Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178591004C>ACA349479965TTN,TTN-AS1c.55798G>T (p.Glu18600Ter)
c.60721G>T (p.Glu20241Ter)
c.33526G>T (p.Glu11176Ter)
c.53017G>T (p.Glu17673Ter)
c.33901G>T (p.Glu11301Ter)
c.34102G>T (p.Glu11368Ter)
n.597-6592C>A
n.3189-135C>A
c.59818G>T (p.Glu19940Ter)
c.33712G>T (p.Glu11238Ter)
c.33571G>T (p.Glu11191Ter)
c.59614G>T (p.Glu19872Ter)
c.55012G>T (p.Glu18338Ter)
c.55009G>T (p.Glu18337Ter)
c.52051G>T (p.Glu17351Ter)
c.33667G>T (p.Glu11223Ter)
c.55162G>T (p.Glu18388Ter)
c.55159G>T (p.Glu18387Ter)
c.54592G>T (p.Glu18198Ter)
c.51934G>T (p.Glu17312Ter)
c.51853G>T (p.Glu17285Ter)
c.33616G>T (p.Glu11206Ter)
c.23470G>T (p.Glu7824Ter)
2g.178591004C>GCA140179TTN,TTN-AS1c.55798G>C (p.Glu18600Gln)
c.60721G>C (p.Glu20241Gln)
c.33526G>C (p.Glu11176Gln)
c.53017G>C (p.Glu17673Gln)
c.33901G>C (p.Glu11301Gln)
c.34102G>C (p.Glu11368Gln)
n.597-6592C>G
n.3189-135C>G
c.59818G>C (p.Glu19940Gln)
c.33712G>C (p.Glu11238Gln)
c.33571G>C (p.Glu11191Gln)
c.59614G>C (p.Glu19872Gln)
c.55012G>C (p.Glu18338Gln)
c.55009G>C (p.Glu18337Gln)
c.52051G>C (p.Glu17351Gln)
c.33667G>C (p.Glu11223Gln)
c.55162G>C (p.Glu18388Gln)
c.55159G>C (p.Glu18387Gln)
c.54592G>C (p.Glu18198Gln)
c.51934G>C (p.Glu17312Gln)
c.51853G>C (p.Glu17285Gln)
c.33616G>C (p.Glu11206Gln)
c.23470G>C (p.Glu7824Gln)
ClinVar dbSNP ExAC gnomAD
2g.178591004C>TCA349479963TTN,TTN-AS1c.55798G>A (p.Glu18600Lys)
c.60721G>A (p.Glu20241Lys)
c.33526G>A (p.Glu11176Lys)
c.53017G>A (p.Glu17673Lys)
c.33901G>A (p.Glu11301Lys)
c.34102G>A (p.Glu11368Lys)
n.597-6592C>T
n.3189-135C>T
c.59818G>A (p.Glu19940Lys)
c.33712G>A (p.Glu11238Lys)
c.33571G>A (p.Glu11191Lys)
c.59614G>A (p.Glu19872Lys)
c.55012G>A (p.Glu18338Lys)
c.55009G>A (p.Glu18337Lys)
c.52051G>A (p.Glu17351Lys)
c.33667G>A (p.Glu11223Lys)
c.55162G>A (p.Glu18388Lys)
c.55159G>A (p.Glu18387Lys)
c.54592G>A (p.Glu18198Lys)
c.51934G>A (p.Glu17312Lys)
c.51853G>A (p.Glu17285Lys)
c.33616G>A (p.Glu11206Lys)
c.23470G>A (p.Glu7824Lys)
2g.178591005A>CCA349479967TTN,TTN-AS1c.55797T>G (p.Cys18599Trp)
c.60720T>G (p.Cys20240Trp)
c.33525T>G (p.Cys11175Trp)
c.53016T>G (p.Cys17672Trp)
c.33900T>G (p.Cys11300Trp)
c.34101T>G (p.Cys11367Trp)
n.597-6591A>C
n.3189-134A>C
c.59817T>G (p.Cys19939Trp)
c.33711T>G (p.Cys11237Trp)
c.33570T>G (p.Cys11190Trp)
c.59613T>G (p.Cys19871Trp)
c.55011T>G (p.Cys18337Trp)
c.55008T>G (p.Cys18336Trp)
c.52050T>G (p.Cys17350Trp)
c.33666T>G (p.Cys11222Trp)
c.55161T>G (p.Cys18387Trp)
c.55158T>G (p.Cys18386Trp)
c.54591T>G (p.Cys18197Trp)
c.51933T>G (p.Cys17311Trp)
c.51852T>G (p.Cys17284Trp)
