| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178591006C>A | CA349479974 | TTN,TTN-AS1 | c.53015G>T (p.Cys17672Phe) c.34100G>T (p.Cys11367Phe) c.33899G>T (p.Cys11300Phe) c.33524G>T (p.Cys11175Phe) c.60719G>T (p.Cys20240Phe) c.55796G>T (p.Cys18599Phe) n.597-6590C>A n.3189-133C>A c.59816G>T (p.Cys19939Phe) c.33710G>T (p.Cys11237Phe) c.33569G>T (p.Cys11190Phe) c.59612G>T (p.Cys19871Phe) c.55010G>T (p.Cys18337Phe) c.55007G>T (p.Cys18336Phe) c.52049G>T (p.Cys17350Phe) c.33665G>T (p.Cys11222Phe) c.55160G>T (p.Cys18387Phe) c.55157G>T (p.Cys18386Phe) c.54590G>T (p.Cys18197Phe) c.51932G>T (p.Cys17311Phe) c.51851G>T (p.Cys17284Phe) c.33614G>T (p.Cys11205Phe) c.23468G>T (p.Cys7823Phe) | |
| 2 | g.178591006C= | CA1310539755 | TTN,TTN-AS1 | c.53015G= (p.Cys17672=) c.34100G= (p.Cys11367=) c.33899G= (p.Cys11300=) c.33524G= (p.Cys11175=) c.60719G= (p.Cys20240=) c.55796G= (p.Cys18599=) n.597-6590C= n.3189-133C= c.59816G= (p.Cys19939=) c.33710G= (p.Cys11237=) c.33569G= (p.Cys11190=) c.59612G= (p.Cys19871=) c.55010G= (p.Cys18337=) c.55007G= (p.Cys18336=) c.52049G= (p.Cys17350=) c.33665G= (p.Cys11222=) c.55160G= (p.Cys18387=) c.55157G= (p.Cys18386=) c.54590G= (p.Cys18197=) c.51932G= (p.Cys17311=) c.51851G= (p.Cys17284=) c.33614G= (p.Cys11205=) c.23468G= (p.Cys7823=) | |
| 2 | g.178591006C>G | CA349479977 | TTN,TTN-AS1 | c.53015G>C (p.Cys17672Ser) c.34100G>C (p.Cys11367Ser) c.33899G>C (p.Cys11300Ser) c.33524G>C (p.Cys11175Ser) c.60719G>C (p.Cys20240Ser) c.55796G>C (p.Cys18599Ser) n.597-6590C>G n.3189-133C>G c.59816G>C (p.Cys19939Ser) c.33710G>C (p.Cys11237Ser) c.33569G>C (p.Cys11190Ser) c.59612G>C (p.Cys19871Ser) c.55010G>C (p.Cys18337Ser) c.55007G>C (p.Cys18336Ser) c.52049G>C (p.Cys17350Ser) c.33665G>C (p.Cys11222Ser) c.55160G>C (p.Cys18387Ser) c.55157G>C (p.Cys18386Ser) c.54590G>C (p.Cys18197Ser) c.51932G>C (p.Cys17311Ser) c.51851G>C (p.Cys17284Ser) c.33614G>C (p.Cys11205Ser) c.23468G>C (p.Cys7823Ser) | |
| 2 | g.178591006C>T | CA60968721 | TTN,TTN-AS1 | c.53015G>A (p.Cys17672Tyr) c.34100G>A (p.Cys11367Tyr) c.33899G>A (p.Cys11300Tyr) c.33524G>A (p.Cys11175Tyr) c.60719G>A (p.Cys20240Tyr) c.55796G>A (p.Cys18599Tyr) n.597-6590C>T n.3189-133C>T c.59816G>A (p.Cys19939Tyr) c.33710G>A (p.Cys11237Tyr) c.33569G>A (p.Cys11190Tyr) c.59612G>A (p.Cys19871Tyr) c.55010G>A (p.Cys18337Tyr) c.55007G>A (p.Cys18336Tyr) c.52049G>A (p.Cys17350Tyr) c.33665G>A (p.Cys11222Tyr) c.55160G>A (p.Cys18387Tyr) c.55157G>A (p.Cys18386Tyr) c.54590G>A (p.Cys18197Tyr) c.51932G>A (p.Cys17311Tyr) c.51851G>A (p.Cys17284Tyr) c.33614G>A (p.Cys11205Tyr) c.23468G>A (p.Cys7823Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178591007A= | CA1310539756 | TTN,TTN-AS1 | c.53014T= (p.Cys17672=) c.34099T= (p.Cys11367=) c.33898T= (p.Cys11300=) c.33523T= (p.Cys11175=) c.60718T= (p.Cys20240=) c.55795T= (p.Cys18599=) n.597-6589A= n.3189-132A= c.59815T= (p.Cys19939=) c.33709T= (p.Cys11237=) c.33568T= (p.Cys11190=) c.59611T= (p.Cys19871=) c.55009T= (p.Cys18337=) c.55006T= (p.Cys18336=) c.52048T= (p.Cys17350=) c.33664T= (p.Cys11222=) c.55159T= (p.Cys18387=) c.55156T= (p.Cys18386=) c.54589T= (p.Cys18197=) c.51931T= (p.Cys17311=) c.51850T= (p.Cys17284=) c.33613T= (p.Cys11205=) c.23467T= (p.Cys7823=) | |
| 2 | g.178591007A>C | CA349479980 | TTN,TTN-AS1 | c.53014T>G (p.Cys17672Gly) c.34099T>G (p.Cys11367Gly) c.33898T>G (p.Cys11300Gly) c.33523T>G (p.Cys11175Gly) c.60718T>G (p.Cys20240Gly) c.55795T>G (p.Cys18599Gly) n.597-6589A>C n.3189-132A>C c.59815T>G (p.Cys19939Gly) c.33709T>G (p.Cys11237Gly) c.33568T>G (p.Cys11190Gly) c.59611T>G (p.Cys19871Gly) c.55009T>G (p.Cys18337Gly) c.55006T>G (p.Cys18336Gly) c.52048T>G (p.Cys17350Gly) c.33664T>G (p.Cys11222Gly) c.55159T>G (p.Cys18387Gly) c.55156T>G (p.Cys18386Gly) c.54589T>G (p.Cys18197Gly) c.51931T>G (p.Cys17311Gly) c.51850T>G (p.Cys17284Gly) c.33613T>G (p.Cys11205Gly) c.23467T>G (p.Cys7823Gly) | |
