Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530450T>ACA349406831TTN,TTN-AS1c.98461A>T (p.Ile32821Leu)
c.79546A>T (p.Ile26516Leu)
c.79345A>T (p.Ile26449Leu)
c.78970A>T (p.Ile26324Leu)
c.106165A>T (p.Ile35389Leu)
c.101242A>T (p.Ile33748Leu)
n.446+6814T>A
n.220-5282T>A
c.105262A>T (p.Ile35088Leu)
c.79156A>T (p.Ile26386Leu)
c.79015A>T (p.Ile26339Leu)
c.105058A>T (p.Ile35020Leu)
c.100456A>T (p.Ile33486Leu)
c.100453A>T (p.Ile33485Leu)
c.97495A>T (p.Ile32499Leu)
c.79111A>T (p.Ile26371Leu)
c.100606A>T (p.Ile33536Leu)
c.100603A>T (p.Ile33535Leu)
c.100036A>T (p.Ile33346Leu)
c.97378A>T (p.Ile32460Leu)
c.97297A>T (p.Ile32433Leu)
c.79060A>T (p.Ile26354Leu)
c.68914A>T (p.Ile22972Leu)
2g.178530450T>CCA349406833TTN,TTN-AS1c.98461A>G (p.Ile32821Val)
c.79546A>G (p.Ile26516Val)
c.79345A>G (p.Ile26449Val)
c.78970A>G (p.Ile26324Val)
c.106165A>G (p.Ile35389Val)
c.101242A>G (p.Ile33748Val)
n.446+6814T>C
n.220-5282T>C
c.105262A>G (p.Ile35088Val)
c.79156A>G (p.Ile26386Val)
c.79015A>G (p.Ile26339Val)
c.105058A>G (p.Ile35020Val)
c.100456A>G (p.Ile33486Val)
c.100453A>G (p.Ile33485Val)
c.97495A>G (p.Ile32499Val)
c.79111A>G (p.Ile26371Val)
c.100606A>G (p.Ile33536Val)
c.100603A>G (p.Ile33535Val)
c.100036A>G (p.Ile33346Val)
c.97378A>G (p.Ile32460Val)
c.97297A>G (p.Ile32433Val)
c.79060A>G (p.Ile26354Val)
c.68914A>G (p.Ile22972Val)
 gnomAD v4
2g.178530450T>GCA349406835TTN,TTN-AS1c.98461A>C (p.Ile32821Leu)
c.79546A>C (p.Ile26516Leu)
c.79345A>C (p.Ile26449Leu)
c.78970A>C (p.Ile26324Leu)
c.106165A>C (p.Ile35389Leu)
c.101242A>C (p.Ile33748Leu)
n.446+6814T>G
n.220-5282T>G
c.105262A>C (p.Ile35088Leu)
c.79156A>C (p.Ile26386Leu)
c.79015A>C (p.Ile26339Leu)
c.105058A>C (p.Ile35020Leu)
c.100456A>C (p.Ile33486Leu)
c.100453A>C (p.Ile33485Leu)
c.97495A>C (p.Ile32499Leu)
c.79111A>C (p.Ile26371Leu)
c.100606A>C (p.Ile33536Leu)
c.100603A>C (p.Ile33535Leu)
c.100036A>C (p.Ile33346Leu)
c.97378A>C (p.Ile32460Leu)
c.97297A>C (p.Ile32433Leu)
c.79060A>C (p.Ile26354Leu)
c.68914A>C (p.Ile22972Leu)
2g.178530451T>ACA349406836TTN,TTN-AS1c.98460A>T (p.Lys32820Asn)
c.79545A>T (p.Lys26515Asn)
c.79344A>T (p.Lys26448Asn)
c.78969A>T (p.Lys26323Asn)
c.106164A>T (p.Lys35388Asn)
c.101241A>T (p.Lys33747Asn)
n.446+6815T>A
n.220-5281T>A
c.105261A>T (p.Lys35087Asn)
c.79155A>T (p.Lys26385Asn)
c.79014A>T (p.Lys26338Asn)
c.105057A>T (p.Lys35019Asn)
c.100455A>T (p.Lys33485Asn)
c.100452A>T (p.Lys33484Asn)
c.97494A>T (p.Lys32498Asn)
c.79110A>T (p.Lys26370Asn)
c.100605A>T (p.Lys33535Asn)
c.100602A>T (p.Lys33534Asn)
c.100035A>T (p.Lys33345Asn)
c.97377A>T (p.Lys32459Asn)
c.97296A>T (p.Lys32432Asn)
c.79059A>T (p.Lys26353Asn)
c.68913A>T (p.Lys22971Asn)
2g.178530451T>CCA430235007TTN,TTN-AS1c.98460A>G (p.Lys32820=)
c.79545A>G (p.Lys26515=)
c.79344A>G (p.Lys26448=)
c.78969A>G (p.Lys26323=)
c.106164A>G (p.Lys35388=)
c.101241A>G (p.Lys33747=)
n.446+6815T>C
n.220-5281T>C
c.105261A>G (p.Lys35087=)
c.79155A>G (p.Lys26385=)
c.79014A>G (p.Lys26338=)
c.105057A>G (p.Lys35019=)
c.100455A>G (p.Lys33485=)
c.100452A>G (p.Lys33484=)
c.97494A>G (p.Lys32498=)
c.79110A>G (p.Lys26370=)
c.100605A>G (p.Lys33535=)
c.100602A>G (p.Lys33534=)
c.100035A>G (p.Lys33345=)
c.97377A>G (p.Lys32459=)
c.97296A>G (p.Lys32432=)
c.79059A>G (p.Lys26353=)
c.68913A>G (p.Lys22971=)
2g.178530451T>GCA349406838TTN,TTN-AS1c.98460A>C (p.Lys32820Asn)
c.79545A>C (p.Lys26515Asn)
c.79344A>C (p.Lys26448Asn)
c.78969A>C (p.Lys26323Asn)
c.106164A>C (p.Lys35388Asn)
c.101241A>C (p.Lys33747Asn)
n.446+6815T>G
n.220-5281T>G
c.105261A>C (p.Lys35087Asn)
c.79155A>C (p.Lys26385Asn)
c.79014A>C (p.Lys26338Asn)
c.105057A>C (p.Lys35019Asn)
c.100455A>C (p.Lys33485Asn)
c.100452A>C (p.Lys33484Asn)
c.97494A>C (p.Lys32498Asn)
c.79110A>C (p.Lys26370Asn)
c.100605A>C (p.Lys33535Asn)
c.100602A>C (p.Lys33534Asn)
c.100035A>C (p.Lys33345Asn)
c.97377A>C (p.Lys32459Asn)
c.97296A>C (p.Lys32432Asn)
c.79059A>C (p.Lys26353Asn)
c.68913A>C (p.Lys22971Asn)
2g.178530452T>ACA349406841TTN,TTN-AS1c.98459A>T (p.Lys32820Ile)
c.79544A>T (p.Lys26515Ile)
c.79343A>T (p.Lys26448Ile)
c.78968A>T (p.Lys26323Ile)
c.106163A>T (p.Lys35388Ile)
c.101240A>T (p.Lys33747Ile)
n.446+6816T>A
n.220-5280T>A
c.105260A>T (p.Lys35087Ile)
c.79154A>T (p.Lys26385Ile)
c.79013A>T (p.Lys26338Ile)
c.105056A>T (p.Lys35019Ile)
c.100454A>T (p.Lys33485Ile)
c.100451A>T (p.Lys33484Ile)
c.97493A>T (p.Lys32498Ile)
c.79109A>T (p.Lys26370Ile)
c.100604A>T (p.Lys33535Ile)
c.100601A>T (p.Lys33534Ile)
c.100034A>T (p.Lys33345Ile)
c.97376A>T (p.Lys32459Ile)
c.97295A>T (p.Lys32432Ile)
c.79058A>T (p.Lys26353Ile)
c.68912A>T (p.Lys22971Ile)
2g.178530452T>CCA349406843TTN,TTN-AS1c.98459A>G (p.Lys32820Arg)
c.79544A>G (p.Lys26515Arg)
c.79343A>G (p.Lys26448Arg)
c.78968A>G (p.Lys26323Arg)
c.106163A>G (p.Lys35388Arg)
c.101240A>G (p.Lys33747Arg)
n.446+6816T>C
n.220-5280T>C
c.105260A>G (p.Lys35087Arg)
c.79154A>G (p.Lys26385Arg)
c.79013A>G (p.Lys26338Arg)
c.105056A>G (p.Lys35019Arg)
c.100454A>G (p.Lys33485Arg)
c.100451A>G (p.Lys33484Arg)
c.97493A>G (p.Lys32498Arg)
c.79109A>G (p.Lys26370Arg)
c.100604A>G (p.Lys33535Arg)
c.100601A>G (p.Lys33534Arg)
c.100034A>G (p.Lys33345Arg)
c.97376A>G (p.Lys32459Arg)
c.97295A>G (p.Lys32432Arg)
c.79058A>G (p.Lys26353Arg)
c.68912A>G (p.Lys22971Arg)
2g.178530452T>GCA349406845TTN,TTN-AS1c.98459A>C (p.Lys32820Thr)
c.79544A>C (p.Lys26515Thr)
c.79343A>C (p.Lys26448Thr)
c.78968A>C (p.Lys26323Thr)
c.106163A>C (p.Lys35388Thr)
c.101240A>C (p.Lys33747Thr)
n.446+6816T>G
n.220-5280T>G
c.105260A>C (p.Lys35087Thr)
c.79154A>C (p.Lys26385Thr)
c.79013A>C (p.Lys26338Thr)
c.105056A>C (p.Lys35019Thr)
c.100454A>C (p.Lys33485Thr)
c.100451A>C (p.Lys33484Thr)
c.97493A>C (p.Lys32498Thr)
c.79109A>C (p.Lys26370Thr)
c.100604A>C (p.Lys33535Thr)
c.100601A>C (p.Lys33534Thr)
c.100034A>C (p.Lys33345Thr)
c.97376A>C (p.Lys32459Thr)
c.97295A>C (p.Lys32432Thr)
c.79058A>C (p.Lys26353Thr)
c.68912A>C (p.Lys22971Thr)
2g.178530453T>ACA349406848TTN,TTN-AS1c.98458A>T (p.Lys32820Ter)
c.79543A>T (p.Lys26515Ter)
c.79342A>T (p.Lys26448Ter)
c.78967A>T (p.Lys26323Ter)
c.106162A>T (p.Lys35388Ter)
c.101239A>T (p.Lys33747Ter)
n.446+6817T>A
n.220-5279T>A
c.105259A>T (p.Lys35087Ter)
c.79153A>T (p.Lys26385Ter)
c.79012A>T (p.Lys26338Ter)
c.105055A>T (p.Lys35019Ter)
c.100453A>T (p.Lys33485Ter)
c.100450A>T (p.Lys33484Ter)
c.97492A>T (p.Lys32498Ter)
c.79108A>T (p.Lys26370Ter)
c.100603A>T (p.Lys33535Ter)
c.100600A>T (p.Lys33534Ter)
c.100033A>T (p.Lys33345Ter)
c.97375A>T (p.Lys32459Ter)
c.97294A>T (p.Lys32432Ter)
c.79057A>T (p.Lys26353Ter)
c.68911A>T (p.Lys22971Ter)
2g.178530453T>CCA349406850TTN,TTN-AS1c.98458A>G (p.Lys32820Glu)
c.79543A>G (p.Lys26515Glu)
c.79342A>G (p.Lys26448Glu)
c.78967A>G (p.Lys26323Glu)
c.106162A>G (p.Lys35388Glu)
c.101239A>G (p.Lys33747Glu)
n.446+6817T>C
n.220-5279T>C
c.105259A>G (p.Lys35087Glu)
c.79153A>G (p.Lys26385Glu)
c.79012A>G (p.Lys26338Glu)
c.105055A>G (p.Lys35019Glu)
c.100453A>G (p.Lys33485Glu)
c.100450A>G (p.Lys33484Glu)
c.97492A>G (p.Lys32498Glu)
c.79108A>G (p.Lys26370Glu)
c.100603A>G (p.Lys33535Glu)
c.100600A>G (p.Lys33534Glu)
c.100033A>G (p.Lys33345Glu)
c.97375A>G (p.Lys32459Glu)
c.97294A>G (p.Lys32432Glu)
c.79057A>G (p.Lys26353Glu)
c.68911A>G (p.Lys22971Glu)
 gnomAD v4
2g.178530453T>GCA349406852TTN,TTN-AS1c.98458A>C (p.Lys32820Gln)
c.79543A>C (p.Lys26515Gln)
c.79342A>C (p.Lys26448Gln)
c.78967A>C (p.Lys26323Gln)
c.106162A>C (p.Lys35388Gln)
c.101239A>C (p.Lys33747Gln)
n.446+6817T>G
n.220-5279T>G
c.105259A>C (p.Lys35087Gln)
c.79153A>C (p.Lys26385Gln)
c.79012A>C (p.Lys26338Gln)
c.105055A>C (p.Lys35019Gln)
c.100453A>C (p.Lys33485Gln)
c.100450A>C (p.Lys33484Gln)
c.97492A>C (p.Lys32498Gln)
c.79108A>C (p.Lys26370Gln)
c.100603A>C (p.Lys33535Gln)
c.100600A>C (p.Lys33534Gln)
c.100033A>C (p.Lys33345Gln)
c.97375A>C (p.Lys32459Gln)
c.97294A>C (p.Lys32432Gln)
c.79057A>C (p.Lys26353Gln)
c.68911A>C (p.Lys22971Gln)
2g.178530454T>ACA430235011TTN,TTN-AS1c.98457A>T (p.Ser32819=)
c.79542A>T (p.Ser26514=)
c.79341A>T (p.Ser26447=)
c.78966A>T (p.Ser26322=)
c.106161A>T (p.Ser35387=)
c.101238A>T (p.Ser33746=)
n.446+6818T>A
n.220-5278T>A
c.105258A>T (p.Ser35086=)
c.79152A>T (p.Ser26384=)
c.79011A>T (p.Ser26337=)
c.105054A>T (p.Ser35018=)
c.100452A>T (p.Ser33484=)
c.100449A>T (p.Ser33483=)
c.97491A>T (p.Ser32497=)
c.79107A>T (p.Ser26369=)
c.100602A>T (p.Ser33534=)
c.100599A>T (p.Ser33533=)
c.100032A>T (p.Ser33344=)
c.97374A>T (p.Ser32458=)
c.97293A>T (p.Ser32431=)
c.79056A>T (p.Ser26352=)
c.68910A>T (p.Ser22970=)
2g.178530454T>CCA430235012TTN,TTN-AS1c.98457A>G (p.Ser32819=)
c.79542A>G (p.Ser26514=)
c.79341A>G (p.Ser26447=)
c.78966A>G (p.Ser26322=)
c.106161A>G (p.Ser35387=)
c.101238A>G (p.Ser33746=)
n.446+6818T>C
n.220-5278T>C
c.105258A>G (p.Ser35086=)
c.79152A>G (p.Ser26384=)
c.79011A>G (p.Ser26337=)
c.105054A>G (p.Ser35018=)
c.100452A>G (p.Ser33484=)
c.100449A>G (p.Ser33483=)
c.97491A>G (p.Ser32497=)
c.79107A>G (p.Ser26369=)
c.100602A>G (p.Ser33534=)
c.100599A>G (p.Ser33533=)
c.100032A>G (p.Ser33344=)
c.97374A>G (p.Ser32458=)
c.97293A>G (p.Ser32431=)
c.79056A>G (p.Ser26352=)
c.68910A>G (p.Ser22970=)
2g.178530454T>GCA430235013TTN,TTN-AS1c.98457A>C (p.Ser32819=)
c.79542A>C (p.Ser26514=)
c.79341A>C (p.Ser26447=)
c.78966A>C (p.Ser26322=)
c.106161A>C (p.Ser35387=)
c.101238A>C (p.Ser33746=)
n.446+6818T>G
n.220-5278T>G
c.105258A>C (p.Ser35086=)
c.79152A>C (p.Ser26384=)
c.79011A>C (p.Ser26337=)
c.105054A>C (p.Ser35018=)
c.100452A>C (p.Ser33484=)
c.100449A>C (p.Ser33483=)
c.97491A>C (p.Ser32497=)
c.79107A>C (p.Ser26369=)
c.100602A>C (p.Ser33534=)
c.100599A>C (p.Ser33533=)
c.100032A>C (p.Ser33344=)
c.97374A>C (p.Ser32458=)
c.97293A>C (p.Ser32431=)
c.79056A>C (p.Ser26352=)
c.68910A>C (p.Ser22970=)
2g.178530455G>ACA349406854TTN,TTN-AS1c.98456C>T (p.Ser32819Leu)
c.79541C>T (p.Ser26514Leu)
c.79340C>T (p.Ser26447Leu)
c.78965C>T (p.Ser26322Leu)
c.106160C>T (p.Ser35387Leu)
c.101237C>T (p.Ser33746Leu)
n.446+6819G>A
n.220-5277G>A
c.105257C>T (p.Ser35086Leu)
c.79151C>T (p.Ser26384Leu)
c.79010C>T (p.Ser26337Leu)
c.105053C>T (p.Ser35018Leu)
c.100451C>T (p.Ser33484Leu)
c.100448C>T (p.Ser33483Leu)
c.97490C>T (p.Ser32497Leu)
c.79106C>T (p.Ser26369Leu)
c.100601C>T (p.Ser33534Leu)
c.100598C>T (p.Ser33533Leu)
c.100031C>T (p.Ser33344Leu)
c.97373C>T (p.Ser32458Leu)
c.97292C>T (p.Ser32431Leu)
c.79055C>T (p.Ser26352Leu)
c.68909C>T (p.Ser22970Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178530455G>CCA349406856TTN,TTN-AS1c.98456C>G (p.Ser32819Ter)
c.79541C>G (p.Ser26514Ter)
c.79340C>G (p.Ser26447Ter)
c.78965C>G (p.Ser26322Ter)
c.106160C>G (p.Ser35387Ter)
c.101237C>G (p.Ser33746Ter)
n.446+6819G>C
n.220-5277G>C
c.105257C>G (p.Ser35086Ter)
c.79151C>G (p.Ser26384Ter)
c.79010C>G (p.Ser26337Ter)
c.105053C>G (p.Ser35018Ter)
c.100451C>G (p.Ser33484Ter)
c.100448C>G (p.Ser33483Ter)
c.97490C>G (p.Ser32497Ter)
c.79106C>G (p.Ser26369Ter)
c.100601C>G (p.Ser33534Ter)
c.100598C>G (p.Ser33533Ter)
c.100031C>G (p.Ser33344Ter)
c.97373C>G (p.Ser32458Ter)
c.97292C>G (p.Ser32431Ter)
c.79055C>G (p.Ser26352Ter)
c.68909C>G (p.Ser22970Ter)
 ClinVar dbSNP
2g.178530455G>TCA349406858TTN,TTN-AS1c.98456C>A (p.Ser32819Ter)
c.79541C>A (p.Ser26514Ter)
c.79340C>A (p.Ser26447Ter)
c.78965C>A (p.Ser26322Ter)
c.106160C>A (p.Ser35387Ter)
c.101237C>A (p.Ser33746Ter)
n.446+6819G>T
n.220-5277G>T
c.105257C>A (p.Ser35086Ter)
c.79151C>A (p.Ser26384Ter)
c.79010C>A (p.Ser26337Ter)
c.105053C>A (p.Ser35018Ter)
c.100451C>A (p.Ser33484Ter)
c.100448C>A (p.Ser33483Ter)
c.97490C>A (p.Ser32497Ter)
c.79106C>A (p.Ser26369Ter)
c.100601C>A (p.Ser33534Ter)
c.100598C>A (p.Ser33533Ter)
c.100031C>A (p.Ser33344Ter)
c.97373C>A (p.Ser32458Ter)
c.97292C>A (p.Ser32431Ter)
c.79055C>A (p.Ser26352Ter)
c.68909C>A (p.Ser22970Ter)
2g.178530456A=CA1310514639TTN,TTN-AS1c.98455T= (p.Ser32819=)
c.79540T= (p.Ser26514=)
c.79339T= (p.Ser26447=)
c.78964T= (p.Ser26322=)
c.106159T= (p.Ser35387=)
c.101236T= (p.Ser33746=)
n.446+6820A=
n.220-5276A=
c.105256T= (p.Ser35086=)
c.79150T= (p.Ser26384=)
c.79009T= (p.Ser26337=)
c.105052T= (p.Ser35018=)
c.100450T= (p.Ser33484=)
c.100447T= (p.Ser33483=)
c.97489T= (p.Ser32497=)
c.79105T= (p.Ser26369=)
c.100600T= (p.Ser33534=)
c.100597T= (p.Ser33533=)
c.100030T= (p.Ser33344=)
c.97372T= (p.Ser32458=)
c.97291T= (p.Ser32431=)
c.79054T= (p.Ser26352=)
c.68908T= (p.Ser22970=)
2g.178530456A>CCA349406865TTN,TTN-AS1c.98455T>G (p.Ser32819Ala)
c.79540T>G (p.Ser26514Ala)
c.79339T>G (p.Ser26447Ala)
c.78964T>G (p.Ser26322Ala)
c.106159T>G (p.Ser35387Ala)
c.101236T>G (p.Ser33746Ala)
n.446+6820A>C
n.220-5276A>C
c.105256T>G (p.Ser35086Ala)
c.79150T>G (p.Ser26384Ala)
c.79009T>G (p.Ser26337Ala)
c.105052T>G (p.Ser35018Ala)
c.100450T>G (p.Ser33484Ala)
c.100447T>G (p.Ser33483Ala)
c.97489T>G (p.Ser32497Ala)
c.79105T>G (p.Ser26369Ala)
c.100600T>G (p.Ser33534Ala)
c.100597T>G (p.Ser33533Ala)
c.100030T>G (p.Ser33344Ala)
c.97372T>G (p.Ser32458Ala)
c.97291T>G (p.Ser32431Ala)
c.79054T>G (p.Ser26352Ala)
c.68908T>G (p.Ser22970Ala)
2g.178530456A>GCA349406863TTN,TTN-AS1c.98455T>C (p.Ser32819Pro)
c.79540T>C (p.Ser26514Pro)
c.79339T>C (p.Ser26447Pro)
c.78964T>C (p.Ser26322Pro)
c.106159T>C (p.Ser35387Pro)
c.101236T>C (p.Ser33746Pro)
n.446+6820A>G
n.220-5276A>G
c.105256T>C (p.Ser35086Pro)
c.79150T>C (p.Ser26384Pro)
c.79009T>C (p.Ser26337Pro)
c.105052T>C (p.Ser35018Pro)
c.100450T>C (p.Ser33484Pro)
c.100447T>C (p.Ser33483Pro)
c.97489T>C (p.Ser32497Pro)
c.79105T>C (p.Ser26369Pro)
c.100600T>C (p.Ser33534Pro)
c.100597T>C (p.Ser33533Pro)
c.100030T>C (p.Ser33344Pro)
c.97372T>C (p.Ser32458Pro)
c.97291T>C (p.Ser32431Pro)
c.79054T>C (p.Ser26352Pro)
c.68908T>C (p.Ser22970Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178530456A>TCA349406861TTN,TTN-AS1c.98455T>A (p.Ser32819Thr)
c.79540T>A (p.Ser26514Thr)
c.79339T>A (p.Ser26447Thr)
c.78964T>A (p.Ser26322Thr)
c.106159T>A (p.Ser35387Thr)
c.101236T>A (p.Ser33746Thr)
n.446+6820A>T
n.220-5276A>T
c.105256T>A (p.Ser35086Thr)
c.79150T>A (p.Ser26384Thr)
c.79009T>A (p.Ser26337Thr)
c.105052T>A (p.Ser35018Thr)
c.100450T>A (p.Ser33484Thr)
c.100447T>A (p.Ser33483Thr)
c.97489T>A (p.Ser32497Thr)
c.79105T>A (p.Ser26369Thr)
c.100600T>A (p.Ser33534Thr)
c.100597T>A (p.Ser33533Thr)
c.100030T>A (p.Ser33344Thr)
c.97372T>A (p.Ser32458Thr)
c.97291T>A (p.Ser32431Thr)
c.79054T>A (p.Ser26352Thr)
c.68908T>A (p.Ser22970Thr)
2g.178530457T>ACA430235018TTN,TTN-AS1c.98454A>T (p.Val32818=)
c.79539A>T (p.Val26513=)
c.79338A>T (p.Val26446=)
c.78963A>T (p.Val26321=)
c.106158A>T (p.Val35386=)
c.101235A>T (p.Val33745=)
n.446+6821T>A
n.220-5275T>A
c.105255A>T (p.Val35085=)
c.79149A>T (p.Val26383=)
c.79008A>T (p.Val26336=)
c.105051A>T (p.Val35017=)
c.100449A>T (p.Val33483=)
c.100446A>T (p.Val33482=)
c.97488A>T (p.Val32496=)
c.79104A>T (p.Val26368=)
c.100599A>T (p.Val33533=)
c.100596A>T (p.Val33532=)
c.100029A>T (p.Val33343=)
c.97371A>T (p.Val32457=)
c.97290A>T (p.Val32430=)
c.79053A>T (p.Val26351=)
c.68907A>T (p.Val22969=)
2g.178530457T>CCA430235019TTN,TTN-AS1c.98454A>G (p.Val32818=)
c.79539A>G (p.Val26513=)
c.79338A>G (p.Val26446=)
c.78963A>G (p.Val26321=)
c.106158A>G (p.Val35386=)
c.101235A>G (p.Val33745=)
n.446+6821T>C
n.220-5275T>C
c.105255A>G (p.Val35085=)
c.79149A>G (p.Val26383=)
c.79008A>G (p.Val26336=)
c.105051A>G (p.Val35017=)
c.100449A>G (p.Val33483=)
c.100446A>G (p.Val33482=)
c.97488A>G (p.Val32496=)
c.79104A>G (p.Val26368=)
c.100599A>G (p.Val33533=)
c.100596A>G (p.Val33532=)
c.100029A>G (p.Val33343=)
c.97371A>G (p.Val32457=)
c.97290A>G (p.Val32430=)
c.79053A>G (p.Val26351=)
c.68907A>G (p.Val22969=)
2g.178530457T>GCA430235020TTN,TTN-AS1c.98454A>C (p.Val32818=)
c.79539A>C (p.Val26513=)
c.79338A>C (p.Val26446=)
c.78963A>C (p.Val26321=)
c.106158A>C (p.Val35386=)
c.101235A>C (p.Val33745=)
n.446+6821T>G
n.220-5275T>G
c.105255A>C (p.Val35085=)
c.79149A>C (p.Val26383=)
c.79008A>C (p.Val26336=)
c.105051A>C (p.Val35017=)
c.100449A>C (p.Val33483=)
c.100446A>C (p.Val33482=)
c.97488A>C (p.Val32496=)
c.79104A>C (p.Val26368=)
c.100599A>C (p.Val33533=)
c.100596A>C (p.Val33532=)
c.100029A>C (p.Val33343=)
c.97371A>C (p.Val32457=)
c.97290A>C (p.Val32430=)
c.79053A>C (p.Val26351=)
c.68907A>C (p.Val22969=)
2g.178530458A>CCA349406867TTN,TTN-AS1c.98453T>G (p.Val32818Gly)
c.79538T>G (p.Val26513Gly)
c.79337T>G (p.Val26446Gly)
c.78962T>G (p.Val26321Gly)
c.106157T>G (p.Val35386Gly)
c.101234T>G (p.Val33745Gly)
n.446+6822A>C
n.220-5274A>C
c.105254T>G (p.Val35085Gly)
c.79148T>G (p.Val26383Gly)
c.79007T>G (p.Val26336Gly)
c.105050T>G (p.Val35017Gly)
c.100448T>G (p.Val33483Gly)
c.100445T>G (p.Val33482Gly)
c.97487T>G (p.Val32496Gly)
c.79103T>G (p.Val26368Gly)
c.100598T>G (p.Val33533Gly)
c.100595T>G (p.Val33532Gly)
c.100028T>G (p.Val33343Gly)
c.97370T>G (p.Val32457Gly)
c.97289T>G (p.Val32430Gly)
c.79052T>G (p.Val26351Gly)
c.68906T>G (p.Val22969Gly)
2g.178530458A>GCA349406868TTN,TTN-AS1c.98453T>C (p.Val32818Ala)
c.79538T>C (p.Val26513Ala)
c.79337T>C (p.Val26446Ala)
c.78962T>C (p.Val26321Ala)
c.106157T>C (p.Val35386Ala)
c.101234T>C (p.Val33745Ala)
n.446+6822A>G
n.220-5274A>G
c.105254T>C (p.Val35085Ala)
c.79148T>C (p.Val26383Ala)
c.79007T>C (p.Val26336Ala)
c.105050T>C (p.Val35017Ala)
c.100448T>C (p.Val33483Ala)
c.100445T>C (p.Val33482Ala)
c.97487T>C (p.Val32496Ala)
c.79103T>C (p.Val26368Ala)
c.100598T>C (p.Val33533Ala)
c.100595T>C (p.Val33532Ala)
c.100028T>C (p.Val33343Ala)
c.97370T>C (p.Val32457Ala)
c.97289T>C (p.Val32430Ala)
c.79052T>C (p.Val26351Ala)
c.68906T>C (p.Val22969Ala)
2g.178530458A>TCA349406870TTN,TTN-AS1c.98453T>A (p.Val32818Glu)
c.79538T>A (p.Val26513Glu)
c.79337T>A (p.Val26446Glu)
c.78962T>A (p.Val26321Glu)
c.106157T>A (p.Val35386Glu)
c.101234T>A (p.Val33745Glu)
n.446+6822A>T
n.220-5274A>T
c.105254T>A (p.Val35085Glu)
c.79148T>A (p.Val26383Glu)
c.79007T>A (p.Val26336Glu)
c.105050T>A (p.Val35017Glu)
c.100448T>A (p.Val33483Glu)
c.100445T>A (p.Val33482Glu)
c.97487T>A (p.Val32496Glu)
c.79103T>A (p.Val26368Glu)
c.100598T>A (p.Val33533Glu)
c.100595T>A (p.Val33532Glu)
c.100028T>A (p.Val33343Glu)
c.97370T>A (p.Val32457Glu)
c.97289T>A (p.Val32430Glu)
c.79052T>A (p.Val26351Glu)
c.68906T>A (p.Val22969Glu)
2g.178530458dupCA2695196988TTN,TTN-AS1c.98453dup (p.Ser32819IlefsTer7)
c.79538dup (p.Ser26514IlefsTer7)
c.79337dup (p.Ser26447IlefsTer7)
c.78962dup (p.Ser26322IlefsTer7)
c.106157dup (p.Ser35387IlefsTer7)
c.101234dup (p.Ser33746IlefsTer7)
n.446+6822dup
n.220-5274dup
c.105254dup (p.Ser35086IlefsTer7)
c.79148dup (p.Ser26384IlefsTer7)
c.79007dup (p.Ser26337IlefsTer7)
c.105050dup (p.Ser35018IlefsTer7)
c.100448dup (p.Ser33484IlefsTer7)
c.100445dup (p.Ser33483IlefsTer7)
c.97487dup (p.Ser32497IlefsTer7)
c.79103dup (p.Ser26369IlefsTer7)
c.100598dup (p.Ser33534IlefsTer7)
c.100595dup (p.Ser33533IlefsTer7)
c.100028dup (p.Ser33344IlefsTer7)
c.97370dup (p.Ser32458IlefsTer7)
c.97289dup (p.Ser32431IlefsTer7)
c.79052dup (p.Ser26352IlefsTer7)
c.68906dup (p.Ser22970IlefsTer7)
 ClinVar
2g.178530459C>ACA1985154TTN,TTN-AS1c.98452G>T (p.Val32818Leu)
c.79537G>T (p.Val26513Leu)
c.79336G>T (p.Val26446Leu)
c.78961G>T (p.Val26321Leu)
c.106156G>T (p.Val35386Leu)
c.101233G>T (p.Val33745Leu)
n.446+6823C>A
n.220-5273C>A
c.105253G>T (p.Val35085Leu)
c.79147G>T (p.Val26383Leu)
c.79006G>T (p.Val26336Leu)
c.105049G>T (p.Val35017Leu)
c.100447G>T (p.Val33483Leu)
c.100444G>T (p.Val33482Leu)
c.97486G>T (p.Val32496Leu)
c.79102G>T (p.Val26368Leu)
c.100597G>T (p.Val33533Leu)
c.100594G>T (p.Val33532Leu)
c.100027G>T (p.Val33343Leu)
c.97369G>T (p.Val32457Leu)
c.97288G>T (p.Val32430Leu)
c.79051G>T (p.Val26351Leu)
c.68905G>T (p.Val22969Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530459C=CA1310514641TTN,TTN-AS1c.98452G= (p.Val32818=)
c.79537G= (p.Val26513=)
c.79336G= (p.Val26446=)
c.78961G= (p.Val26321=)
c.106156G= (p.Val35386=)
c.101233G= (p.Val33745=)
n.446+6823C=
n.220-5273C=
c.105253G= (p.Val35085=)
c.79147G= (p.Val26383=)
c.79006G= (p.Val26336=)
c.105049G= (p.Val35017=)
c.100447G= (p.Val33483=)
c.100444G= (p.Val33482=)
c.97486G= (p.Val32496=)
c.79102G= (p.Val26368=)
c.100597G= (p.Val33533=)
c.100594G= (p.Val33532=)
c.100027G= (p.Val33343=)
c.97369G= (p.Val32457=)
c.97288G= (p.Val32430=)
c.79051G= (p.Val26351=)
c.68905G= (p.Val22969=)
2g.178530459C>GCA349406875TTN,TTN-AS1c.98452G>C (p.Val32818Leu)
c.79537G>C (p.Val26513Leu)
c.79336G>C (p.Val26446Leu)
c.78961G>C (p.Val26321Leu)
c.106156G>C (p.Val35386Leu)
c.101233G>C (p.Val33745Leu)
n.446+6823C>G
n.220-5273C>G
c.105253G>C (p.Val35085Leu)
c.79147G>C (p.Val26383Leu)
c.79006G>C (p.Val26336Leu)
c.105049G>C (p.Val35017Leu)
c.100447G>C (p.Val33483Leu)
c.100444G>C (p.Val33482Leu)
c.97486G>C (p.Val32496Leu)
c.79102G>C (p.Val26368Leu)
c.100597G>C (p.Val33533Leu)
c.100594G>C (p.Val33532Leu)
c.100027G>C (p.Val33343Leu)
c.97369G>C (p.Val32457Leu)
c.97288G>C (p.Val32430Leu)
c.79051G>C (p.Val26351Leu)
c.68905G>C (p.Val22969Leu)
2g.178530459C>TCA349406877TTN,TTN-AS1c.98452G>A (p.Val32818Ile)
c.79537G>A (p.Val26513Ile)
c.79336G>A (p.Val26446Ile)
c.78961G>A (p.Val26321Ile)
c.106156G>A (p.Val35386Ile)
c.101233G>A (p.Val33745Ile)
n.446+6823C>T
n.220-5273C>T
c.105253G>A (p.Val35085Ile)
c.79147G>A (p.Val26383Ile)
c.79006G>A (p.Val26336Ile)
c.105049G>A (p.Val35017Ile)
c.100447G>A (p.Val33483Ile)
c.100444G>A (p.Val33482Ile)
c.97486G>A (p.Val32496Ile)
c.79102G>A (p.Val26368Ile)
c.100597G>A (p.Val33533Ile)
c.100594G>A (p.Val33532Ile)
c.100027G>A (p.Val33343Ile)
c.97369G>A (p.Val32457Ile)
c.97288G>A (p.Val32430Ile)
c.79051G>A (p.Val26351Ile)
c.68905G>A (p.Val22969Ile)
2g.178530460C>ACA349406881TTN,TTN-AS1c.98451G>T (p.Lys32817Asn)
c.79536G>T (p.Lys26512Asn)
c.79335G>T (p.Lys26445Asn)
c.78960G>T (p.Lys26320Asn)
c.106155G>T (p.Lys35385Asn)
c.101232G>T (p.Lys33744Asn)
n.446+6824C>A
n.220-5272C>A
c.105252G>T (p.Lys35084Asn)
c.79146G>T (p.Lys26382Asn)
c.79005G>T (p.Lys26335Asn)
c.105048G>T (p.Lys35016Asn)
c.100446G>T (p.Lys33482Asn)
c.100443G>T (p.Lys33481Asn)
c.97485G>T (p.Lys32495Asn)
c.79101G>T (p.Lys26367Asn)
c.100596G>T (p.Lys33532Asn)
c.100593G>T (p.Lys33531Asn)
c.100026G>T (p.Lys33342Asn)
c.97368G>T (p.Lys32456Asn)
c.97287G>T (p.Lys32429Asn)
c.79050G>T (p.Lys26350Asn)
c.68904G>T (p.Lys22968Asn)
2g.178530460C=CA1310514643TTN,TTN-AS1c.98451G= (p.Lys32817=)
c.79536G= (p.Lys26512=)
c.79335G= (p.Lys26445=)
c.78960G= (p.Lys26320=)
c.106155G= (p.Lys35385=)
c.101232G= (p.Lys33744=)
n.446+6824C=
n.220-5272C=
c.105252G= (p.Lys35084=)
c.79146G= (p.Lys26382=)
c.79005G= (p.Lys26335=)
c.105048G= (p.Lys35016=)
c.100446G= (p.Lys33482=)
c.100443G= (p.Lys33481=)
c.97485G= (p.Lys32495=)
c.79101G= (p.Lys26367=)
c.100596G= (p.Lys33532=)
c.100593G= (p.Lys33531=)
c.100026G= (p.Lys33342=)
c.97368G= (p.Lys32456=)
c.97287G= (p.Lys32429=)
c.79050G= (p.Lys26350=)
c.68904G= (p.Lys22968=)
2g.178530460C>GCA349406879TTN,TTN-AS1c.98451G>C (p.Lys32817Asn)
c.79536G>C (p.Lys26512Asn)
c.79335G>C (p.Lys26445Asn)
c.78960G>C (p.Lys26320Asn)
c.106155G>C (p.Lys35385Asn)
c.101232G>C (p.Lys33744Asn)
n.446+6824C>G
n.220-5272C>G
c.105252G>C (p.Lys35084Asn)
c.79146G>C (p.Lys26382Asn)
c.79005G>C (p.Lys26335Asn)
c.105048G>C (p.Lys35016Asn)
c.100446G>C (p.Lys33482Asn)
c.100443G>C (p.Lys33481Asn)
c.97485G>C (p.Lys32495Asn)
c.79101G>C (p.Lys26367Asn)
c.100596G>C (p.Lys33532Asn)
c.100593G>C (p.Lys33531Asn)
c.100026G>C (p.Lys33342Asn)
c.97368G>C (p.Lys32456Asn)
c.97287G>C (p.Lys32429Asn)
c.79050G>C (p.Lys26350Asn)
c.68904G>C (p.Lys22968Asn)
 dbSNP
2g.178530460C>TCA1985155TTN,TTN-AS1c.98451G>A (p.Lys32817=)
c.79536G>A (p.Lys26512=)
c.79335G>A (p.Lys26445=)
c.78960G>A (p.Lys26320=)
c.106155G>A (p.Lys35385=)
c.101232G>A (p.Lys33744=)
n.446+6824C>T
n.220-5272C>T
c.105252G>A (p.Lys35084=)
c.79146G>A (p.Lys26382=)
c.79005G>A (p.Lys26335=)
c.105048G>A (p.Lys35016=)
c.100446G>A (p.Lys33482=)
c.100443G>A (p.Lys33481=)
c.97485G>A (p.Lys32495=)
c.79101G>A (p.Lys26367=)
c.100596G>A (p.Lys33532=)
c.100593G>A (p.Lys33531=)
c.100026G>A (p.Lys33342=)
c.97368G>A (p.Lys32456=)
c.97287G>A (p.Lys32429=)
c.79050G>A (p.Lys26350=)
c.68904G>A (p.Lys22968=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530461T>ACA349406884TTN,TTN-AS1c.98450A>T (p.Lys32817Met)
c.79535A>T (p.Lys26512Met)
c.79334A>T (p.Lys26445Met)
c.78959A>T (p.Lys26320Met)
c.106154A>T (p.Lys35385Met)
c.101231A>T (p.Lys33744Met)
n.446+6825T>A
n.220-5271T>A
c.105251A>T (p.Lys35084Met)
c.79145A>T (p.Lys26382Met)
c.79004A>T (p.Lys26335Met)
c.105047A>T (p.Lys35016Met)
c.100445A>T (p.Lys33482Met)
c.100442A>T (p.Lys33481Met)
c.97484A>T (p.Lys32495Met)
c.79100A>T (p.Lys26367Met)
c.100595A>T (p.Lys33532Met)
c.100592A>T (p.Lys33531Met)
c.100025A>T (p.Lys33342Met)
c.97367A>T (p.Lys32456Met)
c.97286A>T (p.Lys32429Met)
c.79049A>T (p.Lys26350Met)
c.68903A>T (p.Lys22968Met)
 COSMIC COSMIC COSMIC COSMIC
2g.178530461T>CCA349406886TTN,TTN-AS1c.98450A>G (p.Lys32817Arg)
c.79535A>G (p.Lys26512Arg)
c.79334A>G (p.Lys26445Arg)
c.78959A>G (p.Lys26320Arg)
c.106154A>G (p.Lys35385Arg)
c.101231A>G (p.Lys33744Arg)
n.446+6825T>C
n.220-5271T>C
c.105251A>G (p.Lys35084Arg)
c.79145A>G (p.Lys26382Arg)
c.79004A>G (p.Lys26335Arg)
c.105047A>G (p.Lys35016Arg)
c.100445A>G (p.Lys33482Arg)
c.100442A>G (p.Lys33481Arg)
c.97484A>G (p.Lys32495Arg)
c.79100A>G (p.Lys26367Arg)
c.100595A>G (p.Lys33532Arg)
c.100592A>G (p.Lys33531Arg)
c.100025A>G (p.Lys33342Arg)
c.97367A>G (p.Lys32456Arg)
c.97286A>G (p.Lys32429Arg)
c.79049A>G (p.Lys26350Arg)
c.68903A>G (p.Lys22968Arg)
2g.178530461T>GCA1985156TTN,TTN-AS1c.98450A>C (p.Lys32817Thr)
c.79535A>C (p.Lys26512Thr)
c.79334A>C (p.Lys26445Thr)
c.78959A>C (p.Lys26320Thr)
c.106154A>C (p.Lys35385Thr)
c.101231A>C (p.Lys33744Thr)
n.446+6825T>G
n.220-5271T>G
c.105251A>C (p.Lys35084Thr)
c.79145A>C (p.Lys26382Thr)
c.79004A>C (p.Lys26335Thr)
c.105047A>C (p.Lys35016Thr)
c.100445A>C (p.Lys33482Thr)
c.100442A>C (p.Lys33481Thr)
c.97484A>C (p.Lys32495Thr)
c.79100A>C (p.Lys26367Thr)
c.100595A>C (p.Lys33532Thr)
c.100592A>C (p.Lys33531Thr)
c.100025A>C (p.Lys33342Thr)
c.97367A>C (p.Lys32456Thr)
c.97286A>C (p.Lys32429Thr)
c.79049A>C (p.Lys26350Thr)
c.68903A>C (p.Lys22968Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530461T=CA1310514644TTN,TTN-AS1c.98450A= (p.Lys32817=)
c.79535A= (p.Lys26512=)
c.79334A= (p.Lys26445=)
c.78959A= (p.Lys26320=)
c.106154A= (p.Lys35385=)
c.101231A= (p.Lys33744=)
n.446+6825T=
n.220-5271T=
c.105251A= (p.Lys35084=)
c.79145A= (p.Lys26382=)
c.79004A= (p.Lys26335=)
c.105047A= (p.Lys35016=)
c.100445A= (p.Lys33482=)
c.100442A= (p.Lys33481=)
c.97484A= (p.Lys32495=)
c.79100A= (p.Lys26367=)
c.100595A= (p.Lys33532=)
c.100592A= (p.Lys33531=)
c.100025A= (p.Lys33342=)
c.97367A= (p.Lys32456=)
c.97286A= (p.Lys32429=)
c.79049A= (p.Lys26350=)
c.68903A= (p.Lys22968=)
2g.178530462T>ACA349406889TTN,TTN-AS1c.98449A>T (p.Lys32817Ter)
c.79534A>T (p.Lys26512Ter)
c.79333A>T (p.Lys26445Ter)
c.78958A>T (p.Lys26320Ter)
c.106153A>T (p.Lys35385Ter)
c.101230A>T (p.Lys33744Ter)
n.446+6826T>A
n.220-5270T>A
c.105250A>T (p.Lys35084Ter)
c.79144A>T (p.Lys26382Ter)
c.79003A>T (p.Lys26335Ter)
c.105046A>T (p.Lys35016Ter)
c.100444A>T (p.Lys33482Ter)
c.100441A>T (p.Lys33481Ter)
c.97483A>T (p.Lys32495Ter)
c.79099A>T (p.Lys26367Ter)
c.100594A>T (p.Lys33532Ter)
c.100591A>T (p.Lys33531Ter)
c.100024A>T (p.Lys33342Ter)
c.97366A>T (p.Lys32456Ter)
c.97285A>T (p.Lys32429Ter)
c.79048A>T (p.Lys26350Ter)
c.68902A>T (p.Lys22968Ter)
2g.178530462T>CCA349406891TTN,TTN-AS1c.98449A>G (p.Lys32817Glu)
c.79534A>G (p.Lys26512Glu)
c.79333A>G (p.Lys26445Glu)
c.78958A>G (p.Lys26320Glu)
c.106153A>G (p.Lys35385Glu)
c.101230A>G (p.Lys33744Glu)
n.446+6826T>C
n.220-5270T>C
c.105250A>G (p.Lys35084Glu)
c.79144A>G (p.Lys26382Glu)
c.79003A>G (p.Lys26335Glu)
c.105046A>G (p.Lys35016Glu)
c.100444A>G (p.Lys33482Glu)
c.100441A>G (p.Lys33481Glu)
c.97483A>G (p.Lys32495Glu)
c.79099A>G (p.Lys26367Glu)
c.100594A>G (p.Lys33532Glu)
c.100591A>G (p.Lys33531Glu)
c.100024A>G (p.Lys33342Glu)
c.97366A>G (p.Lys32456Glu)
c.97285A>G (p.Lys32429Glu)
c.79048A>G (p.Lys26350Glu)
c.68902A>G (p.Lys22968Glu)
2g.178530462T>GCA349406893TTN,TTN-AS1c.98449A>C (p.Lys32817Gln)
c.79534A>C (p.Lys26512Gln)
c.79333A>C (p.Lys26445Gln)
c.78958A>C (p.Lys26320Gln)
c.106153A>C (p.Lys35385Gln)
c.101230A>C (p.Lys33744Gln)
n.446+6826T>G
n.220-5270T>G
c.105250A>C (p.Lys35084Gln)
c.79144A>C (p.Lys26382Gln)
c.79003A>C (p.Lys26335Gln)
c.105046A>C (p.Lys35016Gln)
c.100444A>C (p.Lys33482Gln)
c.100441A>C (p.Lys33481Gln)
c.97483A>C (p.Lys32495Gln)
c.79099A>C (p.Lys26367Gln)
c.100594A>C (p.Lys33532Gln)
c.100591A>C (p.Lys33531Gln)
c.100024A>C (p.Lys33342Gln)
c.97366A>C (p.Lys32456Gln)
c.97285A>C (p.Lys32429Gln)
c.79048A>C (p.Lys26350Gln)
c.68902A>C (p.Lys22968Gln)
2g.178530463C>ACA349406896TTN,TTN-AS1c.98448G>T (p.Glu32816Asp)
c.79533G>T (p.Glu26511Asp)
c.79332G>T (p.Glu26444Asp)
c.78957G>T (p.Glu26319Asp)
c.106152G>T (p.Glu35384Asp)
c.101229G>T (p.Glu33743Asp)
n.446+6827C>A
n.220-5269C>A
c.105249G>T (p.Glu35083Asp)
c.79143G>T (p.Glu26381Asp)
c.79002G>T (p.Glu26334Asp)
c.105045G>T (p.Glu35015Asp)
c.100443G>T (p.Glu33481Asp)
c.100440G>T (p.Glu33480Asp)
c.97482G>T (p.Glu32494Asp)
c.79098G>T (p.Glu26366Asp)
c.100593G>T (p.Glu33531Asp)
c.100590G>T (p.Glu33530Asp)
c.100023G>T (p.Glu33341Asp)
c.97365G>T (p.Glu32455Asp)
c.97284G>T (p.Glu32428Asp)
c.79047G>T (p.Glu26349Asp)
c.68901G>T (p.Glu22967Asp)
2g.178530463C=CA1310514645TTN,TTN-AS1c.98448G= (p.Glu32816=)
c.79533G= (p.Glu26511=)
c.79332G= (p.Glu26444=)
c.78957G= (p.Glu26319=)
c.106152G= (p.Glu35384=)
c.101229G= (p.Glu33743=)
n.446+6827C=
n.220-5269C=
c.105249G= (p.Glu35083=)
c.79143G= (p.Glu26381=)
c.79002G= (p.Glu26334=)
c.105045G= (p.Glu35015=)
c.100443G= (p.Glu33481=)
c.100440G= (p.Glu33480=)
c.97482G= (p.Glu32494=)
c.79098G= (p.Glu26366=)
c.100593G= (p.Glu33531=)
c.100590G= (p.Glu33530=)
c.100023G= (p.Glu33341=)
c.97365G= (p.Glu32455=)
c.97284G= (p.Glu32428=)
c.79047G= (p.Glu26349=)
c.68901G= (p.Glu22967=)
2g.178530463C>GCA349406899TTN,TTN-AS1c.98448G>C (p.Glu32816Asp)
c.79533G>C (p.Glu26511Asp)
c.79332G>C (p.Glu26444Asp)
c.78957G>C (p.Glu26319Asp)
c.106152G>C (p.Glu35384Asp)
c.101229G>C (p.Glu33743Asp)
n.446+6827C>G
n.220-5269C>G
c.105249G>C (p.Glu35083Asp)
c.79143G>C (p.Glu26381Asp)
c.79002G>C (p.Glu26334Asp)
c.105045G>C (p.Glu35015Asp)
c.100443G>C (p.Glu33481Asp)
c.100440G>C (p.Glu33480Asp)
c.97482G>C (p.Glu32494Asp)
c.79098G>C (p.Glu26366Asp)
c.100593G>C (p.Glu33531Asp)
c.100590G>C (p.Glu33530Asp)
c.100023G>C (p.Glu33341Asp)
c.97365G>C (p.Glu32455Asp)
c.97284G>C (p.Glu32428Asp)
c.79047G>C (p.Glu26349Asp)
c.68901G>C (p.Glu22967Asp)
