Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178549764G>ACA349495511TTN,TTN-AS1c.84254C>T (p.Thr28085Ile)
c.65339C>T (p.Thr21780Ile)
c.65138C>T (p.Thr21713Ile)
c.64763C>T (p.Thr21588Ile)
c.91958C>T (p.Thr30653Ile)
c.87035C>T (p.Thr29012Ile)
n.447-21536G>A
n.2043+7403G>A
c.91055C>T (p.Thr30352Ile)
c.64949C>T (p.Thr21650Ile)
c.64808C>T (p.Thr21603Ile)
c.90851C>T (p.Thr30284Ile)
c.86249C>T (p.Thr28750Ile)
c.86246C>T (p.Thr28749Ile)
c.83288C>T (p.Thr27763Ile)
c.64904C>T (p.Thr21635Ile)
c.86399C>T (p.Thr28800Ile)
c.86396C>T (p.Thr28799Ile)
c.85829C>T (p.Thr28610Ile)
c.83171C>T (p.Thr27724Ile)
c.83090C>T (p.Thr27697Ile)
c.64853C>T (p.Thr21618Ile)
c.54707C>T (p.Thr18236Ile)
 gnomAD v4
2g.178549764G>CCA349495513TTN,TTN-AS1c.84254C>G (p.Thr28085Ser)
c.65339C>G (p.Thr21780Ser)
c.65138C>G (p.Thr21713Ser)
c.64763C>G (p.Thr21588Ser)
c.91958C>G (p.Thr30653Ser)
c.87035C>G (p.Thr29012Ser)
n.447-21536G>C
n.2043+7403G>C
c.91055C>G (p.Thr30352Ser)
c.64949C>G (p.Thr21650Ser)
c.64808C>G (p.Thr21603Ser)
c.90851C>G (p.Thr30284Ser)
c.86249C>G (p.Thr28750Ser)
c.86246C>G (p.Thr28749Ser)
c.83288C>G (p.Thr27763Ser)
c.64904C>G (p.Thr21635Ser)
c.86399C>G (p.Thr28800Ser)
c.86396C>G (p.Thr28799Ser)
c.85829C>G (p.Thr28610Ser)
c.83171C>G (p.Thr27724Ser)
c.83090C>G (p.Thr27697Ser)
c.64853C>G (p.Thr21618Ser)
c.54707C>G (p.Thr18236Ser)
2g.178549764G>TCA349495516TTN,TTN-AS1c.84254C>A (p.Thr28085Asn)
c.65339C>A (p.Thr21780Asn)
c.65138C>A (p.Thr21713Asn)
c.64763C>A (p.Thr21588Asn)
c.91958C>A (p.Thr30653Asn)
c.87035C>A (p.Thr29012Asn)
n.447-21536G>T
n.2043+7403G>T
c.91055C>A (p.Thr30352Asn)
c.64949C>A (p.Thr21650Asn)
c.64808C>A (p.Thr21603Asn)
c.90851C>A (p.Thr30284Asn)
c.86249C>A (p.Thr28750Asn)
c.86246C>A (p.Thr28749Asn)
c.83288C>A (p.Thr27763Asn)
c.64904C>A (p.Thr21635Asn)
c.86399C>A (p.Thr28800Asn)
c.86396C>A (p.Thr28799Asn)
c.85829C>A (p.Thr28610Asn)
c.83171C>A (p.Thr27724Asn)
c.83090C>A (p.Thr27697Asn)
c.64853C>A (p.Thr21618Asn)
c.54707C>A (p.Thr18236Asn)
2g.178549765T>ACA349495522TTN,TTN-AS1c.84253A>T (p.Thr28085Ser)
c.65338A>T (p.Thr21780Ser)
c.65137A>T (p.Thr21713Ser)
c.64762A>T (p.Thr21588Ser)
c.91957A>T (p.Thr30653Ser)
c.87034A>T (p.Thr29012Ser)
n.447-21535T>A
n.2043+7404T>A
c.91054A>T (p.Thr30352Ser)
c.64948A>T (p.Thr21650Ser)
c.64807A>T (p.Thr21603Ser)
c.90850A>T (p.Thr30284Ser)
c.86248A>T (p.Thr28750Ser)
c.86245A>T (p.Thr28749Ser)
c.83287A>T (p.Thr27763Ser)
c.64903A>T (p.Thr21635Ser)
c.86398A>T (p.Thr28800Ser)
c.86395A>T (p.Thr28799Ser)
c.85828A>T (p.Thr28610Ser)
c.83170A>T (p.Thr27724Ser)
c.83089A>T (p.Thr27697Ser)
c.64852A>T (p.Thr21618Ser)
c.54706A>T (p.Thr18236Ser)
2g.178549765T>CCA349495523TTN,TTN-AS1c.84253A>G (p.Thr28085Ala)
c.65338A>G (p.Thr21780Ala)
c.65137A>G (p.Thr21713Ala)
c.64762A>G (p.Thr21588Ala)
c.91957A>G (p.Thr30653Ala)
c.87034A>G (p.Thr29012Ala)
n.447-21535T>C
n.2043+7404T>C
c.91054A>G (p.Thr30352Ala)
c.64948A>G (p.Thr21650Ala)
c.64807A>G (p.Thr21603Ala)
c.90850A>G (p.Thr30284Ala)
c.86248A>G (p.Thr28750Ala)
c.86245A>G (p.Thr28749Ala)
c.83287A>G (p.Thr27763Ala)
c.64903A>G (p.Thr21635Ala)
c.86398A>G (p.Thr28800Ala)
c.86395A>G (p.Thr28799Ala)
c.85828A>G (p.Thr28610Ala)
c.83170A>G (p.Thr27724Ala)
c.83089A>G (p.Thr27697Ala)
c.64852A>G (p.Thr21618Ala)
c.54706A>G (p.Thr18236Ala)
2g.178549765T>GCA349495524TTN,TTN-AS1c.84253A>C (p.Thr28085Pro)
c.65338A>C (p.Thr21780Pro)
c.65137A>C (p.Thr21713Pro)
c.64762A>C (p.Thr21588Pro)
c.91957A>C (p.Thr30653Pro)
c.87034A>C (p.Thr29012Pro)
n.447-21535T>G
n.2043+7404T>G
c.91054A>C (p.Thr30352Pro)
c.64948A>C (p.Thr21650Pro)
c.64807A>C (p.Thr21603Pro)
c.90850A>C (p.Thr30284Pro)
c.86248A>C (p.Thr28750Pro)
c.86245A>C (p.Thr28749Pro)
c.83287A>C (p.Thr27763Pro)
c.64903A>C (p.Thr21635Pro)
c.86398A>C (p.Thr28800Pro)
c.86395A>C (p.Thr28799Pro)
c.85828A>C (p.Thr28610Pro)
c.83170A>C (p.Thr27724Pro)
c.83089A>C (p.Thr27697Pro)
c.64852A>C (p.Thr21618Pro)
c.54706A>C (p.Thr18236Pro)
2g.178549766T>ACA430244774TTN,TTN-AS1c.84252A>T (p.Ile28084=)
c.65337A>T (p.Ile21779=)
c.65136A>T (p.Ile21712=)
c.64761A>T (p.Ile21587=)
c.91956A>T (p.Ile30652=)
c.87033A>T (p.Ile29011=)
n.447-21534T>A
n.2043+7405T>A
c.91053A>T (p.Ile30351=)
c.64947A>T (p.Ile21649=)
c.64806A>T (p.Ile21602=)
c.90849A>T (p.Ile30283=)
c.86247A>T (p.Ile28749=)
c.86244A>T (p.Ile28748=)
c.83286A>T (p.Ile27762=)
c.64902A>T (p.Ile21634=)
c.86397A>T (p.Ile28799=)
c.86394A>T (p.Ile28798=)
c.85827A>T (p.Ile28609=)
c.83169A>T (p.Ile27723=)
c.83088A>T (p.Ile27696=)
c.64851A>T (p.Ile21617=)
c.54705A>T (p.Ile18235=)
2g.178549766T>CCA349495526TTN,TTN-AS1c.84252A>G (p.Ile28084Met)
c.65337A>G (p.Ile21779Met)
c.65136A>G (p.Ile21712Met)
c.64761A>G (p.Ile21587Met)
c.91956A>G (p.Ile30652Met)
c.87033A>G (p.Ile29011Met)
n.447-21534T>C
n.2043+7405T>C
c.91053A>G (p.Ile30351Met)
c.64947A>G (p.Ile21649Met)
c.64806A>G (p.Ile21602Met)
c.90849A>G (p.Ile30283Met)
c.86247A>G (p.Ile28749Met)
c.86244A>G (p.Ile28748Met)
c.83286A>G (p.Ile27762Met)
c.64902A>G (p.Ile21634Met)
c.86397A>G (p.Ile28799Met)
c.86394A>G (p.Ile28798Met)
c.85827A>G (p.Ile28609Met)
c.83169A>G (p.Ile27723Met)
c.83088A>G (p.Ile27696Met)
c.64851A>G (p.Ile21617Met)
c.54705A>G (p.Ile18235Met)
2g.178549766T>GCA430244775TTN,TTN-AS1c.84252A>C (p.Ile28084=)
c.65337A>C (p.Ile21779=)
c.65136A>C (p.Ile21712=)
c.64761A>C (p.Ile21587=)
c.91956A>C (p.Ile30652=)
c.87033A>C (p.Ile29011=)
n.447-21534T>G
n.2043+7405T>G
c.91053A>C (p.Ile30351=)
c.64947A>C (p.Ile21649=)
c.64806A>C (p.Ile21602=)
c.90849A>C (p.Ile30283=)
c.86247A>C (p.Ile28749=)
c.86244A>C (p.Ile28748=)
c.83286A>C (p.Ile27762=)
c.64902A>C (p.Ile21634=)
c.86397A>C (p.Ile28799=)
c.86394A>C (p.Ile28798=)
c.85827A>C (p.Ile28609=)
c.83169A>C (p.Ile27723=)
c.83088A>C (p.Ile27696=)
c.64851A>C (p.Ile21617=)
c.54705A>C (p.Ile18235=)
2g.178549767A>CCA349495530TTN,TTN-AS1c.84251T>G (p.Ile28084Arg)
c.65336T>G (p.Ile21779Arg)
c.65135T>G (p.Ile21712Arg)
c.64760T>G (p.Ile21587Arg)
c.91955T>G (p.Ile30652Arg)
c.87032T>G (p.Ile29011Arg)
n.447-21533A>C
n.2043+7406A>C
c.91052T>G (p.Ile30351Arg)
c.64946T>G (p.Ile21649Arg)
c.64805T>G (p.Ile21602Arg)
c.90848T>G (p.Ile30283Arg)
c.86246T>G (p.Ile28749Arg)
c.86243T>G (p.Ile28748Arg)
c.83285T>G (p.Ile27762Arg)
c.64901T>G (p.Ile21634Arg)
c.86396T>G (p.Ile28799Arg)
c.86393T>G (p.Ile28798Arg)
c.85826T>G (p.Ile28609Arg)
c.83168T>G (p.Ile27723Arg)
c.83087T>G (p.Ile27696Arg)
c.64850T>G (p.Ile21617Arg)
c.54704T>G (p.Ile18235Arg)
2g.178549767A>GCA349495533TTN,TTN-AS1c.84251T>C (p.Ile28084Thr)
c.65336T>C (p.Ile21779Thr)
c.65135T>C (p.Ile21712Thr)
c.64760T>C (p.Ile21587Thr)
c.91955T>C (p.Ile30652Thr)
c.87032T>C (p.Ile29011Thr)
n.447-21533A>G
n.2043+7406A>G
c.91052T>C (p.Ile30351Thr)
c.64946T>C (p.Ile21649Thr)
c.64805T>C (p.Ile21602Thr)
c.90848T>C (p.Ile30283Thr)
c.86246T>C (p.Ile28749Thr)
c.86243T>C (p.Ile28748Thr)
c.83285T>C (p.Ile27762Thr)
c.64901T>C (p.Ile21634Thr)
c.86396T>C (p.Ile28799Thr)
c.86393T>C (p.Ile28798Thr)
c.85826T>C (p.Ile28609Thr)
c.83168T>C (p.Ile27723Thr)
c.83087T>C (p.Ile27696Thr)
c.64850T>C (p.Ile21617Thr)
c.54704T>C (p.Ile18235Thr)
2g.178549767A>TCA349495534TTN,TTN-AS1c.84251T>A (p.Ile28084Lys)
c.65336T>A (p.Ile21779Lys)
c.65135T>A (p.Ile21712Lys)
c.64760T>A (p.Ile21587Lys)
c.91955T>A (p.Ile30652Lys)
c.87032T>A (p.Ile29011Lys)
n.447-21533A>T
n.2043+7406A>T
c.91052T>A (p.Ile30351Lys)
c.64946T>A (p.Ile21649Lys)
c.64805T>A (p.Ile21602Lys)
c.90848T>A (p.Ile30283Lys)
c.86246T>A (p.Ile28749Lys)
c.86243T>A (p.Ile28748Lys)
c.83285T>A (p.Ile27762Lys)
c.64901T>A (p.Ile21634Lys)
c.86396T>A (p.Ile28799Lys)
c.86393T>A (p.Ile28798Lys)
c.85826T>A (p.Ile28609Lys)
c.83168T>A (p.Ile27723Lys)
c.83087T>A (p.Ile27696Lys)
c.64850T>A (p.Ile21617Lys)
c.54704T>A (p.Ile18235Lys)
2g.178549768T>ACA349495539TTN,TTN-AS1c.84250A>T (p.Ile28084Leu)
c.65335A>T (p.Ile21779Leu)
c.65134A>T (p.Ile21712Leu)
c.64759A>T (p.Ile21587Leu)
c.91954A>T (p.Ile30652Leu)
c.87031A>T (p.Ile29011Leu)
n.447-21532T>A
n.2043+7407T>A
c.91051A>T (p.Ile30351Leu)
c.64945A>T (p.Ile21649Leu)
c.64804A>T (p.Ile21602Leu)
c.90847A>T (p.Ile30283Leu)
c.86245A>T (p.Ile28749Leu)
c.86242A>T (p.Ile28748Leu)
c.83284A>T (p.Ile27762Leu)
c.64900A>T (p.Ile21634Leu)
c.86395A>T (p.Ile28799Leu)
c.86392A>T (p.Ile28798Leu)
c.85825A>T (p.Ile28609Leu)
c.83167A>T (p.Ile27723Leu)
c.83086A>T (p.Ile27696Leu)
c.64849A>T (p.Ile21617Leu)
c.54703A>T (p.Ile18235Leu)
2g.178549768T>CCA349495538TTN,TTN-AS1c.84250A>G (p.Ile28084Val)
c.65335A>G (p.Ile21779Val)
c.65134A>G (p.Ile21712Val)
c.64759A>G (p.Ile21587Val)
c.91954A>G (p.Ile30652Val)
c.87031A>G (p.Ile29011Val)
n.447-21532T>C
n.2043+7407T>C
c.91051A>G (p.Ile30351Val)
c.64945A>G (p.Ile21649Val)
c.64804A>G (p.Ile21602Val)
c.90847A>G (p.Ile30283Val)
c.86245A>G (p.Ile28749Val)
c.86242A>G (p.Ile28748Val)
c.83284A>G (p.Ile27762Val)
c.64900A>G (p.Ile21634Val)
c.86395A>G (p.Ile28799Val)
c.86392A>G (p.Ile28798Val)
c.85825A>G (p.Ile28609Val)
c.83167A>G (p.Ile27723Val)
c.83086A>G (p.Ile27696Val)
c.64849A>G (p.Ile21617Val)
c.54703A>G (p.Ile18235Val)
2g.178549768T>GCA349495536TTN,TTN-AS1c.84250A>C (p.Ile28084Leu)
c.65335A>C (p.Ile21779Leu)
c.65134A>C (p.Ile21712Leu)
c.64759A>C (p.Ile21587Leu)
c.91954A>C (p.Ile30652Leu)
c.87031A>C (p.Ile29011Leu)
n.447-21532T>G
n.2043+7407T>G
c.91051A>C (p.Ile30351Leu)
c.64945A>C (p.Ile21649Leu)
c.64804A>C (p.Ile21602Leu)
c.90847A>C (p.Ile30283Leu)
c.86245A>C (p.Ile28749Leu)
c.86242A>C (p.Ile28748Leu)
c.83284A>C (p.Ile27762Leu)
c.64900A>C (p.Ile21634Leu)
c.86395A>C (p.Ile28799Leu)
c.86392A>C (p.Ile28798Leu)
c.85825A>C (p.Ile28609Leu)
c.83167A>C (p.Ile27723Leu)
c.83086A>C (p.Ile27696Leu)
c.64849A>C (p.Ile21617Leu)
c.54703A>C (p.Ile18235Leu)
2g.178549769G>ACA430244779TTN,TTN-AS1c.84249C>T (p.Pro28083=)
c.65334C>T (p.Pro21778=)
c.65133C>T (p.Pro21711=)
c.64758C>T (p.Pro21586=)
c.91953C>T (p.Pro30651=)
c.87030C>T (p.Pro29010=)
n.447-21531G>A
n.2043+7408G>A
c.91050C>T (p.Pro30350=)
c.64944C>T (p.Pro21648=)
c.64803C>T (p.Pro21601=)
c.90846C>T (p.Pro30282=)
c.86244C>T (p.Pro28748=)
c.86241C>T (p.Pro28747=)
c.83283C>T (p.Pro27761=)
c.64899C>T (p.Pro21633=)
c.86394C>T (p.Pro28798=)
c.86391C>T (p.Pro28797=)
c.85824C>T (p.Pro28608=)
c.83166C>T (p.Pro27722=)
c.83085C>T (p.Pro27695=)
c.64848C>T (p.Pro21616=)
c.54702C>T (p.Pro18234=)
 dbSNP
2g.178549769G>CCA430244782TTN,TTN-AS1c.84249C>G (p.Pro28083=)
c.65334C>G (p.Pro21778=)
c.65133C>G (p.Pro21711=)
c.64758C>G (p.Pro21586=)
c.91953C>G (p.Pro30651=)
c.87030C>G (p.Pro29010=)
n.447-21531G>C
n.2043+7408G>C
c.91050C>G (p.Pro30350=)
c.64944C>G (p.Pro21648=)
c.64803C>G (p.Pro21601=)
c.90846C>G (p.Pro30282=)
c.86244C>G (p.Pro28748=)
c.86241C>G (p.Pro28747=)
c.83283C>G (p.Pro27761=)
c.64899C>G (p.Pro21633=)
c.86394C>G (p.Pro28798=)
c.86391C>G (p.Pro28797=)
c.85824C>G (p.Pro28608=)
c.83166C>G (p.Pro27722=)
c.83085C>G (p.Pro27695=)
c.64848C>G (p.Pro21616=)
c.54702C>G (p.Pro18234=)
2g.178549769G=CA1310520096TTN,TTN-AS1c.84249C= (p.Pro28083=)
c.65334C= (p.Pro21778=)
c.65133C= (p.Pro21711=)
c.64758C= (p.Pro21586=)
c.91953C= (p.Pro30651=)
c.87030C= (p.Pro29010=)
n.447-21531G=
n.2043+7408G=
c.91050C= (p.Pro30350=)
c.64944C= (p.Pro21648=)
c.64803C= (p.Pro21601=)
c.90846C= (p.Pro30282=)
c.86244C= (p.Pro28748=)
c.86241C= (p.Pro28747=)
c.83283C= (p.Pro27761=)
c.64899C= (p.Pro21633=)
c.86394C= (p.Pro28798=)
c.86391C= (p.Pro28797=)
c.85824C= (p.Pro28608=)
c.83166C= (p.Pro27722=)
c.83085C= (p.Pro27695=)
c.64848C= (p.Pro21616=)
c.54702C= (p.Pro18234=)
2g.178549769G>TCA430244784TTN,TTN-AS1c.84249C>A (p.Pro28083=)
c.65334C>A (p.Pro21778=)
c.65133C>A (p.Pro21711=)
c.64758C>A (p.Pro21586=)
c.91953C>A (p.Pro30651=)
c.87030C>A (p.Pro29010=)
n.447-21531G>T
n.2043+7408G>T
c.91050C>A (p.Pro30350=)
c.64944C>A (p.Pro21648=)
c.64803C>A (p.Pro21601=)
c.90846C>A (p.Pro30282=)
c.86244C>A (p.Pro28748=)
c.86241C>A (p.Pro28747=)
c.83283C>A (p.Pro27761=)
c.64899C>A (p.Pro21633=)
c.86394C>A (p.Pro28798=)
c.86391C>A (p.Pro28797=)
c.85824C>A (p.Pro28608=)
c.83166C>A (p.Pro27722=)
c.83085C>A (p.Pro27695=)
c.64848C>A (p.Pro21616=)
c.54702C>A (p.Pro18234=)
2g.178549770G>ACA349495544TTN,TTN-AS1c.84248C>T (p.Pro28083Leu)
c.65333C>T (p.Pro21778Leu)
c.65132C>T (p.Pro21711Leu)
c.64757C>T (p.Pro21586Leu)
c.91952C>T (p.Pro30651Leu)
c.87029C>T (p.Pro29010Leu)
n.447-21530G>A
n.2043+7409G>A
c.91049C>T (p.Pro30350Leu)
c.64943C>T (p.Pro21648Leu)
c.64802C>T (p.Pro21601Leu)
c.90845C>T (p.Pro30282Leu)
c.86243C>T (p.Pro28748Leu)
c.86240C>T (p.Pro28747Leu)
c.83282C>T (p.Pro27761Leu)
c.64898C>T (p.Pro21633Leu)
c.86393C>T (p.Pro28798Leu)
c.86390C>T (p.Pro28797Leu)
c.85823C>T (p.Pro28608Leu)
c.83165C>T (p.Pro27722Leu)
c.83084C>T (p.Pro27695Leu)
c.64847C>T (p.Pro21616Leu)
c.54701C>T (p.Pro18234Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549770G>CCA349495541TTN,TTN-AS1c.84248C>G (p.Pro28083Arg)
c.65333C>G (p.Pro21778Arg)
c.65132C>G (p.Pro21711Arg)
c.64757C>G (p.Pro21586Arg)
c.91952C>G (p.Pro30651Arg)
c.87029C>G (p.Pro29010Arg)
n.447-21530G>C
n.2043+7409G>C
c.91049C>G (p.Pro30350Arg)
c.64943C>G (p.Pro21648Arg)
c.64802C>G (p.Pro21601Arg)
c.90845C>G (p.Pro30282Arg)
c.86243C>G (p.Pro28748Arg)
c.86240C>G (p.Pro28747Arg)
c.83282C>G (p.Pro27761Arg)
c.64898C>G (p.Pro21633Arg)
c.86393C>G (p.Pro28798Arg)
c.86390C>G (p.Pro28797Arg)
c.85823C>G (p.Pro28608Arg)
c.83165C>G (p.Pro27722Arg)
c.83084C>G (p.Pro27695Arg)
c.64847C>G (p.Pro21616Arg)
c.54701C>G (p.Pro18234Arg)
2g.178549770G>TCA349495545TTN,TTN-AS1c.84248C>A (p.Pro28083His)
c.65333C>A (p.Pro21778His)
c.65132C>A (p.Pro21711His)
c.64757C>A (p.Pro21586His)
c.91952C>A (p.Pro30651His)
c.87029C>A (p.Pro29010His)
n.447-21530G>T
n.2043+7409G>T
c.91049C>A (p.Pro30350His)
c.64943C>A (p.Pro21648His)
c.64802C>A (p.Pro21601His)
c.90845C>A (p.Pro30282His)
c.86243C>A (p.Pro28748His)
c.86240C>A (p.Pro28747His)
c.83282C>A (p.Pro27761His)
c.64898C>A (p.Pro21633His)
c.86393C>A (p.Pro28798His)
c.86390C>A (p.Pro28797His)
c.85823C>A (p.Pro28608His)
c.83165C>A (p.Pro27722His)
c.83084C>A (p.Pro27695His)
c.64847C>A (p.Pro21616His)
c.54701C>A (p.Pro18234His)
2g.178549771G>ACA60974903TTN,TTN-AS1c.84247C>T (p.Pro28083Ser)
c.65332C>T (p.Pro21778Ser)
c.65131C>T (p.Pro21711Ser)
c.64756C>T (p.Pro21586Ser)
c.91951C>T (p.Pro30651Ser)
c.87028C>T (p.Pro29010Ser)
n.447-21529G>A
n.2043+7410G>A
c.91048C>T (p.Pro30350Ser)
c.64942C>T (p.Pro21648Ser)
c.64801C>T (p.Pro21601Ser)
c.90844C>T (p.Pro30282Ser)
c.86242C>T (p.Pro28748Ser)
c.86239C>T (p.Pro28747Ser)
c.83281C>T (p.Pro27761Ser)
c.64897C>T (p.Pro21633Ser)
c.86392C>T (p.Pro28798Ser)
c.86389C>T (p.Pro28797Ser)
c.85822C>T (p.Pro28608Ser)
c.83164C>T (p.Pro27722Ser)
c.83083C>T (p.Pro27695Ser)
c.64846C>T (p.Pro21616Ser)
c.54700C>T (p.Pro18234Ser)
 dbSNP gnomAD v4
2g.178549771G>CCA349495558TTN,TTN-AS1c.84247C>G (p.Pro28083Ala)
c.65332C>G (p.Pro21778Ala)
c.65131C>G (p.Pro21711Ala)
c.64756C>G (p.Pro21586Ala)
c.91951C>G (p.Pro30651Ala)
c.87028C>G (p.Pro29010Ala)
n.447-21529G>C
n.2043+7410G>C
c.91048C>G (p.Pro30350Ala)
c.64942C>G (p.Pro21648Ala)
c.64801C>G (p.Pro21601Ala)
c.90844C>G (p.Pro30282Ala)
c.86242C>G (p.Pro28748Ala)
c.86239C>G (p.Pro28747Ala)
c.83281C>G (p.Pro27761Ala)
c.64897C>G (p.Pro21633Ala)
c.86392C>G (p.Pro28798Ala)
c.86389C>G (p.Pro28797Ala)
c.85822C>G (p.Pro28608Ala)
c.83164C>G (p.Pro27722Ala)
c.83083C>G (p.Pro27695Ala)
c.64846C>G (p.Pro21616Ala)
c.54700C>G (p.Pro18234Ala)
2g.178549771G=CA1310520097TTN,TTN-AS1c.84247C= (p.Pro28083=)
c.65332C= (p.Pro21778=)
c.65131C= (p.Pro21711=)
c.64756C= (p.Pro21586=)
c.91951C= (p.Pro30651=)
c.87028C= (p.Pro29010=)
n.447-21529G=
n.2043+7410G=
c.91048C= (p.Pro30350=)
c.64942C= (p.Pro21648=)
c.64801C= (p.Pro21601=)
c.90844C= (p.Pro30282=)
c.86242C= (p.Pro28748=)
c.86239C= (p.Pro28747=)
c.83281C= (p.Pro27761=)
c.64897C= (p.Pro21633=)
c.86392C= (p.Pro28798=)
c.86389C= (p.Pro28797=)
c.85822C= (p.Pro28608=)
c.83164C= (p.Pro27722=)
c.83083C= (p.Pro27695=)
c.64846C= (p.Pro21616=)
c.54700C= (p.Pro18234=)
2g.178549771G>TCA349495552TTN,TTN-AS1c.84247C>A (p.Pro28083Thr)
c.65332C>A (p.Pro21778Thr)
c.65131C>A (p.Pro21711Thr)
c.64756C>A (p.Pro21586Thr)
c.91951C>A (p.Pro30651Thr)
c.87028C>A (p.Pro29010Thr)
n.447-21529G>T
n.2043+7410G>T
c.91048C>A (p.Pro30350Thr)
c.64942C>A (p.Pro21648Thr)
c.64801C>A (p.Pro21601Thr)
c.90844C>A (p.Pro30282Thr)
c.86242C>A (p.Pro28748Thr)
c.86239C>A (p.Pro28747Thr)
c.83281C>A (p.Pro27761Thr)
c.64897C>A (p.Pro21633Thr)
c.86392C>A (p.Pro28798Thr)
c.86389C>A (p.Pro28797Thr)
c.85822C>A (p.Pro28608Thr)
c.83164C>A (p.Pro27722Thr)
c.83083C>A (p.Pro27695Thr)
c.64846C>A (p.Pro21616Thr)
c.54700C>A (p.Pro18234Thr)
2g.178549772A=CA1310520098TTN,TTN-AS1c.84246T= (p.Ala28082=)
c.65331T= (p.Ala21777=)
c.65130T= (p.Ala21710=)
c.64755T= (p.Ala21585=)
c.91950T= (p.Ala30650=)
c.87027T= (p.Ala29009=)
n.447-21528A=
n.2043+7411A=
c.91047T= (p.Ala30349=)
c.64941T= (p.Ala21647=)
c.64800T= (p.Ala21600=)
c.90843T= (p.Ala30281=)
c.86241T= (p.Ala28747=)
c.86238T= (p.Ala28746=)
c.83280T= (p.Ala27760=)
c.64896T= (p.Ala21632=)
c.86391T= (p.Ala28797=)
c.86388T= (p.Ala28796=)
c.85821T= (p.Ala28607=)
c.83163T= (p.Ala27721=)
c.83082T= (p.Ala27694=)
c.64845T= (p.Ala21615=)
c.54699T= (p.Ala18233=)
2g.178549772A>CCA430244788TTN,TTN-AS1c.84246T>G (p.Ala28082=)
c.65331T>G (p.Ala21777=)
c.65130T>G (p.Ala21710=)
c.64755T>G (p.Ala21585=)
c.91950T>G (p.Ala30650=)
c.87027T>G (p.Ala29009=)
n.447-21528A>C
n.2043+7411A>C
c.91047T>G (p.Ala30349=)
c.64941T>G (p.Ala21647=)
c.64800T>G (p.Ala21600=)
c.90843T>G (p.Ala30281=)
c.86241T>G (p.Ala28747=)
c.86238T>G (p.Ala28746=)
c.83280T>G (p.Ala27760=)
c.64896T>G (p.Ala21632=)
c.86391T>G (p.Ala28797=)
c.86388T>G (p.Ala28796=)
c.85821T>G (p.Ala28607=)
c.83163T>G (p.Ala27721=)
c.83082T>G (p.Ala27694=)
c.64845T>G (p.Ala21615=)
c.54699T>G (p.Ala18233=)
2g.178549772A>GCA430244789TTN,TTN-AS1c.84246T>C (p.Ala28082=)
c.65331T>C (p.Ala21777=)
c.65130T>C (p.Ala21710=)
c.64755T>C (p.Ala21585=)
c.91950T>C (p.Ala30650=)
c.87027T>C (p.Ala29009=)
n.447-21528A>G
n.2043+7411A>G
c.91047T>C (p.Ala30349=)
c.64941T>C (p.Ala21647=)
c.64800T>C (p.Ala21600=)
c.90843T>C (p.Ala30281=)
c.86241T>C (p.Ala28747=)
c.86238T>C (p.Ala28746=)
c.83280T>C (p.Ala27760=)
c.64896T>C (p.Ala21632=)
c.86391T>C (p.Ala28797=)
c.86388T>C (p.Ala28796=)
c.85821T>C (p.Ala28607=)
c.83163T>C (p.Ala27721=)
c.83082T>C (p.Ala27694=)
c.64845T>C (p.Ala21615=)
c.54699T>C (p.Ala18233=)
2g.178549772A>TCA60974904TTN,TTN-AS1c.84246T>A (p.Ala28082=)
c.65331T>A (p.Ala21777=)
c.65130T>A (p.Ala21710=)
c.64755T>A (p.Ala21585=)
c.91950T>A (p.Ala30650=)
c.87027T>A (p.Ala29009=)
n.447-21528A>T
n.2043+7411A>T
c.91047T>A (p.Ala30349=)
c.64941T>A (p.Ala21647=)
c.64800T>A (p.Ala21600=)
c.90843T>A (p.Ala30281=)
c.86241T>A (p.Ala28747=)
c.86238T>A (p.Ala28746=)
c.83280T>A (p.Ala27760=)
c.64896T>A (p.Ala21632=)
c.86391T>A (p.Ala28797=)
c.86388T>A (p.Ala28796=)
c.85821T>A (p.Ala28607=)
c.83163T>A (p.Ala27721=)
c.83082T>A (p.Ala27694=)
c.64845T>A (p.Ala21615=)
c.54699T>A (p.Ala18233=)
 dbSNP gnomAD v3 gnomAD v4
2g.178549773G>ACA349495560TTN,TTN-AS1c.84245C>T (p.Ala28082Val)
c.65330C>T (p.Ala21777Val)
c.65129C>T (p.Ala21710Val)
c.64754C>T (p.Ala21585Val)
c.91949C>T (p.Ala30650Val)
c.87026C>T (p.Ala29009Val)
n.447-21527G>A
n.2043+7412G>A
c.91046C>T (p.Ala30349Val)
c.64940C>T (p.Ala21647Val)
c.64799C>T (p.Ala21600Val)
c.90842C>T (p.Ala30281Val)
c.86240C>T (p.Ala28747Val)
c.86237C>T (p.Ala28746Val)
c.83279C>T (p.Ala27760Val)
c.64895C>T (p.Ala21632Val)
c.86390C>T (p.Ala28797Val)
c.86387C>T (p.Ala28796Val)
c.85820C>T (p.Ala28607Val)
c.83162C>T (p.Ala27721Val)
c.83081C>T (p.Ala27694Val)
c.64844C>T (p.Ala21615Val)
c.54698C>T (p.Ala18233Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178549773G>CCA349495561TTN,TTN-AS1c.84245C>G (p.Ala28082Gly)
c.65330C>G (p.Ala21777Gly)
c.65129C>G (p.Ala21710Gly)
c.64754C>G (p.Ala21585Gly)
c.91949C>G (p.Ala30650Gly)
c.87026C>G (p.Ala29009Gly)
n.447-21527G>C
n.2043+7412G>C
c.91046C>G (p.Ala30349Gly)
c.64940C>G (p.Ala21647Gly)
c.64799C>G (p.Ala21600Gly)
c.90842C>G (p.Ala30281Gly)
c.86240C>G (p.Ala28747Gly)
c.86237C>G (p.Ala28746Gly)
c.83279C>G (p.Ala27760Gly)
c.64895C>G (p.Ala21632Gly)
c.86390C>G (p.Ala28797Gly)
c.86387C>G (p.Ala28796Gly)
c.85820C>G (p.Ala28607Gly)
c.83162C>G (p.Ala27721Gly)
c.83081C>G (p.Ala27694Gly)
c.64844C>G (p.Ala21615Gly)
c.54698C>G (p.Ala18233Gly)
2g.178549773G>TCA349495562TTN,TTN-AS1c.84245C>A (p.Ala28082Asp)
c.65330C>A (p.Ala21777Asp)
c.65129C>A (p.Ala21710Asp)
c.64754C>A (p.Ala21585Asp)
c.91949C>A (p.Ala30650Asp)
c.87026C>A (p.Ala29009Asp)
n.447-21527G>T
n.2043+7412G>T
c.91046C>A (p.Ala30349Asp)
c.64940C>A (p.Ala21647Asp)
c.64799C>A (p.Ala21600Asp)
c.90842C>A (p.Ala30281Asp)
c.86240C>A (p.Ala28747Asp)
c.86237C>A (p.Ala28746Asp)
c.83279C>A (p.Ala27760Asp)
c.64895C>A (p.Ala21632Asp)
c.86390C>A (p.Ala28797Asp)
c.86387C>A (p.Ala28796Asp)
c.85820C>A (p.Ala28607Asp)
c.83162C>A (p.Ala27721Asp)
c.83081C>A (p.Ala27694Asp)
c.64844C>A (p.Ala21615Asp)
c.54698C>A (p.Ala18233Asp)
2g.178549774C>ACA349495576TTN,TTN-AS1c.84244G>T (p.Ala28082Ser)
c.65329G>T (p.Ala21777Ser)
c.65128G>T (p.Ala21710Ser)
c.64753G>T (p.Ala21585Ser)
c.91948G>T (p.Ala30650Ser)
c.87025G>T (p.Ala29009Ser)
n.447-21526C>A
n.2043+7413C>A
c.91045G>T (p.Ala30349Ser)
c.64939G>T (p.Ala21647Ser)
c.64798G>T (p.Ala21600Ser)
c.90841G>T (p.Ala30281Ser)
c.86239G>T (p.Ala28747Ser)
c.86236G>T (p.Ala28746Ser)
c.83278G>T (p.Ala27760Ser)
c.64894G>T (p.Ala21632Ser)
c.86389G>T (p.Ala28797Ser)
c.86386G>T (p.Ala28796Ser)
c.85819G>T (p.Ala28607Ser)
c.83161G>T (p.Ala27721Ser)
c.83080G>T (p.Ala27694Ser)
c.64843G>T (p.Ala21615Ser)
c.54697G>T (p.Ala18233Ser)
2g.178549774C>GCA349495577TTN,TTN-AS1c.84244G>C (p.Ala28082Pro)
c.65329G>C (p.Ala21777Pro)
c.65128G>C (p.Ala21710Pro)
c.64753G>C (p.Ala21585Pro)
c.91948G>C (p.Ala30650Pro)
c.87025G>C (p.Ala29009Pro)
n.447-21526C>G
n.2043+7413C>G
c.91045G>C (p.Ala30349Pro)
c.64939G>C (p.Ala21647Pro)
c.64798G>C (p.Ala21600Pro)
c.90841G>C (p.Ala30281Pro)
c.86239G>C (p.Ala28747Pro)
c.86236G>C (p.Ala28746Pro)
c.83278G>C (p.Ala27760Pro)
c.64894G>C (p.Ala21632Pro)
c.86389G>C (p.Ala28797Pro)
c.86386G>C (p.Ala28796Pro)
c.85819G>C (p.Ala28607Pro)
c.83161G>C (p.Ala27721Pro)
c.83080G>C (p.Ala27694Pro)
c.64843G>C (p.Ala21615Pro)
c.54697G>C (p.Ala18233Pro)
2g.178549774C>TCA349495578TTN,TTN-AS1c.84244G>A (p.Ala28082Thr)
c.65329G>A (p.Ala21777Thr)
c.65128G>A (p.Ala21710Thr)
c.64753G>A (p.Ala21585Thr)
c.91948G>A (p.Ala30650Thr)
c.87025G>A (p.Ala29009Thr)
n.447-21526C>T
n.2043+7413C>T
c.91045G>A (p.Ala30349Thr)
c.64939G>A (p.Ala21647Thr)
c.64798G>A (p.Ala21600Thr)
c.90841G>A (p.Ala30281Thr)
c.86239G>A (p.Ala28747Thr)
c.86236G>A (p.Ala28746Thr)
c.83278G>A (p.Ala27760Thr)
c.64894G>A (p.Ala21632Thr)
c.86389G>A (p.Ala28797Thr)
c.86386G>A (p.Ala28796Thr)
c.85819G>A (p.Ala28607Thr)
c.83161G>A (p.Ala27721Thr)
c.83080G>A (p.Ala27694Thr)
c.64843G>A (p.Ala21615Thr)
c.54697G>A (p.Ala18233Thr)
2g.178549775A>CCA349495579TTN,TTN-AS1c.84243T>G (p.Cys28081Trp)
c.65328T>G (p.Cys21776Trp)
c.65127T>G (p.Cys21709Trp)
c.64752T>G (p.Cys21584Trp)
c.91947T>G (p.Cys30649Trp)
c.87024T>G (p.Cys29008Trp)
n.447-21525A>C
n.2043+7414A>C
c.91044T>G (p.Cys30348Trp)
c.64938T>G (p.Cys21646Trp)
c.64797T>G (p.Cys21599Trp)
c.90840T>G (p.Cys30280Trp)
c.86238T>G (p.Cys28746Trp)
c.86235T>G (p.Cys28745Trp)
c.83277T>G (p.Cys27759Trp)
c.64893T>G (p.Cys21631Trp)
c.86388T>G (p.Cys28796Trp)
c.86385T>G (p.Cys28795Trp)
c.85818T>G (p.Cys28606Trp)
c.83160T>G (p.Cys27720Trp)
c.83079T>G (p.Cys27693Trp)
c.64842T>G (p.Cys21614Trp)
c.54696T>G (p.Cys18232Trp)
2g.178549775A>GCA430244791TTN,TTN-AS1c.84243T>C (p.Cys28081=)
c.65328T>C (p.Cys21776=)
c.65127T>C (p.Cys21709=)
c.64752T>C (p.Cys21584=)
c.91947T>C (p.Cys30649=)
c.87024T>C (p.Cys29008=)
n.447-21525A>G
n.2043+7414A>G
c.91044T>C (p.Cys30348=)
c.64938T>C (p.Cys21646=)
c.64797T>C (p.Cys21599=)
c.90840T>C (p.Cys30280=)
c.86238T>C (p.Cys28746=)
c.86235T>C (p.Cys28745=)
c.83277T>C (p.Cys27759=)
c.64893T>C (p.Cys21631=)
c.86388T>C (p.Cys28796=)
c.86385T>C (p.Cys28795=)
c.85818T>C (p.Cys28606=)
c.83160T>C (p.Cys27720=)
c.83079T>C (p.Cys27693=)
c.64842T>C (p.Cys21614=)
c.54696T>C (p.Cys18232=)
2g.178549775A>TCA349495580TTN,TTN-AS1c.84243T>A (p.Cys28081Ter)
c.65328T>A (p.Cys21776Ter)
c.65127T>A (p.Cys21709Ter)
c.64752T>A (p.Cys21584Ter)
c.91947T>A (p.Cys30649Ter)
c.87024T>A (p.Cys29008Ter)
n.447-21525A>T
n.2043+7414A>T
c.91044T>A (p.Cys30348Ter)
c.64938T>A (p.Cys21646Ter)
c.64797T>A (p.Cys21599Ter)
c.90840T>A (p.Cys30280Ter)
c.86238T>A (p.Cys28746Ter)
c.86235T>A (p.Cys28745Ter)
c.83277T>A (p.Cys27759Ter)
c.64893T>A (p.Cys21631Ter)
c.86388T>A (p.Cys28796Ter)
c.86385T>A (p.Cys28795Ter)
c.85818T>A (p.Cys28606Ter)
c.83160T>A (p.Cys27720Ter)
c.83079T>A (p.Cys27693Ter)
c.64842T>A (p.Cys21614Ter)
c.54696T>A (p.Cys18232Ter)
2g.178549776C>ACA349495583TTN,TTN-AS1c.84242G>T (p.Cys28081Phe)
c.65327G>T (p.Cys21776Phe)
c.65126G>T (p.Cys21709Phe)
c.64751G>T (p.Cys21584Phe)
c.91946G>T (p.Cys30649Phe)
c.87023G>T (p.Cys29008Phe)
n.447-21524C>A
n.2043+7415C>A
c.91043G>T (p.Cys30348Phe)
c.64937G>T (p.Cys21646Phe)
c.64796G>T (p.Cys21599Phe)
c.90839G>T (p.Cys30280Phe)
c.86237G>T (p.Cys28746Phe)
c.86234G>T (p.Cys28745Phe)
c.83276G>T (p.Cys27759Phe)
c.64892G>T (p.Cys21631Phe)
c.86387G>T (p.Cys28796Phe)
c.86384G>T (p.Cys28795Phe)
c.85817G>T (p.Cys28606Phe)
c.83159G>T (p.Cys27720Phe)
c.83078G>T (p.Cys27693Phe)
c.64841G>T (p.Cys21614Phe)
c.54695G>T (p.Cys18232Phe)
2g.178549776C=CA1310520099TTN,TTN-AS1c.84242G= (p.Cys28081=)
c.65327G= (p.Cys21776=)
c.65126G= (p.Cys21709=)
c.64751G= (p.Cys21584=)
c.91946G= (p.Cys30649=)
c.87023G= (p.Cys29008=)
n.447-21524C=
n.2043+7415C=
c.91043G= (p.Cys30348=)
c.64937G= (p.Cys21646=)
c.64796G= (p.Cys21599=)
c.90839G= (p.Cys30280=)
c.86237G= (p.Cys28746=)
c.86234G= (p.Cys28745=)
c.83276G= (p.Cys27759=)
c.64892G= (p.Cys21631=)
c.86387G= (p.Cys28796=)
c.86384G= (p.Cys28795=)
c.85817G= (p.Cys28606=)
c.83159G= (p.Cys27720=)
c.83078G= (p.Cys27693=)
c.64841G= (p.Cys21614=)
c.54695G= (p.Cys18232=)
2g.178549776C>GCA349495584TTN,TTN-AS1c.84242G>C (p.Cys28081Ser)
c.65327G>C (p.Cys21776Ser)
c.65126G>C (p.Cys21709Ser)
c.64751G>C (p.Cys21584Ser)
c.91946G>C (p.Cys30649Ser)
c.87023G>C (p.Cys29008Ser)
n.447-21524C>G
n.2043+7415C>G
c.91043G>C (p.Cys30348Ser)
c.64937G>C (p.Cys21646Ser)
c.64796G>C (p.Cys21599Ser)
c.90839G>C (p.Cys30280Ser)
c.86237G>C (p.Cys28746Ser)
c.86234G>C (p.Cys28745Ser)
c.83276G>C (p.Cys27759Ser)
c.64892G>C (p.Cys21631Ser)
c.86387G>C (p.Cys28796Ser)
c.86384G>C (p.Cys28795Ser)
c.85817G>C (p.Cys28606Ser)
c.83159G>C (p.Cys27720Ser)
c.83078G>C (p.Cys27693Ser)
c.64841G>C (p.Cys21614Ser)
c.54695G>C (p.Cys18232Ser)
2g.178549776C>TCA349495585TTN,TTN-AS1c.84242G>A (p.Cys28081Tyr)
c.65327G>A (p.Cys21776Tyr)
c.65126G>A (p.Cys21709Tyr)
c.64751G>A (p.Cys21584Tyr)
c.91946G>A (p.Cys30649Tyr)
c.87023G>A (p.Cys29008Tyr)
n.447-21524C>T
n.2043+7415C>T
c.91043G>A (p.Cys30348Tyr)
c.64937G>A (p.Cys21646Tyr)
c.64796G>A (p.Cys21599Tyr)
c.90839G>A (p.Cys30280Tyr)
c.86237G>A (p.Cys28746Tyr)
c.86234G>A (p.Cys28745Tyr)
c.83276G>A (p.Cys27759Tyr)
c.64892G>A (p.Cys21631Tyr)
c.86387G>A (p.Cys28796Tyr)
c.86384G>A (p.Cys28795Tyr)
c.85817G>A (p.Cys28606Tyr)
c.83159G>A (p.Cys27720Tyr)
c.83078G>A (p.Cys27693Tyr)
c.64841G>A (p.Cys21614Tyr)
c.54695G>A (p.Cys18232Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.178549777A=CA1310520100TTN,TTN-AS1c.84241T= (p.Cys28081=)
c.65326T= (p.Cys21776=)
c.65125T= (p.Cys21709=)
c.64750T= (p.Cys21584=)
c.91945T= (p.Cys30649=)
c.87022T= (p.Cys29008=)
n.447-21523A=
n.2043+7416A=
c.91042T= (p.Cys30348=)
c.64936T= (p.Cys21646=)
c.64795T= (p.Cys21599=)
c.90838T= (p.Cys30280=)
c.86236T= (p.Cys28746=)
c.86233T= (p.Cys28745=)
c.83275T= (p.Cys27759=)
c.64891T= (p.Cys21631=)
c.86386T= (p.Cys28796=)
c.86383T= (p.Cys28795=)
c.85816T= (p.Cys28606=)
c.83158T= (p.Cys27720=)
c.83077T= (p.Cys27693=)
c.64840T= (p.Cys21614=)
c.54694T= (p.Cys18232=)
2g.178549777A>CCA349495587TTN,TTN-AS1c.84241T>G (p.Cys28081Gly)
c.65326T>G (p.Cys21776Gly)
c.65125T>G (p.Cys21709Gly)
c.64750T>G (p.Cys21584Gly)
c.91945T>G (p.Cys30649Gly)
c.87022T>G (p.Cys29008Gly)
n.447-21523A>C
n.2043+7416A>C
c.91042T>G (p.Cys30348Gly)
c.64936T>G (p.Cys21646Gly)
c.64795T>G (p.Cys21599Gly)
c.90838T>G (p.Cys30280Gly)
c.86236T>G (p.Cys28746Gly)
c.86233T>G (p.Cys28745Gly)
c.83275T>G (p.Cys27759Gly)
c.64891T>G (p.Cys21631Gly)
c.86386T>G (p.Cys28796Gly)
c.86383T>G (p.Cys28795Gly)
c.85816T>G (p.Cys28606Gly)
c.83158T>G (p.Cys27720Gly)
c.83077T>G (p.Cys27693Gly)
c.64840T>G (p.Cys21614Gly)