| 2 | g.178591007A>G | CA349479981 | TTN,TTN-AS1 | c.53014T>C (p.Cys17672Arg) c.34099T>C (p.Cys11367Arg) c.33898T>C (p.Cys11300Arg) c.33523T>C (p.Cys11175Arg) c.60718T>C (p.Cys20240Arg) c.55795T>C (p.Cys18599Arg) n.597-6589A>G n.3189-132A>G c.59815T>C (p.Cys19939Arg) c.33709T>C (p.Cys11237Arg) c.33568T>C (p.Cys11190Arg) c.59611T>C (p.Cys19871Arg) c.55009T>C (p.Cys18337Arg) c.55006T>C (p.Cys18336Arg) c.52048T>C (p.Cys17350Arg) c.33664T>C (p.Cys11222Arg) c.55159T>C (p.Cys18387Arg) c.55156T>C (p.Cys18386Arg) c.54589T>C (p.Cys18197Arg) c.51931T>C (p.Cys17311Arg) c.51850T>C (p.Cys17284Arg) c.33613T>C (p.Cys11205Arg) c.23467T>C (p.Cys7823Arg) | gnomAD v4 |
| 2 | g.178591007A>T | CA349479993 | TTN,TTN-AS1 | c.53014T>A (p.Cys17672Ser) c.34099T>A (p.Cys11367Ser) c.33898T>A (p.Cys11300Ser) c.33523T>A (p.Cys11175Ser) c.60718T>A (p.Cys20240Ser) c.55795T>A (p.Cys18599Ser) n.597-6589A>T n.3189-132A>T c.59815T>A (p.Cys19939Ser) c.33709T>A (p.Cys11237Ser) c.33568T>A (p.Cys11190Ser) c.59611T>A (p.Cys19871Ser) c.55009T>A (p.Cys18337Ser) c.55006T>A (p.Cys18336Ser) c.52048T>A (p.Cys17350Ser) c.33664T>A (p.Cys11222Ser) c.55159T>A (p.Cys18387Ser) c.55156T>A (p.Cys18386Ser) c.54589T>A (p.Cys18197Ser) c.51931T>A (p.Cys17311Ser) c.51850T>A (p.Cys17284Ser) c.33613T>A (p.Cys11205Ser) c.23467T>A (p.Cys7823Ser) | dbSNP |
| 2 | g.178591008G>A | CA430266354 | TTN,TTN-AS1 | c.53013C>T (p.Gly17671=) c.34098C>T (p.Gly11366=) c.33897C>T (p.Gly11299=) c.33522C>T (p.Gly11174=) c.60717C>T (p.Gly20239=) c.55794C>T (p.Gly18598=) n.597-6588G>A n.3189-131G>A c.59814C>T (p.Gly19938=) c.33708C>T (p.Gly11236=) c.33567C>T (p.Gly11189=) c.59610C>T (p.Gly19870=) c.55008C>T (p.Gly18336=) c.55005C>T (p.Gly18335=) c.52047C>T (p.Gly17349=) c.33663C>T (p.Gly11221=) c.55158C>T (p.Gly18386=) c.55155C>T (p.Gly18385=) c.54588C>T (p.Gly18196=) c.51930C>T (p.Gly17310=) c.51849C>T (p.Gly17283=) c.33612C>T (p.Gly11204=) c.23466C>T (p.Gly7822=) | |
| 2 | g.178591008G>C | CA430266355 | TTN,TTN-AS1 | c.53013C>G (p.Gly17671=) c.34098C>G (p.Gly11366=) c.33897C>G (p.Gly11299=) c.33522C>G (p.Gly11174=) c.60717C>G (p.Gly20239=) c.55794C>G (p.Gly18598=) n.597-6588G>C n.3189-131G>C c.59814C>G (p.Gly19938=) c.33708C>G (p.Gly11236=) c.33567C>G (p.Gly11189=) c.59610C>G (p.Gly19870=) c.55008C>G (p.Gly18336=) c.55005C>G (p.Gly18335=) c.52047C>G (p.Gly17349=) c.33663C>G (p.Gly11221=) c.55158C>G (p.Gly18386=) c.55155C>G (p.Gly18385=) c.54588C>G (p.Gly18196=) c.51930C>G (p.Gly17310=) c.51849C>G (p.Gly17283=) c.33612C>G (p.Gly11204=) c.23466C>G (p.Gly7822=) | |
| 2 | g.178591008G>T | CA430266356 | TTN,TTN-AS1 | c.53013C>A (p.Gly17671=) c.34098C>A (p.Gly11366=) c.33897C>A (p.Gly11299=) c.33522C>A (p.Gly11174=) c.60717C>A (p.Gly20239=) c.55794C>A (p.Gly18598=) n.597-6588G>T n.3189-131G>T c.59814C>A (p.Gly19938=) c.33708C>A (p.Gly11236=) c.33567C>A (p.Gly11189=) c.59610C>A (p.Gly19870=) c.55008C>A (p.Gly18336=) c.55005C>A (p.Gly18335=) c.52047C>A (p.Gly17349=) c.33663C>A (p.Gly11221=) c.55158C>A (p.Gly18386=) c.55155C>A (p.Gly18385=) c.54588C>A (p.Gly18196=) c.51930C>A (p.Gly17310=) c.51849C>A (p.Gly17283=) c.33612C>A (p.Gly11204=) c.23466C>A (p.Gly7822=) | |
| 2 | g.178591009C>A | CA349479997 | TTN,TTN-AS1 | c.53012G>T (p.Gly17671Val) c.34097G>T (p.Gly11366Val) c.33896G>T (p.Gly11299Val) c.33521G>T (p.Gly11174Val) c.60716G>T (p.Gly20239Val) c.55793G>T (p.Gly18598Val) n.597-6587C>A n.3189-130C>A c.59813G>T (p.Gly19938Val) c.33707G>T (p.Gly11236Val) c.33566G>T (p.Gly11189Val) c.59609G>T (p.Gly19870Val) c.55007G>T (p.Gly18336Val) c.55004G>T (p.Gly18335Val) c.52046G>T (p.Gly17349Val) c.33662G>T (p.Gly11221Val) c.55157G>T (p.Gly18386Val) c.55154G>T (p.Gly18385Val) c.54587G>T (p.Gly18196Val) c.51929G>T (p.Gly17310Val) c.51848G>T (p.Gly17283Val) c.33611G>T (p.Gly11204Val) c.23465G>T (p.Gly7822Val) | |
| 2 | g.178591009C>G | CA349479999 | TTN,TTN-AS1 | c.53012G>C (p.Gly17671Ala) c.34097G>C (p.Gly11366Ala) c.33896G>C (p.Gly11299Ala) c.33521G>C (p.Gly11174Ala) c.60716G>C (p.Gly20239Ala) c.55793G>C (p.Gly18598Ala) n.597-6587C>G n.3189-130C>G c.59813G>C (p.Gly19938Ala) c.33707G>C (p.Gly11236Ala) c.33566G>C (p.Gly11189Ala) c.59609G>C (p.Gly19870Ala) c.55007G>C (p.Gly18336Ala) c.55004G>C (p.Gly18335Ala) c.52046G>C (p.Gly17349Ala) c.33662G>C (p.Gly11221Ala) c.55157G>C (p.Gly18386Ala) c.55154G>C (p.Gly18385Ala) c.54587G>C (p.Gly18196Ala) c.51929G>C (p.Gly17310Ala) c.51848G>C (p.Gly17283Ala) c.33611G>C (p.Gly11204Ala) c.23465G>C (p.Gly7822Ala) | gnomAD v4 |