2g.178530463C>TCA1985157TTN,TTN-AS1c.98448G>A (p.Glu32816=)
c.79533G>A (p.Glu26511=)
c.79332G>A (p.Glu26444=)
c.78957G>A (p.Glu26319=)
c.106152G>A (p.Glu35384=)
c.101229G>A (p.Glu33743=)
n.446+6827C>T
n.220-5269C>T
c.105249G>A (p.Glu35083=)
c.79143G>A (p.Glu26381=)
c.79002G>A (p.Glu26334=)
c.105045G>A (p.Glu35015=)
c.100443G>A (p.Glu33481=)
c.100440G>A (p.Glu33480=)
c.97482G>A (p.Glu32494=)
c.79098G>A (p.Glu26366=)
c.100593G>A (p.Glu33531=)
c.100590G>A (p.Glu33530=)
c.100023G>A (p.Glu33341=)
c.97365G>A (p.Glu32455=)
c.97284G>A (p.Glu32428=)
c.79047G>A (p.Glu26349=)
c.68901G>A (p.Glu22967=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530464T>ACA349406901TTN,TTN-AS1c.98447A>T (p.Glu32816Val)
c.79532A>T (p.Glu26511Val)
c.79331A>T (p.Glu26444Val)
c.78956A>T (p.Glu26319Val)
c.106151A>T (p.Glu35384Val)
c.101228A>T (p.Glu33743Val)
n.446+6828T>A
n.220-5268T>A
c.105248A>T (p.Glu35083Val)
c.79142A>T (p.Glu26381Val)
c.79001A>T (p.Glu26334Val)
c.105044A>T (p.Glu35015Val)
c.100442A>T (p.Glu33481Val)
c.100439A>T (p.Glu33480Val)
c.97481A>T (p.Glu32494Val)
c.79097A>T (p.Glu26366Val)
c.100592A>T (p.Glu33531Val)
c.100589A>T (p.Glu33530Val)
c.100022A>T (p.Glu33341Val)
c.97364A>T (p.Glu32455Val)
c.97283A>T (p.Glu32428Val)
c.79046A>T (p.Glu26349Val)
c.68900A>T (p.Glu22967Val)
2g.178530464T>CCA349406903TTN,TTN-AS1c.98447A>G (p.Glu32816Gly)
c.79532A>G (p.Glu26511Gly)
c.79331A>G (p.Glu26444Gly)
c.78956A>G (p.Glu26319Gly)
c.106151A>G (p.Glu35384Gly)
c.101228A>G (p.Glu33743Gly)
n.446+6828T>C
n.220-5268T>C
c.105248A>G (p.Glu35083Gly)
c.79142A>G (p.Glu26381Gly)
c.79001A>G (p.Glu26334Gly)
c.105044A>G (p.Glu35015Gly)
c.100442A>G (p.Glu33481Gly)
c.100439A>G (p.Glu33480Gly)
c.97481A>G (p.Glu32494Gly)
c.79097A>G (p.Glu26366Gly)
c.100592A>G (p.Glu33531Gly)
c.100589A>G (p.Glu33530Gly)
c.100022A>G (p.Glu33341Gly)
c.97364A>G (p.Glu32455Gly)
c.97283A>G (p.Glu32428Gly)
c.79046A>G (p.Glu26349Gly)
c.68900A>G (p.Glu22967Gly)
2g.178530464T>GCA349406905TTN,TTN-AS1c.98447A>C (p.Glu32816Ala)
c.79532A>C (p.Glu26511Ala)
c.79331A>C (p.Glu26444Ala)
c.78956A>C (p.Glu26319Ala)
c.106151A>C (p.Glu35384Ala)
c.101228A>C (p.Glu33743Ala)
n.446+6828T>G
n.220-5268T>G
c.105248A>C (p.Glu35083Ala)
c.79142A>C (p.Glu26381Ala)
c.79001A>C (p.Glu26334Ala)
c.105044A>C (p.Glu35015Ala)
c.100442A>C (p.Glu33481Ala)
c.100439A>C (p.Glu33480Ala)
c.97481A>C (p.Glu32494Ala)
c.79097A>C (p.Glu26366Ala)
c.100592A>C (p.Glu33531Ala)
c.100589A>C (p.Glu33530Ala)
c.100022A>C (p.Glu33341Ala)
c.97364A>C (p.Glu32455Ala)
c.97283A>C (p.Glu32428Ala)
c.79046A>C (p.Glu26349Ala)
c.68900A>C (p.Glu22967Ala)
2g.178530465C>ACA349406907TTN,TTN-AS1c.98446G>T (p.Glu32816Ter)
c.79531G>T (p.Glu26511Ter)
c.79330G>T (p.Glu26444Ter)
c.78955G>T (p.Glu26319Ter)
c.106150G>T (p.Glu35384Ter)
c.101227G>T (p.Glu33743Ter)
n.446+6829C>A
n.220-5267C>A
c.105247G>T (p.Glu35083Ter)
c.79141G>T (p.Glu26381Ter)
c.79000G>T (p.Glu26334Ter)
c.105043G>T (p.Glu35015Ter)
c.100441G>T (p.Glu33481Ter)
c.100438G>T (p.Glu33480Ter)
c.97480G>T (p.Glu32494Ter)
c.79096G>T (p.Glu26366Ter)
c.100591G>T (p.Glu33531Ter)
c.100588G>T (p.Glu33530Ter)
c.100021G>T (p.Glu33341Ter)
c.97363G>T (p.Glu32455Ter)
c.97282G>T (p.Glu32428Ter)
c.79045G>T (p.Glu26349Ter)
c.68899G>T (p.Glu22967Ter)
2g.178530465C=CA1310514647TTN,TTN-AS1c.98446G= (p.Glu32816=)
c.79531G= (p.Glu26511=)
c.79330G= (p.Glu26444=)
c.78955G= (p.Glu26319=)
c.106150G= (p.Glu35384=)
c.101227G= (p.Glu33743=)
n.446+6829C=
n.220-5267C=
c.105247G= (p.Glu35083=)
c.79141G= (p.Glu26381=)
c.79000G= (p.Glu26334=)
c.105043G= (p.Glu35015=)
c.100441G= (p.Glu33481=)
c.100438G= (p.Glu33480=)
c.97480G= (p.Glu32494=)
c.79096G= (p.Glu26366=)
c.100591G= (p.Glu33531=)
c.100588G= (p.Glu33530=)
c.100021G= (p.Glu33341=)
c.97363G= (p.Glu32455=)
c.97282G= (p.Glu32428=)
c.79045G= (p.Glu26349=)
c.68899G= (p.Glu22967=)
2g.178530465C>GCA349406909TTN,TTN-AS1c.98446G>C (p.Glu32816Gln)
c.79531G>C (p.Glu26511Gln)
c.79330G>C (p.Glu26444Gln)
c.78955G>C (p.Glu26319Gln)
c.106150G>C (p.Glu35384Gln)
c.101227G>C (p.Glu33743Gln)
n.446+6829C>G
n.220-5267C>G
c.105247G>C (p.Glu35083Gln)
c.79141G>C (p.Glu26381Gln)
c.79000G>C (p.Glu26334Gln)
c.105043G>C (p.Glu35015Gln)
c.100441G>C (p.Glu33481Gln)
c.100438G>C (p.Glu33480Gln)
c.97480G>C (p.Glu32494Gln)
c.79096G>C (p.Glu26366Gln)
c.100591G>C (p.Glu33531Gln)
c.100588G>C (p.Glu33530Gln)
c.100021G>C (p.Glu33341Gln)
c.97363G>C (p.Glu32455Gln)
c.97282G>C (p.Glu32428Gln)
c.79045G>C (p.Glu26349Gln)
c.68899G>C (p.Glu22967Gln)
 dbSNP gnomAD v2
2g.178530465C>TCA349406911TTN,TTN-AS1c.98446G>A (p.Glu32816Lys)
c.79531G>A (p.Glu26511Lys)
c.79330G>A (p.Glu26444Lys)
c.78955G>A (p.Glu26319Lys)
c.106150G>A (p.Glu35384Lys)
c.101227G>A (p.Glu33743Lys)
n.446+6829C>T
n.220-5267C>T
c.105247G>A (p.Glu35083Lys)
c.79141G>A (p.Glu26381Lys)
c.79000G>A (p.Glu26334Lys)
c.105043G>A (p.Glu35015Lys)
c.100441G>A (p.Glu33481Lys)
c.100438G>A (p.Glu33480Lys)
c.97480G>A (p.Glu32494Lys)
c.79096G>A (p.Glu26366Lys)
c.100591G>A (p.Glu33531Lys)
c.100588G>A (p.Glu33530Lys)
c.100021G>A (p.Glu33341Lys)
c.97363G>A (p.Glu32455Lys)
c.97282G>A (p.Glu32428Lys)
c.79045G>A (p.Glu26349Lys)
c.68899G>A (p.Glu22967Lys)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178530466A>CCA349406913TTN,TTN-AS1c.98445T>G (p.His32815Gln)
c.79530T>G (p.His26510Gln)
c.79329T>G (p.His26443Gln)
c.78954T>G (p.His26318Gln)
c.106149T>G (p.His35383Gln)
c.101226T>G (p.His33742Gln)
n.446+6830A>C
n.220-5266A>C
c.105246T>G (p.His35082Gln)
c.79140T>G (p.His26380Gln)
c.78999T>G (p.His26333Gln)
c.105042T>G (p.His35014Gln)
c.100440T>G (p.His33480Gln)
c.100437T>G (p.His33479Gln)
c.97479T>G (p.His32493Gln)
c.79095T>G (p.His26365Gln)
c.100590T>G (p.His33530Gln)
c.100587T>G (p.His33529Gln)
c.100020T>G (p.His33340Gln)
c.97362T>G (p.His32454Gln)
c.97281T>G (p.His32427Gln)
c.79044T>G (p.His26348Gln)
c.68898T>G (p.His22966Gln)
 gnomAD v4
2g.178530466A>GCA430235035TTN,TTN-AS1c.98445T>C (p.His32815=)
c.79530T>C (p.His26510=)
c.79329T>C (p.His26443=)
c.78954T>C (p.His26318=)
c.106149T>C (p.His35383=)
c.101226T>C (p.His33742=)
n.446+6830A>G
n.220-5266A>G
c.105246T>C (p.His35082=)
c.79140T>C (p.His26380=)
c.78999T>C (p.His26333=)
c.105042T>C (p.His35014=)
c.100440T>C (p.His33480=)
c.100437T>C (p.His33479=)
c.97479T>C (p.His32493=)
c.79095T>C (p.His26365=)
c.100590T>C (p.His33530=)
c.100587T>C (p.His33529=)
c.100020T>C (p.His33340=)
c.97362T>C (p.His32454=)
c.97281T>C (p.His32427=)
c.79044T>C (p.His26348=)
c.68898T>C (p.His22966=)
2g.178530466A>TCA349406915TTN,TTN-AS1c.98445T>A (p.His32815Gln)
c.79530T>A (p.His26510Gln)
c.79329T>A (p.His26443Gln)
c.78954T>A (p.His26318Gln)
c.106149T>A (p.His35383Gln)
c.101226T>A (p.His33742Gln)
n.446+6830A>T
n.220-5266A>T
c.105246T>A (p.His35082Gln)
c.79140T>A (p.His26380Gln)
c.78999T>A (p.His26333Gln)
c.105042T>A (p.His35014Gln)
c.100440T>A (p.His33480Gln)
c.100437T>A (p.His33479Gln)
c.97479T>A (p.His32493Gln)
c.79095T>A (p.His26365Gln)
c.100590T>A (p.His33530Gln)
c.100587T>A (p.His33529Gln)
c.100020T>A (p.His33340Gln)
c.97362T>A (p.His32454Gln)
c.97281T>A (p.His32427Gln)
c.79044T>A (p.His26348Gln)
c.68898T>A (p.His22966Gln)
2g.178530467T>ACA349406918TTN,TTN-AS1c.98444A>T (p.His32815Leu)
c.79529A>T (p.His26510Leu)
c.79328A>T (p.His26443Leu)
c.78953A>T (p.His26318Leu)
c.106148A>T (p.His35383Leu)
c.101225A>T (p.His33742Leu)
n.446+6831T>A
n.220-5265T>A
c.105245A>T (p.His35082Leu)
c.79139A>T (p.His26380Leu)
c.78998A>T (p.His26333Leu)
c.105041A>T (p.His35014Leu)
c.100439A>T (p.His33480Leu)
c.100436A>T (p.His33479Leu)
c.97478A>T (p.His32493Leu)
c.79094A>T (p.His26365Leu)
c.100589A>T (p.His33530Leu)
c.100586A>T (p.His33529Leu)
c.100019A>T (p.His33340Leu)
c.97361A>T (p.His32454Leu)
c.97280A>T (p.His32427Leu)
c.79043A>T (p.His26348Leu)
c.68897A>T (p.His22966Leu)
2g.178530467T>CCA349406920TTN,TTN-AS1c.98444A>G (p.His32815Arg)
c.79529A>G (p.His26510Arg)
c.79328A>G (p.His26443Arg)
c.78953A>G (p.His26318Arg)
c.106148A>G (p.His35383Arg)
c.101225A>G (p.His33742Arg)
n.446+6831T>C
n.220-5265T>C
c.105245A>G (p.His35082Arg)
c.79139A>G (p.His26380Arg)
c.78998A>G (p.His26333Arg)
c.105041A>G (p.His35014Arg)
c.100439A>G (p.His33480Arg)
c.100436A>G (p.His33479Arg)
c.97478A>G (p.His32493Arg)
c.79094A>G (p.His26365Arg)
c.100589A>G (p.His33530Arg)
c.100586A>G (p.His33529Arg)
c.100019A>G (p.His33340Arg)
c.97361A>G (p.His32454Arg)
c.97280A>G (p.His32427Arg)
c.79043A>G (p.His26348Arg)
c.68897A>G (p.His22966Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178530467T>GCA349406921TTN,TTN-AS1c.98444A>C (p.His32815Pro)
c.79529A>C (p.His26510Pro)
c.79328A>C (p.His26443Pro)
c.78953A>C (p.His26318Pro)
c.106148A>C (p.His35383Pro)
c.101225A>C (p.His33742Pro)
n.446+6831T>G
n.220-5265T>G
c.105245A>C (p.His35082Pro)
c.79139A>C (p.His26380Pro)
c.78998A>C (p.His26333Pro)
c.105041A>C (p.His35014Pro)
c.100439A>C (p.His33480Pro)
c.100436A>C (p.His33479Pro)
c.97478A>C (p.His32493Pro)
c.79094A>C (p.His26365Pro)
c.100589A>C (p.His33530Pro)
c.100586A>C (p.His33529Pro)
c.100019A>C (p.His33340Pro)
c.97361A>C (p.His32454Pro)
c.97280A>C (p.His32427Pro)
c.79043A>C (p.His26348Pro)
c.68897A>C (p.His22966Pro)
2g.178530467T=CA1310514651TTN,TTN-AS1c.98444A= (p.His32815=)
c.79529A= (p.His26510=)
c.79328A= (p.His26443=)
c.78953A= (p.His26318=)
c.106148A= (p.His35383=)
c.101225A= (p.His33742=)
n.446+6831T=
n.220-5265T=
c.105245A= (p.His35082=)
c.79139A= (p.His26380=)
c.78998A= (p.His26333=)
c.105041A= (p.His35014=)
c.100439A= (p.His33480=)
c.100436A= (p.His33479=)
c.97478A= (p.His32493=)
c.79094A= (p.His26365=)
c.100589A= (p.His33530=)
c.100586A= (p.His33529=)
c.100019A= (p.His33340=)
c.97361A= (p.His32454=)
c.97280A= (p.His32427=)
c.79043A= (p.His26348=)
c.68897A= (p.His22966=)
2g.178530468G>ACA349406922TTN,TTN-AS1c.98443C>T (p.His32815Tyr)
c.79528C>T (p.His26510Tyr)
c.79327C>T (p.His26443Tyr)
c.78952C>T (p.His26318Tyr)
c.106147C>T (p.His35383Tyr)
c.101224C>T (p.His33742Tyr)
n.446+6832G>A
n.220-5264G>A
c.105244C>T (p.His35082Tyr)
c.79138C>T (p.His26380Tyr)
c.78997C>T (p.His26333Tyr)
c.105040C>T (p.His35014Tyr)
c.100438C>T (p.His33480Tyr)
c.100435C>T (p.His33479Tyr)
c.97477C>T (p.His32493Tyr)
c.79093C>T (p.His26365Tyr)
c.100588C>T (p.His33530Tyr)
c.100585C>T (p.His33529Tyr)
c.100018C>T (p.His33340Tyr)
c.97360C>T (p.His32454Tyr)
c.97279C>T (p.His32427Tyr)
c.79042C>T (p.His26348Tyr)
c.68896C>T (p.His22966Tyr)
2g.178530468G>CCA349406927TTN,TTN-AS1c.98443C>G (p.His32815Asp)
c.79528C>G (p.His26510Asp)
c.79327C>G (p.His26443Asp)
c.78952C>G (p.His26318Asp)
c.106147C>G (p.His35383Asp)
c.101224C>G (p.His33742Asp)
n.446+6832G>C
n.220-5264G>C
c.105244C>G (p.His35082Asp)
c.79138C>G (p.His26380Asp)
c.78997C>G (p.His26333Asp)
c.105040C>G (p.His35014Asp)
c.100438C>G (p.His33480Asp)
c.100435C>G (p.His33479Asp)
c.97477C>G (p.His32493Asp)
c.79093C>G (p.His26365Asp)
c.100588C>G (p.His33530Asp)
c.100585C>G (p.His33529Asp)
c.100018C>G (p.His33340Asp)
c.97360C>G (p.His32454Asp)
c.97279C>G (p.His32427Asp)
c.79042C>G (p.His26348Asp)
c.68896C>G (p.His22966Asp)
2g.178530468G>TCA349406924TTN,TTN-AS1c.98443C>A (p.His32815Asn)
c.79528C>A (p.His26510Asn)
c.79327C>A (p.His26443Asn)
c.78952C>A (p.His26318Asn)
c.106147C>A (p.His35383Asn)
c.101224C>A (p.His33742Asn)
n.446+6832G>T
n.220-5264G>T
c.105244C>A (p.His35082Asn)
c.79138C>A (p.His26380Asn)
c.78997C>A (p.His26333Asn)
c.105040C>A (p.His35014Asn)
c.100438C>A (p.His33480Asn)
c.100435C>A (p.His33479Asn)
c.97477C>A (p.His32493Asn)
c.79093C>A (p.His26365Asn)
c.100588C>A (p.His33530Asn)
c.100585C>A (p.His33529Asn)
c.100018C>A (p.His33340Asn)
c.97360C>A (p.His32454Asn)
c.97279C>A (p.His32427Asn)
c.79042C>A (p.His26348Asn)
c.68896C>A (p.His22966Asn)
2g.178530469delCA2586970738TTN,TTN-AS1c.98443del (p.His32815MetfsTer22)
c.79528del (p.His26510MetfsTer22)
c.79327del (p.His26443MetfsTer22)
c.78952del (p.His26318MetfsTer22)
c.106147del (p.His35383MetfsTer22)
c.101224del (p.His33742MetfsTer22)
n.446+6833del
n.220-5263del
c.105244del (p.His35082MetfsTer22)
c.79138del (p.His26380MetfsTer22)
c.78997del (p.His26333MetfsTer22)
c.105040del (p.His35014MetfsTer22)
c.100438del (p.His33480MetfsTer22)
c.100435del (p.His33479MetfsTer22)
c.97477del (p.His32493MetfsTer22)
c.79093del (p.His26365MetfsTer22)
c.100588del (p.His33530MetfsTer22)
c.100585del (p.His33529MetfsTer22)
c.100018del (p.His33340MetfsTer22)
c.97360del (p.His32454MetfsTer22)
c.97279del (p.His32427MetfsTer22)
c.79042del (p.His26348MetfsTer22)
c.68896del (p.His22966MetfsTer22)
 gnomAD v4
2g.178530469G>ACA430235043TTN,TTN-AS1c.98442C>T (p.Ile32814=)
c.79527C>T (p.Ile26509=)
c.79326C>T (p.Ile26442=)
c.78951C>T (p.Ile26317=)
c.106146C>T (p.Ile35382=)
c.101223C>T (p.Ile33741=)
n.446+6833G>A
n.220-5263G>A
c.105243C>T (p.Ile35081=)
c.79137C>T (p.Ile26379=)
c.78996C>T (p.Ile26332=)
c.105039C>T (p.Ile35013=)
c.100437C>T (p.Ile33479=)
c.100434C>T (p.Ile33478=)
c.97476C>T (p.Ile32492=)
c.79092C>T (p.Ile26364=)
c.100587C>T (p.Ile33529=)
c.100584C>T (p.Ile33528=)
c.100017C>T (p.Ile33339=)
c.97359C>T (p.Ile32453=)
c.97278C>T (p.Ile32426=)
c.79041C>T (p.Ile26347=)
c.68895C>T (p.Ile22965=)
2g.178530469G>CCA349406929TTN,TTN-AS1c.98442C>G (p.Ile32814Met)
c.79527C>G (p.Ile26509Met)
c.79326C>G (p.Ile26442Met)
c.78951C>G (p.Ile26317Met)
c.106146C>G (p.Ile35382Met)
c.101223C>G (p.Ile33741Met)
n.446+6833G>C
n.220-5263G>C
c.105243C>G (p.Ile35081Met)
c.79137C>G (p.Ile26379Met)
c.78996C>G (p.Ile26332Met)
c.105039C>G (p.Ile35013Met)
c.100437C>G (p.Ile33479Met)
c.100434C>G (p.Ile33478Met)
c.97476C>G (p.Ile32492Met)
c.79092C>G (p.Ile26364Met)
c.100587C>G (p.Ile33529Met)
c.100584C>G (p.Ile33528Met)
c.100017C>G (p.Ile33339Met)
c.97359C>G (p.Ile32453Met)
c.97278C>G (p.Ile32426Met)
c.79041C>G (p.Ile26347Met)
c.68895C>G (p.Ile22965Met)
2g.178530469G=CA1310514652TTN,TTN-AS1c.98442C= (p.Ile32814=)
c.79527C= (p.Ile26509=)
c.79326C= (p.Ile26442=)
c.78951C= (p.Ile26317=)
c.106146C= (p.Ile35382=)
c.101223C= (p.Ile33741=)
n.446+6833G=
n.220-5263G=
c.105243C= (p.Ile35081=)
c.79137C= (p.Ile26379=)
c.78996C= (p.Ile26332=)
c.105039C= (p.Ile35013=)
c.100437C= (p.Ile33479=)
c.100434C= (p.Ile33478=)
c.97476C= (p.Ile32492=)
c.79092C= (p.Ile26364=)
c.100587C= (p.Ile33529=)
c.100584C= (p.Ile33528=)
c.100017C= (p.Ile33339=)
c.97359C= (p.Ile32453=)
c.97278C= (p.Ile32426=)
c.79041C= (p.Ile26347=)
c.68895C= (p.Ile22965=)
2g.178530469G>TCA430235041TTN,TTN-AS1c.98442C>A (p.Ile32814=)
c.79527C>A (p.Ile26509=)
c.79326C>A (p.Ile26442=)
c.78951C>A (p.Ile26317=)
c.106146C>A (p.Ile35382=)
c.101223C>A (p.Ile33741=)
n.446+6833G>T
n.220-5263G>T
c.105243C>A (p.Ile35081=)
c.79137C>A (p.Ile26379=)
c.78996C>A (p.Ile26332=)
c.105039C>A (p.Ile35013=)
c.100437C>A (p.Ile33479=)
c.100434C>A (p.Ile33478=)
c.97476C>A (p.Ile32492=)
c.79092C>A (p.Ile26364=)
c.100587C>A (p.Ile33529=)
c.100584C>A (p.Ile33528=)
c.100017C>A (p.Ile33339=)
c.97359C>A (p.Ile32453=)
c.97278C>A (p.Ile32426=)
c.79041C>A (p.Ile26347=)
c.68895C>A (p.Ile22965=)
 dbSNP gnomAD v3 gnomAD v4
2g.178530470A=CA1310514654TTN,TTN-AS1c.98441T= (p.Ile32814=)
c.79526T= (p.Ile26509=)
c.79325T= (p.Ile26442=)
c.78950T= (p.Ile26317=)
c.106145T= (p.Ile35382=)
c.101222T= (p.Ile33741=)
n.446+6834A=
n.220-5262A=
c.105242T= (p.Ile35081=)
c.79136T= (p.Ile26379=)
c.78995T= (p.Ile26332=)
c.105038T= (p.Ile35013=)
c.100436T= (p.Ile33479=)
c.100433T= (p.Ile33478=)
c.97475T= (p.Ile32492=)
c.79091T= (p.Ile26364=)
c.100586T= (p.Ile33529=)
c.100583T= (p.Ile33528=)
c.100016T= (p.Ile33339=)
c.97358T= (p.Ile32453=)
c.97277T= (p.Ile32426=)
c.79040T= (p.Ile26347=)
c.68894T= (p.Ile22965=)
2g.178530470A>CCA349406934TTN,TTN-AS1c.98441T>G (p.Ile32814Ser)
c.79526T>G (p.Ile26509Ser)
c.79325T>G (p.Ile26442Ser)
c.78950T>G (p.Ile26317Ser)
c.106145T>G (p.Ile35382Ser)
c.101222T>G (p.Ile33741Ser)
n.446+6834A>C
n.220-5262A>C
c.105242T>G (p.Ile35081Ser)
c.79136T>G (p.Ile26379Ser)
c.78995T>G (p.Ile26332Ser)
c.105038T>G (p.Ile35013Ser)
c.100436T>G (p.Ile33479Ser)
c.100433T>G (p.Ile33478Ser)
c.97475T>G (p.Ile32492Ser)
c.79091T>G (p.Ile26364Ser)
c.100586T>G (p.Ile33529Ser)
c.100583T>G (p.Ile33528Ser)
c.100016T>G (p.Ile33339Ser)
c.97358T>G (p.Ile32453Ser)
c.97277T>G (p.Ile32426Ser)
c.79040T>G (p.Ile26347Ser)
c.68894T>G (p.Ile22965Ser)
2g.178530470A>GCA349406931TTN,TTN-AS1c.98441T>C (p.Ile32814Thr)
c.79526T>C (p.Ile26509Thr)
c.79325T>C (p.Ile26442Thr)
c.78950T>C (p.Ile26317Thr)
c.106145T>C (p.Ile35382Thr)
c.101222T>C (p.Ile33741Thr)
n.446+6834A>G
n.220-5262A>G
c.105242T>C (p.Ile35081Thr)
c.79136T>C (p.Ile26379Thr)
c.78995T>C (p.Ile26332Thr)
c.105038T>C (p.Ile35013Thr)
c.100436T>C (p.Ile33479Thr)
c.100433T>C (p.Ile33478Thr)
c.97475T>C (p.Ile32492Thr)
c.79091T>C (p.Ile26364Thr)
c.100586T>C (p.Ile33529Thr)
c.100583T>C (p.Ile33528Thr)
c.100016T>C (p.Ile33339Thr)
c.97358T>C (p.Ile32453Thr)
c.97277T>C (p.Ile32426Thr)
c.79040T>C (p.Ile26347Thr)
c.68894T>C (p.Ile22965Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178530470A>TCA349406933TTN,TTN-AS1c.98441T>A (p.Ile32814Asn)
c.79526T>A (p.Ile26509Asn)
c.79325T>A (p.Ile26442Asn)
c.78950T>A (p.Ile26317Asn)
c.106145T>A (p.Ile35382Asn)
c.101222T>A (p.Ile33741Asn)
n.446+6834A>T
n.220-5262A>T
c.105242T>A (p.Ile35081Asn)
c.79136T>A (p.Ile26379Asn)
c.78995T>A (p.Ile26332Asn)
c.105038T>A (p.Ile35013Asn)
c.100436T>A (p.Ile33479Asn)
c.100433T>A (p.Ile33478Asn)
c.97475T>A (p.Ile32492Asn)
c.79091T>A (p.Ile26364Asn)
c.100586T>A (p.Ile33529Asn)
c.100583T>A (p.Ile33528Asn)
c.100016T>A (p.Ile33339Asn)
c.97358T>A (p.Ile32453Asn)
c.97277T>A (p.Ile32426Asn)
c.79040T>A (p.Ile26347Asn)
c.68894T>A (p.Ile22965Asn)
2g.178530471T>ACA349406935TTN,TTN-AS1c.98440A>T (p.Ile32814Phe)
c.79525A>T (p.Ile26509Phe)
c.79324A>T (p.Ile26442Phe)
c.78949A>T (p.Ile26317Phe)
c.106144A>T (p.Ile35382Phe)
c.101221A>T (p.Ile33741Phe)
n.446+6835T>A
n.220-5261T>A
c.105241A>T (p.Ile35081Phe)
c.79135A>T (p.Ile26379Phe)
c.78994A>T (p.Ile26332Phe)
c.105037A>T (p.Ile35013Phe)
c.100435A>T (p.Ile33479Phe)
c.100432A>T (p.Ile33478Phe)
c.97474A>T (p.Ile32492Phe)
c.79090A>T (p.Ile26364Phe)
c.100585A>T (p.Ile33529Phe)
c.100582A>T (p.Ile33528Phe)
c.100015A>T (p.Ile33339Phe)
c.97357A>T (p.Ile32453Phe)
c.97276A>T (p.Ile32426Phe)
c.79039A>T (p.Ile26347Phe)
c.68893A>T (p.Ile22965Phe)
2g.178530471T>CCA349406936TTN,TTN-AS1c.98440A>G (p.Ile32814Val)
c.79525A>G (p.Ile26509Val)
c.79324A>G (p.Ile26442Val)
c.78949A>G (p.Ile26317Val)
c.106144A>G (p.Ile35382Val)
c.101221A>G (p.Ile33741Val)
n.446+6835T>C
n.220-5261T>C
c.105241A>G (p.Ile35081Val)
c.79135A>G (p.Ile26379Val)
c.78994A>G (p.Ile26332Val)
c.105037A>G (p.Ile35013Val)
c.100435A>G (p.Ile33479Val)
c.100432A>G (p.Ile33478Val)
c.97474A>G (p.Ile32492Val)
c.79090A>G (p.Ile26364Val)
c.100585A>G (p.Ile33529Val)
c.100582A>G (p.Ile33528Val)
c.100015A>G (p.Ile33339Val)
c.97357A>G (p.Ile32453Val)
c.97276A>G (p.Ile32426Val)
c.79039A>G (p.Ile26347Val)
c.68893A>G (p.Ile22965Val)
2g.178530471T>GCA349406937TTN,TTN-AS1c.98440A>C (p.Ile32814Leu)
c.79525A>C (p.Ile26509Leu)
c.79324A>C (p.Ile26442Leu)
c.78949A>C (p.Ile26317Leu)
c.106144A>C (p.Ile35382Leu)
c.101221A>C (p.Ile33741Leu)
n.446+6835T>G
n.220-5261T>G
c.105241A>C (p.Ile35081Leu)
c.79135A>C (p.Ile26379Leu)
c.78994A>C (p.Ile26332Leu)
c.105037A>C (p.Ile35013Leu)
c.100435A>C (p.Ile33479Leu)
c.100432A>C (p.Ile33478Leu)
c.97474A>C (p.Ile32492Leu)
c.79090A>C (p.Ile26364Leu)
c.100585A>C (p.Ile33529Leu)
c.100582A>C (p.Ile33528Leu)
c.100015A>C (p.Ile33339Leu)
c.97357A>C (p.Ile32453Leu)
c.97276A>C (p.Ile32426Leu)
c.79039A>C (p.Ile26347Leu)
c.68893A>C (p.Ile22965Leu)
2g.178530472A=CA1310514656TTN,TTN-AS1c.98439T= (p.Ser32813=)
c.79524T= (p.Ser26508=)
c.79323T= (p.Ser26441=)
c.78948T= (p.Ser26316=)
c.106143T= (p.Ser35381=)
c.101220T= (p.Ser33740=)
n.446+6836A=
n.220-5260A=
c.105240T= (p.Ser35080=)
c.79134T= (p.Ser26378=)
c.78993T= (p.Ser26331=)
c.105036T= (p.Ser35012=)
c.100434T= (p.Ser33478=)
c.100431T= (p.Ser33477=)
c.97473T= (p.Ser32491=)
c.79089T= (p.Ser26363=)
c.100584T= (p.Ser33528=)
c.100581T= (p.Ser33527=)
c.100014T= (p.Ser33338=)
c.97356T= (p.Ser32452=)
c.97275T= (p.Ser32425=)
c.79038T= (p.Ser26346=)
c.68892T= (p.Ser22964=)
2g.178530472A>CCA349406938TTN,TTN-AS1c.98439T>G (p.Ser32813Arg)
c.79524T>G (p.Ser26508Arg)
c.79323T>G (p.Ser26441Arg)
c.78948T>G (p.Ser26316Arg)
c.106143T>G (p.Ser35381Arg)
c.101220T>G (p.Ser33740Arg)
n.446+6836A>C
n.220-5260A>C
c.105240T>G (p.Ser35080Arg)
c.79134T>G (p.Ser26378Arg)
c.78993T>G (p.Ser26331Arg)
c.105036T>G (p.Ser35012Arg)
c.100434T>G (p.Ser33478Arg)
c.100431T>G (p.Ser33477Arg)
c.97473T>G (p.Ser32491Arg)
c.79089T>G (p.Ser26363Arg)
c.100584T>G (p.Ser33528Arg)
c.100581T>G (p.Ser33527Arg)
c.100014T>G (p.Ser33338Arg)
c.97356T>G (p.Ser32452Arg)
c.97275T>G (p.Ser32425Arg)
c.79038T>G (p.Ser26346Arg)
c.68892T>G (p.Ser22964Arg)
2g.178530472A>GCA60953382TTN,TTN-AS1c.98439T>C (p.Ser32813=)
c.79524T>C (p.Ser26508=)
c.79323T>C (p.Ser26441=)
c.78948T>C (p.Ser26316=)
c.106143T>C (p.Ser35381=)
c.101220T>C (p.Ser33740=)
n.446+6836A>G
n.220-5260A>G
c.105240T>C (p.Ser35080=)
c.79134T>C (p.Ser26378=)
c.78993T>C (p.Ser26331=)
c.105036T>C (p.Ser35012=)
c.100434T>C (p.Ser33478=)
c.100431T>C (p.Ser33477=)
c.97473T>C (p.Ser32491=)
c.79089T>C (p.Ser26363=)
c.100584T>C (p.Ser33528=)
c.100581T>C (p.Ser33527=)
c.100014T>C (p.Ser33338=)
c.97356T>C (p.Ser32452=)
c.97275T>C (p.Ser32425=)
c.79038T>C (p.Ser26346=)
c.68892T>C (p.Ser22964=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530472A>TCA349406939TTN,TTN-AS1c.98439T>A (p.Ser32813Arg)
c.79524T>A (p.Ser26508Arg)
c.79323T>A (p.Ser26441Arg)
c.78948T>A (p.Ser26316Arg)
c.106143T>A (p.Ser35381Arg)
c.101220T>A (p.Ser33740Arg)
n.446+6836A>T
n.220-5260A>T
c.105240T>A (p.Ser35080Arg)
c.79134T>A (p.Ser26378Arg)
c.78993T>A (p.Ser26331Arg)
c.105036T>A (p.Ser35012Arg)
c.100434T>A (p.Ser33478Arg)
c.100431T>A (p.Ser33477Arg)
c.97473T>A (p.Ser32491Arg)
c.79089T>A (p.Ser26363Arg)
c.100584T>A (p.Ser33528Arg)
c.100581T>A (p.Ser33527Arg)
c.100014T>A (p.Ser33338Arg)
c.97356T>A (p.Ser32452Arg)
c.97275T>A (p.Ser32425Arg)
c.79038T>A (p.Ser26346Arg)
c.68892T>A (p.Ser22964Arg)
2g.178530473C>ACA349406940TTN,TTN-AS1c.98438G>T (p.Ser32813Ile)
c.79523G>T (p.Ser26508Ile)
c.79322G>T (p.Ser26441Ile)
c.78947G>T (p.Ser26316Ile)
c.106142G>T (p.Ser35381Ile)
c.101219G>T (p.Ser33740Ile)
n.446+6837C>A
n.220-5259C>A
c.105239G>T (p.Ser35080Ile)
c.79133G>T (p.Ser26378Ile)
c.78992G>T (p.Ser26331Ile)
c.105035G>T (p.Ser35012Ile)
c.100433G>T (p.Ser33478Ile)
c.100430G>T (p.Ser33477Ile)
c.97472G>T (p.Ser32491Ile)
c.79088G>T (p.Ser26363Ile)
c.100583G>T (p.Ser33528Ile)
c.100580G>T (p.Ser33527Ile)
c.100013G>T (p.Ser33338Ile)
c.97355G>T (p.Ser32452Ile)
c.97274G>T (p.Ser32425Ile)
c.79037G>T (p.Ser26346Ile)
c.68891G>T (p.Ser22964Ile)
 gnomAD v4
2g.178530473C=CA1310514659TTN,TTN-AS1c.98438G= (p.Ser32813=)
c.79523G= (p.Ser26508=)
c.79322G= (p.Ser26441=)
c.78947G= (p.Ser26316=)
c.106142G= (p.Ser35381=)
c.101219G= (p.Ser33740=)
n.446+6837C=
n.220-5259C=
c.105239G= (p.Ser35080=)
c.79133G= (p.Ser26378=)
c.78992G= (p.Ser26331=)
c.105035G= (p.Ser35012=)
c.100433G= (p.Ser33478=)
c.100430G= (p.Ser33477=)
c.97472G= (p.Ser32491=)
c.79088G= (p.Ser26363=)
c.100583G= (p.Ser33528=)
c.100580G= (p.Ser33527=)
c.100013G= (p.Ser33338=)
c.97355G= (p.Ser32452=)
c.97274G= (p.Ser32425=)
c.79037G= (p.Ser26346=)
c.68891G= (p.Ser22964=)
2g.178530473C>GCA349406941TTN,TTN-AS1c.98438G>C (p.Ser32813Thr)
c.79523G>C (p.Ser26508Thr)
c.79322G>C (p.Ser26441Thr)
c.78947G>C (p.Ser26316Thr)
c.106142G>C (p.Ser35381Thr)
c.101219G>C (p.Ser33740Thr)
n.446+6837C>G
n.220-5259C>G
c.105239G>C (p.Ser35080Thr)
c.79133G>C (p.Ser26378Thr)
c.78992G>C (p.Ser26331Thr)
c.105035G>C (p.Ser35012Thr)
c.100433G>C (p.Ser33478Thr)
c.100430G>C (p.Ser33477Thr)
c.97472G>C (p.Ser32491Thr)
c.79088G>C (p.Ser26363Thr)
c.100583G>C (p.Ser33528Thr)
c.100580G>C (p.Ser33527Thr)
c.100013G>C (p.Ser33338Thr)
c.97355G>C (p.Ser32452Thr)
c.97274G>C (p.Ser32425Thr)
c.79037G>C (p.Ser26346Thr)
c.68891G>C (p.Ser22964Thr)
2g.178530473C>TCA349406942TTN,TTN-AS1c.98438G>A (p.Ser32813Asn)
c.79523G>A (p.Ser26508Asn)
c.79322G>A (p.Ser26441Asn)
c.78947G>A (p.Ser26316Asn)
c.106142G>A (p.Ser35381Asn)
c.101219G>A (p.Ser33740Asn)
n.446+6837C>T
n.220-5259C>T
c.105239G>A (p.Ser35080Asn)
c.79133G>A (p.Ser26378Asn)
c.78992G>A (p.Ser26331Asn)
c.105035G>A (p.Ser35012Asn)
c.100433G>A (p.Ser33478Asn)
c.100430G>A (p.Ser33477Asn)
c.97472G>A (p.Ser32491Asn)
c.79088G>A (p.Ser26363Asn)
c.100583G>A (p.Ser33528Asn)
c.100580G>A (p.Ser33527Asn)
c.100013G>A (p.Ser33338Asn)
c.97355G>A (p.Ser32452Asn)
c.97274G>A (p.Ser32425Asn)
c.79037G>A (p.Ser26346Asn)
c.68891G>A (p.Ser22964Asn)
 dbSNP gnomAD v4
2g.178530474T>ACA349406943TTN,TTN-AS1c.98437A>T (p.Ser32813Cys)
c.79522A>T (p.Ser26508Cys)
c.79321A>T (p.Ser26441Cys)
c.78946A>T (p.Ser26316Cys)
c.106141A>T (p.Ser35381Cys)
c.101218A>T (p.Ser33740Cys)
n.446+6838T>A
n.220-5258T>A
c.105238A>T (p.Ser35080Cys)
c.79132A>T (p.Ser26378Cys)
c.78991A>T (p.Ser26331Cys)
c.105034A>T (p.Ser35012Cys)
c.100432A>T (p.Ser33478Cys)
c.100429A>T (p.Ser33477Cys)
c.97471A>T (p.Ser32491Cys)
c.79087A>T (p.Ser26363Cys)
c.100582A>T (p.Ser33528Cys)
c.100579A>T (p.Ser33527Cys)
c.100012A>T (p.Ser33338Cys)
c.97354A>T (p.Ser32452Cys)
c.97273A>T (p.Ser32425Cys)
c.79036A>T (p.Ser26346Cys)
c.68890A>T (p.Ser22964Cys)
2g.178530474T>CCA349406944TTN,TTN-AS1c.98437A>G (p.Ser32813Gly)
c.79522A>G (p.Ser26508Gly)
c.79321A>G (p.Ser26441Gly)
c.78946A>G (p.Ser26316Gly)
c.106141A>G (p.Ser35381Gly)
c.101218A>G (p.Ser33740Gly)
n.446+6838T>C
n.220-5258T>C
c.105238A>G (p.Ser35080Gly)
c.79132A>G (p.Ser26378Gly)
c.78991A>G (p.Ser26331Gly)
c.105034A>G (p.Ser35012Gly)
c.100432A>G (p.Ser33478Gly)
c.100429A>G (p.Ser33477Gly)
c.97471A>G (p.Ser32491Gly)
c.79087A>G (p.Ser26363Gly)
c.100582A>G (p.Ser33528Gly)
c.100579A>G (p.Ser33527Gly)
c.100012A>G (p.Ser33338Gly)
c.97354A>G (p.Ser32452Gly)
c.97273A>G (p.Ser32425Gly)
c.79036A>G (p.Ser26346Gly)
c.68890A>G (p.Ser22964Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178530474T>GCA349406945TTN,TTN-AS1c.98437A>C (p.Ser32813Arg)
c.79522A>C (p.Ser26508Arg)
c.79321A>C (p.Ser26441Arg)
c.78946A>C (p.Ser26316Arg)
c.106141A>C (p.Ser35381Arg)
c.101218A>C (p.Ser33740Arg)
n.446+6838T>G
n.220-5258T>G
c.105238A>C (p.Ser35080Arg)
c.79132A>C (p.Ser26378Arg)
c.78991A>C (p.Ser26331Arg)
c.105034A>C (p.Ser35012Arg)
c.100432A>C (p.Ser33478Arg)
c.100429A>C (p.Ser33477Arg)
c.97471A>C (p.Ser32491Arg)
c.79087A>C (p.Ser26363Arg)
c.100582A>C (p.Ser33528Arg)
c.100579A>C (p.Ser33527Arg)
c.100012A>C (p.Ser33338Arg)
c.97354A>C (p.Ser32452Arg)
c.97273A>C (p.Ser32425Arg)
c.79036A>C (p.Ser26346Arg)
c.68890A>C (p.Ser22964Arg)
2g.178530474T=CA1310514661TTN,TTN-AS1c.98437A= (p.Ser32813=)
c.79522A= (p.Ser26508=)
c.79321A= (p.Ser26441=)
c.78946A= (p.Ser26316=)
c.106141A= (p.Ser35381=)
c.101218A= (p.Ser33740=)
n.446+6838T=
n.220-5258T=
c.105238A= (p.Ser35080=)
c.79132A= (p.Ser26378=)
c.78991A= (p.Ser26331=)
c.105034A= (p.Ser35012=)
c.100432A= (p.Ser33478=)
c.100429A= (p.Ser33477=)
c.97471A= (p.Ser32491=)
c.79087A= (p.Ser26363=)
c.100582A= (p.Ser33528=)
c.100579A= (p.Ser33527=)
c.100012A= (p.Ser33338=)
c.97354A= (p.Ser32452=)
c.97273A= (p.Ser32425=)
c.79036A= (p.Ser26346=)
c.68890A= (p.Ser22964=)
2g.178530475C>ACA349406946TTN,TTN-AS1c.98436G>T (p.Lys32812Asn)
c.79521G>T (p.Lys26507Asn)
c.79320G>T (p.Lys26440Asn)
c.78945G>T (p.Lys26315Asn)
c.106140G>T (p.Lys35380Asn)
c.101217G>T (p.Lys33739Asn)
n.446+6839C>A
n.220-5257C>A
c.105237G>T (p.Lys35079Asn)
c.79131G>T (p.Lys26377Asn)
c.78990G>T (p.Lys26330Asn)
c.105033G>T (p.Lys35011Asn)
c.100431G>T (p.Lys33477Asn)
c.100428G>T (p.Lys33476Asn)
c.97470G>T (p.Lys32490Asn)
c.79086G>T (p.Lys26362Asn)
c.100581G>T (p.Lys33527Asn)
c.100578G>T (p.Lys33526Asn)
c.100011G>T (p.Lys33337Asn)
c.97353G>T (p.Lys32451Asn)
c.97272G>T (p.Lys32424Asn)
c.79035G>T (p.Lys26345Asn)
c.68889G>T (p.Lys22963Asn)
2g.178530475C>GCA349406947TTN,TTN-AS1c.98436G>C (p.Lys32812Asn)
c.79521G>C (p.Lys26507Asn)
c.79320G>C (p.Lys26440Asn)
c.78945G>C (p.Lys26315Asn)
c.106140G>C (p.Lys35380Asn)
c.101217G>C (p.Lys33739Asn)
n.446+6839C>G
n.220-5257C>G
c.105237G>C (p.Lys35079Asn)
c.79131G>C (p.Lys26377Asn)
c.78990G>C (p.Lys26330Asn)
c.105033G>C (p.Lys35011Asn)
c.100431G>C (p.Lys33477Asn)
c.100428G>C (p.Lys33476Asn)
c.97470G>C (p.Lys32490Asn)
c.79086G>C (p.Lys26362Asn)
c.100581G>C (p.Lys33527Asn)
c.100578G>C (p.Lys33526Asn)
c.100011G>C (p.Lys33337Asn)
c.97353G>C (p.Lys32451Asn)
c.97272G>C (p.Lys32424Asn)
c.79035G>C (p.Lys26345Asn)
c.68889G>C (p.Lys22963Asn)
2g.178530475C>TCA430235052TTN,TTN-AS1c.98436G>A (p.Lys32812=)
c.79521G>A (p.Lys26507=)
c.79320G>A (p.Lys26440=)
c.78945G>A (p.Lys26315=)
c.106140G>A (p.Lys35380=)
c.101217G>A (p.Lys33739=)
n.446+6839C>T
n.220-5257C>T
c.105237G>A (p.Lys35079=)
c.79131G>A (p.Lys26377=)
c.78990G>A (p.Lys26330=)
c.105033G>A (p.Lys35011=)
c.100431G>A (p.Lys33477=)
c.100428G>A (p.Lys33476=)
c.97470G>A (p.Lys32490=)
c.79086G>A (p.Lys26362=)
c.100581G>A (p.Lys33527=)
c.100578G>A (p.Lys33526=)
c.100011G>A (p.Lys33337=)
c.97353G>A (p.Lys32451=)
c.97272G>A (p.Lys32424=)
c.79035G>A (p.Lys26345=)
c.68889G>A (p.Lys22963=)
 gnomAD v4
2g.178530476T>ACA349406948TTN,TTN-AS1c.98435A>T (p.Lys32812Met)
c.79520A>T (p.Lys26507Met)
c.79319A>T (p.Lys26440Met)
c.78944A>T (p.Lys26315Met)
c.106139A>T (p.Lys35380Met)
c.101216A>T (p.Lys33739Met)
n.446+6840T>A
n.220-5256T>A
c.105236A>T (p.Lys35079Met)
c.79130A>T (p.Lys26377Met)
c.78989A>T (p.Lys26330Met)
c.105032A>T (p.Lys35011Met)
c.100430A>T (p.Lys33477Met)
c.100427A>T (p.Lys33476Met)
c.97469A>T (p.Lys32490Met)
c.79085A>T (p.Lys26362Met)
c.100580A>T (p.Lys33527Met)
c.100577A>T (p.Lys33526Met)
c.100010A>T (p.Lys33337Met)
c.97352A>T (p.Lys32451Met)
c.97271A>T (p.Lys32424Met)
c.79034A>T (p.Lys26345Met)
c.68888A>T (p.Lys22963Met)
2g.178530476T>CCA349406949TTN,TTN-AS1c.98435A>G (p.Lys32812Arg)
c.79520A>G (p.Lys26507Arg)
c.79319A>G (p.Lys26440Arg)
c.78944A>G (p.Lys26315Arg)
c.106139A>G (p.Lys35380Arg)
c.101216A>G (p.Lys33739Arg)
n.446+6840T>C
n.220-5256T>C
c.105236A>G (p.Lys35079Arg)
c.79130A>G (p.Lys26377Arg)
c.78989A>G (p.Lys26330Arg)
c.105032A>G (p.Lys35011Arg)
c.100430A>G (p.Lys33477Arg)
c.100427A>G (p.Lys33476Arg)
c.97469A>G (p.Lys32490Arg)
c.79085A>G (p.Lys26362Arg)
c.100580A>G (p.Lys33527Arg)
c.100577A>G (p.Lys33526Arg)
c.100010A>G (p.Lys33337Arg)
c.97352A>G (p.Lys32451Arg)
c.97271A>G (p.Lys32424Arg)
c.79034A>G (p.Lys26345Arg)
