| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614650A>C | CA430273878 | TTN,TTN-AS1 | c.41160T>G (p.Pro13720=) c.22245T>G (p.Pro7415=) c.22044T>G (p.Pro7348=) c.21669T>G (p.Pro7223=) c.48864T>G (p.Pro16288=) c.43941T>G (p.Pro14647=) n.1398A>C c.47961T>G (p.Pro15987=) c.21855T>G (p.Pro7285=) c.21714T>G (p.Pro7238=) c.47757T>G (p.Pro15919=) c.43155T>G (p.Pro14385=) c.43152T>G (p.Pro14384=) c.40194T>G (p.Pro13398=) c.21810T>G (p.Pro7270=) c.43305T>G (p.Pro14435=) c.43302T>G (p.Pro14434=) c.42735T>G (p.Pro14245=) c.40077T>G (p.Pro13359=) c.39996T>G (p.Pro13332=) c.21759T>G (p.Pro7253=) c.11613T>G (p.Pro3871=) | |
| 2 | g.178614650A>G | CA430273873 | TTN,TTN-AS1 | c.41160T>C (p.Pro13720=) c.22245T>C (p.Pro7415=) c.22044T>C (p.Pro7348=) c.21669T>C (p.Pro7223=) c.48864T>C (p.Pro16288=) c.43941T>C (p.Pro14647=) n.1398A>G c.47961T>C (p.Pro15987=) c.21855T>C (p.Pro7285=) c.21714T>C (p.Pro7238=) c.47757T>C (p.Pro15919=) c.43155T>C (p.Pro14385=) c.43152T>C (p.Pro14384=) c.40194T>C (p.Pro13398=) c.21810T>C (p.Pro7270=) c.43305T>C (p.Pro14435=) c.43302T>C (p.Pro14434=) c.42735T>C (p.Pro14245=) c.40077T>C (p.Pro13359=) c.39996T>C (p.Pro13332=) c.21759T>C (p.Pro7253=) c.11613T>C (p.Pro3871=) | |
| 2 | g.178614650A>T | CA430273877 | TTN,TTN-AS1 | c.41160T>A (p.Pro13720=) c.22245T>A (p.Pro7415=) c.22044T>A (p.Pro7348=) c.21669T>A (p.Pro7223=) c.48864T>A (p.Pro16288=) c.43941T>A (p.Pro14647=) n.1398A>T c.47961T>A (p.Pro15987=) c.21855T>A (p.Pro7285=) c.21714T>A (p.Pro7238=) c.47757T>A (p.Pro15919=) c.43155T>A (p.Pro14385=) c.43152T>A (p.Pro14384=) c.40194T>A (p.Pro13398=) c.21810T>A (p.Pro7270=) c.43305T>A (p.Pro14435=) c.43302T>A (p.Pro14434=) c.42735T>A (p.Pro14245=) c.40077T>A (p.Pro13359=) c.39996T>A (p.Pro13332=) c.21759T>A (p.Pro7253=) c.11613T>A (p.Pro3871=) | ClinVar dbSNP |
| 2 | g.178614650_178614651delinsAG | CA1310549454 | TTN,TTN-AS1 | c.41159_41160delinsCT (p.Pro13720=) c.22244_22245delinsCT (p.Pro7415=) c.22043_22044delinsCT (p.Pro7348=) c.21668_21669delinsCT (p.Pro7223=) c.48863_48864delinsCT (p.Pro16288=) c.43940_43941delinsCT (p.Pro14647=) n.1398_1399delinsAG c.47960_47961delinsCT (p.Pro15987=) c.21854_21855delinsCT (p.Pro7285=) c.21713_21714delinsCT (p.Pro7238=) c.47756_47757delinsCT (p.Pro15919=) c.43154_43155delinsCT (p.Pro14385=) c.43151_43152delinsCT (p.Pro14384=) c.40193_40194delinsCT (p.Pro13398=) c.21809_21810delinsCT (p.Pro7270=) c.43304_43305delinsCT (p.Pro14435=) c.43301_43302delinsCT (p.Pro14434=) c.42734_42735delinsCT (p.Pro14245=) c.40076_40077delinsCT (p.Pro13359=) c.39995_39996delinsCT (p.Pro13332=) c.21758_21759delinsCT (p.Pro7253=) c.11612_11613delinsCT (p.Pro3871=) | |
| 2 | g.178614651G>A | CA349607676 | TTN,TTN-AS1 | c.41159C>T (p.Pro13720Leu) c.22244C>T (p.Pro7415Leu) c.22043C>T (p.Pro7348Leu) c.21668C>T (p.Pro7223Leu) c.48863C>T (p.Pro16288Leu) c.43940C>T (p.Pro14647Leu) n.1399G>A c.47960C>T (p.Pro15987Leu) c.21854C>T (p.Pro7285Leu) c.21713C>T (p.Pro7238Leu) c.47756C>T (p.Pro15919Leu) c.43154C>T (p.Pro14385Leu) c.43151C>T (p.Pro14384Leu) c.40193C>T (p.Pro13398Leu) c.21809C>T (p.Pro7270Leu) c.43304C>T (p.Pro14435Leu) c.43301C>T (p.Pro14434Leu) c.42734C>T (p.Pro14245Leu) c.40076C>T (p.Pro13359Leu) c.39995C>T (p.Pro13332Leu) c.21758C>T (p.Pro7253Leu) c.11612C>T (p.Pro3871Leu) | gnomAD v4 |
| 2 | g.178614651G>C | CA1994731 | TTN,TTN-AS1 | c.41159C>G (p.Pro13720Arg) c.22244C>G (p.Pro7415Arg) c.22043C>G (p.Pro7348Arg) c.21668C>G (p.Pro7223Arg) c.48863C>G (p.Pro16288Arg) c.43940C>G (p.Pro14647Arg) n.1399G>C c.47960C>G (p.Pro15987Arg) c.21854C>G (p.Pro7285Arg) c.21713C>G (p.Pro7238Arg) c.47756C>G (p.Pro15919Arg) c.43154C>G (p.Pro14385Arg) c.43151C>G (p.Pro14384Arg) c.40193C>G (p.Pro13398Arg) c.21809C>G (p.Pro7270Arg) c.43304C>G (p.Pro14435Arg) c.43301C>G (p.Pro14434Arg) c.42734C>G (p.Pro14245Arg) c.40076C>G (p.Pro13359Arg) c.39995C>G (p.Pro13332Arg) c.21758C>G (p.Pro7253Arg) c.11612C>G (p.Pro3871Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614651G= | CA1310549455 | TTN,TTN-AS1 | c.41159C= (p.Pro13720=) c.22244C= (p.Pro7415=) c.22043C= (p.Pro7348=) c.21668C= (p.Pro7223=) c.48863C= (p.Pro16288=) c.43940C= (p.Pro14647=) n.1399G= c.47960C= (p.Pro15987=) c.21854C= (p.Pro7285=) c.21713C= (p.Pro7238=) c.47756C= (p.Pro15919=) c.43154C= (p.Pro14385=) c.43151C= (p.Pro14384=) c.40193C= (p.Pro13398=) c.21809C= (p.Pro7270=) c.43304C= (p.Pro14435=) c.43301C= (p.Pro14434=) c.42734C= (p.Pro14245=) c.40076C= (p.Pro13359=) c.39995C= (p.Pro13332=) c.21758C= (p.Pro7253=) c.11612C= (p.Pro3871=) | |
| 2 | g.178614651G>T | CA349607680 | TTN,TTN-AS1 | c.41159C>A (p.Pro13720His) c.22244C>A (p.Pro7415His) c.22043C>A (p.Pro7348His) c.21668C>A (p.Pro7223His) c.48863C>A (p.Pro16288His) c.43940C>A (p.Pro14647His) n.1399G>T c.47960C>A (p.Pro15987His) c.21854C>A (p.Pro7285His) c.21713C>A (p.Pro7238His) c.47756C>A (p.Pro15919His) c.43154C>A (p.Pro14385His) c.43151C>A (p.Pro14384His) c.40193C>A (p.Pro13398His) c.21809C>A (p.Pro7270His) c.43304C>A (p.Pro14435His) c.43301C>A (p.Pro14434His) c.42734C>A (p.Pro14245His) c.40076C>A (p.Pro13359His) c.39995C>A (p.Pro13332His) c.21758C>A (p.Pro7253His) c.11612C>A (p.Pro3871His) | dbSNP |
| 2 | g.178614652del | CA309407 | TTN,TTN-AS1 | c.41159del (p.Pro13720LeufsTer3) c.22244del (p.Pro7415LeufsTer3) c.22043del (p.Pro7348LeufsTer3) c.21668del (p.Pro7223LeufsTer3) c.48863del (p.Pro16288LeufsTer3) c.43940del (p.Pro14647LeufsTer3) n.1400del c.47960del (p.Pro15987LeufsTer3) c.21854del (p.Pro7285LeufsTer3) c.21713del (p.Pro7238LeufsTer3) c.47756del (p.Pro15919LeufsTer3) c.43154del (p.Pro14385LeufsTer3) c.43151del (p.Pro14384LeufsTer3) c.40193del (p.Pro13398LeufsTer3) c.21809del (p.Pro7270LeufsTer3) c.43304del (p.Pro14435LeufsTer3) c.43301del (p.Pro14434LeufsTer3) c.42734del (p.Pro14245LeufsTer3) c.40076del (p.Pro13359LeufsTer3) c.39995del (p.Pro13332LeufsTer3) c.21758del (p.Pro7253LeufsTer3) c.11612del (p.Pro3871LeufsTer3) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178614652G>A | CA60987700 | TTN,TTN-AS1 | c.41158C>T (p.Pro13720Ser) c.22243C>T (p.Pro7415Ser) c.22042C>T (p.Pro7348Ser) c.21667C>T (p.Pro7223Ser) c.48862C>T (p.Pro16288Ser) c.43939C>T (p.Pro14647Ser) n.1400G>A c.47959C>T (p.Pro15987Ser) c.21853C>T (p.Pro7285Ser) c.21712C>T (p.Pro7238Ser) c.47755C>T (p.Pro15919Ser) c.43153C>T (p.Pro14385Ser) c.43150C>T (p.Pro14384Ser) c.40192C>T (p.Pro13398Ser) c.21808C>T (p.Pro7270Ser) c.43303C>T (p.Pro14435Ser) c.43300C>T (p.Pro14434Ser) c.42733C>T (p.Pro14245Ser) c.40075C>T (p.Pro13359Ser) c.39994C>T (p.Pro13332Ser) c.21757C>T (p.Pro7253Ser) c.11611C>T (p.Pro3871Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178614652G>C | CA349607683 | TTN,TTN-AS1 | c.41158C>G (p.Pro13720Ala) c.22243C>G (p.Pro7415Ala) c.22042C>G (p.Pro7348Ala) c.21667C>G (p.Pro7223Ala) c.48862C>G (p.Pro16288Ala) c.43939C>G (p.Pro14647Ala) n.1400G>C c.47959C>G (p.Pro15987Ala) c.21853C>G (p.Pro7285Ala) c.21712C>G (p.Pro7238Ala) c.47755C>G (p.Pro15919Ala) c.43153C>G (p.Pro14385Ala) c.43150C>G (p.Pro14384Ala) c.40192C>G (p.Pro13398Ala) c.21808C>G (p.Pro7270Ala) c.43303C>G (p.Pro14435Ala) c.43300C>G (p.Pro14434Ala) c.42733C>G (p.Pro14245Ala) c.40075C>G (p.Pro13359Ala) c.39994C>G (p.Pro13332Ala) c.21757C>G (p.Pro7253Ala) c.11611C>G (p.Pro3871Ala) | |
| 2 | g.178614652G= | CA1310549456 | TTN,TTN-AS1 | c.41158C= (p.Pro13720=) c.22243C= (p.Pro7415=) c.22042C= (p.Pro7348=) c.21667C= (p.Pro7223=) c.48862C= (p.Pro16288=) c.43939C= (p.Pro14647=) n.1400G= c.47959C= (p.Pro15987=) c.21853C= (p.Pro7285=) c.21712C= (p.Pro7238=) c.47755C= (p.Pro15919=) c.43153C= (p.Pro14385=) c.43150C= (p.Pro14384=) c.40192C= (p.Pro13398=) c.21808C= (p.Pro7270=) c.43303C= (p.Pro14435=) c.43300C= (p.Pro14434=) c.42733C= (p.Pro14245=) c.40075C= (p.Pro13359=) c.39994C= (p.Pro13332=) c.21757C= (p.Pro7253=) c.11611C= (p.Pro3871=) | |