| 2 | g.178591009C>T | CA349480001 | TTN,TTN-AS1 | c.53012G>A (p.Gly17671Asp) c.34097G>A (p.Gly11366Asp) c.33896G>A (p.Gly11299Asp) c.33521G>A (p.Gly11174Asp) c.60716G>A (p.Gly20239Asp) c.55793G>A (p.Gly18598Asp) n.597-6587C>T n.3189-130C>T c.59813G>A (p.Gly19938Asp) c.33707G>A (p.Gly11236Asp) c.33566G>A (p.Gly11189Asp) c.59609G>A (p.Gly19870Asp) c.55007G>A (p.Gly18336Asp) c.55004G>A (p.Gly18335Asp) c.52046G>A (p.Gly17349Asp) c.33662G>A (p.Gly11221Asp) c.55157G>A (p.Gly18386Asp) c.55154G>A (p.Gly18385Asp) c.54587G>A (p.Gly18196Asp) c.51929G>A (p.Gly17310Asp) c.51848G>A (p.Gly17283Asp) c.33611G>A (p.Gly11204Asp) c.23465G>A (p.Gly7822Asp) | |
| 2 | g.178591011del | CA2580064857 | TTN,TTN-AS1 | c.53012del (p.Gly17671AlafsTer14) c.34097del (p.Gly11366AlafsTer14) c.33896del (p.Gly11299AlafsTer14) c.33521del (p.Gly11174AlafsTer14) c.60716del (p.Gly20239AlafsTer14) c.55793del (p.Gly18598AlafsTer14) n.597-6585del n.3189-128del c.59813del (p.Gly19938AlafsTer14) c.33707del (p.Gly11236AlafsTer14) c.33566del (p.Gly11189AlafsTer14) c.59609del (p.Gly19870AlafsTer14) c.55007del (p.Gly18336AlafsTer14) c.55004del (p.Gly18335AlafsTer14) c.52046del (p.Gly17349AlafsTer14) c.33662del (p.Gly11221AlafsTer14) c.55157del (p.Gly18386AlafsTer14) c.55154del (p.Gly18385AlafsTer14) c.54587del (p.Gly18196AlafsTer14) c.51929del (p.Gly17310AlafsTer14) c.51848del (p.Gly17283AlafsTer14) c.33611del (p.Gly11204AlafsTer14) c.23465del (p.Gly7822AlafsTer14) | ClinVar |
| 2 | g.178591010C>A | CA349480003 | TTN,TTN-AS1 | c.53011G>T (p.Gly17671Cys) c.34096G>T (p.Gly11366Cys) c.33895G>T (p.Gly11299Cys) c.33520G>T (p.Gly11174Cys) c.60715G>T (p.Gly20239Cys) c.55792G>T (p.Gly18598Cys) n.597-6586C>A n.3189-129C>A c.59812G>T (p.Gly19938Cys) c.33706G>T (p.Gly11236Cys) c.33565G>T (p.Gly11189Cys) c.59608G>T (p.Gly19870Cys) c.55006G>T (p.Gly18336Cys) c.55003G>T (p.Gly18335Cys) c.52045G>T (p.Gly17349Cys) c.33661G>T (p.Gly11221Cys) c.55156G>T (p.Gly18386Cys) c.55153G>T (p.Gly18385Cys) c.54586G>T (p.Gly18196Cys) c.51928G>T (p.Gly17310Cys) c.51847G>T (p.Gly17283Cys) c.33610G>T (p.Gly11204Cys) c.23464G>T (p.Gly7822Cys) | |
| 2 | g.178591010C= | CA1310539757 | TTN,TTN-AS1 | c.53011G= (p.Gly17671=) c.34096G= (p.Gly11366=) c.33895G= (p.Gly11299=) c.33520G= (p.Gly11174=) c.60715G= (p.Gly20239=) c.55792G= (p.Gly18598=) n.597-6586C= n.3189-129C= c.59812G= (p.Gly19938=) c.33706G= (p.Gly11236=) c.33565G= (p.Gly11189=) c.59608G= (p.Gly19870=) c.55006G= (p.Gly18336=) c.55003G= (p.Gly18335=) c.52045G= (p.Gly17349=) c.33661G= (p.Gly11221=) c.55156G= (p.Gly18386=) c.55153G= (p.Gly18385=) c.54586G= (p.Gly18196=) c.51928G= (p.Gly17310=) c.51847G= (p.Gly17283=) c.33610G= (p.Gly11204=) c.23464G= (p.Gly7822=) | |
| 2 | g.178591010C>G | CA349480011 | TTN,TTN-AS1 | c.53011G>C (p.Gly17671Arg) c.34096G>C (p.Gly11366Arg) c.33895G>C (p.Gly11299Arg) c.33520G>C (p.Gly11174Arg) c.60715G>C (p.Gly20239Arg) c.55792G>C (p.Gly18598Arg) n.597-6586C>G n.3189-129C>G c.59812G>C (p.Gly19938Arg) c.33706G>C (p.Gly11236Arg) c.33565G>C (p.Gly11189Arg) c.59608G>C (p.Gly19870Arg) c.55006G>C (p.Gly18336Arg) c.55003G>C (p.Gly18335Arg) c.52045G>C (p.Gly17349Arg) c.33661G>C (p.Gly11221Arg) c.55156G>C (p.Gly18386Arg) c.55153G>C (p.Gly18385Arg) c.54586G>C (p.Gly18196Arg) c.51928G>C (p.Gly17310Arg) c.51847G>C (p.Gly17283Arg) c.33610G>C (p.Gly11204Arg) c.23464G>C (p.Gly7822Arg) | gnomAD v4 |