c.54694T>G (p.Cys18232Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178549777A>GCA1987527TTN,TTN-AS1c.84241T>C (p.Cys28081Arg)
c.65326T>C (p.Cys21776Arg)
c.65125T>C (p.Cys21709Arg)
c.64750T>C (p.Cys21584Arg)
c.91945T>C (p.Cys30649Arg)
c.87022T>C (p.Cys29008Arg)
n.447-21523A>G
n.2043+7416A>G
c.91042T>C (p.Cys30348Arg)
c.64936T>C (p.Cys21646Arg)
c.64795T>C (p.Cys21599Arg)
c.90838T>C (p.Cys30280Arg)
c.86236T>C (p.Cys28746Arg)
c.86233T>C (p.Cys28745Arg)
c.83275T>C (p.Cys27759Arg)
c.64891T>C (p.Cys21631Arg)
c.86386T>C (p.Cys28796Arg)
c.86383T>C (p.Cys28795Arg)
c.85816T>C (p.Cys28606Arg)
c.83158T>C (p.Cys27720Arg)
c.83077T>C (p.Cys27693Arg)
c.64840T>C (p.Cys21614Arg)
c.54694T>C (p.Cys18232Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549777A>TCA349495588TTN,TTN-AS1c.84241T>A (p.Cys28081Ser)
c.65326T>A (p.Cys21776Ser)
c.65125T>A (p.Cys21709Ser)
c.64750T>A (p.Cys21584Ser)
c.91945T>A (p.Cys30649Ser)
c.87022T>A (p.Cys29008Ser)
n.447-21523A>T
n.2043+7416A>T
c.91042T>A (p.Cys30348Ser)
c.64936T>A (p.Cys21646Ser)
c.64795T>A (p.Cys21599Ser)
c.90838T>A (p.Cys30280Ser)
c.86236T>A (p.Cys28746Ser)
c.86233T>A (p.Cys28745Ser)
c.83275T>A (p.Cys27759Ser)
c.64891T>A (p.Cys21631Ser)
c.86386T>A (p.Cys28796Ser)
c.86383T>A (p.Cys28795Ser)
c.85816T>A (p.Cys28606Ser)
c.83158T>A (p.Cys27720Ser)
c.83077T>A (p.Cys27693Ser)
c.64840T>A (p.Cys21614Ser)
c.54694T>A (p.Cys18232Ser)
2g.178549778A>CCA430244794TTN,TTN-AS1c.84240T>G (p.Gly28080=)
c.65325T>G (p.Gly21775=)
c.65124T>G (p.Gly21708=)
c.64749T>G (p.Gly21583=)
c.91944T>G (p.Gly30648=)
c.87021T>G (p.Gly29007=)
n.447-21522A>C
n.2043+7417A>C
c.91041T>G (p.Gly30347=)
c.64935T>G (p.Gly21645=)
c.64794T>G (p.Gly21598=)
c.90837T>G (p.Gly30279=)
c.86235T>G (p.Gly28745=)
c.86232T>G (p.Gly28744=)
c.83274T>G (p.Gly27758=)
c.64890T>G (p.Gly21630=)
c.86385T>G (p.Gly28795=)
c.86382T>G (p.Gly28794=)
c.85815T>G (p.Gly28605=)
c.83157T>G (p.Gly27719=)
c.83076T>G (p.Gly27692=)
c.64839T>G (p.Gly21613=)
c.54693T>G (p.Gly18231=)
2g.178549778A>GCA430244795TTN,TTN-AS1c.84240T>C (p.Gly28080=)
c.65325T>C (p.Gly21775=)
c.65124T>C (p.Gly21708=)
c.64749T>C (p.Gly21583=)
c.91944T>C (p.Gly30648=)
c.87021T>C (p.Gly29007=)
n.447-21522A>G
n.2043+7417A>G
c.91041T>C (p.Gly30347=)
c.64935T>C (p.Gly21645=)
c.64794T>C (p.Gly21598=)
c.90837T>C (p.Gly30279=)
c.86235T>C (p.Gly28745=)
c.86232T>C (p.Gly28744=)
c.83274T>C (p.Gly27758=)
c.64890T>C (p.Gly21630=)
c.86385T>C (p.Gly28795=)
c.86382T>C (p.Gly28794=)
c.85815T>C (p.Gly28605=)
c.83157T>C (p.Gly27719=)
c.83076T>C (p.Gly27692=)
c.64839T>C (p.Gly21613=)
c.54693T>C (p.Gly18231=)
 gnomAD v4
2g.178549778A>TCA430244796TTN,TTN-AS1c.84240T>A (p.Gly28080=)
c.65325T>A (p.Gly21775=)
c.65124T>A (p.Gly21708=)
c.64749T>A (p.Gly21583=)
c.91944T>A (p.Gly30648=)
c.87021T>A (p.Gly29007=)
n.447-21522A>T
n.2043+7417A>T
c.91041T>A (p.Gly30347=)
c.64935T>A (p.Gly21645=)
c.64794T>A (p.Gly21598=)
c.90837T>A (p.Gly30279=)
c.86235T>A (p.Gly28745=)
c.86232T>A (p.Gly28744=)
c.83274T>A (p.Gly27758=)
c.64890T>A (p.Gly21630=)
c.86385T>A (p.Gly28795=)
c.86382T>A (p.Gly28794=)
c.85815T>A (p.Gly28605=)
c.83157T>A (p.Gly27719=)
c.83076T>A (p.Gly27692=)
c.64839T>A (p.Gly21613=)
c.54693T>A (p.Gly18231=)
2g.178549779C>ACA349495590TTN,TTN-AS1c.84239G>T (p.Gly28080Val)
c.65324G>T (p.Gly21775Val)
c.65123G>T (p.Gly21708Val)
c.64748G>T (p.Gly21583Val)
c.91943G>T (p.Gly30648Val)
c.87020G>T (p.Gly29007Val)
n.447-21521C>A
n.2043+7418C>A
c.91040G>T (p.Gly30347Val)
c.64934G>T (p.Gly21645Val)
c.64793G>T (p.Gly21598Val)
c.90836G>T (p.Gly30279Val)
c.86234G>T (p.Gly28745Val)
c.86231G>T (p.Gly28744Val)
c.83273G>T (p.Gly27758Val)
c.64889G>T (p.Gly21630Val)
c.86384G>T (p.Gly28795Val)
c.86381G>T (p.Gly28794Val)
c.85814G>T (p.Gly28605Val)
c.83156G>T (p.Gly27719Val)
c.83075G>T (p.Gly27692Val)
c.64838G>T (p.Gly21613Val)
c.54692G>T (p.Gly18231Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178549779C>GCA349495593TTN,TTN-AS1c.84239G>C (p.Gly28080Ala)
c.65324G>C (p.Gly21775Ala)
c.65123G>C (p.Gly21708Ala)
c.64748G>C (p.Gly21583Ala)
c.91943G>C (p.Gly30648Ala)
c.87020G>C (p.Gly29007Ala)
n.447-21521C>G
n.2043+7418C>G
c.91040G>C (p.Gly30347Ala)
c.64934G>C (p.Gly21645Ala)
c.64793G>C (p.Gly21598Ala)
c.90836G>C (p.Gly30279Ala)
c.86234G>C (p.Gly28745Ala)
c.86231G>C (p.Gly28744Ala)
c.83273G>C (p.Gly27758Ala)
c.64889G>C (p.Gly21630Ala)
c.86384G>C (p.Gly28795Ala)
c.86381G>C (p.Gly28794Ala)
c.85814G>C (p.Gly28605Ala)
c.83156G>C (p.Gly27719Ala)
c.83075G>C (p.Gly27692Ala)
c.64838G>C (p.Gly21613Ala)
c.54692G>C (p.Gly18231Ala)
2g.178549779C>TCA349495596TTN,TTN-AS1c.84239G>A (p.Gly28080Asp)
c.65324G>A (p.Gly21775Asp)
c.65123G>A (p.Gly21708Asp)
c.64748G>A (p.Gly21583Asp)
c.91943G>A (p.Gly30648Asp)
c.87020G>A (p.Gly29007Asp)
n.447-21521C>T
n.2043+7418C>T
c.91040G>A (p.Gly30347Asp)
c.64934G>A (p.Gly21645Asp)
c.64793G>A (p.Gly21598Asp)
c.90836G>A (p.Gly30279Asp)
c.86234G>A (p.Gly28745Asp)
c.86231G>A (p.Gly28744Asp)
c.83273G>A (p.Gly27758Asp)
c.64889G>A (p.Gly21630Asp)
c.86384G>A (p.Gly28795Asp)
c.86381G>A (p.Gly28794Asp)
c.85814G>A (p.Gly28605Asp)
c.83156G>A (p.Gly27719Asp)
c.83075G>A (p.Gly27692Asp)
c.64838G>A (p.Gly21613Asp)
c.54692G>A (p.Gly18231Asp)
 gnomAD v4
2g.178549780delCA2586965250TTN,TTN-AS1c.84239del (p.Gly28080ValfsTer5)
c.65324del (p.Gly21775ValfsTer5)
c.65123del (p.Gly21708ValfsTer5)
c.64748del (p.Gly21583ValfsTer5)
c.91943del (p.Gly30648ValfsTer5)
c.87020del (p.Gly29007ValfsTer5)
n.447-21520del
n.2043+7419del
c.91040del (p.Gly30347ValfsTer5)
c.64934del (p.Gly21645ValfsTer5)
c.64793del (p.Gly21598ValfsTer5)
c.90836del (p.Gly30279ValfsTer5)
c.86234del (p.Gly28745ValfsTer5)
c.86231del (p.Gly28744ValfsTer5)
c.83273del (p.Gly27758ValfsTer5)
c.64889del (p.Gly21630ValfsTer5)
c.86384del (p.Gly28795ValfsTer5)
c.86381del (p.Gly28794ValfsTer5)
c.85814del (p.Gly28605ValfsTer5)
c.83156del (p.Gly27719ValfsTer5)
c.83075del (p.Gly27692ValfsTer5)
c.64838del (p.Gly21613ValfsTer5)
c.54692del (p.Gly18231ValfsTer5)
2g.178549780C>ACA349495601TTN,TTN-AS1c.84238G>T (p.Gly28080Cys)
c.65323G>T (p.Gly21775Cys)
c.65122G>T (p.Gly21708Cys)
c.64747G>T (p.Gly21583Cys)
c.91942G>T (p.Gly30648Cys)
c.87019G>T (p.Gly29007Cys)
n.447-21520C>A
n.2043+7419C>A
c.91039G>T (p.Gly30347Cys)
c.64933G>T (p.Gly21645Cys)
c.64792G>T (p.Gly21598Cys)
c.90835G>T (p.Gly30279Cys)
c.86233G>T (p.Gly28745Cys)
c.86230G>T (p.Gly28744Cys)
c.83272G>T (p.Gly27758Cys)
c.64888G>T (p.Gly21630Cys)
c.86383G>T (p.Gly28795Cys)
c.86380G>T (p.Gly28794Cys)
c.85813G>T (p.Gly28605Cys)
c.83155G>T (p.Gly27719Cys)
c.83074G>T (p.Gly27692Cys)
c.64837G>T (p.Gly21613Cys)
c.54691G>T (p.Gly18231Cys)
2g.178549780C=CA1310520101TTN,TTN-AS1c.84238G= (p.Gly28080=)
c.65323G= (p.Gly21775=)
c.65122G= (p.Gly21708=)
c.64747G= (p.Gly21583=)
c.91942G= (p.Gly30648=)
c.87019G= (p.Gly29007=)
n.447-21520C=
n.2043+7419C=
c.91039G= (p.Gly30347=)
c.64933G= (p.Gly21645=)
c.64792G= (p.Gly21598=)
c.90835G= (p.Gly30279=)
c.86233G= (p.Gly28745=)
c.86230G= (p.Gly28744=)
c.83272G= (p.Gly27758=)
c.64888G= (p.Gly21630=)
c.86383G= (p.Gly28795=)
c.86380G= (p.Gly28794=)
c.85813G= (p.Gly28605=)
c.83155G= (p.Gly27719=)
c.83074G= (p.Gly27692=)
c.64837G= (p.Gly21613=)
c.54691G= (p.Gly18231=)
2g.178549780C>GCA349495604TTN,TTN-AS1c.84238G>C (p.Gly28080Arg)
c.65323G>C (p.Gly21775Arg)
c.65122G>C (p.Gly21708Arg)
c.64747G>C (p.Gly21583Arg)
c.91942G>C (p.Gly30648Arg)
c.87019G>C (p.Gly29007Arg)
n.447-21520C>G
n.2043+7419C>G
c.91039G>C (p.Gly30347Arg)
c.64933G>C (p.Gly21645Arg)
c.64792G>C (p.Gly21598Arg)
c.90835G>C (p.Gly30279Arg)
c.86233G>C (p.Gly28745Arg)
c.86230G>C (p.Gly28744Arg)
c.83272G>C (p.Gly27758Arg)
c.64888G>C (p.Gly21630Arg)
c.86383G>C (p.Gly28795Arg)
c.86380G>C (p.Gly28794Arg)
c.85813G>C (p.Gly28605Arg)
c.83155G>C (p.Gly27719Arg)
c.83074G>C (p.Gly27692Arg)
c.64837G>C (p.Gly21613Arg)
c.54691G>C (p.Gly18231Arg)
2g.178549780C>TCA1987528TTN,TTN-AS1c.84238G>A (p.Gly28080Ser)
c.65323G>A (p.Gly21775Ser)
c.65122G>A (p.Gly21708Ser)
c.64747G>A (p.Gly21583Ser)
c.91942G>A (p.Gly30648Ser)
c.87019G>A (p.Gly29007Ser)
n.447-21520C>T
n.2043+7419C>T
c.91039G>A (p.Gly30347Ser)
c.64933G>A (p.Gly21645Ser)
c.64792G>A (p.Gly21598Ser)
c.90835G>A (p.Gly30279Ser)
c.86233G>A (p.Gly28745Ser)
c.86230G>A (p.Gly28744Ser)
c.83272G>A (p.Gly27758Ser)
c.64888G>A (p.Gly21630Ser)
c.86383G>A (p.Gly28795Ser)
c.86380G>A (p.Gly28794Ser)
c.85813G>A (p.Gly28605Ser)
c.83155G>A (p.Gly27719Ser)
c.83074G>A (p.Gly27692Ser)
c.64837G>A (p.Gly21613Ser)
c.54691G>A (p.Gly18231Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549781G>ACA1987529TTN,TTN-AS1c.84237C>T (p.Asp28079=)
c.65322C>T (p.Asp21774=)
c.65121C>T (p.Asp21707=)
c.64746C>T (p.Asp21582=)
c.91941C>T (p.Asp30647=)
c.87018C>T (p.Asp29006=)
n.447-21519G>A
n.2043+7420G>A
c.91038C>T (p.Asp30346=)
c.64932C>T (p.Asp21644=)
c.64791C>T (p.Asp21597=)
c.90834C>T (p.Asp30278=)
c.86232C>T (p.Asp28744=)
c.86229C>T (p.Asp28743=)
c.83271C>T (p.Asp27757=)
c.64887C>T (p.Asp21629=)
c.86382C>T (p.Asp28794=)
c.86379C>T (p.Asp28793=)
c.85812C>T (p.Asp28604=)
c.83154C>T (p.Asp27718=)
c.83073C>T (p.Asp27691=)
c.64836C>T (p.Asp21612=)
c.54690C>T (p.Asp18230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549781G>CCA349495613TTN,TTN-AS1c.84237C>G (p.Asp28079Glu)
c.65322C>G (p.Asp21774Glu)
c.65121C>G (p.Asp21707Glu)
c.64746C>G (p.Asp21582Glu)
c.91941C>G (p.Asp30647Glu)
c.87018C>G (p.Asp29006Glu)
n.447-21519G>C
n.2043+7420G>C
c.91038C>G (p.Asp30346Glu)
c.64932C>G (p.Asp21644Glu)
c.64791C>G (p.Asp21597Glu)
c.90834C>G (p.Asp30278Glu)
c.86232C>G (p.Asp28744Glu)
c.86229C>G (p.Asp28743Glu)
c.83271C>G (p.Asp27757Glu)
c.64887C>G (p.Asp21629Glu)
c.86382C>G (p.Asp28794Glu)
c.86379C>G (p.Asp28793Glu)
c.85812C>G (p.Asp28604Glu)
c.83154C>G (p.Asp27718Glu)
c.83073C>G (p.Asp27691Glu)
c.64836C>G (p.Asp21612Glu)
c.54690C>G (p.Asp18230Glu)
2g.178549781G=CA1310520102TTN,TTN-AS1c.84237C= (p.Asp28079=)
c.65322C= (p.Asp21774=)
c.65121C= (p.Asp21707=)
c.64746C= (p.Asp21582=)
c.91941C= (p.Asp30647=)
c.87018C= (p.Asp29006=)
n.447-21519G=
n.2043+7420G=
c.91038C= (p.Asp30346=)
c.64932C= (p.Asp21644=)
c.64791C= (p.Asp21597=)
c.90834C= (p.Asp30278=)
c.86232C= (p.Asp28744=)
c.86229C= (p.Asp28743=)
c.83271C= (p.Asp27757=)
c.64887C= (p.Asp21629=)
c.86382C= (p.Asp28794=)
c.86379C= (p.Asp28793=)
c.85812C= (p.Asp28604=)
c.83154C= (p.Asp27718=)
c.83073C= (p.Asp27691=)
c.64836C= (p.Asp21612=)
c.54690C= (p.Asp18230=)
2g.178549781G>TCA349495616TTN,TTN-AS1c.84237C>A (p.Asp28079Glu)
c.65322C>A (p.Asp21774Glu)
c.65121C>A (p.Asp21707Glu)
c.64746C>A (p.Asp21582Glu)
c.91941C>A (p.Asp30647Glu)
c.87018C>A (p.Asp29006Glu)
n.447-21519G>T
n.2043+7420G>T
c.91038C>A (p.Asp30346Glu)
c.64932C>A (p.Asp21644Glu)
c.64791C>A (p.Asp21597Glu)
c.90834C>A (p.Asp30278Glu)
c.86232C>A (p.Asp28744Glu)
c.86229C>A (p.Asp28743Glu)
c.83271C>A (p.Asp27757Glu)
c.64887C>A (p.Asp21629Glu)
c.86382C>A (p.Asp28794Glu)
c.86379C>A (p.Asp28793Glu)
c.85812C>A (p.Asp28604Glu)
c.83154C>A (p.Asp27718Glu)
c.83073C>A (p.Asp27691Glu)
c.64836C>A (p.Asp21612Glu)
c.54690C>A (p.Asp18230Glu)
2g.178549782T>ACA349495621TTN,TTN-AS1c.84236A>T (p.Asp28079Val)
c.65321A>T (p.Asp21774Val)
c.65120A>T (p.Asp21707Val)
c.64745A>T (p.Asp21582Val)
c.91940A>T (p.Asp30647Val)
c.87017A>T (p.Asp29006Val)
n.447-21518T>A
n.2043+7421T>A
c.91037A>T (p.Asp30346Val)
c.64931A>T (p.Asp21644Val)
c.64790A>T (p.Asp21597Val)
c.90833A>T (p.Asp30278Val)
c.86231A>T (p.Asp28744Val)
c.86228A>T (p.Asp28743Val)
c.83270A>T (p.Asp27757Val)
c.64886A>T (p.Asp21629Val)
c.86381A>T (p.Asp28794Val)
c.86378A>T (p.Asp28793Val)
c.85811A>T (p.Asp28604Val)
c.83153A>T (p.Asp27718Val)
c.83072A>T (p.Asp27691Val)
c.64835A>T (p.Asp21612Val)
c.54689A>T (p.Asp18230Val)
2g.178549782T>CCA349495624TTN,TTN-AS1c.84236A>G (p.Asp28079Gly)
c.65321A>G (p.Asp21774Gly)
c.65120A>G (p.Asp21707Gly)
c.64745A>G (p.Asp21582Gly)
c.91940A>G (p.Asp30647Gly)
c.87017A>G (p.Asp29006Gly)
n.447-21518T>C
n.2043+7421T>C
c.91037A>G (p.Asp30346Gly)
c.64931A>G (p.Asp21644Gly)
c.64790A>G (p.Asp21597Gly)
c.90833A>G (p.Asp30278Gly)
c.86231A>G (p.Asp28744Gly)
c.86228A>G (p.Asp28743Gly)
c.83270A>G (p.Asp27757Gly)
c.64886A>G (p.Asp21629Gly)
c.86381A>G (p.Asp28794Gly)
c.86378A>G (p.Asp28793Gly)
c.85811A>G (p.Asp28604Gly)
c.83153A>G (p.Asp27718Gly)
c.83072A>G (p.Asp27691Gly)
c.64835A>G (p.Asp21612Gly)
c.54689A>G (p.Asp18230Gly)
2g.178549782T>GCA349495619TTN,TTN-AS1c.84236A>C (p.Asp28079Ala)
c.65321A>C (p.Asp21774Ala)
c.65120A>C (p.Asp21707Ala)
c.64745A>C (p.Asp21582Ala)
c.91940A>C (p.Asp30647Ala)
c.87017A>C (p.Asp29006Ala)
n.447-21518T>G
n.2043+7421T>G
c.91037A>C (p.Asp30346Ala)
c.64931A>C (p.Asp21644Ala)
c.64790A>C (p.Asp21597Ala)
c.90833A>C (p.Asp30278Ala)
c.86231A>C (p.Asp28744Ala)
c.86228A>C (p.Asp28743Ala)
c.83270A>C (p.Asp27757Ala)
c.64886A>C (p.Asp21629Ala)
c.86381A>C (p.Asp28794Ala)
c.86378A>C (p.Asp28793Ala)
c.85811A>C (p.Asp28604Ala)
c.83153A>C (p.Asp27718Ala)
c.83072A>C (p.Asp27691Ala)
c.64835A>C (p.Asp21612Ala)
c.54689A>C (p.Asp18230Ala)
2g.178549783C>ACA349495628TTN,TTN-AS1c.84235G>T (p.Asp28079Tyr)
c.65320G>T (p.Asp21774Tyr)
c.65119G>T (p.Asp21707Tyr)
c.64744G>T (p.Asp21582Tyr)
c.91939G>T (p.Asp30647Tyr)
c.87016G>T (p.Asp29006Tyr)
n.447-21517C>A
n.2043+7422C>A
c.91036G>T (p.Asp30346Tyr)
c.64930G>T (p.Asp21644Tyr)
c.64789G>T (p.Asp21597Tyr)
c.90832G>T (p.Asp30278Tyr)
c.86230G>T (p.Asp28744Tyr)
c.86227G>T (p.Asp28743Tyr)
c.83269G>T (p.Asp27757Tyr)
c.64885G>T (p.Asp21629Tyr)
c.86380G>T (p.Asp28794Tyr)
c.86377G>T (p.Asp28793Tyr)
c.85810G>T (p.Asp28604Tyr)
c.83152G>T (p.Asp27718Tyr)
c.83071G>T (p.Asp27691Tyr)
c.64834G>T (p.Asp21612Tyr)
c.54688G>T (p.Asp18230Tyr)
2g.178549783C>GCA349495647TTN,TTN-AS1c.84235G>C (p.Asp28079His)
c.65320G>C (p.Asp21774His)
c.65119G>C (p.Asp21707His)
c.64744G>C (p.Asp21582His)
c.91939G>C (p.Asp30647His)
c.87016G>C (p.Asp29006His)
n.447-21517C>G
n.2043+7422C>G
c.91036G>C (p.Asp30346His)
c.64930G>C (p.Asp21644His)
c.64789G>C (p.Asp21597His)
c.90832G>C (p.Asp30278His)
c.86230G>C (p.Asp28744His)
c.86227G>C (p.Asp28743His)
c.83269G>C (p.Asp27757His)
c.64885G>C (p.Asp21629His)
c.86380G>C (p.Asp28794His)
c.86377G>C (p.Asp28793His)
c.85810G>C (p.Asp28604His)
c.83152G>C (p.Asp27718His)
c.83071G>C (p.Asp27691His)
c.64834G>C (p.Asp21612His)
c.54688G>C (p.Asp18230His)
2g.178549783C>TCA349495658TTN,TTN-AS1c.84235G>A (p.Asp28079Asn)
c.65320G>A (p.Asp21774Asn)
c.65119G>A (p.Asp21707Asn)
c.64744G>A (p.Asp21582Asn)
c.91939G>A (p.Asp30647Asn)
c.87016G>A (p.Asp29006Asn)
n.447-21517C>T
n.2043+7422C>T
c.91036G>A (p.Asp30346Asn)
c.64930G>A (p.Asp21644Asn)
c.64789G>A (p.Asp21597Asn)
c.90832G>A (p.Asp30278Asn)
c.86230G>A (p.Asp28744Asn)
c.86227G>A (p.Asp28743Asn)
c.83269G>A (p.Asp27757Asn)
c.64885G>A (p.Asp21629Asn)
c.86380G>A (p.Asp28794Asn)
c.86377G>A (p.Asp28793Asn)
c.85810G>A (p.Asp28604Asn)
c.83152G>A (p.Asp27718Asn)
c.83071G>A (p.Asp27691Asn)
c.64834G>A (p.Asp21612Asn)
c.54688G>A (p.Asp18230Asn)
2g.178549784A>CCA349495660TTN,TTN-AS1c.84234T>G (p.Asn28078Lys)
c.65319T>G (p.Asn21773Lys)
c.65118T>G (p.Asn21706Lys)
c.64743T>G (p.Asn21581Lys)
c.91938T>G (p.Asn30646Lys)
c.87015T>G (p.Asn29005Lys)
n.447-21516A>C
n.2043+7423A>C
c.91035T>G (p.Asn30345Lys)
c.64929T>G (p.Asn21643Lys)
c.64788T>G (p.Asn21596Lys)
c.90831T>G (p.Asn30277Lys)
c.86229T>G (p.Asn28743Lys)
c.86226T>G (p.Asn28742Lys)
c.83268T>G (p.Asn27756Lys)
c.64884T>G (p.Asn21628Lys)
c.86379T>G (p.Asn28793Lys)
c.86376T>G (p.Asn28792Lys)
c.85809T>G (p.Asn28603Lys)
c.83151T>G (p.Asn27717Lys)
c.83070T>G (p.Asn27690Lys)
c.64833T>G (p.Asn21611Lys)
c.54687T>G (p.Asn18229Lys)
2g.178549784A>GCA430244802TTN,TTN-AS1c.84234T>C (p.Asn28078=)
c.65319T>C (p.Asn21773=)
c.65118T>C (p.Asn21706=)
c.64743T>C (p.Asn21581=)
c.91938T>C (p.Asn30646=)
c.87015T>C (p.Asn29005=)
n.447-21516A>G
n.2043+7423A>G
c.91035T>C (p.Asn30345=)
c.64929T>C (p.Asn21643=)
c.64788T>C (p.Asn21596=)
c.90831T>C (p.Asn30277=)
c.86229T>C (p.Asn28743=)
c.86226T>C (p.Asn28742=)
c.83268T>C (p.Asn27756=)
c.64884T>C (p.Asn21628=)
c.86379T>C (p.Asn28793=)
c.86376T>C (p.Asn28792=)
c.85809T>C (p.Asn28603=)
c.83151T>C (p.Asn27717=)
c.83070T>C (p.Asn27690=)
c.64833T>C (p.Asn21611=)
c.54687T>C (p.Asn18229=)
2g.178549784A>TCA349495661TTN,TTN-AS1c.84234T>A (p.Asn28078Lys)
c.65319T>A (p.Asn21773Lys)
c.65118T>A (p.Asn21706Lys)
c.64743T>A (p.Asn21581Lys)
c.91938T>A (p.Asn30646Lys)
c.87015T>A (p.Asn29005Lys)
n.447-21516A>T
n.2043+7423A>T
c.91035T>A (p.Asn30345Lys)
c.64929T>A (p.Asn21643Lys)
c.64788T>A (p.Asn21596Lys)
c.90831T>A (p.Asn30277Lys)
c.86229T>A (p.Asn28743Lys)
c.86226T>A (p.Asn28742Lys)
c.83268T>A (p.Asn27756Lys)
c.64884T>A (p.Asn21628Lys)
c.86379T>A (p.Asn28793Lys)
c.86376T>A (p.Asn28792Lys)
c.85809T>A (p.Asn28603Lys)
c.83151T>A (p.Asn27717Lys)
c.83070T>A (p.Asn27690Lys)
c.64833T>A (p.Asn21611Lys)
c.54687T>A (p.Asn18229Lys)
2g.178549785T>ACA349495668TTN,TTN-AS1c.84233A>T (p.Asn28078Ile)
c.65318A>T (p.Asn21773Ile)
c.65117A>T (p.Asn21706Ile)
c.64742A>T (p.Asn21581Ile)
c.91937A>T (p.Asn30646Ile)
c.87014A>T (p.Asn29005Ile)
n.447-21515T>A
n.2043+7424T>A
c.91034A>T (p.Asn30345Ile)
c.64928A>T (p.Asn21643Ile)
c.64787A>T (p.Asn21596Ile)
c.90830A>T (p.Asn30277Ile)
c.86228A>T (p.Asn28743Ile)
c.86225A>T (p.Asn28742Ile)
c.83267A>T (p.Asn27756Ile)
c.64883A>T (p.Asn21628Ile)
c.86378A>T (p.Asn28793Ile)
c.86375A>T (p.Asn28792Ile)
c.85808A>T (p.Asn28603Ile)
c.83150A>T (p.Asn27717Ile)
c.83069A>T (p.Asn27690Ile)
c.64832A>T (p.Asn21611Ile)
c.54686A>T (p.Asn18229Ile)
 gnomAD v4
2g.178549785T>CCA141241TTN,TTN-AS1c.84233A>G (p.Asn28078Ser)
c.65318A>G (p.Asn21773Ser)
c.65117A>G (p.Asn21706Ser)
c.64742A>G (p.Asn21581Ser)
c.91937A>G (p.Asn30646Ser)
c.87014A>G (p.Asn29005Ser)
n.447-21515T>C
n.2043+7424T>C
c.91034A>G (p.Asn30345Ser)
c.64928A>G (p.Asn21643Ser)
c.64787A>G (p.Asn21596Ser)
c.90830A>G (p.Asn30277Ser)
c.86228A>G (p.Asn28743Ser)
c.86225A>G (p.Asn28742Ser)
c.83267A>G (p.Asn27756Ser)
c.64883A>G (p.Asn21628Ser)
c.86378A>G (p.Asn28793Ser)
c.86375A>G (p.Asn28792Ser)
c.85808A>G (p.Asn28603Ser)
c.83150A>G (p.Asn27717Ser)
c.83069A>G (p.Asn27690Ser)
c.64832A>G (p.Asn21611Ser)
c.54686A>G (p.Asn18229Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549785T>GCA349495663TTN,TTN-AS1c.84233A>C (p.Asn28078Thr)
c.65318A>C (p.Asn21773Thr)
c.65117A>C (p.Asn21706Thr)
c.64742A>C (p.Asn21581Thr)
c.91937A>C (p.Asn30646Thr)
c.87014A>C (p.Asn29005Thr)
n.447-21515T>G
n.2043+7424T>G
c.91034A>C (p.Asn30345Thr)
c.64928A>C (p.Asn21643Thr)
c.64787A>C (p.Asn21596Thr)
c.90830A>C (p.Asn30277Thr)
c.86228A>C (p.Asn28743Thr)
c.86225A>C (p.Asn28742Thr)
c.83267A>C (p.Asn27756Thr)
c.64883A>C (p.Asn21628Thr)
c.86378A>C (p.Asn28793Thr)
c.86375A>C (p.Asn28792Thr)
c.85808A>C (p.Asn28603Thr)
c.83150A>C (p.Asn27717Thr)
c.83069A>C (p.Asn27690Thr)
c.64832A>C (p.Asn21611Thr)
c.54686A>C (p.Asn18229Thr)
2g.178549785T=CA1310520103TTN,TTN-AS1c.84233A= (p.Asn28078=)
c.65318A= (p.Asn21773=)
c.65117A= (p.Asn21706=)
c.64742A= (p.Asn21581=)
c.91937A= (p.Asn30646=)
c.87014A= (p.Asn29005=)
n.447-21515T=
n.2043+7424T=
c.91034A= (p.Asn30345=)
c.64928A= (p.Asn21643=)
c.64787A= (p.Asn21596=)
c.90830A= (p.Asn30277=)
c.86228A= (p.Asn28743=)
c.86225A= (p.Asn28742=)
c.83267A= (p.Asn27756=)
c.64883A= (p.Asn21628=)
c.86378A= (p.Asn28793=)
c.86375A= (p.Asn28792=)
c.85808A= (p.Asn28603=)
c.83150A= (p.Asn27717=)
c.83069A= (p.Asn27690=)
c.64832A= (p.Asn21611=)
c.54686A= (p.Asn18229=)
2g.178549786T>ACA349495672TTN,TTN-AS1c.84232A>T (p.Asn28078Tyr)
c.65317A>T (p.Asn21773Tyr)
c.65116A>T (p.Asn21706Tyr)
c.64741A>T (p.Asn21581Tyr)
c.91936A>T (p.Asn30646Tyr)
c.87013A>T (p.Asn29005Tyr)
n.447-21514T>A
n.2043+7425T>A
c.91033A>T (p.Asn30345Tyr)
c.64927A>T (p.Asn21643Tyr)
c.64786A>T (p.Asn21596Tyr)
c.90829A>T (p.Asn30277Tyr)
c.86227A>T (p.Asn28743Tyr)
c.86224A>T (p.Asn28742Tyr)
c.83266A>T (p.Asn27756Tyr)
c.64882A>T (p.Asn21628Tyr)
c.86377A>T (p.Asn28793Tyr)
c.86374A>T (p.Asn28792Tyr)
c.85807A>T (p.Asn28603Tyr)
c.83149A>T (p.Asn27717Tyr)
c.83068A>T (p.Asn27690Tyr)
c.64831A>T (p.Asn21611Tyr)
c.54685A>T (p.Asn18229Tyr)
2g.178549786T>CCA200064TTN,TTN-AS1c.84232A>G (p.Asn28078Asp)
c.65317A>G (p.Asn21773Asp)
c.65116A>G (p.Asn21706Asp)
c.64741A>G (p.Asn21581Asp)
c.91936A>G (p.Asn30646Asp)
c.87013A>G (p.Asn29005Asp)
n.447-21514T>C
n.2043+7425T>C
c.91033A>G (p.Asn30345Asp)
c.64927A>G (p.Asn21643Asp)
c.64786A>G (p.Asn21596Asp)
c.90829A>G (p.Asn30277Asp)
c.86227A>G (p.Asn28743Asp)
c.86224A>G (p.Asn28742Asp)
c.83266A>G (p.Asn27756Asp)
c.64882A>G (p.Asn21628Asp)
c.86377A>G (p.Asn28793Asp)
c.86374A>G (p.Asn28792Asp)
c.85807A>G (p.Asn28603Asp)
c.83149A>G (p.Asn27717Asp)
c.83068A>G (p.Asn27690Asp)
c.64831A>G (p.Asn21611Asp)
c.54685A>G (p.Asn18229Asp)
 ClinVar dbSNP
2g.178549786T>GCA349495682TTN,TTN-AS1c.84232A>C (p.Asn28078His)
c.65317A>C (p.Asn21773His)
c.65116A>C (p.Asn21706His)
c.64741A>C (p.Asn21581His)
c.91936A>C (p.Asn30646His)
c.87013A>C (p.Asn29005His)
n.447-21514T>G
n.2043+7425T>G
c.91033A>C (p.Asn30345His)
c.64927A>C (p.Asn21643His)
c.64786A>C (p.Asn21596His)
c.90829A>C (p.Asn30277His)
c.86227A>C (p.Asn28743His)
c.86224A>C (p.Asn28742His)
c.83266A>C (p.Asn27756His)
c.64882A>C (p.Asn21628His)
c.86377A>C (p.Asn28793His)
c.86374A>C (p.Asn28792His)
c.85807A>C (p.Asn28603His)
c.83149A>C (p.Asn27717His)
c.83068A>C (p.Asn27690His)
c.64831A>C (p.Asn21611His)
c.54685A>C (p.Asn18229His)
 ClinVar dbSNP gnomAD v4
2g.178549786T=CA1310520104TTN,TTN-AS1c.84232A= (p.Asn28078=)
c.65317A= (p.Asn21773=)
c.65116A= (p.Asn21706=)
c.64741A= (p.Asn21581=)
c.91936A= (p.Asn30646=)
c.87013A= (p.Asn29005=)
n.447-21514T=
n.2043+7425T=
c.91033A= (p.Asn30345=)
c.64927A= (p.Asn21643=)
c.64786A= (p.Asn21596=)
c.90829A= (p.Asn30277=)
c.86227A= (p.Asn28743=)
c.86224A= (p.Asn28742=)
c.83266A= (p.Asn27756=)
c.64882A= (p.Asn21628=)
c.86377A= (p.Asn28793=)
c.86374A= (p.Asn28792=)
c.85807A= (p.Asn28603=)
c.83149A= (p.Asn27717=)
c.83068A= (p.Asn27690=)
c.64831A= (p.Asn21611=)
c.54685A= (p.Asn18229=)
2g.178549787G>ACA430244807TTN,TTN-AS1c.84231C>T (p.Leu28077=)
c.65316C>T (p.Leu21772=)
c.65115C>T (p.Leu21705=)
c.64740C>T (p.Leu21580=)
c.91935C>T (p.Leu30645=)
c.87012C>T (p.Leu29004=)
n.447-21513G>A
n.2043+7426G>A
c.91032C>T (p.Leu30344=)
c.64926C>T (p.Leu21642=)
c.64785C>T (p.Leu21595=)
c.90828C>T (p.Leu30276=)
c.86226C>T (p.Leu28742=)
c.86223C>T (p.Leu28741=)
c.83265C>T (p.Leu27755=)
c.64881C>T (p.Leu21627=)
c.86376C>T (p.Leu28792=)
c.86373C>T (p.Leu28791=)
c.85806C>T (p.Leu28602=)
c.83148C>T (p.Leu27716=)
c.83067C>T (p.Leu27689=)
c.64830C>T (p.Leu21610=)
c.54684C>T (p.Leu18228=)
2g.178549787G>CCA16610231TTN,TTN-AS1c.84231C>G (p.Leu28077=)
c.65316C>G (p.Leu21772=)
c.65115C>G (p.Leu21705=)
c.64740C>G (p.Leu21580=)
c.91935C>G (p.Leu30645=)
c.87012C>G (p.Leu29004=)
n.447-21513G>C
n.2043+7426G>C
c.91032C>G (p.Leu30344=)
c.64926C>G (p.Leu21642=)
c.64785C>G (p.Leu21595=)
c.90828C>G (p.Leu30276=)
c.86226C>G (p.Leu28742=)
c.86223C>G (p.Leu28741=)
c.83265C>G (p.Leu27755=)
c.64881C>G (p.Leu21627=)
c.86376C>G (p.Leu28792=)
c.86373C>G (p.Leu28791=)
c.85806C>G (p.Leu28602=)
c.83148C>G (p.Leu27716=)
c.83067C>G (p.Leu27689=)
c.64830C>G (p.Leu21610=)
c.54684C>G (p.Leu18228=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178549787G=CA1310520105TTN,TTN-AS1c.84231C= (p.Leu28077=)
c.65316C= (p.Leu21772=)
c.65115C= (p.Leu21705=)
c.64740C= (p.Leu21580=)
c.91935C= (p.Leu30645=)
c.87012C= (p.Leu29004=)
n.447-21513G=
n.2043+7426G=
c.91032C= (p.Leu30344=)
c.64926C= (p.Leu21642=)
c.64785C= (p.Leu21595=)
c.90828C= (p.Leu30276=)
c.86226C= (p.Leu28742=)
c.86223C= (p.Leu28741=)
c.83265C= (p.Leu27755=)
c.64881C= (p.Leu21627=)
c.86376C= (p.Leu28792=)
c.86373C= (p.Leu28791=)
c.85806C= (p.Leu28602=)
c.83148C= (p.Leu27716=)
c.83067C= (p.Leu27689=)
c.64830C= (p.Leu21610=)
c.54684C= (p.Leu18228=)
2g.178549787G>TCA430244805TTN,TTN-AS1c.84231C>A (p.Leu28077=)
c.65316C>A (p.Leu21772=)
c.65115C>A (p.Leu21705=)
c.64740C>A (p.Leu21580=)
c.91935C>A (p.Leu30645=)
c.87012C>A (p.Leu29004=)
n.447-21513G>T
n.2043+7426G>T
c.91032C>A (p.Leu30344=)
c.64926C>A (p.Leu21642=)
c.64785C>A (p.Leu21595=)
c.90828C>A (p.Leu30276=)
c.86226C>A (p.Leu28742=)
c.86223C>A (p.Leu28741=)
c.83265C>A (p.Leu27755=)
c.64881C>A (p.Leu21627=)
c.86376C>A (p.Leu28792=)
c.86373C>A (p.Leu28791=)
c.85806C>A (p.Leu28602=)
c.83148C>A (p.Leu27716=)
c.83067C>A (p.Leu27689=)
c.64830C>A (p.Leu21610=)
c.54684C>A (p.Leu18228=)
2g.178549788A=CA1310520106TTN,TTN-AS1c.84230T= (p.Leu28077=)
c.65315T= (p.Leu21772=)
c.65114T= (p.Leu21705=)
c.64739T= (p.Leu21580=)
c.91934T= (p.Leu30645=)
c.87011T= (p.Leu29004=)
n.447-21512A=
n.2043+7427A=
c.91031T= (p.Leu30344=)
c.64925T= (p.Leu21642=)
c.64784T= (p.Leu21595=)
c.90827T= (p.Leu30276=)
c.86225T= (p.Leu28742=)
c.86222T= (p.Leu28741=)
c.83264T= (p.Leu27755=)
c.64880T= (p.Leu21627=)
c.86375T= (p.Leu28792=)
c.86372T= (p.Leu28791=)
c.85805T= (p.Leu28602=)
c.83147T= (p.Leu27716=)
c.83066T= (p.Leu27689=)
c.64829T= (p.Leu21610=)
c.54683T= (p.Leu18228=)
2g.178549788A>CCA349495686TTN,TTN-AS1c.84230T>G (p.Leu28077Arg)
c.65315T>G (p.Leu21772Arg)
c.65114T>G (p.Leu21705Arg)
c.64739T>G (p.Leu21580Arg)
c.91934T>G (p.Leu30645Arg)
c.87011T>G (p.Leu29004Arg)
n.447-21512A>C
n.2043+7427A>C
c.91031T>G (p.Leu30344Arg)
c.64925T>G (p.Leu21642Arg)
c.64784T>G (p.Leu21595Arg)
c.90827T>G (p.Leu30276Arg)
c.86225T>G (p.Leu28742Arg)
c.86222T>G (p.Leu28741Arg)
c.83264T>G (p.Leu27755Arg)
c.64880T>G (p.Leu21627Arg)
c.86375T>G (p.Leu28792Arg)
c.86372T>G (p.Leu28791Arg)
c.85805T>G (p.Leu28602Arg)
c.83147T>G (p.Leu27716Arg)
c.83066T>G (p.Leu27689Arg)
c.64829T>G (p.Leu21610Arg)
c.54683T>G (p.Leu18228Arg)
2g.178549788A>GCA349495689TTN,TTN-AS1c.84230T>C (p.Leu28077Pro)
c.65315T>C (p.Leu21772Pro)
c.65114T>C (p.Leu21705Pro)
c.64739T>C (p.Leu21580Pro)
c.91934T>C (p.Leu30645Pro)
c.87011T>C (p.Leu29004Pro)
n.447-21512A>G
n.2043+7427A>G
c.91031T>C (p.Leu30344Pro)
c.64925T>C (p.Leu21642Pro)
c.64784T>C (p.Leu21595Pro)
c.90827T>C (p.Leu30276Pro)
c.86225T>C (p.Leu28742Pro)
c.86222T>C (p.Leu28741Pro)
c.83264T>C (p.Leu27755Pro)
c.64880T>C (p.Leu21627Pro)
c.86375T>C (p.Leu28792Pro)
c.86372T>C (p.Leu28791Pro)
c.85805T>C (p.Leu28602Pro)
c.83147T>C (p.Leu27716Pro)
c.83066T>C (p.Leu27689Pro)
c.64829T>C (p.Leu21610Pro)
c.54683T>C (p.Leu18228Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.178549788A>TCA10587454TTN,TTN-AS1c.84230T>A (p.Leu28077His)
c.65315T>A (p.Leu21772His)
c.65114T>A (p.Leu21705His)
c.64739T>A (p.Leu21580His)
c.91934T>A (p.Leu30645His)
c.87011T>A (p.Leu29004His)
n.447-21512A>T
n.2043+7427A>T
c.91031T>A (p.Leu30344His)
c.64925T>A (p.Leu21642His)
c.64784T>A (p.Leu21595His)
c.90827T>A (p.Leu30276His)
c.86225T>A (p.Leu28742His)
c.86222T>A (p.Leu28741His)
c.83264T>A (p.Leu27755His)
c.64880T>A (p.Leu21627His)
c.86375T>A (p.Leu28792His)
c.86372T>A (p.Leu28791His)
c.85805T>A (p.Leu28602His)
c.83147T>A (p.Leu27716His)
c.83066T>A (p.Leu27689His)
c.64829T>A (p.Leu21610His)
c.54683T>A (p.Leu18228His)
 ClinVar dbSNP
2g.178549789G>ACA349495694TTN,TTN-AS1c.84229C>T (p.Leu28077Phe)
c.65314C>T (p.Leu21772Phe)
c.65113C>T (p.Leu21705Phe)
c.64738C>T (p.Leu21580Phe)
c.91933C>T (p.Leu30645Phe)
c.87010C>T (p.Leu29004Phe)
n.447-21511G>A
n.2043+7428G>A
c.91030C>T (p.Leu30344Phe)
c.64924C>T (p.Leu21642Phe)
c.64783C>T (p.Leu21595Phe)
c.90826C>T (p.Leu30276Phe)
c.86224C>T (p.Leu28742Phe)
c.86221C>T (p.Leu28741Phe)
c.83263C>T (p.Leu27755Phe)
c.64879C>T (p.Leu21627Phe)
c.86374C>T (p.Leu28792Phe)
c.86371C>T (p.Leu28791Phe)
c.85804C>T (p.Leu28602Phe)
c.83146C>T (p.Leu27716Phe)
c.83065C>T (p.Leu27689Phe)
c.64828C>T (p.Leu21610Phe)
c.54682C>T (p.Leu18228Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549789G>CCA349495712TTN,TTN-AS1c.84229C>G (p.Leu28077Val)
c.65314C>G (p.Leu21772Val)
c.65113C>G (p.Leu21705Val)
c.64738C>G (p.Leu21580Val)
c.91933C>G (p.Leu30645Val)
c.87010C>G (p.Leu29004Val)
n.447-21511G>C
n.2043+7428G>C
c.91030C>G (p.Leu30344Val)
c.64924C>G (p.Leu21642Val)
c.64783C>G (p.Leu21595Val)
c.90826C>G (p.Leu30276Val)
c.86224C>G (p.Leu28742Val)
c.86221C>G (p.Leu28741Val)
c.83263C>G (p.Leu27755Val)
c.64879C>G (p.Leu21627Val)
c.86374C>G (p.Leu28792Val)
c.86371C>G (p.Leu28791Val)
c.85804C>G (p.Leu28602Val)
c.83146C>G (p.Leu27716Val)
c.83065C>G (p.Leu27689Val)
c.64828C>G (p.Leu21610Val)
c.54682C>G (p.Leu18228Val)
2g.178549789G=CA1310520107TTN,TTN-AS1c.84229C= (p.Leu28077=)
c.65314C= (p.Leu21772=)
c.65113C= (p.Leu21705=)
c.64738C= (p.Leu21580=)
c.91933C= (p.Leu30645=)
c.87010C= (p.Leu29004=)
n.447-21511G=
n.2043+7428G=
c.91030C= (p.Leu30344=)
c.64924C= (p.Leu21642=)
c.64783C= (p.Leu21595=)
c.90826C= (p.Leu30276=)