c.68888A>G (p.Lys22963Arg)
2g.178530476T>GCA349406950TTN,TTN-AS1c.98435A>C (p.Lys32812Thr)
c.79520A>C (p.Lys26507Thr)
c.79319A>C (p.Lys26440Thr)
c.78944A>C (p.Lys26315Thr)
c.106139A>C (p.Lys35380Thr)
c.101216A>C (p.Lys33739Thr)
n.446+6840T>G
n.220-5256T>G
c.105236A>C (p.Lys35079Thr)
c.79130A>C (p.Lys26377Thr)
c.78989A>C (p.Lys26330Thr)
c.105032A>C (p.Lys35011Thr)
c.100430A>C (p.Lys33477Thr)
c.100427A>C (p.Lys33476Thr)
c.97469A>C (p.Lys32490Thr)
c.79085A>C (p.Lys26362Thr)
c.100580A>C (p.Lys33527Thr)
c.100577A>C (p.Lys33526Thr)
c.100010A>C (p.Lys33337Thr)
c.97352A>C (p.Lys32451Thr)
c.97271A>C (p.Lys32424Thr)
c.79034A>C (p.Lys26345Thr)
c.68888A>C (p.Lys22963Thr)
2g.178530476_178530478dupCA2573134091TTN,TTN-AS1c.98433_98435dup (p.Phe32811_Lys32812insAsn)
c.79518_79520dup (p.Phe26506_Lys26507insAsn)
c.79317_79319dup (p.Phe26439_Lys26440insAsn)
c.78942_78944dup (p.Phe26314_Lys26315insAsn)
c.106137_106139dup (p.Phe35379_Lys35380insAsn)
c.101214_101216dup (p.Phe33738_Lys33739insAsn)
n.446+6840_446+6842dup
n.220-5256_220-5254dup
c.105234_105236dup (p.Phe35078_Lys35079insAsn)
c.79128_79130dup (p.Phe26376_Lys26377insAsn)
c.78987_78989dup (p.Phe26329_Lys26330insAsn)
c.105030_105032dup (p.Phe35010_Lys35011insAsn)
c.100428_100430dup (p.Phe33476_Lys33477insAsn)
c.100425_100427dup (p.Phe33475_Lys33476insAsn)
c.97467_97469dup (p.Phe32489_Lys32490insAsn)
c.79083_79085dup (p.Phe26361_Lys26362insAsn)
c.100578_100580dup (p.Phe33526_Lys33527insAsn)
c.100575_100577dup (p.Phe33525_Lys33526insAsn)
c.100008_100010dup (p.Phe33336_Lys33337insAsn)
c.97350_97352dup (p.Phe32450_Lys32451insAsn)
c.97269_97271dup (p.Phe32423_Lys32424insAsn)
c.79032_79034dup (p.Phe26344_Lys26345insAsn)
c.68886_68888dup (p.Phe22962_Lys22963insAsn)
 ClinVar dbSNP
2g.178530477T>ACA349406951TTN,TTN-AS1c.98434A>T (p.Lys32812Ter)
c.79519A>T (p.Lys26507Ter)
c.79318A>T (p.Lys26440Ter)
c.78943A>T (p.Lys26315Ter)
c.106138A>T (p.Lys35380Ter)
c.101215A>T (p.Lys33739Ter)
n.446+6841T>A
n.220-5255T>A
c.105235A>T (p.Lys35079Ter)
c.79129A>T (p.Lys26377Ter)
c.78988A>T (p.Lys26330Ter)
c.105031A>T (p.Lys35011Ter)
c.100429A>T (p.Lys33477Ter)
c.100426A>T (p.Lys33476Ter)
c.97468A>T (p.Lys32490Ter)
c.79084A>T (p.Lys26362Ter)
c.100579A>T (p.Lys33527Ter)
c.100576A>T (p.Lys33526Ter)
c.100009A>T (p.Lys33337Ter)
c.97351A>T (p.Lys32451Ter)
c.97270A>T (p.Lys32424Ter)
c.79033A>T (p.Lys26345Ter)
c.68887A>T (p.Lys22963Ter)
2g.178530477T>CCA349406952TTN,TTN-AS1c.98434A>G (p.Lys32812Glu)
c.79519A>G (p.Lys26507Glu)
c.79318A>G (p.Lys26440Glu)
c.78943A>G (p.Lys26315Glu)
c.106138A>G (p.Lys35380Glu)
c.101215A>G (p.Lys33739Glu)
n.446+6841T>C
n.220-5255T>C
c.105235A>G (p.Lys35079Glu)
c.79129A>G (p.Lys26377Glu)
c.78988A>G (p.Lys26330Glu)
c.105031A>G (p.Lys35011Glu)
c.100429A>G (p.Lys33477Glu)
c.100426A>G (p.Lys33476Glu)
c.97468A>G (p.Lys32490Glu)
c.79084A>G (p.Lys26362Glu)
c.100579A>G (p.Lys33527Glu)
c.100576A>G (p.Lys33526Glu)
c.100009A>G (p.Lys33337Glu)
c.97351A>G (p.Lys32451Glu)
c.97270A>G (p.Lys32424Glu)
c.79033A>G (p.Lys26345Glu)
c.68887A>G (p.Lys22963Glu)
2g.178530477T>GCA349406953TTN,TTN-AS1c.98434A>C (p.Lys32812Gln)
c.79519A>C (p.Lys26507Gln)
c.79318A>C (p.Lys26440Gln)
c.78943A>C (p.Lys26315Gln)
c.106138A>C (p.Lys35380Gln)
c.101215A>C (p.Lys33739Gln)
n.446+6841T>G
n.220-5255T>G
c.105235A>C (p.Lys35079Gln)
c.79129A>C (p.Lys26377Gln)
c.78988A>C (p.Lys26330Gln)
c.105031A>C (p.Lys35011Gln)
c.100429A>C (p.Lys33477Gln)
c.100426A>C (p.Lys33476Gln)
c.97468A>C (p.Lys32490Gln)
c.79084A>C (p.Lys26362Gln)
c.100579A>C (p.Lys33527Gln)
c.100576A>C (p.Lys33526Gln)
c.100009A>C (p.Lys33337Gln)
c.97351A>C (p.Lys32451Gln)
c.97270A>C (p.Lys32424Gln)
c.79033A>C (p.Lys26345Gln)
c.68887A>C (p.Lys22963Gln)
2g.178530477T=CA1310514663TTN,TTN-AS1c.98434A= (p.Lys32812=)
c.79519A= (p.Lys26507=)
c.79318A= (p.Lys26440=)
c.78943A= (p.Lys26315=)
c.106138A= (p.Lys35380=)
c.101215A= (p.Lys33739=)
n.446+6841T=
n.220-5255T=
c.105235A= (p.Lys35079=)
c.79129A= (p.Lys26377=)
c.78988A= (p.Lys26330=)
c.105031A= (p.Lys35011=)
c.100429A= (p.Lys33477=)
c.100426A= (p.Lys33476=)
c.97468A= (p.Lys32490=)
c.79084A= (p.Lys26362=)
c.100579A= (p.Lys33527=)
c.100576A= (p.Lys33526=)
c.100009A= (p.Lys33337=)
c.97351A= (p.Lys32451=)
c.97270A= (p.Lys32424=)
c.79033A= (p.Lys26345=)
c.68887A= (p.Lys22963=)
2g.178530478A>CCA349406954TTN,TTN-AS1c.98433T>G (p.Phe32811Leu)
c.79518T>G (p.Phe26506Leu)
c.79317T>G (p.Phe26439Leu)
c.78942T>G (p.Phe26314Leu)
c.106137T>G (p.Phe35379Leu)
c.101214T>G (p.Phe33738Leu)
n.446+6842A>C
n.220-5254A>C
c.105234T>G (p.Phe35078Leu)
c.79128T>G (p.Phe26376Leu)
c.78987T>G (p.Phe26329Leu)
c.105030T>G (p.Phe35010Leu)
c.100428T>G (p.Phe33476Leu)
c.100425T>G (p.Phe33475Leu)
c.97467T>G (p.Phe32489Leu)
c.79083T>G (p.Phe26361Leu)
c.100578T>G (p.Phe33526Leu)
c.100575T>G (p.Phe33525Leu)
c.100008T>G (p.Phe33336Leu)
c.97350T>G (p.Phe32450Leu)
c.97269T>G (p.Phe32423Leu)
c.79032T>G (p.Phe26344Leu)
c.68886T>G (p.Phe22962Leu)
2g.178530478A>GCA430235058TTN,TTN-AS1c.98433T>C (p.Phe32811=)
c.79518T>C (p.Phe26506=)
c.79317T>C (p.Phe26439=)
c.78942T>C (p.Phe26314=)
c.106137T>C (p.Phe35379=)
c.101214T>C (p.Phe33738=)
n.446+6842A>G
n.220-5254A>G
c.105234T>C (p.Phe35078=)
c.79128T>C (p.Phe26376=)
c.78987T>C (p.Phe26329=)
c.105030T>C (p.Phe35010=)
c.100428T>C (p.Phe33476=)
c.100425T>C (p.Phe33475=)
c.97467T>C (p.Phe32489=)
c.79083T>C (p.Phe26361=)
c.100578T>C (p.Phe33526=)
c.100575T>C (p.Phe33525=)
c.100008T>C (p.Phe33336=)
c.97350T>C (p.Phe32450=)
c.97269T>C (p.Phe32423=)
c.79032T>C (p.Phe26344=)
c.68886T>C (p.Phe22962=)
2g.178530478A>TCA349406955TTN,TTN-AS1c.98433T>A (p.Phe32811Leu)
c.79518T>A (p.Phe26506Leu)
c.79317T>A (p.Phe26439Leu)
c.78942T>A (p.Phe26314Leu)
c.106137T>A (p.Phe35379Leu)
c.101214T>A (p.Phe33738Leu)
n.446+6842A>T
n.220-5254A>T
c.105234T>A (p.Phe35078Leu)
c.79128T>A (p.Phe26376Leu)
c.78987T>A (p.Phe26329Leu)
c.105030T>A (p.Phe35010Leu)
c.100428T>A (p.Phe33476Leu)
c.100425T>A (p.Phe33475Leu)
c.97467T>A (p.Phe32489Leu)
c.79083T>A (p.Phe26361Leu)
c.100578T>A (p.Phe33526Leu)
c.100575T>A (p.Phe33525Leu)
c.100008T>A (p.Phe33336Leu)
c.97350T>A (p.Phe32450Leu)
c.97269T>A (p.Phe32423Leu)
c.79032T>A (p.Phe26344Leu)
c.68886T>A (p.Phe22962Leu)
2g.178530480dupCA10606783TTN,TTN-AS1c.98433dup (p.Lys32812Ter)
c.79518dup (p.Lys26507Ter)
c.79317dup (p.Lys26440Ter)
c.78942dup (p.Lys26315Ter)
c.106137dup (p.Lys35380Ter)
c.101214dup (p.Lys33739Ter)
n.446+6844dup
n.220-5252dup
c.105234dup (p.Lys35079Ter)
c.79128dup (p.Lys26377Ter)
c.78987dup (p.Lys26330Ter)
c.105030dup (p.Lys35011Ter)
c.100428dup (p.Lys33477Ter)
c.100425dup (p.Lys33476Ter)
c.97467dup (p.Lys32490Ter)
c.79083dup (p.Lys26362Ter)
c.100578dup (p.Lys33527Ter)
c.100575dup (p.Lys33526Ter)
c.100008dup (p.Lys33337Ter)
c.97350dup (p.Lys32451Ter)
c.97269dup (p.Lys32424Ter)
c.79032dup (p.Lys26345Ter)
c.68886dup (p.Lys22963Ter)
 ClinVar dbSNP
2g.178530479A>CCA349406956TTN,TTN-AS1c.98432T>G (p.Phe32811Cys)
c.79517T>G (p.Phe26506Cys)
c.79316T>G (p.Phe26439Cys)
c.78941T>G (p.Phe26314Cys)
c.106136T>G (p.Phe35379Cys)
c.101213T>G (p.Phe33738Cys)
n.446+6843A>C
n.220-5253A>C
c.105233T>G (p.Phe35078Cys)
c.79127T>G (p.Phe26376Cys)
c.78986T>G (p.Phe26329Cys)
c.105029T>G (p.Phe35010Cys)
c.100427T>G (p.Phe33476Cys)
c.100424T>G (p.Phe33475Cys)
c.97466T>G (p.Phe32489Cys)
c.79082T>G (p.Phe26361Cys)
c.100577T>G (p.Phe33526Cys)
c.100574T>G (p.Phe33525Cys)
c.100007T>G (p.Phe33336Cys)
c.97349T>G (p.Phe32450Cys)
c.97268T>G (p.Phe32423Cys)
c.79031T>G (p.Phe26344Cys)
c.68885T>G (p.Phe22962Cys)
2g.178530479A>GCA349406957TTN,TTN-AS1c.98432T>C (p.Phe32811Ser)
c.79517T>C (p.Phe26506Ser)
c.79316T>C (p.Phe26439Ser)
c.78941T>C (p.Phe26314Ser)
c.106136T>C (p.Phe35379Ser)
c.101213T>C (p.Phe33738Ser)
n.446+6843A>G
n.220-5253A>G
c.105233T>C (p.Phe35078Ser)
c.79127T>C (p.Phe26376Ser)
c.78986T>C (p.Phe26329Ser)
c.105029T>C (p.Phe35010Ser)
c.100427T>C (p.Phe33476Ser)
c.100424T>C (p.Phe33475Ser)
c.97466T>C (p.Phe32489Ser)
c.79082T>C (p.Phe26361Ser)
c.100577T>C (p.Phe33526Ser)
c.100574T>C (p.Phe33525Ser)
c.100007T>C (p.Phe33336Ser)
c.97349T>C (p.Phe32450Ser)
c.97268T>C (p.Phe32423Ser)
c.79031T>C (p.Phe26344Ser)
c.68885T>C (p.Phe22962Ser)
2g.178530479A>TCA349406958TTN,TTN-AS1c.98432T>A (p.Phe32811Tyr)
c.79517T>A (p.Phe26506Tyr)
c.79316T>A (p.Phe26439Tyr)
c.78941T>A (p.Phe26314Tyr)
c.106136T>A (p.Phe35379Tyr)
c.101213T>A (p.Phe33738Tyr)
n.446+6843A>T
n.220-5253A>T
c.105233T>A (p.Phe35078Tyr)
c.79127T>A (p.Phe26376Tyr)
c.78986T>A (p.Phe26329Tyr)
c.105029T>A (p.Phe35010Tyr)
c.100427T>A (p.Phe33476Tyr)
c.100424T>A (p.Phe33475Tyr)
c.97466T>A (p.Phe32489Tyr)
c.79082T>A (p.Phe26361Tyr)
c.100577T>A (p.Phe33526Tyr)
c.100574T>A (p.Phe33525Tyr)
c.100007T>A (p.Phe33336Tyr)
c.97349T>A (p.Phe32450Tyr)
c.97268T>A (p.Phe32423Tyr)
c.79031T>A (p.Phe26344Tyr)
c.68885T>A (p.Phe22962Tyr)
2g.178530480A>CCA349406960TTN,TTN-AS1c.98431T>G (p.Phe32811Val)
c.79516T>G (p.Phe26506Val)
c.79315T>G (p.Phe26439Val)
c.78940T>G (p.Phe26314Val)
c.106135T>G (p.Phe35379Val)
c.101212T>G (p.Phe33738Val)
n.446+6844A>C
n.220-5252A>C
c.105232T>G (p.Phe35078Val)
c.79126T>G (p.Phe26376Val)
c.78985T>G (p.Phe26329Val)
c.105028T>G (p.Phe35010Val)
c.100426T>G (p.Phe33476Val)
c.100423T>G (p.Phe33475Val)
c.97465T>G (p.Phe32489Val)
c.79081T>G (p.Phe26361Val)
c.100576T>G (p.Phe33526Val)
c.100573T>G (p.Phe33525Val)
c.100006T>G (p.Phe33336Val)
c.97348T>G (p.Phe32450Val)
c.97267T>G (p.Phe32423Val)
c.79030T>G (p.Phe26344Val)
c.68884T>G (p.Phe22962Val)
2g.178530480A>GCA349406961TTN,TTN-AS1c.98431T>C (p.Phe32811Leu)
c.79516T>C (p.Phe26506Leu)
c.79315T>C (p.Phe26439Leu)
c.78940T>C (p.Phe26314Leu)
c.106135T>C (p.Phe35379Leu)
c.101212T>C (p.Phe33738Leu)
n.446+6844A>G
n.220-5252A>G
c.105232T>C (p.Phe35078Leu)
c.79126T>C (p.Phe26376Leu)
c.78985T>C (p.Phe26329Leu)
c.105028T>C (p.Phe35010Leu)
c.100426T>C (p.Phe33476Leu)
c.100423T>C (p.Phe33475Leu)
c.97465T>C (p.Phe32489Leu)
c.79081T>C (p.Phe26361Leu)
c.100576T>C (p.Phe33526Leu)
c.100573T>C (p.Phe33525Leu)
c.100006T>C (p.Phe33336Leu)
c.97348T>C (p.Phe32450Leu)
c.97267T>C (p.Phe32423Leu)
c.79030T>C (p.Phe26344Leu)
c.68884T>C (p.Phe22962Leu)
2g.178530480A>TCA349406959TTN,TTN-AS1c.98431T>A (p.Phe32811Ile)
c.79516T>A (p.Phe26506Ile)
c.79315T>A (p.Phe26439Ile)
c.78940T>A (p.Phe26314Ile)
c.106135T>A (p.Phe35379Ile)
c.101212T>A (p.Phe33738Ile)
n.446+6844A>T
n.220-5252A>T
c.105232T>A (p.Phe35078Ile)
c.79126T>A (p.Phe26376Ile)
c.78985T>A (p.Phe26329Ile)
c.105028T>A (p.Phe35010Ile)
c.100426T>A (p.Phe33476Ile)
c.100423T>A (p.Phe33475Ile)
c.97465T>A (p.Phe32489Ile)
c.79081T>A (p.Phe26361Ile)
c.100576T>A (p.Phe33526Ile)
c.100573T>A (p.Phe33525Ile)
c.100006T>A (p.Phe33336Ile)
c.97348T>A (p.Phe32450Ile)
c.97267T>A (p.Phe32423Ile)
c.79030T>A (p.Phe26344Ile)
c.68884T>A (p.Phe22962Ile)
2g.178530481G>ACA430235061TTN,TTN-AS1c.98430C>T (p.Ala32810=)
c.79515C>T (p.Ala26505=)
c.79314C>T (p.Ala26438=)
c.78939C>T (p.Ala26313=)
c.106134C>T (p.Ala35378=)
c.101211C>T (p.Ala33737=)
n.446+6845G>A
n.220-5251G>A
c.105231C>T (p.Ala35077=)
c.79125C>T (p.Ala26375=)
c.78984C>T (p.Ala26328=)
c.105027C>T (p.Ala35009=)
c.100425C>T (p.Ala33475=)
c.100422C>T (p.Ala33474=)
c.97464C>T (p.Ala32488=)
c.79080C>T (p.Ala26360=)
c.100575C>T (p.Ala33525=)
c.100572C>T (p.Ala33524=)
c.100005C>T (p.Ala33335=)
c.97347C>T (p.Ala32449=)
c.97266C>T (p.Ala32422=)
c.79029C>T (p.Ala26343=)
c.68883C>T (p.Ala22961=)
2g.178530481G>CCA430235063TTN,TTN-AS1c.98430C>G (p.Ala32810=)
c.79515C>G (p.Ala26505=)
c.79314C>G (p.Ala26438=)
c.78939C>G (p.Ala26313=)
c.106134C>G (p.Ala35378=)
c.101211C>G (p.Ala33737=)
n.446+6845G>C
n.220-5251G>C
c.105231C>G (p.Ala35077=)
c.79125C>G (p.Ala26375=)
c.78984C>G (p.Ala26328=)
c.105027C>G (p.Ala35009=)
c.100425C>G (p.Ala33475=)
c.100422C>G (p.Ala33474=)
c.97464C>G (p.Ala32488=)
c.79080C>G (p.Ala26360=)
c.100575C>G (p.Ala33525=)
c.100572C>G (p.Ala33524=)
c.100005C>G (p.Ala33335=)
c.97347C>G (p.Ala32449=)
c.97266C>G (p.Ala32422=)
c.79029C>G (p.Ala26343=)
c.68883C>G (p.Ala22961=)
2g.178530481G=CA1310514666TTN,TTN-AS1c.98430C= (p.Ala32810=)
c.79515C= (p.Ala26505=)
c.79314C= (p.Ala26438=)
c.78939C= (p.Ala26313=)
c.106134C= (p.Ala35378=)
c.101211C= (p.Ala33737=)
n.446+6845G=
n.220-5251G=
c.105231C= (p.Ala35077=)
c.79125C= (p.Ala26375=)
c.78984C= (p.Ala26328=)
c.105027C= (p.Ala35009=)
c.100425C= (p.Ala33475=)
c.100422C= (p.Ala33474=)
c.97464C= (p.Ala32488=)
c.79080C= (p.Ala26360=)
c.100575C= (p.Ala33525=)
c.100572C= (p.Ala33524=)
c.100005C= (p.Ala33335=)
c.97347C= (p.Ala32449=)
c.97266C= (p.Ala32422=)
c.79029C= (p.Ala26343=)
c.68883C= (p.Ala22961=)
2g.178530481G>TCA1985158TTN,TTN-AS1c.98430C>A (p.Ala32810=)
c.79515C>A (p.Ala26505=)
c.79314C>A (p.Ala26438=)
c.78939C>A (p.Ala26313=)
c.106134C>A (p.Ala35378=)
c.101211C>A (p.Ala33737=)
n.446+6845G>T
n.220-5251G>T
c.105231C>A (p.Ala35077=)
c.79125C>A (p.Ala26375=)
c.78984C>A (p.Ala26328=)
c.105027C>A (p.Ala35009=)
c.100425C>A (p.Ala33475=)
c.100422C>A (p.Ala33474=)
c.97464C>A (p.Ala32488=)
c.79080C>A (p.Ala26360=)
c.100575C>A (p.Ala33525=)
c.100572C>A (p.Ala33524=)
c.100005C>A (p.Ala33335=)
c.97347C>A (p.Ala32449=)
c.97266C>A (p.Ala32422=)
c.79029C>A (p.Ala26343=)
c.68883C>A (p.Ala22961=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530482G>ACA1985159TTN,TTN-AS1c.98429C>T (p.Ala32810Val)
c.79514C>T (p.Ala26505Val)
c.79313C>T (p.Ala26438Val)
c.78938C>T (p.Ala26313Val)
c.106133C>T (p.Ala35378Val)
c.101210C>T (p.Ala33737Val)
n.446+6846G>A
n.220-5250G>A
c.105230C>T (p.Ala35077Val)
c.79124C>T (p.Ala26375Val)
c.78983C>T (p.Ala26328Val)
c.105026C>T (p.Ala35009Val)
c.100424C>T (p.Ala33475Val)
c.100421C>T (p.Ala33474Val)
c.97463C>T (p.Ala32488Val)
c.79079C>T (p.Ala26360Val)
c.100574C>T (p.Ala33525Val)
c.100571C>T (p.Ala33524Val)
c.100004C>T (p.Ala33335Val)
c.97346C>T (p.Ala32449Val)
c.97265C>T (p.Ala32422Val)
c.79028C>T (p.Ala26343Val)
c.68882C>T (p.Ala22961Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530482G>CCA311252TTN,TTN-AS1c.98429C>G (p.Ala32810Gly)
c.79514C>G (p.Ala26505Gly)
c.79313C>G (p.Ala26438Gly)
c.78938C>G (p.Ala26313Gly)
c.106133C>G (p.Ala35378Gly)
c.101210C>G (p.Ala33737Gly)
n.446+6846G>C
n.220-5250G>C
c.105230C>G (p.Ala35077Gly)
c.79124C>G (p.Ala26375Gly)
c.78983C>G (p.Ala26328Gly)
c.105026C>G (p.Ala35009Gly)
c.100424C>G (p.Ala33475Gly)
c.100421C>G (p.Ala33474Gly)
c.97463C>G (p.Ala32488Gly)
c.79079C>G (p.Ala26360Gly)
c.100574C>G (p.Ala33525Gly)
c.100571C>G (p.Ala33524Gly)
c.100004C>G (p.Ala33335Gly)
c.97346C>G (p.Ala32449Gly)
c.97265C>G (p.Ala32422Gly)
c.79028C>G (p.Ala26343Gly)
c.68882C>G (p.Ala22961Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530482G=CA1310514670TTN,TTN-AS1c.98429C= (p.Ala32810=)
c.79514C= (p.Ala26505=)
c.79313C= (p.Ala26438=)
c.78938C= (p.Ala26313=)
c.106133C= (p.Ala35378=)
c.101210C= (p.Ala33737=)
n.446+6846G=
n.220-5250G=
c.105230C= (p.Ala35077=)
c.79124C= (p.Ala26375=)
c.78983C= (p.Ala26328=)
c.105026C= (p.Ala35009=)
c.100424C= (p.Ala33475=)
c.100421C= (p.Ala33474=)
c.97463C= (p.Ala32488=)
c.79079C= (p.Ala26360=)
c.100574C= (p.Ala33525=)
c.100571C= (p.Ala33524=)
c.100004C= (p.Ala33335=)
c.97346C= (p.Ala32449=)
c.97265C= (p.Ala32422=)
c.79028C= (p.Ala26343=)
c.68882C= (p.Ala22961=)
2g.178530482G>TCA349406962TTN,TTN-AS1c.98429C>A (p.Ala32810Asp)
c.79514C>A (p.Ala26505Asp)
c.79313C>A (p.Ala26438Asp)
c.78938C>A (p.Ala26313Asp)
c.106133C>A (p.Ala35378Asp)
c.101210C>A (p.Ala33737Asp)
n.446+6846G>T
n.220-5250G>T
c.105230C>A (p.Ala35077Asp)
c.79124C>A (p.Ala26375Asp)
c.78983C>A (p.Ala26328Asp)
c.105026C>A (p.Ala35009Asp)
c.100424C>A (p.Ala33475Asp)
c.100421C>A (p.Ala33474Asp)
c.97463C>A (p.Ala32488Asp)
c.79079C>A (p.Ala26360Asp)
c.100574C>A (p.Ala33525Asp)
c.100571C>A (p.Ala33524Asp)
c.100004C>A (p.Ala33335Asp)
c.97346C>A (p.Ala32449Asp)
c.97265C>A (p.Ala32422Asp)
c.79028C>A (p.Ala26343Asp)
c.68882C>A (p.Ala22961Asp)
 gnomAD v4
2g.178530482_178530483insTCTCTTTCA538434967TTN,TTN-AS1c.98428_98429insAAAGAGA (p.Ala32810GlufsTer5)
c.79513_79514insAAAGAGA (p.Ala26505GlufsTer5)
c.79312_79313insAAAGAGA (p.Ala26438GlufsTer5)
c.78937_78938insAAAGAGA (p.Ala26313GlufsTer5)
c.106132_106133insAAAGAGA (p.Ala35378GlufsTer5)
c.101209_101210insAAAGAGA (p.Ala33737GlufsTer5)
n.446+6846_446+6847insTCTCTTT
n.220-5250_220-5249insTCTCTTT
c.105229_105230insAAAGAGA (p.Ala35077GlufsTer5)
c.79123_79124insAAAGAGA (p.Ala26375GlufsTer5)
c.78982_78983insAAAGAGA (p.Ala26328GlufsTer5)
c.105025_105026insAAAGAGA (p.Ala35009GlufsTer5)
c.100423_100424insAAAGAGA (p.Ala33475GlufsTer5)
c.100420_100421insAAAGAGA (p.Ala33474GlufsTer5)
c.97462_97463insAAAGAGA (p.Ala32488GlufsTer5)
c.79078_79079insAAAGAGA (p.Ala26360GlufsTer5)
c.100573_100574insAAAGAGA (p.Ala33525GlufsTer5)
c.100570_100571insAAAGAGA (p.Ala33524GlufsTer5)
c.100003_100004insAAAGAGA (p.Ala33335GlufsTer5)
c.97345_97346insAAAGAGA (p.Ala32449GlufsTer5)
c.97264_97265insAAAGAGA (p.Ala32422GlufsTer5)
c.79027_79028insAAAGAGA (p.Ala26343GlufsTer5)
c.68881_68882insAAAGAGA (p.Ala22961GlufsTer5)
 gnomAD v2
2g.178530483C>ACA349406963TTN,TTN-AS1c.98428G>T (p.Ala32810Ser)
c.79513G>T (p.Ala26505Ser)
c.79312G>T (p.Ala26438Ser)
c.78937G>T (p.Ala26313Ser)
c.106132G>T (p.Ala35378Ser)
c.101209G>T (p.Ala33737Ser)
n.446+6847C>A
n.220-5249C>A
c.105229G>T (p.Ala35077Ser)
c.79123G>T (p.Ala26375Ser)
c.78982G>T (p.Ala26328Ser)
c.105025G>T (p.Ala35009Ser)
c.100423G>T (p.Ala33475Ser)
c.100420G>T (p.Ala33474Ser)
c.97462G>T (p.Ala32488Ser)
c.79078G>T (p.Ala26360Ser)
c.100573G>T (p.Ala33525Ser)
c.100570G>T (p.Ala33524Ser)
c.100003G>T (p.Ala33335Ser)
c.97345G>T (p.Ala32449Ser)
c.97264G>T (p.Ala32422Ser)
c.79027G>T (p.Ala26343Ser)
c.68881G>T (p.Ala22961Ser)
2g.178530483C>GCA349406964TTN,TTN-AS1c.98428G>C (p.Ala32810Pro)
c.79513G>C (p.Ala26505Pro)
c.79312G>C (p.Ala26438Pro)
c.78937G>C (p.Ala26313Pro)
c.106132G>C (p.Ala35378Pro)
c.101209G>C (p.Ala33737Pro)
n.446+6847C>G
n.220-5249C>G
c.105229G>C (p.Ala35077Pro)
c.79123G>C (p.Ala26375Pro)
c.78982G>C (p.Ala26328Pro)
c.105025G>C (p.Ala35009Pro)
c.100423G>C (p.Ala33475Pro)
c.100420G>C (p.Ala33474Pro)
c.97462G>C (p.Ala32488Pro)
c.79078G>C (p.Ala26360Pro)
c.100573G>C (p.Ala33525Pro)
c.100570G>C (p.Ala33524Pro)
c.100003G>C (p.Ala33335Pro)
c.97345G>C (p.Ala32449Pro)
c.97264G>C (p.Ala32422Pro)
c.79027G>C (p.Ala26343Pro)
c.68881G>C (p.Ala22961Pro)
2g.178530483C>TCA349406965TTN,TTN-AS1c.98428G>A (p.Ala32810Thr)
c.79513G>A (p.Ala26505Thr)
c.79312G>A (p.Ala26438Thr)
c.78937G>A (p.Ala26313Thr)
c.106132G>A (p.Ala35378Thr)
c.101209G>A (p.Ala33737Thr)
n.446+6847C>T
n.220-5249C>T
c.105229G>A (p.Ala35077Thr)
c.79123G>A (p.Ala26375Thr)
c.78982G>A (p.Ala26328Thr)
c.105025G>A (p.Ala35009Thr)
c.100423G>A (p.Ala33475Thr)
c.100420G>A (p.Ala33474Thr)
c.97462G>A (p.Ala32488Thr)
c.79078G>A (p.Ala26360Thr)
c.100573G>A (p.Ala33525Thr)
c.100570G>A (p.Ala33524Thr)
c.100003G>A (p.Ala33335Thr)
c.97345G>A (p.Ala32449Thr)
c.97264G>A (p.Ala32422Thr)
c.79027G>A (p.Ala26343Thr)
c.68881G>A (p.Ala22961Thr)
 gnomAD v4
2g.178530484T>ACA349406966TTN,TTN-AS1c.98427A>T (p.Gln32809His)
c.79512A>T (p.Gln26504His)
c.79311A>T (p.Gln26437His)
c.78936A>T (p.Gln26312His)
c.106131A>T (p.Gln35377His)
c.101208A>T (p.Gln33736His)
n.446+6848T>A
n.220-5248T>A
c.105228A>T (p.Gln35076His)
c.79122A>T (p.Gln26374His)
c.78981A>T (p.Gln26327His)
c.105024A>T (p.Gln35008His)
c.100422A>T (p.Gln33474His)
c.100419A>T (p.Gln33473His)
c.97461A>T (p.Gln32487His)
c.79077A>T (p.Gln26359His)
c.100572A>T (p.Gln33524His)
c.100569A>T (p.Gln33523His)
c.100002A>T (p.Gln33334His)
c.97344A>T (p.Gln32448His)
c.97263A>T (p.Gln32421His)
c.79026A>T (p.Gln26342His)
c.68880A>T (p.Gln22960His)
 dbSNP gnomAD v2
2g.178530484T>CCA430235070TTN,TTN-AS1c.98427A>G (p.Gln32809=)
c.79512A>G (p.Gln26504=)
c.79311A>G (p.Gln26437=)
c.78936A>G (p.Gln26312=)
c.106131A>G (p.Gln35377=)
c.101208A>G (p.Gln33736=)
n.446+6848T>C
n.220-5248T>C
c.105228A>G (p.Gln35076=)
c.79122A>G (p.Gln26374=)
c.78981A>G (p.Gln26327=)
c.105024A>G (p.Gln35008=)
c.100422A>G (p.Gln33474=)
c.100419A>G (p.Gln33473=)
c.97461A>G (p.Gln32487=)
c.79077A>G (p.Gln26359=)
c.100572A>G (p.Gln33524=)
c.100569A>G (p.Gln33523=)
c.100002A>G (p.Gln33334=)
c.97344A>G (p.Gln32448=)
c.97263A>G (p.Gln32421=)
c.79026A>G (p.Gln26342=)
c.68880A>G (p.Gln22960=)
2g.178530484T>GCA349406967TTN,TTN-AS1c.98427A>C (p.Gln32809His)
c.79512A>C (p.Gln26504His)
c.79311A>C (p.Gln26437His)
c.78936A>C (p.Gln26312His)
c.106131A>C (p.Gln35377His)
c.101208A>C (p.Gln33736His)
n.446+6848T>G
n.220-5248T>G
c.105228A>C (p.Gln35076His)
c.79122A>C (p.Gln26374His)
c.78981A>C (p.Gln26327His)
c.105024A>C (p.Gln35008His)
c.100422A>C (p.Gln33474His)
c.100419A>C (p.Gln33473His)
c.97461A>C (p.Gln32487His)
c.79077A>C (p.Gln26359His)
c.100572A>C (p.Gln33524His)
c.100569A>C (p.Gln33523His)
c.100002A>C (p.Gln33334His)
c.97344A>C (p.Gln32448His)
c.97263A>C (p.Gln32421His)
c.79026A>C (p.Gln26342His)
c.68880A>C (p.Gln22960His)
2g.178530484T=CA1310514674TTN,TTN-AS1c.98427A= (p.Gln32809=)
c.79512A= (p.Gln26504=)
c.79311A= (p.Gln26437=)
c.78936A= (p.Gln26312=)
c.106131A= (p.Gln35377=)
c.101208A= (p.Gln33736=)
n.446+6848T=
n.220-5248T=
c.105228A= (p.Gln35076=)
c.79122A= (p.Gln26374=)
c.78981A= (p.Gln26327=)
c.105024A= (p.Gln35008=)
c.100422A= (p.Gln33474=)
c.100419A= (p.Gln33473=)
c.97461A= (p.Gln32487=)
c.79077A= (p.Gln26359=)
c.100572A= (p.Gln33524=)
c.100569A= (p.Gln33523=)
c.100002A= (p.Gln33334=)
c.97344A= (p.Gln32448=)
c.97263A= (p.Gln32421=)
c.79026A= (p.Gln26342=)
c.68880A= (p.Gln22960=)
2g.178530485T>ACA349406968TTN,TTN-AS1c.98426A>T (p.Gln32809Leu)
c.79511A>T (p.Gln26504Leu)
c.79310A>T (p.Gln26437Leu)
c.78935A>T (p.Gln26312Leu)
c.106130A>T (p.Gln35377Leu)
c.101207A>T (p.Gln33736Leu)
n.446+6849T>A
n.220-5247T>A
c.105227A>T (p.Gln35076Leu)
c.79121A>T (p.Gln26374Leu)
c.78980A>T (p.Gln26327Leu)
c.105023A>T (p.Gln35008Leu)
c.100421A>T (p.Gln33474Leu)
c.100418A>T (p.Gln33473Leu)
c.97460A>T (p.Gln32487Leu)
c.79076A>T (p.Gln26359Leu)
c.100571A>T (p.Gln33524Leu)
c.100568A>T (p.Gln33523Leu)
c.100001A>T (p.Gln33334Leu)
c.97343A>T (p.Gln32448Leu)
c.97262A>T (p.Gln32421Leu)
c.79025A>T (p.Gln26342Leu)
c.68879A>T (p.Gln22960Leu)
2g.178530485T>CCA349406969TTN,TTN-AS1c.98426A>G (p.Gln32809Arg)
c.79511A>G (p.Gln26504Arg)
c.79310A>G (p.Gln26437Arg)
c.78935A>G (p.Gln26312Arg)
c.106130A>G (p.Gln35377Arg)
c.101207A>G (p.Gln33736Arg)
n.446+6849T>C
n.220-5247T>C
c.105227A>G (p.Gln35076Arg)
c.79121A>G (p.Gln26374Arg)
c.78980A>G (p.Gln26327Arg)
c.105023A>G (p.Gln35008Arg)
c.100421A>G (p.Gln33474Arg)
c.100418A>G (p.Gln33473Arg)
c.97460A>G (p.Gln32487Arg)
c.79076A>G (p.Gln26359Arg)
c.100571A>G (p.Gln33524Arg)
c.100568A>G (p.Gln33523Arg)
c.100001A>G (p.Gln33334Arg)
c.97343A>G (p.Gln32448Arg)
c.97262A>G (p.Gln32421Arg)
c.79025A>G (p.Gln26342Arg)
c.68879A>G (p.Gln22960Arg)
2g.178530485T>GCA349406970TTN,TTN-AS1c.98426A>C (p.Gln32809Pro)
c.79511A>C (p.Gln26504Pro)
c.79310A>C (p.Gln26437Pro)
c.78935A>C (p.Gln26312Pro)
c.106130A>C (p.Gln35377Pro)
c.101207A>C (p.Gln33736Pro)
n.446+6849T>G
n.220-5247T>G
c.105227A>C (p.Gln35076Pro)
c.79121A>C (p.Gln26374Pro)
c.78980A>C (p.Gln26327Pro)
c.105023A>C (p.Gln35008Pro)
c.100421A>C (p.Gln33474Pro)
c.100418A>C (p.Gln33473Pro)
c.97460A>C (p.Gln32487Pro)
c.79076A>C (p.Gln26359Pro)
c.100571A>C (p.Gln33524Pro)
c.100568A>C (p.Gln33523Pro)
c.100001A>C (p.Gln33334Pro)
c.97343A>C (p.Gln32448Pro)
c.97262A>C (p.Gln32421Pro)
c.79025A>C (p.Gln26342Pro)
c.68879A>C (p.Gln22960Pro)
2g.178530486G>ACA349406971TTN,TTN-AS1c.98425C>T (p.Gln32809Ter)
c.79510C>T (p.Gln26504Ter)
c.79309C>T (p.Gln26437Ter)
c.78934C>T (p.Gln26312Ter)
c.106129C>T (p.Gln35377Ter)
c.101206C>T (p.Gln33736Ter)
n.446+6850G>A
n.220-5246G>A
c.105226C>T (p.Gln35076Ter)
c.79120C>T (p.Gln26374Ter)
c.78979C>T (p.Gln26327Ter)
c.105022C>T (p.Gln35008Ter)
c.100420C>T (p.Gln33474Ter)
c.100417C>T (p.Gln33473Ter)
c.97459C>T (p.Gln32487Ter)
c.79075C>T (p.Gln26359Ter)
c.100570C>T (p.Gln33524Ter)
c.100567C>T (p.Gln33523Ter)
c.100000C>T (p.Gln33334Ter)
c.97342C>T (p.Gln32448Ter)
c.97261C>T (p.Gln32421Ter)
c.79024C>T (p.Gln26342Ter)
c.68878C>T (p.Gln22960Ter)
2g.178530486G>CCA349406972TTN,TTN-AS1c.98425C>G (p.Gln32809Glu)
c.79510C>G (p.Gln26504Glu)
c.79309C>G (p.Gln26437Glu)
c.78934C>G (p.Gln26312Glu)
c.106129C>G (p.Gln35377Glu)
c.101206C>G (p.Gln33736Glu)
n.446+6850G>C
n.220-5246G>C
c.105226C>G (p.Gln35076Glu)
c.79120C>G (p.Gln26374Glu)
c.78979C>G (p.Gln26327Glu)
c.105022C>G (p.Gln35008Glu)
c.100420C>G (p.Gln33474Glu)
c.100417C>G (p.Gln33473Glu)
c.97459C>G (p.Gln32487Glu)
c.79075C>G (p.Gln26359Glu)
c.100570C>G (p.Gln33524Glu)
c.100567C>G (p.Gln33523Glu)
c.100000C>G (p.Gln33334Glu)
c.97342C>G (p.Gln32448Glu)
c.97261C>G (p.Gln32421Glu)
c.79024C>G (p.Gln26342Glu)
c.68878C>G (p.Gln22960Glu)
2g.178530486G=CA1310514676TTN,TTN-AS1c.98425C= (p.Gln32809=)
c.79510C= (p.Gln26504=)
c.79309C= (p.Gln26437=)
c.78934C= (p.Gln26312=)
c.106129C= (p.Gln35377=)
c.101206C= (p.Gln33736=)
n.446+6850G=
n.220-5246G=
c.105226C= (p.Gln35076=)
c.79120C= (p.Gln26374=)
c.78979C= (p.Gln26327=)
c.105022C= (p.Gln35008=)
c.100420C= (p.Gln33474=)
c.100417C= (p.Gln33473=)
c.97459C= (p.Gln32487=)
c.79075C= (p.Gln26359=)
c.100570C= (p.Gln33524=)
c.100567C= (p.Gln33523=)
c.100000C= (p.Gln33334=)
c.97342C= (p.Gln32448=)
c.97261C= (p.Gln32421=)
c.79024C= (p.Gln26342=)
c.68878C= (p.Gln22960=)
2g.178530486G>TCA1985160TTN,TTN-AS1c.98425C>A (p.Gln32809Lys)
c.79510C>A (p.Gln26504Lys)
c.79309C>A (p.Gln26437Lys)
c.78934C>A (p.Gln26312Lys)
c.106129C>A (p.Gln35377Lys)
c.101206C>A (p.Gln33736Lys)
n.446+6850G>T
n.220-5246G>T
c.105226C>A (p.Gln35076Lys)
c.79120C>A (p.Gln26374Lys)
c.78979C>A (p.Gln26327Lys)
c.105022C>A (p.Gln35008Lys)
c.100420C>A (p.Gln33474Lys)
c.100417C>A (p.Gln33473Lys)
c.97459C>A (p.Gln32487Lys)
c.79075C>A (p.Gln26359Lys)
c.100570C>A (p.Gln33524Lys)
c.100567C>A (p.Gln33523Lys)
c.100000C>A (p.Gln33334Lys)
c.97342C>A (p.Gln32448Lys)
c.97261C>A (p.Gln32421Lys)
c.79024C>A (p.Gln26342Lys)
c.68878C>A (p.Gln22960Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530487C>ACA1985161TTN,TTN-AS1c.98424G>T (p.Gly32808=)
c.79509G>T (p.Gly26503=)
c.79308G>T (p.Gly26436=)
c.78933G>T (p.Gly26311=)
c.106128G>T (p.Gly35376=)
c.101205G>T (p.Gly33735=)
n.446+6851C>A
n.220-5245C>A
c.105225G>T (p.Gly35075=)
c.79119G>T (p.Gly26373=)
c.78978G>T (p.Gly26326=)
c.105021G>T (p.Gly35007=)
c.100419G>T (p.Gly33473=)
c.100416G>T (p.Gly33472=)
c.97458G>T (p.Gly32486=)
c.79074G>T (p.Gly26358=)
c.100569G>T (p.Gly33523=)
c.100566G>T (p.Gly33522=)
c.99999G>T (p.Gly33333=)
c.97341G>T (p.Gly32447=)
c.97260G>T (p.Gly32420=)
c.79023G>T (p.Gly26341=)
c.68877G>T (p.Gly22959=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530487C=CA1310514678TTN,TTN-AS1c.98424G= (p.Gly32808=)
c.79509G= (p.Gly26503=)
c.79308G= (p.Gly26436=)
c.78933G= (p.Gly26311=)
c.106128G= (p.Gly35376=)
c.101205G= (p.Gly33735=)
n.446+6851C=
n.220-5245C=
c.105225G= (p.Gly35075=)
c.79119G= (p.Gly26373=)
c.78978G= (p.Gly26326=)
c.105021G= (p.Gly35007=)
c.100419G= (p.Gly33473=)
c.100416G= (p.Gly33472=)
c.97458G= (p.Gly32486=)
c.79074G= (p.Gly26358=)
c.100569G= (p.Gly33523=)
c.100566G= (p.Gly33522=)
c.99999G= (p.Gly33333=)
c.97341G= (p.Gly32447=)
c.97260G= (p.Gly32420=)
c.79023G= (p.Gly26341=)
c.68877G= (p.Gly22959=)
2g.178530487C>GCA430235075TTN,TTN-AS1c.98424G>C (p.Gly32808=)
c.79509G>C (p.Gly26503=)
c.79308G>C (p.Gly26436=)
c.78933G>C (p.Gly26311=)
c.106128G>C (p.Gly35376=)
c.101205G>C (p.Gly33735=)
n.446+6851C>G
n.220-5245C>G
c.105225G>C (p.Gly35075=)
c.79119G>C (p.Gly26373=)
c.78978G>C (p.Gly26326=)
c.105021G>C (p.Gly35007=)
c.100419G>C (p.Gly33473=)
c.100416G>C (p.Gly33472=)
c.97458G>C (p.Gly32486=)
c.79074G>C (p.Gly26358=)
c.100569G>C (p.Gly33523=)
c.100566G>C (p.Gly33522=)
c.99999G>C (p.Gly33333=)
c.97341G>C (p.Gly32447=)
c.97260G>C (p.Gly32420=)
c.79023G>C (p.Gly26341=)
c.68877G>C (p.Gly22959=)
2g.178530487C>TCA430235077TTN,TTN-AS1c.98424G>A (p.Gly32808=)
c.79509G>A (p.Gly26503=)
c.79308G>A (p.Gly26436=)
c.78933G>A (p.Gly26311=)
c.106128G>A (p.Gly35376=)
c.101205G>A (p.Gly33735=)
n.446+6851C>T
n.220-5245C>T
c.105225G>A (p.Gly35075=)
c.79119G>A (p.Gly26373=)
c.78978G>A (p.Gly26326=)
c.105021G>A (p.Gly35007=)
c.100419G>A (p.Gly33473=)
c.100416G>A (p.Gly33472=)
c.97458G>A (p.Gly32486=)
c.79074G>A (p.Gly26358=)
c.100569G>A (p.Gly33523=)
c.100566G>A (p.Gly33522=)
c.99999G>A (p.Gly33333=)
c.97341G>A (p.Gly32447=)
c.97260G>A (p.Gly32420=)
c.79023G>A (p.Gly26341=)
c.68877G>A (p.Gly22959=)
2g.178530487_178530488insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTGCA2573051719TTN,TTN-AS1c.98423_98424insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32809ThrfsTer10)
c.79508_79509insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26504ThrfsTer10)
c.79307_79308insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26437ThrfsTer10)
c.78932_78933insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26312ThrfsTer10)
c.106127_106128insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35377ThrfsTer10)
c.101204_101205insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33736ThrfsTer10)
n.446+6851_446+6852insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG
n.220-5245_220-5244insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG
c.105224_105225insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35076ThrfsTer10)
c.79118_79119insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26374ThrfsTer10)
c.78977_78978insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26327ThrfsTer10)
c.105020_105021insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35008ThrfsTer10)
c.100418_100419insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33474ThrfsTer10)
c.100415_100416insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33473ThrfsTer10)
c.97457_97458insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32487ThrfsTer10)
c.79073_79074insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26359ThrfsTer10)
c.100568_100569insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33524ThrfsTer10)
c.100565_100566insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33523ThrfsTer10)
c.99998_99999insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33334ThrfsTer10)
c.97340_97341insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32448ThrfsTer10)
c.97259_97260insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32421ThrfsTer10)