| 2 | g.178591010C>T | CA349480013 | TTN,TTN-AS1 | c.53011G>A (p.Gly17671Ser) c.34096G>A (p.Gly11366Ser) c.33895G>A (p.Gly11299Ser) c.33520G>A (p.Gly11174Ser) c.60715G>A (p.Gly20239Ser) c.55792G>A (p.Gly18598Ser) n.597-6586C>T n.3189-129C>T c.59812G>A (p.Gly19938Ser) c.33706G>A (p.Gly11236Ser) c.33565G>A (p.Gly11189Ser) c.59608G>A (p.Gly19870Ser) c.55006G>A (p.Gly18336Ser) c.55003G>A (p.Gly18335Ser) c.52045G>A (p.Gly17349Ser) c.33661G>A (p.Gly11221Ser) c.55156G>A (p.Gly18386Ser) c.55153G>A (p.Gly18385Ser) c.54586G>A (p.Gly18196Ser) c.51928G>A (p.Gly17310Ser) c.51847G>A (p.Gly17283Ser) c.33610G>A (p.Gly11204Ser) c.23464G>A (p.Gly7822Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178591011C>A | CA349480017 | TTN,TTN-AS1 | c.53010G>T (p.Lys17670Asn) c.34095G>T (p.Lys11365Asn) c.33894G>T (p.Lys11298Asn) c.33519G>T (p.Lys11173Asn) c.60714G>T (p.Lys20238Asn) c.55791G>T (p.Lys18597Asn) n.597-6585C>A n.3189-128C>A c.59811G>T (p.Lys19937Asn) c.33705G>T (p.Lys11235Asn) c.33564G>T (p.Lys11188Asn) c.59607G>T (p.Lys19869Asn) c.55005G>T (p.Lys18335Asn) c.55002G>T (p.Lys18334Asn) c.52044G>T (p.Lys17348Asn) c.33660G>T (p.Lys11220Asn) c.55155G>T (p.Lys18385Asn) c.55152G>T (p.Lys18384Asn) c.54585G>T (p.Lys18195Asn) c.51927G>T (p.Lys17309Asn) c.51846G>T (p.Lys17282Asn) c.33609G>T (p.Lys11203Asn) c.23463G>T (p.Lys7821Asn) | |
| 2 | g.178591011C>G | CA349480022 | TTN,TTN-AS1 | c.53010G>C (p.Lys17670Asn) c.34095G>C (p.Lys11365Asn) c.33894G>C (p.Lys11298Asn) c.33519G>C (p.Lys11173Asn) c.60714G>C (p.Lys20238Asn) c.55791G>C (p.Lys18597Asn) n.597-6585C>G n.3189-128C>G c.59811G>C (p.Lys19937Asn) c.33705G>C (p.Lys11235Asn) c.33564G>C (p.Lys11188Asn) c.59607G>C (p.Lys19869Asn) c.55005G>C (p.Lys18335Asn) c.55002G>C (p.Lys18334Asn) c.52044G>C (p.Lys17348Asn) c.33660G>C (p.Lys11220Asn) c.55155G>C (p.Lys18385Asn) c.55152G>C (p.Lys18384Asn) c.54585G>C (p.Lys18195Asn) c.51927G>C (p.Lys17309Asn) c.51846G>C (p.Lys17282Asn) c.33609G>C (p.Lys11203Asn) c.23463G>C (p.Lys7821Asn) | |
| 2 | g.178591011C>T | CA430266360 | TTN,TTN-AS1 | c.53010G>A (p.Lys17670=) c.34095G>A (p.Lys11365=) c.33894G>A (p.Lys11298=) c.33519G>A (p.Lys11173=) c.60714G>A (p.Lys20238=) c.55791G>A (p.Lys18597=) n.597-6585C>T n.3189-128C>T c.59811G>A (p.Lys19937=) c.33705G>A (p.Lys11235=) c.33564G>A (p.Lys11188=) c.59607G>A (p.Lys19869=) c.55005G>A (p.Lys18335=) c.55002G>A (p.Lys18334=) c.52044G>A (p.Lys17348=) c.33660G>A (p.Lys11220=) c.55155G>A (p.Lys18385=) c.55152G>A (p.Lys18384=) c.54585G>A (p.Lys18195=) c.51927G>A (p.Lys17309=) c.51846G>A (p.Lys17282=) c.33609G>A (p.Lys11203=) c.23463G>A (p.Lys7821=) | |
| 2 | g.178591012T>A | CA349480026 | TTN,TTN-AS1 | c.53009A>T (p.Lys17670Met) c.34094A>T (p.Lys11365Met) c.33893A>T (p.Lys11298Met) c.33518A>T (p.Lys11173Met) c.60713A>T (p.Lys20238Met) c.55790A>T (p.Lys18597Met) n.597-6584T>A n.3189-127T>A c.59810A>T (p.Lys19937Met) c.33704A>T (p.Lys11235Met) c.33563A>T (p.Lys11188Met) c.59606A>T (p.Lys19869Met) c.55004A>T (p.Lys18335Met) c.55001A>T (p.Lys18334Met) c.52043A>T (p.Lys17348Met) c.33659A>T (p.Lys11220Met) c.55154A>T (p.Lys18385Met) c.55151A>T (p.Lys18384Met) c.54584A>T (p.Lys18195Met) c.51926A>T (p.Lys17309Met) c.51845A>T (p.Lys17282Met) c.33608A>T (p.Lys11203Met) c.23462A>T (p.Lys7821Met) | |
| 2 | g.178591012T>C | CA349480050 | TTN,TTN-AS1 | c.53009A>G (p.Lys17670Arg) c.34094A>G (p.Lys11365Arg) c.33893A>G (p.Lys11298Arg) c.33518A>G (p.Lys11173Arg) c.60713A>G (p.Lys20238Arg) c.55790A>G (p.Lys18597Arg) n.597-6584T>C n.3189-127T>C c.59810A>G (p.Lys19937Arg) c.33704A>G (p.Lys11235Arg) c.33563A>G (p.Lys11188Arg) c.59606A>G (p.Lys19869Arg) c.55004A>G (p.Lys18335Arg) c.55001A>G (p.Lys18334Arg) c.52043A>G (p.Lys17348Arg) c.33659A>G (p.Lys11220Arg) c.55154A>G (p.Lys18385Arg) c.55151A>G (p.Lys18384Arg) c.54584A>G (p.Lys18195Arg) c.51926A>G (p.Lys17309Arg) c.51845A>G (p.Lys17282Arg) c.33608A>G (p.Lys11203Arg) c.23462A>G (p.Lys7821Arg) | gnomAD v4 |
| 2 | g.178591012T>G | CA349480028 | TTN,TTN-AS1 | c.53009A>C (p.Lys17670Thr) c.34094A>C (p.Lys11365Thr) c.33893A>C (p.Lys11298Thr) c.33518A>C (p.Lys11173Thr) c.60713A>C (p.Lys20238Thr) c.55790A>C (p.Lys18597Thr) n.597-6584T>G n.3189-127T>G c.59810A>C (p.Lys19937Thr) c.33704A>C (p.Lys11235Thr) c.33563A>C (p.Lys11188Thr) c.59606A>C (p.Lys19869Thr) c.55004A>C (p.Lys18335Thr) c.55001A>C (p.Lys18334Thr) c.52043A>C (p.Lys17348Thr) c.33659A>C (p.Lys11220Thr) c.55154A>C (p.Lys18385Thr) c.55151A>C (p.Lys18384Thr) c.54584A>C (p.Lys18195Thr) c.51926A>C (p.Lys17309Thr) c.51845A>C (p.Lys17282Thr) c.33608A>C (p.Lys11203Thr) c.23462A>C (p.Lys7821Thr) | |