c.86224C= (p.Leu28742=)
c.86221C= (p.Leu28741=)
c.83263C= (p.Leu27755=)
c.64879C= (p.Leu21627=)
c.86374C= (p.Leu28792=)
c.86371C= (p.Leu28791=)
c.85804C= (p.Leu28602=)
c.83146C= (p.Leu27716=)
c.83065C= (p.Leu27689=)
c.64828C= (p.Leu21610=)
c.54682C= (p.Leu18228=)
2g.178549789G>TCA349495710TTN,TTN-AS1c.84229C>A (p.Leu28077Ile)
c.65314C>A (p.Leu21772Ile)
c.65113C>A (p.Leu21705Ile)
c.64738C>A (p.Leu21580Ile)
c.91933C>A (p.Leu30645Ile)
c.87010C>A (p.Leu29004Ile)
n.447-21511G>T
n.2043+7428G>T
c.91030C>A (p.Leu30344Ile)
c.64924C>A (p.Leu21642Ile)
c.64783C>A (p.Leu21595Ile)
c.90826C>A (p.Leu30276Ile)
c.86224C>A (p.Leu28742Ile)
c.86221C>A (p.Leu28741Ile)
c.83263C>A (p.Leu27755Ile)
c.64879C>A (p.Leu21627Ile)
c.86374C>A (p.Leu28792Ile)
c.86371C>A (p.Leu28791Ile)
c.85804C>A (p.Leu28602Ile)
c.83146C>A (p.Leu27716Ile)
c.83065C>A (p.Leu27689Ile)
c.64828C>A (p.Leu21610Ile)
c.54682C>A (p.Leu18228Ile)
 gnomAD v4
2g.178549790T>ACA430244815TTN,TTN-AS1c.84228A>T (p.Pro28076=)
c.65313A>T (p.Pro21771=)
c.65112A>T (p.Pro21704=)
c.64737A>T (p.Pro21579=)
c.91932A>T (p.Pro30644=)
c.87009A>T (p.Pro29003=)
n.447-21510T>A
n.2043+7429T>A
c.91029A>T (p.Pro30343=)
c.64923A>T (p.Pro21641=)
c.64782A>T (p.Pro21594=)
c.90825A>T (p.Pro30275=)
c.86223A>T (p.Pro28741=)
c.86220A>T (p.Pro28740=)
c.83262A>T (p.Pro27754=)
c.64878A>T (p.Pro21626=)
c.86373A>T (p.Pro28791=)
c.86370A>T (p.Pro28790=)
c.85803A>T (p.Pro28601=)
c.83145A>T (p.Pro27715=)
c.83064A>T (p.Pro27688=)
c.64827A>T (p.Pro21609=)
c.54681A>T (p.Pro18227=)
 ClinVar
2g.178549790T>CCA430244813TTN,TTN-AS1c.84228A>G (p.Pro28076=)
c.65313A>G (p.Pro21771=)
c.65112A>G (p.Pro21704=)
c.64737A>G (p.Pro21579=)
c.91932A>G (p.Pro30644=)
c.87009A>G (p.Pro29003=)
n.447-21510T>C
n.2043+7429T>C
c.91029A>G (p.Pro30343=)
c.64923A>G (p.Pro21641=)
c.64782A>G (p.Pro21594=)
c.90825A>G (p.Pro30275=)
c.86223A>G (p.Pro28741=)
c.86220A>G (p.Pro28740=)
c.83262A>G (p.Pro27754=)
c.64878A>G (p.Pro21626=)
c.86373A>G (p.Pro28791=)
c.86370A>G (p.Pro28790=)
c.85803A>G (p.Pro28601=)
c.83145A>G (p.Pro27715=)
c.83064A>G (p.Pro27688=)
c.64827A>G (p.Pro21609=)
c.54681A>G (p.Pro18227=)
 gnomAD v4
2g.178549790T>GCA430244811TTN,TTN-AS1c.84228A>C (p.Pro28076=)
c.65313A>C (p.Pro21771=)
c.65112A>C (p.Pro21704=)
c.64737A>C (p.Pro21579=)
c.91932A>C (p.Pro30644=)
c.87009A>C (p.Pro29003=)
n.447-21510T>G
n.2043+7429T>G
c.91029A>C (p.Pro30343=)
c.64923A>C (p.Pro21641=)
c.64782A>C (p.Pro21594=)
c.90825A>C (p.Pro30275=)
c.86223A>C (p.Pro28741=)
c.86220A>C (p.Pro28740=)
c.83262A>C (p.Pro27754=)
c.64878A>C (p.Pro21626=)
c.86373A>C (p.Pro28791=)
c.86370A>C (p.Pro28790=)
c.85803A>C (p.Pro28601=)
c.83145A>C (p.Pro27715=)
c.83064A>C (p.Pro27688=)
c.64827A>C (p.Pro21609=)
c.54681A>C (p.Pro18227=)
2g.178549791G>ACA349495714TTN,TTN-AS1c.84227C>T (p.Pro28076Leu)
c.65312C>T (p.Pro21771Leu)
c.65111C>T (p.Pro21704Leu)
c.64736C>T (p.Pro21579Leu)
c.91931C>T (p.Pro30644Leu)
c.87008C>T (p.Pro29003Leu)
n.447-21509G>A
n.2043+7430G>A
c.91028C>T (p.Pro30343Leu)
c.64922C>T (p.Pro21641Leu)
c.64781C>T (p.Pro21594Leu)
c.90824C>T (p.Pro30275Leu)
c.86222C>T (p.Pro28741Leu)
c.86219C>T (p.Pro28740Leu)
c.83261C>T (p.Pro27754Leu)
c.64877C>T (p.Pro21626Leu)
c.86372C>T (p.Pro28791Leu)
c.86369C>T (p.Pro28790Leu)
c.85802C>T (p.Pro28601Leu)
c.83144C>T (p.Pro27715Leu)
c.83063C>T (p.Pro27688Leu)
c.64826C>T (p.Pro21609Leu)
c.54680C>T (p.Pro18227Leu)
 dbSNP
2g.178549791G>CCA349495716TTN,TTN-AS1c.84227C>G (p.Pro28076Arg)
c.65312C>G (p.Pro21771Arg)
c.65111C>G (p.Pro21704Arg)
c.64736C>G (p.Pro21579Arg)
c.91931C>G (p.Pro30644Arg)
c.87008C>G (p.Pro29003Arg)
n.447-21509G>C
n.2043+7430G>C
c.91028C>G (p.Pro30343Arg)
c.64922C>G (p.Pro21641Arg)
c.64781C>G (p.Pro21594Arg)
c.90824C>G (p.Pro30275Arg)
c.86222C>G (p.Pro28741Arg)
c.86219C>G (p.Pro28740Arg)
c.83261C>G (p.Pro27754Arg)
c.64877C>G (p.Pro21626Arg)
c.86372C>G (p.Pro28791Arg)
c.86369C>G (p.Pro28790Arg)
c.85802C>G (p.Pro28601Arg)
c.83144C>G (p.Pro27715Arg)
c.83063C>G (p.Pro27688Arg)
c.64826C>G (p.Pro21609Arg)
c.54680C>G (p.Pro18227Arg)
2g.178549791G=CA1310520108TTN,TTN-AS1c.84227C= (p.Pro28076=)
c.65312C= (p.Pro21771=)
c.65111C= (p.Pro21704=)
c.64736C= (p.Pro21579=)
c.91931C= (p.Pro30644=)
c.87008C= (p.Pro29003=)
n.447-21509G=
n.2043+7430G=
c.91028C= (p.Pro30343=)
c.64922C= (p.Pro21641=)
c.64781C= (p.Pro21594=)
c.90824C= (p.Pro30275=)
c.86222C= (p.Pro28741=)
c.86219C= (p.Pro28740=)
c.83261C= (p.Pro27754=)
c.64877C= (p.Pro21626=)
c.86372C= (p.Pro28791=)
c.86369C= (p.Pro28790=)
c.85802C= (p.Pro28601=)
c.83144C= (p.Pro27715=)
c.83063C= (p.Pro27688=)
c.64826C= (p.Pro21609=)
c.54680C= (p.Pro18227=)
2g.178549791G>TCA349495721TTN,TTN-AS1c.84227C>A (p.Pro28076Gln)
c.65312C>A (p.Pro21771Gln)
c.65111C>A (p.Pro21704Gln)
c.64736C>A (p.Pro21579Gln)
c.91931C>A (p.Pro30644Gln)
c.87008C>A (p.Pro29003Gln)
n.447-21509G>T
n.2043+7430G>T
c.91028C>A (p.Pro30343Gln)
c.64922C>A (p.Pro21641Gln)
c.64781C>A (p.Pro21594Gln)
c.90824C>A (p.Pro30275Gln)
c.86222C>A (p.Pro28741Gln)
c.86219C>A (p.Pro28740Gln)
c.83261C>A (p.Pro27754Gln)
c.64877C>A (p.Pro21626Gln)
c.86372C>A (p.Pro28791Gln)
c.86369C>A (p.Pro28790Gln)
c.85802C>A (p.Pro28601Gln)
c.83144C>A (p.Pro27715Gln)
c.83063C>A (p.Pro27688Gln)
c.64826C>A (p.Pro21609Gln)
c.54680C>A (p.Pro18227Gln)
2g.178549792G>ACA349495726TTN,TTN-AS1c.84226C>T (p.Pro28076Ser)
c.65311C>T (p.Pro21771Ser)
c.65110C>T (p.Pro21704Ser)
c.64735C>T (p.Pro21579Ser)
c.91930C>T (p.Pro30644Ser)
c.87007C>T (p.Pro29003Ser)
n.447-21508G>A
n.2043+7431G>A
c.91027C>T (p.Pro30343Ser)
c.64921C>T (p.Pro21641Ser)
c.64780C>T (p.Pro21594Ser)
c.90823C>T (p.Pro30275Ser)
c.86221C>T (p.Pro28741Ser)
c.86218C>T (p.Pro28740Ser)
c.83260C>T (p.Pro27754Ser)
c.64876C>T (p.Pro21626Ser)
c.86371C>T (p.Pro28791Ser)
c.86368C>T (p.Pro28790Ser)
c.85801C>T (p.Pro28601Ser)
c.83143C>T (p.Pro27715Ser)
c.83062C>T (p.Pro27688Ser)
c.64825C>T (p.Pro21609Ser)
c.54679C>T (p.Pro18227Ser)
2g.178549792G>CCA349495729TTN,TTN-AS1c.84226C>G (p.Pro28076Ala)
c.65311C>G (p.Pro21771Ala)
c.65110C>G (p.Pro21704Ala)
c.64735C>G (p.Pro21579Ala)
c.91930C>G (p.Pro30644Ala)
c.87007C>G (p.Pro29003Ala)
n.447-21508G>C
n.2043+7431G>C
c.91027C>G (p.Pro30343Ala)
c.64921C>G (p.Pro21641Ala)
c.64780C>G (p.Pro21594Ala)
c.90823C>G (p.Pro30275Ala)
c.86221C>G (p.Pro28741Ala)
c.86218C>G (p.Pro28740Ala)
c.83260C>G (p.Pro27754Ala)
c.64876C>G (p.Pro21626Ala)
c.86371C>G (p.Pro28791Ala)
c.86368C>G (p.Pro28790Ala)
c.85801C>G (p.Pro28601Ala)
c.83143C>G (p.Pro27715Ala)
c.83062C>G (p.Pro27688Ala)
c.64825C>G (p.Pro21609Ala)
c.54679C>G (p.Pro18227Ala)
 dbSNP
2g.178549792G=CA1310520109TTN,TTN-AS1c.84226C= (p.Pro28076=)
c.65311C= (p.Pro21771=)
c.65110C= (p.Pro21704=)
c.64735C= (p.Pro21579=)
c.91930C= (p.Pro30644=)
c.87007C= (p.Pro29003=)
n.447-21508G=
n.2043+7431G=
c.91027C= (p.Pro30343=)
c.64921C= (p.Pro21641=)
c.64780C= (p.Pro21594=)
c.90823C= (p.Pro30275=)
c.86221C= (p.Pro28741=)
c.86218C= (p.Pro28740=)
c.83260C= (p.Pro27754=)
c.64876C= (p.Pro21626=)
c.86371C= (p.Pro28791=)
c.86368C= (p.Pro28790=)
c.85801C= (p.Pro28601=)
c.83143C= (p.Pro27715=)
c.83062C= (p.Pro27688=)
c.64825C= (p.Pro21609=)
c.54679C= (p.Pro18227=)
2g.178549792G>TCA349495731TTN,TTN-AS1c.84226C>A (p.Pro28076Thr)
c.65311C>A (p.Pro21771Thr)
c.65110C>A (p.Pro21704Thr)
c.64735C>A (p.Pro21579Thr)
c.91930C>A (p.Pro30644Thr)
c.87007C>A (p.Pro29003Thr)
n.447-21508G>T
n.2043+7431G>T
c.91027C>A (p.Pro30343Thr)
c.64921C>A (p.Pro21641Thr)
c.64780C>A (p.Pro21594Thr)
c.90823C>A (p.Pro30275Thr)
c.86221C>A (p.Pro28741Thr)
c.86218C>A (p.Pro28740Thr)
c.83260C>A (p.Pro27754Thr)
c.64876C>A (p.Pro21626Thr)
c.86371C>A (p.Pro28791Thr)
c.86368C>A (p.Pro28790Thr)
c.85801C>A (p.Pro28601Thr)
c.83143C>A (p.Pro27715Thr)
c.83062C>A (p.Pro27688Thr)
c.64825C>A (p.Pro21609Thr)
c.54679C>A (p.Pro18227Thr)
 dbSNP
2g.178549793G>ACA430244820TTN,TTN-AS1c.84225C>T (p.Ala28075=)
c.65310C>T (p.Ala21770=)
c.65109C>T (p.Ala21703=)
c.64734C>T (p.Ala21578=)
c.91929C>T (p.Ala30643=)
c.87006C>T (p.Ala29002=)
n.447-21507G>A
n.2043+7432G>A
c.91026C>T (p.Ala30342=)
c.64920C>T (p.Ala21640=)
c.64779C>T (p.Ala21593=)
c.90822C>T (p.Ala30274=)
c.86220C>T (p.Ala28740=)
c.86217C>T (p.Ala28739=)
c.83259C>T (p.Ala27753=)
c.64875C>T (p.Ala21625=)
c.86370C>T (p.Ala28790=)
c.86367C>T (p.Ala28789=)
c.85800C>T (p.Ala28600=)
c.83142C>T (p.Ala27714=)
c.83061C>T (p.Ala27687=)
c.64824C>T (p.Ala21608=)
c.54678C>T (p.Ala18226=)
 dbSNP
2g.178549793G>CCA430244822TTN,TTN-AS1c.84225C>G (p.Ala28075=)
c.65310C>G (p.Ala21770=)
c.65109C>G (p.Ala21703=)
c.64734C>G (p.Ala21578=)
c.91929C>G (p.Ala30643=)
c.87006C>G (p.Ala29002=)
n.447-21507G>C
n.2043+7432G>C
c.91026C>G (p.Ala30342=)
c.64920C>G (p.Ala21640=)
c.64779C>G (p.Ala21593=)
c.90822C>G (p.Ala30274=)
c.86220C>G (p.Ala28740=)
c.86217C>G (p.Ala28739=)
c.83259C>G (p.Ala27753=)
c.64875C>G (p.Ala21625=)
c.86370C>G (p.Ala28790=)
c.86367C>G (p.Ala28789=)
c.85800C>G (p.Ala28600=)
c.83142C>G (p.Ala27714=)
c.83061C>G (p.Ala27687=)
c.64824C>G (p.Ala21608=)
c.54678C>G (p.Ala18226=)
2g.178549793G=CA1310520110TTN,TTN-AS1c.84225C= (p.Ala28075=)
c.65310C= (p.Ala21770=)
c.65109C= (p.Ala21703=)
c.64734C= (p.Ala21578=)
c.91929C= (p.Ala30643=)
c.87006C= (p.Ala29002=)
n.447-21507G=
n.2043+7432G=
c.91026C= (p.Ala30342=)
c.64920C= (p.Ala21640=)
c.64779C= (p.Ala21593=)
c.90822C= (p.Ala30274=)
c.86220C= (p.Ala28740=)
c.86217C= (p.Ala28739=)
c.83259C= (p.Ala27753=)
c.64875C= (p.Ala21625=)
c.86370C= (p.Ala28790=)
c.86367C= (p.Ala28789=)
c.85800C= (p.Ala28600=)
c.83142C= (p.Ala27714=)
c.83061C= (p.Ala27687=)
c.64824C= (p.Ala21608=)
c.54678C= (p.Ala18226=)
2g.178549793G>TCA430244821TTN,TTN-AS1c.84225C>A (p.Ala28075=)
c.65310C>A (p.Ala21770=)
c.65109C>A (p.Ala21703=)
c.64734C>A (p.Ala21578=)
c.91929C>A (p.Ala30643=)
c.87006C>A (p.Ala29002=)
n.447-21507G>T
n.2043+7432G>T
c.91026C>A (p.Ala30342=)
c.64920C>A (p.Ala21640=)
c.64779C>A (p.Ala21593=)
c.90822C>A (p.Ala30274=)
c.86220C>A (p.Ala28740=)
c.86217C>A (p.Ala28739=)
c.83259C>A (p.Ala27753=)
c.64875C>A (p.Ala21625=)
c.86370C>A (p.Ala28790=)
c.86367C>A (p.Ala28789=)
c.85800C>A (p.Ala28600=)
c.83142C>A (p.Ala27714=)
c.83061C>A (p.Ala27687=)
c.64824C>A (p.Ala21608=)
c.54678C>A (p.Ala18226=)
2g.178549794G>ACA1987530TTN,TTN-AS1c.84224C>T (p.Ala28075Val)
c.65309C>T (p.Ala21770Val)
c.65108C>T (p.Ala21703Val)
c.64733C>T (p.Ala21578Val)
c.91928C>T (p.Ala30643Val)
c.87005C>T (p.Ala29002Val)
n.447-21506G>A
n.2043+7433G>A
c.91025C>T (p.Ala30342Val)
c.64919C>T (p.Ala21640Val)
c.64778C>T (p.Ala21593Val)
c.90821C>T (p.Ala30274Val)
c.86219C>T (p.Ala28740Val)
c.86216C>T (p.Ala28739Val)
c.83258C>T (p.Ala27753Val)
c.64874C>T (p.Ala21625Val)
c.86369C>T (p.Ala28790Val)
c.86366C>T (p.Ala28789Val)
c.85799C>T (p.Ala28600Val)
c.83141C>T (p.Ala27714Val)
c.83060C>T (p.Ala27687Val)
c.64823C>T (p.Ala21608Val)
c.54677C>T (p.Ala18226Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549794G>CCA349495736TTN,TTN-AS1c.84224C>G (p.Ala28075Gly)
c.65309C>G (p.Ala21770Gly)
c.65108C>G (p.Ala21703Gly)
c.64733C>G (p.Ala21578Gly)
c.91928C>G (p.Ala30643Gly)
c.87005C>G (p.Ala29002Gly)
n.447-21506G>C
n.2043+7433G>C
c.91025C>G (p.Ala30342Gly)
c.64919C>G (p.Ala21640Gly)
c.64778C>G (p.Ala21593Gly)
c.90821C>G (p.Ala30274Gly)
c.86219C>G (p.Ala28740Gly)
c.86216C>G (p.Ala28739Gly)
c.83258C>G (p.Ala27753Gly)
c.64874C>G (p.Ala21625Gly)
c.86369C>G (p.Ala28790Gly)
c.86366C>G (p.Ala28789Gly)
c.85799C>G (p.Ala28600Gly)
c.83141C>G (p.Ala27714Gly)
c.83060C>G (p.Ala27687Gly)
c.64823C>G (p.Ala21608Gly)
c.54677C>G (p.Ala18226Gly)
2g.178549794G=CA1310520111TTN,TTN-AS1c.84224C= (p.Ala28075=)
c.65309C= (p.Ala21770=)
c.65108C= (p.Ala21703=)
c.64733C= (p.Ala21578=)
c.91928C= (p.Ala30643=)
c.87005C= (p.Ala29002=)
n.447-21506G=
n.2043+7433G=
c.91025C= (p.Ala30342=)
c.64919C= (p.Ala21640=)
c.64778C= (p.Ala21593=)
c.90821C= (p.Ala30274=)
c.86219C= (p.Ala28740=)
c.86216C= (p.Ala28739=)
c.83258C= (p.Ala27753=)
c.64874C= (p.Ala21625=)
c.86369C= (p.Ala28790=)
c.86366C= (p.Ala28789=)
c.85799C= (p.Ala28600=)
c.83141C= (p.Ala27714=)
c.83060C= (p.Ala27687=)
c.64823C= (p.Ala21608=)
c.54677C= (p.Ala18226=)
2g.178549794G>TCA349495737TTN,TTN-AS1c.84224C>A (p.Ala28075Asp)
c.65309C>A (p.Ala21770Asp)
c.65108C>A (p.Ala21703Asp)
c.64733C>A (p.Ala21578Asp)
c.91928C>A (p.Ala30643Asp)
c.87005C>A (p.Ala29002Asp)
n.447-21506G>T
n.2043+7433G>T
c.91025C>A (p.Ala30342Asp)
c.64919C>A (p.Ala21640Asp)
c.64778C>A (p.Ala21593Asp)
c.90821C>A (p.Ala30274Asp)
c.86219C>A (p.Ala28740Asp)
c.86216C>A (p.Ala28739Asp)
c.83258C>A (p.Ala27753Asp)
c.64874C>A (p.Ala21625Asp)
c.86369C>A (p.Ala28790Asp)
c.86366C>A (p.Ala28789Asp)
c.85799C>A (p.Ala28600Asp)
c.83141C>A (p.Ala27714Asp)
c.83060C>A (p.Ala27687Asp)
c.64823C>A (p.Ala21608Asp)
c.54677C>A (p.Ala18226Asp)
 gnomAD v4
2g.178549795C>ACA349495738TTN,TTN-AS1c.84223G>T (p.Ala28075Ser)
c.65308G>T (p.Ala21770Ser)
c.65107G>T (p.Ala21703Ser)
c.64732G>T (p.Ala21578Ser)
c.91927G>T (p.Ala30643Ser)
c.87004G>T (p.Ala29002Ser)
n.447-21505C>A
n.2043+7434C>A
c.91024G>T (p.Ala30342Ser)
c.64918G>T (p.Ala21640Ser)
c.64777G>T (p.Ala21593Ser)
c.90820G>T (p.Ala30274Ser)
c.86218G>T (p.Ala28740Ser)
c.86215G>T (p.Ala28739Ser)
c.83257G>T (p.Ala27753Ser)
c.64873G>T (p.Ala21625Ser)
c.86368G>T (p.Ala28790Ser)
c.86365G>T (p.Ala28789Ser)
c.85798G>T (p.Ala28600Ser)
c.83140G>T (p.Ala27714Ser)
c.83059G>T (p.Ala27687Ser)
c.64822G>T (p.Ala21608Ser)
c.54676G>T (p.Ala18226Ser)
2g.178549795C>GCA349495742TTN,TTN-AS1c.84223G>C (p.Ala28075Pro)
c.65308G>C (p.Ala21770Pro)
c.65107G>C (p.Ala21703Pro)
c.64732G>C (p.Ala21578Pro)
c.91927G>C (p.Ala30643Pro)
c.87004G>C (p.Ala29002Pro)
n.447-21505C>G
n.2043+7434C>G
c.91024G>C (p.Ala30342Pro)
c.64918G>C (p.Ala21640Pro)
c.64777G>C (p.Ala21593Pro)
c.90820G>C (p.Ala30274Pro)
c.86218G>C (p.Ala28740Pro)
c.86215G>C (p.Ala28739Pro)
c.83257G>C (p.Ala27753Pro)
c.64873G>C (p.Ala21625Pro)
c.86368G>C (p.Ala28790Pro)
c.86365G>C (p.Ala28789Pro)
c.85798G>C (p.Ala28600Pro)
c.83140G>C (p.Ala27714Pro)
c.83059G>C (p.Ala27687Pro)
c.64822G>C (p.Ala21608Pro)
c.54676G>C (p.Ala18226Pro)
2g.178549795C>TCA349495752TTN,TTN-AS1c.84223G>A (p.Ala28075Thr)
c.65308G>A (p.Ala21770Thr)
c.65107G>A (p.Ala21703Thr)
c.64732G>A (p.Ala21578Thr)
c.91927G>A (p.Ala30643Thr)
c.87004G>A (p.Ala29002Thr)
n.447-21505C>T
n.2043+7434C>T
c.91024G>A (p.Ala30342Thr)
c.64918G>A (p.Ala21640Thr)
c.64777G>A (p.Ala21593Thr)
c.90820G>A (p.Ala30274Thr)
c.86218G>A (p.Ala28740Thr)
c.86215G>A (p.Ala28739Thr)
c.83257G>A (p.Ala27753Thr)
c.64873G>A (p.Ala21625Thr)
c.86368G>A (p.Ala28790Thr)
c.86365G>A (p.Ala28789Thr)
c.85798G>A (p.Ala28600Thr)
c.83140G>A (p.Ala27714Thr)
c.83059G>A (p.Ala27687Thr)
c.64822G>A (p.Ala21608Thr)
c.54676G>A (p.Ala18226Thr)
2g.178549796A>CCA349495763TTN,TTN-AS1c.84222T>G (p.Asp28074Glu)
c.65307T>G (p.Asp21769Glu)
c.65106T>G (p.Asp21702Glu)
c.64731T>G (p.Asp21577Glu)
c.91926T>G (p.Asp30642Glu)
c.87003T>G (p.Asp29001Glu)
n.447-21504A>C
n.2043+7435A>C
c.91023T>G (p.Asp30341Glu)
c.64917T>G (p.Asp21639Glu)
c.64776T>G (p.Asp21592Glu)
c.90819T>G (p.Asp30273Glu)
c.86217T>G (p.Asp28739Glu)
c.86214T>G (p.Asp28738Glu)
c.83256T>G (p.Asp27752Glu)
c.64872T>G (p.Asp21624Glu)
c.86367T>G (p.Asp28789Glu)
c.86364T>G (p.Asp28788Glu)
c.85797T>G (p.Asp28599Glu)
c.83139T>G (p.Asp27713Glu)
c.83058T>G (p.Asp27686Glu)
c.64821T>G (p.Asp21607Glu)
c.54675T>G (p.Asp18225Glu)
2g.178549796A>GCA430244827TTN,TTN-AS1c.84222T>C (p.Asp28074=)
c.65307T>C (p.Asp21769=)
c.65106T>C (p.Asp21702=)
c.64731T>C (p.Asp21577=)
c.91926T>C (p.Asp30642=)
c.87003T>C (p.Asp29001=)
n.447-21504A>G
n.2043+7435A>G
c.91023T>C (p.Asp30341=)
c.64917T>C (p.Asp21639=)
c.64776T>C (p.Asp21592=)
c.90819T>C (p.Asp30273=)
c.86217T>C (p.Asp28739=)
c.86214T>C (p.Asp28738=)
c.83256T>C (p.Asp27752=)
c.64872T>C (p.Asp21624=)
c.86367T>C (p.Asp28789=)
c.86364T>C (p.Asp28788=)
c.85797T>C (p.Asp28599=)
c.83139T>C (p.Asp27713=)
c.83058T>C (p.Asp27686=)
c.64821T>C (p.Asp21607=)
c.54675T>C (p.Asp18225=)
 gnomAD v4
2g.178549796A>TCA349495755TTN,TTN-AS1c.84222T>A (p.Asp28074Glu)
c.65307T>A (p.Asp21769Glu)
c.65106T>A (p.Asp21702Glu)
c.64731T>A (p.Asp21577Glu)
c.91926T>A (p.Asp30642Glu)
c.87003T>A (p.Asp29001Glu)
n.447-21504A>T
n.2043+7435A>T
c.91023T>A (p.Asp30341Glu)
c.64917T>A (p.Asp21639Glu)
c.64776T>A (p.Asp21592Glu)
c.90819T>A (p.Asp30273Glu)
c.86217T>A (p.Asp28739Glu)
c.86214T>A (p.Asp28738Glu)
c.83256T>A (p.Asp27752Glu)
c.64872T>A (p.Asp21624Glu)
c.86367T>A (p.Asp28789Glu)
c.86364T>A (p.Asp28788Glu)
c.85797T>A (p.Asp28599Glu)
c.83139T>A (p.Asp27713Glu)
c.83058T>A (p.Asp27686Glu)
c.64821T>A (p.Asp21607Glu)
c.54675T>A (p.Asp18225Glu)
2g.178549797T>ACA349495766TTN,TTN-AS1c.84221A>T (p.Asp28074Val)
c.65306A>T (p.Asp21769Val)
c.65105A>T (p.Asp21702Val)
c.64730A>T (p.Asp21577Val)
c.91925A>T (p.Asp30642Val)
c.87002A>T (p.Asp29001Val)
n.447-21503T>A
n.2043+7436T>A
c.91022A>T (p.Asp30341Val)
c.64916A>T (p.Asp21639Val)
c.64775A>T (p.Asp21592Val)
c.90818A>T (p.Asp30273Val)
c.86216A>T (p.Asp28739Val)
c.86213A>T (p.Asp28738Val)
c.83255A>T (p.Asp27752Val)
c.64871A>T (p.Asp21624Val)
c.86366A>T (p.Asp28789Val)
c.86363A>T (p.Asp28788Val)
c.85796A>T (p.Asp28599Val)
c.83138A>T (p.Asp27713Val)
c.83057A>T (p.Asp27686Val)
c.64820A>T (p.Asp21607Val)
c.54674A>T (p.Asp18225Val)
2g.178549797T>CCA349495770TTN,TTN-AS1c.84221A>G (p.Asp28074Gly)
c.65306A>G (p.Asp21769Gly)
c.65105A>G (p.Asp21702Gly)
c.64730A>G (p.Asp21577Gly)
c.91925A>G (p.Asp30642Gly)
c.87002A>G (p.Asp29001Gly)
n.447-21503T>C
n.2043+7436T>C
c.91022A>G (p.Asp30341Gly)
c.64916A>G (p.Asp21639Gly)
c.64775A>G (p.Asp21592Gly)
c.90818A>G (p.Asp30273Gly)
c.86216A>G (p.Asp28739Gly)
c.86213A>G (p.Asp28738Gly)
c.83255A>G (p.Asp27752Gly)
c.64871A>G (p.Asp21624Gly)
c.86366A>G (p.Asp28789Gly)
c.86363A>G (p.Asp28788Gly)
c.85796A>G (p.Asp28599Gly)
c.83138A>G (p.Asp27713Gly)
c.83057A>G (p.Asp27686Gly)
c.64820A>G (p.Asp21607Gly)
c.54674A>G (p.Asp18225Gly)
2g.178549797T>GCA349495774TTN,TTN-AS1c.84221A>C (p.Asp28074Ala)
c.65306A>C (p.Asp21769Ala)
c.65105A>C (p.Asp21702Ala)
c.64730A>C (p.Asp21577Ala)
c.91925A>C (p.Asp30642Ala)
c.87002A>C (p.Asp29001Ala)
n.447-21503T>G
n.2043+7436T>G
c.91022A>C (p.Asp30341Ala)
c.64916A>C (p.Asp21639Ala)
c.64775A>C (p.Asp21592Ala)
c.90818A>C (p.Asp30273Ala)
c.86216A>C (p.Asp28739Ala)
c.86213A>C (p.Asp28738Ala)
c.83255A>C (p.Asp27752Ala)
c.64871A>C (p.Asp21624Ala)
c.86366A>C (p.Asp28789Ala)
c.86363A>C (p.Asp28788Ala)
c.85796A>C (p.Asp28599Ala)
c.83138A>C (p.Asp27713Ala)
c.83057A>C (p.Asp27686Ala)
c.64820A>C (p.Asp21607Ala)
c.54674A>C (p.Asp18225Ala)
2g.178549798C>ACA349495777TTN,TTN-AS1c.84220G>T (p.Asp28074Tyr)
c.65305G>T (p.Asp21769Tyr)
c.65104G>T (p.Asp21702Tyr)
c.64729G>T (p.Asp21577Tyr)
c.91924G>T (p.Asp30642Tyr)
c.87001G>T (p.Asp29001Tyr)
n.447-21502C>A
n.2043+7437C>A
c.91021G>T (p.Asp30341Tyr)
c.64915G>T (p.Asp21639Tyr)
c.64774G>T (p.Asp21592Tyr)
c.90817G>T (p.Asp30273Tyr)
c.86215G>T (p.Asp28739Tyr)
c.86212G>T (p.Asp28738Tyr)
c.83254G>T (p.Asp27752Tyr)
c.64870G>T (p.Asp21624Tyr)
c.86365G>T (p.Asp28789Tyr)
c.86362G>T (p.Asp28788Tyr)
c.85795G>T (p.Asp28599Tyr)
c.83137G>T (p.Asp27713Tyr)
c.83056G>T (p.Asp27686Tyr)
c.64819G>T (p.Asp21607Tyr)
c.54673G>T (p.Asp18225Tyr)
2g.178549798C>GCA349495779TTN,TTN-AS1c.84220G>C (p.Asp28074His)
c.65305G>C (p.Asp21769His)
c.65104G>C (p.Asp21702His)
c.64729G>C (p.Asp21577His)
c.91924G>C (p.Asp30642His)
c.87001G>C (p.Asp29001His)
n.447-21502C>G
n.2043+7437C>G
c.91021G>C (p.Asp30341His)
c.64915G>C (p.Asp21639His)
c.64774G>C (p.Asp21592His)
c.90817G>C (p.Asp30273His)
c.86215G>C (p.Asp28739His)
c.86212G>C (p.Asp28738His)
c.83254G>C (p.Asp27752His)
c.64870G>C (p.Asp21624His)
c.86365G>C (p.Asp28789His)
c.86362G>C (p.Asp28788His)
c.85795G>C (p.Asp28599His)
c.83137G>C (p.Asp27713His)
c.83056G>C (p.Asp27686His)
c.64819G>C (p.Asp21607His)
c.54673G>C (p.Asp18225His)
 ClinVar
2g.178549798C>TCA349495785TTN,TTN-AS1c.84220G>A (p.Asp28074Asn)
c.65305G>A (p.Asp21769Asn)
c.65104G>A (p.Asp21702Asn)
c.64729G>A (p.Asp21577Asn)
c.91924G>A (p.Asp30642Asn)
c.87001G>A (p.Asp29001Asn)
n.447-21502C>T
n.2043+7437C>T
c.91021G>A (p.Asp30341Asn)
c.64915G>A (p.Asp21639Asn)
c.64774G>A (p.Asp21592Asn)
c.90817G>A (p.Asp30273Asn)
c.86215G>A (p.Asp28739Asn)
c.86212G>A (p.Asp28738Asn)
c.83254G>A (p.Asp27752Asn)
c.64870G>A (p.Asp21624Asn)
c.86365G>A (p.Asp28789Asn)
c.86362G>A (p.Asp28788Asn)
c.85795G>A (p.Asp28599Asn)
c.83137G>A (p.Asp27713Asn)
c.83056G>A (p.Asp27686Asn)
c.64819G>A (p.Asp21607Asn)
c.54673G>A (p.Asp18225Asn)
2g.178549799C>ACA349495798TTN,TTN-AS1c.84219G>T (p.Trp28073Cys)
c.65304G>T (p.Trp21768Cys)
c.65103G>T (p.Trp21701Cys)
c.64728G>T (p.Trp21576Cys)
c.91923G>T (p.Trp30641Cys)
c.87000G>T (p.Trp29000Cys)
n.447-21501C>A
n.2043+7438C>A
c.91020G>T (p.Trp30340Cys)
c.64914G>T (p.Trp21638Cys)
c.64773G>T (p.Trp21591Cys)
c.90816G>T (p.Trp30272Cys)
c.86214G>T (p.Trp28738Cys)
c.86211G>T (p.Trp28737Cys)
c.83253G>T (p.Trp27751Cys)
c.64869G>T (p.Trp21623Cys)
c.86364G>T (p.Trp28788Cys)
c.86361G>T (p.Trp28787Cys)
c.85794G>T (p.Trp28598Cys)
c.83136G>T (p.Trp27712Cys)
c.83055G>T (p.Trp27685Cys)
c.64818G>T (p.Trp21606Cys)
c.54672G>T (p.Trp18224Cys)
2g.178549799C>GCA349495791TTN,TTN-AS1c.84219G>C (p.Trp28073Cys)
c.65304G>C (p.Trp21768Cys)
c.65103G>C (p.Trp21701Cys)
c.64728G>C (p.Trp21576Cys)
c.91923G>C (p.Trp30641Cys)
c.87000G>C (p.Trp29000Cys)
n.447-21501C>G
n.2043+7438C>G
c.91020G>C (p.Trp30340Cys)
c.64914G>C (p.Trp21638Cys)
c.64773G>C (p.Trp21591Cys)
c.90816G>C (p.Trp30272Cys)
c.86214G>C (p.Trp28738Cys)
c.86211G>C (p.Trp28737Cys)
c.83253G>C (p.Trp27751Cys)
c.64869G>C (p.Trp21623Cys)
c.86364G>C (p.Trp28788Cys)
c.86361G>C (p.Trp28787Cys)
c.85794G>C (p.Trp28598Cys)
c.83136G>C (p.Trp27712Cys)
c.83055G>C (p.Trp27685Cys)
c.64818G>C (p.Trp21606Cys)
c.54672G>C (p.Trp18224Cys)
2g.178549799C>TCA349495790TTN,TTN-AS1c.84219G>A (p.Trp28073Ter)
c.65304G>A (p.Trp21768Ter)
c.65103G>A (p.Trp21701Ter)
c.64728G>A (p.Trp21576Ter)
c.91923G>A (p.Trp30641Ter)
c.87000G>A (p.Trp29000Ter)
n.447-21501C>T
n.2043+7438C>T
c.91020G>A (p.Trp30340Ter)
c.64914G>A (p.Trp21638Ter)
c.64773G>A (p.Trp21591Ter)
c.90816G>A (p.Trp30272Ter)
c.86214G>A (p.Trp28738Ter)
c.86211G>A (p.Trp28737Ter)
c.83253G>A (p.Trp27751Ter)
c.64869G>A (p.Trp21623Ter)
c.86364G>A (p.Trp28788Ter)
c.86361G>A (p.Trp28787Ter)
c.85794G>A (p.Trp28598Ter)
c.83136G>A (p.Trp27712Ter)
c.83055G>A (p.Trp27685Ter)
c.64818G>A (p.Trp21606Ter)
c.54672G>A (p.Trp18224Ter)
2g.178549800C>ACA349495813TTN,TTN-AS1c.84218G>T (p.Trp28073Leu)
c.65303G>T (p.Trp21768Leu)
c.65102G>T (p.Trp21701Leu)
c.64727G>T (p.Trp21576Leu)
c.91922G>T (p.Trp30641Leu)
c.86999G>T (p.Trp29000Leu)
n.447-21500C>A
n.2043+7439C>A
c.91019G>T (p.Trp30340Leu)
c.64913G>T (p.Trp21638Leu)
c.64772G>T (p.Trp21591Leu)
c.90815G>T (p.Trp30272Leu)
c.86213G>T (p.Trp28738Leu)
c.86210G>T (p.Trp28737Leu)
c.83252G>T (p.Trp27751Leu)
c.64868G>T (p.Trp21623Leu)
c.86363G>T (p.Trp28788Leu)
c.86360G>T (p.Trp28787Leu)
c.85793G>T (p.Trp28598Leu)
c.83135G>T (p.Trp27712Leu)
c.83054G>T (p.Trp27685Leu)
c.64817G>T (p.Trp21606Leu)
c.54671G>T (p.Trp18224Leu)
 gnomAD v4
2g.178549800C>GCA349495816TTN,TTN-AS1c.84218G>C (p.Trp28073Ser)
c.65303G>C (p.Trp21768Ser)
c.65102G>C (p.Trp21701Ser)
c.64727G>C (p.Trp21576Ser)
c.91922G>C (p.Trp30641Ser)
c.86999G>C (p.Trp29000Ser)
n.447-21500C>G
n.2043+7439C>G
c.91019G>C (p.Trp30340Ser)
c.64913G>C (p.Trp21638Ser)
c.64772G>C (p.Trp21591Ser)
c.90815G>C (p.Trp30272Ser)
c.86213G>C (p.Trp28738Ser)
c.86210G>C (p.Trp28737Ser)
c.83252G>C (p.Trp27751Ser)
c.64868G>C (p.Trp21623Ser)
c.86363G>C (p.Trp28788Ser)
c.86360G>C (p.Trp28787Ser)
c.85793G>C (p.Trp28598Ser)
c.83135G>C (p.Trp27712Ser)
c.83054G>C (p.Trp27685Ser)
c.64817G>C (p.Trp21606Ser)
c.54671G>C (p.Trp18224Ser)
2g.178549800C>TCA349495830TTN,TTN-AS1c.84218G>A (p.Trp28073Ter)
c.65303G>A (p.Trp21768Ter)
c.65102G>A (p.Trp21701Ter)
c.64727G>A (p.Trp21576Ter)
c.91922G>A (p.Trp30641Ter)
c.86999G>A (p.Trp29000Ter)
n.447-21500C>T
n.2043+7439C>T
c.91019G>A (p.Trp30340Ter)
c.64913G>A (p.Trp21638Ter)
c.64772G>A (p.Trp21591Ter)
c.90815G>A (p.Trp30272Ter)
c.86213G>A (p.Trp28738Ter)
c.86210G>A (p.Trp28737Ter)
c.83252G>A (p.Trp27751Ter)
c.64868G>A (p.Trp21623Ter)
c.86363G>A (p.Trp28788Ter)
c.86360G>A (p.Trp28787Ter)
c.85793G>A (p.Trp28598Ter)
c.83135G>A (p.Trp27712Ter)
c.83054G>A (p.Trp27685Ter)
c.64817G>A (p.Trp21606Ter)
c.54671G>A (p.Trp18224Ter)
2g.178549801A>CCA349495840TTN,TTN-AS1c.84217T>G (p.Trp28073Gly)
c.65302T>G (p.Trp21768Gly)
c.65101T>G (p.Trp21701Gly)
c.64726T>G (p.Trp21576Gly)
c.91921T>G (p.Trp30641Gly)
c.86998T>G (p.Trp29000Gly)
n.447-21499A>C
n.2043+7440A>C
c.91018T>G (p.Trp30340Gly)
c.64912T>G (p.Trp21638Gly)
c.64771T>G (p.Trp21591Gly)
c.90814T>G (p.Trp30272Gly)
c.86212T>G (p.Trp28738Gly)
c.86209T>G (p.Trp28737Gly)
c.83251T>G (p.Trp27751Gly)
c.64867T>G (p.Trp21623Gly)
c.86362T>G (p.Trp28788Gly)
c.86359T>G (p.Trp28787Gly)
c.85792T>G (p.Trp28598Gly)
c.83134T>G (p.Trp27712Gly)
c.83053T>G (p.Trp27685Gly)
c.64816T>G (p.Trp21606Gly)
c.54670T>G (p.Trp18224Gly)
2g.178549801A>GCA349495848TTN,TTN-AS1c.84217T>C (p.Trp28073Arg)
c.65302T>C (p.Trp21768Arg)
c.65101T>C (p.Trp21701Arg)
c.64726T>C (p.Trp21576Arg)
c.91921T>C (p.Trp30641Arg)
c.86998T>C (p.Trp29000Arg)
n.447-21499A>G
n.2043+7440A>G
c.91018T>C (p.Trp30340Arg)
c.64912T>C (p.Trp21638Arg)
c.64771T>C (p.Trp21591Arg)
c.90814T>C (p.Trp30272Arg)
c.86212T>C (p.Trp28738Arg)
c.86209T>C (p.Trp28737Arg)
c.83251T>C (p.Trp27751Arg)
c.64867T>C (p.Trp21623Arg)
c.86362T>C (p.Trp28788Arg)
c.86359T>C (p.Trp28787Arg)
c.85792T>C (p.Trp28598Arg)
c.83134T>C (p.Trp27712Arg)
c.83053T>C (p.Trp27685Arg)
c.64816T>C (p.Trp21606Arg)
c.54670T>C (p.Trp18224Arg)
2g.178549801A>TCA349495849TTN,TTN-AS1c.84217T>A (p.Trp28073Arg)
c.65302T>A (p.Trp21768Arg)
c.65101T>A (p.Trp21701Arg)
c.64726T>A (p.Trp21576Arg)
c.91921T>A (p.Trp30641Arg)
c.86998T>A (p.Trp29000Arg)
n.447-21499A>T
n.2043+7440A>T
c.91018T>A (p.Trp30340Arg)
c.64912T>A (p.Trp21638Arg)
c.64771T>A (p.Trp21591Arg)
c.90814T>A (p.Trp30272Arg)
c.86212T>A (p.Trp28738Arg)
c.86209T>A (p.Trp28737Arg)
c.83251T>A (p.Trp27751Arg)
c.64867T>A (p.Trp21623Arg)
c.86362T>A (p.Trp28788Arg)
c.86359T>A (p.Trp28787Arg)
c.85792T>A (p.Trp28598Arg)
c.83134T>A (p.Trp27712Arg)
c.83053T>A (p.Trp27685Arg)
c.64816T>A (p.Trp21606Arg)
c.54670T>A (p.Trp18224Arg)
2g.178549802C>ACA349495851TTN,TTN-AS1c.84216G>T (p.Trp28072Cys)
c.65301G>T (p.Trp21767Cys)
c.65100G>T (p.Trp21700Cys)
c.64725G>T (p.Trp21575Cys)
c.91920G>T (p.Trp30640Cys)
c.86997G>T (p.Trp28999Cys)
n.447-21498C>A
n.2043+7441C>A
c.91017G>T (p.Trp30339Cys)
c.64911G>T (p.Trp21637Cys)
c.64770G>T (p.Trp21590Cys)
c.90813G>T (p.Trp30271Cys)
c.86211G>T (p.Trp28737Cys)
c.86208G>T (p.Trp28736Cys)
c.83250G>T (p.Trp27750Cys)
c.64866G>T (p.Trp21622Cys)
c.86361G>T (p.Trp28787Cys)
c.86358G>T (p.Trp28786Cys)
c.85791G>T (p.Trp28597Cys)
c.83133G>T (p.Trp27711Cys)
c.83052G>T (p.Trp27684Cys)
c.64815G>T (p.Trp21605Cys)
c.54669G>T (p.Trp18223Cys)
2g.178549802C=CA1310520113TTN,TTN-AS1c.84216G= (p.Trp28072=)
c.65301G= (p.Trp21767=)
c.65100G= (p.Trp21700=)
c.64725G= (p.Trp21575=)
c.91920G= (p.Trp30640=)
c.86997G= (p.Trp28999=)
n.447-21498C=
n.2043+7441C=
c.91017G= (p.Trp30339=)
c.64911G= (p.Trp21637=)
c.64770G= (p.Trp21590=)
c.90813G= (p.Trp30271=)
c.86211G= (p.Trp28737=)
c.86208G= (p.Trp28736=)
c.83250G= (p.Trp27750=)
c.64866G= (p.Trp21622=)
c.86361G= (p.Trp28787=)
c.86358G= (p.Trp28786=)
c.85791G= (p.Trp28597=)
c.83133G= (p.Trp27711=)
c.83052G= (p.Trp27684=)
c.64815G= (p.Trp21605=)
c.54669G= (p.Trp18223=)
2g.178549802C>GCA349495869TTN,TTN-AS1c.84216G>C (p.Trp28072Cys)
c.65301G>C (p.Trp21767Cys)
c.65100G>C (p.Trp21700Cys)
c.64725G>C (p.Trp21575Cys)
c.91920G>C (p.Trp30640Cys)
c.86997G>C (p.Trp28999Cys)
n.447-21498C>G
n.2043+7441C>G
c.91017G>C (p.Trp30339Cys)
c.64911G>C (p.Trp21637Cys)
c.64770G>C (p.Trp21590Cys)
c.90813G>C (p.Trp30271Cys)
c.86211G>C (p.Trp28737Cys)
c.86208G>C (p.Trp28736Cys)
c.83250G>C (p.Trp27750Cys)
c.64866G>C (p.Trp21622Cys)
c.86361G>C (p.Trp28787Cys)
c.86358G>C (p.Trp28786Cys)
c.85791G>C (p.Trp28597Cys)
c.83133G>C (p.Trp27711Cys)
c.83052G>C (p.Trp27684Cys)
c.64815G>C (p.Trp21605Cys)
c.54669G>C (p.Trp18223Cys)
2g.178549802C>TCA349495863TTN,TTN-AS1c.84216G>A (p.Trp28072Ter)
c.65301G>A (p.Trp21767Ter)
c.65100G>A (p.Trp21700Ter)
c.64725G>A (p.Trp21575Ter)
c.91920G>A (p.Trp30640Ter)
c.86997G>A (p.Trp28999Ter)
n.447-21498C>T
n.2043+7441C>T
c.91017G>A (p.Trp30339Ter)
c.64911G>A (p.Trp21637Ter)
c.64770G>A (p.Trp21590Ter)
c.90813G>A (p.Trp30271Ter)
c.86211G>A (p.Trp28737Ter)
c.86208G>A (p.Trp28736Ter)