c.79022_79023insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26342ThrfsTer10)
c.68876_68877insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln22960ThrfsTer10)
 dbSNP
2g.178530488C>ACA349406973TTN,TTN-AS1c.98423G>T (p.Gly32808Val)
c.79508G>T (p.Gly26503Val)
c.79307G>T (p.Gly26436Val)
c.78932G>T (p.Gly26311Val)
c.106127G>T (p.Gly35376Val)
c.101204G>T (p.Gly33735Val)
n.446+6852C>A
n.220-5244C>A
c.105224G>T (p.Gly35075Val)
c.79118G>T (p.Gly26373Val)
c.78977G>T (p.Gly26326Val)
c.105020G>T (p.Gly35007Val)
c.100418G>T (p.Gly33473Val)
c.100415G>T (p.Gly33472Val)
c.97457G>T (p.Gly32486Val)
c.79073G>T (p.Gly26358Val)
c.100568G>T (p.Gly33523Val)
c.100565G>T (p.Gly33522Val)
c.99998G>T (p.Gly33333Val)
c.97340G>T (p.Gly32447Val)
c.97259G>T (p.Gly32420Val)
c.79022G>T (p.Gly26341Val)
c.68876G>T (p.Gly22959Val)
 ClinVar
2g.178530488C=CA1310514680TTN,TTN-AS1c.98423G= (p.Gly32808=)
c.79508G= (p.Gly26503=)
c.79307G= (p.Gly26436=)
c.78932G= (p.Gly26311=)
c.106127G= (p.Gly35376=)
c.101204G= (p.Gly33735=)
n.446+6852C=
n.220-5244C=
c.105224G= (p.Gly35075=)
c.79118G= (p.Gly26373=)
c.78977G= (p.Gly26326=)
c.105020G= (p.Gly35007=)
c.100418G= (p.Gly33473=)
c.100415G= (p.Gly33472=)
c.97457G= (p.Gly32486=)
c.79073G= (p.Gly26358=)
c.100568G= (p.Gly33523=)
c.100565G= (p.Gly33522=)
c.99998G= (p.Gly33333=)
c.97340G= (p.Gly32447=)
c.97259G= (p.Gly32420=)
c.79022G= (p.Gly26341=)
c.68876G= (p.Gly22959=)
2g.178530488C>GCA1985162TTN,TTN-AS1c.98423G>C (p.Gly32808Ala)
c.79508G>C (p.Gly26503Ala)
c.79307G>C (p.Gly26436Ala)
c.78932G>C (p.Gly26311Ala)
c.106127G>C (p.Gly35376Ala)
c.101204G>C (p.Gly33735Ala)
n.446+6852C>G
n.220-5244C>G
c.105224G>C (p.Gly35075Ala)
c.79118G>C (p.Gly26373Ala)
c.78977G>C (p.Gly26326Ala)
c.105020G>C (p.Gly35007Ala)
c.100418G>C (p.Gly33473Ala)
c.100415G>C (p.Gly33472Ala)
c.97457G>C (p.Gly32486Ala)
c.79073G>C (p.Gly26358Ala)
c.100568G>C (p.Gly33523Ala)
c.100565G>C (p.Gly33522Ala)
c.99998G>C (p.Gly33333Ala)
c.97340G>C (p.Gly32447Ala)
c.97259G>C (p.Gly32420Ala)
c.79022G>C (p.Gly26341Ala)
c.68876G>C (p.Gly22959Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530488C>TCA349406974TTN,TTN-AS1c.98423G>A (p.Gly32808Glu)
c.79508G>A (p.Gly26503Glu)
c.79307G>A (p.Gly26436Glu)
c.78932G>A (p.Gly26311Glu)
c.106127G>A (p.Gly35376Glu)
c.101204G>A (p.Gly33735Glu)
n.446+6852C>T
n.220-5244C>T
c.105224G>A (p.Gly35075Glu)
c.79118G>A (p.Gly26373Glu)
c.78977G>A (p.Gly26326Glu)
c.105020G>A (p.Gly35007Glu)
c.100418G>A (p.Gly33473Glu)
c.100415G>A (p.Gly33472Glu)
c.97457G>A (p.Gly32486Glu)
c.79073G>A (p.Gly26358Glu)
c.100568G>A (p.Gly33523Glu)
c.100565G>A (p.Gly33522Glu)
c.99998G>A (p.Gly33333Glu)
c.97340G>A (p.Gly32447Glu)
c.97259G>A (p.Gly32420Glu)
c.79022G>A (p.Gly26341Glu)
c.68876G>A (p.Gly22959Glu)
2g.178530489C>ACA349406977TTN,TTN-AS1c.98422G>T (p.Gly32808Trp)
c.79507G>T (p.Gly26503Trp)
c.79306G>T (p.Gly26436Trp)
c.78931G>T (p.Gly26311Trp)
c.106126G>T (p.Gly35376Trp)
c.101203G>T (p.Gly33735Trp)
n.446+6853C>A
n.220-5243C>A
c.105223G>T (p.Gly35075Trp)
c.79117G>T (p.Gly26373Trp)
c.78976G>T (p.Gly26326Trp)
c.105019G>T (p.Gly35007Trp)
c.100417G>T (p.Gly33473Trp)
c.100414G>T (p.Gly33472Trp)
c.97456G>T (p.Gly32486Trp)
c.79072G>T (p.Gly26358Trp)
c.100567G>T (p.Gly33523Trp)
c.100564G>T (p.Gly33522Trp)
c.99997G>T (p.Gly33333Trp)
c.97339G>T (p.Gly32447Trp)
c.97258G>T (p.Gly32420Trp)
c.79021G>T (p.Gly26341Trp)
c.68875G>T (p.Gly22959Trp)
2g.178530489C=CA1310514682TTN,TTN-AS1c.98422G= (p.Gly32808=)
c.79507G= (p.Gly26503=)
c.79306G= (p.Gly26436=)
c.78931G= (p.Gly26311=)
c.106126G= (p.Gly35376=)
c.101203G= (p.Gly33735=)
n.446+6853C=
n.220-5243C=
c.105223G= (p.Gly35075=)
c.79117G= (p.Gly26373=)
c.78976G= (p.Gly26326=)
c.105019G= (p.Gly35007=)
c.100417G= (p.Gly33473=)
c.100414G= (p.Gly33472=)
c.97456G= (p.Gly32486=)
c.79072G= (p.Gly26358=)
c.100567G= (p.Gly33523=)
c.100564G= (p.Gly33522=)
c.99997G= (p.Gly33333=)
c.97339G= (p.Gly32447=)
c.97258G= (p.Gly32420=)
c.79021G= (p.Gly26341=)
c.68875G= (p.Gly22959=)
2g.178530489C>GCA349406976TTN,TTN-AS1c.98422G>C (p.Gly32808Arg)
c.79507G>C (p.Gly26503Arg)
c.79306G>C (p.Gly26436Arg)
c.78931G>C (p.Gly26311Arg)
c.106126G>C (p.Gly35376Arg)
c.101203G>C (p.Gly33735Arg)
n.446+6853C>G
n.220-5243C>G
c.105223G>C (p.Gly35075Arg)
c.79117G>C (p.Gly26373Arg)
c.78976G>C (p.Gly26326Arg)
c.105019G>C (p.Gly35007Arg)
c.100417G>C (p.Gly33473Arg)
c.100414G>C (p.Gly33472Arg)
c.97456G>C (p.Gly32486Arg)
c.79072G>C (p.Gly26358Arg)
c.100567G>C (p.Gly33523Arg)
c.100564G>C (p.Gly33522Arg)
c.99997G>C (p.Gly33333Arg)
c.97339G>C (p.Gly32447Arg)
c.97258G>C (p.Gly32420Arg)
c.79021G>C (p.Gly26341Arg)
c.68875G>C (p.Gly22959Arg)
2g.178530489C>TCA349406975TTN,TTN-AS1c.98422G>A (p.Gly32808Arg)
c.79507G>A (p.Gly26503Arg)
c.79306G>A (p.Gly26436Arg)
c.78931G>A (p.Gly26311Arg)
c.106126G>A (p.Gly35376Arg)
c.101203G>A (p.Gly33735Arg)
n.446+6853C>T
n.220-5243C>T
c.105223G>A (p.Gly35075Arg)
c.79117G>A (p.Gly26373Arg)
c.78976G>A (p.Gly26326Arg)
c.105019G>A (p.Gly35007Arg)
c.100417G>A (p.Gly33473Arg)
c.100414G>A (p.Gly33472Arg)
c.97456G>A (p.Gly32486Arg)
c.79072G>A (p.Gly26358Arg)
c.100567G>A (p.Gly33523Arg)
c.100564G>A (p.Gly33522Arg)
c.99997G>A (p.Gly33333Arg)
c.97339G>A (p.Gly32447Arg)
c.97258G>A (p.Gly32420Arg)
c.79021G>A (p.Gly26341Arg)
c.68875G>A (p.Gly22959Arg)
 ClinVar dbSNP
2g.178530490C>ACA349406978TTN,TTN-AS1c.98421G>T (p.Met32807Ile)
c.79506G>T (p.Met26502Ile)
c.79305G>T (p.Met26435Ile)
c.78930G>T (p.Met26310Ile)
c.106125G>T (p.Met35375Ile)
c.101202G>T (p.Met33734Ile)
n.446+6854C>A
n.220-5242C>A
c.105222G>T (p.Met35074Ile)
c.79116G>T (p.Met26372Ile)
c.78975G>T (p.Met26325Ile)
c.105018G>T (p.Met35006Ile)
c.100416G>T (p.Met33472Ile)
c.100413G>T (p.Met33471Ile)
c.97455G>T (p.Met32485Ile)
c.79071G>T (p.Met26357Ile)
c.100566G>T (p.Met33522Ile)
c.100563G>T (p.Met33521Ile)
c.99996G>T (p.Met33332Ile)
c.97338G>T (p.Met32446Ile)
c.97257G>T (p.Met32419Ile)
c.79020G>T (p.Met26340Ile)
c.68874G>T (p.Met22958Ile)
2g.178530490C>GCA349406979TTN,TTN-AS1c.98421G>C (p.Met32807Ile)
c.79506G>C (p.Met26502Ile)
c.79305G>C (p.Met26435Ile)
c.78930G>C (p.Met26310Ile)
c.106125G>C (p.Met35375Ile)
c.101202G>C (p.Met33734Ile)
n.446+6854C>G
n.220-5242C>G
c.105222G>C (p.Met35074Ile)
c.79116G>C (p.Met26372Ile)
c.78975G>C (p.Met26325Ile)
c.105018G>C (p.Met35006Ile)
c.100416G>C (p.Met33472Ile)
c.100413G>C (p.Met33471Ile)
c.97455G>C (p.Met32485Ile)
c.79071G>C (p.Met26357Ile)
c.100566G>C (p.Met33522Ile)
c.100563G>C (p.Met33521Ile)
c.99996G>C (p.Met33332Ile)
c.97338G>C (p.Met32446Ile)
c.97257G>C (p.Met32419Ile)
c.79020G>C (p.Met26340Ile)
c.68874G>C (p.Met22958Ile)
2g.178530490C>TCA349406980TTN,TTN-AS1c.98421G>A (p.Met32807Ile)
c.79506G>A (p.Met26502Ile)
c.79305G>A (p.Met26435Ile)
c.78930G>A (p.Met26310Ile)
c.106125G>A (p.Met35375Ile)
c.101202G>A (p.Met33734Ile)
n.446+6854C>T
n.220-5242C>T
c.105222G>A (p.Met35074Ile)
c.79116G>A (p.Met26372Ile)
c.78975G>A (p.Met26325Ile)
c.105018G>A (p.Met35006Ile)
c.100416G>A (p.Met33472Ile)
c.100413G>A (p.Met33471Ile)
c.97455G>A (p.Met32485Ile)
c.79071G>A (p.Met26357Ile)
c.100566G>A (p.Met33522Ile)
c.100563G>A (p.Met33521Ile)
c.99996G>A (p.Met33332Ile)
c.97338G>A (p.Met32446Ile)
c.97257G>A (p.Met32419Ile)
c.79020G>A (p.Met26340Ile)
c.68874G>A (p.Met22958Ile)
 gnomAD v4
2g.178530491A=CA1310514683TTN,TTN-AS1c.98420T= (p.Met32807=)
c.79505T= (p.Met26502=)
c.79304T= (p.Met26435=)
c.78929T= (p.Met26310=)
c.106124T= (p.Met35375=)
c.101201T= (p.Met33734=)
n.446+6855A=
n.220-5241A=
c.105221T= (p.Met35074=)
c.79115T= (p.Met26372=)
c.78974T= (p.Met26325=)
c.105017T= (p.Met35006=)
c.100415T= (p.Met33472=)
c.100412T= (p.Met33471=)
c.97454T= (p.Met32485=)
c.79070T= (p.Met26357=)
c.100565T= (p.Met33522=)
c.100562T= (p.Met33521=)
c.99995T= (p.Met33332=)
c.97337T= (p.Met32446=)
c.97256T= (p.Met32419=)
c.79019T= (p.Met26340=)
c.68873T= (p.Met22958=)
2g.178530491A>CCA349406981TTN,TTN-AS1c.98420T>G (p.Met32807Arg)
c.79505T>G (p.Met26502Arg)
c.79304T>G (p.Met26435Arg)
c.78929T>G (p.Met26310Arg)
c.106124T>G (p.Met35375Arg)
c.101201T>G (p.Met33734Arg)
n.446+6855A>C
n.220-5241A>C
c.105221T>G (p.Met35074Arg)
c.79115T>G (p.Met26372Arg)
c.78974T>G (p.Met26325Arg)
c.105017T>G (p.Met35006Arg)
c.100415T>G (p.Met33472Arg)
c.100412T>G (p.Met33471Arg)
c.97454T>G (p.Met32485Arg)
c.79070T>G (p.Met26357Arg)
c.100565T>G (p.Met33522Arg)
c.100562T>G (p.Met33521Arg)
c.99995T>G (p.Met33332Arg)
c.97337T>G (p.Met32446Arg)
c.97256T>G (p.Met32419Arg)
c.79019T>G (p.Met26340Arg)
c.68873T>G (p.Met22958Arg)
 dbSNP gnomAD v2
2g.178530491A>GCA349406982TTN,TTN-AS1c.98420T>C (p.Met32807Thr)
c.79505T>C (p.Met26502Thr)
c.79304T>C (p.Met26435Thr)
c.78929T>C (p.Met26310Thr)
c.106124T>C (p.Met35375Thr)
c.101201T>C (p.Met33734Thr)
n.446+6855A>G
n.220-5241A>G
c.105221T>C (p.Met35074Thr)
c.79115T>C (p.Met26372Thr)
c.78974T>C (p.Met26325Thr)
c.105017T>C (p.Met35006Thr)
c.100415T>C (p.Met33472Thr)
c.100412T>C (p.Met33471Thr)
c.97454T>C (p.Met32485Thr)
c.79070T>C (p.Met26357Thr)
c.100565T>C (p.Met33522Thr)
c.100562T>C (p.Met33521Thr)
c.99995T>C (p.Met33332Thr)
c.97337T>C (p.Met32446Thr)
c.97256T>C (p.Met32419Thr)
c.79019T>C (p.Met26340Thr)
c.68873T>C (p.Met22958Thr)
 gnomAD v4
2g.178530491A>TCA349406983TTN,TTN-AS1c.98420T>A (p.Met32807Lys)
c.79505T>A (p.Met26502Lys)
c.79304T>A (p.Met26435Lys)
c.78929T>A (p.Met26310Lys)
c.106124T>A (p.Met35375Lys)
c.101201T>A (p.Met33734Lys)
n.446+6855A>T
n.220-5241A>T
c.105221T>A (p.Met35074Lys)
c.79115T>A (p.Met26372Lys)
c.78974T>A (p.Met26325Lys)
c.105017T>A (p.Met35006Lys)
c.100415T>A (p.Met33472Lys)
c.100412T>A (p.Met33471Lys)
c.97454T>A (p.Met32485Lys)
c.79070T>A (p.Met26357Lys)
c.100565T>A (p.Met33522Lys)
c.100562T>A (p.Met33521Lys)
c.99995T>A (p.Met33332Lys)
c.97337T>A (p.Met32446Lys)
c.97256T>A (p.Met32419Lys)
c.79019T>A (p.Met26340Lys)
c.68873T>A (p.Met22958Lys)
2g.178530492T>ACA349406986TTN,TTN-AS1c.98419A>T (p.Met32807Leu)
c.79504A>T (p.Met26502Leu)
c.79303A>T (p.Met26435Leu)
c.78928A>T (p.Met26310Leu)
c.106123A>T (p.Met35375Leu)
c.101200A>T (p.Met33734Leu)
n.446+6856T>A
n.220-5240T>A
c.105220A>T (p.Met35074Leu)
c.79114A>T (p.Met26372Leu)
c.78973A>T (p.Met26325Leu)
c.105016A>T (p.Met35006Leu)
c.100414A>T (p.Met33472Leu)
c.100411A>T (p.Met33471Leu)
c.97453A>T (p.Met32485Leu)
c.79069A>T (p.Met26357Leu)
c.100564A>T (p.Met33522Leu)
c.100561A>T (p.Met33521Leu)
c.99994A>T (p.Met33332Leu)
c.97336A>T (p.Met32446Leu)
c.97255A>T (p.Met32419Leu)
c.79018A>T (p.Met26340Leu)
c.68872A>T (p.Met22958Leu)
2g.178530492T>CCA349406985TTN,TTN-AS1c.98419A>G (p.Met32807Val)
c.79504A>G (p.Met26502Val)
c.79303A>G (p.Met26435Val)
c.78928A>G (p.Met26310Val)
c.106123A>G (p.Met35375Val)
c.101200A>G (p.Met33734Val)
n.446+6856T>C
n.220-5240T>C
c.105220A>G (p.Met35074Val)
c.79114A>G (p.Met26372Val)
c.78973A>G (p.Met26325Val)
c.105016A>G (p.Met35006Val)
c.100414A>G (p.Met33472Val)
c.100411A>G (p.Met33471Val)
c.97453A>G (p.Met32485Val)
c.79069A>G (p.Met26357Val)
c.100564A>G (p.Met33522Val)
c.100561A>G (p.Met33521Val)
c.99994A>G (p.Met33332Val)
c.97336A>G (p.Met32446Val)
c.97255A>G (p.Met32419Val)
c.79018A>G (p.Met26340Val)
c.68872A>G (p.Met22958Val)
 gnomAD v4
2g.178530492T>GCA349406984TTN,TTN-AS1c.98419A>C (p.Met32807Leu)
c.79504A>C (p.Met26502Leu)
c.79303A>C (p.Met26435Leu)
c.78928A>C (p.Met26310Leu)
c.106123A>C (p.Met35375Leu)
c.101200A>C (p.Met33734Leu)
n.446+6856T>G
n.220-5240T>G
c.105220A>C (p.Met35074Leu)
c.79114A>C (p.Met26372Leu)
c.78973A>C (p.Met26325Leu)
c.105016A>C (p.Met35006Leu)
c.100414A>C (p.Met33472Leu)
c.100411A>C (p.Met33471Leu)
c.97453A>C (p.Met32485Leu)
c.79069A>C (p.Met26357Leu)
c.100564A>C (p.Met33522Leu)
c.100561A>C (p.Met33521Leu)
c.99994A>C (p.Met33332Leu)
c.97336A>C (p.Met32446Leu)
c.97255A>C (p.Met32419Leu)
c.79018A>C (p.Met26340Leu)
c.68872A>C (p.Met22958Leu)
2g.178530493A>CCA349406987TTN,TTN-AS1c.98418T>G (p.Phe32806Leu)
c.79503T>G (p.Phe26501Leu)
c.79302T>G (p.Phe26434Leu)
c.78927T>G (p.Phe26309Leu)
c.106122T>G (p.Phe35374Leu)
c.101199T>G (p.Phe33733Leu)
n.446+6857A>C
n.220-5239A>C
c.105219T>G (p.Phe35073Leu)
c.79113T>G (p.Phe26371Leu)
c.78972T>G (p.Phe26324Leu)
c.105015T>G (p.Phe35005Leu)
c.100413T>G (p.Phe33471Leu)
c.100410T>G (p.Phe33470Leu)
c.97452T>G (p.Phe32484Leu)
c.79068T>G (p.Phe26356Leu)
c.100563T>G (p.Phe33521Leu)
c.100560T>G (p.Phe33520Leu)
c.99993T>G (p.Phe33331Leu)
c.97335T>G (p.Phe32445Leu)
c.97254T>G (p.Phe32418Leu)
c.79017T>G (p.Phe26339Leu)
c.68871T>G (p.Phe22957Leu)
2g.178530493A>GCA430235084TTN,TTN-AS1c.98418T>C (p.Phe32806=)
c.79503T>C (p.Phe26501=)
c.79302T>C (p.Phe26434=)
c.78927T>C (p.Phe26309=)
c.106122T>C (p.Phe35374=)
c.101199T>C (p.Phe33733=)
n.446+6857A>G
n.220-5239A>G
c.105219T>C (p.Phe35073=)
c.79113T>C (p.Phe26371=)
c.78972T>C (p.Phe26324=)
c.105015T>C (p.Phe35005=)
c.100413T>C (p.Phe33471=)
c.100410T>C (p.Phe33470=)
c.97452T>C (p.Phe32484=)
c.79068T>C (p.Phe26356=)
c.100563T>C (p.Phe33521=)
c.100560T>C (p.Phe33520=)
c.99993T>C (p.Phe33331=)
c.97335T>C (p.Phe32445=)
c.97254T>C (p.Phe32418=)
c.79017T>C (p.Phe26339=)
c.68871T>C (p.Phe22957=)
 gnomAD v4
2g.178530493A>TCA349406988TTN,TTN-AS1c.98418T>A (p.Phe32806Leu)
c.79503T>A (p.Phe26501Leu)
c.79302T>A (p.Phe26434Leu)
c.78927T>A (p.Phe26309Leu)
c.106122T>A (p.Phe35374Leu)
c.101199T>A (p.Phe33733Leu)
n.446+6857A>T
n.220-5239A>T
c.105219T>A (p.Phe35073Leu)
c.79113T>A (p.Phe26371Leu)
c.78972T>A (p.Phe26324Leu)
c.105015T>A (p.Phe35005Leu)
c.100413T>A (p.Phe33471Leu)
c.100410T>A (p.Phe33470Leu)
c.97452T>A (p.Phe32484Leu)
c.79068T>A (p.Phe26356Leu)
c.100563T>A (p.Phe33521Leu)
c.100560T>A (p.Phe33520Leu)
c.99993T>A (p.Phe33331Leu)
c.97335T>A (p.Phe32445Leu)
c.97254T>A (p.Phe32418Leu)
c.79017T>A (p.Phe26339Leu)
c.68871T>A (p.Phe22957Leu)
2g.178530494A=CA1310514685TTN,TTN-AS1c.98417T= (p.Phe32806=)
c.79502T= (p.Phe26501=)
c.79301T= (p.Phe26434=)
c.78926T= (p.Phe26309=)
c.106121T= (p.Phe35374=)
c.101198T= (p.Phe33733=)
n.446+6858A=
n.220-5238A=
c.105218T= (p.Phe35073=)
c.79112T= (p.Phe26371=)
c.78971T= (p.Phe26324=)
c.105014T= (p.Phe35005=)
c.100412T= (p.Phe33471=)
c.100409T= (p.Phe33470=)
c.97451T= (p.Phe32484=)
c.79067T= (p.Phe26356=)
c.100562T= (p.Phe33521=)
c.100559T= (p.Phe33520=)
c.99992T= (p.Phe33331=)
c.97334T= (p.Phe32445=)
c.97253T= (p.Phe32418=)
c.79016T= (p.Phe26339=)
c.68870T= (p.Phe22957=)
2g.178530494A>CCA349406989TTN,TTN-AS1c.98417T>G (p.Phe32806Cys)
c.79502T>G (p.Phe26501Cys)
c.79301T>G (p.Phe26434Cys)
c.78926T>G (p.Phe26309Cys)
c.106121T>G (p.Phe35374Cys)
c.101198T>G (p.Phe33733Cys)
n.446+6858A>C
n.220-5238A>C
c.105218T>G (p.Phe35073Cys)
c.79112T>G (p.Phe26371Cys)
c.78971T>G (p.Phe26324Cys)
c.105014T>G (p.Phe35005Cys)
c.100412T>G (p.Phe33471Cys)
c.100409T>G (p.Phe33470Cys)
c.97451T>G (p.Phe32484Cys)
c.79067T>G (p.Phe26356Cys)
c.100562T>G (p.Phe33521Cys)
c.100559T>G (p.Phe33520Cys)
c.99992T>G (p.Phe33331Cys)
c.97334T>G (p.Phe32445Cys)
c.97253T>G (p.Phe32418Cys)
c.79016T>G (p.Phe26339Cys)
c.68870T>G (p.Phe22957Cys)
2g.178530494A>GCA349406990TTN,TTN-AS1c.98417T>C (p.Phe32806Ser)
c.79502T>C (p.Phe26501Ser)
c.79301T>C (p.Phe26434Ser)
c.78926T>C (p.Phe26309Ser)
c.106121T>C (p.Phe35374Ser)
c.101198T>C (p.Phe33733Ser)
n.446+6858A>G
n.220-5238A>G
c.105218T>C (p.Phe35073Ser)
c.79112T>C (p.Phe26371Ser)
c.78971T>C (p.Phe26324Ser)
c.105014T>C (p.Phe35005Ser)
c.100412T>C (p.Phe33471Ser)
c.100409T>C (p.Phe33470Ser)
c.97451T>C (p.Phe32484Ser)
c.79067T>C (p.Phe26356Ser)
c.100562T>C (p.Phe33521Ser)
c.100559T>C (p.Phe33520Ser)
c.99992T>C (p.Phe33331Ser)
c.97334T>C (p.Phe32445Ser)
c.97253T>C (p.Phe32418Ser)
c.79016T>C (p.Phe26339Ser)
c.68870T>C (p.Phe22957Ser)
2g.178530494A>TCA183679TTN,TTN-AS1c.98417T>A (p.Phe32806Tyr)
c.79502T>A (p.Phe26501Tyr)
c.79301T>A (p.Phe26434Tyr)
c.78926T>A (p.Phe26309Tyr)
c.106121T>A (p.Phe35374Tyr)
c.101198T>A (p.Phe33733Tyr)
n.446+6858A>T
n.220-5238A>T
c.105218T>A (p.Phe35073Tyr)
c.79112T>A (p.Phe26371Tyr)
c.78971T>A (p.Phe26324Tyr)
c.105014T>A (p.Phe35005Tyr)
c.100412T>A (p.Phe33471Tyr)
c.100409T>A (p.Phe33470Tyr)
c.97451T>A (p.Phe32484Tyr)
c.79067T>A (p.Phe26356Tyr)
c.100562T>A (p.Phe33521Tyr)
c.100559T>A (p.Phe33520Tyr)
c.99992T>A (p.Phe33331Tyr)
c.97334T>A (p.Phe32445Tyr)
c.97253T>A (p.Phe32418Tyr)
c.79016T>A (p.Phe26339Tyr)
c.68870T>A (p.Phe22957Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530495A=CA1310514687TTN,TTN-AS1c.98416T= (p.Phe32806=)
c.79501T= (p.Phe26501=)
c.79300T= (p.Phe26434=)
c.78925T= (p.Phe26309=)
c.106120T= (p.Phe35374=)
c.101197T= (p.Phe33733=)
n.446+6859A=
n.220-5237A=
c.105217T= (p.Phe35073=)
c.79111T= (p.Phe26371=)
c.78970T= (p.Phe26324=)
c.105013T= (p.Phe35005=)
c.100411T= (p.Phe33471=)
c.100408T= (p.Phe33470=)
c.97450T= (p.Phe32484=)
c.79066T= (p.Phe26356=)
c.100561T= (p.Phe33521=)
c.100558T= (p.Phe33520=)
c.99991T= (p.Phe33331=)
c.97333T= (p.Phe32445=)
c.97252T= (p.Phe32418=)
c.79015T= (p.Phe26339=)
c.68869T= (p.Phe22957=)
2g.178530495A>CCA349406991TTN,TTN-AS1c.98416T>G (p.Phe32806Val)
c.79501T>G (p.Phe26501Val)
c.79300T>G (p.Phe26434Val)
c.78925T>G (p.Phe26309Val)
c.106120T>G (p.Phe35374Val)
c.101197T>G (p.Phe33733Val)
n.446+6859A>C
n.220-5237A>C
c.105217T>G (p.Phe35073Val)
c.79111T>G (p.Phe26371Val)
c.78970T>G (p.Phe26324Val)
c.105013T>G (p.Phe35005Val)
c.100411T>G (p.Phe33471Val)
c.100408T>G (p.Phe33470Val)
c.97450T>G (p.Phe32484Val)
c.79066T>G (p.Phe26356Val)
c.100561T>G (p.Phe33521Val)
c.100558T>G (p.Phe33520Val)
c.99991T>G (p.Phe33331Val)
c.97333T>G (p.Phe32445Val)
c.97252T>G (p.Phe32418Val)
c.79015T>G (p.Phe26339Val)
c.68869T>G (p.Phe22957Val)
2g.178530495A>GCA349406992TTN,TTN-AS1c.98416T>C (p.Phe32806Leu)
c.79501T>C (p.Phe26501Leu)
c.79300T>C (p.Phe26434Leu)
c.78925T>C (p.Phe26309Leu)
c.106120T>C (p.Phe35374Leu)
c.101197T>C (p.Phe33733Leu)
n.446+6859A>G
n.220-5237A>G
c.105217T>C (p.Phe35073Leu)
c.79111T>C (p.Phe26371Leu)
c.78970T>C (p.Phe26324Leu)
c.105013T>C (p.Phe35005Leu)
c.100411T>C (p.Phe33471Leu)
c.100408T>C (p.Phe33470Leu)
c.97450T>C (p.Phe32484Leu)
c.79066T>C (p.Phe26356Leu)
c.100561T>C (p.Phe33521Leu)
c.100558T>C (p.Phe33520Leu)
c.99991T>C (p.Phe33331Leu)
c.97333T>C (p.Phe32445Leu)
c.97252T>C (p.Phe32418Leu)
c.79015T>C (p.Phe26339Leu)
c.68869T>C (p.Phe22957Leu)
2g.178530495A>TCA238441TTN,TTN-AS1c.98416T>A (p.Phe32806Ile)
c.79501T>A (p.Phe26501Ile)
c.79300T>A (p.Phe26434Ile)
c.78925T>A (p.Phe26309Ile)
c.106120T>A (p.Phe35374Ile)
c.101197T>A (p.Phe33733Ile)
n.446+6859A>T
n.220-5237A>T
c.105217T>A (p.Phe35073Ile)
c.79111T>A (p.Phe26371Ile)
c.78970T>A (p.Phe26324Ile)
c.105013T>A (p.Phe35005Ile)
c.100411T>A (p.Phe33471Ile)
c.100408T>A (p.Phe33470Ile)
c.97450T>A (p.Phe32484Ile)
c.79066T>A (p.Phe26356Ile)
c.100561T>A (p.Phe33521Ile)
c.100558T>A (p.Phe33520Ile)
c.99991T>A (p.Phe33331Ile)
c.97333T>A (p.Phe32445Ile)
c.97252T>A (p.Phe32418Ile)
c.79015T>A (p.Phe26339Ile)
c.68869T>A (p.Phe22957Ile)
 ClinVar dbSNP
2g.178530496T>ACA349406993TTN,TTN-AS1c.98415A>T (p.Gln32805His)
c.79500A>T (p.Gln26500His)
c.79299A>T (p.Gln26433His)
c.78924A>T (p.Gln26308His)
c.106119A>T (p.Gln35373His)
c.101196A>T (p.Gln33732His)
n.446+6860T>A
n.220-5236T>A
c.105216A>T (p.Gln35072His)
c.79110A>T (p.Gln26370His)
c.78969A>T (p.Gln26323His)
c.105012A>T (p.Gln35004His)
c.100410A>T (p.Gln33470His)
c.100407A>T (p.Gln33469His)
c.97449A>T (p.Gln32483His)
c.79065A>T (p.Gln26355His)
c.100560A>T (p.Gln33520His)
c.100557A>T (p.Gln33519His)
c.99990A>T (p.Gln33330His)
c.97332A>T (p.Gln32444His)
c.97251A>T (p.Gln32417His)
c.79014A>T (p.Gln26338His)
c.68868A>T (p.Gln22956His)
2g.178530496T>CCA430235089TTN,TTN-AS1c.98415A>G (p.Gln32805=)
c.79500A>G (p.Gln26500=)
c.79299A>G (p.Gln26433=)
c.78924A>G (p.Gln26308=)
c.106119A>G (p.Gln35373=)
c.101196A>G (p.Gln33732=)
n.446+6860T>C
n.220-5236T>C
c.105216A>G (p.Gln35072=)
c.79110A>G (p.Gln26370=)
c.78969A>G (p.Gln26323=)
c.105012A>G (p.Gln35004=)
c.100410A>G (p.Gln33470=)
c.100407A>G (p.Gln33469=)
c.97449A>G (p.Gln32483=)
c.79065A>G (p.Gln26355=)
c.100560A>G (p.Gln33520=)
c.100557A>G (p.Gln33519=)
c.99990A>G (p.Gln33330=)
c.97332A>G (p.Gln32444=)
c.97251A>G (p.Gln32417=)
c.79014A>G (p.Gln26338=)
c.68868A>G (p.Gln22956=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530496T>GCA349406994TTN,TTN-AS1c.98415A>C (p.Gln32805His)
c.79500A>C (p.Gln26500His)
c.79299A>C (p.Gln26433His)
c.78924A>C (p.Gln26308His)
c.106119A>C (p.Gln35373His)
c.101196A>C (p.Gln33732His)
n.446+6860T>G
n.220-5236T>G
c.105216A>C (p.Gln35072His)
c.79110A>C (p.Gln26370His)
c.78969A>C (p.Gln26323His)
c.105012A>C (p.Gln35004His)
c.100410A>C (p.Gln33470His)
c.100407A>C (p.Gln33469His)
c.97449A>C (p.Gln32483His)
c.79065A>C (p.Gln26355His)
c.100560A>C (p.Gln33520His)
c.100557A>C (p.Gln33519His)
c.99990A>C (p.Gln33330His)
c.97332A>C (p.Gln32444His)
c.97251A>C (p.Gln32417His)
c.79014A>C (p.Gln26338His)
c.68868A>C (p.Gln22956His)
2g.178530496T=CA1310514689TTN,TTN-AS1c.98415A= (p.Gln32805=)
c.79500A= (p.Gln26500=)
c.79299A= (p.Gln26433=)
c.78924A= (p.Gln26308=)
c.106119A= (p.Gln35373=)
c.101196A= (p.Gln33732=)
n.446+6860T=
n.220-5236T=
c.105216A= (p.Gln35072=)
c.79110A= (p.Gln26370=)
c.78969A= (p.Gln26323=)
c.105012A= (p.Gln35004=)
c.100410A= (p.Gln33470=)
c.100407A= (p.Gln33469=)
c.97449A= (p.Gln32483=)
c.79065A= (p.Gln26355=)
c.100560A= (p.Gln33520=)
c.100557A= (p.Gln33519=)
c.99990A= (p.Gln33330=)
c.97332A= (p.Gln32444=)
c.97251A= (p.Gln32417=)
c.79014A= (p.Gln26338=)
c.68868A= (p.Gln22956=)
2g.178530497T>ACA349406995TTN,TTN-AS1c.98414A>T (p.Gln32805Leu)
c.79499A>T (p.Gln26500Leu)
c.79298A>T (p.Gln26433Leu)
c.78923A>T (p.Gln26308Leu)
c.106118A>T (p.Gln35373Leu)
c.101195A>T (p.Gln33732Leu)
n.446+6861T>A
n.220-5235T>A
c.105215A>T (p.Gln35072Leu)
c.79109A>T (p.Gln26370Leu)
c.78968A>T (p.Gln26323Leu)
c.105011A>T (p.Gln35004Leu)
c.100409A>T (p.Gln33470Leu)
c.100406A>T (p.Gln33469Leu)
c.97448A>T (p.Gln32483Leu)
c.79064A>T (p.Gln26355Leu)
c.100559A>T (p.Gln33520Leu)
c.100556A>T (p.Gln33519Leu)
c.99989A>T (p.Gln33330Leu)
c.97331A>T (p.Gln32444Leu)
c.97250A>T (p.Gln32417Leu)
c.79013A>T (p.Gln26338Leu)
c.68867A>T (p.Gln22956Leu)
2g.178530497T>CCA349406996TTN,TTN-AS1c.98414A>G (p.Gln32805Arg)
c.79499A>G (p.Gln26500Arg)
c.79298A>G (p.Gln26433Arg)
c.78923A>G (p.Gln26308Arg)
c.106118A>G (p.Gln35373Arg)
c.101195A>G (p.Gln33732Arg)
n.446+6861T>C
n.220-5235T>C
c.105215A>G (p.Gln35072Arg)
c.79109A>G (p.Gln26370Arg)
c.78968A>G (p.Gln26323Arg)
c.105011A>G (p.Gln35004Arg)
c.100409A>G (p.Gln33470Arg)
c.100406A>G (p.Gln33469Arg)
c.97448A>G (p.Gln32483Arg)
c.79064A>G (p.Gln26355Arg)
c.100559A>G (p.Gln33520Arg)
c.100556A>G (p.Gln33519Arg)
c.99989A>G (p.Gln33330Arg)
c.97331A>G (p.Gln32444Arg)
c.97250A>G (p.Gln32417Arg)
c.79013A>G (p.Gln26338Arg)
c.68867A>G (p.Gln22956Arg)
2g.178530497T>GCA349406997TTN,TTN-AS1c.98414A>C (p.Gln32805Pro)
c.79499A>C (p.Gln26500Pro)
c.79298A>C (p.Gln26433Pro)
c.78923A>C (p.Gln26308Pro)
c.106118A>C (p.Gln35373Pro)
c.101195A>C (p.Gln33732Pro)
n.446+6861T>G
n.220-5235T>G
c.105215A>C (p.Gln35072Pro)
c.79109A>C (p.Gln26370Pro)
c.78968A>C (p.Gln26323Pro)
c.105011A>C (p.Gln35004Pro)
c.100409A>C (p.Gln33470Pro)
c.100406A>C (p.Gln33469Pro)
c.97448A>C (p.Gln32483Pro)
c.79064A>C (p.Gln26355Pro)
c.100559A>C (p.Gln33520Pro)
c.100556A>C (p.Gln33519Pro)
c.99989A>C (p.Gln33330Pro)
c.97331A>C (p.Gln32444Pro)
c.97250A>C (p.Gln32417Pro)
c.79013A>C (p.Gln26338Pro)
c.68867A>C (p.Gln22956Pro)
2g.178530498G>ACA349406998TTN,TTN-AS1c.98413C>T (p.Gln32805Ter)
c.79498C>T (p.Gln26500Ter)
c.79297C>T (p.Gln26433Ter)
c.78922C>T (p.Gln26308Ter)
c.106117C>T (p.Gln35373Ter)
c.101194C>T (p.Gln33732Ter)
n.446+6862G>A
n.220-5234G>A
c.105214C>T (p.Gln35072Ter)
c.79108C>T (p.Gln26370Ter)
c.78967C>T (p.Gln26323Ter)
c.105010C>T (p.Gln35004Ter)
c.100408C>T (p.Gln33470Ter)
c.100405C>T (p.Gln33469Ter)
c.97447C>T (p.Gln32483Ter)
c.79063C>T (p.Gln26355Ter)
c.100558C>T (p.Gln33520Ter)
c.100555C>T (p.Gln33519Ter)
c.99988C>T (p.Gln33330Ter)
c.97330C>T (p.Gln32444Ter)
c.97249C>T (p.Gln32417Ter)
c.79012C>T (p.Gln26338Ter)
c.68866C>T (p.Gln22956Ter)
 ClinVar dbSNP
2g.178530498G>CCA349406999TTN,TTN-AS1c.98413C>G (p.Gln32805Glu)
c.79498C>G (p.Gln26500Glu)
c.79297C>G (p.Gln26433Glu)
c.78922C>G (p.Gln26308Glu)
c.106117C>G (p.Gln35373Glu)
c.101194C>G (p.Gln33732Glu)
n.446+6862G>C
n.220-5234G>C
c.105214C>G (p.Gln35072Glu)
c.79108C>G (p.Gln26370Glu)
c.78967C>G (p.Gln26323Glu)
c.105010C>G (p.Gln35004Glu)
c.100408C>G (p.Gln33470Glu)
c.100405C>G (p.Gln33469Glu)
c.97447C>G (p.Gln32483Glu)
c.79063C>G (p.Gln26355Glu)
c.100558C>G (p.Gln33520Glu)
c.100555C>G (p.Gln33519Glu)
c.99988C>G (p.Gln33330Glu)
c.97330C>G (p.Gln32444Glu)
c.97249C>G (p.Gln32417Glu)
c.79012C>G (p.Gln26338Glu)
c.68866C>G (p.Gln22956Glu)
2g.178530498G=CA1310514691TTN,TTN-AS1c.98413C= (p.Gln32805=)
c.79498C= (p.Gln26500=)
c.79297C= (p.Gln26433=)
c.78922C= (p.Gln26308=)
c.106117C= (p.Gln35373=)
c.101194C= (p.Gln33732=)
n.446+6862G=
n.220-5234G=
c.105214C= (p.Gln35072=)
c.79108C= (p.Gln26370=)
c.78967C= (p.Gln26323=)
c.105010C= (p.Gln35004=)
c.100408C= (p.Gln33470=)
c.100405C= (p.Gln33469=)
c.97447C= (p.Gln32483=)
c.79063C= (p.Gln26355=)
c.100558C= (p.Gln33520=)
c.100555C= (p.Gln33519=)
c.99988C= (p.Gln33330=)
c.97330C= (p.Gln32444=)
c.97249C= (p.Gln32417=)
c.79012C= (p.Gln26338=)
c.68866C= (p.Gln22956=)
2g.178530498G>TCA1985163TTN,TTN-AS1c.98413C>A (p.Gln32805Lys)
c.79498C>A (p.Gln26500Lys)
c.79297C>A (p.Gln26433Lys)
c.78922C>A (p.Gln26308Lys)
c.106117C>A (p.Gln35373Lys)
c.101194C>A (p.Gln33732Lys)
n.446+6862G>T
n.220-5234G>T
c.105214C>A (p.Gln35072Lys)
c.79108C>A (p.Gln26370Lys)
c.78967C>A (p.Gln26323Lys)
c.105010C>A (p.Gln35004Lys)
c.100408C>A (p.Gln33470Lys)
c.100405C>A (p.Gln33469Lys)
c.97447C>A (p.Gln32483Lys)
c.79063C>A (p.Gln26355Lys)
c.100558C>A (p.Gln33520Lys)
c.100555C>A (p.Gln33519Lys)
c.99988C>A (p.Gln33330Lys)
c.97330C>A (p.Gln32444Lys)
c.97249C>A (p.Gln32417Lys)
c.79012C>A (p.Gln26338Lys)
c.68866C>A (p.Gln22956Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530500_178530503dupCA2753330763TTN,TTN-AS1c.98410_98413dup (p.Gln32805LeufsTer9)
c.79495_79498dup (p.Gln26500LeufsTer9)
c.79294_79297dup (p.Gln26433LeufsTer9)
c.78919_78922dup (p.Gln26308LeufsTer9)
c.106114_106117dup (p.Gln35373LeufsTer9)
c.101191_101194dup (p.Gln33732LeufsTer9)
n.446+6864_446+6867dup
n.220-5232_220-5229dup
c.105211_105214dup (p.Gln35072LeufsTer9)
c.79105_79108dup (p.Gln26370LeufsTer9)
c.78964_78967dup (p.Gln26323LeufsTer9)
c.105007_105010dup (p.Gln35004LeufsTer9)
c.100405_100408dup (p.Gln33470LeufsTer9)
c.100402_100405dup (p.Gln33469LeufsTer9)
c.97444_97447dup (p.Gln32483LeufsTer9)
c.79060_79063dup (p.Gln26355LeufsTer9)
c.100555_100558dup (p.Gln33520LeufsTer9)
c.100552_100555dup (p.Gln33519LeufsTer9)
c.99985_99988dup (p.Gln33330LeufsTer9)
c.97327_97330dup (p.Gln32444LeufsTer9)
c.97246_97249dup (p.Gln32417LeufsTer9)
c.79009_79012dup (p.Gln26338LeufsTer9)
c.68863_68866dup (p.Gln22956LeufsTer9)
2g.178530499T>ACA349407000TTN,TTN-AS1c.98412A>T (p.Leu32804Phe)
c.79497A>T (p.Leu26499Phe)
c.79296A>T (p.Leu26432Phe)
c.78921A>T (p.Leu26307Phe)
c.106116A>T (p.Leu35372Phe)
c.101193A>T (p.Leu33731Phe)
n.446+6863T>A
n.220-5233T>A
c.105213A>T (p.Leu35071Phe)
c.79107A>T (p.Leu26369Phe)
c.78966A>T (p.Leu26322Phe)
c.105009A>T (p.Leu35003Phe)
c.100407A>T (p.Leu33469Phe)
c.100404A>T (p.Leu33468Phe)
c.97446A>T (p.Leu32482Phe)
c.79062A>T (p.Leu26354Phe)
c.100557A>T (p.Leu33519Phe)
c.100554A>T (p.Leu33518Phe)
c.99987A>T (p.Leu33329Phe)
c.97329A>T (p.Leu32443Phe)
c.97248A>T (p.Leu32416Phe)
c.79011A>T (p.Leu26337Phe)
c.68865A>T (p.Leu22955Phe)
2g.178530499T>CCA430235092TTN,TTN-AS1c.98412A>G (p.Leu32804=)
c.79497A>G (p.Leu26499=)
c.79296A>G (p.Leu26432=)
c.78921A>G (p.Leu26307=)
c.106116A>G (p.Leu35372=)
c.101193A>G (p.Leu33731=)
n.446+6863T>C
n.220-5233T>C
c.105213A>G (p.Leu35071=)
c.79107A>G (p.Leu26369=)
c.78966A>G (p.Leu26322=)
c.105009A>G (p.Leu35003=)
c.100407A>G (p.Leu33469=)
c.100404A>G (p.Leu33468=)
c.97446A>G (p.Leu32482=)
c.79062A>G (p.Leu26354=)
c.100557A>G (p.Leu33519=)
c.100554A>G (p.Leu33518=)
c.99987A>G (p.Leu33329=)
c.97329A>G (p.Leu32443=)
c.97248A>G (p.Leu32416=)
c.79011A>G (p.Leu26337=)
c.68865A>G (p.Leu22955=)
2g.178530499T>GCA349407001TTN,TTN-AS1c.98412A>C (p.Leu32804Phe)
c.79497A>C (p.Leu26499Phe)
c.79296A>C (p.Leu26432Phe)
c.78921A>C (p.Leu26307Phe)
c.106116A>C (p.Leu35372Phe)
c.101193A>C (p.Leu33731Phe)
n.446+6863T>G
n.220-5233T>G
c.105213A>C (p.Leu35071Phe)
c.79107A>C (p.Leu26369Phe)
c.78966A>C (p.Leu26322Phe)
c.105009A>C (p.Leu35003Phe)
c.100407A>C (p.Leu33469Phe)
c.100404A>C (p.Leu33468Phe)
c.97446A>C (p.Leu32482Phe)
c.79062A>C (p.Leu26354Phe)
c.100557A>C (p.Leu33519Phe)
c.100554A>C (p.Leu33518Phe)
c.99987A>C (p.Leu33329Phe)
c.97329A>C (p.Leu32443Phe)
c.97248A>C (p.Leu32416Phe)
c.79011A>C (p.Leu26337Phe)
c.68865A>C (p.Leu22955Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.178530499T=CA1310514693TTN,TTN-AS1c.98412A= (p.Leu32804=)
c.79497A= (p.Leu26499=)
c.79296A= (p.Leu26432=)
c.78921A= (p.Leu26307=)
c.106116A= (p.Leu35372=)
c.101193A= (p.Leu33731=)
n.446+6863T=
n.220-5233T=
c.105213A= (p.Leu35071=)
c.79107A= (p.Leu26369=)
c.78966A= (p.Leu26322=)
c.105009A= (p.Leu35003=)
c.100407A= (p.Leu33469=)
c.100404A= (p.Leu33468=)
c.97446A= (p.Leu32482=)
c.79062A= (p.Leu26354=)
c.100557A= (p.Leu33519=)
c.100554A= (p.Leu33518=)
c.99987A= (p.Leu33329=)
c.97329A= (p.Leu32443=)
c.97248A= (p.Leu32416=)
c.79011A= (p.Leu26337=)
c.68865A= (p.Leu22955=)
2g.178530499_178530500insTTCA2586970739TTN,TTN-AS1c.98412_98413insAA (p.Gln32805AsnfsTer?)
c.79497_79498insAA (p.Gln26500AsnfsTer?)
c.79296_79297insAA (p.Gln26433AsnfsTer?)
c.78921_78922insAA (p.Gln26308AsnfsTer?)
c.106116_106117insAA (p.Gln35373AsnfsTer?)
c.101193_101194insAA (p.Gln33732AsnfsTer?)
n.446+6863_446+6864insTT
n.220-5233_220-5232insTT
c.105213_105214insAA (p.Gln35072AsnfsTer?)
c.79107_79108insAA (p.Gln26370AsnfsTer?)
c.78966_78967insAA (p.Gln26323AsnfsTer?)
c.105009_105010insAA (p.Gln35004AsnfsTer?)
c.100407_100408insAA (p.Gln33470AsnfsTer?)
c.100404_100405insAA (p.Gln33469AsnfsTer?)
c.97446_97447insAA (p.Gln32483AsnfsTer?)
c.79062_79063insAA (p.Gln26355AsnfsTer?)
c.100557_100558insAA (p.Gln33520AsnfsTer?)
c.100554_100555insAA (p.Gln33519AsnfsTer?)
c.99987_99988insAA (p.Gln33330AsnfsTer?)
c.97329_97330insAA (p.Gln32444AsnfsTer?)
c.97248_97249insAA (p.Gln32417AsnfsTer?)
c.79011_79012insAA (p.Gln26338AsnfsTer?)
c.68865_68866insAA (p.Gln22956AsnfsTer?)