| 2 | g.178591013T>A | CA349480064 | TTN,TTN-AS1 | c.53008A>T (p.Lys17670Ter) c.34093A>T (p.Lys11365Ter) c.33892A>T (p.Lys11298Ter) c.33517A>T (p.Lys11173Ter) c.60712A>T (p.Lys20238Ter) c.55789A>T (p.Lys18597Ter) n.597-6583T>A n.3189-126T>A c.59809A>T (p.Lys19937Ter) c.33703A>T (p.Lys11235Ter) c.33562A>T (p.Lys11188Ter) c.59605A>T (p.Lys19869Ter) c.55003A>T (p.Lys18335Ter) c.55000A>T (p.Lys18334Ter) c.52042A>T (p.Lys17348Ter) c.33658A>T (p.Lys11220Ter) c.55153A>T (p.Lys18385Ter) c.55150A>T (p.Lys18384Ter) c.54583A>T (p.Lys18195Ter) c.51925A>T (p.Lys17309Ter) c.51844A>T (p.Lys17282Ter) c.33607A>T (p.Lys11203Ter) c.23461A>T (p.Lys7821Ter) | |
| 2 | g.178591013T>C | CA349480067 | TTN,TTN-AS1 | c.53008A>G (p.Lys17670Glu) c.34093A>G (p.Lys11365Glu) c.33892A>G (p.Lys11298Glu) c.33517A>G (p.Lys11173Glu) c.60712A>G (p.Lys20238Glu) c.55789A>G (p.Lys18597Glu) n.597-6583T>C n.3189-126T>C c.59809A>G (p.Lys19937Glu) c.33703A>G (p.Lys11235Glu) c.33562A>G (p.Lys11188Glu) c.59605A>G (p.Lys19869Glu) c.55003A>G (p.Lys18335Glu) c.55000A>G (p.Lys18334Glu) c.52042A>G (p.Lys17348Glu) c.33658A>G (p.Lys11220Glu) c.55153A>G (p.Lys18385Glu) c.55150A>G (p.Lys18384Glu) c.54583A>G (p.Lys18195Glu) c.51925A>G (p.Lys17309Glu) c.51844A>G (p.Lys17282Glu) c.33607A>G (p.Lys11203Glu) c.23461A>G (p.Lys7821Glu) | |
| 2 | g.178591013T>G | CA349480065 | TTN,TTN-AS1 | c.53008A>C (p.Lys17670Gln) c.34093A>C (p.Lys11365Gln) c.33892A>C (p.Lys11298Gln) c.33517A>C (p.Lys11173Gln) c.60712A>C (p.Lys20238Gln) c.55789A>C (p.Lys18597Gln) n.597-6583T>G n.3189-126T>G c.59809A>C (p.Lys19937Gln) c.33703A>C (p.Lys11235Gln) c.33562A>C (p.Lys11188Gln) c.59605A>C (p.Lys19869Gln) c.55003A>C (p.Lys18335Gln) c.55000A>C (p.Lys18334Gln) c.52042A>C (p.Lys17348Gln) c.33658A>C (p.Lys11220Gln) c.55153A>C (p.Lys18385Gln) c.55150A>C (p.Lys18384Gln) c.54583A>C (p.Lys18195Gln) c.51925A>C (p.Lys17309Gln) c.51844A>C (p.Lys17282Gln) c.33607A>C (p.Lys11203Gln) c.23461A>C (p.Lys7821Gln) | |
| 2 | g.178591014C>A | CA349480068 | TTN,TTN-AS1 | c.53007G>T (p.Gln17669His) c.34092G>T (p.Gln11364His) c.33891G>T (p.Gln11297His) c.33516G>T (p.Gln11172His) c.60711G>T (p.Gln20237His) c.55788G>T (p.Gln18596His) n.597-6582C>A n.3189-125C>A c.59808G>T (p.Gln19936His) c.33702G>T (p.Gln11234His) c.33561G>T (p.Gln11187His) c.59604G>T (p.Gln19868His) c.55002G>T (p.Gln18334His) c.54999G>T (p.Gln18333His) c.52041G>T (p.Gln17347His) c.33657G>T (p.Gln11219His) c.55152G>T (p.Gln18384His) c.55149G>T (p.Gln18383His) c.54582G>T (p.Gln18194His) c.51924G>T (p.Gln17308His) c.51843G>T (p.Gln17281His) c.33606G>T (p.Gln11202His) c.23460G>T (p.Gln7820His) | |
| 2 | g.178591014C>G | CA349480071 | TTN,TTN-AS1 | c.53007G>C (p.Gln17669His) c.34092G>C (p.Gln11364His) c.33891G>C (p.Gln11297His) c.33516G>C (p.Gln11172His) c.60711G>C (p.Gln20237His) c.55788G>C (p.Gln18596His) n.597-6582C>G n.3189-125C>G c.59808G>C (p.Gln19936His) c.33702G>C (p.Gln11234His) c.33561G>C (p.Gln11187His) c.59604G>C (p.Gln19868His) c.55002G>C (p.Gln18334His) c.54999G>C (p.Gln18333His) c.52041G>C (p.Gln17347His) c.33657G>C (p.Gln11219His) c.55152G>C (p.Gln18384His) c.55149G>C (p.Gln18383His) c.54582G>C (p.Gln18194His) c.51924G>C (p.Gln17308His) c.51843G>C (p.Gln17281His) c.33606G>C (p.Gln11202His) c.23460G>C (p.Gln7820His) | |
| 2 | g.178591014C>T | CA430266361 | TTN,TTN-AS1 | c.53007G>A (p.Gln17669=) c.34092G>A (p.Gln11364=) c.33891G>A (p.Gln11297=) c.33516G>A (p.Gln11172=) c.60711G>A (p.Gln20237=) c.55788G>A (p.Gln18596=) n.597-6582C>T n.3189-125C>T c.59808G>A (p.Gln19936=) c.33702G>A (p.Gln11234=) c.33561G>A (p.Gln11187=) c.59604G>A (p.Gln19868=) c.55002G>A (p.Gln18334=) c.54999G>A (p.Gln18333=) c.52041G>A (p.Gln17347=) c.33657G>A (p.Gln11219=) c.55152G>A (p.Gln18384=) c.55149G>A (p.Gln18383=) c.54582G>A (p.Gln18194=) c.51924G>A (p.Gln17308=) c.51843G>A (p.Gln17281=) c.33606G>A (p.Gln11202=) c.23460G>A (p.Gln7820=) | |