| 2 | g.178614652G>T | CA349607685 | TTN,TTN-AS1 | c.41158C>A (p.Pro13720Thr) c.22243C>A (p.Pro7415Thr) c.22042C>A (p.Pro7348Thr) c.21667C>A (p.Pro7223Thr) c.48862C>A (p.Pro16288Thr) c.43939C>A (p.Pro14647Thr) n.1400G>T c.47959C>A (p.Pro15987Thr) c.21853C>A (p.Pro7285Thr) c.21712C>A (p.Pro7238Thr) c.47755C>A (p.Pro15919Thr) c.43153C>A (p.Pro14385Thr) c.43150C>A (p.Pro14384Thr) c.40192C>A (p.Pro13398Thr) c.21808C>A (p.Pro7270Thr) c.43303C>A (p.Pro14435Thr) c.43300C>A (p.Pro14434Thr) c.42733C>A (p.Pro14245Thr) c.40075C>A (p.Pro13359Thr) c.39994C>A (p.Pro13332Thr) c.21757C>A (p.Pro7253Thr) c.11611C>A (p.Pro3871Thr) | |
| 2 | g.178614653T>A | CA349607688 | TTN,TTN-AS1 | c.41157A>T (p.Glu13719Asp) c.22242A>T (p.Glu7414Asp) c.22041A>T (p.Glu7347Asp) c.21666A>T (p.Glu7222Asp) c.48861A>T (p.Glu16287Asp) c.43938A>T (p.Glu14646Asp) n.1401T>A c.47958A>T (p.Glu15986Asp) c.21852A>T (p.Glu7284Asp) c.21711A>T (p.Glu7237Asp) c.47754A>T (p.Glu15918Asp) c.43152A>T (p.Glu14384Asp) c.43149A>T (p.Glu14383Asp) c.40191A>T (p.Glu13397Asp) c.21807A>T (p.Glu7269Asp) c.43302A>T (p.Glu14434Asp) c.43299A>T (p.Glu14433Asp) c.42732A>T (p.Glu14244Asp) c.40074A>T (p.Glu13358Asp) c.39993A>T (p.Glu13331Asp) c.21756A>T (p.Glu7252Asp) c.11610A>T (p.Glu3870Asp) | |
| 2 | g.178614653T>C | CA430273895 | TTN,TTN-AS1 | c.41157A>G (p.Glu13719=) c.22242A>G (p.Glu7414=) c.22041A>G (p.Glu7347=) c.21666A>G (p.Glu7222=) c.48861A>G (p.Glu16287=) c.43938A>G (p.Glu14646=) n.1401T>C c.47958A>G (p.Glu15986=) c.21852A>G (p.Glu7284=) c.21711A>G (p.Glu7237=) c.47754A>G (p.Glu15918=) c.43152A>G (p.Glu14384=) c.43149A>G (p.Glu14383=) c.40191A>G (p.Glu13397=) c.21807A>G (p.Glu7269=) c.43302A>G (p.Glu14434=) c.43299A>G (p.Glu14433=) c.42732A>G (p.Glu14244=) c.40074A>G (p.Glu13358=) c.39993A>G (p.Glu13331=) c.21756A>G (p.Glu7252=) c.11610A>G (p.Glu3870=) | |
| 2 | g.178614653T>G | CA349607689 | TTN,TTN-AS1 | c.41157A>C (p.Glu13719Asp) c.22242A>C (p.Glu7414Asp) c.22041A>C (p.Glu7347Asp) c.21666A>C (p.Glu7222Asp) c.48861A>C (p.Glu16287Asp) c.43938A>C (p.Glu14646Asp) n.1401T>G c.47958A>C (p.Glu15986Asp) c.21852A>C (p.Glu7284Asp) c.21711A>C (p.Glu7237Asp) c.47754A>C (p.Glu15918Asp) c.43152A>C (p.Glu14384Asp) c.43149A>C (p.Glu14383Asp) c.40191A>C (p.Glu13397Asp) c.21807A>C (p.Glu7269Asp) c.43302A>C (p.Glu14434Asp) c.43299A>C (p.Glu14433Asp) c.42732A>C (p.Glu14244Asp) c.40074A>C (p.Glu13358Asp) c.39993A>C (p.Glu13331Asp) c.21756A>C (p.Glu7252Asp) c.11610A>C (p.Glu3870Asp) | |
| 2 | g.178614654T>A | CA349607691 | TTN,TTN-AS1 | c.41156A>T (p.Glu13719Val) c.22241A>T (p.Glu7414Val) c.22040A>T (p.Glu7347Val) c.21665A>T (p.Glu7222Val) c.48860A>T (p.Glu16287Val) c.43937A>T (p.Glu14646Val) n.1402T>A c.47957A>T (p.Glu15986Val) c.21851A>T (p.Glu7284Val) c.21710A>T (p.Glu7237Val) c.47753A>T (p.Glu15918Val) c.43151A>T (p.Glu14384Val) c.43148A>T (p.Glu14383Val) c.40190A>T (p.Glu13397Val) c.21806A>T (p.Glu7269Val) c.43301A>T (p.Glu14434Val) c.43298A>T (p.Glu14433Val) c.42731A>T (p.Glu14244Val) c.40073A>T (p.Glu13358Val) c.39992A>T (p.Glu13331Val) c.21755A>T (p.Glu7252Val) c.11609A>T (p.Glu3870Val) | |
| 2 | g.178614654T>C | CA349607692 | TTN,TTN-AS1 | c.41156A>G (p.Glu13719Gly) c.22241A>G (p.Glu7414Gly) c.22040A>G (p.Glu7347Gly) c.21665A>G (p.Glu7222Gly) c.48860A>G (p.Glu16287Gly) c.43937A>G (p.Glu14646Gly) n.1402T>C c.47957A>G (p.Glu15986Gly) c.21851A>G (p.Glu7284Gly) c.21710A>G (p.Glu7237Gly) c.47753A>G (p.Glu15918Gly) c.43151A>G (p.Glu14384Gly) c.43148A>G (p.Glu14383Gly) c.40190A>G (p.Glu13397Gly) c.21806A>G (p.Glu7269Gly) c.43301A>G (p.Glu14434Gly) c.43298A>G (p.Glu14433Gly) c.42731A>G (p.Glu14244Gly) c.40073A>G (p.Glu13358Gly) c.39992A>G (p.Glu13331Gly) c.21755A>G (p.Glu7252Gly) c.11609A>G (p.Glu3870Gly) | |