c.33615T>G (p.Cys11205Trp)
c.23469T>G (p.Cys7823Trp)
2g.178591005A>GCA430266353TTN,TTN-AS1c.55797T>C (p.Cys18599=)
c.60720T>C (p.Cys20240=)
c.33525T>C (p.Cys11175=)
c.53016T>C (p.Cys17672=)
c.33900T>C (p.Cys11300=)
c.34101T>C (p.Cys11367=)
n.597-6591A>G
n.3189-134A>G
c.59817T>C (p.Cys19939=)
c.33711T>C (p.Cys11237=)
c.33570T>C (p.Cys11190=)
c.59613T>C (p.Cys19871=)
c.55011T>C (p.Cys18337=)
c.55008T>C (p.Cys18336=)
c.52050T>C (p.Cys17350=)
c.33666T>C (p.Cys11222=)
c.55161T>C (p.Cys18387=)
c.55158T>C (p.Cys18386=)
c.54591T>C (p.Cys18197=)
c.51933T>C (p.Cys17311=)
c.51852T>C (p.Cys17284=)
c.33615T>C (p.Cys11205=)
c.23469T>C (p.Cys7823=)
2g.178591005A>TCA349479971TTN,TTN-AS1c.55797T>A (p.Cys18599Ter)
c.60720T>A (p.Cys20240Ter)
c.33525T>A (p.Cys11175Ter)
c.53016T>A (p.Cys17672Ter)
c.33900T>A (p.Cys11300Ter)
c.34101T>A (p.Cys11367Ter)
n.597-6591A>T
n.3189-134A>T
c.59817T>A (p.Cys19939Ter)
c.33711T>A (p.Cys11237Ter)
c.33570T>A (p.Cys11190Ter)
c.59613T>A (p.Cys19871Ter)
c.55011T>A (p.Cys18337Ter)
c.55008T>A (p.Cys18336Ter)
c.52050T>A (p.Cys17350Ter)
c.33666T>A (p.Cys11222Ter)
c.55161T>A (p.Cys18387Ter)
c.55158T>A (p.Cys18386Ter)
c.54591T>A (p.Cys18197Ter)
c.51933T>A (p.Cys17311Ter)
c.51852T>A (p.Cys17284Ter)
c.33615T>A (p.Cys11205Ter)
c.23469T>A (p.Cys7823Ter)
2g.178591006C>ACA349479974TTN,TTN-AS1c.55796G>T (p.Cys18599Phe)
c.60719G>T (p.Cys20240Phe)
c.33524G>T (p.Cys11175Phe)
c.53015G>T (p.Cys17672Phe)
c.33899G>T (p.Cys11300Phe)
c.34100G>T (p.Cys11367Phe)
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)
2g.178591006C>GCA349479977TTN,TTN-AS1c.55796G>C (p.Cys18599Ser)
c.60719G>C (p.Cys20240Ser)
c.33524G>C (p.Cys11175Ser)
c.53015G>C (p.Cys17672Ser)
c.33899G>C (p.Cys11300Ser)
c.34100G>C (p.Cys11367Ser)
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)
2g.178591006C>TCA60968721TTN,TTN-AS1c.55796G>A (p.Cys18599Tyr)
c.60719G>A (p.Cys20240Tyr)
c.33524G>A (p.Cys11175Tyr)
c.53015G>A (p.Cys17672Tyr)
c.33899G>A (p.Cys11300Tyr)
c.34100G>A (p.Cys11367Tyr)
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
2g.178591007A>CCA349479980TTN,TTN-AS1c.55795T>G (p.Cys18599Gly)
c.60718T>G (p.Cys20240Gly)
c.33523T>G (p.Cys11175Gly)
c.53014T>G (p.Cys17672Gly)
c.33898T>G (p.Cys11300Gly)
c.34099T>G (p.Cys11367Gly)
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)
2g.178591007A>GCA349479981TTN,TTN-AS1c.55795T>C (p.Cys18599Arg)
c.60718T>C (p.Cys20240Arg)
c.33523T>C (p.Cys11175Arg)
c.53014T>C (p.Cys17672Arg)
c.33898T>C (p.Cys11300Arg)
c.34099T>C (p.Cys11367Arg)
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)
