Gln29837His) c.86853G>T (p.Gln28951His) c.86772G>T (p.Gln28924His) c.68535G>T (p.Gln22845His) c.58389G>T (p.Gln19463His) | |
| 2 | g.178545470C>G | CA349459666 | TTN,TTN-AS1 | c.87936G>C (p.Gln29312His) c.69021G>C (p.Gln23007His) c.68820G>C (p.Gln22940His) c.68445G>C (p.Gln22815His) c.95640G>C (p.Gln31880His) c.90717G>C (p.Gln30239His) n.446+21834C>G n.2043+3109C>G c.94737G>C (p.Gln31579His) c.68631G>C (p.Gln22877His) c.68490G>C (p.Gln22830His) c.94533G>C (p.Gln31511His) c.89931G>C (p.Gln29977His) c.89928G>C (p.Gln29976His) c.86970G>C (p.Gln28990His) c.68586G>C (p.Gln22862His) c.90081G>C (p.Gln30027His) c.90078G>C (p.Gln30026His) c.89511G>C (p.Gln29837His) c.86853G>C (p.Gln28951His) c.86772G>C (p.Gln28924His) c.68535G>C (p.Gln22845His) c.58389G>C (p.Gln19463His) | |
| 2 | g.178545470C>T | CA430101472 | TTN,TTN-AS1 | c.87936G>A (p.Gln29312=) c.69021G>A (p.Gln23007=) c.68820G>A (p.Gln22940=) c.68445G>A (p.Gln22815=) c.95640G>A (p.Gln31880=) c.90717G>A (p.Gln30239=) n.446+21834C>T n.2043+3109C>T c.94737G>A (p.Gln31579=) c.68631G>A (p.Gln22877=) c.68490G>A (p.Gln22830=) c.94533G>A (p.Gln31511=) c.89931G>A (p.Gln29977=) c.89928G>A (p.Gln29976=) c.86970G>A (p.Gln28990=) c.68586G>A (p.Gln22862=) c.90081G>A (p.Gln30027=) c.90078G>A (p.Gln30026=) c.89511G>A (p.Gln29837=) c.86853G>A (p.Gln28951=) c.86772G>A (p.Gln28924=) c.68535G>A (p.Gln22845=) c.58389G>A (p.Gln19463=) | |
| 2 | g.178545471T>A | CA349459690 | TTN,TTN-AS1 | c.87935A>T (p.Gln29312Leu) c.69020A>T (p.Gln23007Leu) c.68819A>T (p.Gln22940Leu) c.68444A>T (p.Gln22815Leu) c.95639A>T (p.Gln31880Leu) c.90716A>T (p.Gln30239Leu) n.446+21835T>A n.2043+3110T>A c.94736A>T (p.Gln31579Leu) c.68630A>T (p.Gln22877Leu) c.68489A>T (p.Gln22830Leu) c.94532A>T (p.Gln31511Leu) c.89930A>T (p.Gln29977Leu) c.89927A>T (p.Gln29976Leu) c.86969A>T (p.Gln28990Leu) c.68585A>T (p.Gln22862Leu) c.90080A>T (p.Gln30027Leu) c.90077A>T (p.Gln30026Leu) c.89510A>T (p.Gln29837Leu) c.86852A>T (p.Gln28951Leu) c.86771A>T (p.Gln28924Leu) c.68534A>T (p.Gln22845Leu) c.58388A>T (p.Gln19463Leu) | |
| 2 | g.178545471T>C | CA349459670 | TTN,TTN-AS1 | c.87935A>G (p.Gln29312Arg) c.69020A>G (p.Gln23007Arg) c.68819A>G (p.Gln22940Arg) c.68444A>G (p.Gln22815Arg) c.95639A>G (p.Gln31880Arg) c.90716A>G (p.Gln30239Arg) n.446+21835T>C n.2043+3110T>C c.94736A>G (p.Gln31579Arg) c.68630A>G (p.Gln22877Arg) c.68489A>G (p.Gln22830Arg) c.94532A>G (p.Gln31511Arg) c.89930A>G (p.Gln29977Arg) c.89927A>G (p.Gln29976Arg) c.86969A>G (p.Gln28990Arg) c.68585A>G (p.Gln22862Arg) c.90080A>G (p.Gln30027Arg) c.90077A>G (p.Gln30026Arg) c.89510A>G (p.Gln29837Arg) c.86852A>G (p.Gln28951Arg) c.86771A>G (p.Gln28924Arg) c.68534A>G (p.Gln22845Arg) c.58388A>G (p.Gln19463Arg) | |