| 2 | g.178591015del | CA2662130790 | TTN,TTN-AS1 | c.53006del (p.Gln17669ArgfsTer16) c.34091del (p.Gln11364ArgfsTer16) c.33890del (p.Gln11297ArgfsTer16) c.33515del (p.Gln11172ArgfsTer16) c.60710del (p.Gln20237ArgfsTer16) c.55787del (p.Gln18596ArgfsTer16) n.597-6581del n.3189-124del c.59807del (p.Gln19936ArgfsTer16) c.33701del (p.Gln11234ArgfsTer16) c.33560del (p.Gln11187ArgfsTer16) c.59603del (p.Gln19868ArgfsTer16) c.55001del (p.Gln18334ArgfsTer16) c.54998del (p.Gln18333ArgfsTer16) c.52040del (p.Gln17347ArgfsTer16) c.33656del (p.Gln11219ArgfsTer16) c.55151del (p.Gln18384ArgfsTer16) c.55148del (p.Gln18383ArgfsTer16) c.54581del (p.Gln18194ArgfsTer16) c.51923del (p.Gln17308ArgfsTer16) c.51842del (p.Gln17281ArgfsTer16) c.33605del (p.Gln11202ArgfsTer16) c.23459del (p.Gln7820ArgfsTer16) | gnomAD v4 |
| 2 | g.178591015T>A | CA349480076 | TTN,TTN-AS1 | c.53006A>T (p.Gln17669Leu) c.34091A>T (p.Gln11364Leu) c.33890A>T (p.Gln11297Leu) c.33515A>T (p.Gln11172Leu) c.60710A>T (p.Gln20237Leu) c.55787A>T (p.Gln18596Leu) n.597-6581T>A n.3189-124T>A c.59807A>T (p.Gln19936Leu) c.33701A>T (p.Gln11234Leu) c.33560A>T (p.Gln11187Leu) c.59603A>T (p.Gln19868Leu) c.55001A>T (p.Gln18334Leu) c.54998A>T (p.Gln18333Leu) c.52040A>T (p.Gln17347Leu) c.33656A>T (p.Gln11219Leu) c.55151A>T (p.Gln18384Leu) c.55148A>T (p.Gln18383Leu) c.54581A>T (p.Gln18194Leu) c.51923A>T (p.Gln17308Leu) c.51842A>T (p.Gln17281Leu) c.33605A>T (p.Gln11202Leu) c.23459A>T (p.Gln7820Leu) | |
| 2 | g.178591015T>C | CA349480081 | TTN,TTN-AS1 | c.53006A>G (p.Gln17669Arg) c.34091A>G (p.Gln11364Arg) c.33890A>G (p.Gln11297Arg) c.33515A>G (p.Gln11172Arg) c.60710A>G (p.Gln20237Arg) c.55787A>G (p.Gln18596Arg) n.597-6581T>C n.3189-124T>C c.59807A>G (p.Gln19936Arg) c.33701A>G (p.Gln11234Arg) c.33560A>G (p.Gln11187Arg) c.59603A>G (p.Gln19868Arg) c.55001A>G (p.Gln18334Arg) c.54998A>G (p.Gln18333Arg) c.52040A>G (p.Gln17347Arg) c.33656A>G (p.Gln11219Arg) c.55151A>G (p.Gln18384Arg) c.55148A>G (p.Gln18383Arg) c.54581A>G (p.Gln18194Arg) c.51923A>G (p.Gln17308Arg) c.51842A>G (p.Gln17281Arg) c.33605A>G (p.Gln11202Arg) c.23459A>G (p.Gln7820Arg) | gnomAD v4 |
| 2 | g.178591015T>G | CA349480079 | TTN,TTN-AS1 | c.53006A>C (p.Gln17669Pro) c.34091A>C (p.Gln11364Pro) c.33890A>C (p.Gln11297Pro) c.33515A>C (p.Gln11172Pro) c.60710A>C (p.Gln20237Pro) c.55787A>C (p.Gln18596Pro) n.597-6581T>G n.3189-124T>G c.59807A>C (p.Gln19936Pro) c.33701A>C (p.Gln11234Pro) c.33560A>C (p.Gln11187Pro) c.59603A>C (p.Gln19868Pro) c.55001A>C (p.Gln18334Pro) c.54998A>C (p.Gln18333Pro) c.52040A>C (p.Gln17347Pro) c.33656A>C (p.Gln11219Pro) c.55151A>C (p.Gln18384Pro) c.55148A>C (p.Gln18383Pro) c.54581A>C (p.Gln18194Pro) c.51923A>C (p.Gln17308Pro) c.51842A>C (p.Gln17281Pro) c.33605A>C (p.Gln11202Pro) c.23459A>C (p.Gln7820Pro) | |
| 2 | g.178591016G>A | CA349480083 | TTN,TTN-AS1 | c.53005C>T (p.Gln17669Ter) c.34090C>T (p.Gln11364Ter) c.33889C>T (p.Gln11297Ter) c.33514C>T (p.Gln11172Ter) c.60709C>T (p.Gln20237Ter) c.55786C>T (p.Gln18596Ter) n.597-6580G>A n.3189-123G>A c.59806C>T (p.Gln19936Ter) c.33700C>T (p.Gln11234Ter) c.33559C>T (p.Gln11187Ter) c.59602C>T (p.Gln19868Ter) c.55000C>T (p.Gln18334Ter) c.54997C>T (p.Gln18333Ter) c.52039C>T (p.Gln17347Ter) c.33655C>T (p.Gln11219Ter) c.55150C>T (p.Gln18384Ter) c.55147C>T (p.Gln18383Ter) c.54580C>T (p.Gln18194Ter) c.51922C>T (p.Gln17308Ter) c.51841C>T (p.Gln17281Ter) c.33604C>T (p.Gln11202Ter) c.23458C>T (p.Gln7820Ter) | |
| 2 | g.178591016G>C | CA349480084 | TTN,TTN-AS1 | c.53005C>G (p.Gln17669Glu) c.34090C>G (p.Gln11364Glu) c.33889C>G (p.Gln11297Glu) c.33514C>G (p.Gln11172Glu) c.60709C>G (p.Gln20237Glu) c.55786C>G (p.Gln18596Glu) n.597-6580G>C n.3189-123G>C c.59806C>G (p.Gln19936Glu) c.33700C>G (p.Gln11234Glu) c.33559C>G (p.Gln11187Glu) c.59602C>G (p.Gln19868Glu) c.55000C>G (p.Gln18334Glu) c.54997C>G (p.Gln18333Glu) c.52039C>G (p.Gln17347Glu) c.33655C>G (p.Gln11219Glu) c.55150C>G (p.Gln18384Glu) c.55147C>G (p.Gln18383Glu) c.54580C>G (p.Gln18194Glu) c.51922C>G (p.Gln17308Glu) c.51841C>G (p.Gln17281Glu) c.33604C>G (p.Gln11202Glu) c.23458C>G (p.Gln7820Glu) | |