2g.178530500A>CCA349407004TTN,TTN-AS1c.98411T>G (p.Leu32804Ter)
c.79496T>G (p.Leu26499Ter)
c.79295T>G (p.Leu26432Ter)
c.78920T>G (p.Leu26307Ter)
c.106115T>G (p.Leu35372Ter)
c.101192T>G (p.Leu33731Ter)
n.446+6864A>C
n.220-5232A>C
c.105212T>G (p.Leu35071Ter)
c.79106T>G (p.Leu26369Ter)
c.78965T>G (p.Leu26322Ter)
c.105008T>G (p.Leu35003Ter)
c.100406T>G (p.Leu33469Ter)
c.100403T>G (p.Leu33468Ter)
c.97445T>G (p.Leu32482Ter)
c.79061T>G (p.Leu26354Ter)
c.100556T>G (p.Leu33519Ter)
c.100553T>G (p.Leu33518Ter)
c.99986T>G (p.Leu33329Ter)
c.97328T>G (p.Leu32443Ter)
c.97247T>G (p.Leu32416Ter)
c.79010T>G (p.Leu26337Ter)
c.68864T>G (p.Leu22955Ter)
2g.178530500A>GCA349407003TTN,TTN-AS1c.98411T>C (p.Leu32804Ser)
c.79496T>C (p.Leu26499Ser)
c.79295T>C (p.Leu26432Ser)
c.78920T>C (p.Leu26307Ser)
c.106115T>C (p.Leu35372Ser)
c.101192T>C (p.Leu33731Ser)
n.446+6864A>G
n.220-5232A>G
c.105212T>C (p.Leu35071Ser)
c.79106T>C (p.Leu26369Ser)
c.78965T>C (p.Leu26322Ser)
c.105008T>C (p.Leu35003Ser)
c.100406T>C (p.Leu33469Ser)
c.100403T>C (p.Leu33468Ser)
c.97445T>C (p.Leu32482Ser)
c.79061T>C (p.Leu26354Ser)
c.100556T>C (p.Leu33519Ser)
c.100553T>C (p.Leu33518Ser)
c.99986T>C (p.Leu33329Ser)
c.97328T>C (p.Leu32443Ser)
c.97247T>C (p.Leu32416Ser)
c.79010T>C (p.Leu26337Ser)
c.68864T>C (p.Leu22955Ser)
2g.178530500A>TCA349407002TTN,TTN-AS1c.98411T>A (p.Leu32804Ter)
c.79496T>A (p.Leu26499Ter)
c.79295T>A (p.Leu26432Ter)
c.78920T>A (p.Leu26307Ter)
c.106115T>A (p.Leu35372Ter)
c.101192T>A (p.Leu33731Ter)
n.446+6864A>T
n.220-5232A>T
c.105212T>A (p.Leu35071Ter)
c.79106T>A (p.Leu26369Ter)
c.78965T>A (p.Leu26322Ter)
c.105008T>A (p.Leu35003Ter)
c.100406T>A (p.Leu33469Ter)
c.100403T>A (p.Leu33468Ter)
c.97445T>A (p.Leu32482Ter)
c.79061T>A (p.Leu26354Ter)
c.100556T>A (p.Leu33519Ter)
c.100553T>A (p.Leu33518Ter)
c.99986T>A (p.Leu33329Ter)
c.97328T>A (p.Leu32443Ter)
c.97247T>A (p.Leu32416Ter)
c.79010T>A (p.Leu26337Ter)
c.68864T>A (p.Leu22955Ter)
2g.178530500_178530501dupCA761284672TTN,TTN-AS1c.98410_98411dup (p.Leu32804PhefsTer?)
c.79495_79496dup (p.Leu26499PhefsTer?)
c.79294_79295dup (p.Leu26432PhefsTer?)
c.78919_78920dup (p.Leu26307PhefsTer?)
c.106114_106115dup (p.Leu35372PhefsTer?)
c.101191_101192dup (p.Leu33731PhefsTer?)
n.446+6864_446+6865dup
n.220-5232_220-5231dup
c.105211_105212dup (p.Leu35071PhefsTer?)
c.79105_79106dup (p.Leu26369PhefsTer?)
c.78964_78965dup (p.Leu26322PhefsTer?)
c.105007_105008dup (p.Leu35003PhefsTer?)
c.100405_100406dup (p.Leu33469PhefsTer?)
c.100402_100403dup (p.Leu33468PhefsTer?)
c.97444_97445dup (p.Leu32482PhefsTer?)
c.79060_79061dup (p.Leu26354PhefsTer?)
c.100555_100556dup (p.Leu33519PhefsTer?)
c.100552_100553dup (p.Leu33518PhefsTer?)
c.99985_99986dup (p.Leu33329PhefsTer?)
c.97327_97328dup (p.Leu32443PhefsTer?)
c.97246_97247dup (p.Leu32416PhefsTer?)
c.79009_79010dup (p.Leu26337PhefsTer?)
c.68863_68864dup (p.Leu22955PhefsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530501A>CCA349407005TTN,TTN-AS1c.98410T>G (p.Leu32804Val)
c.79495T>G (p.Leu26499Val)
c.79294T>G (p.Leu26432Val)
c.78919T>G (p.Leu26307Val)
c.106114T>G (p.Leu35372Val)
c.101191T>G (p.Leu33731Val)
n.446+6865A>C
n.220-5231A>C
c.105211T>G (p.Leu35071Val)
c.79105T>G (p.Leu26369Val)
c.78964T>G (p.Leu26322Val)
c.105007T>G (p.Leu35003Val)
c.100405T>G (p.Leu33469Val)
c.100402T>G (p.Leu33468Val)
c.97444T>G (p.Leu32482Val)
c.79060T>G (p.Leu26354Val)
c.100555T>G (p.Leu33519Val)
c.100552T>G (p.Leu33518Val)
c.99985T>G (p.Leu33329Val)
c.97327T>G (p.Leu32443Val)
c.97246T>G (p.Leu32416Val)
c.79009T>G (p.Leu26337Val)
c.68863T>G (p.Leu22955Val)
2g.178530501A>GCA430235095TTN,TTN-AS1c.98410T>C (p.Leu32804=)
c.79495T>C (p.Leu26499=)
c.79294T>C (p.Leu26432=)
c.78919T>C (p.Leu26307=)
c.106114T>C (p.Leu35372=)
c.101191T>C (p.Leu33731=)
n.446+6865A>G
n.220-5231A>G
c.105211T>C (p.Leu35071=)
c.79105T>C (p.Leu26369=)
c.78964T>C (p.Leu26322=)
c.105007T>C (p.Leu35003=)
c.100405T>C (p.Leu33469=)
c.100402T>C (p.Leu33468=)
c.97444T>C (p.Leu32482=)
c.79060T>C (p.Leu26354=)
c.100555T>C (p.Leu33519=)
c.100552T>C (p.Leu33518=)
c.99985T>C (p.Leu33329=)
c.97327T>C (p.Leu32443=)
c.97246T>C (p.Leu32416=)
c.79009T>C (p.Leu26337=)
c.68863T>C (p.Leu22955=)
2g.178530501A>TCA349407006TTN,TTN-AS1c.98410T>A (p.Leu32804Ile)
c.79495T>A (p.Leu26499Ile)
c.79294T>A (p.Leu26432Ile)
c.78919T>A (p.Leu26307Ile)
c.106114T>A (p.Leu35372Ile)
c.101191T>A (p.Leu33731Ile)
n.446+6865A>T
n.220-5231A>T
c.105211T>A (p.Leu35071Ile)
c.79105T>A (p.Leu26369Ile)
c.78964T>A (p.Leu26322Ile)
c.105007T>A (p.Leu35003Ile)
c.100405T>A (p.Leu33469Ile)
c.100402T>A (p.Leu33468Ile)
c.97444T>A (p.Leu32482Ile)
c.79060T>A (p.Leu26354Ile)
c.100555T>A (p.Leu33519Ile)
c.100552T>A (p.Leu33518Ile)
c.99985T>A (p.Leu33329Ile)
c.97327T>A (p.Leu32443Ile)
c.97246T>A (p.Leu32416Ile)
c.79009T>A (p.Leu26337Ile)
c.68863T>A (p.Leu22955Ile)
2g.178530502G>ACA430235096TTN,TTN-AS1c.98409C>T (p.Asn32803=)
c.79494C>T (p.Asn26498=)
c.79293C>T (p.Asn26431=)
c.78918C>T (p.Asn26306=)
c.106113C>T (p.Asn35371=)
c.101190C>T (p.Asn33730=)
n.446+6866G>A
n.220-5230G>A
c.105210C>T (p.Asn35070=)
c.79104C>T (p.Asn26368=)
c.78963C>T (p.Asn26321=)
c.105006C>T (p.Asn35002=)
c.100404C>T (p.Asn33468=)
c.100401C>T (p.Asn33467=)
c.97443C>T (p.Asn32481=)
c.79059C>T (p.Asn26353=)
c.100554C>T (p.Asn33518=)
c.100551C>T (p.Asn33517=)
c.99984C>T (p.Asn33328=)
c.97326C>T (p.Asn32442=)
c.97245C>T (p.Asn32415=)
c.79008C>T (p.Asn26336=)
c.68862C>T (p.Asn22954=)
2g.178530502G>CCA349407007TTN,TTN-AS1c.98409C>G (p.Asn32803Lys)
c.79494C>G (p.Asn26498Lys)
c.79293C>G (p.Asn26431Lys)
c.78918C>G (p.Asn26306Lys)
c.106113C>G (p.Asn35371Lys)
c.101190C>G (p.Asn33730Lys)
n.446+6866G>C
n.220-5230G>C
c.105210C>G (p.Asn35070Lys)
c.79104C>G (p.Asn26368Lys)
c.78963C>G (p.Asn26321Lys)
c.105006C>G (p.Asn35002Lys)
c.100404C>G (p.Asn33468Lys)
c.100401C>G (p.Asn33467Lys)
c.97443C>G (p.Asn32481Lys)
c.79059C>G (p.Asn26353Lys)
c.100554C>G (p.Asn33518Lys)
c.100551C>G (p.Asn33517Lys)
c.99984C>G (p.Asn33328Lys)
c.97326C>G (p.Asn32442Lys)
c.97245C>G (p.Asn32415Lys)
c.79008C>G (p.Asn26336Lys)
c.68862C>G (p.Asn22954Lys)
2g.178530502G>TCA349407008TTN,TTN-AS1c.98409C>A (p.Asn32803Lys)
c.79494C>A (p.Asn26498Lys)
c.79293C>A (p.Asn26431Lys)
c.78918C>A (p.Asn26306Lys)
c.106113C>A (p.Asn35371Lys)
c.101190C>A (p.Asn33730Lys)
n.446+6866G>T
n.220-5230G>T
c.105210C>A (p.Asn35070Lys)
c.79104C>A (p.Asn26368Lys)
c.78963C>A (p.Asn26321Lys)
c.105006C>A (p.Asn35002Lys)
c.100404C>A (p.Asn33468Lys)
c.100401C>A (p.Asn33467Lys)
c.97443C>A (p.Asn32481Lys)
c.79059C>A (p.Asn26353Lys)
c.100554C>A (p.Asn33518Lys)
c.100551C>A (p.Asn33517Lys)
c.99984C>A (p.Asn33328Lys)
c.97326C>A (p.Asn32442Lys)
c.97245C>A (p.Asn32415Lys)
c.79008C>A (p.Asn26336Lys)
c.68862C>A (p.Asn22954Lys)
2g.178530503T>ACA349407009TTN,TTN-AS1c.98408A>T (p.Asn32803Ile)
c.79493A>T (p.Asn26498Ile)
c.79292A>T (p.Asn26431Ile)
c.78917A>T (p.Asn26306Ile)
c.106112A>T (p.Asn35371Ile)
c.101189A>T (p.Asn33730Ile)
n.446+6867T>A
n.220-5229T>A
c.105209A>T (p.Asn35070Ile)
c.79103A>T (p.Asn26368Ile)
c.78962A>T (p.Asn26321Ile)
c.105005A>T (p.Asn35002Ile)
c.100403A>T (p.Asn33468Ile)
c.100400A>T (p.Asn33467Ile)
c.97442A>T (p.Asn32481Ile)
c.79058A>T (p.Asn26353Ile)
c.100553A>T (p.Asn33518Ile)
c.100550A>T (p.Asn33517Ile)
c.99983A>T (p.Asn33328Ile)
c.97325A>T (p.Asn32442Ile)
c.97244A>T (p.Asn32415Ile)
c.79007A>T (p.Asn26336Ile)
c.68861A>T (p.Asn22954Ile)
2g.178530503T>CCA349407010TTN,TTN-AS1c.98408A>G (p.Asn32803Ser)
c.79493A>G (p.Asn26498Ser)
c.79292A>G (p.Asn26431Ser)
c.78917A>G (p.Asn26306Ser)
c.106112A>G (p.Asn35371Ser)
c.101189A>G (p.Asn33730Ser)
n.446+6867T>C
n.220-5229T>C
c.105209A>G (p.Asn35070Ser)
c.79103A>G (p.Asn26368Ser)
c.78962A>G (p.Asn26321Ser)
c.105005A>G (p.Asn35002Ser)
c.100403A>G (p.Asn33468Ser)
c.100400A>G (p.Asn33467Ser)
c.97442A>G (p.Asn32481Ser)
c.79058A>G (p.Asn26353Ser)
c.100553A>G (p.Asn33518Ser)
c.100550A>G (p.Asn33517Ser)
c.99983A>G (p.Asn33328Ser)
c.97325A>G (p.Asn32442Ser)
c.97244A>G (p.Asn32415Ser)
c.79007A>G (p.Asn26336Ser)
c.68861A>G (p.Asn22954Ser)
 dbSNP gnomAD v2
2g.178530503T>GCA349407011TTN,TTN-AS1c.98408A>C (p.Asn32803Thr)
c.79493A>C (p.Asn26498Thr)
c.79292A>C (p.Asn26431Thr)
c.78917A>C (p.Asn26306Thr)
c.106112A>C (p.Asn35371Thr)
c.101189A>C (p.Asn33730Thr)
n.446+6867T>G
n.220-5229T>G
c.105209A>C (p.Asn35070Thr)
c.79103A>C (p.Asn26368Thr)
c.78962A>C (p.Asn26321Thr)
c.105005A>C (p.Asn35002Thr)
c.100403A>C (p.Asn33468Thr)
c.100400A>C (p.Asn33467Thr)
c.97442A>C (p.Asn32481Thr)
c.79058A>C (p.Asn26353Thr)
c.100553A>C (p.Asn33518Thr)
c.100550A>C (p.Asn33517Thr)
c.99983A>C (p.Asn33328Thr)
c.97325A>C (p.Asn32442Thr)
c.97244A>C (p.Asn32415Thr)
c.79007A>C (p.Asn26336Thr)
c.68861A>C (p.Asn22954Thr)
2g.178530503T=CA1310514697TTN,TTN-AS1c.98408A= (p.Asn32803=)
c.79493A= (p.Asn26498=)
c.79292A= (p.Asn26431=)
c.78917A= (p.Asn26306=)
c.106112A= (p.Asn35371=)
c.101189A= (p.Asn33730=)
n.446+6867T=
n.220-5229T=
c.105209A= (p.Asn35070=)
c.79103A= (p.Asn26368=)
c.78962A= (p.Asn26321=)
c.105005A= (p.Asn35002=)
c.100403A= (p.Asn33468=)
c.100400A= (p.Asn33467=)
c.97442A= (p.Asn32481=)
c.79058A= (p.Asn26353=)
c.100553A= (p.Asn33518=)
c.100550A= (p.Asn33517=)
c.99983A= (p.Asn33328=)
c.97325A= (p.Asn32442=)
c.97244A= (p.Asn32415=)
c.79007A= (p.Asn26336=)
c.68861A= (p.Asn22954=)
2g.178530504T>ACA349407012TTN,TTN-AS1c.98407A>T (p.Asn32803Tyr)
c.79492A>T (p.Asn26498Tyr)
c.79291A>T (p.Asn26431Tyr)
c.78916A>T (p.Asn26306Tyr)
c.106111A>T (p.Asn35371Tyr)
c.101188A>T (p.Asn33730Tyr)
n.446+6868T>A
n.220-5228T>A
c.105208A>T (p.Asn35070Tyr)
c.79102A>T (p.Asn26368Tyr)
c.78961A>T (p.Asn26321Tyr)
c.105004A>T (p.Asn35002Tyr)
c.100402A>T (p.Asn33468Tyr)
c.100399A>T (p.Asn33467Tyr)
c.97441A>T (p.Asn32481Tyr)
c.79057A>T (p.Asn26353Tyr)
c.100552A>T (p.Asn33518Tyr)
c.100549A>T (p.Asn33517Tyr)
c.99982A>T (p.Asn33328Tyr)
c.97324A>T (p.Asn32442Tyr)
c.97243A>T (p.Asn32415Tyr)
c.79006A>T (p.Asn26336Tyr)
c.68860A>T (p.Asn22954Tyr)
2g.178530504T>CCA349407013TTN,TTN-AS1c.98407A>G (p.Asn32803Asp)
c.79492A>G (p.Asn26498Asp)
c.79291A>G (p.Asn26431Asp)
c.78916A>G (p.Asn26306Asp)
c.106111A>G (p.Asn35371Asp)
c.101188A>G (p.Asn33730Asp)
n.446+6868T>C
n.220-5228T>C
c.105208A>G (p.Asn35070Asp)
c.79102A>G (p.Asn26368Asp)
c.78961A>G (p.Asn26321Asp)
c.105004A>G (p.Asn35002Asp)
c.100402A>G (p.Asn33468Asp)
c.100399A>G (p.Asn33467Asp)
c.97441A>G (p.Asn32481Asp)
c.79057A>G (p.Asn26353Asp)
c.100552A>G (p.Asn33518Asp)
c.100549A>G (p.Asn33517Asp)
c.99982A>G (p.Asn33328Asp)
c.97324A>G (p.Asn32442Asp)
c.97243A>G (p.Asn32415Asp)
c.79006A>G (p.Asn26336Asp)
c.68860A>G (p.Asn22954Asp)
 ClinVar
2g.178530504T>GCA349407014TTN,TTN-AS1c.98407A>C (p.Asn32803His)
c.79492A>C (p.Asn26498His)
c.79291A>C (p.Asn26431His)
c.78916A>C (p.Asn26306His)
c.106111A>C (p.Asn35371His)
c.101188A>C (p.Asn33730His)
n.446+6868T>G
n.220-5228T>G
c.105208A>C (p.Asn35070His)
c.79102A>C (p.Asn26368His)
c.78961A>C (p.Asn26321His)
c.105004A>C (p.Asn35002His)
c.100402A>C (p.Asn33468His)
c.100399A>C (p.Asn33467His)
c.97441A>C (p.Asn32481His)
c.79057A>C (p.Asn26353His)
c.100552A>C (p.Asn33518His)
c.100549A>C (p.Asn33517His)
c.99982A>C (p.Asn33328His)
c.97324A>C (p.Asn32442His)
c.97243A>C (p.Asn32415His)
c.79006A>C (p.Asn26336His)
c.68860A>C (p.Asn22954His)
2g.178530505G>ACA430235101TTN,TTN-AS1c.98406C>T (p.Thr32802=)
c.79491C>T (p.Thr26497=)
c.79290C>T (p.Thr26430=)
c.78915C>T (p.Thr26305=)
c.106110C>T (p.Thr35370=)
c.101187C>T (p.Thr33729=)
n.446+6869G>A
n.220-5227G>A
c.105207C>T (p.Thr35069=)
c.79101C>T (p.Thr26367=)
c.78960C>T (p.Thr26320=)
c.105003C>T (p.Thr35001=)
c.100401C>T (p.Thr33467=)
c.100398C>T (p.Thr33466=)
c.97440C>T (p.Thr32480=)
c.79056C>T (p.Thr26352=)
c.100551C>T (p.Thr33517=)
c.100548C>T (p.Thr33516=)
c.99981C>T (p.Thr33327=)
c.97323C>T (p.Thr32441=)
c.97242C>T (p.Thr32414=)
c.79005C>T (p.Thr26335=)
c.68859C>T (p.Thr22953=)
 dbSNP
2g.178530505G>CCA430235102TTN,TTN-AS1c.98406C>G (p.Thr32802=)
c.79491C>G (p.Thr26497=)
c.79290C>G (p.Thr26430=)
c.78915C>G (p.Thr26305=)
c.106110C>G (p.Thr35370=)
c.101187C>G (p.Thr33729=)
n.446+6869G>C
n.220-5227G>C
c.105207C>G (p.Thr35069=)
c.79101C>G (p.Thr26367=)
c.78960C>G (p.Thr26320=)
c.105003C>G (p.Thr35001=)
c.100401C>G (p.Thr33467=)
c.100398C>G (p.Thr33466=)
c.97440C>G (p.Thr32480=)
c.79056C>G (p.Thr26352=)
c.100551C>G (p.Thr33517=)
c.100548C>G (p.Thr33516=)
c.99981C>G (p.Thr33327=)
c.97323C>G (p.Thr32441=)
c.97242C>G (p.Thr32414=)
c.79005C>G (p.Thr26335=)
c.68859C>G (p.Thr22953=)
2g.178530505G>TCA430235103TTN,TTN-AS1c.98406C>A (p.Thr32802=)
c.79491C>A (p.Thr26497=)
c.79290C>A (p.Thr26430=)
c.78915C>A (p.Thr26305=)
c.106110C>A (p.Thr35370=)
c.101187C>A (p.Thr33729=)
n.446+6869G>T
n.220-5227G>T
c.105207C>A (p.Thr35069=)
c.79101C>A (p.Thr26367=)
c.78960C>A (p.Thr26320=)
c.105003C>A (p.Thr35001=)
c.100401C>A (p.Thr33467=)
c.100398C>A (p.Thr33466=)
c.97440C>A (p.Thr32480=)
c.79056C>A (p.Thr26352=)
c.100551C>A (p.Thr33517=)
c.100548C>A (p.Thr33516=)
c.99981C>A (p.Thr33327=)
c.97323C>A (p.Thr32441=)
c.97242C>A (p.Thr32414=)
c.79005C>A (p.Thr26335=)
c.68859C>A (p.Thr22953=)
2g.178530506G>ACA349407015TTN,TTN-AS1c.98405C>T (p.Thr32802Ile)
c.79490C>T (p.Thr26497Ile)
c.79289C>T (p.Thr26430Ile)
c.78914C>T (p.Thr26305Ile)
c.106109C>T (p.Thr35370Ile)
c.101186C>T (p.Thr33729Ile)
n.446+6870G>A
n.220-5226G>A
c.105206C>T (p.Thr35069Ile)
c.79100C>T (p.Thr26367Ile)
c.78959C>T (p.Thr26320Ile)
c.105002C>T (p.Thr35001Ile)
c.100400C>T (p.Thr33467Ile)
c.100397C>T (p.Thr33466Ile)
c.97439C>T (p.Thr32480Ile)
c.79055C>T (p.Thr26352Ile)
c.100550C>T (p.Thr33517Ile)
c.100547C>T (p.Thr33516Ile)
c.99980C>T (p.Thr33327Ile)
c.97322C>T (p.Thr32441Ile)
c.97241C>T (p.Thr32414Ile)
c.79004C>T (p.Thr26335Ile)
c.68858C>T (p.Thr22953Ile)
 gnomAD v4
2g.178530506G>CCA349407016TTN,TTN-AS1c.98405C>G (p.Thr32802Ser)
c.79490C>G (p.Thr26497Ser)
c.79289C>G (p.Thr26430Ser)
c.78914C>G (p.Thr26305Ser)
c.106109C>G (p.Thr35370Ser)
c.101186C>G (p.Thr33729Ser)
n.446+6870G>C
n.220-5226G>C
c.105206C>G (p.Thr35069Ser)
c.79100C>G (p.Thr26367Ser)
c.78959C>G (p.Thr26320Ser)
c.105002C>G (p.Thr35001Ser)
c.100400C>G (p.Thr33467Ser)
c.100397C>G (p.Thr33466Ser)
c.97439C>G (p.Thr32480Ser)
c.79055C>G (p.Thr26352Ser)
c.100550C>G (p.Thr33517Ser)
c.100547C>G (p.Thr33516Ser)
c.99980C>G (p.Thr33327Ser)
c.97322C>G (p.Thr32441Ser)
c.97241C>G (p.Thr32414Ser)
c.79004C>G (p.Thr26335Ser)
c.68858C>G (p.Thr22953Ser)
 dbSNP
2g.178530506G=CA1310514699TTN,TTN-AS1c.98405C= (p.Thr32802=)
c.79490C= (p.Thr26497=)
c.79289C= (p.Thr26430=)
c.78914C= (p.Thr26305=)
c.106109C= (p.Thr35370=)
c.101186C= (p.Thr33729=)
n.446+6870G=
n.220-5226G=
c.105206C= (p.Thr35069=)
c.79100C= (p.Thr26367=)
c.78959C= (p.Thr26320=)
c.105002C= (p.Thr35001=)
c.100400C= (p.Thr33467=)
c.100397C= (p.Thr33466=)
c.97439C= (p.Thr32480=)
c.79055C= (p.Thr26352=)
c.100550C= (p.Thr33517=)
c.100547C= (p.Thr33516=)
c.99980C= (p.Thr33327=)
c.97322C= (p.Thr32441=)
c.97241C= (p.Thr32414=)
c.79004C= (p.Thr26335=)
c.68858C= (p.Thr22953=)
2g.178530506G>TCA60953420TTN,TTN-AS1c.98405C>A (p.Thr32802Asn)
c.79490C>A (p.Thr26497Asn)
c.79289C>A (p.Thr26430Asn)
c.78914C>A (p.Thr26305Asn)
c.106109C>A (p.Thr35370Asn)
c.101186C>A (p.Thr33729Asn)
n.446+6870G>T
n.220-5226G>T
c.105206C>A (p.Thr35069Asn)
c.79100C>A (p.Thr26367Asn)
c.78959C>A (p.Thr26320Asn)
c.105002C>A (p.Thr35001Asn)
c.100400C>A (p.Thr33467Asn)
c.100397C>A (p.Thr33466Asn)
c.97439C>A (p.Thr32480Asn)
c.79055C>A (p.Thr26352Asn)
c.100550C>A (p.Thr33517Asn)
c.100547C>A (p.Thr33516Asn)
c.99980C>A (p.Thr33327Asn)
c.97322C>A (p.Thr32441Asn)
c.97241C>A (p.Thr32414Asn)
c.79004C>A (p.Thr26335Asn)
c.68858C>A (p.Thr22953Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178530507T>ACA349407018TTN,TTN-AS1c.98404A>T (p.Thr32802Ser)
c.79489A>T (p.Thr26497Ser)
c.79288A>T (p.Thr26430Ser)
c.78913A>T (p.Thr26305Ser)
c.106108A>T (p.Thr35370Ser)
c.101185A>T (p.Thr33729Ser)
n.446+6871T>A
n.220-5225T>A
c.105205A>T (p.Thr35069Ser)
c.79099A>T (p.Thr26367Ser)
c.78958A>T (p.Thr26320Ser)
c.105001A>T (p.Thr35001Ser)
c.100399A>T (p.Thr33467Ser)
c.100396A>T (p.Thr33466Ser)
c.97438A>T (p.Thr32480Ser)
c.79054A>T (p.Thr26352Ser)
c.100549A>T (p.Thr33517Ser)
c.100546A>T (p.Thr33516Ser)
c.99979A>T (p.Thr33327Ser)
c.97321A>T (p.Thr32441Ser)
c.97240A>T (p.Thr32414Ser)
c.79003A>T (p.Thr26335Ser)
c.68857A>T (p.Thr22953Ser)
2g.178530507T>CCA60953427TTN,TTN-AS1c.98404A>G (p.Thr32802Ala)
c.79489A>G (p.Thr26497Ala)
c.79288A>G (p.Thr26430Ala)
c.78913A>G (p.Thr26305Ala)
c.106108A>G (p.Thr35370Ala)
c.101185A>G (p.Thr33729Ala)
n.446+6871T>C
n.220-5225T>C
c.105205A>G (p.Thr35069Ala)
c.79099A>G (p.Thr26367Ala)
c.78958A>G (p.Thr26320Ala)
c.105001A>G (p.Thr35001Ala)
c.100399A>G (p.Thr33467Ala)
c.100396A>G (p.Thr33466Ala)
c.97438A>G (p.Thr32480Ala)
c.79054A>G (p.Thr26352Ala)
c.100549A>G (p.Thr33517Ala)
c.100546A>G (p.Thr33516Ala)
c.99979A>G (p.Thr33327Ala)
c.97321A>G (p.Thr32441Ala)
c.97240A>G (p.Thr32414Ala)
c.79003A>G (p.Thr26335Ala)
c.68857A>G (p.Thr22953Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530507T>GCA349407017TTN,TTN-AS1c.98404A>C (p.Thr32802Pro)
c.79489A>C (p.Thr26497Pro)
c.79288A>C (p.Thr26430Pro)
c.78913A>C (p.Thr26305Pro)
c.106108A>C (p.Thr35370Pro)
c.101185A>C (p.Thr33729Pro)
n.446+6871T>G
n.220-5225T>G
c.105205A>C (p.Thr35069Pro)
c.79099A>C (p.Thr26367Pro)
c.78958A>C (p.Thr26320Pro)
c.105001A>C (p.Thr35001Pro)
c.100399A>C (p.Thr33467Pro)
c.100396A>C (p.Thr33466Pro)
c.97438A>C (p.Thr32480Pro)
c.79054A>C (p.Thr26352Pro)
c.100549A>C (p.Thr33517Pro)
c.100546A>C (p.Thr33516Pro)
c.99979A>C (p.Thr33327Pro)
c.97321A>C (p.Thr32441Pro)
c.97240A>C (p.Thr32414Pro)
c.79003A>C (p.Thr26335Pro)
c.68857A>C (p.Thr22953Pro)
 dbSNP
2g.178530507T=CA1310514701TTN,TTN-AS1c.98404A= (p.Thr32802=)
c.79489A= (p.Thr26497=)
c.79288A= (p.Thr26430=)
c.78913A= (p.Thr26305=)
c.106108A= (p.Thr35370=)
c.101185A= (p.Thr33729=)
n.446+6871T=
n.220-5225T=
c.105205A= (p.Thr35069=)
c.79099A= (p.Thr26367=)
c.78958A= (p.Thr26320=)
c.105001A= (p.Thr35001=)
c.100399A= (p.Thr33467=)
c.100396A= (p.Thr33466=)
c.97438A= (p.Thr32480=)
c.79054A= (p.Thr26352=)
c.100549A= (p.Thr33517=)
c.100546A= (p.Thr33516=)
c.99979A= (p.Thr33327=)
c.97321A= (p.Thr32441=)
c.97240A= (p.Thr32414=)
c.79003A= (p.Thr26335=)
c.68857A= (p.Thr22953=)
2g.178530508T>ACA349407019TTN,TTN-AS1c.98403A>T (p.Lys32801Asn)
c.79488A>T (p.Lys26496Asn)
c.79287A>T (p.Lys26429Asn)
c.78912A>T (p.Lys26304Asn)
c.106107A>T (p.Lys35369Asn)
c.101184A>T (p.Lys33728Asn)
n.446+6872T>A
n.220-5224T>A
c.105204A>T (p.Lys35068Asn)
c.79098A>T (p.Lys26366Asn)
c.78957A>T (p.Lys26319Asn)
c.105000A>T (p.Lys35000Asn)
c.100398A>T (p.Lys33466Asn)
c.100395A>T (p.Lys33465Asn)
c.97437A>T (p.Lys32479Asn)
c.79053A>T (p.Lys26351Asn)
c.100548A>T (p.Lys33516Asn)
c.100545A>T (p.Lys33515Asn)
c.99978A>T (p.Lys33326Asn)
c.97320A>T (p.Lys32440Asn)
c.97239A>T (p.Lys32413Asn)
c.79002A>T (p.Lys26334Asn)
c.68856A>T (p.Lys22952Asn)
2g.178530508T>CCA430235110TTN,TTN-AS1c.98403A>G (p.Lys32801=)
c.79488A>G (p.Lys26496=)
c.79287A>G (p.Lys26429=)
c.78912A>G (p.Lys26304=)
c.106107A>G (p.Lys35369=)
c.101184A>G (p.Lys33728=)
n.446+6872T>C
n.220-5224T>C
c.105204A>G (p.Lys35068=)
c.79098A>G (p.Lys26366=)
c.78957A>G (p.Lys26319=)
c.105000A>G (p.Lys35000=)
c.100398A>G (p.Lys33466=)
c.100395A>G (p.Lys33465=)
c.97437A>G (p.Lys32479=)
c.79053A>G (p.Lys26351=)
c.100548A>G (p.Lys33516=)
c.100545A>G (p.Lys33515=)
c.99978A>G (p.Lys33326=)
c.97320A>G (p.Lys32440=)
c.97239A>G (p.Lys32413=)
c.79002A>G (p.Lys26334=)
c.68856A>G (p.Lys22952=)
2g.178530508T>GCA349407020TTN,TTN-AS1c.98403A>C (p.Lys32801Asn)
c.79488A>C (p.Lys26496Asn)
c.79287A>C (p.Lys26429Asn)
c.78912A>C (p.Lys26304Asn)
c.106107A>C (p.Lys35369Asn)
c.101184A>C (p.Lys33728Asn)
n.446+6872T>G
n.220-5224T>G
c.105204A>C (p.Lys35068Asn)
c.79098A>C (p.Lys26366Asn)
c.78957A>C (p.Lys26319Asn)
c.105000A>C (p.Lys35000Asn)
c.100398A>C (p.Lys33466Asn)
c.100395A>C (p.Lys33465Asn)
c.97437A>C (p.Lys32479Asn)
c.79053A>C (p.Lys26351Asn)
c.100548A>C (p.Lys33516Asn)
c.100545A>C (p.Lys33515Asn)
c.99978A>C (p.Lys33326Asn)
c.97320A>C (p.Lys32440Asn)
c.97239A>C (p.Lys32413Asn)
c.79002A>C (p.Lys26334Asn)
c.68856A>C (p.Lys22952Asn)
2g.178530509T>ACA349407021TTN,TTN-AS1c.98402A>T (p.Lys32801Ile)
c.79487A>T (p.Lys26496Ile)
c.79286A>T (p.Lys26429Ile)
c.78911A>T (p.Lys26304Ile)
c.106106A>T (p.Lys35369Ile)
c.101183A>T (p.Lys33728Ile)
n.446+6873T>A
n.220-5223T>A
c.105203A>T (p.Lys35068Ile)
c.79097A>T (p.Lys26366Ile)
c.78956A>T (p.Lys26319Ile)
c.104999A>T (p.Lys35000Ile)
c.100397A>T (p.Lys33466Ile)
c.100394A>T (p.Lys33465Ile)
c.97436A>T (p.Lys32479Ile)
c.79052A>T (p.Lys26351Ile)
c.100547A>T (p.Lys33516Ile)
c.100544A>T (p.Lys33515Ile)
c.99977A>T (p.Lys33326Ile)
c.97319A>T (p.Lys32440Ile)
c.97238A>T (p.Lys32413Ile)
c.79001A>T (p.Lys26334Ile)
c.68855A>T (p.Lys22952Ile)
2g.178530509T>CCA349407022TTN,TTN-AS1c.98402A>G (p.Lys32801Arg)
c.79487A>G (p.Lys26496Arg)
c.79286A>G (p.Lys26429Arg)
c.78911A>G (p.Lys26304Arg)
c.106106A>G (p.Lys35369Arg)
c.101183A>G (p.Lys33728Arg)
n.446+6873T>C
n.220-5223T>C
c.105203A>G (p.Lys35068Arg)
c.79097A>G (p.Lys26366Arg)
c.78956A>G (p.Lys26319Arg)
c.104999A>G (p.Lys35000Arg)
c.100397A>G (p.Lys33466Arg)
c.100394A>G (p.Lys33465Arg)
c.97436A>G (p.Lys32479Arg)
c.79052A>G (p.Lys26351Arg)
c.100547A>G (p.Lys33516Arg)
c.100544A>G (p.Lys33515Arg)
c.99977A>G (p.Lys33326Arg)
c.97319A>G (p.Lys32440Arg)
c.97238A>G (p.Lys32413Arg)
c.79001A>G (p.Lys26334Arg)
c.68855A>G (p.Lys22952Arg)
2g.178530509T>GCA349407023TTN,TTN-AS1c.98402A>C (p.Lys32801Thr)
c.79487A>C (p.Lys26496Thr)
c.79286A>C (p.Lys26429Thr)
c.78911A>C (p.Lys26304Thr)
c.106106A>C (p.Lys35369Thr)
c.101183A>C (p.Lys33728Thr)
n.446+6873T>G
n.220-5223T>G
c.105203A>C (p.Lys35068Thr)
c.79097A>C (p.Lys26366Thr)
c.78956A>C (p.Lys26319Thr)
c.104999A>C (p.Lys35000Thr)
c.100397A>C (p.Lys33466Thr)
c.100394A>C (p.Lys33465Thr)
c.97436A>C (p.Lys32479Thr)
c.79052A>C (p.Lys26351Thr)
c.100547A>C (p.Lys33516Thr)
c.100544A>C (p.Lys33515Thr)
c.99977A>C (p.Lys33326Thr)
c.97319A>C (p.Lys32440Thr)
c.97238A>C (p.Lys32413Thr)
c.79001A>C (p.Lys26334Thr)
c.68855A>C (p.Lys22952Thr)
2g.178530510T>ACA349407024TTN,TTN-AS1c.98401A>T (p.Lys32801Ter)
c.79486A>T (p.Lys26496Ter)
c.79285A>T (p.Lys26429Ter)
c.78910A>T (p.Lys26304Ter)
c.106105A>T (p.Lys35369Ter)
c.101182A>T (p.Lys33728Ter)
n.446+6874T>A
n.220-5222T>A
c.105202A>T (p.Lys35068Ter)
c.79096A>T (p.Lys26366Ter)
c.78955A>T (p.Lys26319Ter)
c.104998A>T (p.Lys35000Ter)
c.100396A>T (p.Lys33466Ter)
c.100393A>T (p.Lys33465Ter)
c.97435A>T (p.Lys32479Ter)
c.79051A>T (p.Lys26351Ter)
c.100546A>T (p.Lys33516Ter)
c.100543A>T (p.Lys33515Ter)
c.99976A>T (p.Lys33326Ter)
c.97318A>T (p.Lys32440Ter)
c.97237A>T (p.Lys32413Ter)
c.79000A>T (p.Lys26334Ter)
c.68854A>T (p.Lys22952Ter)
2g.178530510T>CCA349407025TTN,TTN-AS1c.98401A>G (p.Lys32801Glu)
c.79486A>G (p.Lys26496Glu)
c.79285A>G (p.Lys26429Glu)
c.78910A>G (p.Lys26304Glu)
c.106105A>G (p.Lys35369Glu)
c.101182A>G (p.Lys33728Glu)
n.446+6874T>C
n.220-5222T>C
c.105202A>G (p.Lys35068Glu)
c.79096A>G (p.Lys26366Glu)
c.78955A>G (p.Lys26319Glu)
c.104998A>G (p.Lys35000Glu)
c.100396A>G (p.Lys33466Glu)
c.100393A>G (p.Lys33465Glu)
c.97435A>G (p.Lys32479Glu)
c.79051A>G (p.Lys26351Glu)
c.100546A>G (p.Lys33516Glu)
c.100543A>G (p.Lys33515Glu)
c.99976A>G (p.Lys33326Glu)
c.97318A>G (p.Lys32440Glu)
c.97237A>G (p.Lys32413Glu)
c.79000A>G (p.Lys26334Glu)
c.68854A>G (p.Lys22952Glu)
2g.178530510T>GCA349407026TTN,TTN-AS1c.98401A>C (p.Lys32801Gln)
c.79486A>C (p.Lys26496Gln)
c.79285A>C (p.Lys26429Gln)
c.78910A>C (p.Lys26304Gln)
c.106105A>C (p.Lys35369Gln)
c.101182A>C (p.Lys33728Gln)
n.446+6874T>G
n.220-5222T>G
c.105202A>C (p.Lys35068Gln)
c.79096A>C (p.Lys26366Gln)
c.78955A>C (p.Lys26319Gln)
c.104998A>C (p.Lys35000Gln)
c.100396A>C (p.Lys33466Gln)
c.100393A>C (p.Lys33465Gln)
c.97435A>C (p.Lys32479Gln)
c.79051A>C (p.Lys26351Gln)
c.100546A>C (p.Lys33516Gln)
c.100543A>C (p.Lys33515Gln)
c.99976A>C (p.Lys33326Gln)
c.97318A>C (p.Lys32440Gln)
c.97237A>C (p.Lys32413Gln)
c.79000A>C (p.Lys26334Gln)
c.68854A>C (p.Lys22952Gln)
2g.178530511A=CA1310514702TTN,TTN-AS1c.98400T= (p.Ser32800=)
c.79485T= (p.Ser26495=)
c.79284T= (p.Ser26428=)
c.78909T= (p.Ser26303=)
c.106104T= (p.Ser35368=)
c.101181T= (p.Ser33727=)
n.446+6875A=
n.220-5221A=
c.105201T= (p.Ser35067=)
c.79095T= (p.Ser26365=)
c.78954T= (p.Ser26318=)
c.104997T= (p.Ser34999=)
c.100395T= (p.Ser33465=)
c.100392T= (p.Ser33464=)
c.97434T= (p.Ser32478=)
c.79050T= (p.Ser26350=)
c.100545T= (p.Ser33515=)
c.100542T= (p.Ser33514=)
c.99975T= (p.Ser33325=)
c.97317T= (p.Ser32439=)
c.97236T= (p.Ser32412=)
c.78999T= (p.Ser26333=)
c.68853T= (p.Ser22951=)
2g.178530511A>CCA430235115TTN,TTN-AS1c.98400T>G (p.Ser32800=)
c.79485T>G (p.Ser26495=)
c.79284T>G (p.Ser26428=)
c.78909T>G (p.Ser26303=)
c.106104T>G (p.Ser35368=)
c.101181T>G (p.Ser33727=)
n.446+6875A>C
n.220-5221A>C
c.105201T>G (p.Ser35067=)
c.79095T>G (p.Ser26365=)
c.78954T>G (p.Ser26318=)
c.104997T>G (p.Ser34999=)
c.100395T>G (p.Ser33465=)
c.100392T>G (p.Ser33464=)
c.97434T>G (p.Ser32478=)
c.79050T>G (p.Ser26350=)
c.100545T>G (p.Ser33515=)
c.100542T>G (p.Ser33514=)
c.99975T>G (p.Ser33325=)
c.97317T>G (p.Ser32439=)
c.97236T>G (p.Ser32412=)
c.78999T>G (p.Ser26333=)
c.68853T>G (p.Ser22951=)
2g.178530511A>GCA430235116TTN,TTN-AS1c.98400T>C (p.Ser32800=)
c.79485T>C (p.Ser26495=)
c.79284T>C (p.Ser26428=)
c.78909T>C (p.Ser26303=)
c.106104T>C (p.Ser35368=)
c.101181T>C (p.Ser33727=)
n.446+6875A>G
n.220-5221A>G
c.105201T>C (p.Ser35067=)
c.79095T>C (p.Ser26365=)
c.78954T>C (p.Ser26318=)
c.104997T>C (p.Ser34999=)
c.100395T>C (p.Ser33465=)
c.100392T>C (p.Ser33464=)
c.97434T>C (p.Ser32478=)
c.79050T>C (p.Ser26350=)
c.100545T>C (p.Ser33515=)
c.100542T>C (p.Ser33514=)
c.99975T>C (p.Ser33325=)
c.97317T>C (p.Ser32439=)
c.97236T>C (p.Ser32412=)
c.78999T>C (p.Ser26333=)
c.68853T>C (p.Ser22951=)
 dbSNP
2g.178530511A>TCA430235117TTN,TTN-AS1c.98400T>A (p.Ser32800=)
c.79485T>A (p.Ser26495=)
c.79284T>A (p.Ser26428=)
c.78909T>A (p.Ser26303=)
c.106104T>A (p.Ser35368=)
c.101181T>A (p.Ser33727=)
n.446+6875A>T
n.220-5221A>T
c.105201T>A (p.Ser35067=)
c.79095T>A (p.Ser26365=)
c.78954T>A (p.Ser26318=)
c.104997T>A (p.Ser34999=)
c.100395T>A (p.Ser33465=)
c.100392T>A (p.Ser33464=)
c.97434T>A (p.Ser32478=)
c.79050T>A (p.Ser26350=)
c.100545T>A (p.Ser33515=)
c.100542T>A (p.Ser33514=)
c.99975T>A (p.Ser33325=)
c.97317T>A (p.Ser32439=)
c.97236T>A (p.Ser32412=)
c.78999T>A (p.Ser26333=)
c.68853T>A (p.Ser22951=)
 dbSNP
2g.178530512G>ACA349407027TTN,TTN-AS1c.98399C>T (p.Ser32800Phe)
c.79484C>T (p.Ser26495Phe)
c.79283C>T (p.Ser26428Phe)
c.78908C>T (p.Ser26303Phe)
c.106103C>T (p.Ser35368Phe)
c.101180C>T (p.Ser33727Phe)
n.446+6876G>A
n.220-5220G>A
c.105200C>T (p.Ser35067Phe)
c.79094C>T (p.Ser26365Phe)
c.78953C>T (p.Ser26318Phe)
c.104996C>T (p.Ser34999Phe)
c.100394C>T (p.Ser33465Phe)
c.100391C>T (p.Ser33464Phe)
c.97433C>T (p.Ser32478Phe)
c.79049C>T (p.Ser26350Phe)
c.100544C>T (p.Ser33515Phe)
c.100541C>T (p.Ser33514Phe)
c.99974C>T (p.Ser33325Phe)
c.97316C>T (p.Ser32439Phe)
c.97235C>T (p.Ser32412Phe)
c.78998C>T (p.Ser26333Phe)
c.68852C>T (p.Ser22951Phe)
 dbSNP
2g.178530512G>CCA349407028TTN,TTN-AS1c.98399C>G (p.Ser32800Cys)
c.79484C>G (p.Ser26495Cys)
c.79283C>G (p.Ser26428Cys)
c.78908C>G (p.Ser26303Cys)
c.106103C>G (p.Ser35368Cys)
c.101180C>G (p.Ser33727Cys)
n.446+6876G>C
n.220-5220G>C
c.105200C>G (p.Ser35067Cys)
c.79094C>G (p.Ser26365Cys)
c.78953C>G (p.Ser26318Cys)
c.104996C>G (p.Ser34999Cys)
c.100394C>G (p.Ser33465Cys)
c.100391C>G (p.Ser33464Cys)
c.97433C>G (p.Ser32478Cys)
c.79049C>G (p.Ser26350Cys)
c.100544C>G (p.Ser33515Cys)
c.100541C>G (p.Ser33514Cys)
c.99974C>G (p.Ser33325Cys)
c.97316C>G (p.Ser32439Cys)
c.97235C>G (p.Ser32412Cys)
c.78998C>G (p.Ser26333Cys)
c.68852C>G (p.Ser22951Cys)
 ClinVar
2g.178530512G=CA1310514703TTN,TTN-AS1c.98399C= (p.Ser32800=)
c.79484C= (p.Ser26495=)
c.79283C= (p.Ser26428=)
c.78908C= (p.Ser26303=)
c.106103C= (p.Ser35368=)
c.101180C= (p.Ser33727=)
n.446+6876G=
n.220-5220G=
c.105200C= (p.Ser35067=)
c.79094C= (p.Ser26365=)
c.78953C= (p.Ser26318=)
c.104996C= (p.Ser34999=)
c.100394C= (p.Ser33465=)
c.100391C= (p.Ser33464=)
c.97433C= (p.Ser32478=)
c.79049C= (p.Ser26350=)
c.100544C= (p.Ser33515=)
c.100541C= (p.Ser33514=)
c.99974C= (p.Ser33325=)
c.97316C= (p.Ser32439=)
c.97235C= (p.Ser32412=)
c.78998C= (p.Ser26333=)
c.68852C= (p.Ser22951=)
2g.178530512G>TCA349407029TTN,TTN-AS1c.98399C>A (p.Ser32800Tyr)
c.79484C>A (p.Ser26495Tyr)
c.79283C>A (p.Ser26428Tyr)
c.78908C>A (p.Ser26303Tyr)
c.106103C>A (p.Ser35368Tyr)
c.101180C>A (p.Ser33727Tyr)
n.446+6876G>T
n.220-5220G>T
c.105200C>A (p.Ser35067Tyr)
c.79094C>A (p.Ser26365Tyr)
c.78953C>A (p.Ser26318Tyr)
c.104996C>A (p.Ser34999Tyr)
c.100394C>A (p.Ser33465Tyr)
c.100391C>A (p.Ser33464Tyr)
c.97433C>A (p.Ser32478Tyr)
c.79049C>A (p.Ser26350Tyr)
c.100544C>A (p.Ser33515Tyr)
c.100541C>A (p.Ser33514Tyr)
c.99974C>A (p.Ser33325Tyr)
c.97316C>A (p.Ser32439Tyr)
c.97235C>A (p.Ser32412Tyr)
c.78998C>A (p.Ser26333Tyr)
c.68852C>A (p.Ser22951Tyr)