| 2 | g.178545471T>G | CA349459686 | TTN,TTN-AS1 | c.87935A>C (p.Gln29312Pro) c.69020A>C (p.Gln23007Pro) c.68819A>C (p.Gln22940Pro) c.68444A>C (p.Gln22815Pro) c.95639A>C (p.Gln31880Pro) c.90716A>C (p.Gln30239Pro) n.446+21835T>G n.2043+3110T>G c.94736A>C (p.Gln31579Pro) c.68630A>C (p.Gln22877Pro) c.68489A>C (p.Gln22830Pro) c.94532A>C (p.Gln31511Pro) c.89930A>C (p.Gln29977Pro) c.89927A>C (p.Gln29976Pro) c.86969A>C (p.Gln28990Pro) c.68585A>C (p.Gln22862Pro) c.90080A>C (p.Gln30027Pro) c.90077A>C (p.Gln30026Pro) c.89510A>C (p.Gln29837Pro) c.86852A>C (p.Gln28951Pro) c.86771A>C (p.Gln28924Pro) c.68534A>C (p.Gln22845Pro) c.58388A>C (p.Gln19463Pro) | |
| 2 | g.178545472G>A | CA349459693 | TTN,TTN-AS1 | c.87934C>T (p.Gln29312Ter) c.69019C>T (p.Gln23007Ter) c.68818C>T (p.Gln22940Ter) c.68443C>T (p.Gln22815Ter) c.95638C>T (p.Gln31880Ter) c.90715C>T (p.Gln30239Ter) n.446+21836G>A n.2043+3111G>A c.94735C>T (p.Gln31579Ter) c.68629C>T (p.Gln22877Ter) c.68488C>T (p.Gln22830Ter) c.94531C>T (p.Gln31511Ter) c.89929C>T (p.Gln29977Ter) c.89926C>T (p.Gln29976Ter) c.86968C>T (p.Gln28990Ter) c.68584C>T (p.Gln22862Ter) c.90079C>T (p.Gln30027Ter) c.90076C>T (p.Gln30026Ter) c.89509C>T (p.Gln29837Ter) c.86851C>T (p.Gln28951Ter) c.86770C>T (p.Gln28924Ter) c.68533C>T (p.Gln22845Ter) c.58387C>T (p.Gln19463Ter) | |
| 2 | g.178545472G>C | CA349459694 | TTN,TTN-AS1 | c.87934C>G (p.Gln29312Glu) c.69019C>G (p.Gln23007Glu) c.68818C>G (p.Gln22940Glu) c.68443C>G (p.Gln22815Glu) c.95638C>G (p.Gln31880Glu) c.90715C>G (p.Gln30239Glu) n.446+21836G>C n.2043+3111G>C c.94735C>G (p.Gln31579Glu) c.68629C>G (p.Gln22877Glu) c.68488C>G (p.Gln22830Glu) c.94531C>G (p.Gln31511Glu) c.89929C>G (p.Gln29977Glu) c.89926C>G (p.Gln29976Glu) c.86968C>G (p.Gln28990Glu) c.68584C>G (p.Gln22862Glu) c.90079C>G (p.Gln30027Glu) c.90076C>G (p.Gln30026Glu) c.89509C>G (p.Gln29837Glu) c.86851C>G (p.Gln28951Glu) c.86770C>G (p.Gln28924Glu) c.68533C>G (p.Gln22845Glu) c.58387C>G (p.Gln19463Glu) | |