| 2 | g.178614654T>G | CA349607693 | TTN,TTN-AS1 | c.41156A>C (p.Glu13719Ala) c.22241A>C (p.Glu7414Ala) c.22040A>C (p.Glu7347Ala) c.21665A>C (p.Glu7222Ala) c.48860A>C (p.Glu16287Ala) c.43937A>C (p.Glu14646Ala) n.1402T>G c.47957A>C (p.Glu15986Ala) c.21851A>C (p.Glu7284Ala) c.21710A>C (p.Glu7237Ala) c.47753A>C (p.Glu15918Ala) c.43151A>C (p.Glu14384Ala) c.43148A>C (p.Glu14383Ala) c.40190A>C (p.Glu13397Ala) c.21806A>C (p.Glu7269Ala) c.43301A>C (p.Glu14434Ala) c.43298A>C (p.Glu14433Ala) c.42731A>C (p.Glu14244Ala) c.40073A>C (p.Glu13358Ala) c.39992A>C (p.Glu13331Ala) c.21755A>C (p.Glu7252Ala) c.11609A>C (p.Glu3870Ala) | |
| 2 | g.178614655C>A | CA349607697 | TTN,TTN-AS1 | c.41155G>T (p.Glu13719Ter) c.22240G>T (p.Glu7414Ter) c.22039G>T (p.Glu7347Ter) c.21664G>T (p.Glu7222Ter) c.48859G>T (p.Glu16287Ter) c.43936G>T (p.Glu14646Ter) n.1403C>A c.47956G>T (p.Glu15986Ter) c.21850G>T (p.Glu7284Ter) c.21709G>T (p.Glu7237Ter) c.47752G>T (p.Glu15918Ter) c.43150G>T (p.Glu14384Ter) c.43147G>T (p.Glu14383Ter) c.40189G>T (p.Glu13397Ter) c.21805G>T (p.Glu7269Ter) c.43300G>T (p.Glu14434Ter) c.43297G>T (p.Glu14433Ter) c.42730G>T (p.Glu14244Ter) c.40072G>T (p.Glu13358Ter) c.39991G>T (p.Glu13331Ter) c.21754G>T (p.Glu7252Ter) c.11608G>T (p.Glu3870Ter) | |
| 2 | g.178614655C>G | CA349607696 | TTN,TTN-AS1 | c.41155G>C (p.Glu13719Gln) c.22240G>C (p.Glu7414Gln) c.22039G>C (p.Glu7347Gln) c.21664G>C (p.Glu7222Gln) c.48859G>C (p.Glu16287Gln) c.43936G>C (p.Glu14646Gln) n.1403C>G c.47956G>C (p.Glu15986Gln) c.21850G>C (p.Glu7284Gln) c.21709G>C (p.Glu7237Gln) c.47752G>C (p.Glu15918Gln) c.43150G>C (p.Glu14384Gln) c.43147G>C (p.Glu14383Gln) c.40189G>C (p.Glu13397Gln) c.21805G>C (p.Glu7269Gln) c.43300G>C (p.Glu14434Gln) c.43297G>C (p.Glu14433Gln) c.42730G>C (p.Glu14244Gln) c.40072G>C (p.Glu13358Gln) c.39991G>C (p.Glu13331Gln) c.21754G>C (p.Glu7252Gln) c.11608G>C (p.Glu3870Gln) | |
| 2 | g.178614655C>T | CA349607695 | TTN,TTN-AS1 | c.41155G>A (p.Glu13719Lys) c.22240G>A (p.Glu7414Lys) c.22039G>A (p.Glu7347Lys) c.21664G>A (p.Glu7222Lys) c.48859G>A (p.Glu16287Lys) c.43936G>A (p.Glu14646Lys) n.1403C>T c.47956G>A (p.Glu15986Lys) c.21850G>A (p.Glu7284Lys) c.21709G>A (p.Glu7237Lys) c.47752G>A (p.Glu15918Lys) c.43150G>A (p.Glu14384Lys) c.43147G>A (p.Glu14383Lys) c.40189G>A (p.Glu13397Lys) c.21805G>A (p.Glu7269Lys) c.43300G>A (p.Glu14434Lys) c.43297G>A (p.Glu14433Lys) c.42730G>A (p.Glu14244Lys) c.40072G>A (p.Glu13358Lys) c.39991G>A (p.Glu13331Lys) c.21754G>A (p.Glu7252Lys) c.11608G>A (p.Glu3870Lys) | gnomAD v4 |
| 2 | g.178614656A= | CA1310549457 | TTN,TTN-AS1 | c.41154T= (p.Pro13718=) c.22239T= (p.Pro7413=) c.22038T= (p.Pro7346=) c.21663T= (p.Pro7221=) c.48858T= (p.Pro16286=) c.43935T= (p.Pro14645=) n.1404A= c.47955T= (p.Pro15985=) c.21849T= (p.Pro7283=) c.21708T= (p.Pro7236=) c.47751T= (p.Pro15917=) c.43149T= (p.Pro14383=) c.43146T= (p.Pro14382=) c.40188T= (p.Pro13396=) c.21804T= (p.Pro7268=) c.43299T= (p.Pro14433=) c.43296T= (p.Pro14432=) c.42729T= (p.Pro14243=) c.40071T= (p.Pro13357=) c.39990T= (p.Pro13330=) c.21753T= (p.Pro7251=) c.11607T= (p.Pro3869=) | |
| 2 | g.178614656A>C | CA430273910 | TTN,TTN-AS1 | c.41154T>G (p.Pro13718=) c.22239T>G (p.Pro7413=) c.22038T>G (p.Pro7346=) c.21663T>G (p.Pro7221=) c.48858T>G (p.Pro16286=) c.43935T>G (p.Pro14645=) n.1404A>C c.47955T>G (p.Pro15985=) c.21849T>G (p.Pro7283=) c.21708T>G (p.Pro7236=) c.47751T>G (p.Pro15917=) c.43149T>G (p.Pro14383=) c.43146T>G (p.Pro14382=) c.40188T>G (p.Pro13396=) c.21804T>G (p.Pro7268=) c.43299T>G (p.Pro14433=) c.43296T>G (p.Pro14432=) c.42729T>G (p.Pro14243=) c.40071T>G (p.Pro13357=) c.39990T>G (p.Pro13330=) c.21753T>G (p.Pro7251=) c.11607T>G (p.Pro3869=) | |