2g.178530513A=CA1310514705TTN,TTN-AS1c.98398T= (p.Ser32800=)
c.79483T= (p.Ser26495=)
c.79282T= (p.Ser26428=)
c.78907T= (p.Ser26303=)
c.106102T= (p.Ser35368=)
c.101179T= (p.Ser33727=)
n.446+6877A=
n.220-5219A=
c.105199T= (p.Ser35067=)
c.79093T= (p.Ser26365=)
c.78952T= (p.Ser26318=)
c.104995T= (p.Ser34999=)
c.100393T= (p.Ser33465=)
c.100390T= (p.Ser33464=)
c.97432T= (p.Ser32478=)
c.79048T= (p.Ser26350=)
c.100543T= (p.Ser33515=)
c.100540T= (p.Ser33514=)
c.99973T= (p.Ser33325=)
c.97315T= (p.Ser32439=)
c.97234T= (p.Ser32412=)
c.78997T= (p.Ser26333=)
c.68851T= (p.Ser22951=)
2g.178530513A>CCA349407030TTN,TTN-AS1c.98398T>G (p.Ser32800Ala)
c.79483T>G (p.Ser26495Ala)
c.79282T>G (p.Ser26428Ala)
c.78907T>G (p.Ser26303Ala)
c.106102T>G (p.Ser35368Ala)
c.101179T>G (p.Ser33727Ala)
n.446+6877A>C
n.220-5219A>C
c.105199T>G (p.Ser35067Ala)
c.79093T>G (p.Ser26365Ala)
c.78952T>G (p.Ser26318Ala)
c.104995T>G (p.Ser34999Ala)
c.100393T>G (p.Ser33465Ala)
c.100390T>G (p.Ser33464Ala)
c.97432T>G (p.Ser32478Ala)
c.79048T>G (p.Ser26350Ala)
c.100543T>G (p.Ser33515Ala)
c.100540T>G (p.Ser33514Ala)
c.99973T>G (p.Ser33325Ala)
c.97315T>G (p.Ser32439Ala)
c.97234T>G (p.Ser32412Ala)
c.78997T>G (p.Ser26333Ala)
c.68851T>G (p.Ser22951Ala)
2g.178530513A>GCA349407031TTN,TTN-AS1c.98398T>C (p.Ser32800Pro)
c.79483T>C (p.Ser26495Pro)
c.79282T>C (p.Ser26428Pro)
c.78907T>C (p.Ser26303Pro)
c.106102T>C (p.Ser35368Pro)
c.101179T>C (p.Ser33727Pro)
n.446+6877A>G
n.220-5219A>G
c.105199T>C (p.Ser35067Pro)
c.79093T>C (p.Ser26365Pro)
c.78952T>C (p.Ser26318Pro)
c.104995T>C (p.Ser34999Pro)
c.100393T>C (p.Ser33465Pro)
c.100390T>C (p.Ser33464Pro)
c.97432T>C (p.Ser32478Pro)
c.79048T>C (p.Ser26350Pro)
c.100543T>C (p.Ser33515Pro)
c.100540T>C (p.Ser33514Pro)
c.99973T>C (p.Ser33325Pro)
c.97315T>C (p.Ser32439Pro)
c.97234T>C (p.Ser32412Pro)
c.78997T>C (p.Ser26333Pro)
c.68851T>C (p.Ser22951Pro)
 ClinVar dbSNP
2g.178530513A>TCA349407032TTN,TTN-AS1c.98398T>A (p.Ser32800Thr)
c.79483T>A (p.Ser26495Thr)
c.79282T>A (p.Ser26428Thr)
c.78907T>A (p.Ser26303Thr)
c.106102T>A (p.Ser35368Thr)
c.101179T>A (p.Ser33727Thr)
n.446+6877A>T
n.220-5219A>T
c.105199T>A (p.Ser35067Thr)
c.79093T>A (p.Ser26365Thr)
c.78952T>A (p.Ser26318Thr)
c.104995T>A (p.Ser34999Thr)
c.100393T>A (p.Ser33465Thr)
c.100390T>A (p.Ser33464Thr)
c.97432T>A (p.Ser32478Thr)
c.79048T>A (p.Ser26350Thr)
c.100543T>A (p.Ser33515Thr)
c.100540T>A (p.Ser33514Thr)
c.99973T>A (p.Ser33325Thr)
c.97315T>A (p.Ser32439Thr)
c.97234T>A (p.Ser32412Thr)
c.78997T>A (p.Ser26333Thr)
c.68851T>A (p.Ser22951Thr)
2g.178530514C>ACA430235120TTN,TTN-AS1c.98397G>T (p.Thr32799=)
c.79482G>T (p.Thr26494=)
c.79281G>T (p.Thr26427=)
c.78906G>T (p.Thr26302=)
c.106101G>T (p.Thr35367=)
c.101178G>T (p.Thr33726=)
n.446+6878C>A
n.220-5218C>A
c.105198G>T (p.Thr35066=)
c.79092G>T (p.Thr26364=)
c.78951G>T (p.Thr26317=)
c.104994G>T (p.Thr34998=)
c.100392G>T (p.Thr33464=)
c.100389G>T (p.Thr33463=)
c.97431G>T (p.Thr32477=)
c.79047G>T (p.Thr26349=)
c.100542G>T (p.Thr33514=)
c.100539G>T (p.Thr33513=)
c.99972G>T (p.Thr33324=)
c.97314G>T (p.Thr32438=)
c.97233G>T (p.Thr32411=)
c.78996G>T (p.Thr26332=)
c.68850G>T (p.Thr22950=)
 dbSNP
2g.178530514C=CA1310514706TTN,TTN-AS1c.98397G= (p.Thr32799=)
c.79482G= (p.Thr26494=)
c.79281G= (p.Thr26427=)
c.78906G= (p.Thr26302=)
c.106101G= (p.Thr35367=)
c.101178G= (p.Thr33726=)
n.446+6878C=
n.220-5218C=
c.105198G= (p.Thr35066=)
c.79092G= (p.Thr26364=)
c.78951G= (p.Thr26317=)
c.104994G= (p.Thr34998=)
c.100392G= (p.Thr33464=)
c.100389G= (p.Thr33463=)
c.97431G= (p.Thr32477=)
c.79047G= (p.Thr26349=)
c.100542G= (p.Thr33514=)
c.100539G= (p.Thr33513=)
c.99972G= (p.Thr33324=)
c.97314G= (p.Thr32438=)
c.97233G= (p.Thr32411=)
c.78996G= (p.Thr26332=)
c.68850G= (p.Thr22950=)
2g.178530514C>GCA430235121TTN,TTN-AS1c.98397G>C (p.Thr32799=)
c.79482G>C (p.Thr26494=)
c.79281G>C (p.Thr26427=)
c.78906G>C (p.Thr26302=)
c.106101G>C (p.Thr35367=)
c.101178G>C (p.Thr33726=)
n.446+6878C>G
n.220-5218C>G
c.105198G>C (p.Thr35066=)
c.79092G>C (p.Thr26364=)
c.78951G>C (p.Thr26317=)
c.104994G>C (p.Thr34998=)
c.100392G>C (p.Thr33464=)
c.100389G>C (p.Thr33463=)
c.97431G>C (p.Thr32477=)
c.79047G>C (p.Thr26349=)
c.100542G>C (p.Thr33514=)
c.100539G>C (p.Thr33513=)
c.99972G>C (p.Thr33324=)
c.97314G>C (p.Thr32438=)
c.97233G>C (p.Thr32411=)
c.78996G>C (p.Thr26332=)
c.68850G>C (p.Thr22950=)
2g.178530514C>TCA1985164TTN,TTN-AS1c.98397G>A (p.Thr32799=)
c.79482G>A (p.Thr26494=)
c.79281G>A (p.Thr26427=)
c.78906G>A (p.Thr26302=)
c.106101G>A (p.Thr35367=)
c.101178G>A (p.Thr33726=)
n.446+6878C>T
n.220-5218C>T
c.105198G>A (p.Thr35066=)
c.79092G>A (p.Thr26364=)
c.78951G>A (p.Thr26317=)
c.104994G>A (p.Thr34998=)
c.100392G>A (p.Thr33464=)
c.100389G>A (p.Thr33463=)
c.97431G>A (p.Thr32477=)
c.79047G>A (p.Thr26349=)
c.100542G>A (p.Thr33514=)
c.100539G>A (p.Thr33513=)
c.99972G>A (p.Thr33324=)
c.97314G>A (p.Thr32438=)
c.97233G>A (p.Thr32411=)
c.78996G>A (p.Thr26332=)
c.68850G>A (p.Thr22950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530515G>ACA1985165TTN,TTN-AS1c.98396C>T (p.Thr32799Met)
c.79481C>T (p.Thr26494Met)
c.79280C>T (p.Thr26427Met)
c.78905C>T (p.Thr26302Met)
c.106100C>T (p.Thr35367Met)
c.101177C>T (p.Thr33726Met)
n.446+6879G>A
n.220-5217G>A
c.105197C>T (p.Thr35066Met)
c.79091C>T (p.Thr26364Met)
c.78950C>T (p.Thr26317Met)
c.104993C>T (p.Thr34998Met)
c.100391C>T (p.Thr33464Met)
c.100388C>T (p.Thr33463Met)
c.97430C>T (p.Thr32477Met)
c.79046C>T (p.Thr26349Met)
c.100541C>T (p.Thr33514Met)
c.100538C>T (p.Thr33513Met)
c.99971C>T (p.Thr33324Met)
c.97313C>T (p.Thr32438Met)
c.97232C>T (p.Thr32411Met)
c.78995C>T (p.Thr26332Met)
c.68849C>T (p.Thr22950Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530515G>CCA349407033TTN,TTN-AS1c.98396C>G (p.Thr32799Arg)
c.79481C>G (p.Thr26494Arg)
c.79280C>G (p.Thr26427Arg)
c.78905C>G (p.Thr26302Arg)
c.106100C>G (p.Thr35367Arg)
c.101177C>G (p.Thr33726Arg)
n.446+6879G>C
n.220-5217G>C
c.105197C>G (p.Thr35066Arg)
c.79091C>G (p.Thr26364Arg)
c.78950C>G (p.Thr26317Arg)
c.104993C>G (p.Thr34998Arg)
c.100391C>G (p.Thr33464Arg)
c.100388C>G (p.Thr33463Arg)
c.97430C>G (p.Thr32477Arg)
c.79046C>G (p.Thr26349Arg)
c.100541C>G (p.Thr33514Arg)
c.100538C>G (p.Thr33513Arg)
c.99971C>G (p.Thr33324Arg)
c.97313C>G (p.Thr32438Arg)
c.97232C>G (p.Thr32411Arg)
c.78995C>G (p.Thr26332Arg)
c.68849C>G (p.Thr22950Arg)
2g.178530515G=CA1310514708TTN,TTN-AS1c.98396C= (p.Thr32799=)
c.79481C= (p.Thr26494=)
c.79280C= (p.Thr26427=)
c.78905C= (p.Thr26302=)
c.106100C= (p.Thr35367=)
c.101177C= (p.Thr33726=)
n.446+6879G=
n.220-5217G=
c.105197C= (p.Thr35066=)
c.79091C= (p.Thr26364=)
c.78950C= (p.Thr26317=)
c.104993C= (p.Thr34998=)
c.100391C= (p.Thr33464=)
c.100388C= (p.Thr33463=)
c.97430C= (p.Thr32477=)
c.79046C= (p.Thr26349=)
c.100541C= (p.Thr33514=)
c.100538C= (p.Thr33513=)
c.99971C= (p.Thr33324=)
c.97313C= (p.Thr32438=)
c.97232C= (p.Thr32411=)
c.78995C= (p.Thr26332=)
c.68849C= (p.Thr22950=)
2g.178530515G>TCA349407034TTN,TTN-AS1c.98396C>A (p.Thr32799Lys)
c.79481C>A (p.Thr26494Lys)
c.79280C>A (p.Thr26427Lys)
c.78905C>A (p.Thr26302Lys)
c.106100C>A (p.Thr35367Lys)
c.101177C>A (p.Thr33726Lys)
n.446+6879G>T
n.220-5217G>T
c.105197C>A (p.Thr35066Lys)
c.79091C>A (p.Thr26364Lys)
c.78950C>A (p.Thr26317Lys)
c.104993C>A (p.Thr34998Lys)
c.100391C>A (p.Thr33464Lys)
c.100388C>A (p.Thr33463Lys)
c.97430C>A (p.Thr32477Lys)
c.79046C>A (p.Thr26349Lys)
c.100541C>A (p.Thr33514Lys)
c.100538C>A (p.Thr33513Lys)
c.99971C>A (p.Thr33324Lys)
c.97313C>A (p.Thr32438Lys)
c.97232C>A (p.Thr32411Lys)
c.78995C>A (p.Thr26332Lys)
c.68849C>A (p.Thr22950Lys)
2g.178530515dupCA2662125860TTN,TTN-AS1c.98396dup (p.Ser32800ValfsTer2)
c.79481dup (p.Ser26495ValfsTer2)
c.79280dup (p.Ser26428ValfsTer2)
c.78905dup (p.Ser26303ValfsTer2)
c.106100dup (p.Ser35368ValfsTer2)
c.101177dup (p.Ser33727ValfsTer2)
n.446+6879dup
n.220-5217dup
c.105197dup (p.Ser35067ValfsTer2)
c.79091dup (p.Ser26365ValfsTer2)
c.78950dup (p.Ser26318ValfsTer2)
c.104993dup (p.Ser34999ValfsTer2)
c.100391dup (p.Ser33465ValfsTer2)
c.100388dup (p.Ser33464ValfsTer2)
c.97430dup (p.Ser32478ValfsTer2)
c.79046dup (p.Ser26350ValfsTer2)
c.100541dup (p.Ser33515ValfsTer2)
c.100538dup (p.Ser33514ValfsTer2)
c.99971dup (p.Ser33325ValfsTer2)
c.97313dup (p.Ser32439ValfsTer2)
c.97232dup (p.Ser32412ValfsTer2)
c.78995dup (p.Ser26333ValfsTer2)
c.68849dup (p.Ser22951ValfsTer2)
 gnomAD v4
2g.178530516T>ACA349407035TTN,TTN-AS1c.98395A>T (p.Thr32799Ser)
c.79480A>T (p.Thr26494Ser)
c.79279A>T (p.Thr26427Ser)
c.78904A>T (p.Thr26302Ser)
c.106099A>T (p.Thr35367Ser)
c.101176A>T (p.Thr33726Ser)
n.446+6880T>A
n.220-5216T>A
c.105196A>T (p.Thr35066Ser)
c.79090A>T (p.Thr26364Ser)
c.78949A>T (p.Thr26317Ser)
c.104992A>T (p.Thr34998Ser)
c.100390A>T (p.Thr33464Ser)
c.100387A>T (p.Thr33463Ser)
c.97429A>T (p.Thr32477Ser)
c.79045A>T (p.Thr26349Ser)
c.100540A>T (p.Thr33514Ser)
c.100537A>T (p.Thr33513Ser)
c.99970A>T (p.Thr33324Ser)
c.97312A>T (p.Thr32438Ser)
c.97231A>T (p.Thr32411Ser)
c.78994A>T (p.Thr26332Ser)
c.68848A>T (p.Thr22950Ser)
2g.178530516T>CCA349407036TTN,TTN-AS1c.98395A>G (p.Thr32799Ala)
c.79480A>G (p.Thr26494Ala)
c.79279A>G (p.Thr26427Ala)
c.78904A>G (p.Thr26302Ala)
c.106099A>G (p.Thr35367Ala)
c.101176A>G (p.Thr33726Ala)
n.446+6880T>C
n.220-5216T>C
c.105196A>G (p.Thr35066Ala)
c.79090A>G (p.Thr26364Ala)
c.78949A>G (p.Thr26317Ala)
c.104992A>G (p.Thr34998Ala)
c.100390A>G (p.Thr33464Ala)
c.100387A>G (p.Thr33463Ala)
c.97429A>G (p.Thr32477Ala)
c.79045A>G (p.Thr26349Ala)
c.100540A>G (p.Thr33514Ala)
c.100537A>G (p.Thr33513Ala)
c.99970A>G (p.Thr33324Ala)
c.97312A>G (p.Thr32438Ala)
c.97231A>G (p.Thr32411Ala)
c.78994A>G (p.Thr26332Ala)
c.68848A>G (p.Thr22950Ala)
2g.178530516T>GCA349407037TTN,TTN-AS1c.98395A>C (p.Thr32799Pro)
c.79480A>C (p.Thr26494Pro)
c.79279A>C (p.Thr26427Pro)
c.78904A>C (p.Thr26302Pro)
c.106099A>C (p.Thr35367Pro)
c.101176A>C (p.Thr33726Pro)
n.446+6880T>G
n.220-5216T>G
c.105196A>C (p.Thr35066Pro)
c.79090A>C (p.Thr26364Pro)
c.78949A>C (p.Thr26317Pro)
c.104992A>C (p.Thr34998Pro)
c.100390A>C (p.Thr33464Pro)
c.100387A>C (p.Thr33463Pro)
c.97429A>C (p.Thr32477Pro)
c.79045A>C (p.Thr26349Pro)
c.100540A>C (p.Thr33514Pro)
c.100537A>C (p.Thr33513Pro)
c.99970A>C (p.Thr33324Pro)
c.97312A>C (p.Thr32438Pro)
c.97231A>C (p.Thr32411Pro)
c.78994A>C (p.Thr26332Pro)
c.68848A>C (p.Thr22950Pro)
2g.178530517T>ACA430235126TTN,TTN-AS1c.98394A>T (p.Gly32798=)
c.79479A>T (p.Gly26493=)
c.79278A>T (p.Gly26426=)
c.78903A>T (p.Gly26301=)
c.106098A>T (p.Gly35366=)
c.101175A>T (p.Gly33725=)
n.446+6881T>A
n.220-5215T>A
c.105195A>T (p.Gly35065=)
c.79089A>T (p.Gly26363=)
c.78948A>T (p.Gly26316=)
c.104991A>T (p.Gly34997=)
c.100389A>T (p.Gly33463=)
c.100386A>T (p.Gly33462=)
c.97428A>T (p.Gly32476=)
c.79044A>T (p.Gly26348=)
c.100539A>T (p.Gly33513=)
c.100536A>T (p.Gly33512=)
c.99969A>T (p.Gly33323=)
c.97311A>T (p.Gly32437=)
c.97230A>T (p.Gly32410=)
c.78993A>T (p.Gly26331=)
c.68847A>T (p.Gly22949=)
2g.178530517T>CCA430235128TTN,TTN-AS1c.98394A>G (p.Gly32798=)
c.79479A>G (p.Gly26493=)
c.79278A>G (p.Gly26426=)
c.78903A>G (p.Gly26301=)
c.106098A>G (p.Gly35366=)
c.101175A>G (p.Gly33725=)
n.446+6881T>C
n.220-5215T>C
c.105195A>G (p.Gly35065=)
c.79089A>G (p.Gly26363=)
c.78948A>G (p.Gly26316=)
c.104991A>G (p.Gly34997=)
c.100389A>G (p.Gly33463=)
c.100386A>G (p.Gly33462=)
c.97428A>G (p.Gly32476=)
c.79044A>G (p.Gly26348=)
c.100539A>G (p.Gly33513=)
c.100536A>G (p.Gly33512=)
c.99969A>G (p.Gly33323=)
c.97311A>G (p.Gly32437=)
c.97230A>G (p.Gly32410=)
c.78993A>G (p.Gly26331=)
c.68847A>G (p.Gly22949=)
2g.178530517T>GCA430235127TTN,TTN-AS1c.98394A>C (p.Gly32798=)
c.79479A>C (p.Gly26493=)
c.79278A>C (p.Gly26426=)
c.78903A>C (p.Gly26301=)
c.106098A>C (p.Gly35366=)
c.101175A>C (p.Gly33725=)
n.446+6881T>G
n.220-5215T>G
c.105195A>C (p.Gly35065=)
c.79089A>C (p.Gly26363=)
c.78948A>C (p.Gly26316=)
c.104991A>C (p.Gly34997=)
c.100389A>C (p.Gly33463=)
c.100386A>C (p.Gly33462=)
c.97428A>C (p.Gly32476=)
c.79044A>C (p.Gly26348=)
c.100539A>C (p.Gly33513=)
c.100536A>C (p.Gly33512=)
c.99969A>C (p.Gly33323=)
c.97311A>C (p.Gly32437=)
c.97230A>C (p.Gly32410=)
c.78993A>C (p.Gly26331=)
c.68847A>C (p.Gly22949=)
2g.178530518C>ACA349407038TTN,TTN-AS1c.98393G>T (p.Gly32798Val)
c.79478G>T (p.Gly26493Val)
c.79277G>T (p.Gly26426Val)
c.78902G>T (p.Gly26301Val)
c.106097G>T (p.Gly35366Val)
c.101174G>T (p.Gly33725Val)
n.446+6882C>A
n.220-5214C>A
c.105194G>T (p.Gly35065Val)
c.79088G>T (p.Gly26363Val)
c.78947G>T (p.Gly26316Val)
c.104990G>T (p.Gly34997Val)
c.100388G>T (p.Gly33463Val)
c.100385G>T (p.Gly33462Val)
c.97427G>T (p.Gly32476Val)
c.79043G>T (p.Gly26348Val)
c.100538G>T (p.Gly33513Val)
c.100535G>T (p.Gly33512Val)
c.99968G>T (p.Gly33323Val)
c.97310G>T (p.Gly32437Val)
c.97229G>T (p.Gly32410Val)
c.78992G>T (p.Gly26331Val)
c.68846G>T (p.Gly22949Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178530518C>GCA349407039TTN,TTN-AS1c.98393G>C (p.Gly32798Ala)
c.79478G>C (p.Gly26493Ala)
c.79277G>C (p.Gly26426Ala)
c.78902G>C (p.Gly26301Ala)
c.106097G>C (p.Gly35366Ala)
c.101174G>C (p.Gly33725Ala)
n.446+6882C>G
n.220-5214C>G
c.105194G>C (p.Gly35065Ala)
c.79088G>C (p.Gly26363Ala)
c.78947G>C (p.Gly26316Ala)
c.104990G>C (p.Gly34997Ala)
c.100388G>C (p.Gly33463Ala)
c.100385G>C (p.Gly33462Ala)
c.97427G>C (p.Gly32476Ala)
c.79043G>C (p.Gly26348Ala)
c.100538G>C (p.Gly33513Ala)
c.100535G>C (p.Gly33512Ala)
c.99968G>C (p.Gly33323Ala)
c.97310G>C (p.Gly32437Ala)
c.97229G>C (p.Gly32410Ala)
c.78992G>C (p.Gly26331Ala)
c.68846G>C (p.Gly22949Ala)
 gnomAD v3 gnomAD v4
2g.178530518C>TCA349407040TTN,TTN-AS1c.98393G>A (p.Gly32798Glu)
c.79478G>A (p.Gly26493Glu)
c.79277G>A (p.Gly26426Glu)
c.78902G>A (p.Gly26301Glu)
c.106097G>A (p.Gly35366Glu)
c.101174G>A (p.Gly33725Glu)
n.446+6882C>T
n.220-5214C>T
c.105194G>A (p.Gly35065Glu)
c.79088G>A (p.Gly26363Glu)
c.78947G>A (p.Gly26316Glu)
c.104990G>A (p.Gly34997Glu)
c.100388G>A (p.Gly33463Glu)
c.100385G>A (p.Gly33462Glu)
c.97427G>A (p.Gly32476Glu)
c.79043G>A (p.Gly26348Glu)
c.100538G>A (p.Gly33513Glu)
c.100535G>A (p.Gly33512Glu)
c.99968G>A (p.Gly33323Glu)
c.97310G>A (p.Gly32437Glu)
c.97229G>A (p.Gly32410Glu)
c.78992G>A (p.Gly26331Glu)
c.68846G>A (p.Gly22949Glu)
 gnomAD v4
2g.178530519C>ACA349407041TTN,TTN-AS1c.98392G>T (p.Gly32798Ter)
c.79477G>T (p.Gly26493Ter)
c.79276G>T (p.Gly26426Ter)
c.78901G>T (p.Gly26301Ter)
c.106096G>T (p.Gly35366Ter)
c.101173G>T (p.Gly33725Ter)
n.446+6883C>A
n.220-5213C>A
c.105193G>T (p.Gly35065Ter)
c.79087G>T (p.Gly26363Ter)
c.78946G>T (p.Gly26316Ter)
c.104989G>T (p.Gly34997Ter)
c.100387G>T (p.Gly33463Ter)
c.100384G>T (p.Gly33462Ter)
c.97426G>T (p.Gly32476Ter)
c.79042G>T (p.Gly26348Ter)
c.100537G>T (p.Gly33513Ter)
c.100534G>T (p.Gly33512Ter)
c.99967G>T (p.Gly33323Ter)
c.97309G>T (p.Gly32437Ter)
c.97228G>T (p.Gly32410Ter)
c.78991G>T (p.Gly26331Ter)
c.68845G>T (p.Gly22949Ter)
2g.178530519C=CA1310514711TTN,TTN-AS1c.98392G= (p.Gly32798=)
c.79477G= (p.Gly26493=)
c.79276G= (p.Gly26426=)
c.78901G= (p.Gly26301=)
c.106096G= (p.Gly35366=)
c.101173G= (p.Gly33725=)
n.446+6883C=
n.220-5213C=
c.105193G= (p.Gly35065=)
c.79087G= (p.Gly26363=)
c.78946G= (p.Gly26316=)
c.104989G= (p.Gly34997=)
c.100387G= (p.Gly33463=)
c.100384G= (p.Gly33462=)
c.97426G= (p.Gly32476=)
c.79042G= (p.Gly26348=)
c.100537G= (p.Gly33513=)
c.100534G= (p.Gly33512=)
c.99967G= (p.Gly33323=)
c.97309G= (p.Gly32437=)
c.97228G= (p.Gly32410=)
c.78991G= (p.Gly26331=)
c.68845G= (p.Gly22949=)
2g.178530519C>GCA349407042TTN,TTN-AS1c.98392G>C (p.Gly32798Arg)
c.79477G>C (p.Gly26493Arg)
c.79276G>C (p.Gly26426Arg)
c.78901G>C (p.Gly26301Arg)
c.106096G>C (p.Gly35366Arg)
c.101173G>C (p.Gly33725Arg)
n.446+6883C>G
n.220-5213C>G
c.105193G>C (p.Gly35065Arg)
c.79087G>C (p.Gly26363Arg)
c.78946G>C (p.Gly26316Arg)
c.104989G>C (p.Gly34997Arg)
c.100387G>C (p.Gly33463Arg)
c.100384G>C (p.Gly33462Arg)
c.97426G>C (p.Gly32476Arg)
c.79042G>C (p.Gly26348Arg)
c.100537G>C (p.Gly33513Arg)
c.100534G>C (p.Gly33512Arg)
c.99967G>C (p.Gly33323Arg)
c.97309G>C (p.Gly32437Arg)
c.97228G>C (p.Gly32410Arg)
c.78991G>C (p.Gly26331Arg)
c.68845G>C (p.Gly22949Arg)
2g.178530519C>TCA349407043TTN,TTN-AS1c.98392G>A (p.Gly32798Arg)
c.79477G>A (p.Gly26493Arg)
c.79276G>A (p.Gly26426Arg)
c.78901G>A (p.Gly26301Arg)
c.106096G>A (p.Gly35366Arg)
c.101173G>A (p.Gly33725Arg)
n.446+6883C>T
n.220-5213C>T
c.105193G>A (p.Gly35065Arg)
c.79087G>A (p.Gly26363Arg)
c.78946G>A (p.Gly26316Arg)
c.104989G>A (p.Gly34997Arg)
c.100387G>A (p.Gly33463Arg)
c.100384G>A (p.Gly33462Arg)
c.97426G>A (p.Gly32476Arg)
c.79042G>A (p.Gly26348Arg)
c.100537G>A (p.Gly33513Arg)
c.100534G>A (p.Gly33512Arg)
c.99967G>A (p.Gly33323Arg)
c.97309G>A (p.Gly32437Arg)
c.97228G>A (p.Gly32410Arg)
c.78991G>A (p.Gly26331Arg)
c.68845G>A (p.Gly22949Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178530520A>CCA430235133TTN,TTN-AS1c.98391T>G (p.Gly32797=)
c.79476T>G (p.Gly26492=)
c.79275T>G (p.Gly26425=)
c.78900T>G (p.Gly26300=)
c.106095T>G (p.Gly35365=)
c.101172T>G (p.Gly33724=)
n.446+6884A>C
n.220-5212A>C
c.105192T>G (p.Gly35064=)
c.79086T>G (p.Gly26362=)
c.78945T>G (p.Gly26315=)
c.104988T>G (p.Gly34996=)
c.100386T>G (p.Gly33462=)
c.100383T>G (p.Gly33461=)
c.97425T>G (p.Gly32475=)
c.79041T>G (p.Gly26347=)
c.100536T>G (p.Gly33512=)
c.100533T>G (p.Gly33511=)
c.99966T>G (p.Gly33322=)
c.97308T>G (p.Gly32436=)
c.97227T>G (p.Gly32409=)
c.78990T>G (p.Gly26330=)
c.68844T>G (p.Gly22948=)
2g.178530520A>GCA430235134TTN,TTN-AS1c.98391T>C (p.Gly32797=)
c.79476T>C (p.Gly26492=)
c.79275T>C (p.Gly26425=)
c.78900T>C (p.Gly26300=)
c.106095T>C (p.Gly35365=)
c.101172T>C (p.Gly33724=)
n.446+6884A>G
n.220-5212A>G
c.105192T>C (p.Gly35064=)
c.79086T>C (p.Gly26362=)
c.78945T>C (p.Gly26315=)
c.104988T>C (p.Gly34996=)
c.100386T>C (p.Gly33462=)
c.100383T>C (p.Gly33461=)
c.97425T>C (p.Gly32475=)
c.79041T>C (p.Gly26347=)
c.100536T>C (p.Gly33512=)
c.100533T>C (p.Gly33511=)
c.99966T>C (p.Gly33322=)
c.97308T>C (p.Gly32436=)
c.97227T>C (p.Gly32409=)
c.78990T>C (p.Gly26330=)
c.68844T>C (p.Gly22948=)
 gnomAD v4
2g.178530520A>TCA430235135TTN,TTN-AS1c.98391T>A (p.Gly32797=)
c.79476T>A (p.Gly26492=)
c.79275T>A (p.Gly26425=)
c.78900T>A (p.Gly26300=)
c.106095T>A (p.Gly35365=)
c.101172T>A (p.Gly33724=)
n.446+6884A>T
n.220-5212A>T
c.105192T>A (p.Gly35064=)
c.79086T>A (p.Gly26362=)
c.78945T>A (p.Gly26315=)
c.104988T>A (p.Gly34996=)
c.100386T>A (p.Gly33462=)
c.100383T>A (p.Gly33461=)
c.97425T>A (p.Gly32475=)
c.79041T>A (p.Gly26347=)
c.100536T>A (p.Gly33512=)
c.100533T>A (p.Gly33511=)
c.99966T>A (p.Gly33322=)
c.97308T>A (p.Gly32436=)
c.97227T>A (p.Gly32409=)
c.78990T>A (p.Gly26330=)
c.68844T>A (p.Gly22948=)
2g.178530521C>ACA349407044TTN,TTN-AS1c.98390G>T (p.Gly32797Val)
c.79475G>T (p.Gly26492Val)
c.79274G>T (p.Gly26425Val)
c.78899G>T (p.Gly26300Val)
c.106094G>T (p.Gly35365Val)
c.101171G>T (p.Gly33724Val)
n.446+6885C>A
n.220-5211C>A
c.105191G>T (p.Gly35064Val)
c.79085G>T (p.Gly26362Val)
c.78944G>T (p.Gly26315Val)
c.104987G>T (p.Gly34996Val)
c.100385G>T (p.Gly33462Val)
c.100382G>T (p.Gly33461Val)
c.97424G>T (p.Gly32475Val)
c.79040G>T (p.Gly26347Val)
c.100535G>T (p.Gly33512Val)
c.100532G>T (p.Gly33511Val)
c.99965G>T (p.Gly33322Val)
c.97307G>T (p.Gly32436Val)
c.97226G>T (p.Gly32409Val)
c.78989G>T (p.Gly26330Val)
c.68843G>T (p.Gly22948Val)
2g.178530521C=CA1310514712TTN,TTN-AS1c.98390G= (p.Gly32797=)
c.79475G= (p.Gly26492=)
c.79274G= (p.Gly26425=)
c.78899G= (p.Gly26300=)
c.106094G= (p.Gly35365=)
c.101171G= (p.Gly33724=)
n.446+6885C=
n.220-5211C=
c.105191G= (p.Gly35064=)
c.79085G= (p.Gly26362=)
c.78944G= (p.Gly26315=)
c.104987G= (p.Gly34996=)
c.100385G= (p.Gly33462=)
c.100382G= (p.Gly33461=)
c.97424G= (p.Gly32475=)
c.79040G= (p.Gly26347=)
c.100535G= (p.Gly33512=)
c.100532G= (p.Gly33511=)
c.99965G= (p.Gly33322=)
c.97307G= (p.Gly32436=)
c.97226G= (p.Gly32409=)
c.78989G= (p.Gly26330=)
c.68843G= (p.Gly22948=)
2g.178530521C>GCA349407045TTN,TTN-AS1c.98390G>C (p.Gly32797Ala)
c.79475G>C (p.Gly26492Ala)
c.79274G>C (p.Gly26425Ala)
c.78899G>C (p.Gly26300Ala)
c.106094G>C (p.Gly35365Ala)
c.101171G>C (p.Gly33724Ala)
n.446+6885C>G
n.220-5211C>G
c.105191G>C (p.Gly35064Ala)
c.79085G>C (p.Gly26362Ala)
c.78944G>C (p.Gly26315Ala)
c.104987G>C (p.Gly34996Ala)
c.100385G>C (p.Gly33462Ala)
c.100382G>C (p.Gly33461Ala)
c.97424G>C (p.Gly32475Ala)
c.79040G>C (p.Gly26347Ala)
c.100535G>C (p.Gly33512Ala)
c.100532G>C (p.Gly33511Ala)
c.99965G>C (p.Gly33322Ala)
c.97307G>C (p.Gly32436Ala)
c.97226G>C (p.Gly32409Ala)
c.78989G>C (p.Gly26330Ala)
c.68843G>C (p.Gly22948Ala)
 gnomAD v4
2g.178530521C>TCA1985166TTN,TTN-AS1c.98390G>A (p.Gly32797Asp)
c.79475G>A (p.Gly26492Asp)
c.79274G>A (p.Gly26425Asp)
c.78899G>A (p.Gly26300Asp)
c.106094G>A (p.Gly35365Asp)
c.101171G>A (p.Gly33724Asp)
n.446+6885C>T
n.220-5211C>T
c.105191G>A (p.Gly35064Asp)
c.79085G>A (p.Gly26362Asp)
c.78944G>A (p.Gly26315Asp)
c.104987G>A (p.Gly34996Asp)
c.100385G>A (p.Gly33462Asp)
c.100382G>A (p.Gly33461Asp)
c.97424G>A (p.Gly32475Asp)
c.79040G>A (p.Gly26347Asp)
c.100535G>A (p.Gly33512Asp)
c.100532G>A (p.Gly33511Asp)
c.99965G>A (p.Gly33322Asp)
c.97307G>A (p.Gly32436Asp)
c.97226G>A (p.Gly32409Asp)
c.78989G>A (p.Gly26330Asp)
c.68843G>A (p.Gly22948Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530522C>ACA349407046TTN,TTN-AS1c.98389G>T (p.Gly32797Cys)
c.79474G>T (p.Gly26492Cys)
c.79273G>T (p.Gly26425Cys)
c.78898G>T (p.Gly26300Cys)
c.106093G>T (p.Gly35365Cys)
c.101170G>T (p.Gly33724Cys)
n.446+6886C>A
n.220-5210C>A
c.105190G>T (p.Gly35064Cys)
c.79084G>T (p.Gly26362Cys)
c.78943G>T (p.Gly26315Cys)
c.104986G>T (p.Gly34996Cys)
c.100384G>T (p.Gly33462Cys)
c.100381G>T (p.Gly33461Cys)
c.97423G>T (p.Gly32475Cys)
c.79039G>T (p.Gly26347Cys)
c.100534G>T (p.Gly33512Cys)
c.100531G>T (p.Gly33511Cys)
c.99964G>T (p.Gly33322Cys)
c.97306G>T (p.Gly32436Cys)
c.97225G>T (p.Gly32409Cys)
c.78988G>T (p.Gly26330Cys)
c.68842G>T (p.Gly22948Cys)
2g.178530522C=CA1310514714TTN,TTN-AS1c.98389G= (p.Gly32797=)
c.79474G= (p.Gly26492=)
c.79273G= (p.Gly26425=)
c.78898G= (p.Gly26300=)
c.106093G= (p.Gly35365=)
c.101170G= (p.Gly33724=)
n.446+6886C=
n.220-5210C=
c.105190G= (p.Gly35064=)
c.79084G= (p.Gly26362=)
c.78943G= (p.Gly26315=)
c.104986G= (p.Gly34996=)
c.100384G= (p.Gly33462=)
c.100381G= (p.Gly33461=)
c.97423G= (p.Gly32475=)
c.79039G= (p.Gly26347=)
c.100534G= (p.Gly33512=)
c.100531G= (p.Gly33511=)
c.99964G= (p.Gly33322=)
c.97306G= (p.Gly32436=)
c.97225G= (p.Gly32409=)
c.78988G= (p.Gly26330=)
c.68842G= (p.Gly22948=)
2g.178530522C>GCA349407048TTN,TTN-AS1c.98389G>C (p.Gly32797Arg)
c.79474G>C (p.Gly26492Arg)
c.79273G>C (p.Gly26425Arg)
c.78898G>C (p.Gly26300Arg)
c.106093G>C (p.Gly35365Arg)
c.101170G>C (p.Gly33724Arg)
n.446+6886C>G
n.220-5210C>G
c.105190G>C (p.Gly35064Arg)
c.79084G>C (p.Gly26362Arg)
c.78943G>C (p.Gly26315Arg)
c.104986G>C (p.Gly34996Arg)
c.100384G>C (p.Gly33462Arg)
c.100381G>C (p.Gly33461Arg)
c.97423G>C (p.Gly32475Arg)
c.79039G>C (p.Gly26347Arg)
c.100534G>C (p.Gly33512Arg)
c.100531G>C (p.Gly33511Arg)
c.99964G>C (p.Gly33322Arg)
c.97306G>C (p.Gly32436Arg)
c.97225G>C (p.Gly32409Arg)
c.78988G>C (p.Gly26330Arg)
c.68842G>C (p.Gly22948Arg)
 dbSNP gnomAD v2
2g.178530522C>TCA349407047TTN,TTN-AS1c.98389G>A (p.Gly32797Ser)
c.79474G>A (p.Gly26492Ser)
c.79273G>A (p.Gly26425Ser)
c.78898G>A (p.Gly26300Ser)
c.106093G>A (p.Gly35365Ser)
c.101170G>A (p.Gly33724Ser)
n.446+6886C>T
n.220-5210C>T
c.105190G>A (p.Gly35064Ser)
c.79084G>A (p.Gly26362Ser)
c.78943G>A (p.Gly26315Ser)
c.104986G>A (p.Gly34996Ser)
c.100384G>A (p.Gly33462Ser)
c.100381G>A (p.Gly33461Ser)
c.97423G>A (p.Gly32475Ser)
c.79039G>A (p.Gly26347Ser)
c.100534G>A (p.Gly33512Ser)
c.100531G>A (p.Gly33511Ser)
c.99964G>A (p.Gly33322Ser)
c.97306G>A (p.Gly32436Ser)
c.97225G>A (p.Gly32409Ser)
c.78988G>A (p.Gly26330Ser)
c.68842G>A (p.Gly22948Ser)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530523T>ACA349407049TTN,TTN-AS1c.98388A>T (p.Glu32796Asp)
c.79473A>T (p.Glu26491Asp)
c.79272A>T (p.Glu26424Asp)
c.78897A>T (p.Glu26299Asp)
c.106092A>T (p.Glu35364Asp)
c.101169A>T (p.Glu33723Asp)
n.446+6887T>A
n.220-5209T>A
c.105189A>T (p.Glu35063Asp)
c.79083A>T (p.Glu26361Asp)
c.78942A>T (p.Glu26314Asp)
c.104985A>T (p.Glu34995Asp)
c.100383A>T (p.Glu33461Asp)
c.100380A>T (p.Glu33460Asp)
c.97422A>T (p.Glu32474Asp)
c.79038A>T (p.Glu26346Asp)
c.100533A>T (p.Glu33511Asp)
c.100530A>T (p.Glu33510Asp)
c.99963A>T (p.Glu33321Asp)
c.97305A>T (p.Glu32435Asp)
c.97224A>T (p.Glu32408Asp)
c.78987A>T (p.Glu26329Asp)
c.68841A>T (p.Glu22947Asp)
2g.178530523T>CCA430235141TTN,TTN-AS1c.98388A>G (p.Glu32796=)
c.79473A>G (p.Glu26491=)
c.79272A>G (p.Glu26424=)
c.78897A>G (p.Glu26299=)
c.106092A>G (p.Glu35364=)
c.101169A>G (p.Glu33723=)
n.446+6887T>C
n.220-5209T>C
c.105189A>G (p.Glu35063=)
c.79083A>G (p.Glu26361=)
c.78942A>G (p.Glu26314=)
c.104985A>G (p.Glu34995=)
c.100383A>G (p.Glu33461=)
c.100380A>G (p.Glu33460=)
c.97422A>G (p.Glu32474=)
c.79038A>G (p.Glu26346=)
c.100533A>G (p.Glu33511=)
c.100530A>G (p.Glu33510=)
c.99963A>G (p.Glu33321=)
c.97305A>G (p.Glu32435=)
c.97224A>G (p.Glu32408=)
c.78987A>G (p.Glu26329=)
c.68841A>G (p.Glu22947=)
2g.178530523T>GCA349407050TTN,TTN-AS1c.98388A>C (p.Glu32796Asp)
c.79473A>C (p.Glu26491Asp)
c.79272A>C (p.Glu26424Asp)
c.78897A>C (p.Glu26299Asp)
c.106092A>C (p.Glu35364Asp)
c.101169A>C (p.Glu33723Asp)
n.446+6887T>G
n.220-5209T>G
c.105189A>C (p.Glu35063Asp)
c.79083A>C (p.Glu26361Asp)
c.78942A>C (p.Glu26314Asp)
c.104985A>C (p.Glu34995Asp)
c.100383A>C (p.Glu33461Asp)
c.100380A>C (p.Glu33460Asp)
c.97422A>C (p.Glu32474Asp)
c.79038A>C (p.Glu26346Asp)
c.100533A>C (p.Glu33511Asp)
c.100530A>C (p.Glu33510Asp)
c.99963A>C (p.Glu33321Asp)
c.97305A>C (p.Glu32435Asp)
c.97224A>C (p.Glu32408Asp)
c.78987A>C (p.Glu26329Asp)
c.68841A>C (p.Glu22947Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530523T=CA1310514717TTN,TTN-AS1c.98388A= (p.Glu32796=)
c.79473A= (p.Glu26491=)
c.79272A= (p.Glu26424=)
c.78897A= (p.Glu26299=)
c.106092A= (p.Glu35364=)
c.101169A= (p.Glu33723=)
n.446+6887T=
n.220-5209T=
c.105189A= (p.Glu35063=)
c.79083A= (p.Glu26361=)
c.78942A= (p.Glu26314=)
c.104985A= (p.Glu34995=)
c.100383A= (p.Glu33461=)
c.100380A= (p.Glu33460=)
c.97422A= (p.Glu32474=)
c.79038A= (p.Glu26346=)
c.100533A= (p.Glu33511=)
c.100530A= (p.Glu33510=)
c.99963A= (p.Glu33321=)
c.97305A= (p.Glu32435=)
c.97224A= (p.Glu32408=)
c.78987A= (p.Glu26329=)
c.68841A= (p.Glu22947=)
2g.178530524T>ACA349407051TTN,TTN-AS1c.98387A>T (p.Glu32796Val)
c.79472A>T (p.Glu26491Val)
c.79271A>T (p.Glu26424Val)
c.78896A>T (p.Glu26299Val)
c.106091A>T (p.Glu35364Val)
c.101168A>T (p.Glu33723Val)
n.446+6888T>A
n.220-5208T>A
c.105188A>T (p.Glu35063Val)
c.79082A>T (p.Glu26361Val)
c.78941A>T (p.Glu26314Val)
c.104984A>T (p.Glu34995Val)
c.100382A>T (p.Glu33461Val)
c.100379A>T (p.Glu33460Val)
c.97421A>T (p.Glu32474Val)
c.79037A>T (p.Glu26346Val)
c.100532A>T (p.Glu33511Val)
c.100529A>T (p.Glu33510Val)
c.99962A>T (p.Glu33321Val)
c.97304A>T (p.Glu32435Val)
c.97223A>T (p.Glu32408Val)
c.78986A>T (p.Glu26329Val)
c.68840A>T (p.Glu22947Val)
2g.178530524T>CCA349407052TTN,TTN-AS1c.98387A>G (p.Glu32796Gly)
c.79472A>G (p.Glu26491Gly)
c.79271A>G (p.Glu26424Gly)
c.78896A>G (p.Glu26299Gly)
c.106091A>G (p.Glu35364Gly)
c.101168A>G (p.Glu33723Gly)
n.446+6888T>C
n.220-5208T>C
c.105188A>G (p.Glu35063Gly)
c.79082A>G (p.Glu26361Gly)
c.78941A>G (p.Glu26314Gly)
c.104984A>G (p.Glu34995Gly)
c.100382A>G (p.Glu33461Gly)
c.100379A>G (p.Glu33460Gly)
c.97421A>G (p.Glu32474Gly)
c.79037A>G (p.Glu26346Gly)
c.100532A>G (p.Glu33511Gly)
c.100529A>G (p.Glu33510Gly)
c.99962A>G (p.Glu33321Gly)
c.97304A>G (p.Glu32435Gly)
c.97223A>G (p.Glu32408Gly)
c.78986A>G (p.Glu26329Gly)
c.68840A>G (p.Glu22947Gly)
 ClinVar dbSNP
2g.178530524T>GCA349407053TTN,TTN-AS1c.98387A>C (p.Glu32796Ala)
c.79472A>C (p.Glu26491Ala)
c.79271A>C (p.Glu26424Ala)
c.78896A>C (p.Glu26299Ala)
c.106091A>C (p.Glu35364Ala)
c.101168A>C (p.Glu33723Ala)
n.446+6888T>G
n.220-5208T>G
c.105188A>C (p.Glu35063Ala)
c.79082A>C (p.Glu26361Ala)
c.78941A>C (p.Glu26314Ala)
c.104984A>C (p.Glu34995Ala)
c.100382A>C (p.Glu33461Ala)
c.100379A>C (p.Glu33460Ala)
c.97421A>C (p.Glu32474Ala)
c.79037A>C (p.Glu26346Ala)
c.100532A>C (p.Glu33511Ala)
c.100529A>C (p.Glu33510Ala)
c.99962A>C (p.Glu33321Ala)
c.97304A>C (p.Glu32435Ala)
c.97223A>C (p.Glu32408Ala)
c.78986A>C (p.Glu26329Ala)
c.68840A>C (p.Glu22947Ala)
2g.178530524T=CA1310514718TTN,TTN-AS1c.98387A= (p.Glu32796=)
c.79472A= (p.Glu26491=)
c.79271A= (p.Glu26424=)
c.78896A= (p.Glu26299=)
c.106091A= (p.Glu35364=)
c.101168A= (p.Glu33723=)
n.446+6888T=
n.220-5208T=
c.105188A= (p.Glu35063=)
c.79082A= (p.Glu26361=)
c.78941A= (p.Glu26314=)
c.104984A= (p.Glu34995=)
c.100382A= (p.Glu33461=)
c.100379A= (p.Glu33460=)
c.97421A= (p.Glu32474=)
c.79037A= (p.Glu26346=)
c.100532A= (p.Glu33511=)
c.100529A= (p.Glu33510=)
c.99962A= (p.Glu33321=)
c.97304A= (p.Glu32435=)
c.97223A= (p.Glu32408=)
c.78986A= (p.Glu26329=)
c.68840A= (p.Glu22947=)
2g.178530525C>ACA349407054TTN,TTN-AS1c.98386G>T (p.Glu32796Ter)
c.79471G>T (p.Glu26491Ter)
c.79270G>T (p.Glu26424Ter)
c.78895G>T (p.Glu26299Ter)
c.106090G>T (p.Glu35364Ter)
c.101167G>T (p.Glu33723Ter)
n.446+6889C>A
n.220-5207C>A