c.83250G>A (p.Trp27750Ter)
c.64866G>A (p.Trp21622Ter)
c.86361G>A (p.Trp28787Ter)
c.86358G>A (p.Trp28786Ter)
c.85791G>A (p.Trp28597Ter)
c.83133G>A (p.Trp27711Ter)
c.83052G>A (p.Trp27684Ter)
c.64815G>A (p.Trp21605Ter)
c.54669G>A (p.Trp18223Ter)
 ClinVar dbSNP
2g.178549802_178549804delinsCCACA1310520112TTN,TTN-AS1c.84214_84216delinsTGG (p.Trp28072=)
c.65299_65301delinsTGG (p.Trp21767=)
c.65098_65100delinsTGG (p.Trp21700=)
c.64723_64725delinsTGG (p.Trp21575=)
c.91918_91920delinsTGG (p.Trp30640=)
c.86995_86997delinsTGG (p.Trp28999=)
n.447-21498_447-21496delinsCCA
n.2043+7441_2043+7443delinsCCA
c.91015_91017delinsTGG (p.Trp30339=)
c.64909_64911delinsTGG (p.Trp21637=)
c.64768_64770delinsTGG (p.Trp21590=)
c.90811_90813delinsTGG (p.Trp30271=)
c.86209_86211delinsTGG (p.Trp28737=)
c.86206_86208delinsTGG (p.Trp28736=)
c.83248_83250delinsTGG (p.Trp27750=)
c.64864_64866delinsTGG (p.Trp21622=)
c.86359_86361delinsTGG (p.Trp28787=)
c.86356_86358delinsTGG (p.Trp28786=)
c.85789_85791delinsTGG (p.Trp28597=)
c.83131_83133delinsTGG (p.Trp27711=)
c.83050_83052delinsTGG (p.Trp27684=)
c.64813_64815delinsTGG (p.Trp21605=)
c.54667_54669delinsTGG (p.Trp18223=)
2g.178549803C>ACA349495870TTN,TTN-AS1c.84215G>T (p.Trp28072Leu)
c.65300G>T (p.Trp21767Leu)
c.65099G>T (p.Trp21700Leu)
c.64724G>T (p.Trp21575Leu)
c.91919G>T (p.Trp30640Leu)
c.86996G>T (p.Trp28999Leu)
n.447-21497C>A
n.2043+7442C>A
c.91016G>T (p.Trp30339Leu)
c.64910G>T (p.Trp21637Leu)
c.64769G>T (p.Trp21590Leu)
c.90812G>T (p.Trp30271Leu)
c.86210G>T (p.Trp28737Leu)
c.86207G>T (p.Trp28736Leu)
c.83249G>T (p.Trp27750Leu)
c.64865G>T (p.Trp21622Leu)
c.86360G>T (p.Trp28787Leu)
c.86357G>T (p.Trp28786Leu)
c.85790G>T (p.Trp28597Leu)
c.83132G>T (p.Trp27711Leu)
c.83051G>T (p.Trp27684Leu)
c.64814G>T (p.Trp21605Leu)
c.54668G>T (p.Trp18223Leu)
2g.178549803C>GCA349495871TTN,TTN-AS1c.84215G>C (p.Trp28072Ser)
c.65300G>C (p.Trp21767Ser)
c.65099G>C (p.Trp21700Ser)
c.64724G>C (p.Trp21575Ser)
c.91919G>C (p.Trp30640Ser)
c.86996G>C (p.Trp28999Ser)
n.447-21497C>G
n.2043+7442C>G
c.91016G>C (p.Trp30339Ser)
c.64910G>C (p.Trp21637Ser)
c.64769G>C (p.Trp21590Ser)
c.90812G>C (p.Trp30271Ser)
c.86210G>C (p.Trp28737Ser)
c.86207G>C (p.Trp28736Ser)
c.83249G>C (p.Trp27750Ser)
c.64865G>C (p.Trp21622Ser)
c.86360G>C (p.Trp28787Ser)
c.86357G>C (p.Trp28786Ser)
c.85790G>C (p.Trp28597Ser)
c.83132G>C (p.Trp27711Ser)
c.83051G>C (p.Trp27684Ser)
c.64814G>C (p.Trp21605Ser)
c.54668G>C (p.Trp18223Ser)
 gnomAD v4
2g.178549803C>TCA349495872TTN,TTN-AS1c.84215G>A (p.Trp28072Ter)
c.65300G>A (p.Trp21767Ter)
c.65099G>A (p.Trp21700Ter)
c.64724G>A (p.Trp21575Ter)
c.91919G>A (p.Trp30640Ter)
c.86996G>A (p.Trp28999Ter)
n.447-21497C>T
n.2043+7442C>T
c.91016G>A (p.Trp30339Ter)
c.64910G>A (p.Trp21637Ter)
c.64769G>A (p.Trp21590Ter)
c.90812G>A (p.Trp30271Ter)
c.86210G>A (p.Trp28737Ter)
c.86207G>A (p.Trp28736Ter)
c.83249G>A (p.Trp27750Ter)
c.64865G>A (p.Trp21622Ter)
c.86360G>A (p.Trp28787Ter)
c.86357G>A (p.Trp28786Ter)
c.85790G>A (p.Trp28597Ter)
c.83132G>A (p.Trp27711Ter)
c.83051G>A (p.Trp27684Ter)
c.64814G>A (p.Trp21605Ter)
c.54668G>A (p.Trp18223Ter)
2g.178549805_178549806delCA538435184TTN,TTN-AS1c.84214_84215del (p.Trp28072ValfsTer7)
c.65299_65300del (p.Trp21767ValfsTer7)
c.65098_65099del (p.Trp21700ValfsTer7)
c.64723_64724del (p.Trp21575ValfsTer7)
c.91918_91919del (p.Trp30640ValfsTer7)
c.86995_86996del (p.Trp28999ValfsTer7)
n.447-21495_447-21494del
n.2043+7444_2043+7445del
c.91015_91016del (p.Trp30339ValfsTer7)
c.64909_64910del (p.Trp21637ValfsTer7)
c.64768_64769del (p.Trp21590ValfsTer7)
c.90811_90812del (p.Trp30271ValfsTer7)
c.86209_86210del (p.Trp28737ValfsTer7)
c.86206_86207del (p.Trp28736ValfsTer7)
c.83248_83249del (p.Trp27750ValfsTer7)
c.64864_64865del (p.Trp21622ValfsTer7)
c.86359_86360del (p.Trp28787ValfsTer7)
c.86356_86357del (p.Trp28786ValfsTer7)
c.85789_85790del (p.Trp28597ValfsTer7)
c.83131_83132del (p.Trp27711ValfsTer7)
c.83050_83051del (p.Trp27684ValfsTer7)
c.64813_64814del (p.Trp21605ValfsTer7)
c.54667_54668del (p.Trp18223ValfsTer7)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178549804A=CA1310520114TTN,TTN-AS1c.84214T= (p.Trp28072=)
c.65299T= (p.Trp21767=)
c.65098T= (p.Trp21700=)
c.64723T= (p.Trp21575=)
c.91918T= (p.Trp30640=)
c.86995T= (p.Trp28999=)
n.447-21496A=
n.2043+7443A=
c.91015T= (p.Trp30339=)
c.64909T= (p.Trp21637=)
c.64768T= (p.Trp21590=)
c.90811T= (p.Trp30271=)
c.86209T= (p.Trp28737=)
c.86206T= (p.Trp28736=)
c.83248T= (p.Trp27750=)
c.64864T= (p.Trp21622=)
c.86359T= (p.Trp28787=)
c.86356T= (p.Trp28786=)
c.85789T= (p.Trp28597=)
c.83131T= (p.Trp27711=)
c.83050T= (p.Trp27684=)
c.64813T= (p.Trp21605=)
c.54667T= (p.Trp18223=)
2g.178549804A>CCA349495875TTN,TTN-AS1c.84214T>G (p.Trp28072Gly)
c.65299T>G (p.Trp21767Gly)
c.65098T>G (p.Trp21700Gly)
c.64723T>G (p.Trp21575Gly)
c.91918T>G (p.Trp30640Gly)
c.86995T>G (p.Trp28999Gly)
n.447-21496A>C
n.2043+7443A>C
c.91015T>G (p.Trp30339Gly)
c.64909T>G (p.Trp21637Gly)
c.64768T>G (p.Trp21590Gly)
c.90811T>G (p.Trp30271Gly)
c.86209T>G (p.Trp28737Gly)
c.86206T>G (p.Trp28736Gly)
c.83248T>G (p.Trp27750Gly)
c.64864T>G (p.Trp21622Gly)
c.86359T>G (p.Trp28787Gly)
c.86356T>G (p.Trp28786Gly)
c.85789T>G (p.Trp28597Gly)
c.83131T>G (p.Trp27711Gly)
c.83050T>G (p.Trp27684Gly)
c.64813T>G (p.Trp21605Gly)
c.54667T>G (p.Trp18223Gly)
 dbSNP
2g.178549804A>GCA349495878TTN,TTN-AS1c.84214T>C (p.Trp28072Arg)
c.65299T>C (p.Trp21767Arg)
c.65098T>C (p.Trp21700Arg)
c.64723T>C (p.Trp21575Arg)
c.91918T>C (p.Trp30640Arg)
c.86995T>C (p.Trp28999Arg)
n.447-21496A>G
n.2043+7443A>G
c.91015T>C (p.Trp30339Arg)
c.64909T>C (p.Trp21637Arg)
c.64768T>C (p.Trp21590Arg)
c.90811T>C (p.Trp30271Arg)
c.86209T>C (p.Trp28737Arg)
c.86206T>C (p.Trp28736Arg)
c.83248T>C (p.Trp27750Arg)
c.64864T>C (p.Trp21622Arg)
c.86359T>C (p.Trp28787Arg)
c.86356T>C (p.Trp28786Arg)
c.85789T>C (p.Trp28597Arg)
c.83131T>C (p.Trp27711Arg)
c.83050T>C (p.Trp27684Arg)
c.64813T>C (p.Trp21605Arg)
c.54667T>C (p.Trp18223Arg)
2g.178549804A>TCA349495882TTN,TTN-AS1c.84214T>A (p.Trp28072Arg)
c.65299T>A (p.Trp21767Arg)
c.65098T>A (p.Trp21700Arg)
c.64723T>A (p.Trp21575Arg)
c.91918T>A (p.Trp30640Arg)
c.86995T>A (p.Trp28999Arg)
n.447-21496A>T
n.2043+7443A>T
c.91015T>A (p.Trp30339Arg)
c.64909T>A (p.Trp21637Arg)
c.64768T>A (p.Trp21590Arg)
c.90811T>A (p.Trp30271Arg)
c.86209T>A (p.Trp28737Arg)
c.86206T>A (p.Trp28736Arg)
c.83248T>A (p.Trp27750Arg)
c.64864T>A (p.Trp21622Arg)
c.86359T>A (p.Trp28787Arg)
c.86356T>A (p.Trp28786Arg)
c.85789T>A (p.Trp28597Arg)
c.83131T>A (p.Trp27711Arg)
c.83050T>A (p.Trp27684Arg)
c.64813T>A (p.Trp21605Arg)
c.54667T>A (p.Trp18223Arg)
2g.178549805C>ACA1987531TTN,TTN-AS1c.84213G>T (p.Leu28071=)
c.65298G>T (p.Leu21766=)
c.65097G>T (p.Leu21699=)
c.64722G>T (p.Leu21574=)
c.91917G>T (p.Leu30639=)
c.86994G>T (p.Leu28998=)
n.447-21495C>A
n.2043+7444C>A
c.91014G>T (p.Leu30338=)
c.64908G>T (p.Leu21636=)
c.64767G>T (p.Leu21589=)
c.90810G>T (p.Leu30270=)
c.86208G>T (p.Leu28736=)
c.86205G>T (p.Leu28735=)
c.83247G>T (p.Leu27749=)
c.64863G>T (p.Leu21621=)
c.86358G>T (p.Leu28786=)
c.86355G>T (p.Leu28785=)
c.85788G>T (p.Leu28596=)
c.83130G>T (p.Leu27710=)
c.83049G>T (p.Leu27683=)
c.64812G>T (p.Leu21604=)
c.54666G>T (p.Leu18222=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549805C=CA1310520115TTN,TTN-AS1c.84213G= (p.Leu28071=)
c.65298G= (p.Leu21766=)
c.65097G= (p.Leu21699=)
c.64722G= (p.Leu21574=)
c.91917G= (p.Leu30639=)
c.86994G= (p.Leu28998=)
n.447-21495C=
n.2043+7444C=
c.91014G= (p.Leu30338=)
c.64908G= (p.Leu21636=)
c.64767G= (p.Leu21589=)
c.90810G= (p.Leu30270=)
c.86208G= (p.Leu28736=)
c.86205G= (p.Leu28735=)
c.83247G= (p.Leu27749=)
c.64863G= (p.Leu21621=)
c.86358G= (p.Leu28786=)
c.86355G= (p.Leu28785=)
c.85788G= (p.Leu28596=)
c.83130G= (p.Leu27710=)
c.83049G= (p.Leu27683=)
c.64812G= (p.Leu21604=)
c.54666G= (p.Leu18222=)
2g.178549805C>GCA430244832TTN,TTN-AS1c.84213G>C (p.Leu28071=)
c.65298G>C (p.Leu21766=)
c.65097G>C (p.Leu21699=)
c.64722G>C (p.Leu21574=)
c.91917G>C (p.Leu30639=)
c.86994G>C (p.Leu28998=)
n.447-21495C>G
n.2043+7444C>G
c.91014G>C (p.Leu30338=)
c.64908G>C (p.Leu21636=)
c.64767G>C (p.Leu21589=)
c.90810G>C (p.Leu30270=)
c.86208G>C (p.Leu28736=)
c.86205G>C (p.Leu28735=)
c.83247G>C (p.Leu27749=)
c.64863G>C (p.Leu21621=)
c.86358G>C (p.Leu28786=)
c.86355G>C (p.Leu28785=)
c.85788G>C (p.Leu28596=)
c.83130G>C (p.Leu27710=)
c.83049G>C (p.Leu27683=)
c.64812G>C (p.Leu21604=)
c.54666G>C (p.Leu18222=)
 dbSNP gnomAD v3 gnomAD v4
2g.178549805C>TCA430244833TTN,TTN-AS1c.84213G>A (p.Leu28071=)
c.65298G>A (p.Leu21766=)
c.65097G>A (p.Leu21699=)
c.64722G>A (p.Leu21574=)
c.91917G>A (p.Leu30639=)
c.86994G>A (p.Leu28998=)
n.447-21495C>T
n.2043+7444C>T
c.91014G>A (p.Leu30338=)
c.64908G>A (p.Leu21636=)
c.64767G>A (p.Leu21589=)
c.90810G>A (p.Leu30270=)
c.86208G>A (p.Leu28736=)
c.86205G>A (p.Leu28735=)
c.83247G>A (p.Leu27749=)
c.64863G>A (p.Leu21621=)
c.86358G>A (p.Leu28786=)
c.86355G>A (p.Leu28785=)
c.85788G>A (p.Leu28596=)
c.83130G>A (p.Leu27710=)
c.83049G>A (p.Leu27683=)
c.64812G>A (p.Leu21604=)
c.54666G>A (p.Leu18222=)
 gnomAD v4
2g.178549806A>CCA349495890TTN,TTN-AS1c.84212T>G (p.Leu28071Arg)
c.65297T>G (p.Leu21766Arg)
c.65096T>G (p.Leu21699Arg)
c.64721T>G (p.Leu21574Arg)
c.91916T>G (p.Leu30639Arg)
c.86993T>G (p.Leu28998Arg)
n.447-21494A>C
n.2043+7445A>C
c.91013T>G (p.Leu30338Arg)
c.64907T>G (p.Leu21636Arg)
c.64766T>G (p.Leu21589Arg)
c.90809T>G (p.Leu30270Arg)
c.86207T>G (p.Leu28736Arg)
c.86204T>G (p.Leu28735Arg)
c.83246T>G (p.Leu27749Arg)
c.64862T>G (p.Leu21621Arg)
c.86357T>G (p.Leu28786Arg)
c.86354T>G (p.Leu28785Arg)
c.85787T>G (p.Leu28596Arg)
c.83129T>G (p.Leu27710Arg)
c.83048T>G (p.Leu27683Arg)
c.64811T>G (p.Leu21604Arg)
c.54665T>G (p.Leu18222Arg)
2g.178549806A>GCA349495893TTN,TTN-AS1c.84212T>C (p.Leu28071Pro)
c.65297T>C (p.Leu21766Pro)
c.65096T>C (p.Leu21699Pro)
c.64721T>C (p.Leu21574Pro)
c.91916T>C (p.Leu30639Pro)
c.86993T>C (p.Leu28998Pro)
n.447-21494A>G
n.2043+7445A>G
c.91013T>C (p.Leu30338Pro)
c.64907T>C (p.Leu21636Pro)
c.64766T>C (p.Leu21589Pro)
c.90809T>C (p.Leu30270Pro)
c.86207T>C (p.Leu28736Pro)
c.86204T>C (p.Leu28735Pro)
c.83246T>C (p.Leu27749Pro)
c.64862T>C (p.Leu21621Pro)
c.86357T>C (p.Leu28786Pro)
c.86354T>C (p.Leu28785Pro)
c.85787T>C (p.Leu28596Pro)
c.83129T>C (p.Leu27710Pro)
c.83048T>C (p.Leu27683Pro)
c.64811T>C (p.Leu21604Pro)
c.54665T>C (p.Leu18222Pro)
 gnomAD v4
2g.178549806A>TCA349495910TTN,TTN-AS1c.84212T>A (p.Leu28071Gln)
c.65297T>A (p.Leu21766Gln)
c.65096T>A (p.Leu21699Gln)
c.64721T>A (p.Leu21574Gln)
c.91916T>A (p.Leu30639Gln)
c.86993T>A (p.Leu28998Gln)
n.447-21494A>T
n.2043+7445A>T
c.91013T>A (p.Leu30338Gln)
c.64907T>A (p.Leu21636Gln)
c.64766T>A (p.Leu21589Gln)
c.90809T>A (p.Leu30270Gln)
c.86207T>A (p.Leu28736Gln)
c.86204T>A (p.Leu28735Gln)
c.83246T>A (p.Leu27749Gln)
c.64862T>A (p.Leu21621Gln)
c.86357T>A (p.Leu28786Gln)
c.86354T>A (p.Leu28785Gln)
c.85787T>A (p.Leu28596Gln)
c.83129T>A (p.Leu27710Gln)
c.83048T>A (p.Leu27683Gln)
c.64811T>A (p.Leu21604Gln)
c.54665T>A (p.Leu18222Gln)
2g.178549807G>ACA430244835TTN,TTN-AS1c.84211C>T (p.Leu28071=)
c.65296C>T (p.Leu21766=)
c.65095C>T (p.Leu21699=)
c.64720C>T (p.Leu21574=)
c.91915C>T (p.Leu30639=)
c.86992C>T (p.Leu28998=)
n.447-21493G>A
n.2043+7446G>A
c.91012C>T (p.Leu30338=)
c.64906C>T (p.Leu21636=)
c.64765C>T (p.Leu21589=)
c.90808C>T (p.Leu30270=)
c.86206C>T (p.Leu28736=)
c.86203C>T (p.Leu28735=)
c.83245C>T (p.Leu27749=)
c.64861C>T (p.Leu21621=)
c.86356C>T (p.Leu28786=)
c.86353C>T (p.Leu28785=)
c.85786C>T (p.Leu28596=)
c.83128C>T (p.Leu27710=)
c.83047C>T (p.Leu27683=)
c.64810C>T (p.Leu21604=)
c.54664C>T (p.Leu18222=)
2g.178549807G>CCA1987532TTN,TTN-AS1c.84211C>G (p.Leu28071Val)
c.65296C>G (p.Leu21766Val)
c.65095C>G (p.Leu21699Val)
c.64720C>G (p.Leu21574Val)
c.91915C>G (p.Leu30639Val)
c.86992C>G (p.Leu28998Val)
n.447-21493G>C
n.2043+7446G>C
c.91012C>G (p.Leu30338Val)
c.64906C>G (p.Leu21636Val)
c.64765C>G (p.Leu21589Val)
c.90808C>G (p.Leu30270Val)
c.86206C>G (p.Leu28736Val)
c.86203C>G (p.Leu28735Val)
c.83245C>G (p.Leu27749Val)
c.64861C>G (p.Leu21621Val)
c.86356C>G (p.Leu28786Val)
c.86353C>G (p.Leu28785Val)
c.85786C>G (p.Leu28596Val)
c.83128C>G (p.Leu27710Val)
c.83047C>G (p.Leu27683Val)
c.64810C>G (p.Leu21604Val)
c.54664C>G (p.Leu18222Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549807G=CA1310520116TTN,TTN-AS1c.84211C= (p.Leu28071=)
c.65296C= (p.Leu21766=)
c.65095C= (p.Leu21699=)
c.64720C= (p.Leu21574=)
c.91915C= (p.Leu30639=)
c.86992C= (p.Leu28998=)
n.447-21493G=
n.2043+7446G=
c.91012C= (p.Leu30338=)
c.64906C= (p.Leu21636=)
c.64765C= (p.Leu21589=)
c.90808C= (p.Leu30270=)
c.86206C= (p.Leu28736=)
c.86203C= (p.Leu28735=)
c.83245C= (p.Leu27749=)
c.64861C= (p.Leu21621=)
c.86356C= (p.Leu28786=)
c.86353C= (p.Leu28785=)
c.85786C= (p.Leu28596=)
c.83128C= (p.Leu27710=)
c.83047C= (p.Leu27683=)
c.64810C= (p.Leu21604=)
c.54664C= (p.Leu18222=)
2g.178549807G>TCA349495920TTN,TTN-AS1c.84211C>A (p.Leu28071Met)
c.65296C>A (p.Leu21766Met)
c.65095C>A (p.Leu21699Met)
c.64720C>A (p.Leu21574Met)
c.91915C>A (p.Leu30639Met)
c.86992C>A (p.Leu28998Met)
n.447-21493G>T
n.2043+7446G>T
c.91012C>A (p.Leu30338Met)
c.64906C>A (p.Leu21636Met)
c.64765C>A (p.Leu21589Met)
c.90808C>A (p.Leu30270Met)
c.86206C>A (p.Leu28736Met)
c.86203C>A (p.Leu28735Met)
c.83245C>A (p.Leu27749Met)
c.64861C>A (p.Leu21621Met)
c.86356C>A (p.Leu28786Met)
c.86353C>A (p.Leu28785Met)
c.85786C>A (p.Leu28596Met)
c.83128C>A (p.Leu27710Met)
c.83047C>A (p.Leu27683Met)
c.64810C>A (p.Leu21604Met)
c.54664C>A (p.Leu18222Met)
2g.178549808A>CCA430244836TTN,TTN-AS1c.84210T>G (p.Thr28070=)
c.65295T>G (p.Thr21765=)
c.65094T>G (p.Thr21698=)
c.64719T>G (p.Thr21573=)
c.91914T>G (p.Thr30638=)
c.86991T>G (p.Thr28997=)
n.447-21492A>C
n.2043+7447A>C
c.91011T>G (p.Thr30337=)
c.64905T>G (p.Thr21635=)
c.64764T>G (p.Thr21588=)
c.90807T>G (p.Thr30269=)
c.86205T>G (p.Thr28735=)
c.86202T>G (p.Thr28734=)
c.83244T>G (p.Thr27748=)
c.64860T>G (p.Thr21620=)
c.86355T>G (p.Thr28785=)
c.86352T>G (p.Thr28784=)
c.85785T>G (p.Thr28595=)
c.83127T>G (p.Thr27709=)
c.83046T>G (p.Thr27682=)
c.64809T>G (p.Thr21603=)
c.54663T>G (p.Thr18221=)
2g.178549808A>GCA430244839TTN,TTN-AS1c.84210T>C (p.Thr28070=)
c.65295T>C (p.Thr21765=)
c.65094T>C (p.Thr21698=)
c.64719T>C (p.Thr21573=)
c.91914T>C (p.Thr30638=)
c.86991T>C (p.Thr28997=)
n.447-21492A>G
n.2043+7447A>G
c.91011T>C (p.Thr30337=)
c.64905T>C (p.Thr21635=)
c.64764T>C (p.Thr21588=)
c.90807T>C (p.Thr30269=)
c.86205T>C (p.Thr28735=)
c.86202T>C (p.Thr28734=)
c.83244T>C (p.Thr27748=)
c.64860T>C (p.Thr21620=)
c.86355T>C (p.Thr28785=)
c.86352T>C (p.Thr28784=)
c.85785T>C (p.Thr28595=)
c.83127T>C (p.Thr27709=)
c.83046T>C (p.Thr27682=)
c.64809T>C (p.Thr21603=)
c.54663T>C (p.Thr18221=)
 gnomAD v4
2g.178549808A>TCA430244837TTN,TTN-AS1c.84210T>A (p.Thr28070=)
c.65295T>A (p.Thr21765=)
c.65094T>A (p.Thr21698=)
c.64719T>A (p.Thr21573=)
c.91914T>A (p.Thr30638=)
c.86991T>A (p.Thr28997=)
n.447-21492A>T
n.2043+7447A>T
c.91011T>A (p.Thr30337=)
c.64905T>A (p.Thr21635=)
c.64764T>A (p.Thr21588=)
c.90807T>A (p.Thr30269=)
c.86205T>A (p.Thr28735=)
c.86202T>A (p.Thr28734=)
c.83244T>A (p.Thr27748=)
c.64860T>A (p.Thr21620=)
c.86355T>A (p.Thr28785=)
c.86352T>A (p.Thr28784=)
c.85785T>A (p.Thr28595=)
c.83127T>A (p.Thr27709=)
c.83046T>A (p.Thr27682=)
c.64809T>A (p.Thr21603=)
c.54663T>A (p.Thr18221=)
2g.178549809G>ACA349495923TTN,TTN-AS1c.84209C>T (p.Thr28070Ile)
c.65294C>T (p.Thr21765Ile)
c.65093C>T (p.Thr21698Ile)
c.64718C>T (p.Thr21573Ile)
c.91913C>T (p.Thr30638Ile)
c.86990C>T (p.Thr28997Ile)
n.447-21491G>A
n.2043+7448G>A
c.91010C>T (p.Thr30337Ile)
c.64904C>T (p.Thr21635Ile)
c.64763C>T (p.Thr21588Ile)
c.90806C>T (p.Thr30269Ile)
c.86204C>T (p.Thr28735Ile)
c.86201C>T (p.Thr28734Ile)
c.83243C>T (p.Thr27748Ile)
c.64859C>T (p.Thr21620Ile)
c.86354C>T (p.Thr28785Ile)
c.86351C>T (p.Thr28784Ile)
c.85784C>T (p.Thr28595Ile)
c.83126C>T (p.Thr27709Ile)
c.83045C>T (p.Thr27682Ile)
c.64808C>T (p.Thr21603Ile)
c.54662C>T (p.Thr18221Ile)
2g.178549809G>CCA349495936TTN,TTN-AS1c.84209C>G (p.Thr28070Ser)
c.65294C>G (p.Thr21765Ser)
c.65093C>G (p.Thr21698Ser)
c.64718C>G (p.Thr21573Ser)
c.91913C>G (p.Thr30638Ser)
c.86990C>G (p.Thr28997Ser)
n.447-21491G>C
n.2043+7448G>C
c.91010C>G (p.Thr30337Ser)
c.64904C>G (p.Thr21635Ser)
c.64763C>G (p.Thr21588Ser)
c.90806C>G (p.Thr30269Ser)
c.86204C>G (p.Thr28735Ser)
c.86201C>G (p.Thr28734Ser)
c.83243C>G (p.Thr27748Ser)
c.64859C>G (p.Thr21620Ser)
c.86354C>G (p.Thr28785Ser)
c.86351C>G (p.Thr28784Ser)
c.85784C>G (p.Thr28595Ser)
c.83126C>G (p.Thr27709Ser)
c.83045C>G (p.Thr27682Ser)
c.64808C>G (p.Thr21603Ser)
c.54662C>G (p.Thr18221Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178549809G=CA1310520117TTN,TTN-AS1c.84209C= (p.Thr28070=)
c.65294C= (p.Thr21765=)
c.65093C= (p.Thr21698=)
c.64718C= (p.Thr21573=)
c.91913C= (p.Thr30638=)
c.86990C= (p.Thr28997=)
n.447-21491G=
n.2043+7448G=
c.91010C= (p.Thr30337=)
c.64904C= (p.Thr21635=)
c.64763C= (p.Thr21588=)
c.90806C= (p.Thr30269=)
c.86204C= (p.Thr28735=)
c.86201C= (p.Thr28734=)
c.83243C= (p.Thr27748=)
c.64859C= (p.Thr21620=)
c.86354C= (p.Thr28785=)
c.86351C= (p.Thr28784=)
c.85784C= (p.Thr28595=)
c.83126C= (p.Thr27709=)
c.83045C= (p.Thr27682=)
c.64808C= (p.Thr21603=)
c.54662C= (p.Thr18221=)
2g.178549809G>TCA349495927TTN,TTN-AS1c.84209C>A (p.Thr28070Asn)
c.65294C>A (p.Thr21765Asn)
c.65093C>A (p.Thr21698Asn)
c.64718C>A (p.Thr21573Asn)
c.91913C>A (p.Thr30638Asn)
c.86990C>A (p.Thr28997Asn)
n.447-21491G>T
n.2043+7448G>T
c.91010C>A (p.Thr30337Asn)
c.64904C>A (p.Thr21635Asn)
c.64763C>A (p.Thr21588Asn)
c.90806C>A (p.Thr30269Asn)
c.86204C>A (p.Thr28735Asn)
c.86201C>A (p.Thr28734Asn)
c.83243C>A (p.Thr27748Asn)
c.64859C>A (p.Thr21620Asn)
c.86354C>A (p.Thr28785Asn)
c.86351C>A (p.Thr28784Asn)
c.85784C>A (p.Thr28595Asn)
c.83126C>A (p.Thr27709Asn)
c.83045C>A (p.Thr27682Asn)
c.64808C>A (p.Thr21603Asn)
c.54662C>A (p.Thr18221Asn)
2g.178549809_178549811delinsAGATGACTCA2825001015TTN,TTN-AS1c.84207_84209delinsAGTCATCT (p.Met28069IlefsTer18)
c.65292_65294delinsAGTCATCT (p.Met21764IlefsTer18)
c.65091_65093delinsAGTCATCT (p.Met21697IlefsTer18)
c.64716_64718delinsAGTCATCT (p.Met21572IlefsTer18)
c.91911_91913delinsAGTCATCT (p.Met30637IlefsTer18)
c.86988_86990delinsAGTCATCT (p.Met28996IlefsTer18)
n.447-21491_447-21489delinsAGATGACT
n.2043+7448_2043+7450delinsAGATGACT
c.91008_91010delinsAGTCATCT (p.Met30336IlefsTer18)
c.64902_64904delinsAGTCATCT (p.Met21634IlefsTer18)
c.64761_64763delinsAGTCATCT (p.Met21587IlefsTer18)
c.90804_90806delinsAGTCATCT (p.Met30268IlefsTer18)
c.86202_86204delinsAGTCATCT (p.Met28734IlefsTer18)
c.86199_86201delinsAGTCATCT (p.Met28733IlefsTer18)
c.83241_83243delinsAGTCATCT (p.Met27747IlefsTer18)
c.64857_64859delinsAGTCATCT (p.Met21619IlefsTer18)
c.86352_86354delinsAGTCATCT (p.Met28784IlefsTer18)
c.86349_86351delinsAGTCATCT (p.Met28783IlefsTer18)
c.85782_85784delinsAGTCATCT (p.Met28594IlefsTer18)
c.83124_83126delinsAGTCATCT (p.Met27708IlefsTer18)
c.83043_83045delinsAGTCATCT (p.Met27681IlefsTer18)
c.64806_64808delinsAGTCATCT (p.Met21602IlefsTer18)
c.54660_54662delinsAGTCATCT (p.Met18220IlefsTer18)
 ClinVar
2g.178549810T>ACA349495950TTN,TTN-AS1c.84208A>T (p.Thr28070Ser)
c.65293A>T (p.Thr21765Ser)
c.65092A>T (p.Thr21698Ser)
c.64717A>T (p.Thr21573Ser)
c.91912A>T (p.Thr30638Ser)
c.86989A>T (p.Thr28997Ser)
n.447-21490T>A
n.2043+7449T>A
c.91009A>T (p.Thr30337Ser)
c.64903A>T (p.Thr21635Ser)
c.64762A>T (p.Thr21588Ser)
c.90805A>T (p.Thr30269Ser)
c.86203A>T (p.Thr28735Ser)
c.86200A>T (p.Thr28734Ser)
c.83242A>T (p.Thr27748Ser)
c.64858A>T (p.Thr21620Ser)
c.86353A>T (p.Thr28785Ser)
c.86350A>T (p.Thr28784Ser)
c.85783A>T (p.Thr28595Ser)
c.83125A>T (p.Thr27709Ser)
c.83044A>T (p.Thr27682Ser)
c.64807A>T (p.Thr21603Ser)
c.54661A>T (p.Thr18221Ser)
2g.178549810T>CCA349495953TTN,TTN-AS1c.84208A>G (p.Thr28070Ala)
c.65293A>G (p.Thr21765Ala)
c.65092A>G (p.Thr21698Ala)
c.64717A>G (p.Thr21573Ala)
c.91912A>G (p.Thr30638Ala)
c.86989A>G (p.Thr28997Ala)
n.447-21490T>C
n.2043+7449T>C
c.91009A>G (p.Thr30337Ala)
c.64903A>G (p.Thr21635Ala)
c.64762A>G (p.Thr21588Ala)
c.90805A>G (p.Thr30269Ala)
c.86203A>G (p.Thr28735Ala)
c.86200A>G (p.Thr28734Ala)
c.83242A>G (p.Thr27748Ala)
c.64858A>G (p.Thr21620Ala)
c.86353A>G (p.Thr28785Ala)
c.86350A>G (p.Thr28784Ala)
c.85783A>G (p.Thr28595Ala)
c.83125A>G (p.Thr27709Ala)
c.83044A>G (p.Thr27682Ala)
c.64807A>G (p.Thr21603Ala)
c.54661A>G (p.Thr18221Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178549810T>GCA349495960TTN,TTN-AS1c.84208A>C (p.Thr28070Pro)
c.65293A>C (p.Thr21765Pro)
c.65092A>C (p.Thr21698Pro)
c.64717A>C (p.Thr21573Pro)
c.91912A>C (p.Thr30638Pro)
c.86989A>C (p.Thr28997Pro)
n.447-21490T>G
n.2043+7449T>G
c.91009A>C (p.Thr30337Pro)
c.64903A>C (p.Thr21635Pro)
c.64762A>C (p.Thr21588Pro)
c.90805A>C (p.Thr30269Pro)
c.86203A>C (p.Thr28735Pro)
c.86200A>C (p.Thr28734Pro)
c.83242A>C (p.Thr27748Pro)
c.64858A>C (p.Thr21620Pro)
c.86353A>C (p.Thr28785Pro)
c.86350A>C (p.Thr28784Pro)
c.85783A>C (p.Thr28595Pro)
c.83125A>C (p.Thr27709Pro)
c.83044A>C (p.Thr27682Pro)
c.64807A>C (p.Thr21603Pro)
c.54661A>C (p.Thr18221Pro)
2g.178549811C>ACA349495961TTN,TTN-AS1c.84207G>T (p.Met28069Ile)
c.65292G>T (p.Met21764Ile)
c.65091G>T (p.Met21697Ile)
c.64716G>T (p.Met21572Ile)
c.91911G>T (p.Met30637Ile)
c.86988G>T (p.Met28996Ile)
n.447-21489C>A
n.2043+7450C>A
c.91008G>T (p.Met30336Ile)
c.64902G>T (p.Met21634Ile)
c.64761G>T (p.Met21587Ile)
c.90804G>T (p.Met30268Ile)
c.86202G>T (p.Met28734Ile)
c.86199G>T (p.Met28733Ile)
c.83241G>T (p.Met27747Ile)
c.64857G>T (p.Met21619Ile)
c.86352G>T (p.Met28784Ile)
c.86349G>T (p.Met28783Ile)
c.85782G>T (p.Met28594Ile)
c.83124G>T (p.Met27708Ile)
c.83043G>T (p.Met27681Ile)
c.64806G>T (p.Met21602Ile)
c.54660G>T (p.Met18220Ile)
2g.178549811C>GCA349495967TTN,TTN-AS1c.84207G>C (p.Met28069Ile)
c.65292G>C (p.Met21764Ile)
c.65091G>C (p.Met21697Ile)
c.64716G>C (p.Met21572Ile)
c.91911G>C (p.Met30637Ile)
c.86988G>C (p.Met28996Ile)
n.447-21489C>G
n.2043+7450C>G
c.91008G>C (p.Met30336Ile)
c.64902G>C (p.Met21634Ile)
c.64761G>C (p.Met21587Ile)
c.90804G>C (p.Met30268Ile)
c.86202G>C (p.Met28734Ile)
c.86199G>C (p.Met28733Ile)
c.83241G>C (p.Met27747Ile)
c.64857G>C (p.Met21619Ile)
c.86352G>C (p.Met28784Ile)
c.86349G>C (p.Met28783Ile)
c.85782G>C (p.Met28594Ile)
c.83124G>C (p.Met27708Ile)
c.83043G>C (p.Met27681Ile)
c.64806G>C (p.Met21602Ile)
c.54660G>C (p.Met18220Ile)
2g.178549811C>TCA349495969TTN,TTN-AS1c.84207G>A (p.Met28069Ile)
c.65292G>A (p.Met21764Ile)
c.65091G>A (p.Met21697Ile)
c.64716G>A (p.Met21572Ile)
c.91911G>A (p.Met30637Ile)
c.86988G>A (p.Met28996Ile)
n.447-21489C>T
n.2043+7450C>T
c.91008G>A (p.Met30336Ile)
c.64902G>A (p.Met21634Ile)
c.64761G>A (p.Met21587Ile)
c.90804G>A (p.Met30268Ile)
c.86202G>A (p.Met28734Ile)
c.86199G>A (p.Met28733Ile)
c.83241G>A (p.Met27747Ile)
c.64857G>A (p.Met21619Ile)
c.86352G>A (p.Met28784Ile)
c.86349G>A (p.Met28783Ile)
c.85782G>A (p.Met28594Ile)
c.83124G>A (p.Met27708Ile)
c.83043G>A (p.Met27681Ile)
c.64806G>A (p.Met21602Ile)
c.54660G>A (p.Met18220Ile)
2g.178549812A=CA1310520118TTN,TTN-AS1c.84206T= (p.Met28069=)
c.65291T= (p.Met21764=)
c.65090T= (p.Met21697=)
c.64715T= (p.Met21572=)
c.91910T= (p.Met30637=)
c.86987T= (p.Met28996=)
n.447-21488A=
n.2043+7451A=
c.91007T= (p.Met30336=)
c.64901T= (p.Met21634=)
c.64760T= (p.Met21587=)
c.90803T= (p.Met30268=)
c.86201T= (p.Met28734=)
c.86198T= (p.Met28733=)
c.83240T= (p.Met27747=)
c.64856T= (p.Met21619=)
c.86351T= (p.Met28784=)
c.86348T= (p.Met28783=)
c.85781T= (p.Met28594=)
c.83123T= (p.Met27708=)
c.83042T= (p.Met27681=)
c.64805T= (p.Met21602=)
c.54659T= (p.Met18220=)
2g.178549812A>CCA349495982TTN,TTN-AS1c.84206T>G (p.Met28069Arg)
c.65291T>G (p.Met21764Arg)
c.65090T>G (p.Met21697Arg)
c.64715T>G (p.Met21572Arg)
c.91910T>G (p.Met30637Arg)
c.86987T>G (p.Met28996Arg)
n.447-21488A>C
n.2043+7451A>C
c.91007T>G (p.Met30336Arg)
c.64901T>G (p.Met21634Arg)
c.64760T>G (p.Met21587Arg)
c.90803T>G (p.Met30268Arg)
c.86201T>G (p.Met28734Arg)
c.86198T>G (p.Met28733Arg)
c.83240T>G (p.Met27747Arg)
c.64856T>G (p.Met21619Arg)
c.86351T>G (p.Met28784Arg)
c.86348T>G (p.Met28783Arg)
c.85781T>G (p.Met28594Arg)
c.83123T>G (p.Met27708Arg)
c.83042T>G (p.Met27681Arg)
c.64805T>G (p.Met21602Arg)
c.54659T>G (p.Met18220Arg)
2g.178549812A>GCA349495976TTN,TTN-AS1c.84206T>C (p.Met28069Thr)
c.65291T>C (p.Met21764Thr)
c.65090T>C (p.Met21697Thr)
c.64715T>C (p.Met21572Thr)
c.91910T>C (p.Met30637Thr)
c.86987T>C (p.Met28996Thr)
n.447-21488A>G
n.2043+7451A>G
c.91007T>C (p.Met30336Thr)
c.64901T>C (p.Met21634Thr)
c.64760T>C (p.Met21587Thr)
c.90803T>C (p.Met30268Thr)
c.86201T>C (p.Met28734Thr)
c.86198T>C (p.Met28733Thr)
c.83240T>C (p.Met27747Thr)
c.64856T>C (p.Met21619Thr)
c.86351T>C (p.Met28784Thr)
c.86348T>C (p.Met28783Thr)
c.85781T>C (p.Met28594Thr)
c.83123T>C (p.Met27708Thr)
c.83042T>C (p.Met27681Thr)
c.64805T>C (p.Met21602Thr)
c.54659T>C (p.Met18220Thr)
 gnomAD v4
2g.178549812A>TCA349495978TTN,TTN-AS1c.84206T>A (p.Met28069Lys)
c.65291T>A (p.Met21764Lys)
c.65090T>A (p.Met21697Lys)
c.64715T>A (p.Met21572Lys)
c.91910T>A (p.Met30637Lys)
c.86987T>A (p.Met28996Lys)
n.447-21488A>T
n.2043+7451A>T
c.91007T>A (p.Met30336Lys)
c.64901T>A (p.Met21634Lys)
c.64760T>A (p.Met21587Lys)
c.90803T>A (p.Met30268Lys)
c.86201T>A (p.Met28734Lys)
c.86198T>A (p.Met28733Lys)
c.83240T>A (p.Met27747Lys)
c.64856T>A (p.Met21619Lys)
c.86351T>A (p.Met28784Lys)
c.86348T>A (p.Met28783Lys)
c.85781T>A (p.Met28594Lys)
c.83123T>A (p.Met27708Lys)
c.83042T>A (p.Met27681Lys)
c.64805T>A (p.Met21602Lys)
c.54659T>A (p.Met18220Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178549813T>ACA10604211TTN,TTN-AS1c.84205A>T (p.Met28069Leu)
c.65290A>T (p.Met21764Leu)
c.65089A>T (p.Met21697Leu)
c.64714A>T (p.Met21572Leu)
c.91909A>T (p.Met30637Leu)
c.86986A>T (p.Met28996Leu)
n.447-21487T>A
n.2043+7452T>A
c.91006A>T (p.Met30336Leu)
c.64900A>T (p.Met21634Leu)
c.64759A>T (p.Met21587Leu)
c.90802A>T (p.Met30268Leu)
c.86200A>T (p.Met28734Leu)
c.86197A>T (p.Met28733Leu)
c.83239A>T (p.Met27747Leu)
c.64855A>T (p.Met21619Leu)
c.86350A>T (p.Met28784Leu)
c.86347A>T (p.Met28783Leu)
c.85780A>T (p.Met28594Leu)
c.83122A>T (p.Met27708Leu)
c.83041A>T (p.Met27681Leu)
c.64804A>T (p.Met21602Leu)
c.54658A>T (p.Met18220Leu)
 ClinVar dbSNP
2g.178549813T>CCA1987533TTN,TTN-AS1c.84205A>G (p.Met28069Val)
c.65290A>G (p.Met21764Val)
c.65089A>G (p.Met21697Val)
c.64714A>G (p.Met21572Val)
c.91909A>G (p.Met30637Val)
c.86986A>G (p.Met28996Val)
n.447-21487T>C
n.2043+7452T>C
c.91006A>G (p.Met30336Val)
c.64900A>G (p.Met21634Val)
c.64759A>G (p.Met21587Val)
c.90802A>G (p.Met30268Val)
c.86200A>G (p.Met28734Val)
c.86197A>G (p.Met28733Val)
c.83239A>G (p.Met27747Val)
c.64855A>G (p.Met21619Val)
c.86350A>G (p.Met28784Val)
c.86347A>G (p.Met28783Val)
c.85780A>G (p.Met28594Val)
c.83122A>G (p.Met27708Val)
c.83041A>G (p.Met27681Val)
c.64804A>G (p.Met21602Val)
c.54658A>G (p.Met18220Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549813T>GCA349496003TTN,TTN-AS1c.84205A>C (p.Met28069Leu)
c.65290A>C (p.Met21764Leu)
c.65089A>C (p.Met21697Leu)
c.64714A>C (p.Met21572Leu)
c.91909A>C (p.Met30637Leu)
c.86986A>C (p.Met28996Leu)
n.447-21487T>G
n.2043+7452T>G
c.91006A>C (p.Met30336Leu)
c.64900A>C (p.Met21634Leu)
c.64759A>C (p.Met21587Leu)
c.90802A>C (p.Met30268Leu)
c.86200A>C (p.Met28734Leu)
c.86197A>C (p.Met28733Leu)
c.83239A>C (p.Met27747Leu)
c.64855A>C (p.Met21619Leu)
c.86350A>C (p.Met28784Leu)
c.86347A>C (p.Met28783Leu)
c.85780A>C (p.Met28594Leu)
c.83122A>C (p.Met27708Leu)
c.83041A>C (p.Met27681Leu)
c.64804A>C (p.Met21602Leu)
c.54658A>C (p.Met18220Leu)
2g.178549813T=CA1310520119TTN,TTN-AS1c.84205A= (p.Met28069=)
c.65290A= (p.Met21764=)
c.65089A= (p.Met21697=)
c.64714A= (p.Met21572=)
c.91909A= (p.Met30637=)
c.86986A= (p.Met28996=)
n.447-21487T=
n.2043+7452T=
c.91006A= (p.Met30336=)
c.64900A= (p.Met21634=)
c.64759A= (p.Met21587=)
c.90802A= (p.Met30268=)
c.86200A= (p.Met28734=)
c.86197A= (p.Met28733=)
c.83239A= (p.Met27747=)
c.64855A= (p.Met21619=)
c.86350A= (p.Met28784=)
c.86347A= (p.Met28783=)
c.85780A= (p.Met28594=)
c.83122A= (p.Met27708=)
c.83041A= (p.Met27681=)
c.64804A= (p.Met21602=)
c.54658A= (p.Met18220=)
2g.178549816_178549818delCA2662125269TTN,TTN-AS1c.84203_84205del (p.Lys28068del)
c.65288_65290del (p.Lys21763del)
c.65087_65089del (p.Lys21696del)
c.64712_64714del (p.Lys21571del)
c.91907_91909del (p.Lys30636del)
c.86984_86986del (p.Lys28995del)
n.447-21484_447-21482del
n.2043+7455_2043+7457del
c.91004_91006del (p.Lys30335del)