2g.178591007A>TCA349479993TTN,TTN-AS1c.55795T>A (p.Cys18599Ser)
c.60718T>A (p.Cys20240Ser)
c.33523T>A (p.Cys11175Ser)
c.53014T>A (p.Cys17672Ser)
c.33898T>A (p.Cys11300Ser)
c.34099T>A (p.Cys11367Ser)
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)
2g.178591008G>ACA430266354TTN,TTN-AS1c.55794C>T (p.Gly18598=)
c.60717C>T (p.Gly20239=)
c.33522C>T (p.Gly11174=)
c.53013C>T (p.Gly17671=)
c.33897C>T (p.Gly11299=)
c.34098C>T (p.Gly11366=)
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=)
2g.178591008G>CCA430266355TTN,TTN-AS1c.55794C>G (p.Gly18598=)
c.60717C>G (p.Gly20239=)
c.33522C>G (p.Gly11174=)
c.53013C>G (p.Gly17671=)
c.33897C>G (p.Gly11299=)
c.34098C>G (p.Gly11366=)
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=)
2g.178591008G>TCA430266356TTN,TTN-AS1c.55794C>A (p.Gly18598=)
c.60717C>A (p.Gly20239=)
c.33522C>A (p.Gly11174=)
c.53013C>A (p.Gly17671=)
c.33897C>A (p.Gly11299=)
c.34098C>A (p.Gly11366=)
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=)
2g.178591009C>ACA349479997TTN,TTN-AS1c.55793G>T (p.Gly18598Val)
c.60716G>T (p.Gly20239Val)
c.33521G>T (p.Gly11174Val)
c.53012G>T (p.Gly17671Val)
c.33896G>T (p.Gly11299Val)
c.34097G>T (p.Gly11366Val)
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)
2g.178591009C>GCA349479999TTN,TTN-AS1c.55793G>C (p.Gly18598Ala)
c.60716G>C (p.Gly20239Ala)
c.33521G>C (p.Gly11174Ala)
c.53012G>C (p.Gly17671Ala)
c.33896G>C (p.Gly11299Ala)
c.34097G>C (p.Gly11366Ala)
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)
2g.178591009C>TCA349480001TTN,TTN-AS1c.55793G>A (p.Gly18598Asp)
c.60716G>A (p.Gly20239Asp)
c.33521G>A (p.Gly11174Asp)
c.53012G>A (p.Gly17671Asp)
c.33896G>A (p.Gly11299Asp)
c.34097G>A (p.Gly11366Asp)
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)
2g.178591010C>ACA349480003TTN,TTN-AS1c.55792G>T (p.Gly18598Cys)
c.60715G>T (p.Gly20239Cys)
c.33520G>T (p.Gly11174Cys)
c.53011G>T (p.Gly17671Cys)
c.33895G>T (p.Gly11299Cys)
c.34096G>T (p.Gly11366Cys)
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)
2g.178591010C>GCA349480011TTN,TTN-AS1c.55792G>C (p.Gly18598Arg)
c.60715G>C (p.Gly20239Arg)
c.33520G>C (p.Gly11174Arg)
c.53011G>C (p.Gly17671Arg)
c.33895G>C (p.Gly11299Arg)
c.34096G>C (p.Gly11366Arg)
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)
2g.178591010C>TCA349480013TTN,TTN-AS1c.55792G>A (p.Gly18598Ser)
c.60715G>A (p.Gly20239Ser)
c.33520G>A (p.Gly11174Ser)
c.53011G>A (p.Gly17671Ser)
c.33895G>A (p.Gly11299Ser)
c.34096G>A (p.Gly11366Ser)
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)
2g.178591011C>ACA349480017TTN,TTN-AS1c.55791G>T (p.Lys18597Asn)