| 2 | g.178591016G>T | CA349480085 | TTN,TTN-AS1 | c.53005C>A (p.Gln17669Lys) c.34090C>A (p.Gln11364Lys) c.33889C>A (p.Gln11297Lys) c.33514C>A (p.Gln11172Lys) c.60709C>A (p.Gln20237Lys) c.55786C>A (p.Gln18596Lys) n.597-6580G>T n.3189-123G>T c.59806C>A (p.Gln19936Lys) c.33700C>A (p.Gln11234Lys) c.33559C>A (p.Gln11187Lys) c.59602C>A (p.Gln19868Lys) c.55000C>A (p.Gln18334Lys) c.54997C>A (p.Gln18333Lys) c.52039C>A (p.Gln17347Lys) c.33655C>A (p.Gln11219Lys) c.55150C>A (p.Gln18384Lys) c.55147C>A (p.Gln18383Lys) c.54580C>A (p.Gln18194Lys) c.51922C>A (p.Gln17308Lys) c.51841C>A (p.Gln17281Lys) c.33604C>A (p.Gln11202Lys) c.23458C>A (p.Gln7820Lys) | |
| 2 | g.178591017C>A | CA430266365 | TTN,TTN-AS1 | c.53004G>T (p.Leu17668=) c.34089G>T (p.Leu11363=) c.33888G>T (p.Leu11296=) c.33513G>T (p.Leu11171=) c.60708G>T (p.Leu20236=) c.55785G>T (p.Leu18595=) n.597-6579C>A n.3189-122C>A c.59805G>T (p.Leu19935=) c.33699G>T (p.Leu11233=) c.33558G>T (p.Leu11186=) c.59601G>T (p.Leu19867=) c.54999G>T (p.Leu18333=) c.54996G>T (p.Leu18332=) c.52038G>T (p.Leu17346=) c.33654G>T (p.Leu11218=) c.55149G>T (p.Leu18383=) c.55146G>T (p.Leu18382=) c.54579G>T (p.Leu18193=) c.51921G>T (p.Leu17307=) c.51840G>T (p.Leu17280=) c.33603G>T (p.Leu11201=) c.23457G>T (p.Leu7819=) | |
| 2 | g.178591017C>G | CA430266367 | TTN,TTN-AS1 | c.53004G>C (p.Leu17668=) c.34089G>C (p.Leu11363=) c.33888G>C (p.Leu11296=) c.33513G>C (p.Leu11171=) c.60708G>C (p.Leu20236=) c.55785G>C (p.Leu18595=) n.597-6579C>G n.3189-122C>G c.59805G>C (p.Leu19935=) c.33699G>C (p.Leu11233=) c.33558G>C (p.Leu11186=) c.59601G>C (p.Leu19867=) c.54999G>C (p.Leu18333=) c.54996G>C (p.Leu18332=) c.52038G>C (p.Leu17346=) c.33654G>C (p.Leu11218=) c.55149G>C (p.Leu18383=) c.55146G>C (p.Leu18382=) c.54579G>C (p.Leu18193=) c.51921G>C (p.Leu17307=) c.51840G>C (p.Leu17280=) c.33603G>C (p.Leu11201=) c.23457G>C (p.Leu7819=) | |
| 2 | g.178591017C>T | CA430266366 | TTN,TTN-AS1 | c.53004G>A (p.Leu17668=) c.34089G>A (p.Leu11363=) c.33888G>A (p.Leu11296=) c.33513G>A (p.Leu11171=) c.60708G>A (p.Leu20236=) c.55785G>A (p.Leu18595=) n.597-6579C>T n.3189-122C>T c.59805G>A (p.Leu19935=) c.33699G>A (p.Leu11233=) c.33558G>A (p.Leu11186=) c.59601G>A (p.Leu19867=) c.54999G>A (p.Leu18333=) c.54996G>A (p.Leu18332=) c.52038G>A (p.Leu17346=) c.33654G>A (p.Leu11218=) c.55149G>A (p.Leu18383=) c.55146G>A (p.Leu18382=) c.54579G>A (p.Leu18193=) c.51921G>A (p.Leu17307=) c.51840G>A (p.Leu17280=) c.33603G>A (p.Leu11201=) c.23457G>A (p.Leu7819=) | |
| 2 | g.178591018A= | CA1310539759 | TTN,TTN-AS1 | c.53003T= (p.Leu17668=) c.34088T= (p.Leu11363=) c.33887T= (p.Leu11296=) c.33512T= (p.Leu11171=) c.60707T= (p.Leu20236=) c.55784T= (p.Leu18595=) n.597-6578A= n.3189-121A= c.59804T= (p.Leu19935=) c.33698T= (p.Leu11233=) c.33557T= (p.Leu11186=) c.59600T= (p.Leu19867=) c.54998T= (p.Leu18333=) c.54995T= (p.Leu18332=) c.52037T= (p.Leu17346=) c.33653T= (p.Leu11218=) c.55148T= (p.Leu18383=) c.55145T= (p.Leu18382=) c.54578T= (p.Leu18193=) c.51920T= (p.Leu17307=) c.51839T= (p.Leu17280=) c.33602T= (p.Leu11201=) c.23456T= (p.Leu7819=) | |
| 2 | g.178591018A>C | CA1992455 | TTN,TTN-AS1 | c.53003T>G (p.Leu17668Arg) c.34088T>G (p.Leu11363Arg) c.33887T>G (p.Leu11296Arg) c.33512T>G (p.Leu11171Arg) c.60707T>G (p.Leu20236Arg) c.55784T>G (p.Leu18595Arg) n.597-6578A>C n.3189-121A>C c.59804T>G (p.Leu19935Arg) c.33698T>G (p.Leu11233Arg) c.33557T>G (p.Leu11186Arg) c.59600T>G (p.Leu19867Arg) c.54998T>G (p.Leu18333Arg) c.54995T>G (p.Leu18332Arg) c.52037T>G (p.Leu17346Arg) c.33653T>G (p.Leu11218Arg) c.55148T>G (p.Leu18383Arg) c.55145T>G (p.Leu18382Arg) c.54578T>G (p.Leu18193Arg) c.51920T>G (p.Leu17307Arg) c.51839T>G (p.Leu17280Arg) c.33602T>G (p.Leu11201Arg) c.23456T>G (p.Leu7819Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178591018A>G | CA349480088 | TTN,TTN-AS1 | c.53003T>C (p.Leu17668Pro) c.34088T>C (p.Leu11363Pro) c.33887T>C (p.Leu11296Pro) c.33512T>C (p.Leu11171Pro) c.60707T>C (p.Leu20236Pro) c.55784T>C (p.Leu18595Pro) n.597-6578A>G n.3189-121A>G c.59804T>C (p.Leu19935Pro) c.33698T>C (p.Leu11233Pro) c.33557T>C (p.Leu11186Pro) c.59600T>C (p.Leu19867Pro) c.54998T>C (p.Leu18333Pro) c.54995T>C (p.Leu18332Pro) c.52037T>C (p.Leu17346Pro) c.33653T>C (p.Leu11218Pro) c.55148T>C (p.Leu18383Pro) c.55145T>C (p.Leu18382Pro) c.54578T>C (p.Leu18193Pro) c.51920T>C (p.Leu17307Pro) c.51839T>C (p.Leu17280Pro) c.33602T>C (p.Leu11201Pro) c.23456T>C (p.Leu7819Pro) | |