| 2 | g.178614656A>G | CA1994732 | TTN,TTN-AS1 | c.41154T>C (p.Pro13718=) c.22239T>C (p.Pro7413=) c.22038T>C (p.Pro7346=) c.21663T>C (p.Pro7221=) c.48858T>C (p.Pro16286=) c.43935T>C (p.Pro14645=) n.1404A>G c.47955T>C (p.Pro15985=) c.21849T>C (p.Pro7283=) c.21708T>C (p.Pro7236=) c.47751T>C (p.Pro15917=) c.43149T>C (p.Pro14383=) c.43146T>C (p.Pro14382=) c.40188T>C (p.Pro13396=) c.21804T>C (p.Pro7268=) c.43299T>C (p.Pro14433=) c.43296T>C (p.Pro14432=) c.42729T>C (p.Pro14243=) c.40071T>C (p.Pro13357=) c.39990T>C (p.Pro13330=) c.21753T>C (p.Pro7251=) c.11607T>C (p.Pro3869=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178614656A>T | CA430273913 | TTN,TTN-AS1 | c.41154T>A (p.Pro13718=) c.22239T>A (p.Pro7413=) c.22038T>A (p.Pro7346=) c.21663T>A (p.Pro7221=) c.48858T>A (p.Pro16286=) c.43935T>A (p.Pro14645=) n.1404A>T c.47955T>A (p.Pro15985=) c.21849T>A (p.Pro7283=) c.21708T>A (p.Pro7236=) c.47751T>A (p.Pro15917=) c.43149T>A (p.Pro14383=) c.43146T>A (p.Pro14382=) c.40188T>A (p.Pro13396=) c.21804T>A (p.Pro7268=) c.43299T>A (p.Pro14433=) c.43296T>A (p.Pro14432=) c.42729T>A (p.Pro14243=) c.40071T>A (p.Pro13357=) c.39990T>A (p.Pro13330=) c.21753T>A (p.Pro7251=) c.11607T>A (p.Pro3869=) | |
| 2 | g.178614657G>A | CA349607699 | TTN,TTN-AS1 | c.41153C>T (p.Pro13718Leu) c.22238C>T (p.Pro7413Leu) c.22037C>T (p.Pro7346Leu) c.21662C>T (p.Pro7221Leu) c.48857C>T (p.Pro16286Leu) c.43934C>T (p.Pro14645Leu) n.1405G>A c.47954C>T (p.Pro15985Leu) c.21848C>T (p.Pro7283Leu) c.21707C>T (p.Pro7236Leu) c.47750C>T (p.Pro15917Leu) c.43148C>T (p.Pro14383Leu) c.43145C>T (p.Pro14382Leu) c.40187C>T (p.Pro13396Leu) c.21803C>T (p.Pro7268Leu) c.43298C>T (p.Pro14433Leu) c.43295C>T (p.Pro14432Leu) c.42728C>T (p.Pro14243Leu) c.40070C>T (p.Pro13357Leu) c.39989C>T (p.Pro13330Leu) c.21752C>T (p.Pro7251Leu) c.11606C>T (p.Pro3869Leu) | |
| 2 | g.178614657G>C | CA349607701 | TTN,TTN-AS1 | c.41153C>G (p.Pro13718Arg) c.22238C>G (p.Pro7413Arg) c.22037C>G (p.Pro7346Arg) c.21662C>G (p.Pro7221Arg) c.48857C>G (p.Pro16286Arg) c.43934C>G (p.Pro14645Arg) n.1405G>C c.47954C>G (p.Pro15985Arg) c.21848C>G (p.Pro7283Arg) c.21707C>G (p.Pro7236Arg) c.47750C>G (p.Pro15917Arg) c.43148C>G (p.Pro14383Arg) c.43145C>G (p.Pro14382Arg) c.40187C>G (p.Pro13396Arg) c.21803C>G (p.Pro7268Arg) c.43298C>G (p.Pro14433Arg) c.43295C>G (p.Pro14432Arg) c.42728C>G (p.Pro14243Arg) c.40070C>G (p.Pro13357Arg) c.39989C>G (p.Pro13330Arg) c.21752C>G (p.Pro7251Arg) c.11606C>G (p.Pro3869Arg) | |
| 2 | g.178614657G>T | CA349607703 | TTN,TTN-AS1 | c.41153C>A (p.Pro13718His) c.22238C>A (p.Pro7413His) c.22037C>A (p.Pro7346His) c.21662C>A (p.Pro7221His) c.48857C>A (p.Pro16286His) c.43934C>A (p.Pro14645His) n.1405G>T c.47954C>A (p.Pro15985His) c.21848C>A (p.Pro7283His) c.21707C>A (p.Pro7236His) c.47750C>A (p.Pro15917His) c.43148C>A (p.Pro14383His) c.43145C>A (p.Pro14382His) c.40187C>A (p.Pro13396His) c.21803C>A (p.Pro7268His) c.43298C>A (p.Pro14433His) c.43295C>A (p.Pro14432His) c.42728C>A (p.Pro14243His) c.40070C>A (p.Pro13357His) c.39989C>A (p.Pro13330His) c.21752C>A (p.Pro7251His) c.11606C>A (p.Pro3869His) | |
| 2 | g.178614658G>A | CA349607706 | TTN,TTN-AS1 | c.41152C>T (p.Pro13718Ser) c.22237C>T (p.Pro7413Ser) c.22036C>T (p.Pro7346Ser) c.21661C>T (p.Pro7221Ser) c.48856C>T (p.Pro16286Ser) c.43933C>T (p.Pro14645Ser) n.1406G>A c.47953C>T (p.Pro15985Ser) c.21847C>T (p.Pro7283Ser) c.21706C>T (p.Pro7236Ser) c.47749C>T (p.Pro15917Ser) c.43147C>T (p.Pro14383Ser) c.43144C>T (p.Pro14382Ser) c.40186C>T (p.Pro13396Ser) c.21802C>T (p.Pro7268Ser) c.43297C>T (p.Pro14433Ser) c.43294C>T (p.Pro14432Ser) c.42727C>T (p.Pro14243Ser) c.40069C>T (p.Pro13357Ser) c.39988C>T (p.Pro13330Ser) c.21751C>T (p.Pro7251Ser) c.11605C>T (p.Pro3869Ser) | |
| 2 | g.178614658G>C | CA349607708 | TTN,TTN-AS1 | c.41152C>G (p.Pro13718Ala) c.22237C>G (p.Pro7413Ala) c.22036C>G (p.Pro7346Ala) c.21661C>G (p.Pro7221Ala) c.48856C>G (p.Pro16286Ala) c.43933C>G (p.Pro14645Ala) n.1406G>C c.47953C>G (p.Pro15985Ala) c.21847C>G (p.Pro7283Ala) c.21706C>G (p.Pro7236Ala) c.47749C>G (p.Pro15917Ala) c.43147C>G (p.Pro14383Ala) c.43144C>G (p.Pro14382Ala) c.40186C>G (p.Pro13396Ala) c.21802C>G (p.Pro7268Ala) c.43297C>G (p.Pro14433Ala) c.43294C>G (p.Pro14432Ala) c.42727C>G (p.Pro14243Ala) c.40069C>G (p.Pro13357Ala) c.39988C>G (p.Pro13330Ala) c.21751C>G (p.Pro7251Ala) c.11605C>G (p.Pro3869Ala) | |