c.64898_64900del (p.Lys21633del)
c.64757_64759del (p.Lys21586del)
c.90800_90802del (p.Lys30267del)
c.86198_86200del (p.Lys28733del)
c.86195_86197del (p.Lys28732del)
c.83237_83239del (p.Lys27746del)
c.64853_64855del (p.Lys21618del)
c.86348_86350del (p.Lys28783del)
c.86345_86347del (p.Lys28782del)
c.85778_85780del (p.Lys28593del)
c.83120_83122del (p.Lys27707del)
c.83039_83041del (p.Lys27680del)
c.64802_64804del (p.Lys21601del)
c.54656_54658del (p.Lys18219del)
 gnomAD v4
2g.178549814C>ACA349496007TTN,TTN-AS1c.84204G>T (p.Lys28068Asn)
c.65289G>T (p.Lys21763Asn)
c.65088G>T (p.Lys21696Asn)
c.64713G>T (p.Lys21571Asn)
c.91908G>T (p.Lys30636Asn)
c.86985G>T (p.Lys28995Asn)
n.447-21486C>A
n.2043+7453C>A
c.91005G>T (p.Lys30335Asn)
c.64899G>T (p.Lys21633Asn)
c.64758G>T (p.Lys21586Asn)
c.90801G>T (p.Lys30267Asn)
c.86199G>T (p.Lys28733Asn)
c.86196G>T (p.Lys28732Asn)
c.83238G>T (p.Lys27746Asn)
c.64854G>T (p.Lys21618Asn)
c.86349G>T (p.Lys28783Asn)
c.86346G>T (p.Lys28782Asn)
c.85779G>T (p.Lys28593Asn)
c.83121G>T (p.Lys27707Asn)
c.83040G>T (p.Lys27680Asn)
c.64803G>T (p.Lys21601Asn)
c.54657G>T (p.Lys18219Asn)
2g.178549814C>GCA349496008TTN,TTN-AS1c.84204G>C (p.Lys28068Asn)
c.65289G>C (p.Lys21763Asn)
c.65088G>C (p.Lys21696Asn)
c.64713G>C (p.Lys21571Asn)
c.91908G>C (p.Lys30636Asn)
c.86985G>C (p.Lys28995Asn)
n.447-21486C>G
n.2043+7453C>G
c.91005G>C (p.Lys30335Asn)
c.64899G>C (p.Lys21633Asn)
c.64758G>C (p.Lys21586Asn)
c.90801G>C (p.Lys30267Asn)
c.86199G>C (p.Lys28733Asn)
c.86196G>C (p.Lys28732Asn)
c.83238G>C (p.Lys27746Asn)
c.64854G>C (p.Lys21618Asn)
c.86349G>C (p.Lys28783Asn)
c.86346G>C (p.Lys28782Asn)
c.85779G>C (p.Lys28593Asn)
c.83121G>C (p.Lys27707Asn)
c.83040G>C (p.Lys27680Asn)
c.64803G>C (p.Lys21601Asn)
c.54657G>C (p.Lys18219Asn)
2g.178549814C>TCA430244842TTN,TTN-AS1c.84204G>A (p.Lys28068=)
c.65289G>A (p.Lys21763=)
c.65088G>A (p.Lys21696=)
c.64713G>A (p.Lys21571=)
c.91908G>A (p.Lys30636=)
c.86985G>A (p.Lys28995=)
n.447-21486C>T
n.2043+7453C>T
c.91005G>A (p.Lys30335=)
c.64899G>A (p.Lys21633=)
c.64758G>A (p.Lys21586=)
c.90801G>A (p.Lys30267=)
c.86199G>A (p.Lys28733=)
c.86196G>A (p.Lys28732=)
c.83238G>A (p.Lys27746=)
c.64854G>A (p.Lys21618=)
c.86349G>A (p.Lys28783=)
c.86346G>A (p.Lys28782=)
c.85779G>A (p.Lys28593=)
c.83121G>A (p.Lys27707=)
c.83040G>A (p.Lys27680=)
c.64803G>A (p.Lys21601=)
c.54657G>A (p.Lys18219=)
2g.178549815T>ACA349496011TTN,TTN-AS1c.84203A>T (p.Lys28068Met)
c.65288A>T (p.Lys21763Met)
c.65087A>T (p.Lys21696Met)
c.64712A>T (p.Lys21571Met)
c.91907A>T (p.Lys30636Met)
c.86984A>T (p.Lys28995Met)
n.447-21485T>A
n.2043+7454T>A
c.91004A>T (p.Lys30335Met)
c.64898A>T (p.Lys21633Met)
c.64757A>T (p.Lys21586Met)
c.90800A>T (p.Lys30267Met)
c.86198A>T (p.Lys28733Met)
c.86195A>T (p.Lys28732Met)
c.83237A>T (p.Lys27746Met)
c.64853A>T (p.Lys21618Met)
c.86348A>T (p.Lys28783Met)
c.86345A>T (p.Lys28782Met)
c.85778A>T (p.Lys28593Met)
c.83120A>T (p.Lys27707Met)
c.83039A>T (p.Lys27680Met)
c.64802A>T (p.Lys21601Met)
c.54656A>T (p.Lys18219Met)
2g.178549815T>CCA349496043TTN,TTN-AS1c.84203A>G (p.Lys28068Arg)
c.65288A>G (p.Lys21763Arg)
c.65087A>G (p.Lys21696Arg)
c.64712A>G (p.Lys21571Arg)
c.91907A>G (p.Lys30636Arg)
c.86984A>G (p.Lys28995Arg)
n.447-21485T>C
n.2043+7454T>C
c.91004A>G (p.Lys30335Arg)
c.64898A>G (p.Lys21633Arg)
c.64757A>G (p.Lys21586Arg)
c.90800A>G (p.Lys30267Arg)
c.86198A>G (p.Lys28733Arg)
c.86195A>G (p.Lys28732Arg)
c.83237A>G (p.Lys27746Arg)
c.64853A>G (p.Lys21618Arg)
c.86348A>G (p.Lys28783Arg)
c.86345A>G (p.Lys28782Arg)
c.85778A>G (p.Lys28593Arg)
c.83120A>G (p.Lys27707Arg)
c.83039A>G (p.Lys27680Arg)
c.64802A>G (p.Lys21601Arg)
c.54656A>G (p.Lys18219Arg)
2g.178549815T>GCA349496031TTN,TTN-AS1c.84203A>C (p.Lys28068Thr)
c.65288A>C (p.Lys21763Thr)
c.65087A>C (p.Lys21696Thr)
c.64712A>C (p.Lys21571Thr)
c.91907A>C (p.Lys30636Thr)
c.86984A>C (p.Lys28995Thr)
n.447-21485T>G
n.2043+7454T>G
c.91004A>C (p.Lys30335Thr)
c.64898A>C (p.Lys21633Thr)
c.64757A>C (p.Lys21586Thr)
c.90800A>C (p.Lys30267Thr)
c.86198A>C (p.Lys28733Thr)
c.86195A>C (p.Lys28732Thr)
c.83237A>C (p.Lys27746Thr)
c.64853A>C (p.Lys21618Thr)
c.86348A>C (p.Lys28783Thr)
c.86345A>C (p.Lys28782Thr)
c.85778A>C (p.Lys28593Thr)
c.83120A>C (p.Lys27707Thr)
c.83039A>C (p.Lys27680Thr)
c.64802A>C (p.Lys21601Thr)
c.54656A>C (p.Lys18219Thr)
2g.178549816T>ACA349496046TTN,TTN-AS1c.84202A>T (p.Lys28068Ter)
c.65287A>T (p.Lys21763Ter)
c.65086A>T (p.Lys21696Ter)
c.64711A>T (p.Lys21571Ter)
c.91906A>T (p.Lys30636Ter)
c.86983A>T (p.Lys28995Ter)
n.447-21484T>A
n.2043+7455T>A
c.91003A>T (p.Lys30335Ter)
c.64897A>T (p.Lys21633Ter)
c.64756A>T (p.Lys21586Ter)
c.90799A>T (p.Lys30267Ter)
c.86197A>T (p.Lys28733Ter)
c.86194A>T (p.Lys28732Ter)
c.83236A>T (p.Lys27746Ter)
c.64852A>T (p.Lys21618Ter)
c.86347A>T (p.Lys28783Ter)
c.86344A>T (p.Lys28782Ter)
c.85777A>T (p.Lys28593Ter)
c.83119A>T (p.Lys27707Ter)
c.83038A>T (p.Lys27680Ter)
c.64801A>T (p.Lys21601Ter)
c.54655A>T (p.Lys18219Ter)
2g.178549816T>CCA349496050TTN,TTN-AS1c.84202A>G (p.Lys28068Glu)
c.65287A>G (p.Lys21763Glu)
c.65086A>G (p.Lys21696Glu)
c.64711A>G (p.Lys21571Glu)
c.91906A>G (p.Lys30636Glu)
c.86983A>G (p.Lys28995Glu)
n.447-21484T>C
n.2043+7455T>C
c.91003A>G (p.Lys30335Glu)
c.64897A>G (p.Lys21633Glu)
c.64756A>G (p.Lys21586Glu)
c.90799A>G (p.Lys30267Glu)
c.86197A>G (p.Lys28733Glu)
c.86194A>G (p.Lys28732Glu)
c.83236A>G (p.Lys27746Glu)
c.64852A>G (p.Lys21618Glu)
c.86347A>G (p.Lys28783Glu)
c.86344A>G (p.Lys28782Glu)
c.85777A>G (p.Lys28593Glu)
c.83119A>G (p.Lys27707Glu)
c.83038A>G (p.Lys27680Glu)
c.64801A>G (p.Lys21601Glu)
c.54655A>G (p.Lys18219Glu)
2g.178549816T>GCA349496051TTN,TTN-AS1c.84202A>C (p.Lys28068Gln)
c.65287A>C (p.Lys21763Gln)
c.65086A>C (p.Lys21696Gln)
c.64711A>C (p.Lys21571Gln)
c.91906A>C (p.Lys30636Gln)
c.86983A>C (p.Lys28995Gln)
n.447-21484T>G
n.2043+7455T>G
c.91003A>C (p.Lys30335Gln)
c.64897A>C (p.Lys21633Gln)
c.64756A>C (p.Lys21586Gln)
c.90799A>C (p.Lys30267Gln)
c.86197A>C (p.Lys28733Gln)
c.86194A>C (p.Lys28732Gln)
c.83236A>C (p.Lys27746Gln)
c.64852A>C (p.Lys21618Gln)
c.86347A>C (p.Lys28783Gln)
c.86344A>C (p.Lys28782Gln)
c.85777A>C (p.Lys28593Gln)
c.83119A>C (p.Lys27707Gln)
c.83038A>C (p.Lys27680Gln)
c.64801A>C (p.Lys21601Gln)
c.54655A>C (p.Lys18219Gln)
2g.178549817C>ACA349496053TTN,TTN-AS1c.84201G>T (p.Glu28067Asp)
c.65286G>T (p.Glu21762Asp)
c.65085G>T (p.Glu21695Asp)
c.64710G>T (p.Glu21570Asp)
c.91905G>T (p.Glu30635Asp)
c.86982G>T (p.Glu28994Asp)
n.447-21483C>A
n.2043+7456C>A
c.91002G>T (p.Glu30334Asp)
c.64896G>T (p.Glu21632Asp)
c.64755G>T (p.Glu21585Asp)
c.90798G>T (p.Glu30266Asp)
c.86196G>T (p.Glu28732Asp)
c.86193G>T (p.Glu28731Asp)
c.83235G>T (p.Glu27745Asp)
c.64851G>T (p.Glu21617Asp)
c.86346G>T (p.Glu28782Asp)
c.86343G>T (p.Glu28781Asp)
c.85776G>T (p.Glu28592Asp)
c.83118G>T (p.Glu27706Asp)
c.83037G>T (p.Glu27679Asp)
c.64800G>T (p.Glu21600Asp)
c.54654G>T (p.Glu18218Asp)
2g.178549817C>GCA349496061TTN,TTN-AS1c.84201G>C (p.Glu28067Asp)
c.65286G>C (p.Glu21762Asp)
c.65085G>C (p.Glu21695Asp)
c.64710G>C (p.Glu21570Asp)
c.91905G>C (p.Glu30635Asp)
c.86982G>C (p.Glu28994Asp)
n.447-21483C>G
n.2043+7456C>G
c.91002G>C (p.Glu30334Asp)
c.64896G>C (p.Glu21632Asp)
c.64755G>C (p.Glu21585Asp)
c.90798G>C (p.Glu30266Asp)
c.86196G>C (p.Glu28732Asp)
c.86193G>C (p.Glu28731Asp)
c.83235G>C (p.Glu27745Asp)
c.64851G>C (p.Glu21617Asp)
c.86346G>C (p.Glu28782Asp)
c.86343G>C (p.Glu28781Asp)
c.85776G>C (p.Glu28592Asp)
c.83118G>C (p.Glu27706Asp)
c.83037G>C (p.Glu27679Asp)
c.64800G>C (p.Glu21600Asp)
c.54654G>C (p.Glu18218Asp)
2g.178549817C>TCA430244843TTN,TTN-AS1c.84201G>A (p.Glu28067=)
c.65286G>A (p.Glu21762=)
c.65085G>A (p.Glu21695=)
c.64710G>A (p.Glu21570=)
c.91905G>A (p.Glu30635=)
c.86982G>A (p.Glu28994=)
n.447-21483C>T
n.2043+7456C>T
c.91002G>A (p.Glu30334=)
c.64896G>A (p.Glu21632=)
c.64755G>A (p.Glu21585=)
c.90798G>A (p.Glu30266=)
c.86196G>A (p.Glu28732=)
c.86193G>A (p.Glu28731=)
c.83235G>A (p.Glu27745=)
c.64851G>A (p.Glu21617=)
c.86346G>A (p.Glu28782=)
c.86343G>A (p.Glu28781=)
c.85776G>A (p.Glu28592=)
c.83118G>A (p.Glu27706=)
c.83037G>A (p.Glu27679=)
c.64800G>A (p.Glu21600=)
c.54654G>A (p.Glu18218=)
 ClinVar gnomAD v4
2g.178549818T>ACA349496062TTN,TTN-AS1c.84200A>T (p.Glu28067Val)
c.65285A>T (p.Glu21762Val)
c.65084A>T (p.Glu21695Val)
c.64709A>T (p.Glu21570Val)
c.91904A>T (p.Glu30635Val)
c.86981A>T (p.Glu28994Val)
n.447-21482T>A
n.2043+7457T>A
c.91001A>T (p.Glu30334Val)
c.64895A>T (p.Glu21632Val)
c.64754A>T (p.Glu21585Val)
c.90797A>T (p.Glu30266Val)
c.86195A>T (p.Glu28732Val)
c.86192A>T (p.Glu28731Val)
c.83234A>T (p.Glu27745Val)
c.64850A>T (p.Glu21617Val)
c.86345A>T (p.Glu28782Val)
c.86342A>T (p.Glu28781Val)
c.85775A>T (p.Glu28592Val)
c.83117A>T (p.Glu27706Val)
c.83036A>T (p.Glu27679Val)
c.64799A>T (p.Glu21600Val)
c.54653A>T (p.Glu18218Val)
2g.178549818T>CCA349496063TTN,TTN-AS1c.84200A>G (p.Glu28067Gly)
c.65285A>G (p.Glu21762Gly)
c.65084A>G (p.Glu21695Gly)
c.64709A>G (p.Glu21570Gly)
c.91904A>G (p.Glu30635Gly)
c.86981A>G (p.Glu28994Gly)
n.447-21482T>C
n.2043+7457T>C
c.91001A>G (p.Glu30334Gly)
c.64895A>G (p.Glu21632Gly)
c.64754A>G (p.Glu21585Gly)
c.90797A>G (p.Glu30266Gly)
c.86195A>G (p.Glu28732Gly)
c.86192A>G (p.Glu28731Gly)
c.83234A>G (p.Glu27745Gly)
c.64850A>G (p.Glu21617Gly)
c.86345A>G (p.Glu28782Gly)
c.86342A>G (p.Glu28781Gly)
c.85775A>G (p.Glu28592Gly)
c.83117A>G (p.Glu27706Gly)
c.83036A>G (p.Glu27679Gly)
c.64799A>G (p.Glu21600Gly)
c.54653A>G (p.Glu18218Gly)
2g.178549818T>GCA349496064TTN,TTN-AS1c.84200A>C (p.Glu28067Ala)
c.65285A>C (p.Glu21762Ala)
c.65084A>C (p.Glu21695Ala)
c.64709A>C (p.Glu21570Ala)
c.91904A>C (p.Glu30635Ala)
c.86981A>C (p.Glu28994Ala)
n.447-21482T>G
n.2043+7457T>G
c.91001A>C (p.Glu30334Ala)
c.64895A>C (p.Glu21632Ala)
c.64754A>C (p.Glu21585Ala)
c.90797A>C (p.Glu30266Ala)
c.86195A>C (p.Glu28732Ala)
c.86192A>C (p.Glu28731Ala)
c.83234A>C (p.Glu27745Ala)
c.64850A>C (p.Glu21617Ala)
c.86345A>C (p.Glu28782Ala)
c.86342A>C (p.Glu28781Ala)
c.85775A>C (p.Glu28592Ala)
c.83117A>C (p.Glu27706Ala)
c.83036A>C (p.Glu27679Ala)
c.64799A>C (p.Glu21600Ala)
c.54653A>C (p.Glu18218Ala)
2g.178549819C>ACA349496065TTN,TTN-AS1c.84199G>T (p.Glu28067Ter)
c.65284G>T (p.Glu21762Ter)
c.65083G>T (p.Glu21695Ter)
c.64708G>T (p.Glu21570Ter)
c.91903G>T (p.Glu30635Ter)
c.86980G>T (p.Glu28994Ter)
n.447-21481C>A
n.2043+7458C>A
c.91000G>T (p.Glu30334Ter)
c.64894G>T (p.Glu21632Ter)
c.64753G>T (p.Glu21585Ter)
c.90796G>T (p.Glu30266Ter)
c.86194G>T (p.Glu28732Ter)
c.86191G>T (p.Glu28731Ter)
c.83233G>T (p.Glu27745Ter)
c.64849G>T (p.Glu21617Ter)
c.86344G>T (p.Glu28782Ter)
c.86341G>T (p.Glu28781Ter)
c.85774G>T (p.Glu28592Ter)
c.83116G>T (p.Glu27706Ter)
c.83035G>T (p.Glu27679Ter)
c.64798G>T (p.Glu21600Ter)
c.54652G>T (p.Glu18218Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178549819C>GCA349496068TTN,TTN-AS1c.84199G>C (p.Glu28067Gln)
c.65284G>C (p.Glu21762Gln)
c.65083G>C (p.Glu21695Gln)
c.64708G>C (p.Glu21570Gln)
c.91903G>C (p.Glu30635Gln)
c.86980G>C (p.Glu28994Gln)
n.447-21481C>G
n.2043+7458C>G
c.91000G>C (p.Glu30334Gln)
c.64894G>C (p.Glu21632Gln)
c.64753G>C (p.Glu21585Gln)
c.90796G>C (p.Glu30266Gln)
c.86194G>C (p.Glu28732Gln)
c.86191G>C (p.Glu28731Gln)
c.83233G>C (p.Glu27745Gln)
c.64849G>C (p.Glu21617Gln)
c.86344G>C (p.Glu28782Gln)
c.86341G>C (p.Glu28781Gln)
c.85774G>C (p.Glu28592Gln)
c.83116G>C (p.Glu27706Gln)
c.83035G>C (p.Glu27679Gln)
c.64798G>C (p.Glu21600Gln)
c.54652G>C (p.Glu18218Gln)
2g.178549819C>TCA349496069TTN,TTN-AS1c.84199G>A (p.Glu28067Lys)
c.65284G>A (p.Glu21762Lys)
c.65083G>A (p.Glu21695Lys)
c.64708G>A (p.Glu21570Lys)
c.91903G>A (p.Glu30635Lys)
c.86980G>A (p.Glu28994Lys)
n.447-21481C>T
n.2043+7458C>T
c.91000G>A (p.Glu30334Lys)
c.64894G>A (p.Glu21632Lys)
c.64753G>A (p.Glu21585Lys)
c.90796G>A (p.Glu30266Lys)
c.86194G>A (p.Glu28732Lys)
c.86191G>A (p.Glu28731Lys)
c.83233G>A (p.Glu27745Lys)
c.64849G>A (p.Glu21617Lys)
c.86344G>A (p.Glu28782Lys)
c.86341G>A (p.Glu28781Lys)
c.85774G>A (p.Glu28592Lys)
c.83116G>A (p.Glu27706Lys)
c.83035G>A (p.Glu27679Lys)
c.64798G>A (p.Glu21600Lys)
c.54652G>A (p.Glu18218Lys)
2g.178549820C>ACA430244844TTN,TTN-AS1c.84198G>T (p.Gly28066=)
c.65283G>T (p.Gly21761=)
c.65082G>T (p.Gly21694=)
c.64707G>T (p.Gly21569=)
c.91902G>T (p.Gly30634=)
c.86979G>T (p.Gly28993=)
n.447-21480C>A
n.2043+7459C>A
c.90999G>T (p.Gly30333=)
c.64893G>T (p.Gly21631=)
c.64752G>T (p.Gly21584=)
c.90795G>T (p.Gly30265=)
c.86193G>T (p.Gly28731=)
c.86190G>T (p.Gly28730=)
c.83232G>T (p.Gly27744=)
c.64848G>T (p.Gly21616=)
c.86343G>T (p.Gly28781=)
c.86340G>T (p.Gly28780=)
c.85773G>T (p.Gly28591=)
c.83115G>T (p.Gly27705=)
c.83034G>T (p.Gly27678=)
c.64797G>T (p.Gly21599=)
c.54651G>T (p.Gly18217=)
 COSMIC COSMIC COSMIC COSMIC
2g.178549820C=CA1310520120TTN,TTN-AS1c.84198G= (p.Gly28066=)
c.65283G= (p.Gly21761=)
c.65082G= (p.Gly21694=)
c.64707G= (p.Gly21569=)
c.91902G= (p.Gly30634=)
c.86979G= (p.Gly28993=)
n.447-21480C=
n.2043+7459C=
c.90999G= (p.Gly30333=)
c.64893G= (p.Gly21631=)
c.64752G= (p.Gly21584=)
c.90795G= (p.Gly30265=)
c.86193G= (p.Gly28731=)
c.86190G= (p.Gly28730=)
c.83232G= (p.Gly27744=)
c.64848G= (p.Gly21616=)
c.86343G= (p.Gly28781=)
c.86340G= (p.Gly28780=)
c.85773G= (p.Gly28591=)
c.83115G= (p.Gly27705=)
c.83034G= (p.Gly27678=)
c.64797G= (p.Gly21599=)
c.54651G= (p.Gly18217=)
2g.178549820C>GCA430244845TTN,TTN-AS1c.84198G>C (p.Gly28066=)
c.65283G>C (p.Gly21761=)
c.65082G>C (p.Gly21694=)
c.64707G>C (p.Gly21569=)
c.91902G>C (p.Gly30634=)
c.86979G>C (p.Gly28993=)
n.447-21480C>G
n.2043+7459C>G
c.90999G>C (p.Gly30333=)
c.64893G>C (p.Gly21631=)
c.64752G>C (p.Gly21584=)
c.90795G>C (p.Gly30265=)
c.86193G>C (p.Gly28731=)
c.86190G>C (p.Gly28730=)
c.83232G>C (p.Gly27744=)
c.64848G>C (p.Gly21616=)
c.86343G>C (p.Gly28781=)
c.86340G>C (p.Gly28780=)
c.85773G>C (p.Gly28591=)
c.83115G>C (p.Gly27705=)
c.83034G>C (p.Gly27678=)
c.64797G>C (p.Gly21599=)
c.54651G>C (p.Gly18217=)
2g.178549820C>TCA430244846TTN,TTN-AS1c.84198G>A (p.Gly28066=)
c.65283G>A (p.Gly21761=)
c.65082G>A (p.Gly21694=)
c.64707G>A (p.Gly21569=)
c.91902G>A (p.Gly30634=)
c.86979G>A (p.Gly28993=)
n.447-21480C>T
n.2043+7459C>T
c.90999G>A (p.Gly30333=)
c.64893G>A (p.Gly21631=)
c.64752G>A (p.Gly21584=)
c.90795G>A (p.Gly30265=)
c.86193G>A (p.Gly28731=)
c.86190G>A (p.Gly28730=)
c.83232G>A (p.Gly27744=)
c.64848G>A (p.Gly21616=)
c.86343G>A (p.Gly28781=)
c.86340G>A (p.Gly28780=)
c.85773G>A (p.Gly28591=)
c.83115G>A (p.Gly27705=)
c.83034G>A (p.Gly27678=)
c.64797G>A (p.Gly21599=)
c.54651G>A (p.Gly18217=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178549821C>ACA349496073TTN,TTN-AS1c.84197G>T (p.Gly28066Val)
c.65282G>T (p.Gly21761Val)
c.65081G>T (p.Gly21694Val)
c.64706G>T (p.Gly21569Val)
c.91901G>T (p.Gly30634Val)
c.86978G>T (p.Gly28993Val)
n.447-21479C>A
n.2043+7460C>A
c.90998G>T (p.Gly30333Val)
c.64892G>T (p.Gly21631Val)
c.64751G>T (p.Gly21584Val)
c.90794G>T (p.Gly30265Val)
c.86192G>T (p.Gly28731Val)
c.86189G>T (p.Gly28730Val)
c.83231G>T (p.Gly27744Val)
c.64847G>T (p.Gly21616Val)
c.86342G>T (p.Gly28781Val)
c.86339G>T (p.Gly28780Val)
c.85772G>T (p.Gly28591Val)
c.83114G>T (p.Gly27705Val)
c.83033G>T (p.Gly27678Val)
c.64796G>T (p.Gly21599Val)
c.54650G>T (p.Gly18217Val)
2g.178549821C=CA1310520121TTN,TTN-AS1c.84197G= (p.Gly28066=)
c.65282G= (p.Gly21761=)
c.65081G= (p.Gly21694=)
c.64706G= (p.Gly21569=)
c.91901G= (p.Gly30634=)
c.86978G= (p.Gly28993=)
n.447-21479C=
n.2043+7460C=
c.90998G= (p.Gly30333=)
c.64892G= (p.Gly21631=)
c.64751G= (p.Gly21584=)
c.90794G= (p.Gly30265=)
c.86192G= (p.Gly28731=)
c.86189G= (p.Gly28730=)
c.83231G= (p.Gly27744=)
c.64847G= (p.Gly21616=)
c.86342G= (p.Gly28781=)
c.86339G= (p.Gly28780=)
c.85772G= (p.Gly28591=)
c.83114G= (p.Gly27705=)
c.83033G= (p.Gly27678=)
c.64796G= (p.Gly21599=)
c.54650G= (p.Gly18217=)
2g.178549821C>GCA349496076TTN,TTN-AS1c.84197G>C (p.Gly28066Ala)
c.65282G>C (p.Gly21761Ala)
c.65081G>C (p.Gly21694Ala)
c.64706G>C (p.Gly21569Ala)
c.91901G>C (p.Gly30634Ala)
c.86978G>C (p.Gly28993Ala)
n.447-21479C>G
n.2043+7460C>G
c.90998G>C (p.Gly30333Ala)
c.64892G>C (p.Gly21631Ala)
c.64751G>C (p.Gly21584Ala)
c.90794G>C (p.Gly30265Ala)
c.86192G>C (p.Gly28731Ala)
c.86189G>C (p.Gly28730Ala)
c.83231G>C (p.Gly27744Ala)
c.64847G>C (p.Gly21616Ala)
c.86342G>C (p.Gly28781Ala)
c.86339G>C (p.Gly28780Ala)
c.85772G>C (p.Gly28591Ala)
c.83114G>C (p.Gly27705Ala)
c.83033G>C (p.Gly27678Ala)
c.64796G>C (p.Gly21599Ala)
c.54650G>C (p.Gly18217Ala)
2g.178549821C>TCA1987534TTN,TTN-AS1c.84197G>A (p.Gly28066Glu)
c.65282G>A (p.Gly21761Glu)
c.65081G>A (p.Gly21694Glu)
c.64706G>A (p.Gly21569Glu)
c.91901G>A (p.Gly30634Glu)
c.86978G>A (p.Gly28993Glu)
n.447-21479C>T
n.2043+7460C>T
c.90998G>A (p.Gly30333Glu)
c.64892G>A (p.Gly21631Glu)
c.64751G>A (p.Gly21584Glu)
c.90794G>A (p.Gly30265Glu)
c.86192G>A (p.Gly28731Glu)
c.86189G>A (p.Gly28730Glu)
c.83231G>A (p.Gly27744Glu)
c.64847G>A (p.Gly21616Glu)
c.86342G>A (p.Gly28781Glu)
c.86339G>A (p.Gly28780Glu)
c.85772G>A (p.Gly28591Glu)
c.83114G>A (p.Gly27705Glu)
c.83033G>A (p.Gly27678Glu)
c.64796G>A (p.Gly21599Glu)
c.54650G>A (p.Gly18217Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549822C>ACA349496079TTN,TTN-AS1c.84196G>T (p.Gly28066Trp)
c.65281G>T (p.Gly21761Trp)
c.65080G>T (p.Gly21694Trp)
c.64705G>T (p.Gly21569Trp)
c.91900G>T (p.Gly30634Trp)
c.86977G>T (p.Gly28993Trp)
n.447-21478C>A
n.2043+7461C>A
c.90997G>T (p.Gly30333Trp)
c.64891G>T (p.Gly21631Trp)
c.64750G>T (p.Gly21584Trp)
c.90793G>T (p.Gly30265Trp)
c.86191G>T (p.Gly28731Trp)
c.86188G>T (p.Gly28730Trp)
c.83230G>T (p.Gly27744Trp)
c.64846G>T (p.Gly21616Trp)
c.86341G>T (p.Gly28781Trp)
c.86338G>T (p.Gly28780Trp)
c.85771G>T (p.Gly28591Trp)
c.83113G>T (p.Gly27705Trp)
c.83032G>T (p.Gly27678Trp)
c.64795G>T (p.Gly21599Trp)
c.54649G>T (p.Gly18217Trp)
2g.178549822C>GCA349496086TTN,TTN-AS1c.84196G>C (p.Gly28066Arg)
c.65281G>C (p.Gly21761Arg)
c.65080G>C (p.Gly21694Arg)
c.64705G>C (p.Gly21569Arg)
c.91900G>C (p.Gly30634Arg)
c.86977G>C (p.Gly28993Arg)
n.447-21478C>G
n.2043+7461C>G
c.90997G>C (p.Gly30333Arg)
c.64891G>C (p.Gly21631Arg)
c.64750G>C (p.Gly21584Arg)
c.90793G>C (p.Gly30265Arg)
c.86191G>C (p.Gly28731Arg)
c.86188G>C (p.Gly28730Arg)
c.83230G>C (p.Gly27744Arg)
c.64846G>C (p.Gly21616Arg)
c.86341G>C (p.Gly28781Arg)
c.86338G>C (p.Gly28780Arg)
c.85771G>C (p.Gly28591Arg)
c.83113G>C (p.Gly27705Arg)
c.83032G>C (p.Gly27678Arg)
c.64795G>C (p.Gly21599Arg)
c.54649G>C (p.Gly18217Arg)
2g.178549822C>TCA349496081TTN,TTN-AS1c.84196G>A (p.Gly28066Arg)
c.65281G>A (p.Gly21761Arg)
c.65080G>A (p.Gly21694Arg)
c.64705G>A (p.Gly21569Arg)
c.91900G>A (p.Gly30634Arg)
c.86977G>A (p.Gly28993Arg)
n.447-21478C>T
n.2043+7461C>T
c.90997G>A (p.Gly30333Arg)
c.64891G>A (p.Gly21631Arg)
c.64750G>A (p.Gly21584Arg)
c.90793G>A (p.Gly30265Arg)
c.86191G>A (p.Gly28731Arg)
c.86188G>A (p.Gly28730Arg)
c.83230G>A (p.Gly27744Arg)
c.64846G>A (p.Gly21616Arg)
c.86341G>A (p.Gly28781Arg)
c.86338G>A (p.Gly28780Arg)
c.85771G>A (p.Gly28591Arg)
c.83113G>A (p.Gly27705Arg)
c.83032G>A (p.Gly27678Arg)
c.64795G>A (p.Gly21599Arg)
c.54649G>A (p.Gly18217Arg)
2g.178549823A=CA1310520122TTN,TTN-AS1c.84195T= (p.Thr28065=)
c.65280T= (p.Thr21760=)
c.65079T= (p.Thr21693=)
c.64704T= (p.Thr21568=)
c.91899T= (p.Thr30633=)
c.86976T= (p.Thr28992=)
n.447-21477A=
n.2043+7462A=
c.90996T= (p.Thr30332=)
c.64890T= (p.Thr21630=)
c.64749T= (p.Thr21583=)
c.90792T= (p.Thr30264=)
c.86190T= (p.Thr28730=)
c.86187T= (p.Thr28729=)
c.83229T= (p.Thr27743=)
c.64845T= (p.Thr21615=)
c.86340T= (p.Thr28780=)
c.86337T= (p.Thr28779=)
c.85770T= (p.Thr28590=)
c.83112T= (p.Thr27704=)
c.83031T= (p.Thr27677=)
c.64794T= (p.Thr21598=)
c.54648T= (p.Thr18216=)
2g.178549823A>CCA430244847TTN,TTN-AS1c.84195T>G (p.Thr28065=)
c.65280T>G (p.Thr21760=)
c.65079T>G (p.Thr21693=)
c.64704T>G (p.Thr21568=)
c.91899T>G (p.Thr30633=)
c.86976T>G (p.Thr28992=)
n.447-21477A>C
n.2043+7462A>C
c.90996T>G (p.Thr30332=)
c.64890T>G (p.Thr21630=)
c.64749T>G (p.Thr21583=)
c.90792T>G (p.Thr30264=)
c.86190T>G (p.Thr28730=)
c.86187T>G (p.Thr28729=)
c.83229T>G (p.Thr27743=)
c.64845T>G (p.Thr21615=)
c.86340T>G (p.Thr28780=)
c.86337T>G (p.Thr28779=)
c.85770T>G (p.Thr28590=)
c.83112T>G (p.Thr27704=)
c.83031T>G (p.Thr27677=)
c.64794T>G (p.Thr21598=)
c.54648T>G (p.Thr18216=)
2g.178549823A>GCA430244848TTN,TTN-AS1c.84195T>C (p.Thr28065=)
c.65280T>C (p.Thr21760=)
c.65079T>C (p.Thr21693=)
c.64704T>C (p.Thr21568=)
c.91899T>C (p.Thr30633=)
c.86976T>C (p.Thr28992=)
n.447-21477A>G
n.2043+7462A>G
c.90996T>C (p.Thr30332=)
c.64890T>C (p.Thr21630=)
c.64749T>C (p.Thr21583=)
c.90792T>C (p.Thr30264=)
c.86190T>C (p.Thr28730=)
c.86187T>C (p.Thr28729=)
c.83229T>C (p.Thr27743=)
c.64845T>C (p.Thr21615=)
c.86340T>C (p.Thr28780=)
c.86337T>C (p.Thr28779=)
c.85770T>C (p.Thr28590=)
c.83112T>C (p.Thr27704=)
c.83031T>C (p.Thr27677=)
c.64794T>C (p.Thr21598=)
c.54648T>C (p.Thr18216=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178549823A>TCA430244849TTN,TTN-AS1c.84195T>A (p.Thr28065=)
c.65280T>A (p.Thr21760=)
c.65079T>A (p.Thr21693=)
c.64704T>A (p.Thr21568=)
c.91899T>A (p.Thr30633=)
c.86976T>A (p.Thr28992=)
n.447-21477A>T
n.2043+7462A>T
c.90996T>A (p.Thr30332=)
c.64890T>A (p.Thr21630=)
c.64749T>A (p.Thr21583=)
c.90792T>A (p.Thr30264=)
c.86190T>A (p.Thr28730=)
c.86187T>A (p.Thr28729=)
c.83229T>A (p.Thr27743=)
c.64845T>A (p.Thr21615=)
c.86340T>A (p.Thr28780=)
c.86337T>A (p.Thr28779=)
c.85770T>A (p.Thr28590=)
c.83112T>A (p.Thr27704=)
c.83031T>A (p.Thr27677=)
c.64794T>A (p.Thr21598=)
c.54648T>A (p.Thr18216=)
2g.178549824G>ACA349496090TTN,TTN-AS1c.84194C>T (p.Thr28065Ile)
c.65279C>T (p.Thr21760Ile)
c.65078C>T (p.Thr21693Ile)
c.64703C>T (p.Thr21568Ile)
c.91898C>T (p.Thr30633Ile)
c.86975C>T (p.Thr28992Ile)
n.447-21476G>A
n.2043+7463G>A
c.90995C>T (p.Thr30332Ile)
c.64889C>T (p.Thr21630Ile)
c.64748C>T (p.Thr21583Ile)
c.90791C>T (p.Thr30264Ile)
c.86189C>T (p.Thr28730Ile)
c.86186C>T (p.Thr28729Ile)
c.83228C>T (p.Thr27743Ile)
c.64844C>T (p.Thr21615Ile)
c.86339C>T (p.Thr28780Ile)
c.86336C>T (p.Thr28779Ile)
c.85769C>T (p.Thr28590Ile)
c.83111C>T (p.Thr27704Ile)
c.83030C>T (p.Thr27677Ile)
c.64793C>T (p.Thr21598Ile)
c.54647C>T (p.Thr18216Ile)
 ClinVar dbSNP gnomAD v4
2g.178549824G>CCA1987535TTN,TTN-AS1c.84194C>G (p.Thr28065Ser)
c.65279C>G (p.Thr21760Ser)
c.65078C>G (p.Thr21693Ser)
c.64703C>G (p.Thr21568Ser)
c.91898C>G (p.Thr30633Ser)
c.86975C>G (p.Thr28992Ser)
n.447-21476G>C
n.2043+7463G>C
c.90995C>G (p.Thr30332Ser)
c.64889C>G (p.Thr21630Ser)
c.64748C>G (p.Thr21583Ser)
c.90791C>G (p.Thr30264Ser)
c.86189C>G (p.Thr28730Ser)
c.86186C>G (p.Thr28729Ser)
c.83228C>G (p.Thr27743Ser)
c.64844C>G (p.Thr21615Ser)
c.86339C>G (p.Thr28780Ser)
c.86336C>G (p.Thr28779Ser)
c.85769C>G (p.Thr28590Ser)
c.83111C>G (p.Thr27704Ser)
c.83030C>G (p.Thr27677Ser)
c.64793C>G (p.Thr21598Ser)
c.54647C>G (p.Thr18216Ser)
 dbSNP ExAC gnomAD v2
2g.178549824G=CA1310520123TTN,TTN-AS1c.84194C= (p.Thr28065=)
c.65279C= (p.Thr21760=)
c.65078C= (p.Thr21693=)
c.64703C= (p.Thr21568=)
c.91898C= (p.Thr30633=)
c.86975C= (p.Thr28992=)
n.447-21476G=
n.2043+7463G=
c.90995C= (p.Thr30332=)
c.64889C= (p.Thr21630=)
c.64748C= (p.Thr21583=)
c.90791C= (p.Thr30264=)
c.86189C= (p.Thr28730=)
c.86186C= (p.Thr28729=)
c.83228C= (p.Thr27743=)
c.64844C= (p.Thr21615=)
c.86339C= (p.Thr28780=)
c.86336C= (p.Thr28779=)
c.85769C= (p.Thr28590=)
c.83111C= (p.Thr27704=)
c.83030C= (p.Thr27677=)
c.64793C= (p.Thr21598=)
c.54647C= (p.Thr18216=)
2g.178549824G>TCA60974935TTN,TTN-AS1c.84194C>A (p.Thr28065Asn)
c.65279C>A (p.Thr21760Asn)
c.65078C>A (p.Thr21693Asn)
c.64703C>A (p.Thr21568Asn)
c.91898C>A (p.Thr30633Asn)
c.86975C>A (p.Thr28992Asn)
n.447-21476G>T
n.2043+7463G>T
c.90995C>A (p.Thr30332Asn)
c.64889C>A (p.Thr21630Asn)
c.64748C>A (p.Thr21583Asn)
c.90791C>A (p.Thr30264Asn)
c.86189C>A (p.Thr28730Asn)
c.86186C>A (p.Thr28729Asn)
c.83228C>A (p.Thr27743Asn)
c.64844C>A (p.Thr21615Asn)
c.86339C>A (p.Thr28780Asn)
c.86336C>A (p.Thr28779Asn)
c.85769C>A (p.Thr28590Asn)
c.83111C>A (p.Thr27704Asn)
c.83030C>A (p.Thr27677Asn)
c.64793C>A (p.Thr21598Asn)
c.54647C>A (p.Thr18216Asn)
 dbSNP gnomAD v4
2g.178549825T>ACA349496102TTN,TTN-AS1c.84193A>T (p.Thr28065Ser)
c.65278A>T (p.Thr21760Ser)
c.65077A>T (p.Thr21693Ser)
c.64702A>T (p.Thr21568Ser)
c.91897A>T (p.Thr30633Ser)
c.86974A>T (p.Thr28992Ser)
n.447-21475T>A
n.2043+7464T>A
c.90994A>T (p.Thr30332Ser)
c.64888A>T (p.Thr21630Ser)
c.64747A>T (p.Thr21583Ser)
c.90790A>T (p.Thr30264Ser)
c.86188A>T (p.Thr28730Ser)
c.86185A>T (p.Thr28729Ser)
c.83227A>T (p.Thr27743Ser)
c.64843A>T (p.Thr21615Ser)
c.86338A>T (p.Thr28780Ser)
c.86335A>T (p.Thr28779Ser)
c.85768A>T (p.Thr28590Ser)
c.83110A>T (p.Thr27704Ser)
c.83029A>T (p.Thr27677Ser)
c.64792A>T (p.Thr21598Ser)
c.54646A>T (p.Thr18216Ser)
2g.178549825T>CCA349496119TTN,TTN-AS1c.84193A>G (p.Thr28065Ala)
c.65278A>G (p.Thr21760Ala)
c.65077A>G (p.Thr21693Ala)
c.64702A>G (p.Thr21568Ala)
c.91897A>G (p.Thr30633Ala)
c.86974A>G (p.Thr28992Ala)
n.447-21475T>C
n.2043+7464T>C
c.90994A>G (p.Thr30332Ala)
c.64888A>G (p.Thr21630Ala)
c.64747A>G (p.Thr21583Ala)
c.90790A>G (p.Thr30264Ala)
c.86188A>G (p.Thr28730Ala)
c.86185A>G (p.Thr28729Ala)
c.83227A>G (p.Thr27743Ala)
c.64843A>G (p.Thr21615Ala)
c.86338A>G (p.Thr28780Ala)
c.86335A>G (p.Thr28779Ala)
c.85768A>G (p.Thr28590Ala)
c.83110A>G (p.Thr27704Ala)
c.83029A>G (p.Thr27677Ala)
c.64792A>G (p.Thr21598Ala)
c.54646A>G (p.Thr18216Ala)
 dbSNP
2g.178549825T>GCA349496105TTN,TTN-AS1c.84193A>C (p.Thr28065Pro)
c.65278A>C (p.Thr21760Pro)
c.65077A>C (p.Thr21693Pro)
c.64702A>C (p.Thr21568Pro)
c.91897A>C (p.Thr30633Pro)
c.86974A>C (p.Thr28992Pro)
n.447-21475T>G
n.2043+7464T>G
c.90994A>C (p.Thr30332Pro)
c.64888A>C (p.Thr21630Pro)
c.64747A>C (p.Thr21583Pro)
c.90790A>C (p.Thr30264Pro)
c.86188A>C (p.Thr28730Pro)
c.86185A>C (p.Thr28729Pro)
c.83227A>C (p.Thr27743Pro)
c.64843A>C (p.Thr21615Pro)
c.86338A>C (p.Thr28780Pro)
c.86335A>C (p.Thr28779Pro)
c.85768A>C (p.Thr28590Pro)
c.83110A>C (p.Thr27704Pro)
c.83029A>C (p.Thr27677Pro)
c.64792A>C (p.Thr21598Pro)
c.54646A>C (p.Thr18216Pro)
2g.178549826A>CCA349496122TTN,TTN-AS1c.84192T>G (p.Ile28064Met)
c.65277T>G (p.Ile21759Met)
c.65076T>G (p.Ile21692Met)
c.64701T>G (p.Ile21567Met)
c.91896T>G (p.Ile30632Met)
c.86973T>G (p.Ile28991Met)
n.447-21474A>C
n.2043+7465A>C
c.90993T>G (p.Ile30331Met)
c.64887T>G (p.Ile21629Met)
c.64746T>G (p.Ile21582Met)
c.90789T>G (p.Ile30263Met)
c.86187T>G (p.Ile28729Met)
c.86184T>G (p.Ile28728Met)
c.83226T>G (p.Ile27742Met)
c.64842T>G (p.Ile21614Met)
c.86337T>G (p.Ile28779Met)
c.86334T>G (p.Ile28778Met)
c.85767T>G (p.Ile28589Met)
c.83109T>G (p.Ile27703Met)
c.83028T>G (p.Ile27676Met)
c.64791T>G (p.Ile21597Met)
c.54645T>G (p.Ile18215Met)
2g.178549826A>GCA430244850TTN,TTN-AS1c.84192T>C (p.Ile28064=)
c.65277T>C (p.Ile21759=)
c.65076T>C (p.Ile21692=)
c.64701T>C (p.Ile21567=)
c.91896T>C (p.Ile30632=)
c.86973T>C (p.Ile28991=)
n.447-21474A>G
n.2043+7465A>G
c.90993T>C (p.Ile30331=)
c.64887T>C (p.Ile21629=)
c.64746T>C (p.Ile21582=)
c.90789T>C (p.Ile30263=)
c.86187T>C (p.Ile28729=)
c.86184T>C (p.Ile28728=)
c.83226T>C (p.Ile27742=)
c.64842T>C (p.Ile21614=)
c.86337T>C (p.Ile28779=)
c.86334T>C (p.Ile28778=)
c.85767T>C (p.Ile28589=)
c.83109T>C (p.Ile27703=)
c.83028T>C (p.Ile27676=)
c.64791T>C (p.Ile21597=)
c.54645T>C (p.Ile18215=)
2g.178549826A>TCA430244851TTN,TTN-AS1c.84192T>A (p.Ile28064=)
c.65277T>A (p.Ile21759=)
c.65076T>A (p.Ile21692=)
c.64701T>A (p.Ile21567=)
c.91896T>A (p.Ile30632=)
c.86973T>A (p.Ile28991=)
n.447-21474A>T
n.2043+7465A>T
c.90993T>A (p.Ile30331=)
c.64887T>A (p.Ile21629=)
c.64746T>A (p.Ile21582=)
c.90789T>A (p.Ile30263=)
c.86187T>A (p.Ile28729=)
c.86184T>A (p.Ile28728=)
c.83226T>A (p.Ile27742=)
c.64842T>A (p.Ile21614=)
c.86337T>A (p.Ile28779=)
c.86334T>A (p.Ile28778=)
c.85767T>A (p.Ile28589=)
c.83109T>A (p.Ile27703=)
c.83028T>A (p.Ile27676=)
c.64791T>A (p.Ile21597=)
c.54645T>A (p.Ile18215=)
2g.178549827A=CA1310520124TTN,TTN-AS1c.84191T= (p.Ile28064=)
c.65276T= (p.Ile21759=)
c.65075T= (p.Ile21692=)
c.64700T= (p.Ile21567=)
c.91895T= (p.Ile30632=)
c.86972T= (p.Ile28991=)
n.447-21473A=
n.2043+7466A=
c.90992T= (p.Ile30331=)
c.64886T= (p.Ile21629=)
c.64745T= (p.Ile21582=)
c.90788T= (p.Ile30263=)
c.86186T= (p.Ile28729=)
c.86183T= (p.Ile28728=)
c.83225T= (p.Ile27742=)
c.64841T= (p.Ile21614=)
c.86336T= (p.Ile28779=)
c.86333T= (p.Ile28778=)
c.85766T= (p.Ile28589=)
c.83108T= (p.Ile27703=)
c.83027T= (p.Ile27676=)
c.64790T= (p.Ile21597=)
c.54644T= (p.Ile18215=)
2g.178549827A>CCA349496125TTN,TTN-AS1c.84191T>G (p.Ile28064Ser)
c.65276T>G (p.Ile21759Ser)
c.65075T>G (p.Ile21692Ser)
c.64700T>G (p.Ile21567Ser)
c.91895T>G (p.Ile30632Ser)