c.60714G>T (p.Lys20238Asn)
c.33519G>T (p.Lys11173Asn)
c.53010G>T (p.Lys17670Asn)
c.33894G>T (p.Lys11298Asn)
c.34095G>T (p.Lys11365Asn)
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)
2g.178591011C>GCA349480022TTN,TTN-AS1c.55791G>C (p.Lys18597Asn)
c.60714G>C (p.Lys20238Asn)
c.33519G>C (p.Lys11173Asn)
c.53010G>C (p.Lys17670Asn)
c.33894G>C (p.Lys11298Asn)
c.34095G>C (p.Lys11365Asn)
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)
2g.178591011C>TCA430266360TTN,TTN-AS1c.55791G>A (p.Lys18597=)
c.60714G>A (p.Lys20238=)
c.33519G>A (p.Lys11173=)
c.53010G>A (p.Lys17670=)
c.33894G>A (p.Lys11298=)
c.34095G>A (p.Lys11365=)
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=)
2g.178591012T>ACA349480026TTN,TTN-AS1c.55790A>T (p.Lys18597Met)
c.60713A>T (p.Lys20238Met)
c.33518A>T (p.Lys11173Met)
c.53009A>T (p.Lys17670Met)
c.33893A>T (p.Lys11298Met)
c.34094A>T (p.Lys11365Met)
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)
2g.178591012T>CCA349480050TTN,TTN-AS1c.55790A>G (p.Lys18597Arg)
c.60713A>G (p.Lys20238Arg)
c.33518A>G (p.Lys11173Arg)
c.53009A>G (p.Lys17670Arg)
c.33893A>G (p.Lys11298Arg)
c.34094A>G (p.Lys11365Arg)
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)
2g.178591012T>GCA349480028TTN,TTN-AS1c.55790A>C (p.Lys18597Thr)
c.60713A>C (p.Lys20238Thr)
c.33518A>C (p.Lys11173Thr)
c.53009A>C (p.Lys17670Thr)
c.33893A>C (p.Lys11298Thr)
c.34094A>C (p.Lys11365Thr)
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)
2g.178591013T>ACA349480064TTN,TTN-AS1c.55789A>T (p.Lys18597Ter)
c.60712A>T (p.Lys20238Ter)
c.33517A>T (p.Lys11173Ter)
c.53008A>T (p.Lys17670Ter)
c.33892A>T (p.Lys11298Ter)
c.34093A>T (p.Lys11365Ter)
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)
2g.178591013T>CCA349480067TTN,TTN-AS1c.55789A>G (p.Lys18597Glu)
c.60712A>G (p.Lys20238Glu)
c.33517A>G (p.Lys11173Glu)
c.53008A>G (p.Lys17670Glu)
c.33892A>G (p.Lys11298Glu)
c.34093A>G (p.Lys11365Glu)
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)
2g.178591013T>GCA349480065TTN,TTN-AS1c.55789A>C (p.Lys18597Gln)
c.60712A>C (p.Lys20238Gln)
c.33517A>C (p.Lys11173Gln)
c.53008A>C (p.Lys17670Gln)
c.33892A>C (p.Lys11298Gln)
c.34093A>C (p.Lys11365Gln)
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)
2g.178591014C>ACA349480068TTN,TTN-AS1c.55788G>T (p.Gln18596His)
c.60711G>T (p.Gln20237His)
c.33516G>T (p.Gln11172His)
c.53007G>T (p.Gln17669His)
c.33891G>T (p.Gln11297His)
c.34092G>T (p.Gln11364His)
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)
2g.178591014C>GCA349480071TTN,TTN-AS1c.55788G>C (p.Gln18596His)