| 2 | g.178614658G= | CA1310549458 | TTN,TTN-AS1 | c.41152C= (p.Pro13718=) c.22237C= (p.Pro7413=) c.22036C= (p.Pro7346=) c.21661C= (p.Pro7221=) c.48856C= (p.Pro16286=) c.43933C= (p.Pro14645=) n.1406G= c.47953C= (p.Pro15985=) c.21847C= (p.Pro7283=) c.21706C= (p.Pro7236=) c.47749C= (p.Pro15917=) c.43147C= (p.Pro14383=) c.43144C= (p.Pro14382=) c.40186C= (p.Pro13396=) c.21802C= (p.Pro7268=) c.43297C= (p.Pro14433=) c.43294C= (p.Pro14432=) c.42727C= (p.Pro14243=) c.40069C= (p.Pro13357=) c.39988C= (p.Pro13330=) c.21751C= (p.Pro7251=) c.11605C= (p.Pro3869=) | |
| 2 | g.178614658G>T | CA60987701 | TTN,TTN-AS1 | c.41152C>A (p.Pro13718Thr) c.22237C>A (p.Pro7413Thr) c.22036C>A (p.Pro7346Thr) c.21661C>A (p.Pro7221Thr) c.48856C>A (p.Pro16286Thr) c.43933C>A (p.Pro14645Thr) n.1406G>T c.47953C>A (p.Pro15985Thr) c.21847C>A (p.Pro7283Thr) c.21706C>A (p.Pro7236Thr) c.47749C>A (p.Pro15917Thr) c.43147C>A (p.Pro14383Thr) c.43144C>A (p.Pro14382Thr) c.40186C>A (p.Pro13396Thr) c.21802C>A (p.Pro7268Thr) c.43297C>A (p.Pro14433Thr) c.43294C>A (p.Pro14432Thr) c.42727C>A (p.Pro14243Thr) c.40069C>A (p.Pro13357Thr) c.39988C>A (p.Pro13330Thr) c.21751C>A (p.Pro7251Thr) c.11605C>A (p.Pro3869Thr) | dbSNP gnomAD v4 |
| 2 | g.178614659T>A | CA349607713 | TTN,TTN-AS1 | c.41151A>T (p.Lys13717Asn) c.22236A>T (p.Lys7412Asn) c.22035A>T (p.Lys7345Asn) c.21660A>T (p.Lys7220Asn) c.48855A>T (p.Lys16285Asn) c.43932A>T (p.Lys14644Asn) n.1407T>A c.47952A>T (p.Lys15984Asn) c.21846A>T (p.Lys7282Asn) c.21705A>T (p.Lys7235Asn) c.47748A>T (p.Lys15916Asn) c.43146A>T (p.Lys14382Asn) c.43143A>T (p.Lys14381Asn) c.40185A>T (p.Lys13395Asn) c.21801A>T (p.Lys7267Asn) c.43296A>T (p.Lys14432Asn) c.43293A>T (p.Lys14431Asn) c.42726A>T (p.Lys14242Asn) c.40068A>T (p.Lys13356Asn) c.39987A>T (p.Lys13329Asn) c.21750A>T (p.Lys7250Asn) c.11604A>T (p.Lys3868Asn) | |
| 2 | g.178614659T>C | CA430103947 | TTN,TTN-AS1 | c.41151A>G (p.Lys13717=) c.22236A>G (p.Lys7412=) c.22035A>G (p.Lys7345=) c.21660A>G (p.Lys7220=) c.48855A>G (p.Lys16285=) c.43932A>G (p.Lys14644=) n.1407T>C c.47952A>G (p.Lys15984=) c.21846A>G (p.Lys7282=) c.21705A>G (p.Lys7235=) c.47748A>G (p.Lys15916=) c.43146A>G (p.Lys14382=) c.43143A>G (p.Lys14381=) c.40185A>G (p.Lys13395=) c.21801A>G (p.Lys7267=) c.43296A>G (p.Lys14432=) c.43293A>G (p.Lys14431=) c.42726A>G (p.Lys14242=) c.40068A>G (p.Lys13356=) c.39987A>G (p.Lys13329=) c.21750A>G (p.Lys7250=) c.11604A>G (p.Lys3868=) | |
| 2 | g.178614659T>G | CA349607711 | TTN,TTN-AS1 | c.41151A>C (p.Lys13717Asn) c.22236A>C (p.Lys7412Asn) c.22035A>C (p.Lys7345Asn) c.21660A>C (p.Lys7220Asn) c.48855A>C (p.Lys16285Asn) c.43932A>C (p.Lys14644Asn) n.1407T>G c.47952A>C (p.Lys15984Asn) c.21846A>C (p.Lys7282Asn) c.21705A>C (p.Lys7235Asn) c.47748A>C (p.Lys15916Asn) c.43146A>C (p.Lys14382Asn) c.43143A>C (p.Lys14381Asn) c.40185A>C (p.Lys13395Asn) c.21801A>C (p.Lys7267Asn) c.43296A>C (p.Lys14432Asn) c.43293A>C (p.Lys14431Asn) c.42726A>C (p.Lys14242Asn) c.40068A>C (p.Lys13356Asn) c.39987A>C (p.Lys13329Asn) c.21750A>C (p.Lys7250Asn) c.11604A>C (p.Lys3868Asn) | |
| 2 | g.178614660T>A | CA349607715 | TTN,TTN-AS1 | c.41150A>T (p.Lys13717Ile) c.22235A>T (p.Lys7412Ile) c.22034A>T (p.Lys7345Ile) c.21659A>T (p.Lys7220Ile) c.48854A>T (p.Lys16285Ile) c.43931A>T (p.Lys14644Ile) n.1408T>A c.47951A>T (p.Lys15984Ile) c.21845A>T (p.Lys7282Ile) c.21704A>T (p.Lys7235Ile) c.47747A>T (p.Lys15916Ile) c.43145A>T (p.Lys14382Ile) c.43142A>T (p.Lys14381Ile) c.40184A>T (p.Lys13395Ile) c.21800A>T (p.Lys7267Ile) c.43295A>T (p.Lys14432Ile) c.43292A>T (p.Lys14431Ile) c.42725A>T (p.Lys14242Ile) c.40067A>T (p.Lys13356Ile) c.39986A>T (p.Lys13329Ile) c.21749A>T (p.Lys7250Ile) c.11603A>T (p.Lys3868Ile) | |
| 2 | g.178614660T>C | CA349607717 | TTN,TTN-AS1 | c.41150A>G (p.Lys13717Arg) c.22235A>G (p.Lys7412Arg) c.22034A>G (p.Lys7345Arg) c.21659A>G (p.Lys7220Arg) c.48854A>G (p.Lys16285Arg) c.43931A>G (p.Lys14644Arg) n.1408T>C c.47951A>G (p.Lys15984Arg) c.21845A>G (p.Lys7282Arg) c.21704A>G (p.Lys7235Arg) c.47747A>G (p.Lys15916Arg) c.43145A>G (p.Lys14382Arg) c.43142A>G (p.Lys14381Arg) c.40184A>G (p.Lys13395Arg) c.21800A>G (p.Lys7267Arg) c.43295A>G (p.Lys14432Arg) c.43292A>G (p.Lys14431Arg) c.42725A>G (p.Lys14242Arg) c.40067A>G (p.Lys13356Arg) c.39986A>G (p.Lys13329Arg) c.21749A>G (p.Lys7250Arg) c.11603A>G (p.Lys3868Arg) | |