c.86972T>G (p.Ile28991Ser)
n.447-21473A>C
n.2043+7466A>C
c.90992T>G (p.Ile30331Ser)
c.64886T>G (p.Ile21629Ser)
c.64745T>G (p.Ile21582Ser)
c.90788T>G (p.Ile30263Ser)
c.86186T>G (p.Ile28729Ser)
c.86183T>G (p.Ile28728Ser)
c.83225T>G (p.Ile27742Ser)
c.64841T>G (p.Ile21614Ser)
c.86336T>G (p.Ile28779Ser)
c.86333T>G (p.Ile28778Ser)
c.85766T>G (p.Ile28589Ser)
c.83108T>G (p.Ile27703Ser)
c.83027T>G (p.Ile27676Ser)
c.64790T>G (p.Ile21597Ser)
c.54644T>G (p.Ile18215Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178549827A>GCA349496128TTN,TTN-AS1c.84191T>C (p.Ile28064Thr)
c.65276T>C (p.Ile21759Thr)
c.65075T>C (p.Ile21692Thr)
c.64700T>C (p.Ile21567Thr)
c.91895T>C (p.Ile30632Thr)
c.86972T>C (p.Ile28991Thr)
n.447-21473A>G
n.2043+7466A>G
c.90992T>C (p.Ile30331Thr)
c.64886T>C (p.Ile21629Thr)
c.64745T>C (p.Ile21582Thr)
c.90788T>C (p.Ile30263Thr)
c.86186T>C (p.Ile28729Thr)
c.86183T>C (p.Ile28728Thr)
c.83225T>C (p.Ile27742Thr)
c.64841T>C (p.Ile21614Thr)
c.86336T>C (p.Ile28779Thr)
c.86333T>C (p.Ile28778Thr)
c.85766T>C (p.Ile28589Thr)
c.83108T>C (p.Ile27703Thr)
c.83027T>C (p.Ile27676Thr)
c.64790T>C (p.Ile21597Thr)
c.54644T>C (p.Ile18215Thr)
 gnomAD v4
2g.178549827A>TCA349496129TTN,TTN-AS1c.84191T>A (p.Ile28064Asn)
c.65276T>A (p.Ile21759Asn)
c.65075T>A (p.Ile21692Asn)
c.64700T>A (p.Ile21567Asn)
c.91895T>A (p.Ile30632Asn)
c.86972T>A (p.Ile28991Asn)
n.447-21473A>T
n.2043+7466A>T
c.90992T>A (p.Ile30331Asn)
c.64886T>A (p.Ile21629Asn)
c.64745T>A (p.Ile21582Asn)
c.90788T>A (p.Ile30263Asn)
c.86186T>A (p.Ile28729Asn)
c.86183T>A (p.Ile28728Asn)
c.83225T>A (p.Ile27742Asn)
c.64841T>A (p.Ile21614Asn)
c.86336T>A (p.Ile28779Asn)
c.86333T>A (p.Ile28778Asn)
c.85766T>A (p.Ile28589Asn)
c.83108T>A (p.Ile27703Asn)
c.83027T>A (p.Ile27676Asn)
c.64790T>A (p.Ile21597Asn)
c.54644T>A (p.Ile18215Asn)
2g.178549828T>ACA349496134TTN,TTN-AS1c.84190A>T (p.Ile28064Phe)
c.65275A>T (p.Ile21759Phe)
c.65074A>T (p.Ile21692Phe)
c.64699A>T (p.Ile21567Phe)
c.91894A>T (p.Ile30632Phe)
c.86971A>T (p.Ile28991Phe)
n.447-21472T>A
n.2043+7467T>A
c.90991A>T (p.Ile30331Phe)
c.64885A>T (p.Ile21629Phe)
c.64744A>T (p.Ile21582Phe)
c.90787A>T (p.Ile30263Phe)
c.86185A>T (p.Ile28729Phe)
c.86182A>T (p.Ile28728Phe)
c.83224A>T (p.Ile27742Phe)
c.64840A>T (p.Ile21614Phe)
c.86335A>T (p.Ile28779Phe)
c.86332A>T (p.Ile28778Phe)
c.85765A>T (p.Ile28589Phe)
c.83107A>T (p.Ile27703Phe)
c.83026A>T (p.Ile27676Phe)
c.64789A>T (p.Ile21597Phe)
c.54643A>T (p.Ile18215Phe)
2g.178549828T>CCA349496135TTN,TTN-AS1c.84190A>G (p.Ile28064Val)
c.65275A>G (p.Ile21759Val)
c.65074A>G (p.Ile21692Val)
c.64699A>G (p.Ile21567Val)
c.91894A>G (p.Ile30632Val)
c.86971A>G (p.Ile28991Val)
n.447-21472T>C
n.2043+7467T>C
c.90991A>G (p.Ile30331Val)
c.64885A>G (p.Ile21629Val)
c.64744A>G (p.Ile21582Val)
c.90787A>G (p.Ile30263Val)
c.86185A>G (p.Ile28729Val)
c.86182A>G (p.Ile28728Val)
c.83224A>G (p.Ile27742Val)
c.64840A>G (p.Ile21614Val)
c.86335A>G (p.Ile28779Val)
c.86332A>G (p.Ile28778Val)
c.85765A>G (p.Ile28589Val)
c.83107A>G (p.Ile27703Val)
c.83026A>G (p.Ile27676Val)
c.64789A>G (p.Ile21597Val)
c.54643A>G (p.Ile18215Val)
2g.178549828T>GCA349496136TTN,TTN-AS1c.84190A>C (p.Ile28064Leu)
c.65275A>C (p.Ile21759Leu)
c.65074A>C (p.Ile21692Leu)
c.64699A>C (p.Ile21567Leu)
c.91894A>C (p.Ile30632Leu)
c.86971A>C (p.Ile28991Leu)
n.447-21472T>G
n.2043+7467T>G
c.90991A>C (p.Ile30331Leu)
c.64885A>C (p.Ile21629Leu)
c.64744A>C (p.Ile21582Leu)
c.90787A>C (p.Ile30263Leu)
c.86185A>C (p.Ile28729Leu)
c.86182A>C (p.Ile28728Leu)
c.83224A>C (p.Ile27742Leu)
c.64840A>C (p.Ile21614Leu)
c.86335A>C (p.Ile28779Leu)
c.86332A>C (p.Ile28778Leu)
c.85765A>C (p.Ile28589Leu)
c.83107A>C (p.Ile27703Leu)
c.83026A>C (p.Ile27676Leu)
c.64789A>C (p.Ile21597Leu)
c.54643A>C (p.Ile18215Leu)
2g.178549829A=CA1310520125TTN,TTN-AS1c.84189T= (p.Asn28063=)
c.65274T= (p.Asn21758=)
c.65073T= (p.Asn21691=)
c.64698T= (p.Asn21566=)
c.91893T= (p.Asn30631=)
c.86970T= (p.Asn28990=)
n.447-21471A=
n.2043+7468A=
c.90990T= (p.Asn30330=)
c.64884T= (p.Asn21628=)
c.64743T= (p.Asn21581=)
c.90786T= (p.Asn30262=)
c.86184T= (p.Asn28728=)
c.86181T= (p.Asn28727=)
c.83223T= (p.Asn27741=)
c.64839T= (p.Asn21613=)
c.86334T= (p.Asn28778=)
c.86331T= (p.Asn28777=)
c.85764T= (p.Asn28588=)
c.83106T= (p.Asn27702=)
c.83025T= (p.Asn27675=)
c.64788T= (p.Asn21596=)
c.54642T= (p.Asn18214=)
2g.178549829A>CCA349496137TTN,TTN-AS1c.84189T>G (p.Asn28063Lys)
c.65274T>G (p.Asn21758Lys)
c.65073T>G (p.Asn21691Lys)
c.64698T>G (p.Asn21566Lys)
c.91893T>G (p.Asn30631Lys)
c.86970T>G (p.Asn28990Lys)
n.447-21471A>C
n.2043+7468A>C
c.90990T>G (p.Asn30330Lys)
c.64884T>G (p.Asn21628Lys)
c.64743T>G (p.Asn21581Lys)
c.90786T>G (p.Asn30262Lys)
c.86184T>G (p.Asn28728Lys)
c.86181T>G (p.Asn28727Lys)
c.83223T>G (p.Asn27741Lys)
c.64839T>G (p.Asn21613Lys)
c.86334T>G (p.Asn28778Lys)
c.86331T>G (p.Asn28777Lys)
c.85764T>G (p.Asn28588Lys)
c.83106T>G (p.Asn27702Lys)
c.83025T>G (p.Asn27675Lys)
c.64788T>G (p.Asn21596Lys)
c.54642T>G (p.Asn18214Lys)
2g.178549829A>GCA1987536TTN,TTN-AS1c.84189T>C (p.Asn28063=)
c.65274T>C (p.Asn21758=)
c.65073T>C (p.Asn21691=)
c.64698T>C (p.Asn21566=)
c.91893T>C (p.Asn30631=)
c.86970T>C (p.Asn28990=)
n.447-21471A>G
n.2043+7468A>G
c.90990T>C (p.Asn30330=)
c.64884T>C (p.Asn21628=)
c.64743T>C (p.Asn21581=)
c.90786T>C (p.Asn30262=)
c.86184T>C (p.Asn28728=)
c.86181T>C (p.Asn28727=)
c.83223T>C (p.Asn27741=)
c.64839T>C (p.Asn21613=)
c.86334T>C (p.Asn28778=)
c.86331T>C (p.Asn28777=)
c.85764T>C (p.Asn28588=)
c.83106T>C (p.Asn27702=)
c.83025T>C (p.Asn27675=)
c.64788T>C (p.Asn21596=)
c.54642T>C (p.Asn18214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549829A>TCA349496139TTN,TTN-AS1c.84189T>A (p.Asn28063Lys)
c.65274T>A (p.Asn21758Lys)
c.65073T>A (p.Asn21691Lys)
c.64698T>A (p.Asn21566Lys)
c.91893T>A (p.Asn30631Lys)
c.86970T>A (p.Asn28990Lys)
n.447-21471A>T
n.2043+7468A>T
c.90990T>A (p.Asn30330Lys)
c.64884T>A (p.Asn21628Lys)
c.64743T>A (p.Asn21581Lys)
c.90786T>A (p.Asn30262Lys)
c.86184T>A (p.Asn28728Lys)
c.86181T>A (p.Asn28727Lys)
c.83223T>A (p.Asn27741Lys)
c.64839T>A (p.Asn21613Lys)
c.86334T>A (p.Asn28778Lys)
c.86331T>A (p.Asn28777Lys)
c.85764T>A (p.Asn28588Lys)
c.83106T>A (p.Asn27702Lys)
c.83025T>A (p.Asn27675Lys)
c.64788T>A (p.Asn21596Lys)
c.54642T>A (p.Asn18214Lys)
2g.178549830T>ACA349496154TTN,TTN-AS1c.84188A>T (p.Asn28063Ile)
c.65273A>T (p.Asn21758Ile)
c.65072A>T (p.Asn21691Ile)
c.64697A>T (p.Asn21566Ile)
c.91892A>T (p.Asn30631Ile)
c.86969A>T (p.Asn28990Ile)
n.447-21470T>A
n.2043+7469T>A
c.90989A>T (p.Asn30330Ile)
c.64883A>T (p.Asn21628Ile)
c.64742A>T (p.Asn21581Ile)
c.90785A>T (p.Asn30262Ile)
c.86183A>T (p.Asn28728Ile)
c.86180A>T (p.Asn28727Ile)
c.83222A>T (p.Asn27741Ile)
c.64838A>T (p.Asn21613Ile)
c.86333A>T (p.Asn28778Ile)
c.86330A>T (p.Asn28777Ile)
c.85763A>T (p.Asn28588Ile)
c.83105A>T (p.Asn27702Ile)
c.83024A>T (p.Asn27675Ile)
c.64787A>T (p.Asn21596Ile)
c.54641A>T (p.Asn18214Ile)
 gnomAD v4
2g.178549830T>CCA1987537TTN,TTN-AS1c.84188A>G (p.Asn28063Ser)
c.65273A>G (p.Asn21758Ser)
c.65072A>G (p.Asn21691Ser)
c.64697A>G (p.Asn21566Ser)
c.91892A>G (p.Asn30631Ser)
c.86969A>G (p.Asn28990Ser)
n.447-21470T>C
n.2043+7469T>C
c.90989A>G (p.Asn30330Ser)
c.64883A>G (p.Asn21628Ser)
c.64742A>G (p.Asn21581Ser)
c.90785A>G (p.Asn30262Ser)
c.86183A>G (p.Asn28728Ser)
c.86180A>G (p.Asn28727Ser)
c.83222A>G (p.Asn27741Ser)
c.64838A>G (p.Asn21613Ser)
c.86333A>G (p.Asn28778Ser)
c.86330A>G (p.Asn28777Ser)
c.85763A>G (p.Asn28588Ser)
c.83105A>G (p.Asn27702Ser)
c.83024A>G (p.Asn27675Ser)
c.64787A>G (p.Asn21596Ser)
c.54641A>G (p.Asn18214Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549830T>GCA349496141TTN,TTN-AS1c.84188A>C (p.Asn28063Thr)
c.65273A>C (p.Asn21758Thr)
c.65072A>C (p.Asn21691Thr)
c.64697A>C (p.Asn21566Thr)
c.91892A>C (p.Asn30631Thr)
c.86969A>C (p.Asn28990Thr)
n.447-21470T>G
n.2043+7469T>G
c.90989A>C (p.Asn30330Thr)
c.64883A>C (p.Asn21628Thr)
c.64742A>C (p.Asn21581Thr)
c.90785A>C (p.Asn30262Thr)
c.86183A>C (p.Asn28728Thr)
c.86180A>C (p.Asn28727Thr)
c.83222A>C (p.Asn27741Thr)
c.64838A>C (p.Asn21613Thr)
c.86333A>C (p.Asn28778Thr)
c.86330A>C (p.Asn28777Thr)
c.85763A>C (p.Asn28588Thr)
c.83105A>C (p.Asn27702Thr)
c.83024A>C (p.Asn27675Thr)
c.64787A>C (p.Asn21596Thr)
c.54641A>C (p.Asn18214Thr)
2g.178549830T=CA1310520126TTN,TTN-AS1c.84188A= (p.Asn28063=)
c.65273A= (p.Asn21758=)
c.65072A= (p.Asn21691=)
c.64697A= (p.Asn21566=)
c.91892A= (p.Asn30631=)
c.86969A= (p.Asn28990=)
n.447-21470T=
n.2043+7469T=
c.90989A= (p.Asn30330=)
c.64883A= (p.Asn21628=)
c.64742A= (p.Asn21581=)
c.90785A= (p.Asn30262=)
c.86183A= (p.Asn28728=)
c.86180A= (p.Asn28727=)
c.83222A= (p.Asn27741=)
c.64838A= (p.Asn21613=)
c.86333A= (p.Asn28778=)
c.86330A= (p.Asn28777=)
c.85763A= (p.Asn28588=)
c.83105A= (p.Asn27702=)
c.83024A= (p.Asn27675=)
c.64787A= (p.Asn21596=)
c.54641A= (p.Asn18214=)
2g.178549831T>ACA349496162TTN,TTN-AS1c.84187A>T (p.Asn28063Tyr)
c.65272A>T (p.Asn21758Tyr)
c.65071A>T (p.Asn21691Tyr)
c.64696A>T (p.Asn21566Tyr)
c.91891A>T (p.Asn30631Tyr)
c.86968A>T (p.Asn28990Tyr)
n.447-21469T>A
n.2043+7470T>A
c.90988A>T (p.Asn30330Tyr)
c.64882A>T (p.Asn21628Tyr)
c.64741A>T (p.Asn21581Tyr)
c.90784A>T (p.Asn30262Tyr)
c.86182A>T (p.Asn28728Tyr)
c.86179A>T (p.Asn28727Tyr)
c.83221A>T (p.Asn27741Tyr)
c.64837A>T (p.Asn21613Tyr)
c.86332A>T (p.Asn28778Tyr)
c.86329A>T (p.Asn28777Tyr)
c.85762A>T (p.Asn28588Tyr)
c.83104A>T (p.Asn27702Tyr)
c.83023A>T (p.Asn27675Tyr)
c.64786A>T (p.Asn21596Tyr)
c.54640A>T (p.Asn18214Tyr)
2g.178549831T>CCA349496165TTN,TTN-AS1c.84187A>G (p.Asn28063Asp)
c.65272A>G (p.Asn21758Asp)
c.65071A>G (p.Asn21691Asp)
c.64696A>G (p.Asn21566Asp)
c.91891A>G (p.Asn30631Asp)
c.86968A>G (p.Asn28990Asp)
n.447-21469T>C
n.2043+7470T>C
c.90988A>G (p.Asn30330Asp)
c.64882A>G (p.Asn21628Asp)
c.64741A>G (p.Asn21581Asp)
c.90784A>G (p.Asn30262Asp)
c.86182A>G (p.Asn28728Asp)
c.86179A>G (p.Asn28727Asp)
c.83221A>G (p.Asn27741Asp)
c.64837A>G (p.Asn21613Asp)
c.86332A>G (p.Asn28778Asp)
c.86329A>G (p.Asn28777Asp)
c.85762A>G (p.Asn28588Asp)
c.83104A>G (p.Asn27702Asp)
c.83023A>G (p.Asn27675Asp)
c.64786A>G (p.Asn21596Asp)
c.54640A>G (p.Asn18214Asp)
2g.178549831T>GCA349496166TTN,TTN-AS1c.84187A>C (p.Asn28063His)
c.65272A>C (p.Asn21758His)
c.65071A>C (p.Asn21691His)
c.64696A>C (p.Asn21566His)
c.91891A>C (p.Asn30631His)
c.86968A>C (p.Asn28990His)
n.447-21469T>G
n.2043+7470T>G
c.90988A>C (p.Asn30330His)
c.64882A>C (p.Asn21628His)
c.64741A>C (p.Asn21581His)
c.90784A>C (p.Asn30262His)
c.86182A>C (p.Asn28728His)
c.86179A>C (p.Asn28727His)
c.83221A>C (p.Asn27741His)
c.64837A>C (p.Asn21613His)
c.86332A>C (p.Asn28778His)
c.86329A>C (p.Asn28777His)
c.85762A>C (p.Asn28588His)
c.83104A>C (p.Asn27702His)
c.83023A>C (p.Asn27675His)
c.64786A>C (p.Asn21596His)
c.54640A>C (p.Asn18214His)
2g.178549832G>ACA430244854TTN,TTN-AS1c.84186C>T (p.Thr28062=)
c.65271C>T (p.Thr21757=)
c.65070C>T (p.Thr21690=)
c.64695C>T (p.Thr21565=)
c.91890C>T (p.Thr30630=)
c.86967C>T (p.Thr28989=)
n.447-21468G>A
n.2043+7471G>A
c.90987C>T (p.Thr30329=)
c.64881C>T (p.Thr21627=)
c.64740C>T (p.Thr21580=)
c.90783C>T (p.Thr30261=)
c.86181C>T (p.Thr28727=)
c.86178C>T (p.Thr28726=)
c.83220C>T (p.Thr27740=)
c.64836C>T (p.Thr21612=)
c.86331C>T (p.Thr28777=)
c.86328C>T (p.Thr28776=)
c.85761C>T (p.Thr28587=)
c.83103C>T (p.Thr27701=)
c.83022C>T (p.Thr27674=)
c.64785C>T (p.Thr21595=)
c.54639C>T (p.Thr18213=)
2g.178549832G>CCA430244853TTN,TTN-AS1c.84186C>G (p.Thr28062=)
c.65271C>G (p.Thr21757=)
c.65070C>G (p.Thr21690=)
c.64695C>G (p.Thr21565=)
c.91890C>G (p.Thr30630=)
c.86967C>G (p.Thr28989=)
n.447-21468G>C
n.2043+7471G>C
c.90987C>G (p.Thr30329=)
c.64881C>G (p.Thr21627=)
c.64740C>G (p.Thr21580=)
c.90783C>G (p.Thr30261=)
c.86181C>G (p.Thr28727=)
c.86178C>G (p.Thr28726=)
c.83220C>G (p.Thr27740=)
c.64836C>G (p.Thr21612=)
c.86331C>G (p.Thr28777=)
c.86328C>G (p.Thr28776=)
c.85761C>G (p.Thr28587=)
c.83103C>G (p.Thr27701=)
c.83022C>G (p.Thr27674=)
c.64785C>G (p.Thr21595=)
c.54639C>G (p.Thr18213=)
2g.178549832G>TCA430244852TTN,TTN-AS1c.84186C>A (p.Thr28062=)
c.65271C>A (p.Thr21757=)
c.65070C>A (p.Thr21690=)
c.64695C>A (p.Thr21565=)
c.91890C>A (p.Thr30630=)
c.86967C>A (p.Thr28989=)
n.447-21468G>T
n.2043+7471G>T
c.90987C>A (p.Thr30329=)
c.64881C>A (p.Thr21627=)
c.64740C>A (p.Thr21580=)
c.90783C>A (p.Thr30261=)
c.86181C>A (p.Thr28727=)
c.86178C>A (p.Thr28726=)
c.83220C>A (p.Thr27740=)
c.64836C>A (p.Thr21612=)
c.86331C>A (p.Thr28777=)
c.86328C>A (p.Thr28776=)
c.85761C>A (p.Thr28587=)
c.83103C>A (p.Thr27701=)
c.83022C>A (p.Thr27674=)
c.64785C>A (p.Thr21595=)
c.54639C>A (p.Thr18213=)
2g.178549833G>ACA349496168TTN,TTN-AS1c.84185C>T (p.Thr28062Ile)
c.65270C>T (p.Thr21757Ile)
c.65069C>T (p.Thr21690Ile)
c.64694C>T (p.Thr21565Ile)
c.91889C>T (p.Thr30630Ile)
c.86966C>T (p.Thr28989Ile)
n.447-21467G>A
n.2043+7472G>A
c.90986C>T (p.Thr30329Ile)
c.64880C>T (p.Thr21627Ile)
c.64739C>T (p.Thr21580Ile)
c.90782C>T (p.Thr30261Ile)
c.86180C>T (p.Thr28727Ile)
c.86177C>T (p.Thr28726Ile)
c.83219C>T (p.Thr27740Ile)
c.64835C>T (p.Thr21612Ile)
c.86330C>T (p.Thr28777Ile)
c.86327C>T (p.Thr28776Ile)
c.85760C>T (p.Thr28587Ile)
c.83102C>T (p.Thr27701Ile)
c.83021C>T (p.Thr27674Ile)
c.64784C>T (p.Thr21595Ile)
c.54638C>T (p.Thr18213Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178549833G>CCA349496170TTN,TTN-AS1c.84185C>G (p.Thr28062Ser)
c.65270C>G (p.Thr21757Ser)
c.65069C>G (p.Thr21690Ser)
c.64694C>G (p.Thr21565Ser)
c.91889C>G (p.Thr30630Ser)
c.86966C>G (p.Thr28989Ser)
n.447-21467G>C
n.2043+7472G>C
c.90986C>G (p.Thr30329Ser)
c.64880C>G (p.Thr21627Ser)
c.64739C>G (p.Thr21580Ser)
c.90782C>G (p.Thr30261Ser)
c.86180C>G (p.Thr28727Ser)
c.86177C>G (p.Thr28726Ser)
c.83219C>G (p.Thr27740Ser)
c.64835C>G (p.Thr21612Ser)
c.86330C>G (p.Thr28777Ser)
c.86327C>G (p.Thr28776Ser)
c.85760C>G (p.Thr28587Ser)
c.83102C>G (p.Thr27701Ser)
c.83021C>G (p.Thr27674Ser)
c.64784C>G (p.Thr21595Ser)
c.54638C>G (p.Thr18213Ser)
2g.178549833G=CA1310520127TTN,TTN-AS1c.84185C= (p.Thr28062=)
c.65270C= (p.Thr21757=)
c.65069C= (p.Thr21690=)
c.64694C= (p.Thr21565=)
c.91889C= (p.Thr30630=)
c.86966C= (p.Thr28989=)
n.447-21467G=
n.2043+7472G=
c.90986C= (p.Thr30329=)
c.64880C= (p.Thr21627=)
c.64739C= (p.Thr21580=)
c.90782C= (p.Thr30261=)
c.86180C= (p.Thr28727=)
c.86177C= (p.Thr28726=)
c.83219C= (p.Thr27740=)
c.64835C= (p.Thr21612=)
c.86330C= (p.Thr28777=)
c.86327C= (p.Thr28776=)
c.85760C= (p.Thr28587=)
c.83102C= (p.Thr27701=)
c.83021C= (p.Thr27674=)
c.64784C= (p.Thr21595=)
c.54638C= (p.Thr18213=)
2g.178549833G>TCA349496172TTN,TTN-AS1c.84185C>A (p.Thr28062Asn)
c.65270C>A (p.Thr21757Asn)
c.65069C>A (p.Thr21690Asn)
c.64694C>A (p.Thr21565Asn)
c.91889C>A (p.Thr30630Asn)
c.86966C>A (p.Thr28989Asn)
n.447-21467G>T
n.2043+7472G>T
c.90986C>A (p.Thr30329Asn)
c.64880C>A (p.Thr21627Asn)
c.64739C>A (p.Thr21580Asn)
c.90782C>A (p.Thr30261Asn)
c.86180C>A (p.Thr28727Asn)
c.86177C>A (p.Thr28726Asn)
c.83219C>A (p.Thr27740Asn)
c.64835C>A (p.Thr21612Asn)
c.86330C>A (p.Thr28777Asn)
c.86327C>A (p.Thr28776Asn)
c.85760C>A (p.Thr28587Asn)
c.83102C>A (p.Thr27701Asn)
c.83021C>A (p.Thr27674Asn)
c.64784C>A (p.Thr21595Asn)
c.54638C>A (p.Thr18213Asn)
2g.178549834T>ACA349496175TTN,TTN-AS1c.84184A>T (p.Thr28062Ser)
c.65269A>T (p.Thr21757Ser)
c.65068A>T (p.Thr21690Ser)
c.64693A>T (p.Thr21565Ser)
c.91888A>T (p.Thr30630Ser)
c.86965A>T (p.Thr28989Ser)
n.447-21466T>A
n.2043+7473T>A
c.90985A>T (p.Thr30329Ser)
c.64879A>T (p.Thr21627Ser)
c.64738A>T (p.Thr21580Ser)
c.90781A>T (p.Thr30261Ser)
c.86179A>T (p.Thr28727Ser)
c.86176A>T (p.Thr28726Ser)
c.83218A>T (p.Thr27740Ser)
c.64834A>T (p.Thr21612Ser)
c.86329A>T (p.Thr28777Ser)
c.86326A>T (p.Thr28776Ser)
c.85759A>T (p.Thr28587Ser)
c.83101A>T (p.Thr27701Ser)
c.83020A>T (p.Thr27674Ser)
c.64783A>T (p.Thr21595Ser)
c.54637A>T (p.Thr18213Ser)
2g.178549834T>CCA349496179TTN,TTN-AS1c.84184A>G (p.Thr28062Ala)
c.65269A>G (p.Thr21757Ala)
c.65068A>G (p.Thr21690Ala)
c.64693A>G (p.Thr21565Ala)
c.91888A>G (p.Thr30630Ala)
c.86965A>G (p.Thr28989Ala)
n.447-21466T>C
n.2043+7473T>C
c.90985A>G (p.Thr30329Ala)
c.64879A>G (p.Thr21627Ala)
c.64738A>G (p.Thr21580Ala)
c.90781A>G (p.Thr30261Ala)
c.86179A>G (p.Thr28727Ala)
c.86176A>G (p.Thr28726Ala)
c.83218A>G (p.Thr27740Ala)
c.64834A>G (p.Thr21612Ala)
c.86329A>G (p.Thr28777Ala)
c.86326A>G (p.Thr28776Ala)
c.85759A>G (p.Thr28587Ala)
c.83101A>G (p.Thr27701Ala)
c.83020A>G (p.Thr27674Ala)
c.64783A>G (p.Thr21595Ala)
c.54637A>G (p.Thr18213Ala)
 gnomAD v4
2g.178549834T>GCA349496185TTN,TTN-AS1c.84184A>C (p.Thr28062Pro)
c.65269A>C (p.Thr21757Pro)
c.65068A>C (p.Thr21690Pro)
c.64693A>C (p.Thr21565Pro)
c.91888A>C (p.Thr30630Pro)
c.86965A>C (p.Thr28989Pro)
n.447-21466T>G
n.2043+7473T>G
c.90985A>C (p.Thr30329Pro)
c.64879A>C (p.Thr21627Pro)
c.64738A>C (p.Thr21580Pro)
c.90781A>C (p.Thr30261Pro)
c.86179A>C (p.Thr28727Pro)
c.86176A>C (p.Thr28726Pro)
c.83218A>C (p.Thr27740Pro)
c.64834A>C (p.Thr21612Pro)
c.86329A>C (p.Thr28777Pro)
c.86326A>C (p.Thr28776Pro)
c.85759A>C (p.Thr28587Pro)
c.83101A>C (p.Thr27701Pro)
c.83020A>C (p.Thr27674Pro)
c.64783A>C (p.Thr21595Pro)
c.54637A>C (p.Thr18213Pro)
2g.178549835G>ACA430244855TTN,TTN-AS1c.84183C>T (p.Phe28061=)
c.65268C>T (p.Phe21756=)
c.65067C>T (p.Phe21689=)
c.64692C>T (p.Phe21564=)
c.91887C>T (p.Phe30629=)
c.86964C>T (p.Phe28988=)
n.447-21465G>A
n.2043+7474G>A
c.90984C>T (p.Phe30328=)
c.64878C>T (p.Phe21626=)
c.64737C>T (p.Phe21579=)
c.90780C>T (p.Phe30260=)
c.86178C>T (p.Phe28726=)
c.86175C>T (p.Phe28725=)
c.83217C>T (p.Phe27739=)
c.64833C>T (p.Phe21611=)
c.86328C>T (p.Phe28776=)
c.86325C>T (p.Phe28775=)
c.85758C>T (p.Phe28586=)
c.83100C>T (p.Phe27700=)
c.83019C>T (p.Phe27673=)
c.64782C>T (p.Phe21594=)
c.54636C>T (p.Phe18212=)
 gnomAD v4
2g.178549835G>CCA349496188TTN,TTN-AS1c.84183C>G (p.Phe28061Leu)
c.65268C>G (p.Phe21756Leu)
c.65067C>G (p.Phe21689Leu)
c.64692C>G (p.Phe21564Leu)
c.91887C>G (p.Phe30629Leu)
c.86964C>G (p.Phe28988Leu)
n.447-21465G>C
n.2043+7474G>C
c.90984C>G (p.Phe30328Leu)
c.64878C>G (p.Phe21626Leu)
c.64737C>G (p.Phe21579Leu)
c.90780C>G (p.Phe30260Leu)
c.86178C>G (p.Phe28726Leu)
c.86175C>G (p.Phe28725Leu)
c.83217C>G (p.Phe27739Leu)
c.64833C>G (p.Phe21611Leu)
c.86328C>G (p.Phe28776Leu)
c.86325C>G (p.Phe28775Leu)
c.85758C>G (p.Phe28586Leu)
c.83100C>G (p.Phe27700Leu)
c.83019C>G (p.Phe27673Leu)
c.64782C>G (p.Phe21594Leu)
c.54636C>G (p.Phe18212Leu)
2g.178549835G>TCA349496197TTN,TTN-AS1c.84183C>A (p.Phe28061Leu)
c.65268C>A (p.Phe21756Leu)
c.65067C>A (p.Phe21689Leu)
c.64692C>A (p.Phe21564Leu)
c.91887C>A (p.Phe30629Leu)
c.86964C>A (p.Phe28988Leu)
n.447-21465G>T
n.2043+7474G>T
c.90984C>A (p.Phe30328Leu)
c.64878C>A (p.Phe21626Leu)
c.64737C>A (p.Phe21579Leu)
c.90780C>A (p.Phe30260Leu)
c.86178C>A (p.Phe28726Leu)
c.86175C>A (p.Phe28725Leu)
c.83217C>A (p.Phe27739Leu)
c.64833C>A (p.Phe21611Leu)
c.86328C>A (p.Phe28776Leu)
c.86325C>A (p.Phe28775Leu)
c.85758C>A (p.Phe28586Leu)
c.83100C>A (p.Phe27700Leu)
c.83019C>A (p.Phe27673Leu)
c.64782C>A (p.Phe21594Leu)
c.54636C>A (p.Phe18212Leu)
2g.178549836A=CA1310520128TTN,TTN-AS1c.84182T= (p.Phe28061=)
c.65267T= (p.Phe21756=)
c.65066T= (p.Phe21689=)
c.64691T= (p.Phe21564=)
c.91886T= (p.Phe30629=)
c.86963T= (p.Phe28988=)
n.447-21464A=
n.2043+7475A=
c.90983T= (p.Phe30328=)
c.64877T= (p.Phe21626=)
c.64736T= (p.Phe21579=)
c.90779T= (p.Phe30260=)
c.86177T= (p.Phe28726=)
c.86174T= (p.Phe28725=)
c.83216T= (p.Phe27739=)
c.64832T= (p.Phe21611=)
c.86327T= (p.Phe28776=)
c.86324T= (p.Phe28775=)
c.85757T= (p.Phe28586=)
c.83099T= (p.Phe27700=)
c.83018T= (p.Phe27673=)
c.64781T= (p.Phe21594=)
c.54635T= (p.Phe18212=)
2g.178549836A>CCA349496202TTN,TTN-AS1c.84182T>G (p.Phe28061Cys)
c.65267T>G (p.Phe21756Cys)
c.65066T>G (p.Phe21689Cys)
c.64691T>G (p.Phe21564Cys)
c.91886T>G (p.Phe30629Cys)
c.86963T>G (p.Phe28988Cys)
n.447-21464A>C
n.2043+7475A>C
c.90983T>G (p.Phe30328Cys)
c.64877T>G (p.Phe21626Cys)
c.64736T>G (p.Phe21579Cys)
c.90779T>G (p.Phe30260Cys)
c.86177T>G (p.Phe28726Cys)
c.86174T>G (p.Phe28725Cys)
c.83216T>G (p.Phe27739Cys)
c.64832T>G (p.Phe21611Cys)
c.86327T>G (p.Phe28776Cys)
c.86324T>G (p.Phe28775Cys)
c.85757T>G (p.Phe28586Cys)
c.83099T>G (p.Phe27700Cys)
c.83018T>G (p.Phe27673Cys)
c.64781T>G (p.Phe21594Cys)
c.54635T>G (p.Phe18212Cys)
2g.178549836A>GCA1987538TTN,TTN-AS1c.84182T>C (p.Phe28061Ser)
c.65267T>C (p.Phe21756Ser)
c.65066T>C (p.Phe21689Ser)
c.64691T>C (p.Phe21564Ser)
c.91886T>C (p.Phe30629Ser)
c.86963T>C (p.Phe28988Ser)
n.447-21464A>G
n.2043+7475A>G
c.90983T>C (p.Phe30328Ser)
c.64877T>C (p.Phe21626Ser)
c.64736T>C (p.Phe21579Ser)
c.90779T>C (p.Phe30260Ser)
c.86177T>C (p.Phe28726Ser)
c.86174T>C (p.Phe28725Ser)
c.83216T>C (p.Phe27739Ser)
c.64832T>C (p.Phe21611Ser)
c.86327T>C (p.Phe28776Ser)
c.86324T>C (p.Phe28775Ser)
c.85757T>C (p.Phe28586Ser)
c.83099T>C (p.Phe27700Ser)
c.83018T>C (p.Phe27673Ser)
c.64781T>C (p.Phe21594Ser)
c.54635T>C (p.Phe18212Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549836A>TCA349496198TTN,TTN-AS1c.84182T>A (p.Phe28061Tyr)
c.65267T>A (p.Phe21756Tyr)
c.65066T>A (p.Phe21689Tyr)
c.64691T>A (p.Phe21564Tyr)
c.91886T>A (p.Phe30629Tyr)
c.86963T>A (p.Phe28988Tyr)
n.447-21464A>T
n.2043+7475A>T
c.90983T>A (p.Phe30328Tyr)
c.64877T>A (p.Phe21626Tyr)
c.64736T>A (p.Phe21579Tyr)
c.90779T>A (p.Phe30260Tyr)
c.86177T>A (p.Phe28726Tyr)
c.86174T>A (p.Phe28725Tyr)
c.83216T>A (p.Phe27739Tyr)
c.64832T>A (p.Phe21611Tyr)
c.86327T>A (p.Phe28776Tyr)
c.86324T>A (p.Phe28775Tyr)
c.85757T>A (p.Phe28586Tyr)
c.83099T>A (p.Phe27700Tyr)
c.83018T>A (p.Phe27673Tyr)
c.64781T>A (p.Phe21594Tyr)
c.54635T>A (p.Phe18212Tyr)
2g.178549837A=CA1310520129TTN,TTN-AS1c.84181T= (p.Phe28061=)
c.65266T= (p.Phe21756=)
c.65065T= (p.Phe21689=)
c.64690T= (p.Phe21564=)
c.91885T= (p.Phe30629=)
c.86962T= (p.Phe28988=)
n.447-21463A=
n.2043+7476A=
c.90982T= (p.Phe30328=)
c.64876T= (p.Phe21626=)
c.64735T= (p.Phe21579=)
c.90778T= (p.Phe30260=)
c.86176T= (p.Phe28726=)
c.86173T= (p.Phe28725=)
c.83215T= (p.Phe27739=)
c.64831T= (p.Phe21611=)
c.86326T= (p.Phe28776=)
c.86323T= (p.Phe28775=)
c.85756T= (p.Phe28586=)
c.83098T= (p.Phe27700=)
c.83017T= (p.Phe27673=)
c.64780T= (p.Phe21594=)
c.54634T= (p.Phe18212=)
2g.178549837A>CCA349496210TTN,TTN-AS1c.84181T>G (p.Phe28061Val)
c.65266T>G (p.Phe21756Val)
c.65065T>G (p.Phe21689Val)
c.64690T>G (p.Phe21564Val)
c.91885T>G (p.Phe30629Val)
c.86962T>G (p.Phe28988Val)
n.447-21463A>C
n.2043+7476A>C
c.90982T>G (p.Phe30328Val)
c.64876T>G (p.Phe21626Val)
c.64735T>G (p.Phe21579Val)
c.90778T>G (p.Phe30260Val)
c.86176T>G (p.Phe28726Val)
c.86173T>G (p.Phe28725Val)
c.83215T>G (p.Phe27739Val)
c.64831T>G (p.Phe21611Val)
c.86326T>G (p.Phe28776Val)
c.86323T>G (p.Phe28775Val)
c.85756T>G (p.Phe28586Val)
c.83098T>G (p.Phe27700Val)
c.83017T>G (p.Phe27673Val)
c.64780T>G (p.Phe21594Val)
c.54634T>G (p.Phe18212Val)
2g.178549837A>GCA349496215TTN,TTN-AS1c.84181T>C (p.Phe28061Leu)
c.65266T>C (p.Phe21756Leu)
c.65065T>C (p.Phe21689Leu)
c.64690T>C (p.Phe21564Leu)
c.91885T>C (p.Phe30629Leu)
c.86962T>C (p.Phe28988Leu)
n.447-21463A>G
n.2043+7476A>G
c.90982T>C (p.Phe30328Leu)
c.64876T>C (p.Phe21626Leu)
c.64735T>C (p.Phe21579Leu)
c.90778T>C (p.Phe30260Leu)
c.86176T>C (p.Phe28726Leu)
c.86173T>C (p.Phe28725Leu)
c.83215T>C (p.Phe27739Leu)
c.64831T>C (p.Phe21611Leu)
c.86326T>C (p.Phe28776Leu)
c.86323T>C (p.Phe28775Leu)
c.85756T>C (p.Phe28586Leu)
c.83098T>C (p.Phe27700Leu)
c.83017T>C (p.Phe27673Leu)
c.64780T>C (p.Phe21594Leu)
c.54634T>C (p.Phe18212Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549837A>TCA349496217TTN,TTN-AS1c.84181T>A (p.Phe28061Ile)
c.65266T>A (p.Phe21756Ile)
c.65065T>A (p.Phe21689Ile)
c.64690T>A (p.Phe21564Ile)
c.91885T>A (p.Phe30629Ile)
c.86962T>A (p.Phe28988Ile)
n.447-21463A>T
n.2043+7476A>T
c.90982T>A (p.Phe30328Ile)
c.64876T>A (p.Phe21626Ile)
c.64735T>A (p.Phe21579Ile)
c.90778T>A (p.Phe30260Ile)
c.86176T>A (p.Phe28726Ile)
c.86173T>A (p.Phe28725Ile)
c.83215T>A (p.Phe27739Ile)
c.64831T>A (p.Phe21611Ile)
c.86326T>A (p.Phe28776Ile)
c.86323T>A (p.Phe28775Ile)
c.85756T>A (p.Phe28586Ile)
c.83098T>A (p.Phe27700Ile)
c.83017T>A (p.Phe27673Ile)
c.64780T>A (p.Phe21594Ile)
c.54634T>A (p.Phe18212Ile)
2g.178549838T>ACA284031TTN,TTN-AS1c.84180A>T (p.Arg28060Ser)
c.65265A>T (p.Arg21755Ser)
c.65064A>T (p.Arg21688Ser)
c.64689A>T (p.Arg21563Ser)
c.91884A>T (p.Arg30628Ser)
c.86961A>T (p.Arg28987Ser)
n.447-21462T>A
n.2043+7477T>A
c.90981A>T (p.Arg30327Ser)
c.64875A>T (p.Arg21625Ser)
c.64734A>T (p.Arg21578Ser)
c.90777A>T (p.Arg30259Ser)
c.86175A>T (p.Arg28725Ser)
c.86172A>T (p.Arg28724Ser)
c.83214A>T (p.Arg27738Ser)
c.64830A>T (p.Arg21610Ser)
c.86325A>T (p.Arg28775Ser)
c.86322A>T (p.Arg28774Ser)
c.85755A>T (p.Arg28585Ser)
c.83097A>T (p.Arg27699Ser)
c.83016A>T (p.Arg27672Ser)
c.64779A>T (p.Arg21593Ser)
c.54633A>T (p.Arg18211Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549838T>CCA1987539TTN,TTN-AS1c.84180A>G (p.Arg28060=)
c.65265A>G (p.Arg21755=)
c.65064A>G (p.Arg21688=)
c.64689A>G (p.Arg21563=)
c.91884A>G (p.Arg30628=)
c.86961A>G (p.Arg28987=)
n.447-21462T>C
n.2043+7477T>C
c.90981A>G (p.Arg30327=)
c.64875A>G (p.Arg21625=)
c.64734A>G (p.Arg21578=)
c.90777A>G (p.Arg30259=)
c.86175A>G (p.Arg28725=)
c.86172A>G (p.Arg28724=)
c.83214A>G (p.Arg27738=)
c.64830A>G (p.Arg21610=)
c.86325A>G (p.Arg28775=)
c.86322A>G (p.Arg28774=)
c.85755A>G (p.Arg28585=)
c.83097A>G (p.Arg27699=)
c.83016A>G (p.Arg27672=)
c.64779A>G (p.Arg21593=)
c.54633A>G (p.Arg18211=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549838T>GCA349496219TTN,TTN-AS1c.84180A>C (p.Arg28060Ser)
c.65265A>C (p.Arg21755Ser)
c.65064A>C (p.Arg21688Ser)
c.64689A>C (p.Arg21563Ser)
c.91884A>C (p.Arg30628Ser)
c.86961A>C (p.Arg28987Ser)
n.447-21462T>G
n.2043+7477T>G
c.90981A>C (p.Arg30327Ser)
c.64875A>C (p.Arg21625Ser)
c.64734A>C (p.Arg21578Ser)
c.90777A>C (p.Arg30259Ser)
c.86175A>C (p.Arg28725Ser)
c.86172A>C (p.Arg28724Ser)
c.83214A>C (p.Arg27738Ser)
c.64830A>C (p.Arg21610Ser)
c.86325A>C (p.Arg28775Ser)
c.86322A>C (p.Arg28774Ser)
c.85755A>C (p.Arg28585Ser)
c.83097A>C (p.Arg27699Ser)
c.83016A>C (p.Arg27672Ser)
c.64779A>C (p.Arg21593Ser)
c.54633A>C (p.Arg18211Ser)
2g.178549838T=CA1310520130TTN,TTN-AS1c.84180A= (p.Arg28060=)
c.65265A= (p.Arg21755=)
c.65064A= (p.Arg21688=)
c.64689A= (p.Arg21563=)
c.91884A= (p.Arg30628=)
c.86961A= (p.Arg28987=)
n.447-21462T=
n.2043+7477T=
c.90981A= (p.Arg30327=)
c.64875A= (p.Arg21625=)
c.64734A= (p.Arg21578=)
c.90777A= (p.Arg30259=)
c.86175A= (p.Arg28725=)
c.86172A= (p.Arg28724=)
c.83214A= (p.Arg27738=)
c.64830A= (p.Arg21610=)
c.86325A= (p.Arg28775=)
c.86322A= (p.Arg28774=)
c.85755A= (p.Arg28585=)
c.83097A= (p.Arg27699=)
c.83016A= (p.Arg27672=)
c.64779A= (p.Arg21593=)
c.54633A= (p.Arg18211=)
2g.178549839C>ACA349496221TTN,TTN-AS1c.84179G>T (p.Arg28060Ile)
c.65264G>T (p.Arg21755Ile)
c.65063G>T (p.Arg21688Ile)
c.64688G>T (p.Arg21563Ile)
c.91883G>T (p.Arg30628Ile)
c.86960G>T (p.Arg28987Ile)
n.447-21461C>A
n.2043+7478C>A
c.90980G>T (p.Arg30327Ile)
c.64874G>T (p.Arg21625Ile)
c.64733G>T (p.Arg21578Ile)
c.90776G>T (p.Arg30259Ile)
c.86174G>T (p.Arg28725Ile)
c.86171G>T (p.Arg28724Ile)
c.83213G>T (p.Arg27738Ile)
c.64829G>T (p.Arg21610Ile)
c.86324G>T (p.Arg28775Ile)
c.86321G>T (p.Arg28774Ile)
c.85754G>T (p.Arg28585Ile)
c.83096G>T (p.Arg27699Ile)
c.83015G>T (p.Arg27672Ile)
c.64778G>T (p.Arg21593Ile)
c.54632G>T (p.Arg18211Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178549839C=CA1310520131TTN,TTN-AS1c.84179G= (p.Arg28060=)
c.65264G= (p.Arg21755=)
c.65063G= (p.Arg21688=)
c.64688G= (p.Arg21563=)
c.91883G= (p.Arg30628=)
c.86960G= (p.Arg28987=)
n.447-21461C=
n.2043+7478C=
c.90980G= (p.Arg30327=)
c.64874G= (p.Arg21625=)
c.64733G= (p.Arg21578=)
c.90776G= (p.Arg30259=)
c.86174G= (p.Arg28725=)
c.86171G= (p.Arg28724=)
c.83213G= (p.Arg27738=)
c.64829G= (p.Arg21610=)
c.86324G= (p.Arg28775=)
c.86321G= (p.Arg28774=)
c.85754G= (p.Arg28585=)
c.83096G= (p.Arg27699=)
c.83015G= (p.Arg27672=)
c.64778G= (p.Arg21593=)
c.54632G= (p.Arg18211=)
2g.178549839C>GCA349496224TTN,TTN-AS1c.84179G>C (p.Arg28060Thr)
c.65264G>C (p.Arg21755Thr)
c.65063G>C (p.Arg21688Thr)
c.64688G>C (p.Arg21563Thr)
c.91883G>C (p.Arg30628Thr)
c.86960G>C (p.Arg28987Thr)
n.447-21461C>G
n.2043+7478C>G
c.90980G>C (p.Arg30327Thr)
c.64874G>C (p.Arg21625Thr)
c.64733G>C (p.Arg21578Thr)
c.90776G>C (p.Arg30259Thr)
c.86174G>C (p.Arg28725Thr)
c.86171G>C (p.Arg28724Thr)
c.83213G>C (p.Arg27738Thr)
c.64829G>C (p.Arg21610Thr)
c.86324G>C (p.Arg28775Thr)
c.86321G>C (p.Arg28774Thr)
c.85754G>C (p.Arg28585Thr)
c.83096G>C (p.Arg27699Thr)
c.83015G>C (p.Arg27672Thr)
c.64778G>C (p.Arg21593Thr)