c.105187G>T (p.Glu35063Ter)
c.79081G>T (p.Glu26361Ter)
c.78940G>T (p.Glu26314Ter)
c.104983G>T (p.Glu34995Ter)
c.100381G>T (p.Glu33461Ter)
c.100378G>T (p.Glu33460Ter)
c.97420G>T (p.Glu32474Ter)
c.79036G>T (p.Glu26346Ter)
c.100531G>T (p.Glu33511Ter)
c.100528G>T (p.Glu33510Ter)
c.99961G>T (p.Glu33321Ter)
c.97303G>T (p.Glu32435Ter)
c.97222G>T (p.Glu32408Ter)
c.78985G>T (p.Glu26329Ter)
c.68839G>T (p.Glu22947Ter)
2g.178530525C>GCA349407055TTN,TTN-AS1c.98386G>C (p.Glu32796Gln)
c.79471G>C (p.Glu26491Gln)
c.79270G>C (p.Glu26424Gln)
c.78895G>C (p.Glu26299Gln)
c.106090G>C (p.Glu35364Gln)
c.101167G>C (p.Glu33723Gln)
n.446+6889C>G
n.220-5207C>G
c.105187G>C (p.Glu35063Gln)
c.79081G>C (p.Glu26361Gln)
c.78940G>C (p.Glu26314Gln)
c.104983G>C (p.Glu34995Gln)
c.100381G>C (p.Glu33461Gln)
c.100378G>C (p.Glu33460Gln)
c.97420G>C (p.Glu32474Gln)
c.79036G>C (p.Glu26346Gln)
c.100531G>C (p.Glu33511Gln)
c.100528G>C (p.Glu33510Gln)
c.99961G>C (p.Glu33321Gln)
c.97303G>C (p.Glu32435Gln)
c.97222G>C (p.Glu32408Gln)
c.78985G>C (p.Glu26329Gln)
c.68839G>C (p.Glu22947Gln)
2g.178530525C>TCA349407056TTN,TTN-AS1c.98386G>A (p.Glu32796Lys)
c.79471G>A (p.Glu26491Lys)
c.79270G>A (p.Glu26424Lys)
c.78895G>A (p.Glu26299Lys)
c.106090G>A (p.Glu35364Lys)
c.101167G>A (p.Glu33723Lys)
n.446+6889C>T
n.220-5207C>T
c.105187G>A (p.Glu35063Lys)
c.79081G>A (p.Glu26361Lys)
c.78940G>A (p.Glu26314Lys)
c.104983G>A (p.Glu34995Lys)
c.100381G>A (p.Glu33461Lys)
c.100378G>A (p.Glu33460Lys)
c.97420G>A (p.Glu32474Lys)
c.79036G>A (p.Glu26346Lys)
c.100531G>A (p.Glu33511Lys)
c.100528G>A (p.Glu33510Lys)
c.99961G>A (p.Glu33321Lys)
c.97303G>A (p.Glu32435Lys)
c.97222G>A (p.Glu32408Lys)
c.78985G>A (p.Glu26329Lys)
c.68839G>A (p.Glu22947Lys)
 gnomAD v4
2g.178530526A>CCA430235146TTN,TTN-AS1c.98385T>G (p.Gly32795=)
c.79470T>G (p.Gly26490=)
c.79269T>G (p.Gly26423=)
c.78894T>G (p.Gly26298=)
c.106089T>G (p.Gly35363=)
c.101166T>G (p.Gly33722=)
n.446+6890A>C
n.220-5206A>C
c.105186T>G (p.Gly35062=)
c.79080T>G (p.Gly26360=)
c.78939T>G (p.Gly26313=)
c.104982T>G (p.Gly34994=)
c.100380T>G (p.Gly33460=)
c.100377T>G (p.Gly33459=)
c.97419T>G (p.Gly32473=)
c.79035T>G (p.Gly26345=)
c.100530T>G (p.Gly33510=)
c.100527T>G (p.Gly33509=)
c.99960T>G (p.Gly33320=)
c.97302T>G (p.Gly32434=)
c.97221T>G (p.Gly32407=)
c.78984T>G (p.Gly26328=)
c.68838T>G (p.Gly22946=)
2g.178530526A>GCA430235147TTN,TTN-AS1c.98385T>C (p.Gly32795=)
c.79470T>C (p.Gly26490=)
c.79269T>C (p.Gly26423=)
c.78894T>C (p.Gly26298=)
c.106089T>C (p.Gly35363=)
c.101166T>C (p.Gly33722=)
n.446+6890A>G
n.220-5206A>G
c.105186T>C (p.Gly35062=)
c.79080T>C (p.Gly26360=)
c.78939T>C (p.Gly26313=)
c.104982T>C (p.Gly34994=)
c.100380T>C (p.Gly33460=)
c.100377T>C (p.Gly33459=)
c.97419T>C (p.Gly32473=)
c.79035T>C (p.Gly26345=)
c.100530T>C (p.Gly33510=)
c.100527T>C (p.Gly33509=)
c.99960T>C (p.Gly33320=)
c.97302T>C (p.Gly32434=)
c.97221T>C (p.Gly32407=)
c.78984T>C (p.Gly26328=)
c.68838T>C (p.Gly22946=)
2g.178530526A>TCA430235148TTN,TTN-AS1c.98385T>A (p.Gly32795=)
c.79470T>A (p.Gly26490=)
c.79269T>A (p.Gly26423=)
c.78894T>A (p.Gly26298=)
c.106089T>A (p.Gly35363=)
c.101166T>A (p.Gly33722=)
n.446+6890A>T
n.220-5206A>T
c.105186T>A (p.Gly35062=)
c.79080T>A (p.Gly26360=)
c.78939T>A (p.Gly26313=)
c.104982T>A (p.Gly34994=)
c.100380T>A (p.Gly33460=)
c.100377T>A (p.Gly33459=)
c.97419T>A (p.Gly32473=)
c.79035T>A (p.Gly26345=)
c.100530T>A (p.Gly33510=)
c.100527T>A (p.Gly33509=)
c.99960T>A (p.Gly33320=)
c.97302T>A (p.Gly32434=)
c.97221T>A (p.Gly32407=)
c.78984T>A (p.Gly26328=)
c.68838T>A (p.Gly22946=)
 dbSNP
2g.178530527C>ACA349407057TTN,TTN-AS1c.98384G>T (p.Gly32795Val)
c.79469G>T (p.Gly26490Val)
c.79268G>T (p.Gly26423Val)
c.78893G>T (p.Gly26298Val)
c.106088G>T (p.Gly35363Val)
c.101165G>T (p.Gly33722Val)
n.446+6891C>A
n.220-5205C>A
c.105185G>T (p.Gly35062Val)
c.79079G>T (p.Gly26360Val)
c.78938G>T (p.Gly26313Val)
c.104981G>T (p.Gly34994Val)
c.100379G>T (p.Gly33460Val)
c.100376G>T (p.Gly33459Val)
c.97418G>T (p.Gly32473Val)
c.79034G>T (p.Gly26345Val)
c.100529G>T (p.Gly33510Val)
c.100526G>T (p.Gly33509Val)
c.99959G>T (p.Gly33320Val)
c.97301G>T (p.Gly32434Val)
c.97220G>T (p.Gly32407Val)
c.78983G>T (p.Gly26328Val)
c.68837G>T (p.Gly22946Val)
2g.178530527C>GCA349407058TTN,TTN-AS1c.98384G>C (p.Gly32795Ala)
c.79469G>C (p.Gly26490Ala)
c.79268G>C (p.Gly26423Ala)
c.78893G>C (p.Gly26298Ala)
c.106088G>C (p.Gly35363Ala)
c.101165G>C (p.Gly33722Ala)
n.446+6891C>G
n.220-5205C>G
c.105185G>C (p.Gly35062Ala)
c.79079G>C (p.Gly26360Ala)
c.78938G>C (p.Gly26313Ala)
c.104981G>C (p.Gly34994Ala)
c.100379G>C (p.Gly33460Ala)
c.100376G>C (p.Gly33459Ala)
c.97418G>C (p.Gly32473Ala)
c.79034G>C (p.Gly26345Ala)
c.100529G>C (p.Gly33510Ala)
c.100526G>C (p.Gly33509Ala)
c.99959G>C (p.Gly33320Ala)
c.97301G>C (p.Gly32434Ala)
c.97220G>C (p.Gly32407Ala)
c.78983G>C (p.Gly26328Ala)
c.68837G>C (p.Gly22946Ala)
2g.178530527C>TCA349407059TTN,TTN-AS1c.98384G>A (p.Gly32795Asp)
c.79469G>A (p.Gly26490Asp)
c.79268G>A (p.Gly26423Asp)
c.78893G>A (p.Gly26298Asp)
c.106088G>A (p.Gly35363Asp)
c.101165G>A (p.Gly33722Asp)
n.446+6891C>T
n.220-5205C>T
c.105185G>A (p.Gly35062Asp)
c.79079G>A (p.Gly26360Asp)
c.78938G>A (p.Gly26313Asp)
c.104981G>A (p.Gly34994Asp)
c.100379G>A (p.Gly33460Asp)
c.100376G>A (p.Gly33459Asp)
c.97418G>A (p.Gly32473Asp)
c.79034G>A (p.Gly26345Asp)
c.100529G>A (p.Gly33510Asp)
c.100526G>A (p.Gly33509Asp)
c.99959G>A (p.Gly33320Asp)
c.97301G>A (p.Gly32434Asp)
c.97220G>A (p.Gly32407Asp)
c.78983G>A (p.Gly26328Asp)
c.68837G>A (p.Gly22946Asp)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530528C>ACA349407062TTN,TTN-AS1c.98383G>T (p.Gly32795Cys)
c.79468G>T (p.Gly26490Cys)
c.79267G>T (p.Gly26423Cys)
c.78892G>T (p.Gly26298Cys)
c.106087G>T (p.Gly35363Cys)
c.101164G>T (p.Gly33722Cys)
n.446+6892C>A
n.220-5204C>A
c.105184G>T (p.Gly35062Cys)
c.79078G>T (p.Gly26360Cys)
c.78937G>T (p.Gly26313Cys)
c.104980G>T (p.Gly34994Cys)
c.100378G>T (p.Gly33460Cys)
c.100375G>T (p.Gly33459Cys)
c.97417G>T (p.Gly32473Cys)
c.79033G>T (p.Gly26345Cys)
c.100528G>T (p.Gly33510Cys)
c.100525G>T (p.Gly33509Cys)
c.99958G>T (p.Gly33320Cys)
c.97300G>T (p.Gly32434Cys)
c.97219G>T (p.Gly32407Cys)
c.78982G>T (p.Gly26328Cys)
c.68836G>T (p.Gly22946Cys)
2g.178530528C=CA1310514720TTN,TTN-AS1c.98383G= (p.Gly32795=)
c.79468G= (p.Gly26490=)
c.79267G= (p.Gly26423=)
c.78892G= (p.Gly26298=)
c.106087G= (p.Gly35363=)
c.101164G= (p.Gly33722=)
n.446+6892C=
n.220-5204C=
c.105184G= (p.Gly35062=)
c.79078G= (p.Gly26360=)
c.78937G= (p.Gly26313=)
c.104980G= (p.Gly34994=)
c.100378G= (p.Gly33460=)
c.100375G= (p.Gly33459=)
c.97417G= (p.Gly32473=)
c.79033G= (p.Gly26345=)
c.100528G= (p.Gly33510=)
c.100525G= (p.Gly33509=)
c.99958G= (p.Gly33320=)
c.97300G= (p.Gly32434=)
c.97219G= (p.Gly32407=)
c.78982G= (p.Gly26328=)
c.68836G= (p.Gly22946=)
2g.178530528C>GCA349407060TTN,TTN-AS1c.98383G>C (p.Gly32795Arg)
c.79468G>C (p.Gly26490Arg)
c.79267G>C (p.Gly26423Arg)
c.78892G>C (p.Gly26298Arg)
c.106087G>C (p.Gly35363Arg)
c.101164G>C (p.Gly33722Arg)
n.446+6892C>G
n.220-5204C>G
c.105184G>C (p.Gly35062Arg)
c.79078G>C (p.Gly26360Arg)
c.78937G>C (p.Gly26313Arg)
c.104980G>C (p.Gly34994Arg)
c.100378G>C (p.Gly33460Arg)
c.100375G>C (p.Gly33459Arg)
c.97417G>C (p.Gly32473Arg)
c.79033G>C (p.Gly26345Arg)
c.100528G>C (p.Gly33510Arg)
c.100525G>C (p.Gly33509Arg)
c.99958G>C (p.Gly33320Arg)
c.97300G>C (p.Gly32434Arg)
c.97219G>C (p.Gly32407Arg)
c.78982G>C (p.Gly26328Arg)
c.68836G>C (p.Gly22946Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530528C>TCA349407061TTN,TTN-AS1c.98383G>A (p.Gly32795Ser)
c.79468G>A (p.Gly26490Ser)
c.79267G>A (p.Gly26423Ser)
c.78892G>A (p.Gly26298Ser)
c.106087G>A (p.Gly35363Ser)
c.101164G>A (p.Gly33722Ser)
n.446+6892C>T
n.220-5204C>T
c.105184G>A (p.Gly35062Ser)
c.79078G>A (p.Gly26360Ser)
c.78937G>A (p.Gly26313Ser)
c.104980G>A (p.Gly34994Ser)
c.100378G>A (p.Gly33460Ser)
c.100375G>A (p.Gly33459Ser)
c.97417G>A (p.Gly32473Ser)
c.79033G>A (p.Gly26345Ser)
c.100528G>A (p.Gly33510Ser)
c.100525G>A (p.Gly33509Ser)
c.99958G>A (p.Gly33320Ser)
c.97300G>A (p.Gly32434Ser)
c.97219G>A (p.Gly32407Ser)
c.78982G>A (p.Gly26328Ser)
c.68836G>A (p.Gly22946Ser)
 ClinVar
2g.178530529A>CCA430235152TTN,TTN-AS1c.98382T>G (p.Ser32794=)
c.79467T>G (p.Ser26489=)
c.79266T>G (p.Ser26422=)
c.78891T>G (p.Ser26297=)
c.106086T>G (p.Ser35362=)
c.101163T>G (p.Ser33721=)
n.446+6893A>C
n.220-5203A>C
c.105183T>G (p.Ser35061=)
c.79077T>G (p.Ser26359=)
c.78936T>G (p.Ser26312=)
c.104979T>G (p.Ser34993=)
c.100377T>G (p.Ser33459=)
c.100374T>G (p.Ser33458=)
c.97416T>G (p.Ser32472=)
c.79032T>G (p.Ser26344=)
c.100527T>G (p.Ser33509=)
c.100524T>G (p.Ser33508=)
c.99957T>G (p.Ser33319=)
c.97299T>G (p.Ser32433=)
c.97218T>G (p.Ser32406=)
c.78981T>G (p.Ser26327=)
c.68835T>G (p.Ser22945=)
2g.178530529A>GCA430235154TTN,TTN-AS1c.98382T>C (p.Ser32794=)
c.79467T>C (p.Ser26489=)
c.79266T>C (p.Ser26422=)
c.78891T>C (p.Ser26297=)
c.106086T>C (p.Ser35362=)
c.101163T>C (p.Ser33721=)
n.446+6893A>G
n.220-5203A>G
c.105183T>C (p.Ser35061=)
c.79077T>C (p.Ser26359=)
c.78936T>C (p.Ser26312=)
c.104979T>C (p.Ser34993=)
c.100377T>C (p.Ser33459=)
c.100374T>C (p.Ser33458=)
c.97416T>C (p.Ser32472=)
c.79032T>C (p.Ser26344=)
c.100527T>C (p.Ser33509=)
c.100524T>C (p.Ser33508=)
c.99957T>C (p.Ser33319=)
c.97299T>C (p.Ser32433=)
c.97218T>C (p.Ser32406=)
c.78981T>C (p.Ser26327=)
c.68835T>C (p.Ser22945=)
 ClinVar
2g.178530529A>TCA430235155TTN,TTN-AS1c.98382T>A (p.Ser32794=)
c.79467T>A (p.Ser26489=)
c.79266T>A (p.Ser26422=)
c.78891T>A (p.Ser26297=)
c.106086T>A (p.Ser35362=)
c.101163T>A (p.Ser33721=)
n.446+6893A>T
n.220-5203A>T
c.105183T>A (p.Ser35061=)
c.79077T>A (p.Ser26359=)
c.78936T>A (p.Ser26312=)
c.104979T>A (p.Ser34993=)
c.100377T>A (p.Ser33459=)
c.100374T>A (p.Ser33458=)
c.97416T>A (p.Ser32472=)
c.79032T>A (p.Ser26344=)
c.100527T>A (p.Ser33509=)
c.100524T>A (p.Ser33508=)
c.99957T>A (p.Ser33319=)
c.97299T>A (p.Ser32433=)
c.97218T>A (p.Ser32406=)
c.78981T>A (p.Ser26327=)
c.68835T>A (p.Ser22945=)
2g.178530530G>ACA349407063TTN,TTN-AS1c.98381C>T (p.Ser32794Phe)
c.79466C>T (p.Ser26489Phe)
c.79265C>T (p.Ser26422Phe)
c.78890C>T (p.Ser26297Phe)
c.106085C>T (p.Ser35362Phe)
c.101162C>T (p.Ser33721Phe)
n.446+6894G>A
n.220-5202G>A
c.105182C>T (p.Ser35061Phe)
c.79076C>T (p.Ser26359Phe)
c.78935C>T (p.Ser26312Phe)
c.104978C>T (p.Ser34993Phe)
c.100376C>T (p.Ser33459Phe)
c.100373C>T (p.Ser33458Phe)
c.97415C>T (p.Ser32472Phe)
c.79031C>T (p.Ser26344Phe)
c.100526C>T (p.Ser33509Phe)
c.100523C>T (p.Ser33508Phe)
c.99956C>T (p.Ser33319Phe)
c.97298C>T (p.Ser32433Phe)
c.97217C>T (p.Ser32406Phe)
c.78980C>T (p.Ser26327Phe)
c.68834C>T (p.Ser22945Phe)
2g.178530530G>CCA349407064TTN,TTN-AS1c.98381C>G (p.Ser32794Cys)
c.79466C>G (p.Ser26489Cys)
c.79265C>G (p.Ser26422Cys)
c.78890C>G (p.Ser26297Cys)
c.106085C>G (p.Ser35362Cys)
c.101162C>G (p.Ser33721Cys)
n.446+6894G>C
n.220-5202G>C
c.105182C>G (p.Ser35061Cys)
c.79076C>G (p.Ser26359Cys)
c.78935C>G (p.Ser26312Cys)
c.104978C>G (p.Ser34993Cys)
c.100376C>G (p.Ser33459Cys)
c.100373C>G (p.Ser33458Cys)
c.97415C>G (p.Ser32472Cys)
c.79031C>G (p.Ser26344Cys)
c.100526C>G (p.Ser33509Cys)
c.100523C>G (p.Ser33508Cys)
c.99956C>G (p.Ser33319Cys)
c.97298C>G (p.Ser32433Cys)
c.97217C>G (p.Ser32406Cys)
c.78980C>G (p.Ser26327Cys)
c.68834C>G (p.Ser22945Cys)
2g.178530530G>TCA349407065TTN,TTN-AS1c.98381C>A (p.Ser32794Tyr)
c.79466C>A (p.Ser26489Tyr)
c.79265C>A (p.Ser26422Tyr)
c.78890C>A (p.Ser26297Tyr)
c.106085C>A (p.Ser35362Tyr)
c.101162C>A (p.Ser33721Tyr)
n.446+6894G>T
n.220-5202G>T
c.105182C>A (p.Ser35061Tyr)
c.79076C>A (p.Ser26359Tyr)
c.78935C>A (p.Ser26312Tyr)
c.104978C>A (p.Ser34993Tyr)
c.100376C>A (p.Ser33459Tyr)
c.100373C>A (p.Ser33458Tyr)
c.97415C>A (p.Ser32472Tyr)
c.79031C>A (p.Ser26344Tyr)
c.100526C>A (p.Ser33509Tyr)
c.100523C>A (p.Ser33508Tyr)
c.99956C>A (p.Ser33319Tyr)
c.97298C>A (p.Ser32433Tyr)
c.97217C>A (p.Ser32406Tyr)
c.78980C>A (p.Ser26327Tyr)
c.68834C>A (p.Ser22945Tyr)
2g.178530531A>CCA349407066TTN,TTN-AS1c.98380T>G (p.Ser32794Ala)
c.79465T>G (p.Ser26489Ala)
c.79264T>G (p.Ser26422Ala)
c.78889T>G (p.Ser26297Ala)
c.106084T>G (p.Ser35362Ala)
c.101161T>G (p.Ser33721Ala)
n.446+6895A>C
n.220-5201A>C
c.105181T>G (p.Ser35061Ala)
c.79075T>G (p.Ser26359Ala)
c.78934T>G (p.Ser26312Ala)
c.104977T>G (p.Ser34993Ala)
c.100375T>G (p.Ser33459Ala)
c.100372T>G (p.Ser33458Ala)
c.97414T>G (p.Ser32472Ala)
c.79030T>G (p.Ser26344Ala)
c.100525T>G (p.Ser33509Ala)
c.100522T>G (p.Ser33508Ala)
c.99955T>G (p.Ser33319Ala)
c.97297T>G (p.Ser32433Ala)
c.97216T>G (p.Ser32406Ala)
c.78979T>G (p.Ser26327Ala)
c.68833T>G (p.Ser22945Ala)
2g.178530531A>GCA349407067TTN,TTN-AS1c.98380T>C (p.Ser32794Pro)
c.79465T>C (p.Ser26489Pro)
c.79264T>C (p.Ser26422Pro)
c.78889T>C (p.Ser26297Pro)
c.106084T>C (p.Ser35362Pro)
c.101161T>C (p.Ser33721Pro)
n.446+6895A>G
n.220-5201A>G
c.105181T>C (p.Ser35061Pro)
c.79075T>C (p.Ser26359Pro)
c.78934T>C (p.Ser26312Pro)
c.104977T>C (p.Ser34993Pro)
c.100375T>C (p.Ser33459Pro)
c.100372T>C (p.Ser33458Pro)
c.97414T>C (p.Ser32472Pro)
c.79030T>C (p.Ser26344Pro)
c.100525T>C (p.Ser33509Pro)
c.100522T>C (p.Ser33508Pro)
c.99955T>C (p.Ser33319Pro)
c.97297T>C (p.Ser32433Pro)
c.97216T>C (p.Ser32406Pro)
c.78979T>C (p.Ser26327Pro)
c.68833T>C (p.Ser22945Pro)
2g.178530531A>TCA349407068TTN,TTN-AS1c.98380T>A (p.Ser32794Thr)
c.79465T>A (p.Ser26489Thr)
c.79264T>A (p.Ser26422Thr)
c.78889T>A (p.Ser26297Thr)
c.106084T>A (p.Ser35362Thr)
c.101161T>A (p.Ser33721Thr)
n.446+6895A>T
n.220-5201A>T
c.105181T>A (p.Ser35061Thr)
c.79075T>A (p.Ser26359Thr)
c.78934T>A (p.Ser26312Thr)
c.104977T>A (p.Ser34993Thr)
c.100375T>A (p.Ser33459Thr)
c.100372T>A (p.Ser33458Thr)
c.97414T>A (p.Ser32472Thr)
c.79030T>A (p.Ser26344Thr)
c.100525T>A (p.Ser33509Thr)
c.100522T>A (p.Ser33508Thr)
c.99955T>A (p.Ser33319Thr)
c.97297T>A (p.Ser32433Thr)
c.97216T>A (p.Ser32406Thr)
c.78979T>A (p.Ser26327Thr)
c.68833T>A (p.Ser22945Thr)
2g.178530532A=CA1310514721TTN,TTN-AS1c.98379T= (p.Ile32793=)
c.79464T= (p.Ile26488=)
c.79263T= (p.Ile26421=)
c.78888T= (p.Ile26296=)
c.106083T= (p.Ile35361=)
c.101160T= (p.Ile33720=)
n.446+6896A=
n.220-5200A=
c.105180T= (p.Ile35060=)
c.79074T= (p.Ile26358=)
c.78933T= (p.Ile26311=)
c.104976T= (p.Ile34992=)
c.100374T= (p.Ile33458=)
c.100371T= (p.Ile33457=)
c.97413T= (p.Ile32471=)
c.79029T= (p.Ile26343=)
c.100524T= (p.Ile33508=)
c.100521T= (p.Ile33507=)
c.99954T= (p.Ile33318=)
c.97296T= (p.Ile32432=)
c.97215T= (p.Ile32405=)
c.78978T= (p.Ile26326=)
c.68832T= (p.Ile22944=)
2g.178530532A>CCA349407069TTN,TTN-AS1c.98379T>G (p.Ile32793Met)
c.79464T>G (p.Ile26488Met)
c.79263T>G (p.Ile26421Met)
c.78888T>G (p.Ile26296Met)
c.106083T>G (p.Ile35361Met)
c.101160T>G (p.Ile33720Met)
n.446+6896A>C
n.220-5200A>C
c.105180T>G (p.Ile35060Met)
c.79074T>G (p.Ile26358Met)
c.78933T>G (p.Ile26311Met)
c.104976T>G (p.Ile34992Met)
c.100374T>G (p.Ile33458Met)
c.100371T>G (p.Ile33457Met)
c.97413T>G (p.Ile32471Met)
c.79029T>G (p.Ile26343Met)
c.100524T>G (p.Ile33508Met)
c.100521T>G (p.Ile33507Met)
c.99954T>G (p.Ile33318Met)
c.97296T>G (p.Ile32432Met)
c.97215T>G (p.Ile32405Met)
c.78978T>G (p.Ile26326Met)
c.68832T>G (p.Ile22944Met)
2g.178530532A>GCA430235159TTN,TTN-AS1c.98379T>C (p.Ile32793=)
c.79464T>C (p.Ile26488=)
c.79263T>C (p.Ile26421=)
c.78888T>C (p.Ile26296=)
c.106083T>C (p.Ile35361=)
c.101160T>C (p.Ile33720=)
n.446+6896A>G
n.220-5200A>G
c.105180T>C (p.Ile35060=)
c.79074T>C (p.Ile26358=)
c.78933T>C (p.Ile26311=)
c.104976T>C (p.Ile34992=)
c.100374T>C (p.Ile33458=)
c.100371T>C (p.Ile33457=)
c.97413T>C (p.Ile32471=)
c.79029T>C (p.Ile26343=)
c.100524T>C (p.Ile33508=)
c.100521T>C (p.Ile33507=)
c.99954T>C (p.Ile33318=)
c.97296T>C (p.Ile32432=)
c.97215T>C (p.Ile32405=)
c.78978T>C (p.Ile26326=)
c.68832T>C (p.Ile22944=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530532A>TCA430235160TTN,TTN-AS1c.98379T>A (p.Ile32793=)
c.79464T>A (p.Ile26488=)
c.79263T>A (p.Ile26421=)
c.78888T>A (p.Ile26296=)
c.106083T>A (p.Ile35361=)
c.101160T>A (p.Ile33720=)
n.446+6896A>T
n.220-5200A>T
c.105180T>A (p.Ile35060=)
c.79074T>A (p.Ile26358=)
c.78933T>A (p.Ile26311=)
c.104976T>A (p.Ile34992=)
c.100374T>A (p.Ile33458=)
c.100371T>A (p.Ile33457=)
c.97413T>A (p.Ile32471=)
c.79029T>A (p.Ile26343=)
c.100524T>A (p.Ile33508=)
c.100521T>A (p.Ile33507=)
c.99954T>A (p.Ile33318=)
c.97296T>A (p.Ile32432=)
c.97215T>A (p.Ile32405=)
c.78978T>A (p.Ile26326=)
c.68832T>A (p.Ile22944=)
2g.178530533A>CCA349407070TTN,TTN-AS1c.98378T>G (p.Ile32793Ser)
c.79463T>G (p.Ile26488Ser)
c.79262T>G (p.Ile26421Ser)
c.78887T>G (p.Ile26296Ser)
c.106082T>G (p.Ile35361Ser)
c.101159T>G (p.Ile33720Ser)
n.446+6897A>C
n.220-5199A>C
c.105179T>G (p.Ile35060Ser)
c.79073T>G (p.Ile26358Ser)
c.78932T>G (p.Ile26311Ser)
c.104975T>G (p.Ile34992Ser)
c.100373T>G (p.Ile33458Ser)
c.100370T>G (p.Ile33457Ser)
c.97412T>G (p.Ile32471Ser)
c.79028T>G (p.Ile26343Ser)
c.100523T>G (p.Ile33508Ser)
c.100520T>G (p.Ile33507Ser)
c.99953T>G (p.Ile33318Ser)
c.97295T>G (p.Ile32432Ser)
c.97214T>G (p.Ile32405Ser)
c.78977T>G (p.Ile26326Ser)
c.68831T>G (p.Ile22944Ser)
2g.178530533A>GCA349407071TTN,TTN-AS1c.98378T>C (p.Ile32793Thr)
c.79463T>C (p.Ile26488Thr)
c.79262T>C (p.Ile26421Thr)
c.78887T>C (p.Ile26296Thr)
c.106082T>C (p.Ile35361Thr)
c.101159T>C (p.Ile33720Thr)
n.446+6897A>G
n.220-5199A>G
c.105179T>C (p.Ile35060Thr)
c.79073T>C (p.Ile26358Thr)
c.78932T>C (p.Ile26311Thr)
c.104975T>C (p.Ile34992Thr)
c.100373T>C (p.Ile33458Thr)
c.100370T>C (p.Ile33457Thr)
c.97412T>C (p.Ile32471Thr)
c.79028T>C (p.Ile26343Thr)
c.100523T>C (p.Ile33508Thr)
c.100520T>C (p.Ile33507Thr)
c.99953T>C (p.Ile33318Thr)
c.97295T>C (p.Ile32432Thr)
c.97214T>C (p.Ile32405Thr)
c.78977T>C (p.Ile26326Thr)
c.68831T>C (p.Ile22944Thr)
2g.178530533A>TCA349407072TTN,TTN-AS1c.98378T>A (p.Ile32793Asn)
c.79463T>A (p.Ile26488Asn)
c.79262T>A (p.Ile26421Asn)
c.78887T>A (p.Ile26296Asn)
c.106082T>A (p.Ile35361Asn)
c.101159T>A (p.Ile33720Asn)
n.446+6897A>T
n.220-5199A>T
c.105179T>A (p.Ile35060Asn)
c.79073T>A (p.Ile26358Asn)
c.78932T>A (p.Ile26311Asn)
c.104975T>A (p.Ile34992Asn)
c.100373T>A (p.Ile33458Asn)
c.100370T>A (p.Ile33457Asn)
c.97412T>A (p.Ile32471Asn)
c.79028T>A (p.Ile26343Asn)
c.100523T>A (p.Ile33508Asn)
c.100520T>A (p.Ile33507Asn)
c.99953T>A (p.Ile33318Asn)
c.97295T>A (p.Ile32432Asn)
c.97214T>A (p.Ile32405Asn)
c.78977T>A (p.Ile26326Asn)
c.68831T>A (p.Ile22944Asn)
2g.178530534T>ACA349407075TTN,TTN-AS1c.98377A>T (p.Ile32793Phe)
c.79462A>T (p.Ile26488Phe)
c.79261A>T (p.Ile26421Phe)
c.78886A>T (p.Ile26296Phe)
c.106081A>T (p.Ile35361Phe)
c.101158A>T (p.Ile33720Phe)
n.446+6898T>A
n.220-5198T>A
c.105178A>T (p.Ile35060Phe)
c.79072A>T (p.Ile26358Phe)
c.78931A>T (p.Ile26311Phe)
c.104974A>T (p.Ile34992Phe)
c.100372A>T (p.Ile33458Phe)
c.100369A>T (p.Ile33457Phe)
c.97411A>T (p.Ile32471Phe)
c.79027A>T (p.Ile26343Phe)
c.100522A>T (p.Ile33508Phe)
c.100519A>T (p.Ile33507Phe)
c.99952A>T (p.Ile33318Phe)
c.97294A>T (p.Ile32432Phe)
c.97213A>T (p.Ile32405Phe)
c.78976A>T (p.Ile26326Phe)
c.68830A>T (p.Ile22944Phe)
2g.178530534T>CCA349407074TTN,TTN-AS1c.98377A>G (p.Ile32793Val)
c.79462A>G (p.Ile26488Val)
c.79261A>G (p.Ile26421Val)
c.78886A>G (p.Ile26296Val)
c.106081A>G (p.Ile35361Val)
c.101158A>G (p.Ile33720Val)
n.446+6898T>C
n.220-5198T>C
c.105178A>G (p.Ile35060Val)
c.79072A>G (p.Ile26358Val)
c.78931A>G (p.Ile26311Val)
c.104974A>G (p.Ile34992Val)
c.100372A>G (p.Ile33458Val)
c.100369A>G (p.Ile33457Val)
c.97411A>G (p.Ile32471Val)
c.79027A>G (p.Ile26343Val)
c.100522A>G (p.Ile33508Val)
c.100519A>G (p.Ile33507Val)
c.99952A>G (p.Ile33318Val)
c.97294A>G (p.Ile32432Val)
c.97213A>G (p.Ile32405Val)
c.78976A>G (p.Ile26326Val)
c.68830A>G (p.Ile22944Val)
 dbSNP
2g.178530534T>GCA349407073TTN,TTN-AS1c.98377A>C (p.Ile32793Leu)
c.79462A>C (p.Ile26488Leu)
c.79261A>C (p.Ile26421Leu)
c.78886A>C (p.Ile26296Leu)
c.106081A>C (p.Ile35361Leu)
c.101158A>C (p.Ile33720Leu)
n.446+6898T>G
n.220-5198T>G
c.105178A>C (p.Ile35060Leu)
c.79072A>C (p.Ile26358Leu)
c.78931A>C (p.Ile26311Leu)
c.104974A>C (p.Ile34992Leu)
c.100372A>C (p.Ile33458Leu)
c.100369A>C (p.Ile33457Leu)
c.97411A>C (p.Ile32471Leu)
c.79027A>C (p.Ile26343Leu)
c.100522A>C (p.Ile33508Leu)
c.100519A>C (p.Ile33507Leu)
c.99952A>C (p.Ile33318Leu)
c.97294A>C (p.Ile32432Leu)
c.97213A>C (p.Ile32405Leu)
c.78976A>C (p.Ile26326Leu)
c.68830A>C (p.Ile22944Leu)
2g.178530535C>ACA349407076TTN,TTN-AS1c.98376G>T (p.Glu32792Asp)
c.79461G>T (p.Glu26487Asp)
c.79260G>T (p.Glu26420Asp)
c.78885G>T (p.Glu26295Asp)
c.106080G>T (p.Glu35360Asp)
c.101157G>T (p.Glu33719Asp)
n.446+6899C>A
n.220-5197C>A
c.105177G>T (p.Glu35059Asp)
c.79071G>T (p.Glu26357Asp)
c.78930G>T (p.Glu26310Asp)
c.104973G>T (p.Glu34991Asp)
c.100371G>T (p.Glu33457Asp)
c.100368G>T (p.Glu33456Asp)
c.97410G>T (p.Glu32470Asp)
c.79026G>T (p.Glu26342Asp)
c.100521G>T (p.Glu33507Asp)
c.100518G>T (p.Glu33506Asp)
c.99951G>T (p.Glu33317Asp)
c.97293G>T (p.Glu32431Asp)
c.97212G>T (p.Glu32404Asp)
c.78975G>T (p.Glu26325Asp)
c.68829G>T (p.Glu22943Asp)
2g.178530535C>GCA349407077TTN,TTN-AS1c.98376G>C (p.Glu32792Asp)
c.79461G>C (p.Glu26487Asp)
c.79260G>C (p.Glu26420Asp)
c.78885G>C (p.Glu26295Asp)
c.106080G>C (p.Glu35360Asp)
c.101157G>C (p.Glu33719Asp)
n.446+6899C>G
n.220-5197C>G
c.105177G>C (p.Glu35059Asp)
c.79071G>C (p.Glu26357Asp)
c.78930G>C (p.Glu26310Asp)
c.104973G>C (p.Glu34991Asp)
c.100371G>C (p.Glu33457Asp)
c.100368G>C (p.Glu33456Asp)
c.97410G>C (p.Glu32470Asp)
c.79026G>C (p.Glu26342Asp)
c.100521G>C (p.Glu33507Asp)
c.100518G>C (p.Glu33506Asp)
c.99951G>C (p.Glu33317Asp)
c.97293G>C (p.Glu32431Asp)
c.97212G>C (p.Glu32404Asp)
c.78975G>C (p.Glu26325Asp)
c.68829G>C (p.Glu22943Asp)
 gnomAD v4
2g.178530535C>TCA430235165TTN,TTN-AS1c.98376G>A (p.Glu32792=)
c.79461G>A (p.Glu26487=)
c.79260G>A (p.Glu26420=)
c.78885G>A (p.Glu26295=)
c.106080G>A (p.Glu35360=)
c.101157G>A (p.Glu33719=)
n.446+6899C>T
n.220-5197C>T
c.105177G>A (p.Glu35059=)
c.79071G>A (p.Glu26357=)
c.78930G>A (p.Glu26310=)
c.104973G>A (p.Glu34991=)
c.100371G>A (p.Glu33457=)
c.100368G>A (p.Glu33456=)
c.97410G>A (p.Glu32470=)
c.79026G>A (p.Glu26342=)
c.100521G>A (p.Glu33507=)
c.100518G>A (p.Glu33506=)
c.99951G>A (p.Glu33317=)
c.97293G>A (p.Glu32431=)
c.97212G>A (p.Glu32404=)
c.78975G>A (p.Glu26325=)
c.68829G>A (p.Glu22943=)
2g.178530536T>ACA349407078TTN,TTN-AS1c.98375A>T (p.Glu32792Val)
c.79460A>T (p.Glu26487Val)
c.79259A>T (p.Glu26420Val)
c.78884A>T (p.Glu26295Val)
c.106079A>T (p.Glu35360Val)
c.101156A>T (p.Glu33719Val)
n.446+6900T>A
n.220-5196T>A
c.105176A>T (p.Glu35059Val)
c.79070A>T (p.Glu26357Val)
c.78929A>T (p.Glu26310Val)
c.104972A>T (p.Glu34991Val)
c.100370A>T (p.Glu33457Val)
c.100367A>T (p.Glu33456Val)
c.97409A>T (p.Glu32470Val)
c.79025A>T (p.Glu26342Val)
c.100520A>T (p.Glu33507Val)
c.100517A>T (p.Glu33506Val)
c.99950A>T (p.Glu33317Val)
c.97292A>T (p.Glu32431Val)
c.97211A>T (p.Glu32404Val)
c.78974A>T (p.Glu26325Val)
c.68828A>T (p.Glu22943Val)
2g.178530536T>CCA349407079TTN,TTN-AS1c.98375A>G (p.Glu32792Gly)
c.79460A>G (p.Glu26487Gly)
c.79259A>G (p.Glu26420Gly)
c.78884A>G (p.Glu26295Gly)
c.106079A>G (p.Glu35360Gly)
c.101156A>G (p.Glu33719Gly)
n.446+6900T>C
n.220-5196T>C
c.105176A>G (p.Glu35059Gly)
c.79070A>G (p.Glu26357Gly)
c.78929A>G (p.Glu26310Gly)
c.104972A>G (p.Glu34991Gly)
c.100370A>G (p.Glu33457Gly)
c.100367A>G (p.Glu33456Gly)
c.97409A>G (p.Glu32470Gly)
c.79025A>G (p.Glu26342Gly)
c.100520A>G (p.Glu33507Gly)
c.100517A>G (p.Glu33506Gly)
c.99950A>G (p.Glu33317Gly)
c.97292A>G (p.Glu32431Gly)
c.97211A>G (p.Glu32404Gly)
c.78974A>G (p.Glu26325Gly)
c.68828A>G (p.Glu22943Gly)
2g.178530536T>GCA349407080TTN,TTN-AS1c.98375A>C (p.Glu32792Ala)
c.79460A>C (p.Glu26487Ala)
c.79259A>C (p.Glu26420Ala)
c.78884A>C (p.Glu26295Ala)
c.106079A>C (p.Glu35360Ala)
c.101156A>C (p.Glu33719Ala)
n.446+6900T>G
n.220-5196T>G
c.105176A>C (p.Glu35059Ala)
c.79070A>C (p.Glu26357Ala)
c.78929A>C (p.Glu26310Ala)
c.104972A>C (p.Glu34991Ala)
c.100370A>C (p.Glu33457Ala)
c.100367A>C (p.Glu33456Ala)
c.97409A>C (p.Glu32470Ala)
c.79025A>C (p.Glu26342Ala)
c.100520A>C (p.Glu33507Ala)
c.100517A>C (p.Glu33506Ala)
c.99950A>C (p.Glu33317Ala)
c.97292A>C (p.Glu32431Ala)
c.97211A>C (p.Glu32404Ala)
c.78974A>C (p.Glu26325Ala)
c.68828A>C (p.Glu22943Ala)
2g.178530537C>ACA349407081TTN,TTN-AS1c.98374G>T (p.Glu32792Ter)
c.79459G>T (p.Glu26487Ter)
c.79258G>T (p.Glu26420Ter)
c.78883G>T (p.Glu26295Ter)
c.106078G>T (p.Glu35360Ter)
c.101155G>T (p.Glu33719Ter)
n.446+6901C>A
n.220-5195C>A
c.105175G>T (p.Glu35059Ter)
c.79069G>T (p.Glu26357Ter)
c.78928G>T (p.Glu26310Ter)
c.104971G>T (p.Glu34991Ter)
c.100369G>T (p.Glu33457Ter)
c.100366G>T (p.Glu33456Ter)
c.97408G>T (p.Glu32470Ter)
c.79024G>T (p.Glu26342Ter)
c.100519G>T (p.Glu33507Ter)
c.100516G>T (p.Glu33506Ter)
c.99949G>T (p.Glu33317Ter)
c.97291G>T (p.Glu32431Ter)
c.97210G>T (p.Glu32404Ter)
c.78973G>T (p.Glu26325Ter)
c.68827G>T (p.Glu22943Ter)
2g.178530537C>GCA349407082TTN,TTN-AS1c.98374G>C (p.Glu32792Gln)
c.79459G>C (p.Glu26487Gln)
c.79258G>C (p.Glu26420Gln)
c.78883G>C (p.Glu26295Gln)
c.106078G>C (p.Glu35360Gln)
c.101155G>C (p.Glu33719Gln)
n.446+6901C>G
n.220-5195C>G
c.105175G>C (p.Glu35059Gln)
c.79069G>C (p.Glu26357Gln)
c.78928G>C (p.Glu26310Gln)
c.104971G>C (p.Glu34991Gln)
c.100369G>C (p.Glu33457Gln)
c.100366G>C (p.Glu33456Gln)
c.97408G>C (p.Glu32470Gln)
c.79024G>C (p.Glu26342Gln)
c.100519G>C (p.Glu33507Gln)
c.100516G>C (p.Glu33506Gln)
c.99949G>C (p.Glu33317Gln)
c.97291G>C (p.Glu32431Gln)
c.97210G>C (p.Glu32404Gln)
c.78973G>C (p.Glu26325Gln)
c.68827G>C (p.Glu22943Gln)
 ClinVar gnomAD v4
2g.178530537C>TCA349407083TTN,TTN-AS1c.98374G>A (p.Glu32792Lys)
c.79459G>A (p.Glu26487Lys)
c.79258G>A (p.Glu26420Lys)
c.78883G>A (p.Glu26295Lys)
c.106078G>A (p.Glu35360Lys)
c.101155G>A (p.Glu33719Lys)
n.446+6901C>T
n.220-5195C>T
c.105175G>A (p.Glu35059Lys)
c.79069G>A (p.Glu26357Lys)
c.78928G>A (p.Glu26310Lys)
c.104971G>A (p.Glu34991Lys)
c.100369G>A (p.Glu33457Lys)
c.100366G>A (p.Glu33456Lys)
c.97408G>A (p.Glu32470Lys)
c.79024G>A (p.Glu26342Lys)
c.100519G>A (p.Glu33507Lys)
c.100516G>A (p.Glu33506Lys)
c.99949G>A (p.Glu33317Lys)
c.97291G>A (p.Glu32431Lys)
c.97210G>A (p.Glu32404Lys)
c.78973G>A (p.Glu26325Lys)
c.68827G>A (p.Glu22943Lys)
2g.178530537_178530541delinsCACAACA1310514723TTN,TTN-AS1c.98370_98374delinsTTGTG (p.Val32790=)
c.79455_79459delinsTTGTG (p.Val26485=)
c.79254_79258delinsTTGTG (p.Val26418=)
c.78879_78883delinsTTGTG (p.Val26293=)
c.106074_106078delinsTTGTG (p.Val35358=)
c.101151_101155delinsTTGTG (p.Val33717=)
n.446+6901_446+6905delinsCACAA
n.220-5195_220-5191delinsCACAA
c.105171_105175delinsTTGTG (p.Val35057=)
c.79065_79069delinsTTGTG (p.Val26355=)
c.78924_78928delinsTTGTG (p.Val26308=)
c.104967_104971delinsTTGTG (p.Val34989=)
c.100365_100369delinsTTGTG (p.Val33455=)
c.100362_100366delinsTTGTG (p.Val33454=)
c.97404_97408delinsTTGTG (p.Val32468=)
c.79020_79024delinsTTGTG (p.Val26340=)
c.100515_100519delinsTTGTG (p.Val33505=)
c.100512_100516delinsTTGTG (p.Val33504=)
c.99945_99949delinsTTGTG (p.Val33315=)
c.97287_97291delinsTTGTG (p.Val32429=)
c.97206_97210delinsTTGTG (p.Val32402=)
c.78969_78973delinsTTGTG (p.Val26323=)
c.68823_68827delinsTTGTG (p.Val22941=)
2g.178530538A>CCA349407084TTN,TTN-AS1c.98373T>G (p.Cys32791Trp)
c.79458T>G (p.Cys26486Trp)
c.79257T>G (p.Cys26419Trp)
c.78882T>G (p.Cys26294Trp)
c.106077T>G (p.Cys35359Trp)
c.101154T>G (p.Cys33718Trp)
n.446+6902A>C
n.220-5194A>C
c.105174T>G (p.Cys35058Trp)
c.79068T>G (p.Cys26356Trp)
c.78927T>G (p.Cys26309Trp)
c.104970T>G (p.Cys34990Trp)
c.100368T>G (p.Cys33456Trp)
c.100365T>G (p.Cys33455Trp)
c.97407T>G (p.Cys32469Trp)
c.79023T>G (p.Cys26341Trp)
c.100518T>G (p.Cys33506Trp)
c.100515T>G (p.Cys33505Trp)
c.99948T>G (p.Cys33316Trp)
c.97290T>G (p.Cys32430Trp)
c.97209T>G (p.Cys32403Trp)
c.78972T>G (p.Cys26324Trp)
c.68826T>G (p.Cys22942Trp)
 gnomAD v4
2g.178530538A>GCA430235168TTN,TTN-AS1c.98373T>C (p.Cys32791=)
c.79458T>C (p.Cys26486=)
c.79257T>C (p.Cys26419=)
c.78882T>C (p.Cys26294=)
c.106077T>C (p.Cys35359=)
c.101154T>C (p.Cys33718=)
n.446+6902A>G
n.220-5194A>G
c.105174T>C (p.Cys35058=)
c.79068T>C (p.Cys26356=)
c.78927T>C (p.Cys26309=)
c.104970T>C (p.Cys34990=)
c.100368T>C (p.Cys33456=)
c.100365T>C (p.Cys33455=)
c.97407T>C (p.Cys32469=)
c.79023T>C (p.Cys26341=)
c.100518T>C (p.Cys33506=)
c.100515T>C (p.Cys33505=)
c.99948T>C (p.Cys33316=)
c.97290T>C (p.Cys32430=)
c.97209T>C (p.Cys32403=)
c.78972T>C (p.Cys26324=)
c.68826T>C (p.Cys22942=)
2g.178530538A>TCA349407085TTN,TTN-AS1c.98373T>A (p.Cys32791Ter)
c.79458T>A (p.Cys26486Ter)
c.79257T>A (p.Cys26419Ter)
c.78882T>A (p.Cys26294Ter)
c.106077T>A (p.Cys35359Ter)
c.101154T>A (p.Cys33718Ter)
n.446+6902A>T
n.220-5194A>T
c.105174T>A (p.Cys35058Ter)
c.79068T>A (p.Cys26356Ter)
c.78927T>A (p.Cys26309Ter)
c.104970T>A (p.Cys34990Ter)
c.100368T>A (p.Cys33456Ter)
c.100365T>A (p.Cys33455Ter)
c.97407T>A (p.Cys32469Ter)
c.79023T>A (p.Cys26341Ter)
c.100518T>A (p.Cys33506Ter)
c.100515T>A (p.Cys33505Ter)
c.99948T>A (p.Cys33316Ter)
c.97290T>A (p.Cys32430Ter)
c.97209T>A (p.Cys32403Ter)
c.78972T>A (p.Cys26324Ter)
c.68826T>A (p.Cys22942Ter)
2g.178530541_178530544delCA538434968TTN,TTN-AS1c.98370_98373del (p.Cys32791ArgfsTer?)