c.60711G>C (p.Gln20237His)
c.33516G>C (p.Gln11172His)
c.53007G>C (p.Gln17669His)
c.33891G>C (p.Gln11297His)
c.34092G>C (p.Gln11364His)
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)
2g.178591014C>TCA430266361TTN,TTN-AS1c.55788G>A (p.Gln18596=)
c.60711G>A (p.Gln20237=)
c.33516G>A (p.Gln11172=)
c.53007G>A (p.Gln17669=)
c.33891G>A (p.Gln11297=)
c.34092G>A (p.Gln11364=)
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=)
2g.178591015T>ACA349480076TTN,TTN-AS1c.55787A>T (p.Gln18596Leu)
c.60710A>T (p.Gln20237Leu)
c.33515A>T (p.Gln11172Leu)
c.53006A>T (p.Gln17669Leu)
c.33890A>T (p.Gln11297Leu)
c.34091A>T (p.Gln11364Leu)
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)
2g.178591015T>CCA349480081TTN,TTN-AS1c.55787A>G (p.Gln18596Arg)
c.60710A>G (p.Gln20237Arg)
c.33515A>G (p.Gln11172Arg)
c.53006A>G (p.Gln17669Arg)
c.33890A>G (p.Gln11297Arg)
c.34091A>G (p.Gln11364Arg)
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)
2g.178591015T>GCA349480079TTN,TTN-AS1c.55787A>C (p.Gln18596Pro)
c.60710A>C (p.Gln20237Pro)
c.33515A>C (p.Gln11172Pro)
c.53006A>C (p.Gln17669Pro)
c.33890A>C (p.Gln11297Pro)
c.34091A>C (p.Gln11364Pro)
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)
2g.178591016G>ACA349480083TTN,TTN-AS1c.55786C>T (p.Gln18596Ter)
c.60709C>T (p.Gln20237Ter)
c.33514C>T (p.Gln11172Ter)
c.53005C>T (p.Gln17669Ter)
c.33889C>T (p.Gln11297Ter)
c.34090C>T (p.Gln11364Ter)
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)
2g.178591016G>CCA349480084TTN,TTN-AS1c.55786C>G (p.Gln18596Glu)
c.60709C>G (p.Gln20237Glu)
c.33514C>G (p.Gln11172Glu)
c.53005C>G (p.Gln17669Glu)
c.33889C>G (p.Gln11297Glu)
c.34090C>G (p.Gln11364Glu)
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)
2g.178591016G>TCA349480085TTN,TTN-AS1c.55786C>A (p.Gln18596Lys)
c.60709C>A (p.Gln20237Lys)
c.33514C>A (p.Gln11172Lys)
c.53005C>A (p.Gln17669Lys)
c.33889C>A (p.Gln11297Lys)
c.34090C>A (p.Gln11364Lys)
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)
2g.178591017C>ACA430266365TTN,TTN-AS1c.55785G>T (p.Leu18595=)
c.60708G>T (p.Leu20236=)
c.33513G>T (p.Leu11171=)
c.53004G>T (p.Leu17668=)
c.33888G>T (p.Leu11296=)
c.34089G>T (p.Leu11363=)
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=)
2g.178591017C>GCA430266367TTN,TTN-AS1c.55785G>C (p.Leu18595=)
c.60708G>C (p.Leu20236=)
c.33513G>C (p.Leu11171=)
c.53004G>C (p.Leu17668=)
c.33888G>C (p.Leu11296=)
c.34089G>C (p.Leu11363=)
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=)
2g.178591017C>TCA430266366TTN,TTN-AS1c.55785G>A (p.Leu18595=)
c.60708G>A (p.Leu20236=)