c.54632G>C (p.Arg18211Thr)
2g.178549839C>TCA310899TTN,TTN-AS1c.84179G>A (p.Arg28060Lys)
c.65264G>A (p.Arg21755Lys)
c.65063G>A (p.Arg21688Lys)
c.64688G>A (p.Arg21563Lys)
c.91883G>A (p.Arg30628Lys)
c.86960G>A (p.Arg28987Lys)
n.447-21461C>T
n.2043+7478C>T
c.90980G>A (p.Arg30327Lys)
c.64874G>A (p.Arg21625Lys)
c.64733G>A (p.Arg21578Lys)
c.90776G>A (p.Arg30259Lys)
c.86174G>A (p.Arg28725Lys)
c.86171G>A (p.Arg28724Lys)
c.83213G>A (p.Arg27738Lys)
c.64829G>A (p.Arg21610Lys)
c.86324G>A (p.Arg28775Lys)
c.86321G>A (p.Arg28774Lys)
c.85754G>A (p.Arg28585Lys)
c.83096G>A (p.Arg27699Lys)
c.83015G>A (p.Arg27672Lys)
c.64778G>A (p.Arg21593Lys)
c.54632G>A (p.Arg18211Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549840T>ACA349496228TTN,TTN-AS1c.84178A>T (p.Arg28060Ter)
c.65263A>T (p.Arg21755Ter)
c.65062A>T (p.Arg21688Ter)
c.64687A>T (p.Arg21563Ter)
c.91882A>T (p.Arg30628Ter)
c.86959A>T (p.Arg28987Ter)
n.447-21460T>A
n.2043+7479T>A
c.90979A>T (p.Arg30327Ter)
c.64873A>T (p.Arg21625Ter)
c.64732A>T (p.Arg21578Ter)
c.90775A>T (p.Arg30259Ter)
c.86173A>T (p.Arg28725Ter)
c.86170A>T (p.Arg28724Ter)
c.83212A>T (p.Arg27738Ter)
c.64828A>T (p.Arg21610Ter)
c.86323A>T (p.Arg28775Ter)
c.86320A>T (p.Arg28774Ter)
c.85753A>T (p.Arg28585Ter)
c.83095A>T (p.Arg27699Ter)
c.83014A>T (p.Arg27672Ter)
c.64777A>T (p.Arg21593Ter)
c.54631A>T (p.Arg18211Ter)
2g.178549840T>CCA349496231TTN,TTN-AS1c.84178A>G (p.Arg28060Gly)
c.65263A>G (p.Arg21755Gly)
c.65062A>G (p.Arg21688Gly)
c.64687A>G (p.Arg21563Gly)
c.91882A>G (p.Arg30628Gly)
c.86959A>G (p.Arg28987Gly)
n.447-21460T>C
n.2043+7479T>C
c.90979A>G (p.Arg30327Gly)
c.64873A>G (p.Arg21625Gly)
c.64732A>G (p.Arg21578Gly)
c.90775A>G (p.Arg30259Gly)
c.86173A>G (p.Arg28725Gly)
c.86170A>G (p.Arg28724Gly)
c.83212A>G (p.Arg27738Gly)
c.64828A>G (p.Arg21610Gly)
c.86323A>G (p.Arg28775Gly)
c.86320A>G (p.Arg28774Gly)
c.85753A>G (p.Arg28585Gly)
c.83095A>G (p.Arg27699Gly)
c.83014A>G (p.Arg27672Gly)
c.64777A>G (p.Arg21593Gly)
c.54631A>G (p.Arg18211Gly)
2g.178549840T>GCA430244856TTN,TTN-AS1c.84178A>C (p.Arg28060=)
c.65263A>C (p.Arg21755=)
c.65062A>C (p.Arg21688=)
c.64687A>C (p.Arg21563=)
c.91882A>C (p.Arg30628=)
c.86959A>C (p.Arg28987=)
n.447-21460T>G
n.2043+7479T>G
c.90979A>C (p.Arg30327=)
c.64873A>C (p.Arg21625=)
c.64732A>C (p.Arg21578=)
c.90775A>C (p.Arg30259=)
c.86173A>C (p.Arg28725=)
c.86170A>C (p.Arg28724=)
c.83212A>C (p.Arg27738=)
c.64828A>C (p.Arg21610=)
c.86323A>C (p.Arg28775=)
c.86320A>C (p.Arg28774=)
c.85753A>C (p.Arg28585=)
c.83095A>C (p.Arg27699=)
c.83014A>C (p.Arg27672=)
c.64777A>C (p.Arg21593=)
c.54631A>C (p.Arg18211=)
 gnomAD v4
2g.178549841T>ACA430244857TTN,TTN-AS1c.84177A>T (p.Ile28059=)
c.65262A>T (p.Ile21754=)
c.65061A>T (p.Ile21687=)
c.64686A>T (p.Ile21562=)
c.91881A>T (p.Ile30627=)
c.86958A>T (p.Ile28986=)
n.447-21459T>A
n.2043+7480T>A
c.90978A>T (p.Ile30326=)
c.64872A>T (p.Ile21624=)
c.64731A>T (p.Ile21577=)
c.90774A>T (p.Ile30258=)
c.86172A>T (p.Ile28724=)
c.86169A>T (p.Ile28723=)
c.83211A>T (p.Ile27737=)
c.64827A>T (p.Ile21609=)
c.86322A>T (p.Ile28774=)
c.86319A>T (p.Ile28773=)
c.85752A>T (p.Ile28584=)
c.83094A>T (p.Ile27698=)
c.83013A>T (p.Ile27671=)
c.64776A>T (p.Ile21592=)
c.54630A>T (p.Ile18210=)
2g.178549841T>CCA349496235TTN,TTN-AS1c.84177A>G (p.Ile28059Met)
c.65262A>G (p.Ile21754Met)
c.65061A>G (p.Ile21687Met)
c.64686A>G (p.Ile21562Met)
c.91881A>G (p.Ile30627Met)
c.86958A>G (p.Ile28986Met)
n.447-21459T>C
n.2043+7480T>C
c.90978A>G (p.Ile30326Met)
c.64872A>G (p.Ile21624Met)
c.64731A>G (p.Ile21577Met)
c.90774A>G (p.Ile30258Met)
c.86172A>G (p.Ile28724Met)
c.86169A>G (p.Ile28723Met)
c.83211A>G (p.Ile27737Met)
c.64827A>G (p.Ile21609Met)
c.86322A>G (p.Ile28774Met)
c.86319A>G (p.Ile28773Met)
c.85752A>G (p.Ile28584Met)
c.83094A>G (p.Ile27698Met)
c.83013A>G (p.Ile27671Met)
c.64776A>G (p.Ile21592Met)
c.54630A>G (p.Ile18210Met)
2g.178549841T>GCA430244858TTN,TTN-AS1c.84177A>C (p.Ile28059=)
c.65262A>C (p.Ile21754=)
c.65061A>C (p.Ile21687=)
c.64686A>C (p.Ile21562=)
c.91881A>C (p.Ile30627=)
c.86958A>C (p.Ile28986=)
n.447-21459T>G
n.2043+7480T>G
c.90978A>C (p.Ile30326=)
c.64872A>C (p.Ile21624=)
c.64731A>C (p.Ile21577=)
c.90774A>C (p.Ile30258=)
c.86172A>C (p.Ile28724=)
c.86169A>C (p.Ile28723=)
c.83211A>C (p.Ile27737=)
c.64827A>C (p.Ile21609=)
c.86322A>C (p.Ile28774=)
c.86319A>C (p.Ile28773=)
c.85752A>C (p.Ile28584=)
c.83094A>C (p.Ile27698=)
c.83013A>C (p.Ile27671=)
c.64776A>C (p.Ile21592=)
c.54630A>C (p.Ile18210=)
2g.178549842A=CA1310520132TTN,TTN-AS1c.84176T= (p.Ile28059=)
c.65261T= (p.Ile21754=)
c.65060T= (p.Ile21687=)
c.64685T= (p.Ile21562=)
c.91880T= (p.Ile30627=)
c.86957T= (p.Ile28986=)
n.447-21458A=
n.2043+7481A=
c.90977T= (p.Ile30326=)
c.64871T= (p.Ile21624=)
c.64730T= (p.Ile21577=)
c.90773T= (p.Ile30258=)
c.86171T= (p.Ile28724=)
c.86168T= (p.Ile28723=)
c.83210T= (p.Ile27737=)
c.64826T= (p.Ile21609=)
c.86321T= (p.Ile28774=)
c.86318T= (p.Ile28773=)
c.85751T= (p.Ile28584=)
c.83093T= (p.Ile27698=)
c.83012T= (p.Ile27671=)
c.64775T= (p.Ile21592=)
c.54629T= (p.Ile18210=)
2g.178549842A>CCA349496257TTN,TTN-AS1c.84176T>G (p.Ile28059Arg)
c.65261T>G (p.Ile21754Arg)
c.65060T>G (p.Ile21687Arg)
c.64685T>G (p.Ile21562Arg)
c.91880T>G (p.Ile30627Arg)
c.86957T>G (p.Ile28986Arg)
n.447-21458A>C
n.2043+7481A>C
c.90977T>G (p.Ile30326Arg)
c.64871T>G (p.Ile21624Arg)
c.64730T>G (p.Ile21577Arg)
c.90773T>G (p.Ile30258Arg)
c.86171T>G (p.Ile28724Arg)
c.86168T>G (p.Ile28723Arg)
c.83210T>G (p.Ile27737Arg)
c.64826T>G (p.Ile21609Arg)
c.86321T>G (p.Ile28774Arg)
c.86318T>G (p.Ile28773Arg)
c.85751T>G (p.Ile28584Arg)
c.83093T>G (p.Ile27698Arg)
c.83012T>G (p.Ile27671Arg)
c.64775T>G (p.Ile21592Arg)
c.54629T>G (p.Ile18210Arg)
2g.178549842A>GCA1987540TTN,TTN-AS1c.84176T>C (p.Ile28059Thr)
c.65261T>C (p.Ile21754Thr)
c.65060T>C (p.Ile21687Thr)
c.64685T>C (p.Ile21562Thr)
c.91880T>C (p.Ile30627Thr)
c.86957T>C (p.Ile28986Thr)
n.447-21458A>G
n.2043+7481A>G
c.90977T>C (p.Ile30326Thr)
c.64871T>C (p.Ile21624Thr)
c.64730T>C (p.Ile21577Thr)
c.90773T>C (p.Ile30258Thr)
c.86171T>C (p.Ile28724Thr)
c.86168T>C (p.Ile28723Thr)
c.83210T>C (p.Ile27737Thr)
c.64826T>C (p.Ile21609Thr)
c.86321T>C (p.Ile28774Thr)
c.86318T>C (p.Ile28773Thr)
c.85751T>C (p.Ile28584Thr)
c.83093T>C (p.Ile27698Thr)
c.83012T>C (p.Ile27671Thr)
c.64775T>C (p.Ile21592Thr)
c.54629T>C (p.Ile18210Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178549842A>TCA349496252TTN,TTN-AS1c.84176T>A (p.Ile28059Lys)
c.65261T>A (p.Ile21754Lys)
c.65060T>A (p.Ile21687Lys)
c.64685T>A (p.Ile21562Lys)
c.91880T>A (p.Ile30627Lys)
c.86957T>A (p.Ile28986Lys)
n.447-21458A>T
n.2043+7481A>T
c.90977T>A (p.Ile30326Lys)
c.64871T>A (p.Ile21624Lys)
c.64730T>A (p.Ile21577Lys)
c.90773T>A (p.Ile30258Lys)
c.86171T>A (p.Ile28724Lys)
c.86168T>A (p.Ile28723Lys)
c.83210T>A (p.Ile27737Lys)
c.64826T>A (p.Ile21609Lys)
c.86321T>A (p.Ile28774Lys)
c.86318T>A (p.Ile28773Lys)
c.85751T>A (p.Ile28584Lys)
c.83093T>A (p.Ile27698Lys)
c.83012T>A (p.Ile27671Lys)
c.64775T>A (p.Ile21592Lys)
c.54629T>A (p.Ile18210Lys)
2g.178549843T>ACA349496258TTN,TTN-AS1c.84175A>T (p.Ile28059Leu)
c.65260A>T (p.Ile21754Leu)
c.65059A>T (p.Ile21687Leu)
c.64684A>T (p.Ile21562Leu)
c.91879A>T (p.Ile30627Leu)
c.86956A>T (p.Ile28986Leu)
n.447-21457T>A
n.2043+7482T>A
c.90976A>T (p.Ile30326Leu)
c.64870A>T (p.Ile21624Leu)
c.64729A>T (p.Ile21577Leu)
c.90772A>T (p.Ile30258Leu)
c.86170A>T (p.Ile28724Leu)
c.86167A>T (p.Ile28723Leu)
c.83209A>T (p.Ile27737Leu)
c.64825A>T (p.Ile21609Leu)
c.86320A>T (p.Ile28774Leu)
c.86317A>T (p.Ile28773Leu)
c.85750A>T (p.Ile28584Leu)
c.83092A>T (p.Ile27698Leu)
c.83011A>T (p.Ile27671Leu)
c.64774A>T (p.Ile21592Leu)
c.54628A>T (p.Ile18210Leu)
 gnomAD v4
2g.178549843T>CCA185748TTN,TTN-AS1c.84175A>G (p.Ile28059Val)
c.65260A>G (p.Ile21754Val)
c.65059A>G (p.Ile21687Val)
c.64684A>G (p.Ile21562Val)
c.91879A>G (p.Ile30627Val)
c.86956A>G (p.Ile28986Val)
n.447-21457T>C
n.2043+7482T>C
c.90976A>G (p.Ile30326Val)
c.64870A>G (p.Ile21624Val)
c.64729A>G (p.Ile21577Val)
c.90772A>G (p.Ile30258Val)
c.86170A>G (p.Ile28724Val)
c.86167A>G (p.Ile28723Val)
c.83209A>G (p.Ile27737Val)
c.64825A>G (p.Ile21609Val)
c.86320A>G (p.Ile28774Val)
c.86317A>G (p.Ile28773Val)
c.85750A>G (p.Ile28584Val)
c.83092A>G (p.Ile27698Val)
c.83011A>G (p.Ile27671Val)
c.64774A>G (p.Ile21592Val)
c.54628A>G (p.Ile18210Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178549843T>GCA349496260TTN,TTN-AS1c.84175A>C (p.Ile28059Leu)
c.65260A>C (p.Ile21754Leu)
c.65059A>C (p.Ile21687Leu)
c.64684A>C (p.Ile21562Leu)
c.91879A>C (p.Ile30627Leu)
c.86956A>C (p.Ile28986Leu)
n.447-21457T>G
n.2043+7482T>G
c.90976A>C (p.Ile30326Leu)
c.64870A>C (p.Ile21624Leu)
c.64729A>C (p.Ile21577Leu)
c.90772A>C (p.Ile30258Leu)
c.86170A>C (p.Ile28724Leu)
c.86167A>C (p.Ile28723Leu)
c.83209A>C (p.Ile27737Leu)
c.64825A>C (p.Ile21609Leu)
c.86320A>C (p.Ile28774Leu)
c.86317A>C (p.Ile28773Leu)
c.85750A>C (p.Ile28584Leu)
c.83092A>C (p.Ile27698Leu)
c.83011A>C (p.Ile27671Leu)
c.64774A>C (p.Ile21592Leu)
c.54628A>C (p.Ile18210Leu)
2g.178549843T=CA1310520133TTN,TTN-AS1c.84175A= (p.Ile28059=)
c.65260A= (p.Ile21754=)
c.65059A= (p.Ile21687=)
c.64684A= (p.Ile21562=)
c.91879A= (p.Ile30627=)
c.86956A= (p.Ile28986=)
n.447-21457T=
n.2043+7482T=
c.90976A= (p.Ile30326=)
c.64870A= (p.Ile21624=)
c.64729A= (p.Ile21577=)
c.90772A= (p.Ile30258=)
c.86170A= (p.Ile28724=)
c.86167A= (p.Ile28723=)
c.83209A= (p.Ile27737=)
c.64825A= (p.Ile21609=)
c.86320A= (p.Ile28774=)
c.86317A= (p.Ile28773=)
c.85750A= (p.Ile28584=)
c.83092A= (p.Ile27698=)
c.83011A= (p.Ile27671=)
c.64774A= (p.Ile21592=)
c.54628A= (p.Ile18210=)
2g.178549844T>ACA60974960TTN,TTN-AS1c.84174A>T (p.Pro28058=)
c.65259A>T (p.Pro21753=)
c.65058A>T (p.Pro21686=)
c.64683A>T (p.Pro21561=)
c.91878A>T (p.Pro30626=)
c.86955A>T (p.Pro28985=)
n.447-21456T>A
n.2043+7483T>A
c.90975A>T (p.Pro30325=)
c.64869A>T (p.Pro21623=)
c.64728A>T (p.Pro21576=)
c.90771A>T (p.Pro30257=)
c.86169A>T (p.Pro28723=)
c.86166A>T (p.Pro28722=)
c.83208A>T (p.Pro27736=)
c.64824A>T (p.Pro21608=)
c.86319A>T (p.Pro28773=)
c.86316A>T (p.Pro28772=)
c.85749A>T (p.Pro28583=)
c.83091A>T (p.Pro27697=)
c.83010A>T (p.Pro27670=)
c.64773A>T (p.Pro21591=)
c.54627A>T (p.Pro18209=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178549844T>CCA430244859TTN,TTN-AS1c.84174A>G (p.Pro28058=)
c.65259A>G (p.Pro21753=)
c.65058A>G (p.Pro21686=)
c.64683A>G (p.Pro21561=)
c.91878A>G (p.Pro30626=)
c.86955A>G (p.Pro28985=)
n.447-21456T>C
n.2043+7483T>C
c.90975A>G (p.Pro30325=)
c.64869A>G (p.Pro21623=)
c.64728A>G (p.Pro21576=)
c.90771A>G (p.Pro30257=)
c.86169A>G (p.Pro28723=)
c.86166A>G (p.Pro28722=)
c.83208A>G (p.Pro27736=)
c.64824A>G (p.Pro21608=)
c.86319A>G (p.Pro28773=)
c.86316A>G (p.Pro28772=)
c.85749A>G (p.Pro28583=)
c.83091A>G (p.Pro27697=)
c.83010A>G (p.Pro27670=)
c.64773A>G (p.Pro21591=)
c.54627A>G (p.Pro18209=)
 ClinVar dbSNP gnomAD v4
2g.178549844T>GCA430244860TTN,TTN-AS1c.84174A>C (p.Pro28058=)
c.65259A>C (p.Pro21753=)
c.65058A>C (p.Pro21686=)
c.64683A>C (p.Pro21561=)
c.91878A>C (p.Pro30626=)
c.86955A>C (p.Pro28985=)
n.447-21456T>G
n.2043+7483T>G
c.90975A>C (p.Pro30325=)
c.64869A>C (p.Pro21623=)
c.64728A>C (p.Pro21576=)
c.90771A>C (p.Pro30257=)
c.86169A>C (p.Pro28723=)
c.86166A>C (p.Pro28722=)
c.83208A>C (p.Pro27736=)
c.64824A>C (p.Pro21608=)
c.86319A>C (p.Pro28773=)
c.86316A>C (p.Pro28772=)
c.85749A>C (p.Pro28583=)
c.83091A>C (p.Pro27697=)
c.83010A>C (p.Pro27670=)
c.64773A>C (p.Pro21591=)
c.54627A>C (p.Pro18209=)
2g.178549844T=CA1310520134TTN,TTN-AS1c.84174A= (p.Pro28058=)
c.65259A= (p.Pro21753=)
c.65058A= (p.Pro21686=)
c.64683A= (p.Pro21561=)
c.91878A= (p.Pro30626=)
c.86955A= (p.Pro28985=)
n.447-21456T=
n.2043+7483T=
c.90975A= (p.Pro30325=)
c.64869A= (p.Pro21623=)
c.64728A= (p.Pro21576=)
c.90771A= (p.Pro30257=)
c.86169A= (p.Pro28723=)
c.86166A= (p.Pro28722=)
c.83208A= (p.Pro27736=)
c.64824A= (p.Pro21608=)
c.86319A= (p.Pro28773=)
c.86316A= (p.Pro28772=)
c.85749A= (p.Pro28583=)
c.83091A= (p.Pro27697=)
c.83010A= (p.Pro27670=)
c.64773A= (p.Pro21591=)
c.54627A= (p.Pro18209=)
2g.178549845G>ACA349496268TTN,TTN-AS1c.84173C>T (p.Pro28058Leu)
c.65258C>T (p.Pro21753Leu)
c.65057C>T (p.Pro21686Leu)
c.64682C>T (p.Pro21561Leu)
c.91877C>T (p.Pro30626Leu)
c.86954C>T (p.Pro28985Leu)
n.447-21455G>A
n.2043+7484G>A
c.90974C>T (p.Pro30325Leu)
c.64868C>T (p.Pro21623Leu)
c.64727C>T (p.Pro21576Leu)
c.90770C>T (p.Pro30257Leu)
c.86168C>T (p.Pro28723Leu)
c.86165C>T (p.Pro28722Leu)
c.83207C>T (p.Pro27736Leu)
c.64823C>T (p.Pro21608Leu)
c.86318C>T (p.Pro28773Leu)
c.86315C>T (p.Pro28772Leu)
c.85748C>T (p.Pro28583Leu)
c.83090C>T (p.Pro27697Leu)
c.83009C>T (p.Pro27670Leu)
c.64772C>T (p.Pro21591Leu)
c.54626C>T (p.Pro18209Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549845G>CCA349496271TTN,TTN-AS1c.84173C>G (p.Pro28058Arg)
c.65258C>G (p.Pro21753Arg)
c.65057C>G (p.Pro21686Arg)
c.64682C>G (p.Pro21561Arg)
c.91877C>G (p.Pro30626Arg)
c.86954C>G (p.Pro28985Arg)
n.447-21455G>C
n.2043+7484G>C
c.90974C>G (p.Pro30325Arg)
c.64868C>G (p.Pro21623Arg)
c.64727C>G (p.Pro21576Arg)
c.90770C>G (p.Pro30257Arg)
c.86168C>G (p.Pro28723Arg)
c.86165C>G (p.Pro28722Arg)
c.83207C>G (p.Pro27736Arg)
c.64823C>G (p.Pro21608Arg)
c.86318C>G (p.Pro28773Arg)
c.86315C>G (p.Pro28772Arg)
c.85748C>G (p.Pro28583Arg)
c.83090C>G (p.Pro27697Arg)
c.83009C>G (p.Pro27670Arg)
c.64772C>G (p.Pro21591Arg)
c.54626C>G (p.Pro18209Arg)
 gnomAD v4
2g.178549845G>TCA349496282TTN,TTN-AS1c.84173C>A (p.Pro28058Gln)
c.65258C>A (p.Pro21753Gln)
c.65057C>A (p.Pro21686Gln)
c.64682C>A (p.Pro21561Gln)
c.91877C>A (p.Pro30626Gln)
c.86954C>A (p.Pro28985Gln)
n.447-21455G>T
n.2043+7484G>T
c.90974C>A (p.Pro30325Gln)
c.64868C>A (p.Pro21623Gln)
c.64727C>A (p.Pro21576Gln)
c.90770C>A (p.Pro30257Gln)
c.86168C>A (p.Pro28723Gln)
c.86165C>A (p.Pro28722Gln)
c.83207C>A (p.Pro27736Gln)
c.64823C>A (p.Pro21608Gln)
c.86318C>A (p.Pro28773Gln)
c.86315C>A (p.Pro28772Gln)
c.85748C>A (p.Pro28583Gln)
c.83090C>A (p.Pro27697Gln)
c.83009C>A (p.Pro27670Gln)
c.64772C>A (p.Pro21591Gln)
c.54626C>A (p.Pro18209Gln)
2g.178549846G>ACA1987541TTN,TTN-AS1c.84172C>T (p.Pro28058Ser)
c.65257C>T (p.Pro21753Ser)
c.65056C>T (p.Pro21686Ser)
c.64681C>T (p.Pro21561Ser)
c.91876C>T (p.Pro30626Ser)
c.86953C>T (p.Pro28985Ser)
n.447-21454G>A
n.2043+7485G>A
c.90973C>T (p.Pro30325Ser)
c.64867C>T (p.Pro21623Ser)
c.64726C>T (p.Pro21576Ser)
c.90769C>T (p.Pro30257Ser)
c.86167C>T (p.Pro28723Ser)
c.86164C>T (p.Pro28722Ser)
c.83206C>T (p.Pro27736Ser)
c.64822C>T (p.Pro21608Ser)
c.86317C>T (p.Pro28773Ser)
c.86314C>T (p.Pro28772Ser)
c.85747C>T (p.Pro28583Ser)
c.83089C>T (p.Pro27697Ser)
c.83008C>T (p.Pro27670Ser)
c.64771C>T (p.Pro21591Ser)
c.54625C>T (p.Pro18209Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549846G>CCA349496290TTN,TTN-AS1c.84172C>G (p.Pro28058Ala)
c.65257C>G (p.Pro21753Ala)
c.65056C>G (p.Pro21686Ala)
c.64681C>G (p.Pro21561Ala)
c.91876C>G (p.Pro30626Ala)
c.86953C>G (p.Pro28985Ala)
n.447-21454G>C
n.2043+7485G>C
c.90973C>G (p.Pro30325Ala)
c.64867C>G (p.Pro21623Ala)
c.64726C>G (p.Pro21576Ala)
c.90769C>G (p.Pro30257Ala)
c.86167C>G (p.Pro28723Ala)
c.86164C>G (p.Pro28722Ala)
c.83206C>G (p.Pro27736Ala)
c.64822C>G (p.Pro21608Ala)
c.86317C>G (p.Pro28773Ala)
c.86314C>G (p.Pro28772Ala)
c.85747C>G (p.Pro28583Ala)
c.83089C>G (p.Pro27697Ala)
c.83008C>G (p.Pro27670Ala)
c.64771C>G (p.Pro21591Ala)
c.54625C>G (p.Pro18209Ala)
2g.178549846G=CA1310520136TTN,TTN-AS1c.84172C= (p.Pro28058=)
c.65257C= (p.Pro21753=)
c.65056C= (p.Pro21686=)
c.64681C= (p.Pro21561=)
c.91876C= (p.Pro30626=)
c.86953C= (p.Pro28985=)
n.447-21454G=
n.2043+7485G=
c.90973C= (p.Pro30325=)
c.64867C= (p.Pro21623=)
c.64726C= (p.Pro21576=)
c.90769C= (p.Pro30257=)
c.86167C= (p.Pro28723=)
c.86164C= (p.Pro28722=)
c.83206C= (p.Pro27736=)
c.64822C= (p.Pro21608=)
c.86317C= (p.Pro28773=)
c.86314C= (p.Pro28772=)
c.85747C= (p.Pro28583=)
c.83089C= (p.Pro27697=)
c.83008C= (p.Pro27670=)
c.64771C= (p.Pro21591=)
c.54625C= (p.Pro18209=)
2g.178549846G>TCA349496295TTN,TTN-AS1c.84172C>A (p.Pro28058Thr)
c.65257C>A (p.Pro21753Thr)
c.65056C>A (p.Pro21686Thr)
c.64681C>A (p.Pro21561Thr)
c.91876C>A (p.Pro30626Thr)
c.86953C>A (p.Pro28985Thr)
n.447-21454G>T
n.2043+7485G>T
c.90973C>A (p.Pro30325Thr)
c.64867C>A (p.Pro21623Thr)
c.64726C>A (p.Pro21576Thr)
c.90769C>A (p.Pro30257Thr)
c.86167C>A (p.Pro28723Thr)
c.86164C>A (p.Pro28722Thr)
c.83206C>A (p.Pro27736Thr)
c.64822C>A (p.Pro21608Thr)
c.86317C>A (p.Pro28773Thr)
c.86314C>A (p.Pro28772Thr)
c.85747C>A (p.Pro28583Thr)
c.83089C>A (p.Pro27697Thr)
c.83008C>A (p.Pro27670Thr)
c.64771C>A (p.Pro21591Thr)
c.54625C>A (p.Pro18209Thr)
2g.178549846_178549847delinsGCCA1310520135TTN,TTN-AS1c.84171_84172delinsGC (p.Gly28057=)
c.65256_65257delinsGC (p.Gly21752=)
c.65055_65056delinsGC (p.Gly21685=)
c.64680_64681delinsGC (p.Gly21560=)
c.91875_91876delinsGC (p.Gly30625=)
c.86952_86953delinsGC (p.Gly28984=)
n.447-21454_447-21453delinsGC
n.2043+7485_2043+7486delinsGC
c.90972_90973delinsGC (p.Gly30324=)
c.64866_64867delinsGC (p.Gly21622=)
c.64725_64726delinsGC (p.Gly21575=)
c.90768_90769delinsGC (p.Gly30256=)
c.86166_86167delinsGC (p.Gly28722=)
c.86163_86164delinsGC (p.Gly28721=)
c.83205_83206delinsGC (p.Gly27735=)
c.64821_64822delinsGC (p.Gly21607=)
c.86316_86317delinsGC (p.Gly28772=)
c.86313_86314delinsGC (p.Gly28771=)
c.85746_85747delinsGC (p.Gly28582=)
c.83088_83089delinsGC (p.Gly27696=)
c.83007_83008delinsGC (p.Gly27669=)
c.64770_64771delinsGC (p.Gly21590=)
c.54624_54625delinsGC (p.Gly18208=)
2g.178549847C>ACA430244861TTN,TTN-AS1c.84171G>T (p.Gly28057=)
c.65256G>T (p.Gly21752=)
c.65055G>T (p.Gly21685=)
c.64680G>T (p.Gly21560=)
c.91875G>T (p.Gly30625=)
c.86952G>T (p.Gly28984=)
n.447-21453C>A
n.2043+7486C>A
c.90972G>T (p.Gly30324=)
c.64866G>T (p.Gly21622=)
c.64725G>T (p.Gly21575=)
c.90768G>T (p.Gly30256=)
c.86166G>T (p.Gly28722=)
c.86163G>T (p.Gly28721=)
c.83205G>T (p.Gly27735=)
c.64821G>T (p.Gly21607=)
c.86316G>T (p.Gly28772=)
c.86313G>T (p.Gly28771=)
c.85746G>T (p.Gly28582=)
c.83088G>T (p.Gly27696=)
c.83007G>T (p.Gly27669=)
c.64770G>T (p.Gly21590=)
c.54624G>T (p.Gly18208=)
 gnomAD v4
2g.178549847C=CA1310520137TTN,TTN-AS1c.84171G= (p.Gly28057=)
c.65256G= (p.Gly21752=)
c.65055G= (p.Gly21685=)
c.64680G= (p.Gly21560=)
c.91875G= (p.Gly30625=)
c.86952G= (p.Gly28984=)
n.447-21453C=
n.2043+7486C=
c.90972G= (p.Gly30324=)
c.64866G= (p.Gly21622=)
c.64725G= (p.Gly21575=)
c.90768G= (p.Gly30256=)
c.86166G= (p.Gly28722=)
c.86163G= (p.Gly28721=)
c.83205G= (p.Gly27735=)
c.64821G= (p.Gly21607=)
c.86316G= (p.Gly28772=)
c.86313G= (p.Gly28771=)
c.85746G= (p.Gly28582=)
c.83088G= (p.Gly27696=)
c.83007G= (p.Gly27669=)
c.64770G= (p.Gly21590=)
c.54624G= (p.Gly18208=)
2g.178549847C>GCA430244862TTN,TTN-AS1c.84171G>C (p.Gly28057=)
c.65256G>C (p.Gly21752=)
c.65055G>C (p.Gly21685=)
c.64680G>C (p.Gly21560=)
c.91875G>C (p.Gly30625=)
c.86952G>C (p.Gly28984=)
n.447-21453C>G
n.2043+7486C>G
c.90972G>C (p.Gly30324=)
c.64866G>C (p.Gly21622=)
c.64725G>C (p.Gly21575=)
c.90768G>C (p.Gly30256=)
c.86166G>C (p.Gly28722=)
c.86163G>C (p.Gly28721=)
c.83205G>C (p.Gly27735=)
c.64821G>C (p.Gly21607=)
c.86316G>C (p.Gly28772=)
c.86313G>C (p.Gly28771=)
c.85746G>C (p.Gly28582=)
c.83088G>C (p.Gly27696=)
c.83007G>C (p.Gly27669=)
c.64770G>C (p.Gly21590=)
c.54624G>C (p.Gly18208=)
2g.178549847C>TCA430244863TTN,TTN-AS1c.84171G>A (p.Gly28057=)
c.65256G>A (p.Gly21752=)
c.65055G>A (p.Gly21685=)
c.64680G>A (p.Gly21560=)
c.91875G>A (p.Gly30625=)
c.86952G>A (p.Gly28984=)
n.447-21453C>T
n.2043+7486C>T
c.90972G>A (p.Gly30324=)
c.64866G>A (p.Gly21622=)
c.64725G>A (p.Gly21575=)
c.90768G>A (p.Gly30256=)
c.86166G>A (p.Gly28722=)
c.86163G>A (p.Gly28721=)
c.83205G>A (p.Gly27735=)
c.64821G>A (p.Gly21607=)
c.86316G>A (p.Gly28772=)
c.86313G>A (p.Gly28771=)
c.85746G>A (p.Gly28582=)
c.83088G>A (p.Gly27696=)
c.83007G>A (p.Gly27669=)
c.64770G>A (p.Gly21590=)
c.54624G>A (p.Gly18208=)
 dbSNP gnomAD v3 gnomAD v4
2g.178549849delCA309455TTN,TTN-AS1c.84171del (p.Pro28058GlnfsTer2)
c.65256del (p.Pro21753GlnfsTer2)
c.65055del (p.Pro21686GlnfsTer2)
c.64680del (p.Pro21561GlnfsTer2)
c.91875del (p.Pro30626GlnfsTer2)
c.86952del (p.Pro28985GlnfsTer2)
n.447-21451del
n.2043+7488del
c.90972del (p.Pro30325GlnfsTer2)
c.64866del (p.Pro21623GlnfsTer2)
c.64725del (p.Pro21576GlnfsTer2)
c.90768del (p.Pro30257GlnfsTer2)
c.86166del (p.Pro28723GlnfsTer2)
c.86163del (p.Pro28722GlnfsTer2)
c.83205del (p.Pro27736GlnfsTer2)
c.64821del (p.Pro21608GlnfsTer2)
c.86316del (p.Pro28773GlnfsTer2)
c.86313del (p.Pro28772GlnfsTer2)
c.85746del (p.Pro28583GlnfsTer2)
c.83088del (p.Pro27697GlnfsTer2)
c.83007del (p.Pro27670GlnfsTer2)
c.64770del (p.Pro21591GlnfsTer2)
c.54624del (p.Pro18209GlnfsTer2)
 ClinVar dbSNP ExAC gnomAD v2
2g.178549848C>ACA349496302TTN,TTN-AS1c.84170G>T (p.Gly28057Val)
c.65255G>T (p.Gly21752Val)
c.65054G>T (p.Gly21685Val)
c.64679G>T (p.Gly21560Val)
c.91874G>T (p.Gly30625Val)
c.86951G>T (p.Gly28984Val)
n.447-21452C>A
n.2043+7487C>A
c.90971G>T (p.Gly30324Val)
c.64865G>T (p.Gly21622Val)
c.64724G>T (p.Gly21575Val)
c.90767G>T (p.Gly30256Val)
c.86165G>T (p.Gly28722Val)
c.86162G>T (p.Gly28721Val)
c.83204G>T (p.Gly27735Val)
c.64820G>T (p.Gly21607Val)
c.86315G>T (p.Gly28772Val)
c.86312G>T (p.Gly28771Val)
c.85745G>T (p.Gly28582Val)
c.83087G>T (p.Gly27696Val)
c.83006G>T (p.Gly27669Val)
c.64769G>T (p.Gly21590Val)
c.54623G>T (p.Gly18208Val)
2g.178549848C>GCA349496303TTN,TTN-AS1c.84170G>C (p.Gly28057Ala)
c.65255G>C (p.Gly21752Ala)
c.65054G>C (p.Gly21685Ala)
c.64679G>C (p.Gly21560Ala)
c.91874G>C (p.Gly30625Ala)
c.86951G>C (p.Gly28984Ala)
n.447-21452C>G
n.2043+7487C>G
c.90971G>C (p.Gly30324Ala)
c.64865G>C (p.Gly21622Ala)
c.64724G>C (p.Gly21575Ala)
c.90767G>C (p.Gly30256Ala)
c.86165G>C (p.Gly28722Ala)
c.86162G>C (p.Gly28721Ala)
c.83204G>C (p.Gly27735Ala)
c.64820G>C (p.Gly21607Ala)
c.86315G>C (p.Gly28772Ala)
c.86312G>C (p.Gly28771Ala)
c.85745G>C (p.Gly28582Ala)
c.83087G>C (p.Gly27696Ala)
c.83006G>C (p.Gly27669Ala)
c.64769G>C (p.Gly21590Ala)
c.54623G>C (p.Gly18208Ala)
2g.178549848C>TCA349496301TTN,TTN-AS1c.84170G>A (p.Gly28057Glu)
c.65255G>A (p.Gly21752Glu)
c.65054G>A (p.Gly21685Glu)
c.64679G>A (p.Gly21560Glu)
c.91874G>A (p.Gly30625Glu)
c.86951G>A (p.Gly28984Glu)
n.447-21452C>T
n.2043+7487C>T
c.90971G>A (p.Gly30324Glu)
c.64865G>A (p.Gly21622Glu)
c.64724G>A (p.Gly21575Glu)
c.90767G>A (p.Gly30256Glu)
c.86165G>A (p.Gly28722Glu)
c.86162G>A (p.Gly28721Glu)
c.83204G>A (p.Gly27735Glu)
c.64820G>A (p.Gly21607Glu)
c.86315G>A (p.Gly28772Glu)
c.86312G>A (p.Gly28771Glu)
c.85745G>A (p.Gly28582Glu)
c.83087G>A (p.Gly27696Glu)
c.83006G>A (p.Gly27669Glu)
c.64769G>A (p.Gly21590Glu)
c.54623G>A (p.Gly18208Glu)
2g.178549849C>ACA349496304TTN,TTN-AS1c.84169G>T (p.Gly28057Trp)
c.65254G>T (p.Gly21752Trp)
c.65053G>T (p.Gly21685Trp)
c.64678G>T (p.Gly21560Trp)
c.91873G>T (p.Gly30625Trp)
c.86950G>T (p.Gly28984Trp)
n.447-21451C>A
n.2043+7488C>A
c.90970G>T (p.Gly30324Trp)
c.64864G>T (p.Gly21622Trp)
c.64723G>T (p.Gly21575Trp)
c.90766G>T (p.Gly30256Trp)
c.86164G>T (p.Gly28722Trp)
c.86161G>T (p.Gly28721Trp)
c.83203G>T (p.Gly27735Trp)
c.64819G>T (p.Gly21607Trp)
c.86314G>T (p.Gly28772Trp)
c.86311G>T (p.Gly28771Trp)
c.85744G>T (p.Gly28582Trp)
c.83086G>T (p.Gly27696Trp)
c.83005G>T (p.Gly27669Trp)
c.64768G>T (p.Gly21590Trp)
c.54622G>T (p.Gly18208Trp)
2g.178549849C>GCA349496305TTN,TTN-AS1c.84169G>C (p.Gly28057Arg)
c.65254G>C (p.Gly21752Arg)
c.65053G>C (p.Gly21685Arg)
c.64678G>C (p.Gly21560Arg)
c.91873G>C (p.Gly30625Arg)
c.86950G>C (p.Gly28984Arg)
n.447-21451C>G
n.2043+7488C>G
c.90970G>C (p.Gly30324Arg)
c.64864G>C (p.Gly21622Arg)
c.64723G>C (p.Gly21575Arg)
c.90766G>C (p.Gly30256Arg)
c.86164G>C (p.Gly28722Arg)
c.86161G>C (p.Gly28721Arg)
c.83203G>C (p.Gly27735Arg)
c.64819G>C (p.Gly21607Arg)
c.86314G>C (p.Gly28772Arg)
c.86311G>C (p.Gly28771Arg)
c.85744G>C (p.Gly28582Arg)
c.83086G>C (p.Gly27696Arg)
c.83005G>C (p.Gly27669Arg)
c.64768G>C (p.Gly21590Arg)
c.54622G>C (p.Gly18208Arg)
2g.178549849C>TCA349496309TTN,TTN-AS1c.84169G>A (p.Gly28057Arg)
c.65254G>A (p.Gly21752Arg)
c.65053G>A (p.Gly21685Arg)
c.64678G>A (p.Gly21560Arg)
c.91873G>A (p.Gly30625Arg)
c.86950G>A (p.Gly28984Arg)
n.447-21451C>T
n.2043+7488C>T
c.90970G>A (p.Gly30324Arg)
c.64864G>A (p.Gly21622Arg)
c.64723G>A (p.Gly21575Arg)
c.90766G>A (p.Gly30256Arg)
c.86164G>A (p.Gly28722Arg)
c.86161G>A (p.Gly28721Arg)
c.83203G>A (p.Gly27735Arg)
c.64819G>A (p.Gly21607Arg)
c.86314G>A (p.Gly28772Arg)
c.86311G>A (p.Gly28771Arg)
c.85744G>A (p.Gly28582Arg)
c.83086G>A (p.Gly27696Arg)
c.83005G>A (p.Gly27669Arg)
c.64768G>A (p.Gly21590Arg)
c.54622G>A (p.Gly18208Arg)
 gnomAD v4
2g.178549850A=CA1310520138TTN,TTN-AS1c.84168T= (p.Val28056=)
c.65253T= (p.Val21751=)
c.65052T= (p.Val21684=)
c.64677T= (p.Val21559=)
c.91872T= (p.Val30624=)
c.86949T= (p.Val28983=)
n.447-21450A=
n.2043+7489A=
c.90969T= (p.Val30323=)
c.64863T= (p.Val21621=)
c.64722T= (p.Val21574=)
c.90765T= (p.Val30255=)
c.86163T= (p.Val28721=)
c.86160T= (p.Val28720=)
c.83202T= (p.Val27734=)
c.64818T= (p.Val21606=)
c.86313T= (p.Val28771=)
c.86310T= (p.Val28770=)
c.85743T= (p.Val28581=)
c.83085T= (p.Val27695=)
c.83004T= (p.Val27668=)
c.64767T= (p.Val21589=)
c.54621T= (p.Val18207=)
2g.178549850A>CCA430244864TTN,TTN-AS1c.84168T>G (p.Val28056=)
c.65253T>G (p.Val21751=)
c.65052T>G (p.Val21684=)
c.64677T>G (p.Val21559=)
c.91872T>G (p.Val30624=)
c.86949T>G (p.Val28983=)
n.447-21450A>C
n.2043+7489A>C
c.90969T>G (p.Val30323=)
c.64863T>G (p.Val21621=)
c.64722T>G (p.Val21574=)
c.90765T>G (p.Val30255=)
c.86163T>G (p.Val28721=)
c.86160T>G (p.Val28720=)
c.83202T>G (p.Val27734=)
c.64818T>G (p.Val21606=)
c.86313T>G (p.Val28771=)
c.86310T>G (p.Val28770=)
c.85743T>G (p.Val28581=)
c.83085T>G (p.Val27695=)
c.83004T>G (p.Val27668=)
c.64767T>G (p.Val21589=)
c.54621T>G (p.Val18207=)
2g.178549850A>GCA430244866TTN,TTN-AS1c.84168T>C (p.Val28056=)
c.65253T>C (p.Val21751=)
c.65052T>C (p.Val21684=)
c.64677T>C (p.Val21559=)
c.91872T>C (p.Val30624=)
c.86949T>C (p.Val28983=)
n.447-21450A>G
n.2043+7489A>G
c.90969T>C (p.Val30323=)
c.64863T>C (p.Val21621=)
c.64722T>C (p.Val21574=)
c.90765T>C (p.Val30255=)
c.86163T>C (p.Val28721=)
c.86160T>C (p.Val28720=)
c.83202T>C (p.Val27734=)
c.64818T>C (p.Val21606=)
c.86313T>C (p.Val28771=)
c.86310T>C (p.Val28770=)
c.85743T>C (p.Val28581=)
c.83085T>C (p.Val27695=)
c.83004T>C (p.Val27668=)
c.64767T>C (p.Val21589=)
c.54621T>C (p.Val18207=)
2g.178549850A>TCA430244865TTN,TTN-AS1c.84168T>A (p.Val28056=)
c.65253T>A (p.Val21751=)
c.65052T>A (p.Val21684=)
c.64677T>A (p.Val21559=)
c.91872T>A (p.Val30624=)
c.86949T>A (p.Val28983=)
n.447-21450A>T
n.2043+7489A>T
c.90969T>A (p.Val30323=)
c.64863T>A (p.Val21621=)
c.64722T>A (p.Val21574=)
c.90765T>A (p.Val30255=)
c.86163T>A (p.Val28721=)
c.86160T>A (p.Val28720=)
c.83202T>A (p.Val27734=)
c.64818T>A (p.Val21606=)
c.86313T>A (p.Val28771=)
c.86310T>A (p.Val28770=)
c.85743T>A (p.Val28581=)
c.83085T>A (p.Val27695=)
c.83004T>A (p.Val27668=)
c.64767T>A (p.Val21589=)
c.54621T>A (p.Val18207=)
 dbSNP
2g.178549851A=CA1310520139TTN,TTN-AS1c.84167T= (p.Val28056=)
c.65252T= (p.Val21751=)
c.65051T= (p.Val21684=)
c.64676T= (p.Val21559=)
c.91871T= (p.Val30624=)
c.86948T= (p.Val28983=)
n.447-21449A=
n.2043+7490A=
c.90968T= (p.Val30323=)
c.64862T= (p.Val21621=)
c.64721T= (p.Val21574=)
c.90764T= (p.Val30255=)
c.86162T= (p.Val28721=)
c.86159T= (p.Val28720=)
c.83201T= (p.Val27734=)
c.64817T= (p.Val21606=)
c.86312T= (p.Val28771=)
c.86309T= (p.Val28770=)
c.85742T= (p.Val28581=)
c.83084T= (p.Val27695=)
c.83003T= (p.Val27668=)
c.64766T= (p.Val21589=)
c.54620T= (p.Val18207=)
2g.178549851A>CCA349496312TTN,TTN-AS1c.84167T>G (p.Val28056Gly)
c.65252T>G (p.Val21751Gly)
c.65051T>G (p.Val21684Gly)
c.64676T>G (p.Val21559Gly)
c.91871T>G (p.Val30624Gly)
c.86948T>G (p.Val28983Gly)
n.447-21449A>C
n.2043+7490A>C
c.90968T>G (p.Val30323Gly)
c.64862T>G (p.Val21621Gly)
c.64721T>G (p.Val21574Gly)
c.90764T>G (p.Val30255Gly)
c.86162T>G (p.Val28721Gly)
c.86159T>G (p.Val28720Gly)
c.83201T>G (p.Val27734Gly)
c.64817T>G (p.Val21606Gly)
c.86312T>G (p.Val28771Gly)
c.86309T>G (p.Val28770Gly)
c.85742T>G (p.Val28581Gly)
c.83084T>G (p.Val27695Gly)
c.83003T>G (p.Val27668Gly)
c.64766T>G (p.Val21589Gly)
c.54620T>G (p.Val18207Gly)
2g.178549851A>GCA10611603TTN,TTN-AS1c.84167T>C (p.Val28056Ala)
c.65252T>C (p.Val21751Ala)
c.65051T>C (p.Val21684Ala)
c.64676T>C (p.Val21559Ala)
c.91871T>C (p.Val30624Ala)
c.86948T>C (p.Val28983Ala)
n.447-21449A>G
n.2043+7490A>G
c.90968T>C (p.Val30323Ala)
c.64862T>C (p.Val21621Ala)
c.64721T>C (p.Val21574Ala)
c.90764T>C (p.Val30255Ala)
c.86162T>C (p.Val28721Ala)