| 2 | g.178545472G>T | CA349459695 | TTN,TTN-AS1 | c.87934C>A (p.Gln29312Lys) c.69019C>A (p.Gln23007Lys) c.68818C>A (p.Gln22940Lys) c.68443C>A (p.Gln22815Lys) c.95638C>A (p.Gln31880Lys) c.90715C>A (p.Gln30239Lys) n.446+21836G>T n.2043+3111G>T c.94735C>A (p.Gln31579Lys) c.68629C>A (p.Gln22877Lys) c.68488C>A (p.Gln22830Lys) c.94531C>A (p.Gln31511Lys) c.89929C>A (p.Gln29977Lys) c.89926C>A (p.Gln29976Lys) c.86968C>A (p.Gln28990Lys) c.68584C>A (p.Gln22862Lys) c.90079C>A (p.Gln30027Lys) c.90076C>A (p.Gln30026Lys) c.89509C>A (p.Gln29837Lys) c.86851C>A (p.Gln28951Lys) c.86770C>A (p.Gln28924Lys) c.68533C>A (p.Gln22845Lys) c.58387C>A (p.Gln19463Lys) | |
| 2 | g.178545473G>A | CA430101476 | TTN,TTN-AS1 | c.87933C>T (p.Tyr29311=) c.69018C>T (p.Tyr23006=) c.68817C>T (p.Tyr22939=) c.68442C>T (p.Tyr22814=) c.95637C>T (p.Tyr31879=) c.90714C>T (p.Tyr30238=) n.446+21837G>A n.2043+3112G>A c.94734C>T (p.Tyr31578=) c.68628C>T (p.Tyr22876=) c.68487C>T (p.Tyr22829=) c.94530C>T (p.Tyr31510=) c.89928C>T (p.Tyr29976=) c.89925C>T (p.Tyr29975=) c.86967C>T (p.Tyr28989=) c.68583C>T (p.Tyr22861=) c.90078C>T (p.Tyr30026=) c.90075C>T (p.Tyr30025=) c.89508C>T (p.Tyr29836=) c.86850C>T (p.Tyr28950=) c.86769C>T (p.Tyr28923=) c.68532C>T (p.Tyr22844=) c.58386C>T (p.Tyr19462=) | |
| 2 | g.178545473G>C | CA349459697 | TTN,TTN-AS1 | c.87933C>G (p.Tyr29311Ter) c.69018C>G (p.Tyr23006Ter) c.68817C>G (p.Tyr22939Ter) c.68442C>G (p.Tyr22814Ter) c.95637C>G (p.Tyr31879Ter) c.90714C>G (p.Tyr30238Ter) n.446+21837G>C n.2043+3112G>C c.94734C>G (p.Tyr31578Ter) c.68628C>G (p.Tyr22876Ter) c.68487C>G (p.Tyr22829Ter) c.94530C>G (p.Tyr31510Ter) c.89928C>G (p.Tyr29976Ter) c.89925C>G (p.Tyr29975Ter) c.86967C>G (p.Tyr28989Ter) c.68583C>G (p.Tyr22861Ter) c.90078C>G (p.Tyr30026Ter) c.90075C>G (p.Tyr30025Ter) c.89508C>G (p.Tyr29836Ter) c.86850C>G (p.Tyr28950Ter) c.86769C>G (p.Tyr28923Ter) c.68532C>G (p.Tyr22844Ter) c.58386C>G (p.Tyr19462Ter) | |
| 2 | g.178545473G>T | CA349459699 | TTN,TTN-AS1 | c.87933C>A (p.Tyr29311Ter) c.69018C>A (p.Tyr23006Ter) c.68817C>A (p.Tyr22939Ter) c.68442C>A (p.Tyr22814Ter) c.95637C>A (p.Tyr31879Ter) c.90714C>A (p.Tyr30238Ter) n.446+21837G>T n.2043+3112G>T c.94734C>A (p.Tyr31578Ter) c.68628C>A (p.Tyr22876Ter) c.68487C>A (p.Tyr22829Ter) c.94530C>A (p.Tyr31510Ter) c.89928C>A (p.Tyr29976Ter) c.89925C>A (p.Tyr29975Ter) c.86967C>A (p.Tyr28989Ter) c.68583C>A (p.Tyr22861Ter) c.90078C>A (p.Tyr30026Ter) c.90075C>A (p.Tyr30025Ter) c.89508C>A (p.Tyr29836Ter) c.86850C>A (p.Tyr28950Ter) c.86769C>A (p.Tyr28923Ter) c.68532C>A (p.Tyr22844Ter) c.58386C>A (p.Tyr19462Ter) | |