| 2 | g.178591018A>T | CA349480103 | TTN,TTN-AS1 | c.53003T>A (p.Leu17668Gln) c.34088T>A (p.Leu11363Gln) c.33887T>A (p.Leu11296Gln) c.33512T>A (p.Leu11171Gln) c.60707T>A (p.Leu20236Gln) c.55784T>A (p.Leu18595Gln) n.597-6578A>T n.3189-121A>T c.59804T>A (p.Leu19935Gln) c.33698T>A (p.Leu11233Gln) c.33557T>A (p.Leu11186Gln) c.59600T>A (p.Leu19867Gln) c.54998T>A (p.Leu18333Gln) c.54995T>A (p.Leu18332Gln) c.52037T>A (p.Leu17346Gln) c.33653T>A (p.Leu11218Gln) c.55148T>A (p.Leu18383Gln) c.55145T>A (p.Leu18382Gln) c.54578T>A (p.Leu18193Gln) c.51920T>A (p.Leu17307Gln) c.51839T>A (p.Leu17280Gln) c.33602T>A (p.Leu11201Gln) c.23456T>A (p.Leu7819Gln) | |
| 2 | g.178591019G>A | CA430266369 | TTN,TTN-AS1 | c.53002C>T (p.Leu17668=) c.34087C>T (p.Leu11363=) c.33886C>T (p.Leu11296=) c.33511C>T (p.Leu11171=) c.60706C>T (p.Leu20236=) c.55783C>T (p.Leu18595=) n.597-6577G>A n.3189-120G>A c.59803C>T (p.Leu19935=) c.33697C>T (p.Leu11233=) c.33556C>T (p.Leu11186=) c.59599C>T (p.Leu19867=) c.54997C>T (p.Leu18333=) c.54994C>T (p.Leu18332=) c.52036C>T (p.Leu17346=) c.33652C>T (p.Leu11218=) c.55147C>T (p.Leu18383=) c.55144C>T (p.Leu18382=) c.54577C>T (p.Leu18193=) c.51919C>T (p.Leu17307=) c.51838C>T (p.Leu17280=) c.33601C>T (p.Leu11201=) c.23455C>T (p.Leu7819=) | |
| 2 | g.178591019G>C | CA349480107 | TTN,TTN-AS1 | c.53002C>G (p.Leu17668Val) c.34087C>G (p.Leu11363Val) c.33886C>G (p.Leu11296Val) c.33511C>G (p.Leu11171Val) c.60706C>G (p.Leu20236Val) c.55783C>G (p.Leu18595Val) n.597-6577G>C n.3189-120G>C c.59803C>G (p.Leu19935Val) c.33697C>G (p.Leu11233Val) c.33556C>G (p.Leu11186Val) c.59599C>G (p.Leu19867Val) c.54997C>G (p.Leu18333Val) c.54994C>G (p.Leu18332Val) c.52036C>G (p.Leu17346Val) c.33652C>G (p.Leu11218Val) c.55147C>G (p.Leu18383Val) c.55144C>G (p.Leu18382Val) c.54577C>G (p.Leu18193Val) c.51919C>G (p.Leu17307Val) c.51838C>G (p.Leu17280Val) c.33601C>G (p.Leu11201Val) c.23455C>G (p.Leu7819Val) | |
| 2 | g.178591019G>T | CA349480112 | TTN,TTN-AS1 | c.53002C>A (p.Leu17668Met) c.34087C>A (p.Leu11363Met) c.33886C>A (p.Leu11296Met) c.33511C>A (p.Leu11171Met) c.60706C>A (p.Leu20236Met) c.55783C>A (p.Leu18595Met) n.597-6577G>T n.3189-120G>T c.59803C>A (p.Leu19935Met) c.33697C>A (p.Leu11233Met) c.33556C>A (p.Leu11186Met) c.59599C>A (p.Leu19867Met) c.54997C>A (p.Leu18333Met) c.54994C>A (p.Leu18332Met) c.52036C>A (p.Leu17346Met) c.33652C>A (p.Leu11218Met) c.55147C>A (p.Leu18383Met) c.55144C>A (p.Leu18382Met) c.54577C>A (p.Leu18193Met) c.51919C>A (p.Leu17307Met) c.51838C>A (p.Leu17280Met) c.33601C>A (p.Leu11201Met) c.23455C>A (p.Leu7819Met) | |
| 2 | g.178591020A= | CA1310539761 | TTN,TTN-AS1 | c.53001T= (p.His17667=) c.34086T= (p.His11362=) c.33885T= (p.His11295=) c.33510T= (p.His11170=) c.60705T= (p.His20235=) c.55782T= (p.His18594=) n.597-6576A= n.3189-119A= c.59802T= (p.His19934=) c.33696T= (p.His11232=) c.33555T= (p.His11185=) c.59598T= (p.His19866=) c.54996T= (p.His18332=) c.54993T= (p.His18331=) c.52035T= (p.His17345=) c.33651T= (p.His11217=) c.55146T= (p.His18382=) c.55143T= (p.His18381=) c.54576T= (p.His18192=) c.51918T= (p.His17306=) c.51837T= (p.His17279=) c.33600T= (p.His11200=) c.23454T= (p.His7818=) | |
| 2 | g.178591020A>C | CA349480119 | TTN,TTN-AS1 | c.53001T>G (p.His17667Gln) c.34086T>G (p.His11362Gln) c.33885T>G (p.His11295Gln) c.33510T>G (p.His11170Gln) c.60705T>G (p.His20235Gln) c.55782T>G (p.His18594Gln) n.597-6576A>C n.3189-119A>C c.59802T>G (p.His19934Gln) c.33696T>G (p.His11232Gln) c.33555T>G (p.His11185Gln) c.59598T>G (p.His19866Gln) c.54996T>G (p.His18332Gln) c.54993T>G (p.His18331Gln) c.52035T>G (p.His17345Gln) c.33651T>G (p.His11217Gln) c.55146T>G (p.His18382Gln) c.55143T>G (p.His18381Gln) c.54576T>G (p.His18192Gln) c.51918T>G (p.His17306Gln) c.51837T>G (p.His17279Gln) c.33600T>G (p.His11200Gln) c.23454T>G (p.His7818Gln) |