c.86159T>C (p.Val28720Ala)
c.83201T>C (p.Val27734Ala)
c.64817T>C (p.Val21606Ala)
c.86312T>C (p.Val28771Ala)
c.86309T>C (p.Val28770Ala)
c.85742T>C (p.Val28581Ala)
c.83084T>C (p.Val27695Ala)
c.83003T>C (p.Val27668Ala)
c.64766T>C (p.Val21589Ala)
c.54620T>C (p.Val18207Ala)
 ClinVar dbSNP gnomAD v4
2g.178549851A>TCA349496313TTN,TTN-AS1c.84167T>A (p.Val28056Asp)
c.65252T>A (p.Val21751Asp)
c.65051T>A (p.Val21684Asp)
c.64676T>A (p.Val21559Asp)
c.91871T>A (p.Val30624Asp)
c.86948T>A (p.Val28983Asp)
n.447-21449A>T
n.2043+7490A>T
c.90968T>A (p.Val30323Asp)
c.64862T>A (p.Val21621Asp)
c.64721T>A (p.Val21574Asp)
c.90764T>A (p.Val30255Asp)
c.86162T>A (p.Val28721Asp)
c.86159T>A (p.Val28720Asp)
c.83201T>A (p.Val27734Asp)
c.64817T>A (p.Val21606Asp)
c.86312T>A (p.Val28771Asp)
c.86309T>A (p.Val28770Asp)
c.85742T>A (p.Val28581Asp)
c.83084T>A (p.Val27695Asp)
c.83003T>A (p.Val27668Asp)
c.64766T>A (p.Val21589Asp)
c.54620T>A (p.Val18207Asp)
 COSMIC COSMIC COSMIC COSMIC
2g.178549852C>ACA349496314TTN,TTN-AS1c.84166G>T (p.Val28056Phe)
c.65251G>T (p.Val21751Phe)
c.65050G>T (p.Val21684Phe)
c.64675G>T (p.Val21559Phe)
c.91870G>T (p.Val30624Phe)
c.86947G>T (p.Val28983Phe)
n.447-21448C>A
n.2043+7491C>A
c.90967G>T (p.Val30323Phe)
c.64861G>T (p.Val21621Phe)
c.64720G>T (p.Val21574Phe)
c.90763G>T (p.Val30255Phe)
c.86161G>T (p.Val28721Phe)
c.86158G>T (p.Val28720Phe)
c.83200G>T (p.Val27734Phe)
c.64816G>T (p.Val21606Phe)
c.86311G>T (p.Val28771Phe)
c.86308G>T (p.Val28770Phe)
c.85741G>T (p.Val28581Phe)
c.83083G>T (p.Val27695Phe)
c.83002G>T (p.Val27668Phe)
c.64765G>T (p.Val21589Phe)
c.54619G>T (p.Val18207Phe)
 gnomAD v4
2g.178549852C=CA1310520140TTN,TTN-AS1c.84166G= (p.Val28056=)
c.65251G= (p.Val21751=)
c.65050G= (p.Val21684=)
c.64675G= (p.Val21559=)
c.91870G= (p.Val30624=)
c.86947G= (p.Val28983=)
n.447-21448C=
n.2043+7491C=
c.90967G= (p.Val30323=)
c.64861G= (p.Val21621=)
c.64720G= (p.Val21574=)
c.90763G= (p.Val30255=)
c.86161G= (p.Val28721=)
c.86158G= (p.Val28720=)
c.83200G= (p.Val27734=)
c.64816G= (p.Val21606=)
c.86311G= (p.Val28771=)
c.86308G= (p.Val28770=)
c.85741G= (p.Val28581=)
c.83083G= (p.Val27695=)
c.83002G= (p.Val27668=)
c.64765G= (p.Val21589=)
c.54619G= (p.Val18207=)
2g.178549852C>GCA349496315TTN,TTN-AS1c.84166G>C (p.Val28056Leu)
c.65251G>C (p.Val21751Leu)
c.65050G>C (p.Val21684Leu)
c.64675G>C (p.Val21559Leu)
c.91870G>C (p.Val30624Leu)
c.86947G>C (p.Val28983Leu)
n.447-21448C>G
n.2043+7491C>G
c.90967G>C (p.Val30323Leu)
c.64861G>C (p.Val21621Leu)
c.64720G>C (p.Val21574Leu)
c.90763G>C (p.Val30255Leu)
c.86161G>C (p.Val28721Leu)
c.86158G>C (p.Val28720Leu)
c.83200G>C (p.Val27734Leu)
c.64816G>C (p.Val21606Leu)
c.86311G>C (p.Val28771Leu)
c.86308G>C (p.Val28770Leu)
c.85741G>C (p.Val28581Leu)
c.83083G>C (p.Val27695Leu)
c.83002G>C (p.Val27668Leu)
c.64765G>C (p.Val21589Leu)
c.54619G>C (p.Val18207Leu)
2g.178549852C>TCA349496316TTN,TTN-AS1c.84166G>A (p.Val28056Ile)
c.65251G>A (p.Val21751Ile)
c.65050G>A (p.Val21684Ile)
c.64675G>A (p.Val21559Ile)
c.91870G>A (p.Val30624Ile)
c.86947G>A (p.Val28983Ile)
n.447-21448C>T
n.2043+7491C>T
c.90967G>A (p.Val30323Ile)
c.64861G>A (p.Val21621Ile)
c.64720G>A (p.Val21574Ile)
c.90763G>A (p.Val30255Ile)
c.86161G>A (p.Val28721Ile)
c.86158G>A (p.Val28720Ile)
c.83200G>A (p.Val27734Ile)
c.64816G>A (p.Val21606Ile)
c.86311G>A (p.Val28771Ile)
c.86308G>A (p.Val28770Ile)
c.85741G>A (p.Val28581Ile)
c.83083G>A (p.Val27695Ile)
c.83002G>A (p.Val27668Ile)
c.64765G>A (p.Val21589Ile)
c.54619G>A (p.Val18207Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178549853T>ACA430244867TTN,TTN-AS1c.84165A>T (p.Val28055=)
c.65250A>T (p.Val21750=)
c.65049A>T (p.Val21683=)
c.64674A>T (p.Val21558=)
c.91869A>T (p.Val30623=)
c.86946A>T (p.Val28982=)
n.447-21447T>A
n.2043+7492T>A
c.90966A>T (p.Val30322=)
c.64860A>T (p.Val21620=)
c.64719A>T (p.Val21573=)
c.90762A>T (p.Val30254=)
c.86160A>T (p.Val28720=)
c.86157A>T (p.Val28719=)
c.83199A>T (p.Val27733=)
c.64815A>T (p.Val21605=)
c.86310A>T (p.Val28770=)
c.86307A>T (p.Val28769=)
c.85740A>T (p.Val28580=)
c.83082A>T (p.Val27694=)
c.83001A>T (p.Val27667=)
c.64764A>T (p.Val21588=)
c.54618A>T (p.Val18206=)
2g.178549853T>CCA430244868TTN,TTN-AS1c.84165A>G (p.Val28055=)
c.65250A>G (p.Val21750=)
c.65049A>G (p.Val21683=)
c.64674A>G (p.Val21558=)
c.91869A>G (p.Val30623=)
c.86946A>G (p.Val28982=)
n.447-21447T>C
n.2043+7492T>C
c.90966A>G (p.Val30322=)
c.64860A>G (p.Val21620=)
c.64719A>G (p.Val21573=)
c.90762A>G (p.Val30254=)
c.86160A>G (p.Val28720=)
c.86157A>G (p.Val28719=)
c.83199A>G (p.Val27733=)
c.64815A>G (p.Val21605=)
c.86310A>G (p.Val28770=)
c.86307A>G (p.Val28769=)
c.85740A>G (p.Val28580=)
c.83082A>G (p.Val27694=)
c.83001A>G (p.Val27667=)
c.64764A>G (p.Val21588=)
c.54618A>G (p.Val18206=)
 ClinVar
2g.178549853T>GCA430244869TTN,TTN-AS1c.84165A>C (p.Val28055=)
c.65250A>C (p.Val21750=)
c.65049A>C (p.Val21683=)
c.64674A>C (p.Val21558=)
c.91869A>C (p.Val30623=)
c.86946A>C (p.Val28982=)
n.447-21447T>G
n.2043+7492T>G
c.90966A>C (p.Val30322=)
c.64860A>C (p.Val21620=)
c.64719A>C (p.Val21573=)
c.90762A>C (p.Val30254=)
c.86160A>C (p.Val28720=)
c.86157A>C (p.Val28719=)
c.83199A>C (p.Val27733=)
c.64815A>C (p.Val21605=)
c.86310A>C (p.Val28770=)
c.86307A>C (p.Val28769=)
c.85740A>C (p.Val28580=)
c.83082A>C (p.Val27694=)
c.83001A>C (p.Val27667=)
c.64764A>C (p.Val21588=)
c.54618A>C (p.Val18206=)
2g.178549854A=CA1310520141TTN,TTN-AS1c.84164T= (p.Val28055=)
c.65249T= (p.Val21750=)
c.65048T= (p.Val21683=)
c.64673T= (p.Val21558=)
c.91868T= (p.Val30623=)
c.86945T= (p.Val28982=)
n.447-21446A=
n.2043+7493A=
c.90965T= (p.Val30322=)
c.64859T= (p.Val21620=)
c.64718T= (p.Val21573=)
c.90761T= (p.Val30254=)
c.86159T= (p.Val28720=)
c.86156T= (p.Val28719=)
c.83198T= (p.Val27733=)
c.64814T= (p.Val21605=)
c.86309T= (p.Val28770=)
c.86306T= (p.Val28769=)
c.85739T= (p.Val28580=)
c.83081T= (p.Val27694=)
c.83000T= (p.Val27667=)
c.64763T= (p.Val21588=)
c.54617T= (p.Val18206=)
2g.178549854A>CCA349496319TTN,TTN-AS1c.84164T>G (p.Val28055Gly)
c.65249T>G (p.Val21750Gly)
c.65048T>G (p.Val21683Gly)
c.64673T>G (p.Val21558Gly)
c.91868T>G (p.Val30623Gly)
c.86945T>G (p.Val28982Gly)
n.447-21446A>C
n.2043+7493A>C
c.90965T>G (p.Val30322Gly)
c.64859T>G (p.Val21620Gly)
c.64718T>G (p.Val21573Gly)
c.90761T>G (p.Val30254Gly)
c.86159T>G (p.Val28720Gly)
c.86156T>G (p.Val28719Gly)
c.83198T>G (p.Val27733Gly)
c.64814T>G (p.Val21605Gly)
c.86309T>G (p.Val28770Gly)
c.86306T>G (p.Val28769Gly)
c.85739T>G (p.Val28580Gly)
c.83081T>G (p.Val27694Gly)
c.83000T>G (p.Val27667Gly)
c.64763T>G (p.Val21588Gly)
c.54617T>G (p.Val18206Gly)
2g.178549854A>GCA349496322TTN,TTN-AS1c.84164T>C (p.Val28055Ala)
c.65249T>C (p.Val21750Ala)
c.65048T>C (p.Val21683Ala)
c.64673T>C (p.Val21558Ala)
c.91868T>C (p.Val30623Ala)
c.86945T>C (p.Val28982Ala)
n.447-21446A>G
n.2043+7493A>G
c.90965T>C (p.Val30322Ala)
c.64859T>C (p.Val21620Ala)
c.64718T>C (p.Val21573Ala)
c.90761T>C (p.Val30254Ala)
c.86159T>C (p.Val28720Ala)
c.86156T>C (p.Val28719Ala)
c.83198T>C (p.Val27733Ala)
c.64814T>C (p.Val21605Ala)
c.86309T>C (p.Val28770Ala)
c.86306T>C (p.Val28769Ala)
c.85739T>C (p.Val28580Ala)
c.83081T>C (p.Val27694Ala)
c.83000T>C (p.Val27667Ala)
c.64763T>C (p.Val21588Ala)
c.54617T>C (p.Val18206Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178549854A>TCA349496327TTN,TTN-AS1c.84164T>A (p.Val28055Glu)
c.65249T>A (p.Val21750Glu)
c.65048T>A (p.Val21683Glu)
c.64673T>A (p.Val21558Glu)
c.91868T>A (p.Val30623Glu)
c.86945T>A (p.Val28982Glu)
n.447-21446A>T
n.2043+7493A>T
c.90965T>A (p.Val30322Glu)
c.64859T>A (p.Val21620Glu)
c.64718T>A (p.Val21573Glu)
c.90761T>A (p.Val30254Glu)
c.86159T>A (p.Val28720Glu)
c.86156T>A (p.Val28719Glu)
c.83198T>A (p.Val27733Glu)
c.64814T>A (p.Val21605Glu)
c.86309T>A (p.Val28770Glu)
c.86306T>A (p.Val28769Glu)
c.85739T>A (p.Val28580Glu)
c.83081T>A (p.Val27694Glu)
c.83000T>A (p.Val27667Glu)
c.64763T>A (p.Val21588Glu)
c.54617T>A (p.Val18206Glu)
2g.178549855C>ACA349496339TTN,TTN-AS1c.84163G>T (p.Val28055Leu)
c.65248G>T (p.Val21750Leu)
c.65047G>T (p.Val21683Leu)
c.64672G>T (p.Val21558Leu)
c.91867G>T (p.Val30623Leu)
c.86944G>T (p.Val28982Leu)
n.447-21445C>A
n.2043+7494C>A
c.90964G>T (p.Val30322Leu)
c.64858G>T (p.Val21620Leu)
c.64717G>T (p.Val21573Leu)
c.90760G>T (p.Val30254Leu)
c.86158G>T (p.Val28720Leu)
c.86155G>T (p.Val28719Leu)
c.83197G>T (p.Val27733Leu)
c.64813G>T (p.Val21605Leu)
c.86308G>T (p.Val28770Leu)
c.86305G>T (p.Val28769Leu)
c.85738G>T (p.Val28580Leu)
c.83080G>T (p.Val27694Leu)
c.82999G>T (p.Val27667Leu)
c.64762G>T (p.Val21588Leu)
c.54616G>T (p.Val18206Leu)
2g.178549855C>GCA349496335TTN,TTN-AS1c.84163G>C (p.Val28055Leu)
c.65248G>C (p.Val21750Leu)
c.65047G>C (p.Val21683Leu)
c.64672G>C (p.Val21558Leu)
c.91867G>C (p.Val30623Leu)
c.86944G>C (p.Val28982Leu)
n.447-21445C>G
n.2043+7494C>G
c.90964G>C (p.Val30322Leu)
c.64858G>C (p.Val21620Leu)
c.64717G>C (p.Val21573Leu)
c.90760G>C (p.Val30254Leu)
c.86158G>C (p.Val28720Leu)
c.86155G>C (p.Val28719Leu)
c.83197G>C (p.Val27733Leu)
c.64813G>C (p.Val21605Leu)
c.86308G>C (p.Val28770Leu)
c.86305G>C (p.Val28769Leu)
c.85738G>C (p.Val28580Leu)
c.83080G>C (p.Val27694Leu)
c.82999G>C (p.Val27667Leu)
c.64762G>C (p.Val21588Leu)
c.54616G>C (p.Val18206Leu)
2g.178549855C>TCA349496332TTN,TTN-AS1c.84163G>A (p.Val28055Ile)
c.65248G>A (p.Val21750Ile)
c.65047G>A (p.Val21683Ile)
c.64672G>A (p.Val21558Ile)
c.91867G>A (p.Val30623Ile)
c.86944G>A (p.Val28982Ile)
n.447-21445C>T
n.2043+7494C>T
c.90964G>A (p.Val30322Ile)
c.64858G>A (p.Val21620Ile)
c.64717G>A (p.Val21573Ile)
c.90760G>A (p.Val30254Ile)
c.86158G>A (p.Val28720Ile)
c.86155G>A (p.Val28719Ile)
c.83197G>A (p.Val27733Ile)
c.64813G>A (p.Val21605Ile)
c.86308G>A (p.Val28770Ile)
c.86305G>A (p.Val28769Ile)
c.85738G>A (p.Val28580Ile)
c.83080G>A (p.Val27694Ile)
c.82999G>A (p.Val27667Ile)
c.64762G>A (p.Val21588Ile)
c.54616G>A (p.Val18206Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178549856T>ACA349496346TTN,TTN-AS1c.84162A>T (p.Lys28054Asn)
c.65247A>T (p.Lys21749Asn)
c.65046A>T (p.Lys21682Asn)
c.64671A>T (p.Lys21557Asn)
c.91866A>T (p.Lys30622Asn)
c.86943A>T (p.Lys28981Asn)
n.447-21444T>A
n.2043+7495T>A
c.90963A>T (p.Lys30321Asn)
c.64857A>T (p.Lys21619Asn)
c.64716A>T (p.Lys21572Asn)
c.90759A>T (p.Lys30253Asn)
c.86157A>T (p.Lys28719Asn)
c.86154A>T (p.Lys28718Asn)
c.83196A>T (p.Lys27732Asn)
c.64812A>T (p.Lys21604Asn)
c.86307A>T (p.Lys28769Asn)
c.86304A>T (p.Lys28768Asn)
c.85737A>T (p.Lys28579Asn)
c.83079A>T (p.Lys27693Asn)
c.82998A>T (p.Lys27666Asn)
c.64761A>T (p.Lys21587Asn)
c.54615A>T (p.Lys18205Asn)
2g.178549856T>CCA430244870TTN,TTN-AS1c.84162A>G (p.Lys28054=)
c.65247A>G (p.Lys21749=)
c.65046A>G (p.Lys21682=)
c.64671A>G (p.Lys21557=)
c.91866A>G (p.Lys30622=)
c.86943A>G (p.Lys28981=)
n.447-21444T>C
n.2043+7495T>C
c.90963A>G (p.Lys30321=)
c.64857A>G (p.Lys21619=)
c.64716A>G (p.Lys21572=)
c.90759A>G (p.Lys30253=)
c.86157A>G (p.Lys28719=)
c.86154A>G (p.Lys28718=)
c.83196A>G (p.Lys27732=)
c.64812A>G (p.Lys21604=)
c.86307A>G (p.Lys28769=)
c.86304A>G (p.Lys28768=)
c.85737A>G (p.Lys28579=)
c.83079A>G (p.Lys27693=)
c.82998A>G (p.Lys27666=)
c.64761A>G (p.Lys21587=)
c.54615A>G (p.Lys18205=)
2g.178549856T>GCA349496350TTN,TTN-AS1c.84162A>C (p.Lys28054Asn)
c.65247A>C (p.Lys21749Asn)
c.65046A>C (p.Lys21682Asn)
c.64671A>C (p.Lys21557Asn)
c.91866A>C (p.Lys30622Asn)
c.86943A>C (p.Lys28981Asn)
n.447-21444T>G
n.2043+7495T>G
c.90963A>C (p.Lys30321Asn)
c.64857A>C (p.Lys21619Asn)
c.64716A>C (p.Lys21572Asn)
c.90759A>C (p.Lys30253Asn)
c.86157A>C (p.Lys28719Asn)
c.86154A>C (p.Lys28718Asn)
c.83196A>C (p.Lys27732Asn)
c.64812A>C (p.Lys21604Asn)
c.86307A>C (p.Lys28769Asn)
c.86304A>C (p.Lys28768Asn)
c.85737A>C (p.Lys28579Asn)
c.83079A>C (p.Lys27693Asn)
c.82998A>C (p.Lys27666Asn)
c.64761A>C (p.Lys21587Asn)
c.54615A>C (p.Lys18205Asn)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178549857T>ACA349496360TTN,TTN-AS1c.84161A>T (p.Lys28054Ile)
c.65246A>T (p.Lys21749Ile)
c.65045A>T (p.Lys21682Ile)
c.64670A>T (p.Lys21557Ile)
c.91865A>T (p.Lys30622Ile)
c.86942A>T (p.Lys28981Ile)
n.447-21443T>A
n.2043+7496T>A
c.90962A>T (p.Lys30321Ile)
c.64856A>T (p.Lys21619Ile)
c.64715A>T (p.Lys21572Ile)
c.90758A>T (p.Lys30253Ile)
c.86156A>T (p.Lys28719Ile)
c.86153A>T (p.Lys28718Ile)
c.83195A>T (p.Lys27732Ile)
c.64811A>T (p.Lys21604Ile)
c.86306A>T (p.Lys28769Ile)
c.86303A>T (p.Lys28768Ile)
c.85736A>T (p.Lys28579Ile)
c.83078A>T (p.Lys27693Ile)
c.82997A>T (p.Lys27666Ile)
c.64760A>T (p.Lys21587Ile)
c.54614A>T (p.Lys18205Ile)
2g.178549857T>CCA349496369TTN,TTN-AS1c.84161A>G (p.Lys28054Arg)
c.65246A>G (p.Lys21749Arg)
c.65045A>G (p.Lys21682Arg)
c.64670A>G (p.Lys21557Arg)
c.91865A>G (p.Lys30622Arg)
c.86942A>G (p.Lys28981Arg)
n.447-21443T>C
n.2043+7496T>C
c.90962A>G (p.Lys30321Arg)
c.64856A>G (p.Lys21619Arg)
c.64715A>G (p.Lys21572Arg)
c.90758A>G (p.Lys30253Arg)
c.86156A>G (p.Lys28719Arg)
c.86153A>G (p.Lys28718Arg)
c.83195A>G (p.Lys27732Arg)
c.64811A>G (p.Lys21604Arg)
c.86306A>G (p.Lys28769Arg)
c.86303A>G (p.Lys28768Arg)
c.85736A>G (p.Lys28579Arg)
c.83078A>G (p.Lys27693Arg)
c.82997A>G (p.Lys27666Arg)
c.64760A>G (p.Lys21587Arg)
c.54614A>G (p.Lys18205Arg)
2g.178549857T>GCA349496371TTN,TTN-AS1c.84161A>C (p.Lys28054Thr)
c.65246A>C (p.Lys21749Thr)
c.65045A>C (p.Lys21682Thr)
c.64670A>C (p.Lys21557Thr)
c.91865A>C (p.Lys30622Thr)
c.86942A>C (p.Lys28981Thr)
n.447-21443T>G
n.2043+7496T>G
c.90962A>C (p.Lys30321Thr)
c.64856A>C (p.Lys21619Thr)
c.64715A>C (p.Lys21572Thr)
c.90758A>C (p.Lys30253Thr)
c.86156A>C (p.Lys28719Thr)
c.86153A>C (p.Lys28718Thr)
c.83195A>C (p.Lys27732Thr)
c.64811A>C (p.Lys21604Thr)
c.86306A>C (p.Lys28769Thr)
c.86303A>C (p.Lys28768Thr)
c.85736A>C (p.Lys28579Thr)
c.83078A>C (p.Lys27693Thr)
c.82997A>C (p.Lys27666Thr)
c.64760A>C (p.Lys21587Thr)
c.54614A>C (p.Lys18205Thr)
2g.178549858T>ACA349496374TTN,TTN-AS1c.84160A>T (p.Lys28054Ter)
c.65245A>T (p.Lys21749Ter)
c.65044A>T (p.Lys21682Ter)
c.64669A>T (p.Lys21557Ter)
c.91864A>T (p.Lys30622Ter)
c.86941A>T (p.Lys28981Ter)
n.447-21442T>A
n.2043+7497T>A
c.90961A>T (p.Lys30321Ter)
c.64855A>T (p.Lys21619Ter)
c.64714A>T (p.Lys21572Ter)
c.90757A>T (p.Lys30253Ter)
c.86155A>T (p.Lys28719Ter)
c.86152A>T (p.Lys28718Ter)
c.83194A>T (p.Lys27732Ter)
c.64810A>T (p.Lys21604Ter)
c.86305A>T (p.Lys28769Ter)
c.86302A>T (p.Lys28768Ter)
c.85735A>T (p.Lys28579Ter)
c.83077A>T (p.Lys27693Ter)
c.82996A>T (p.Lys27666Ter)
c.64759A>T (p.Lys21587Ter)
c.54613A>T (p.Lys18205Ter)
2g.178549858T>CCA60974967TTN,TTN-AS1c.84160A>G (p.Lys28054Glu)
c.65245A>G (p.Lys21749Glu)
c.65044A>G (p.Lys21682Glu)
c.64669A>G (p.Lys21557Glu)
c.91864A>G (p.Lys30622Glu)
c.86941A>G (p.Lys28981Glu)
n.447-21442T>C
n.2043+7497T>C
c.90961A>G (p.Lys30321Glu)
c.64855A>G (p.Lys21619Glu)
c.64714A>G (p.Lys21572Glu)
c.90757A>G (p.Lys30253Glu)
c.86155A>G (p.Lys28719Glu)
c.86152A>G (p.Lys28718Glu)
c.83194A>G (p.Lys27732Glu)
c.64810A>G (p.Lys21604Glu)
c.86305A>G (p.Lys28769Glu)
c.86302A>G (p.Lys28768Glu)
c.85735A>G (p.Lys28579Glu)
c.83077A>G (p.Lys27693Glu)
c.82996A>G (p.Lys27666Glu)
c.64759A>G (p.Lys21587Glu)
c.54613A>G (p.Lys18205Glu)
 dbSNP gnomAD v4
2g.178549858T>GCA349496392TTN,TTN-AS1c.84160A>C (p.Lys28054Gln)
c.65245A>C (p.Lys21749Gln)
c.65044A>C (p.Lys21682Gln)
c.64669A>C (p.Lys21557Gln)
c.91864A>C (p.Lys30622Gln)
c.86941A>C (p.Lys28981Gln)
n.447-21442T>G
n.2043+7497T>G
c.90961A>C (p.Lys30321Gln)
c.64855A>C (p.Lys21619Gln)
c.64714A>C (p.Lys21572Gln)
c.90757A>C (p.Lys30253Gln)
c.86155A>C (p.Lys28719Gln)
c.86152A>C (p.Lys28718Gln)
c.83194A>C (p.Lys27732Gln)
c.64810A>C (p.Lys21604Gln)
c.86305A>C (p.Lys28769Gln)
c.86302A>C (p.Lys28768Gln)
c.85735A>C (p.Lys28579Gln)
c.83077A>C (p.Lys27693Gln)
c.82996A>C (p.Lys27666Gln)
c.64759A>C (p.Lys21587Gln)
c.54613A>C (p.Lys18205Gln)
 COSMIC COSMIC COSMIC COSMIC
2g.178549858T=CA1310520142TTN,TTN-AS1c.84160A= (p.Lys28054=)
c.65245A= (p.Lys21749=)
c.65044A= (p.Lys21682=)
c.64669A= (p.Lys21557=)
c.91864A= (p.Lys30622=)
c.86941A= (p.Lys28981=)
n.447-21442T=
n.2043+7497T=
c.90961A= (p.Lys30321=)
c.64855A= (p.Lys21619=)
c.64714A= (p.Lys21572=)
c.90757A= (p.Lys30253=)
c.86155A= (p.Lys28719=)
c.86152A= (p.Lys28718=)
c.83194A= (p.Lys27732=)
c.64810A= (p.Lys21604=)
c.86305A= (p.Lys28769=)
c.86302A= (p.Lys28768=)
c.85735A= (p.Lys28579=)
c.83077A= (p.Lys27693=)
c.82996A= (p.Lys27666=)
c.64759A= (p.Lys21587=)
c.54613A= (p.Lys18205=)
2g.178549859T>ACA430244871TTN,TTN-AS1c.84159A>T (p.Gly28053=)
c.65244A>T (p.Gly21748=)
c.65043A>T (p.Gly21681=)
c.64668A>T (p.Gly21556=)
c.91863A>T (p.Gly30621=)
c.86940A>T (p.Gly28980=)
n.447-21441T>A
n.2043+7498T>A
c.90960A>T (p.Gly30320=)
c.64854A>T (p.Gly21618=)
c.64713A>T (p.Gly21571=)
c.90756A>T (p.Gly30252=)
c.86154A>T (p.Gly28718=)
c.86151A>T (p.Gly28717=)
c.83193A>T (p.Gly27731=)
c.64809A>T (p.Gly21603=)
c.86304A>T (p.Gly28768=)
c.86301A>T (p.Gly28767=)
c.85734A>T (p.Gly28578=)
c.83076A>T (p.Gly27692=)
c.82995A>T (p.Gly27665=)
c.64758A>T (p.Gly21586=)
c.54612A>T (p.Gly18204=)
 gnomAD v4
2g.178549859T>CCA430244872TTN,TTN-AS1c.84159A>G (p.Gly28053=)
c.65244A>G (p.Gly21748=)
c.65043A>G (p.Gly21681=)
c.64668A>G (p.Gly21556=)
c.91863A>G (p.Gly30621=)
c.86940A>G (p.Gly28980=)
n.447-21441T>C
n.2043+7498T>C
c.90960A>G (p.Gly30320=)
c.64854A>G (p.Gly21618=)
c.64713A>G (p.Gly21571=)
c.90756A>G (p.Gly30252=)
c.86154A>G (p.Gly28718=)
c.86151A>G (p.Gly28717=)
c.83193A>G (p.Gly27731=)
c.64809A>G (p.Gly21603=)
c.86304A>G (p.Gly28768=)
c.86301A>G (p.Gly28767=)
c.85734A>G (p.Gly28578=)
c.83076A>G (p.Gly27692=)
c.82995A>G (p.Gly27665=)
c.64758A>G (p.Gly21586=)
c.54612A>G (p.Gly18204=)
2g.178549859T>GCA430244873TTN,TTN-AS1c.84159A>C (p.Gly28053=)
c.65244A>C (p.Gly21748=)
c.65043A>C (p.Gly21681=)
c.64668A>C (p.Gly21556=)
c.91863A>C (p.Gly30621=)
c.86940A>C (p.Gly28980=)
n.447-21441T>G
n.2043+7498T>G
c.90960A>C (p.Gly30320=)
c.64854A>C (p.Gly21618=)
c.64713A>C (p.Gly21571=)
c.90756A>C (p.Gly30252=)
c.86154A>C (p.Gly28718=)
c.86151A>C (p.Gly28717=)
c.83193A>C (p.Gly27731=)
c.64809A>C (p.Gly21603=)
c.86304A>C (p.Gly28768=)
c.86301A>C (p.Gly28767=)
c.85734A>C (p.Gly28578=)
c.83076A>C (p.Gly27692=)
c.82995A>C (p.Gly27665=)
c.64758A>C (p.Gly21586=)
c.54612A>C (p.Gly18204=)
2g.178549860C>ACA349496396TTN,TTN-AS1c.84158G>T (p.Gly28053Val)
c.65243G>T (p.Gly21748Val)
c.65042G>T (p.Gly21681Val)
c.64667G>T (p.Gly21556Val)
c.91862G>T (p.Gly30621Val)
c.86939G>T (p.Gly28980Val)
n.447-21440C>A
n.2043+7499C>A
c.90959G>T (p.Gly30320Val)
c.64853G>T (p.Gly21618Val)
c.64712G>T (p.Gly21571Val)
c.90755G>T (p.Gly30252Val)
c.86153G>T (p.Gly28718Val)
c.86150G>T (p.Gly28717Val)
c.83192G>T (p.Gly27731Val)
c.64808G>T (p.Gly21603Val)
c.86303G>T (p.Gly28768Val)
c.86300G>T (p.Gly28767Val)
c.85733G>T (p.Gly28578Val)
c.83075G>T (p.Gly27692Val)
c.82994G>T (p.Gly27665Val)
c.64757G>T (p.Gly21586Val)
c.54611G>T (p.Gly18204Val)
2g.178549860C>GCA349496397TTN,TTN-AS1c.84158G>C (p.Gly28053Ala)
c.65243G>C (p.Gly21748Ala)
c.65042G>C (p.Gly21681Ala)
c.64667G>C (p.Gly21556Ala)
c.91862G>C (p.Gly30621Ala)
c.86939G>C (p.Gly28980Ala)
n.447-21440C>G
n.2043+7499C>G
c.90959G>C (p.Gly30320Ala)
c.64853G>C (p.Gly21618Ala)
c.64712G>C (p.Gly21571Ala)
c.90755G>C (p.Gly30252Ala)
c.86153G>C (p.Gly28718Ala)
c.86150G>C (p.Gly28717Ala)
c.83192G>C (p.Gly27731Ala)
c.64808G>C (p.Gly21603Ala)
c.86303G>C (p.Gly28768Ala)
c.86300G>C (p.Gly28767Ala)
c.85733G>C (p.Gly28578Ala)
c.83075G>C (p.Gly27692Ala)
c.82994G>C (p.Gly27665Ala)
c.64757G>C (p.Gly21586Ala)
c.54611G>C (p.Gly18204Ala)
2g.178549860C>TCA349496399TTN,TTN-AS1c.84158G>A (p.Gly28053Glu)
c.65243G>A (p.Gly21748Glu)
c.65042G>A (p.Gly21681Glu)
c.64667G>A (p.Gly21556Glu)
c.91862G>A (p.Gly30621Glu)
c.86939G>A (p.Gly28980Glu)
n.447-21440C>T
n.2043+7499C>T
c.90959G>A (p.Gly30320Glu)
c.64853G>A (p.Gly21618Glu)
c.64712G>A (p.Gly21571Glu)
c.90755G>A (p.Gly30252Glu)
c.86153G>A (p.Gly28718Glu)
c.86150G>A (p.Gly28717Glu)
c.83192G>A (p.Gly27731Glu)
c.64808G>A (p.Gly21603Glu)
c.86303G>A (p.Gly28768Glu)
c.86300G>A (p.Gly28767Glu)
c.85733G>A (p.Gly28578Glu)
c.83075G>A (p.Gly27692Glu)
c.82994G>A (p.Gly27665Glu)
c.64757G>A (p.Gly21586Glu)
c.54611G>A (p.Gly18204Glu)
 gnomAD v4
2g.178549861C>ACA349496404TTN,TTN-AS1c.84157G>T (p.Gly28053Ter)
c.65242G>T (p.Gly21748Ter)
c.65041G>T (p.Gly21681Ter)
c.64666G>T (p.Gly21556Ter)
c.91861G>T (p.Gly30621Ter)
c.86938G>T (p.Gly28980Ter)
n.447-21439C>A
n.2043+7500C>A
c.90958G>T (p.Gly30320Ter)
c.64852G>T (p.Gly21618Ter)
c.64711G>T (p.Gly21571Ter)
c.90754G>T (p.Gly30252Ter)
c.86152G>T (p.Gly28718Ter)
c.86149G>T (p.Gly28717Ter)
c.83191G>T (p.Gly27731Ter)
c.64807G>T (p.Gly21603Ter)
c.86302G>T (p.Gly28768Ter)
c.86299G>T (p.Gly28767Ter)
c.85732G>T (p.Gly28578Ter)
c.83074G>T (p.Gly27692Ter)
c.82993G>T (p.Gly27665Ter)
c.64756G>T (p.Gly21586Ter)
c.54610G>T (p.Gly18204Ter)
2g.178549861C>GCA349496415TTN,TTN-AS1c.84157G>C (p.Gly28053Arg)
c.65242G>C (p.Gly21748Arg)
c.65041G>C (p.Gly21681Arg)
c.64666G>C (p.Gly21556Arg)
c.91861G>C (p.Gly30621Arg)
c.86938G>C (p.Gly28980Arg)
n.447-21439C>G
n.2043+7500C>G
c.90958G>C (p.Gly30320Arg)
c.64852G>C (p.Gly21618Arg)
c.64711G>C (p.Gly21571Arg)
c.90754G>C (p.Gly30252Arg)
c.86152G>C (p.Gly28718Arg)
c.86149G>C (p.Gly28717Arg)
c.83191G>C (p.Gly27731Arg)
c.64807G>C (p.Gly21603Arg)
c.86302G>C (p.Gly28768Arg)
c.86299G>C (p.Gly28767Arg)
c.85732G>C (p.Gly28578Arg)
c.83074G>C (p.Gly27692Arg)
c.82993G>C (p.Gly27665Arg)
c.64756G>C (p.Gly21586Arg)
c.54610G>C (p.Gly18204Arg)
2g.178549861C>TCA349496418TTN,TTN-AS1c.84157G>A (p.Gly28053Arg)
c.65242G>A (p.Gly21748Arg)
c.65041G>A (p.Gly21681Arg)
c.64666G>A (p.Gly21556Arg)
c.91861G>A (p.Gly30621Arg)
c.86938G>A (p.Gly28980Arg)
n.447-21439C>T
n.2043+7500C>T
c.90958G>A (p.Gly30320Arg)
c.64852G>A (p.Gly21618Arg)
c.64711G>A (p.Gly21571Arg)
c.90754G>A (p.Gly30252Arg)
c.86152G>A (p.Gly28718Arg)
c.86149G>A (p.Gly28717Arg)
c.83191G>A (p.Gly27731Arg)
c.64807G>A (p.Gly21603Arg)
c.86302G>A (p.Gly28768Arg)
c.86299G>A (p.Gly28767Arg)
c.85732G>A (p.Gly28578Arg)
c.83074G>A (p.Gly27692Arg)
c.82993G>A (p.Gly27665Arg)
c.64756G>A (p.Gly21586Arg)
c.54610G>A (p.Gly18204Arg)
2g.178549862T>ACA430244877TTN,TTN-AS1c.84156A>T (p.Pro28052=)
c.65241A>T (p.Pro21747=)
c.65040A>T (p.Pro21680=)
c.64665A>T (p.Pro21555=)
c.91860A>T (p.Pro30620=)
c.86937A>T (p.Pro28979=)
n.447-21438T>A
n.2043+7501T>A
c.90957A>T (p.Pro30319=)
c.64851A>T (p.Pro21617=)
c.64710A>T (p.Pro21570=)
c.90753A>T (p.Pro30251=)
c.86151A>T (p.Pro28717=)
c.86148A>T (p.Pro28716=)
c.83190A>T (p.Pro27730=)
c.64806A>T (p.Pro21602=)
c.86301A>T (p.Pro28767=)
c.86298A>T (p.Pro28766=)
c.85731A>T (p.Pro28577=)
c.83073A>T (p.Pro27691=)
c.82992A>T (p.Pro27664=)
c.64755A>T (p.Pro21585=)
c.54609A>T (p.Pro18203=)
2g.178549862T>CCA430244876TTN,TTN-AS1c.84156A>G (p.Pro28052=)
c.65241A>G (p.Pro21747=)
c.65040A>G (p.Pro21680=)
c.64665A>G (p.Pro21555=)
c.91860A>G (p.Pro30620=)
c.86937A>G (p.Pro28979=)
n.447-21438T>C
n.2043+7501T>C
c.90957A>G (p.Pro30319=)
c.64851A>G (p.Pro21617=)
c.64710A>G (p.Pro21570=)
c.90753A>G (p.Pro30251=)
c.86151A>G (p.Pro28717=)
c.86148A>G (p.Pro28716=)
c.83190A>G (p.Pro27730=)
c.64806A>G (p.Pro21602=)
c.86301A>G (p.Pro28767=)
c.86298A>G (p.Pro28766=)
c.85731A>G (p.Pro28577=)
c.83073A>G (p.Pro27691=)
c.82992A>G (p.Pro27664=)
c.64755A>G (p.Pro21585=)
c.54609A>G (p.Pro18203=)
 gnomAD v4
2g.178549862T>GCA430244875TTN,TTN-AS1c.84156A>C (p.Pro28052=)
c.65241A>C (p.Pro21747=)
c.65040A>C (p.Pro21680=)
c.64665A>C (p.Pro21555=)
c.91860A>C (p.Pro30620=)
c.86937A>C (p.Pro28979=)
n.447-21438T>G
n.2043+7501T>G
c.90957A>C (p.Pro30319=)
c.64851A>C (p.Pro21617=)
c.64710A>C (p.Pro21570=)
c.90753A>C (p.Pro30251=)
c.86151A>C (p.Pro28717=)
c.86148A>C (p.Pro28716=)
c.83190A>C (p.Pro27730=)
c.64806A>C (p.Pro21602=)
c.86301A>C (p.Pro28767=)
c.86298A>C (p.Pro28766=)
c.85731A>C (p.Pro28577=)
c.83073A>C (p.Pro27691=)
c.82992A>C (p.Pro27664=)
c.64755A>C (p.Pro21585=)
c.54609A>C (p.Pro18203=)
2g.178549863G>ACA349496432TTN,TTN-AS1c.84155C>T (p.Pro28052Leu)
c.65240C>T (p.Pro21747Leu)
c.65039C>T (p.Pro21680Leu)
c.64664C>T (p.Pro21555Leu)
c.91859C>T (p.Pro30620Leu)
c.86936C>T (p.Pro28979Leu)
n.447-21437G>A
n.2043+7502G>A
c.90956C>T (p.Pro30319Leu)
c.64850C>T (p.Pro21617Leu)
c.64709C>T (p.Pro21570Leu)
c.90752C>T (p.Pro30251Leu)
c.86150C>T (p.Pro28717Leu)
c.86147C>T (p.Pro28716Leu)
c.83189C>T (p.Pro27730Leu)
c.64805C>T (p.Pro21602Leu)
c.86300C>T (p.Pro28767Leu)
c.86297C>T (p.Pro28766Leu)
c.85730C>T (p.Pro28577Leu)
c.83072C>T (p.Pro27691Leu)
c.82991C>T (p.Pro27664Leu)
c.64754C>T (p.Pro21585Leu)
c.54608C>T (p.Pro18203Leu)
2g.178549863G>CCA349496433TTN,TTN-AS1c.84155C>G (p.Pro28052Arg)
c.65240C>G (p.Pro21747Arg)
c.65039C>G (p.Pro21680Arg)
c.64664C>G (p.Pro21555Arg)
c.91859C>G (p.Pro30620Arg)
c.86936C>G (p.Pro28979Arg)
n.447-21437G>C
n.2043+7502G>C
c.90956C>G (p.Pro30319Arg)
c.64850C>G (p.Pro21617Arg)
c.64709C>G (p.Pro21570Arg)
c.90752C>G (p.Pro30251Arg)
c.86150C>G (p.Pro28717Arg)
c.86147C>G (p.Pro28716Arg)
c.83189C>G (p.Pro27730Arg)
c.64805C>G (p.Pro21602Arg)
c.86300C>G (p.Pro28767Arg)
c.86297C>G (p.Pro28766Arg)
c.85730C>G (p.Pro28577Arg)
c.83072C>G (p.Pro27691Arg)
c.82991C>G (p.Pro27664Arg)
c.64754C>G (p.Pro21585Arg)
c.54608C>G (p.Pro18203Arg)
2g.178549863G>TCA349496431TTN,TTN-AS1c.84155C>A (p.Pro28052Gln)
c.65240C>A (p.Pro21747Gln)
c.65039C>A (p.Pro21680Gln)
c.64664C>A (p.Pro21555Gln)
c.91859C>A (p.Pro30620Gln)
c.86936C>A (p.Pro28979Gln)
n.447-21437G>T
n.2043+7502G>T
c.90956C>A (p.Pro30319Gln)
c.64850C>A (p.Pro21617Gln)
c.64709C>A (p.Pro21570Gln)
c.90752C>A (p.Pro30251Gln)
c.86150C>A (p.Pro28717Gln)
c.86147C>A (p.Pro28716Gln)
c.83189C>A (p.Pro27730Gln)
c.64805C>A (p.Pro21602Gln)
c.86300C>A (p.Pro28767Gln)
c.86297C>A (p.Pro28766Gln)
c.85730C>A (p.Pro28577Gln)
c.83072C>A (p.Pro27691Gln)
c.82991C>A (p.Pro27664Gln)
c.64754C>A (p.Pro21585Gln)
c.54608C>A (p.Pro18203Gln)
2g.178549864delCA2580064702TTN,TTN-AS1c.84155del (p.Pro28052GlnfsTer4)
c.65240del (p.Pro21747GlnfsTer4)
c.65039del (p.Pro21680GlnfsTer4)
c.64664del (p.Pro21555GlnfsTer4)
c.91859del (p.Pro30620GlnfsTer4)
c.86936del (p.Pro28979GlnfsTer4)
n.447-21436del
n.2043+7503del
c.90956del (p.Pro30319GlnfsTer4)
c.64850del (p.Pro21617GlnfsTer4)
c.64709del (p.Pro21570GlnfsTer4)
c.90752del (p.Pro30251GlnfsTer4)
c.86150del (p.Pro28717GlnfsTer4)
c.86147del (p.Pro28716GlnfsTer4)
c.83189del (p.Pro27730GlnfsTer4)
c.64805del (p.Pro21602GlnfsTer4)
c.86300del (p.Pro28767GlnfsTer4)
c.86297del (p.Pro28766GlnfsTer4)
c.85730del (p.Pro28577GlnfsTer4)
c.83072del (p.Pro27691GlnfsTer4)
c.82991del (p.Pro27664GlnfsTer4)
c.64754del (p.Pro21585GlnfsTer4)
c.54608del (p.Pro18203GlnfsTer4)
 ClinVar
2g.178549864G>ACA349496434TTN,TTN-AS1c.84154C>T (p.Pro28052Ser)
c.65239C>T (p.Pro21747Ser)
c.65038C>T (p.Pro21680Ser)
c.64663C>T (p.Pro21555Ser)
c.91858C>T (p.Pro30620Ser)
c.86935C>T (p.Pro28979Ser)
n.447-21436G>A
n.2043+7503G>A
c.90955C>T (p.Pro30319Ser)
c.64849C>T (p.Pro21617Ser)
c.64708C>T (p.Pro21570Ser)
c.90751C>T (p.Pro30251Ser)
c.86149C>T (p.Pro28717Ser)
c.86146C>T (p.Pro28716Ser)
c.83188C>T (p.Pro27730Ser)
c.64804C>T (p.Pro21602Ser)
c.86299C>T (p.Pro28767Ser)
c.86296C>T (p.Pro28766Ser)
c.85729C>T (p.Pro28577Ser)
c.83071C>T (p.Pro27691Ser)
c.82990C>T (p.Pro27664Ser)
c.64753C>T (p.Pro21585Ser)
c.54607C>T (p.Pro18203Ser)
 gnomAD v4
2g.178549864G>CCA349496435TTN,TTN-AS1c.84154C>G (p.Pro28052Ala)
c.65239C>G (p.Pro21747Ala)
c.65038C>G (p.Pro21680Ala)
c.64663C>G (p.Pro21555Ala)
c.91858C>G (p.Pro30620Ala)
c.86935C>G (p.Pro28979Ala)
n.447-21436G>C
n.2043+7503G>C
c.90955C>G (p.Pro30319Ala)
c.64849C>G (p.Pro21617Ala)
c.64708C>G (p.Pro21570Ala)
c.90751C>G (p.Pro30251Ala)
c.86149C>G (p.Pro28717Ala)
c.86146C>G (p.Pro28716Ala)
c.83188C>G (p.Pro27730Ala)
c.64804C>G (p.Pro21602Ala)
c.86299C>G (p.Pro28767Ala)
c.86296C>G (p.Pro28766Ala)
c.85729C>G (p.Pro28577Ala)
c.83071C>G (p.Pro27691Ala)
c.82990C>G (p.Pro27664Ala)
c.64753C>G (p.Pro21585Ala)
c.54607C>G (p.Pro18203Ala)
 gnomAD v4
2g.178549864G>TCA349496437TTN,TTN-AS1c.84154C>A (p.Pro28052Thr)
c.65239C>A (p.Pro21747Thr)
c.65038C>A (p.Pro21680Thr)
c.64663C>A (p.Pro21555Thr)
c.91858C>A (p.Pro30620Thr)
c.86935C>A (p.Pro28979Thr)
n.447-21436G>T
n.2043+7503G>T
c.90955C>A (p.Pro30319Thr)
c.64849C>A (p.Pro21617Thr)
c.64708C>A (p.Pro21570Thr)
c.90751C>A (p.Pro30251Thr)
c.86149C>A (p.Pro28717Thr)
c.86146C>A (p.Pro28716Thr)
c.83188C>A (p.Pro27730Thr)
c.64804C>A (p.Pro21602Thr)
c.86299C>A (p.Pro28767Thr)
c.86296C>A (p.Pro28766Thr)
c.85729C>A (p.Pro28577Thr)
c.83071C>A (p.Pro27691Thr)
c.82990C>A (p.Pro27664Thr)
c.64753C>A (p.Pro21585Thr)
c.54607C>A (p.Pro18203Thr)

Number of alleles fetched