| 2 | g.178545474T>A | CA349459705 | TTN,TTN-AS1 | c.87932A>T (p.Tyr29311Phe) c.69017A>T (p.Tyr23006Phe) c.68816A>T (p.Tyr22939Phe) c.68441A>T (p.Tyr22814Phe) c.95636A>T (p.Tyr31879Phe) c.90713A>T (p.Tyr30238Phe) n.446+21838T>A n.2043+3113T>A c.94733A>T (p.Tyr31578Phe) c.68627A>T (p.Tyr22876Phe) c.68486A>T (p.Tyr22829Phe) c.94529A>T (p.Tyr31510Phe) c.89927A>T (p.Tyr29976Phe) c.89924A>T (p.Tyr29975Phe) c.86966A>T (p.Tyr28989Phe) c.68582A>T (p.Tyr22861Phe) c.90077A>T (p.Tyr30026Phe) c.90074A>T (p.Tyr30025Phe) c.89507A>T (p.Tyr29836Phe) c.86849A>T (p.Tyr28950Phe) c.86768A>T (p.Tyr28923Phe) c.68531A>T (p.Tyr22844Phe) c.58385A>T (p.Tyr19462Phe) | |
| 2 | g.178545474T>C | CA349459702 | TTN,TTN-AS1 | c.87932A>G (p.Tyr29311Cys) c.69017A>G (p.Tyr23006Cys) c.68816A>G (p.Tyr22939Cys) c.68441A>G (p.Tyr22814Cys) c.95636A>G (p.Tyr31879Cys) c.90713A>G (p.Tyr30238Cys) n.446+21838T>C n.2043+3113T>C c.94733A>G (p.Tyr31578Cys) c.68627A>G (p.Tyr22876Cys) c.68486A>G (p.Tyr22829Cys) c.94529A>G (p.Tyr31510Cys) c.89927A>G (p.Tyr29976Cys) c.89924A>G (p.Tyr29975Cys) c.86966A>G (p.Tyr28989Cys) c.68582A>G (p.Tyr22861Cys) c.90077A>G (p.Tyr30026Cys) c.90074A>G (p.Tyr30025Cys) c.89507A>G (p.Tyr29836Cys) c.86849A>G (p.Tyr28950Cys) c.86768A>G (p.Tyr28923Cys) c.68531A>G (p.Tyr22844Cys) c.58385A>G (p.Tyr19462Cys) | |
| 2 | g.178545474T>G | CA349459700 | TTN,TTN-AS1 | c.87932A>C (p.Tyr29311Ser) c.69017A>C (p.Tyr23006Ser) c.68816A>C (p.Tyr22939Ser) c.68441A>C (p.Tyr22814Ser) c.95636A>C (p.Tyr31879Ser) c.90713A>C (p.Tyr30238Ser) n.446+21838T>G n.2043+3113T>G c.94733A>C (p.Tyr31578Ser) c.68627A>C (p.Tyr22876Ser) c.68486A>C (p.Tyr22829Ser) c.94529A>C (p.Tyr31510Ser) c.89927A>C (p.Tyr29976Ser) c.89924A>C (p.Tyr29975Ser) c.86966A>C (p.Tyr28989Ser) c.68582A>C (p.Tyr22861Ser) c.90077A>C (p.Tyr30026Ser) c.90074A>C (p.Tyr30025Ser) c.89507A>C (p.Tyr29836Ser) c.86849A>C (p.Tyr28950Ser) c.86768A>C (p.Tyr28923Ser) c.68531A>C (p.Tyr22844Ser) c.58385A>C (p.Tyr19462Ser) | |
| 2 | g.178545475A>C | CA349459709 | TTN,TTN-AS1 | c.87931T>G (p.Tyr29311Asp) c.69016T>G (p.Tyr23006Asp) c.68815T>G (p.Tyr22939Asp) c.68440T>G (p.Tyr22814Asp) c.95635T>G (p.Tyr31879Asp) c.90712T>G (p.Tyr30238Asp) n.446+21839A>C n.2043+3114A>C c.94732T>G (p.Tyr31578Asp) c.68626T>G (p.Tyr22876Asp) c.68485T>G (p.Tyr22829Asp) c.94528T>G (p.Tyr31510Asp) c.89926T>G (p.Tyr29976Asp) c.89923T>G (p.Tyr29975Asp) c.86965T>G (p.Tyr28989Asp) c.68581T>G (p.Tyr22861Asp) c.90076T>G (p.Tyr30026Asp) c.90073T>G (p.Tyr30025Asp) c.89506T>G (p.Tyr29836Asp) c.86848T>G (p.Tyr28950Asp) c.86767T>G (p.Tyr28923Asp) c.68530T>G (p.Tyr22844Asp) c.58384T>G (p.Tyr19462Asp) | |