| 2 | g.178614660T>G | CA349607718 | TTN,TTN-AS1 | c.41150A>C (p.Lys13717Thr) c.22235A>C (p.Lys7412Thr) c.22034A>C (p.Lys7345Thr) c.21659A>C (p.Lys7220Thr) c.48854A>C (p.Lys16285Thr) c.43931A>C (p.Lys14644Thr) n.1408T>G c.47951A>C (p.Lys15984Thr) c.21845A>C (p.Lys7282Thr) c.21704A>C (p.Lys7235Thr) c.47747A>C (p.Lys15916Thr) c.43145A>C (p.Lys14382Thr) c.43142A>C (p.Lys14381Thr) c.40184A>C (p.Lys13395Thr) c.21800A>C (p.Lys7267Thr) c.43295A>C (p.Lys14432Thr) c.43292A>C (p.Lys14431Thr) c.42725A>C (p.Lys14242Thr) c.40067A>C (p.Lys13356Thr) c.39986A>C (p.Lys13329Thr) c.21749A>C (p.Lys7250Thr) c.11603A>C (p.Lys3868Thr) | |
| 2 | g.178614660_178614669del | CA2973049244 | TTN,TTN-AS1 | c.41141_41150del (p.Val13714AspfsTer6) c.22226_22235del (p.Val7409AspfsTer6) c.22025_22034del (p.Val7342AspfsTer6) c.21650_21659del (p.Val7217AspfsTer6) c.48845_48854del (p.Val16282AspfsTer6) c.43922_43931del (p.Val14641AspfsTer6) n.1408_1417del c.47942_47951del (p.Val15981AspfsTer6) c.21836_21845del (p.Val7279AspfsTer6) c.21695_21704del (p.Val7232AspfsTer6) c.47738_47747del (p.Val15913AspfsTer6) c.43136_43145del (p.Val14379AspfsTer6) c.43133_43142del (p.Val14378AspfsTer6) c.40175_40184del (p.Val13392AspfsTer6) c.21791_21800del (p.Val7264AspfsTer6) c.43286_43295del (p.Val14429AspfsTer6) c.43283_43292del (p.Val14428AspfsTer6) c.42716_42725del (p.Val14239AspfsTer6) c.40058_40067del (p.Val13353AspfsTer6) c.39977_39986del (p.Val13326AspfsTer6) c.21740_21749del (p.Val7247AspfsTer6) c.11594_11603del (p.Val3865AspfsTer6) | |
| 2 | g.178614661T>A | CA349607720 | TTN,TTN-AS1 | c.41149A>T (p.Lys13717Ter) c.22234A>T (p.Lys7412Ter) c.22033A>T (p.Lys7345Ter) c.21658A>T (p.Lys7220Ter) c.48853A>T (p.Lys16285Ter) c.43930A>T (p.Lys14644Ter) n.1409T>A c.47950A>T (p.Lys15984Ter) c.21844A>T (p.Lys7282Ter) c.21703A>T (p.Lys7235Ter) c.47746A>T (p.Lys15916Ter) c.43144A>T (p.Lys14382Ter) c.43141A>T (p.Lys14381Ter) c.40183A>T (p.Lys13395Ter) c.21799A>T (p.Lys7267Ter) c.43294A>T (p.Lys14432Ter) c.43291A>T (p.Lys14431Ter) c.42724A>T (p.Lys14242Ter) c.40066A>T (p.Lys13356Ter) c.39985A>T (p.Lys13329Ter) c.21748A>T (p.Lys7250Ter) c.11602A>T (p.Lys3868Ter) | |
| 2 | g.178614661T>C | CA349607723 | TTN,TTN-AS1 | c.41149A>G (p.Lys13717Glu) c.22234A>G (p.Lys7412Glu) c.22033A>G (p.Lys7345Glu) c.21658A>G (p.Lys7220Glu) c.48853A>G (p.Lys16285Glu) c.43930A>G (p.Lys14644Glu) n.1409T>C c.47950A>G (p.Lys15984Glu) c.21844A>G (p.Lys7282Glu) c.21703A>G (p.Lys7235Glu) c.47746A>G (p.Lys15916Glu) c.43144A>G (p.Lys14382Glu) c.43141A>G (p.Lys14381Glu) c.40183A>G (p.Lys13395Glu) c.21799A>G (p.Lys7267Glu) c.43294A>G (p.Lys14432Glu) c.43291A>G (p.Lys14431Glu) c.42724A>G (p.Lys14242Glu) c.40066A>G (p.Lys13356Glu) c.39985A>G (p.Lys13329Glu) c.21748A>G (p.Lys7250Glu) c.11602A>G (p.Lys3868Glu) | |
| 2 | g.178614661T>G | CA1994733 | TTN,TTN-AS1 | c.41149A>C (p.Lys13717Gln) c.22234A>C (p.Lys7412Gln) c.22033A>C (p.Lys7345Gln) c.21658A>C (p.Lys7220Gln) c.48853A>C (p.Lys16285Gln) c.43930A>C (p.Lys14644Gln) n.1409T>G c.47950A>C (p.Lys15984Gln) c.21844A>C (p.Lys7282Gln) c.21703A>C (p.Lys7235Gln) c.47746A>C (p.Lys15916Gln) c.43144A>C (p.Lys14382Gln) c.43141A>C (p.Lys14381Gln) c.40183A>C (p.Lys13395Gln) c.21799A>C (p.Lys7267Gln) c.43294A>C (p.Lys14432Gln) c.43291A>C (p.Lys14431Gln) c.42724A>C (p.Lys14242Gln) c.40066A>C (p.Lys13356Gln) c.39985A>C (p.Lys13329Gln) c.21748A>C (p.Lys7250Gln) c.11602A>C (p.Lys3868Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178614661T= | CA1310549459 | TTN,TTN-AS1 | c.41149A= (p.Lys13717=) c.22234A= (p.Lys7412=) c.22033A= (p.Lys7345=) c.21658A= (p.Lys7220=) c.48853A= (p.Lys16285=) c.43930A= (p.Lys14644=) n.1409T= c.47950A= (p.Lys15984=) c.21844A= (p.Lys7282=) c.21703A= (p.Lys7235=) c.47746A= (p.Lys15916=) c.43144A= (p.Lys14382=) c.43141A= (p.Lys14381=) c.40183A= (p.Lys13395=) c.21799A= (p.Lys7267=) c.43294A= (p.Lys14432=) c.43291A= (p.Lys14431=) c.42724A= (p.Lys14242=) c.40066A= (p.Lys13356=) c.39985A= (p.Lys13329=) c.21748A= (p.Lys7250=) c.11602A= (p.Lys3868=) | |