c.33513G>A (p.Leu11171=)
c.53004G>A (p.Leu17668=)
c.33888G>A (p.Leu11296=)
c.34089G>A (p.Leu11363=)
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=)
2g.178591018A>CCA1992455TTN,TTN-AS1c.55784T>G (p.Leu18595Arg)
c.60707T>G (p.Leu20236Arg)
c.33512T>G (p.Leu11171Arg)
c.53003T>G (p.Leu17668Arg)
c.33887T>G (p.Leu11296Arg)
c.34088T>G (p.Leu11363Arg)
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
2g.178591018A>GCA349480088TTN,TTN-AS1c.55784T>C (p.Leu18595Pro)
c.60707T>C (p.Leu20236Pro)
c.33512T>C (p.Leu11171Pro)
c.53003T>C (p.Leu17668Pro)
c.33887T>C (p.Leu11296Pro)
c.34088T>C (p.Leu11363Pro)
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)
2g.178591018A>TCA349480103TTN,TTN-AS1c.55784T>A (p.Leu18595Gln)
c.60707T>A (p.Leu20236Gln)
c.33512T>A (p.Leu11171Gln)
c.53003T>A (p.Leu17668Gln)
c.33887T>A (p.Leu11296Gln)
c.34088T>A (p.Leu11363Gln)
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)
2g.178591019G>ACA430266369TTN,TTN-AS1c.55783C>T (p.Leu18595=)
c.60706C>T (p.Leu20236=)
c.33511C>T (p.Leu11171=)
c.53002C>T (p.Leu17668=)
c.33886C>T (p.Leu11296=)
c.34087C>T (p.Leu11363=)
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=)
2g.178591019G>CCA349480107TTN,TTN-AS1c.55783C>G (p.Leu18595Val)
c.60706C>G (p.Leu20236Val)
c.33511C>G (p.Leu11171Val)
c.53002C>G (p.Leu17668Val)
c.33886C>G (p.Leu11296Val)
c.34087C>G (p.Leu11363Val)
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)
2g.178591019G>TCA349480112TTN,TTN-AS1c.55783C>A (p.Leu18595Met)
c.60706C>A (p.Leu20236Met)
c.33511C>A (p.Leu11171Met)
c.53002C>A (p.Leu17668Met)
c.33886C>A (p.Leu11296Met)
c.34087C>A (p.Leu11363Met)
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)
2g.178591020A>CCA349480119TTN,TTN-AS1c.55782T>G (p.His18594Gln)
c.60705T>G (p.His20235Gln)
c.33510T>G (p.His11170Gln)
c.53001T>G (p.His17667Gln)
c.33885T>G (p.His11295Gln)
c.34086T>G (p.His11362Gln)
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)
2g.178591020A>GCA430266371TTN,TTN-AS1c.55782T>C (p.His18594=)
c.60705T>C (p.His20235=)
c.33510T>C (p.His11170=)
c.53001T>C (p.His17667=)
c.33885T>C (p.His11295=)
c.34086T>C (p.His11362=)
n.597-6576A>G
n.3189-119A>G
c.59802T>C (p.His19934=)
c.33696T>C (p.His11232=)
c.33555T>C (p.His11185=)
c.59598T>C (p.His19866=)
c.54996T>C (p.His18332=)
c.54993T>C (p.His18331=)
c.52035T>C (p.His17345=)
c.33651T>C (p.His11217=)
c.55146T>C (p.His18382=)
c.55143T>C (p.His18381=)
c.54576T>C (p.His18192=)
c.51918T>C (p.His17306=)
c.51837T>C (p.His17279=)
c.33600T>C (p.His11200=)
c.23454T>C (p.His7818=)

Number of alleles fetched