| 2 | g.178545475A>G | CA349459731 | TTN,TTN-AS1 | c.87931T>C (p.Tyr29311His) c.69016T>C (p.Tyr23006His) c.68815T>C (p.Tyr22939His) c.68440T>C (p.Tyr22814His) c.95635T>C (p.Tyr31879His) c.90712T>C (p.Tyr30238His) n.446+21839A>G n.2043+3114A>G c.94732T>C (p.Tyr31578His) c.68626T>C (p.Tyr22876His) c.68485T>C (p.Tyr22829His) c.94528T>C (p.Tyr31510His) c.89926T>C (p.Tyr29976His) c.89923T>C (p.Tyr29975His) c.86965T>C (p.Tyr28989His) c.68581T>C (p.Tyr22861His) c.90076T>C (p.Tyr30026His) c.90073T>C (p.Tyr30025His) c.89506T>C (p.Tyr29836His) c.86848T>C (p.Tyr28950His) c.86767T>C (p.Tyr28923His) c.68530T>C (p.Tyr22844His) c.58384T>C (p.Tyr19462His) | |
| 2 | g.178545475A>T | CA349459718 | TTN,TTN-AS1 | c.87931T>A (p.Tyr29311Asn) c.69016T>A (p.Tyr23006Asn) c.68815T>A (p.Tyr22939Asn) c.68440T>A (p.Tyr22814Asn) c.95635T>A (p.Tyr31879Asn) c.90712T>A (p.Tyr30238Asn) n.446+21839A>T n.2043+3114A>T c.94732T>A (p.Tyr31578Asn) c.68626T>A (p.Tyr22876Asn) c.68485T>A (p.Tyr22829Asn) c.94528T>A (p.Tyr31510Asn) c.89926T>A (p.Tyr29976Asn) c.89923T>A (p.Tyr29975Asn) c.86965T>A (p.Tyr28989Asn) c.68581T>A (p.Tyr22861Asn) c.90076T>A (p.Tyr30026Asn) c.90073T>A (p.Tyr30025Asn) c.89506T>A (p.Tyr29836Asn) c.86848T>A (p.Tyr28950Asn) c.86767T>A (p.Tyr28923Asn) c.68530T>A (p.Tyr22844Asn) c.58384T>A (p.Tyr19462Asn) | |
| 2 | g.178545476A= | CA1310522180 | TTN,TTN-AS1 | c.87930T= (p.Asp29310=) c.69015T= (p.Asp23005=) c.68814T= (p.Asp22938=) c.68439T= (p.Asp22813=) c.95634T= (p.Asp31878=) c.90711T= (p.Asp30237=) n.446+21840A= n.2043+3115A= c.94731T= (p.Asp31577=) c.68625T= (p.Asp22875=) c.68484T= (p.Asp22828=) c.94527T= (p.Asp31509=) c.89925T= (p.Asp29975=) c.89922T= (p.Asp29974=) c.86964T= (p.Asp28988=) c.68580T= (p.Asp22860=) c.90075T= (p.Asp30025=) c.90072T= (p.Asp30024=) c.89505T= (p.Asp29835=) c.86847T= (p.Asp28949=) c.86766T= (p.Asp28922=) c.68529T= (p.Asp22843=) c.58383T= (p.Asp19461=) | |
| 2 | g.178545476A>C | CA349459743 | TTN,TTN-AS1 | c.87930T>G (p.Asp29310Glu) c.69015T>G (p.Asp23005Glu) c.68814T>G (p.Asp22938Glu) c.68439T>G (p.Asp22813Glu) c.95634T>G (p.Asp31878Glu) c.90711T>G (p.Asp30237Glu) n.446+21840A>C n.2043+3115A>C c.94731T>G (p.Asp31577Glu) c.68625T>G (p.Asp22875Glu) c.68484T>G (p.Asp22828Glu) c.94527T>G (p.Asp31509Glu) c.89925T>G (p.Asp29975Glu) c.89922T>G (p.Asp29974Glu) c.86964T>G (p.Asp28988Glu) c.68580T>G (p.Asp22860Glu) c.90075T>G (p.Asp30025Glu) c.90072T>G (p.Asp30024Glu) c.89505T>G (p.Asp29835Glu) c.86847T>G (p.Asp28949Glu) c.86766T>G (p.Asp28922Glu) c.68529T>G (p.Asp22843Glu) c.58383T>G (p.Asp19461Glu) |