| 2 | g.178614662T>A | CA430103951 | TTN,TTN-AS1 | c.41148A>T (p.Gly13716=) c.22233A>T (p.Gly7411=) c.22032A>T (p.Gly7344=) c.21657A>T (p.Gly7219=) c.48852A>T (p.Gly16284=) c.43929A>T (p.Gly14643=) n.1410T>A c.47949A>T (p.Gly15983=) c.21843A>T (p.Gly7281=) c.21702A>T (p.Gly7234=) c.47745A>T (p.Gly15915=) c.43143A>T (p.Gly14381=) c.43140A>T (p.Gly14380=) c.40182A>T (p.Gly13394=) c.21798A>T (p.Gly7266=) c.43293A>T (p.Gly14431=) c.43290A>T (p.Gly14430=) c.42723A>T (p.Gly14241=) c.40065A>T (p.Gly13355=) c.39984A>T (p.Gly13328=) c.21747A>T (p.Gly7249=) c.11601A>T (p.Gly3867=) | |
| 2 | g.178614662T>C | CA430103955 | TTN,TTN-AS1 | c.41148A>G (p.Gly13716=) c.22233A>G (p.Gly7411=) c.22032A>G (p.Gly7344=) c.21657A>G (p.Gly7219=) c.48852A>G (p.Gly16284=) c.43929A>G (p.Gly14643=) n.1410T>C c.47949A>G (p.Gly15983=) c.21843A>G (p.Gly7281=) c.21702A>G (p.Gly7234=) c.47745A>G (p.Gly15915=) c.43143A>G (p.Gly14381=) c.43140A>G (p.Gly14380=) c.40182A>G (p.Gly13394=) c.21798A>G (p.Gly7266=) c.43293A>G (p.Gly14431=) c.43290A>G (p.Gly14430=) c.42723A>G (p.Gly14241=) c.40065A>G (p.Gly13355=) c.39984A>G (p.Gly13328=) c.21747A>G (p.Gly7249=) c.11601A>G (p.Gly3867=) | |
| 2 | g.178614662T>G | CA430103953 | TTN,TTN-AS1 | c.41148A>C (p.Gly13716=) c.22233A>C (p.Gly7411=) c.22032A>C (p.Gly7344=) c.21657A>C (p.Gly7219=) c.48852A>C (p.Gly16284=) c.43929A>C (p.Gly14643=) n.1410T>G c.47949A>C (p.Gly15983=) c.21843A>C (p.Gly7281=) c.21702A>C (p.Gly7234=) c.47745A>C (p.Gly15915=) c.43143A>C (p.Gly14381=) c.43140A>C (p.Gly14380=) c.40182A>C (p.Gly13394=) c.21798A>C (p.Gly7266=) c.43293A>C (p.Gly14431=) c.43290A>C (p.Gly14430=) c.42723A>C (p.Gly14241=) c.40065A>C (p.Gly13355=) c.39984A>C (p.Gly13328=) c.21747A>C (p.Gly7249=) c.11601A>C (p.Gly3867=) | |
| 2 | g.178614663C>A | CA349607728 | TTN,TTN-AS1 | c.41147G>T (p.Gly13716Val) c.22232G>T (p.Gly7411Val) c.22031G>T (p.Gly7344Val) c.21656G>T (p.Gly7219Val) c.48851G>T (p.Gly16284Val) c.43928G>T (p.Gly14643Val) n.1411C>A c.47948G>T (p.Gly15983Val) c.21842G>T (p.Gly7281Val) c.21701G>T (p.Gly7234Val) c.47744G>T (p.Gly15915Val) c.43142G>T (p.Gly14381Val) c.43139G>T (p.Gly14380Val) c.40181G>T (p.Gly13394Val) c.21797G>T (p.Gly7266Val) c.43292G>T (p.Gly14431Val) c.43289G>T (p.Gly14430Val) c.42722G>T (p.Gly14241Val) c.40064G>T (p.Gly13355Val) c.39983G>T (p.Gly13328Val) c.21746G>T (p.Gly7249Val) c.11600G>T (p.Gly3867Val) | |
| 2 | g.178614663C= | CA1310549460 | TTN,TTN-AS1 | c.41147G= (p.Gly13716=) c.22232G= (p.Gly7411=) c.22031G= (p.Gly7344=) c.21656G= (p.Gly7219=) c.48851G= (p.Gly16284=) c.43928G= (p.Gly14643=) n.1411C= c.47948G= (p.Gly15983=) c.21842G= (p.Gly7281=) c.21701G= (p.Gly7234=) c.47744G= (p.Gly15915=) c.43142G= (p.Gly14381=) c.43139G= (p.Gly14380=) c.40181G= (p.Gly13394=) c.21797G= (p.Gly7266=) c.43292G= (p.Gly14431=) c.43289G= (p.Gly14430=) c.42722G= (p.Gly14241=) c.40064G= (p.Gly13355=) c.39983G= (p.Gly13328=) c.21746G= (p.Gly7249=) c.11600G= (p.Gly3867=) | |
| 2 | g.178614663C>G | CA349607726 | TTN,TTN-AS1 | c.41147G>C (p.Gly13716Ala) c.22232G>C (p.Gly7411Ala) c.22031G>C (p.Gly7344Ala) c.21656G>C (p.Gly7219Ala) c.48851G>C (p.Gly16284Ala) c.43928G>C (p.Gly14643Ala) n.1411C>G c.47948G>C (p.Gly15983Ala) c.21842G>C (p.Gly7281Ala) c.21701G>C (p.Gly7234Ala) c.47744G>C (p.Gly15915Ala) c.43142G>C (p.Gly14381Ala) c.43139G>C (p.Gly14380Ala) c.40181G>C (p.Gly13394Ala) c.21797G>C (p.Gly7266Ala) c.43292G>C (p.Gly14431Ala) c.43289G>C (p.Gly14430Ala) c.42722G>C (p.Gly14241Ala) c.40064G>C (p.Gly13355Ala) c.39983G>C (p.Gly13328Ala) c.21746G>C (p.Gly7249Ala) c.11600G>C (p.Gly3867Ala) |