c.79455_79458del (p.Cys26486ArgfsTer?)
c.79254_79257del (p.Cys26419ArgfsTer?)
c.78879_78882del (p.Cys26294ArgfsTer?)
c.106074_106077del (p.Cys35359ArgfsTer?)
c.101151_101154del (p.Cys33718ArgfsTer?)
n.446+6905_446+6908del
n.220-5191_220-5188del
c.105171_105174del (p.Cys35058ArgfsTer?)
c.79065_79068del (p.Cys26356ArgfsTer?)
c.78924_78927del (p.Cys26309ArgfsTer?)
c.104967_104970del (p.Cys34990ArgfsTer?)
c.100365_100368del (p.Cys33456ArgfsTer?)
c.100362_100365del (p.Cys33455ArgfsTer?)
c.97404_97407del (p.Cys32469ArgfsTer?)
c.79020_79023del (p.Cys26341ArgfsTer?)
c.100515_100518del (p.Cys33506ArgfsTer?)
c.100512_100515del (p.Cys33505ArgfsTer?)
c.99945_99948del (p.Cys33316ArgfsTer?)
c.97287_97290del (p.Cys32430ArgfsTer?)
c.97206_97209del (p.Cys32403ArgfsTer?)
c.78969_78972del (p.Cys26324ArgfsTer?)
c.68823_68826del (p.Cys22942ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.178530539C>ACA349407086TTN,TTN-AS1c.98372G>T (p.Cys32791Phe)
c.79457G>T (p.Cys26486Phe)
c.79256G>T (p.Cys26419Phe)
c.78881G>T (p.Cys26294Phe)
c.106076G>T (p.Cys35359Phe)
c.101153G>T (p.Cys33718Phe)
n.446+6903C>A
n.220-5193C>A
c.105173G>T (p.Cys35058Phe)
c.79067G>T (p.Cys26356Phe)
c.78926G>T (p.Cys26309Phe)
c.104969G>T (p.Cys34990Phe)
c.100367G>T (p.Cys33456Phe)
c.100364G>T (p.Cys33455Phe)
c.97406G>T (p.Cys32469Phe)
c.79022G>T (p.Cys26341Phe)
c.100517G>T (p.Cys33506Phe)
c.100514G>T (p.Cys33505Phe)
c.99947G>T (p.Cys33316Phe)
c.97289G>T (p.Cys32430Phe)
c.97208G>T (p.Cys32403Phe)
c.78971G>T (p.Cys26324Phe)
c.68825G>T (p.Cys22942Phe)
2g.178530539C>GCA349407087TTN,TTN-AS1c.98372G>C (p.Cys32791Ser)
c.79457G>C (p.Cys26486Ser)
c.79256G>C (p.Cys26419Ser)
c.78881G>C (p.Cys26294Ser)
c.106076G>C (p.Cys35359Ser)
c.101153G>C (p.Cys33718Ser)
n.446+6903C>G
n.220-5193C>G
c.105173G>C (p.Cys35058Ser)
c.79067G>C (p.Cys26356Ser)
c.78926G>C (p.Cys26309Ser)
c.104969G>C (p.Cys34990Ser)
c.100367G>C (p.Cys33456Ser)
c.100364G>C (p.Cys33455Ser)
c.97406G>C (p.Cys32469Ser)
c.79022G>C (p.Cys26341Ser)
c.100517G>C (p.Cys33506Ser)
c.100514G>C (p.Cys33505Ser)
c.99947G>C (p.Cys33316Ser)
c.97289G>C (p.Cys32430Ser)
c.97208G>C (p.Cys32403Ser)
c.78971G>C (p.Cys26324Ser)
c.68825G>C (p.Cys22942Ser)
2g.178530539C>TCA349407088TTN,TTN-AS1c.98372G>A (p.Cys32791Tyr)
c.79457G>A (p.Cys26486Tyr)
c.79256G>A (p.Cys26419Tyr)
c.78881G>A (p.Cys26294Tyr)
c.106076G>A (p.Cys35359Tyr)
c.101153G>A (p.Cys33718Tyr)
n.446+6903C>T
n.220-5193C>T
c.105173G>A (p.Cys35058Tyr)
c.79067G>A (p.Cys26356Tyr)
c.78926G>A (p.Cys26309Tyr)
c.104969G>A (p.Cys34990Tyr)
c.100367G>A (p.Cys33456Tyr)
c.100364G>A (p.Cys33455Tyr)
c.97406G>A (p.Cys32469Tyr)
c.79022G>A (p.Cys26341Tyr)
c.100517G>A (p.Cys33506Tyr)
c.100514G>A (p.Cys33505Tyr)
c.99947G>A (p.Cys33316Tyr)
c.97289G>A (p.Cys32430Tyr)
c.97208G>A (p.Cys32403Tyr)
c.78971G>A (p.Cys26324Tyr)
c.68825G>A (p.Cys22942Tyr)
 gnomAD v4
2g.178530540A=CA1310514725TTN,TTN-AS1c.98371T= (p.Cys32791=)
c.79456T= (p.Cys26486=)
c.79255T= (p.Cys26419=)
c.78880T= (p.Cys26294=)
c.106075T= (p.Cys35359=)
c.101152T= (p.Cys33718=)
n.446+6904A=
n.220-5192A=
c.105172T= (p.Cys35058=)
c.79066T= (p.Cys26356=)
c.78925T= (p.Cys26309=)
c.104968T= (p.Cys34990=)
c.100366T= (p.Cys33456=)
c.100363T= (p.Cys33455=)
c.97405T= (p.Cys32469=)
c.79021T= (p.Cys26341=)
c.100516T= (p.Cys33506=)
c.100513T= (p.Cys33505=)
c.99946T= (p.Cys33316=)
c.97288T= (p.Cys32430=)
c.97207T= (p.Cys32403=)
c.78970T= (p.Cys26324=)
c.68824T= (p.Cys22942=)
2g.178530540A>CCA349407089TTN,TTN-AS1c.98371T>G (p.Cys32791Gly)
c.79456T>G (p.Cys26486Gly)
c.79255T>G (p.Cys26419Gly)
c.78880T>G (p.Cys26294Gly)
c.106075T>G (p.Cys35359Gly)
c.101152T>G (p.Cys33718Gly)
n.446+6904A>C
n.220-5192A>C
c.105172T>G (p.Cys35058Gly)
c.79066T>G (p.Cys26356Gly)
c.78925T>G (p.Cys26309Gly)
c.104968T>G (p.Cys34990Gly)
c.100366T>G (p.Cys33456Gly)
c.100363T>G (p.Cys33455Gly)
c.97405T>G (p.Cys32469Gly)
c.79021T>G (p.Cys26341Gly)
c.100516T>G (p.Cys33506Gly)
c.100513T>G (p.Cys33505Gly)
c.99946T>G (p.Cys33316Gly)
c.97288T>G (p.Cys32430Gly)
c.97207T>G (p.Cys32403Gly)
c.78970T>G (p.Cys26324Gly)
c.68824T>G (p.Cys22942Gly)
2g.178530540A>GCA349407091TTN,TTN-AS1c.98371T>C (p.Cys32791Arg)
c.79456T>C (p.Cys26486Arg)
c.79255T>C (p.Cys26419Arg)
c.78880T>C (p.Cys26294Arg)
c.106075T>C (p.Cys35359Arg)
c.101152T>C (p.Cys33718Arg)
n.446+6904A>G
n.220-5192A>G
c.105172T>C (p.Cys35058Arg)
c.79066T>C (p.Cys26356Arg)
c.78925T>C (p.Cys26309Arg)
c.104968T>C (p.Cys34990Arg)
c.100366T>C (p.Cys33456Arg)
c.100363T>C (p.Cys33455Arg)
c.97405T>C (p.Cys32469Arg)
c.79021T>C (p.Cys26341Arg)
c.100516T>C (p.Cys33506Arg)
c.100513T>C (p.Cys33505Arg)
c.99946T>C (p.Cys33316Arg)
c.97288T>C (p.Cys32430Arg)
c.97207T>C (p.Cys32403Arg)
c.78970T>C (p.Cys26324Arg)
c.68824T>C (p.Cys22942Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530540A>TCA349407090TTN,TTN-AS1c.98371T>A (p.Cys32791Ser)
c.79456T>A (p.Cys26486Ser)
c.79255T>A (p.Cys26419Ser)
c.78880T>A (p.Cys26294Ser)
c.106075T>A (p.Cys35359Ser)
c.101152T>A (p.Cys33718Ser)
n.446+6904A>T
n.220-5192A>T
c.105172T>A (p.Cys35058Ser)
c.79066T>A (p.Cys26356Ser)
c.78925T>A (p.Cys26309Ser)
c.104968T>A (p.Cys34990Ser)
c.100366T>A (p.Cys33456Ser)
c.100363T>A (p.Cys33455Ser)
c.97405T>A (p.Cys32469Ser)
c.79021T>A (p.Cys26341Ser)
c.100516T>A (p.Cys33506Ser)
c.100513T>A (p.Cys33505Ser)
c.99946T>A (p.Cys33316Ser)
c.97288T>A (p.Cys32430Ser)
c.97207T>A (p.Cys32403Ser)
c.78970T>A (p.Cys26324Ser)
c.68824T>A (p.Cys22942Ser)
2g.178530541A=CA1310514727TTN,TTN-AS1c.98370T= (p.Val32790=)
c.79455T= (p.Val26485=)
c.79254T= (p.Val26418=)
c.78879T= (p.Val26293=)
c.106074T= (p.Val35358=)
c.101151T= (p.Val33717=)
n.446+6905A=
n.220-5191A=
c.105171T= (p.Val35057=)
c.79065T= (p.Val26355=)
c.78924T= (p.Val26308=)
c.104967T= (p.Val34989=)
c.100365T= (p.Val33455=)
c.100362T= (p.Val33454=)
c.97404T= (p.Val32468=)
c.79020T= (p.Val26340=)
c.100515T= (p.Val33505=)
c.100512T= (p.Val33504=)
c.99945T= (p.Val33315=)
c.97287T= (p.Val32429=)
c.97206T= (p.Val32402=)
c.78969T= (p.Val26323=)
c.68823T= (p.Val22941=)
2g.178530541A>CCA430235177TTN,TTN-AS1c.98370T>G (p.Val32790=)
c.79455T>G (p.Val26485=)
c.79254T>G (p.Val26418=)
c.78879T>G (p.Val26293=)
c.106074T>G (p.Val35358=)
c.101151T>G (p.Val33717=)
n.446+6905A>C
n.220-5191A>C
c.105171T>G (p.Val35057=)
c.79065T>G (p.Val26355=)
c.78924T>G (p.Val26308=)
c.104967T>G (p.Val34989=)
c.100365T>G (p.Val33455=)
c.100362T>G (p.Val33454=)
c.97404T>G (p.Val32468=)
c.79020T>G (p.Val26340=)
c.100515T>G (p.Val33505=)
c.100512T>G (p.Val33504=)
c.99945T>G (p.Val33315=)
c.97287T>G (p.Val32429=)
c.97206T>G (p.Val32402=)
c.78969T>G (p.Val26323=)
c.68823T>G (p.Val22941=)
2g.178530541A>GCA430235175TTN,TTN-AS1c.98370T>C (p.Val32790=)
c.79455T>C (p.Val26485=)
c.79254T>C (p.Val26418=)
c.78879T>C (p.Val26293=)
c.106074T>C (p.Val35358=)
c.101151T>C (p.Val33717=)
n.446+6905A>G
n.220-5191A>G
c.105171T>C (p.Val35057=)
c.79065T>C (p.Val26355=)
c.78924T>C (p.Val26308=)
c.104967T>C (p.Val34989=)
c.100365T>C (p.Val33455=)
c.100362T>C (p.Val33454=)
c.97404T>C (p.Val32468=)
c.79020T>C (p.Val26340=)
c.100515T>C (p.Val33505=)
c.100512T>C (p.Val33504=)
c.99945T>C (p.Val33315=)
c.97287T>C (p.Val32429=)
c.97206T>C (p.Val32402=)
c.78969T>C (p.Val26323=)
c.68823T>C (p.Val22941=)
 dbSNP
2g.178530541A>TCA430235176TTN,TTN-AS1c.98370T>A (p.Val32790=)
c.79455T>A (p.Val26485=)
c.79254T>A (p.Val26418=)
c.78879T>A (p.Val26293=)
c.106074T>A (p.Val35358=)
c.101151T>A (p.Val33717=)
n.446+6905A>T
n.220-5191A>T
c.105171T>A (p.Val35057=)
c.79065T>A (p.Val26355=)
c.78924T>A (p.Val26308=)
c.104967T>A (p.Val34989=)
c.100365T>A (p.Val33455=)
c.100362T>A (p.Val33454=)
c.97404T>A (p.Val32468=)
c.79020T>A (p.Val26340=)
c.100515T>A (p.Val33505=)
c.100512T>A (p.Val33504=)
c.99945T>A (p.Val33315=)
c.97287T>A (p.Val32429=)
c.97206T>A (p.Val32402=)
c.78969T>A (p.Val26323=)
c.68823T>A (p.Val22941=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530542A=CA1310514730TTN,TTN-AS1c.98369T= (p.Val32790=)
c.79454T= (p.Val26485=)
c.79253T= (p.Val26418=)
c.78878T= (p.Val26293=)
c.106073T= (p.Val35358=)
c.101150T= (p.Val33717=)
n.446+6906A=
n.220-5190A=
c.105170T= (p.Val35057=)
c.79064T= (p.Val26355=)
c.78923T= (p.Val26308=)
c.104966T= (p.Val34989=)
c.100364T= (p.Val33455=)
c.100361T= (p.Val33454=)
c.97403T= (p.Val32468=)
c.79019T= (p.Val26340=)
c.100514T= (p.Val33505=)
c.100511T= (p.Val33504=)
c.99944T= (p.Val33315=)
c.97286T= (p.Val32429=)
c.97205T= (p.Val32402=)
c.78968T= (p.Val26323=)
c.68822T= (p.Val22941=)
2g.178530542A>CCA349407092TTN,TTN-AS1c.98369T>G (p.Val32790Gly)
c.79454T>G (p.Val26485Gly)
c.79253T>G (p.Val26418Gly)
c.78878T>G (p.Val26293Gly)
c.106073T>G (p.Val35358Gly)
c.101150T>G (p.Val33717Gly)
n.446+6906A>C
n.220-5190A>C
c.105170T>G (p.Val35057Gly)
c.79064T>G (p.Val26355Gly)
c.78923T>G (p.Val26308Gly)
c.104966T>G (p.Val34989Gly)
c.100364T>G (p.Val33455Gly)
c.100361T>G (p.Val33454Gly)
c.97403T>G (p.Val32468Gly)
c.79019T>G (p.Val26340Gly)
c.100514T>G (p.Val33505Gly)
c.100511T>G (p.Val33504Gly)
c.99944T>G (p.Val33315Gly)
c.97286T>G (p.Val32429Gly)
c.97205T>G (p.Val32402Gly)
c.78968T>G (p.Val26323Gly)
c.68822T>G (p.Val22941Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178530542A>GCA349407093TTN,TTN-AS1c.98369T>C (p.Val32790Ala)
c.79454T>C (p.Val26485Ala)
c.79253T>C (p.Val26418Ala)
c.78878T>C (p.Val26293Ala)
c.106073T>C (p.Val35358Ala)
c.101150T>C (p.Val33717Ala)
n.446+6906A>G
n.220-5190A>G
c.105170T>C (p.Val35057Ala)
c.79064T>C (p.Val26355Ala)
c.78923T>C (p.Val26308Ala)
c.104966T>C (p.Val34989Ala)
c.100364T>C (p.Val33455Ala)
c.100361T>C (p.Val33454Ala)
c.97403T>C (p.Val32468Ala)
c.79019T>C (p.Val26340Ala)
c.100514T>C (p.Val33505Ala)
c.100511T>C (p.Val33504Ala)
c.99944T>C (p.Val33315Ala)
c.97286T>C (p.Val32429Ala)
c.97205T>C (p.Val32402Ala)
c.78968T>C (p.Val26323Ala)
c.68822T>C (p.Val22941Ala)
2g.178530542A>TCA349407094TTN,TTN-AS1c.98369T>A (p.Val32790Asp)
c.79454T>A (p.Val26485Asp)
c.79253T>A (p.Val26418Asp)
c.78878T>A (p.Val26293Asp)
c.106073T>A (p.Val35358Asp)
c.101150T>A (p.Val33717Asp)
n.446+6906A>T
n.220-5190A>T
c.105170T>A (p.Val35057Asp)
c.79064T>A (p.Val26355Asp)
c.78923T>A (p.Val26308Asp)
c.104966T>A (p.Val34989Asp)
c.100364T>A (p.Val33455Asp)
c.100361T>A (p.Val33454Asp)
c.97403T>A (p.Val32468Asp)
c.79019T>A (p.Val26340Asp)
c.100514T>A (p.Val33505Asp)
c.100511T>A (p.Val33504Asp)
c.99944T>A (p.Val33315Asp)
c.97286T>A (p.Val32429Asp)
c.97205T>A (p.Val32402Asp)
c.78968T>A (p.Val26323Asp)
c.68822T>A (p.Val22941Asp)
 ClinVar dbSNP gnomAD v4
2g.178530543C>ACA349407095TTN,TTN-AS1c.98368G>T (p.Val32790Phe)
c.79453G>T (p.Val26485Phe)
c.79252G>T (p.Val26418Phe)
c.78877G>T (p.Val26293Phe)
c.106072G>T (p.Val35358Phe)
c.101149G>T (p.Val33717Phe)
n.446+6907C>A
n.220-5189C>A
c.105169G>T (p.Val35057Phe)
c.79063G>T (p.Val26355Phe)
c.78922G>T (p.Val26308Phe)
c.104965G>T (p.Val34989Phe)
c.100363G>T (p.Val33455Phe)
c.100360G>T (p.Val33454Phe)
c.97402G>T (p.Val32468Phe)
c.79018G>T (p.Val26340Phe)
c.100513G>T (p.Val33505Phe)
c.100510G>T (p.Val33504Phe)
c.99943G>T (p.Val33315Phe)
c.97285G>T (p.Val32429Phe)
c.97204G>T (p.Val32402Phe)
c.78967G>T (p.Val26323Phe)
c.68821G>T (p.Val22941Phe)
2g.178530543C>GCA349407096TTN,TTN-AS1c.98368G>C (p.Val32790Leu)
c.79453G>C (p.Val26485Leu)
c.79252G>C (p.Val26418Leu)
c.78877G>C (p.Val26293Leu)
c.106072G>C (p.Val35358Leu)
c.101149G>C (p.Val33717Leu)
n.446+6907C>G
n.220-5189C>G
c.105169G>C (p.Val35057Leu)
c.79063G>C (p.Val26355Leu)
c.78922G>C (p.Val26308Leu)
c.104965G>C (p.Val34989Leu)
c.100363G>C (p.Val33455Leu)
c.100360G>C (p.Val33454Leu)
c.97402G>C (p.Val32468Leu)
c.79018G>C (p.Val26340Leu)
c.100513G>C (p.Val33505Leu)
c.100510G>C (p.Val33504Leu)
c.99943G>C (p.Val33315Leu)
c.97285G>C (p.Val32429Leu)
c.97204G>C (p.Val32402Leu)
c.78967G>C (p.Val26323Leu)
c.68821G>C (p.Val22941Leu)
2g.178530543C>TCA349407097TTN,TTN-AS1c.98368G>A (p.Val32790Ile)
c.79453G>A (p.Val26485Ile)
c.79252G>A (p.Val26418Ile)
c.78877G>A (p.Val26293Ile)
c.106072G>A (p.Val35358Ile)
c.101149G>A (p.Val33717Ile)
n.446+6907C>T
n.220-5189C>T
c.105169G>A (p.Val35057Ile)
c.79063G>A (p.Val26355Ile)
c.78922G>A (p.Val26308Ile)
c.104965G>A (p.Val34989Ile)
c.100363G>A (p.Val33455Ile)
c.100360G>A (p.Val33454Ile)
c.97402G>A (p.Val32468Ile)
c.79018G>A (p.Val26340Ile)
c.100513G>A (p.Val33505Ile)
c.100510G>A (p.Val33504Ile)
c.99943G>A (p.Val33315Ile)
c.97285G>A (p.Val32429Ile)
c.97204G>A (p.Val32402Ile)
c.78967G>A (p.Val26323Ile)
c.68821G>A (p.Val22941Ile)
 ClinVar dbSNP
2g.178530544A>CCA349407098TTN,TTN-AS1c.98367T>G (p.Tyr32789Ter)
c.79452T>G (p.Tyr26484Ter)
c.79251T>G (p.Tyr26417Ter)
c.78876T>G (p.Tyr26292Ter)
c.106071T>G (p.Tyr35357Ter)
c.101148T>G (p.Tyr33716Ter)
n.446+6908A>C
n.220-5188A>C
c.105168T>G (p.Tyr35056Ter)
c.79062T>G (p.Tyr26354Ter)
c.78921T>G (p.Tyr26307Ter)
c.104964T>G (p.Tyr34988Ter)
c.100362T>G (p.Tyr33454Ter)
c.100359T>G (p.Tyr33453Ter)
c.97401T>G (p.Tyr32467Ter)
c.79017T>G (p.Tyr26339Ter)
c.100512T>G (p.Tyr33504Ter)
c.100509T>G (p.Tyr33503Ter)
c.99942T>G (p.Tyr33314Ter)
c.97284T>G (p.Tyr32428Ter)
c.97203T>G (p.Tyr32401Ter)
c.78966T>G (p.Tyr26322Ter)
c.68820T>G (p.Tyr22940Ter)
2g.178530544A>GCA430235182TTN,TTN-AS1c.98367T>C (p.Tyr32789=)
c.79452T>C (p.Tyr26484=)
c.79251T>C (p.Tyr26417=)
c.78876T>C (p.Tyr26292=)
c.106071T>C (p.Tyr35357=)
c.101148T>C (p.Tyr33716=)
n.446+6908A>G
n.220-5188A>G
c.105168T>C (p.Tyr35056=)
c.79062T>C (p.Tyr26354=)
c.78921T>C (p.Tyr26307=)
c.104964T>C (p.Tyr34988=)
c.100362T>C (p.Tyr33454=)
c.100359T>C (p.Tyr33453=)
c.97401T>C (p.Tyr32467=)
c.79017T>C (p.Tyr26339=)
c.100512T>C (p.Tyr33504=)
c.100509T>C (p.Tyr33503=)
c.99942T>C (p.Tyr33314=)
c.97284T>C (p.Tyr32428=)
c.97203T>C (p.Tyr32401=)
c.78966T>C (p.Tyr26322=)
c.68820T>C (p.Tyr22940=)
 dbSNP gnomAD v4
2g.178530544A>TCA349407099TTN,TTN-AS1c.98367T>A (p.Tyr32789Ter)
c.79452T>A (p.Tyr26484Ter)
c.79251T>A (p.Tyr26417Ter)
c.78876T>A (p.Tyr26292Ter)
c.106071T>A (p.Tyr35357Ter)
c.101148T>A (p.Tyr33716Ter)
n.446+6908A>T
n.220-5188A>T
c.105168T>A (p.Tyr35056Ter)
c.79062T>A (p.Tyr26354Ter)
c.78921T>A (p.Tyr26307Ter)
c.104964T>A (p.Tyr34988Ter)
c.100362T>A (p.Tyr33454Ter)
c.100359T>A (p.Tyr33453Ter)
c.97401T>A (p.Tyr32467Ter)
c.79017T>A (p.Tyr26339Ter)
c.100512T>A (p.Tyr33504Ter)
c.100509T>A (p.Tyr33503Ter)
c.99942T>A (p.Tyr33314Ter)
c.97284T>A (p.Tyr32428Ter)
c.97203T>A (p.Tyr32401Ter)
c.78966T>A (p.Tyr26322Ter)
c.68820T>A (p.Tyr22940Ter)
2g.178530546_178530547delCA2831039924TTN,TTN-AS1c.98366_98367del (p.Tyr32789CysfsTer3)
c.79451_79452del (p.Tyr26484CysfsTer3)
c.79250_79251del (p.Tyr26417CysfsTer3)
c.78875_78876del (p.Tyr26292CysfsTer3)
c.106070_106071del (p.Tyr35357CysfsTer3)
c.101147_101148del (p.Tyr33716CysfsTer3)
n.446+6910_446+6911del
n.220-5186_220-5185del
c.105167_105168del (p.Tyr35056CysfsTer3)
c.79061_79062del (p.Tyr26354CysfsTer3)
c.78920_78921del (p.Tyr26307CysfsTer3)
c.104963_104964del (p.Tyr34988CysfsTer3)
c.100361_100362del (p.Tyr33454CysfsTer3)
c.100358_100359del (p.Tyr33453CysfsTer3)
c.97400_97401del (p.Tyr32467CysfsTer3)
c.79016_79017del (p.Tyr26339CysfsTer3)
c.100511_100512del (p.Tyr33504CysfsTer3)
c.100508_100509del (p.Tyr33503CysfsTer3)
c.99941_99942del (p.Tyr33314CysfsTer3)
c.97283_97284del (p.Tyr32428CysfsTer3)
c.97202_97203del (p.Tyr32401CysfsTer3)
c.78965_78966del (p.Tyr26322CysfsTer3)
c.68819_68820del (p.Tyr22940CysfsTer3)
2g.178530545T>ACA349407100TTN,TTN-AS1c.98366A>T (p.Tyr32789Phe)
c.79451A>T (p.Tyr26484Phe)
c.79250A>T (p.Tyr26417Phe)
c.78875A>T (p.Tyr26292Phe)
c.106070A>T (p.Tyr35357Phe)
c.101147A>T (p.Tyr33716Phe)
n.446+6909T>A
n.220-5187T>A
c.105167A>T (p.Tyr35056Phe)
c.79061A>T (p.Tyr26354Phe)
c.78920A>T (p.Tyr26307Phe)
c.104963A>T (p.Tyr34988Phe)
c.100361A>T (p.Tyr33454Phe)
c.100358A>T (p.Tyr33453Phe)
c.97400A>T (p.Tyr32467Phe)
c.79016A>T (p.Tyr26339Phe)
c.100511A>T (p.Tyr33504Phe)
c.100508A>T (p.Tyr33503Phe)
c.99941A>T (p.Tyr33314Phe)
c.97283A>T (p.Tyr32428Phe)
c.97202A>T (p.Tyr32401Phe)
c.78965A>T (p.Tyr26322Phe)
c.68819A>T (p.Tyr22940Phe)
2g.178530545T>CCA349407101TTN,TTN-AS1c.98366A>G (p.Tyr32789Cys)
c.79451A>G (p.Tyr26484Cys)
c.79250A>G (p.Tyr26417Cys)
c.78875A>G (p.Tyr26292Cys)
c.106070A>G (p.Tyr35357Cys)
c.101147A>G (p.Tyr33716Cys)
n.446+6909T>C
n.220-5187T>C
c.105167A>G (p.Tyr35056Cys)
c.79061A>G (p.Tyr26354Cys)
c.78920A>G (p.Tyr26307Cys)
c.104963A>G (p.Tyr34988Cys)
c.100361A>G (p.Tyr33454Cys)
c.100358A>G (p.Tyr33453Cys)
c.97400A>G (p.Tyr32467Cys)
c.79016A>G (p.Tyr26339Cys)
c.100511A>G (p.Tyr33504Cys)
c.100508A>G (p.Tyr33503Cys)
c.99941A>G (p.Tyr33314Cys)
c.97283A>G (p.Tyr32428Cys)
c.97202A>G (p.Tyr32401Cys)
c.78965A>G (p.Tyr26322Cys)
c.68819A>G (p.Tyr22940Cys)
2g.178530545T>GCA349407102TTN,TTN-AS1c.98366A>C (p.Tyr32789Ser)
c.79451A>C (p.Tyr26484Ser)
c.79250A>C (p.Tyr26417Ser)
c.78875A>C (p.Tyr26292Ser)
c.106070A>C (p.Tyr35357Ser)
c.101147A>C (p.Tyr33716Ser)
n.446+6909T>G
n.220-5187T>G
c.105167A>C (p.Tyr35056Ser)
c.79061A>C (p.Tyr26354Ser)
c.78920A>C (p.Tyr26307Ser)
c.104963A>C (p.Tyr34988Ser)
c.100361A>C (p.Tyr33454Ser)
c.100358A>C (p.Tyr33453Ser)
c.97400A>C (p.Tyr32467Ser)
c.79016A>C (p.Tyr26339Ser)
c.100511A>C (p.Tyr33504Ser)
c.100508A>C (p.Tyr33503Ser)
c.99941A>C (p.Tyr33314Ser)
c.97283A>C (p.Tyr32428Ser)
c.97202A>C (p.Tyr32401Ser)
c.78965A>C (p.Tyr26322Ser)
c.68819A>C (p.Tyr22940Ser)
 ClinVar
2g.178530546A=CA1310514732TTN,TTN-AS1c.98365T= (p.Tyr32789=)
c.79450T= (p.Tyr26484=)
c.79249T= (p.Tyr26417=)
c.78874T= (p.Tyr26292=)
c.106069T= (p.Tyr35357=)
c.101146T= (p.Tyr33716=)
n.446+6910A=
n.220-5186A=
c.105166T= (p.Tyr35056=)
c.79060T= (p.Tyr26354=)
c.78919T= (p.Tyr26307=)
c.104962T= (p.Tyr34988=)
c.100360T= (p.Tyr33454=)
c.100357T= (p.Tyr33453=)
c.97399T= (p.Tyr32467=)
c.79015T= (p.Tyr26339=)
c.100510T= (p.Tyr33504=)
c.100507T= (p.Tyr33503=)
c.99940T= (p.Tyr33314=)
c.97282T= (p.Tyr32428=)
c.97201T= (p.Tyr32401=)
c.78964T= (p.Tyr26322=)
c.68818T= (p.Tyr22940=)
2g.178530546A>CCA349407104TTN,TTN-AS1c.98365T>G (p.Tyr32789Asp)
c.79450T>G (p.Tyr26484Asp)
c.79249T>G (p.Tyr26417Asp)
c.78874T>G (p.Tyr26292Asp)
c.106069T>G (p.Tyr35357Asp)
c.101146T>G (p.Tyr33716Asp)
n.446+6910A>C
n.220-5186A>C
c.105166T>G (p.Tyr35056Asp)
c.79060T>G (p.Tyr26354Asp)
c.78919T>G (p.Tyr26307Asp)
c.104962T>G (p.Tyr34988Asp)
c.100360T>G (p.Tyr33454Asp)
c.100357T>G (p.Tyr33453Asp)
c.97399T>G (p.Tyr32467Asp)
c.79015T>G (p.Tyr26339Asp)
c.100510T>G (p.Tyr33504Asp)
c.100507T>G (p.Tyr33503Asp)
c.99940T>G (p.Tyr33314Asp)
c.97282T>G (p.Tyr32428Asp)
c.97201T>G (p.Tyr32401Asp)
c.78964T>G (p.Tyr26322Asp)
c.68818T>G (p.Tyr22940Asp)
2g.178530546A>GCA349407105TTN,TTN-AS1c.98365T>C (p.Tyr32789His)
c.79450T>C (p.Tyr26484His)
c.79249T>C (p.Tyr26417His)
c.78874T>C (p.Tyr26292His)
c.106069T>C (p.Tyr35357His)
c.101146T>C (p.Tyr33716His)
n.446+6910A>G
n.220-5186A>G
c.105166T>C (p.Tyr35056His)
c.79060T>C (p.Tyr26354His)
c.78919T>C (p.Tyr26307His)
c.104962T>C (p.Tyr34988His)
c.100360T>C (p.Tyr33454His)
c.100357T>C (p.Tyr33453His)
c.97399T>C (p.Tyr32467His)
c.79015T>C (p.Tyr26339His)
c.100510T>C (p.Tyr33504His)
c.100507T>C (p.Tyr33503His)
c.99940T>C (p.Tyr33314His)
c.97282T>C (p.Tyr32428His)
c.97201T>C (p.Tyr32401His)
c.78964T>C (p.Tyr26322His)
c.68818T>C (p.Tyr22940His)
 dbSNP gnomAD v3 gnomAD v4
2g.178530546A>TCA349407103TTN,TTN-AS1c.98365T>A (p.Tyr32789Asn)
c.79450T>A (p.Tyr26484Asn)
c.79249T>A (p.Tyr26417Asn)
c.78874T>A (p.Tyr26292Asn)
c.106069T>A (p.Tyr35357Asn)
c.101146T>A (p.Tyr33716Asn)
n.446+6910A>T
n.220-5186A>T
c.105166T>A (p.Tyr35056Asn)
c.79060T>A (p.Tyr26354Asn)
c.78919T>A (p.Tyr26307Asn)
c.104962T>A (p.Tyr34988Asn)
c.100360T>A (p.Tyr33454Asn)
c.100357T>A (p.Tyr33453Asn)
c.97399T>A (p.Tyr32467Asn)
c.79015T>A (p.Tyr26339Asn)
c.100510T>A (p.Tyr33504Asn)
c.100507T>A (p.Tyr33503Asn)
c.99940T>A (p.Tyr33314Asn)
c.97282T>A (p.Tyr32428Asn)
c.97201T>A (p.Tyr32401Asn)
c.78964T>A (p.Tyr26322Asn)
c.68818T>A (p.Tyr22940Asn)
2g.178530547T>ACA349407107TTN,TTN-AS1c.98364A>T (p.Glu32788Asp)
c.79449A>T (p.Glu26483Asp)
c.79248A>T (p.Glu26416Asp)
c.78873A>T (p.Glu26291Asp)
c.106068A>T (p.Glu35356Asp)
c.101145A>T (p.Glu33715Asp)
n.446+6911T>A
n.220-5185T>A
c.105165A>T (p.Glu35055Asp)
c.79059A>T (p.Glu26353Asp)
c.78918A>T (p.Glu26306Asp)
c.104961A>T (p.Glu34987Asp)
c.100359A>T (p.Glu33453Asp)
c.100356A>T (p.Glu33452Asp)
c.97398A>T (p.Glu32466Asp)
c.79014A>T (p.Glu26338Asp)
c.100509A>T (p.Glu33503Asp)
c.100506A>T (p.Glu33502Asp)
c.99939A>T (p.Glu33313Asp)
c.97281A>T (p.Glu32427Asp)
c.97200A>T (p.Glu32400Asp)
c.78963A>T (p.Glu26321Asp)
c.68817A>T (p.Glu22939Asp)
2g.178530547T>CCA430235188TTN,TTN-AS1c.98364A>G (p.Glu32788=)
c.79449A>G (p.Glu26483=)
c.79248A>G (p.Glu26416=)
c.78873A>G (p.Glu26291=)
c.106068A>G (p.Glu35356=)
c.101145A>G (p.Glu33715=)
n.446+6911T>C
n.220-5185T>C
c.105165A>G (p.Glu35055=)
c.79059A>G (p.Glu26353=)
c.78918A>G (p.Glu26306=)
c.104961A>G (p.Glu34987=)
c.100359A>G (p.Glu33453=)
c.100356A>G (p.Glu33452=)
c.97398A>G (p.Glu32466=)
c.79014A>G (p.Glu26338=)
c.100509A>G (p.Glu33503=)
c.100506A>G (p.Glu33502=)
c.99939A>G (p.Glu33313=)
c.97281A>G (p.Glu32427=)
c.97200A>G (p.Glu32400=)
c.78963A>G (p.Glu26321=)
c.68817A>G (p.Glu22939=)
 gnomAD v4
2g.178530547T>GCA349407106TTN,TTN-AS1c.98364A>C (p.Glu32788Asp)
c.79449A>C (p.Glu26483Asp)
c.79248A>C (p.Glu26416Asp)
c.78873A>C (p.Glu26291Asp)
c.106068A>C (p.Glu35356Asp)
c.101145A>C (p.Glu33715Asp)
n.446+6911T>G
n.220-5185T>G
c.105165A>C (p.Glu35055Asp)
c.79059A>C (p.Glu26353Asp)
c.78918A>C (p.Glu26306Asp)
c.104961A>C (p.Glu34987Asp)
c.100359A>C (p.Glu33453Asp)
c.100356A>C (p.Glu33452Asp)
c.97398A>C (p.Glu32466Asp)
c.79014A>C (p.Glu26338Asp)
c.100509A>C (p.Glu33503Asp)
c.100506A>C (p.Glu33502Asp)
c.99939A>C (p.Glu33313Asp)
c.97281A>C (p.Glu32427Asp)
c.97200A>C (p.Glu32400Asp)
c.78963A>C (p.Glu26321Asp)
c.68817A>C (p.Glu22939Asp)
 gnomAD v4
2g.178530548T>ACA349407110TTN,TTN-AS1c.98363A>T (p.Glu32788Val)
c.79448A>T (p.Glu26483Val)
c.79247A>T (p.Glu26416Val)
c.78872A>T (p.Glu26291Val)
c.106067A>T (p.Glu35356Val)
c.101144A>T (p.Glu33715Val)
n.446+6912T>A
n.220-5184T>A
c.105164A>T (p.Glu35055Val)
c.79058A>T (p.Glu26353Val)
c.78917A>T (p.Glu26306Val)
c.104960A>T (p.Glu34987Val)
c.100358A>T (p.Glu33453Val)
c.100355A>T (p.Glu33452Val)
c.97397A>T (p.Glu32466Val)
c.79013A>T (p.Glu26338Val)
c.100508A>T (p.Glu33503Val)
c.100505A>T (p.Glu33502Val)
c.99938A>T (p.Glu33313Val)
c.97280A>T (p.Glu32427Val)
c.97199A>T (p.Glu32400Val)
c.78962A>T (p.Glu26321Val)
c.68816A>T (p.Glu22939Val)
2g.178530548T>CCA349407108TTN,TTN-AS1c.98363A>G (p.Glu32788Gly)
c.79448A>G (p.Glu26483Gly)
c.79247A>G (p.Glu26416Gly)
c.78872A>G (p.Glu26291Gly)
c.106067A>G (p.Glu35356Gly)
c.101144A>G (p.Glu33715Gly)
n.446+6912T>C
n.220-5184T>C
c.105164A>G (p.Glu35055Gly)
c.79058A>G (p.Glu26353Gly)
c.78917A>G (p.Glu26306Gly)
c.104960A>G (p.Glu34987Gly)
c.100358A>G (p.Glu33453Gly)
c.100355A>G (p.Glu33452Gly)
c.97397A>G (p.Glu32466Gly)
c.79013A>G (p.Glu26338Gly)
c.100508A>G (p.Glu33503Gly)
c.100505A>G (p.Glu33502Gly)
c.99938A>G (p.Glu33313Gly)
c.97280A>G (p.Glu32427Gly)
c.97199A>G (p.Glu32400Gly)
c.78962A>G (p.Glu26321Gly)
c.68816A>G (p.Glu22939Gly)
2g.178530548T>GCA349407109TTN,TTN-AS1c.98363A>C (p.Glu32788Ala)
c.79448A>C (p.Glu26483Ala)
c.79247A>C (p.Glu26416Ala)
c.78872A>C (p.Glu26291Ala)
c.106067A>C (p.Glu35356Ala)
c.101144A>C (p.Glu33715Ala)
n.446+6912T>G
n.220-5184T>G
c.105164A>C (p.Glu35055Ala)
c.79058A>C (p.Glu26353Ala)
c.78917A>C (p.Glu26306Ala)
c.104960A>C (p.Glu34987Ala)
c.100358A>C (p.Glu33453Ala)
c.100355A>C (p.Glu33452Ala)
c.97397A>C (p.Glu32466Ala)
c.79013A>C (p.Glu26338Ala)
c.100508A>C (p.Glu33503Ala)
c.100505A>C (p.Glu33502Ala)
c.99938A>C (p.Glu33313Ala)
c.97280A>C (p.Glu32427Ala)
c.97199A>C (p.Glu32400Ala)
c.78962A>C (p.Glu26321Ala)
c.68816A>C (p.Glu22939Ala)
2g.178530548_178530551delinsTCTCCA1310514734TTN,TTN-AS1c.98360_98363delinsGAGA (p.Gly32787=)
c.79445_79448delinsGAGA (p.Gly26482=)
c.79244_79247delinsGAGA (p.Gly26415=)
c.78869_78872delinsGAGA (p.Gly26290=)
c.106064_106067delinsGAGA (p.Gly35355=)
c.101141_101144delinsGAGA (p.Gly33714=)
n.446+6912_446+6915delinsTCTC
n.220-5184_220-5181delinsTCTC
c.105161_105164delinsGAGA (p.Gly35054=)
c.79055_79058delinsGAGA (p.Gly26352=)
c.78914_78917delinsGAGA (p.Gly26305=)
c.104957_104960delinsGAGA (p.Gly34986=)
c.100355_100358delinsGAGA (p.Gly33452=)
c.100352_100355delinsGAGA (p.Gly33451=)
c.97394_97397delinsGAGA (p.Gly32465=)
c.79010_79013delinsGAGA (p.Gly26337=)
c.100505_100508delinsGAGA (p.Gly33502=)
c.100502_100505delinsGAGA (p.Gly33501=)
c.99935_99938delinsGAGA (p.Gly33312=)
c.97277_97280delinsGAGA (p.Gly32426=)
c.97196_97199delinsGAGA (p.Gly32399=)
c.78959_78962delinsGAGA (p.Gly26320=)
c.68813_68816delinsGAGA (p.Gly22938=)
2g.178530549C>ACA349407111TTN,TTN-AS1c.98362G>T (p.Glu32788Ter)
c.79447G>T (p.Glu26483Ter)
c.79246G>T (p.Glu26416Ter)
c.78871G>T (p.Glu26291Ter)
c.106066G>T (p.Glu35356Ter)
c.101143G>T (p.Glu33715Ter)
n.446+6913C>A
n.220-5183C>A
c.105163G>T (p.Glu35055Ter)
c.79057G>T (p.Glu26353Ter)
c.78916G>T (p.Glu26306Ter)
c.104959G>T (p.Glu34987Ter)
c.100357G>T (p.Glu33453Ter)
c.100354G>T (p.Glu33452Ter)
c.97396G>T (p.Glu32466Ter)
c.79012G>T (p.Glu26338Ter)
c.100507G>T (p.Glu33503Ter)
c.100504G>T (p.Glu33502Ter)
c.99937G>T (p.Glu33313Ter)
c.97279G>T (p.Glu32427Ter)
c.97198G>T (p.Glu32400Ter)
c.78961G>T (p.Glu26321Ter)
c.68815G>T (p.Glu22939Ter)
2g.178530549C=CA1310514736TTN,TTN-AS1c.98362G= (p.Glu32788=)
c.79447G= (p.Glu26483=)
c.79246G= (p.Glu26416=)
c.78871G= (p.Glu26291=)
c.106066G= (p.Glu35356=)
c.101143G= (p.Glu33715=)
n.446+6913C=
n.220-5183C=
c.105163G= (p.Glu35055=)
c.79057G= (p.Glu26353=)
c.78916G= (p.Glu26306=)
c.104959G= (p.Glu34987=)
c.100357G= (p.Glu33453=)
c.100354G= (p.Glu33452=)
c.97396G= (p.Glu32466=)
c.79012G= (p.Glu26338=)
c.100507G= (p.Glu33503=)
c.100504G= (p.Glu33502=)
c.99937G= (p.Glu33313=)
c.97279G= (p.Glu32427=)
c.97198G= (p.Glu32400=)
c.78961G= (p.Glu26321=)
c.68815G= (p.Glu22939=)
2g.178530549C>GCA349407112TTN,TTN-AS1c.98362G>C (p.Glu32788Gln)
c.79447G>C (p.Glu26483Gln)
c.79246G>C (p.Glu26416Gln)
c.78871G>C (p.Glu26291Gln)
c.106066G>C (p.Glu35356Gln)
c.101143G>C (p.Glu33715Gln)
n.446+6913C>G
n.220-5183C>G
c.105163G>C (p.Glu35055Gln)
c.79057G>C (p.Glu26353Gln)
c.78916G>C (p.Glu26306Gln)
c.104959G>C (p.Glu34987Gln)
c.100357G>C (p.Glu33453Gln)
c.100354G>C (p.Glu33452Gln)
c.97396G>C (p.Glu32466Gln)
c.79012G>C (p.Glu26338Gln)
c.100507G>C (p.Glu33503Gln)
c.100504G>C (p.Glu33502Gln)
c.99937G>C (p.Glu33313Gln)
c.97279G>C (p.Glu32427Gln)
c.97198G>C (p.Glu32400Gln)
c.78961G>C (p.Glu26321Gln)
c.68815G>C (p.Glu22939Gln)
2g.178530549C>TCA10611592TTN,TTN-AS1c.98362G>A (p.Glu32788Lys)
c.79447G>A (p.Glu26483Lys)
c.79246G>A (p.Glu26416Lys)
c.78871G>A (p.Glu26291Lys)
c.106066G>A (p.Glu35356Lys)
c.101143G>A (p.Glu33715Lys)
n.446+6913C>T
n.220-5183C>T
c.105163G>A (p.Glu35055Lys)
c.79057G>A (p.Glu26353Lys)
c.78916G>A (p.Glu26306Lys)
c.104959G>A (p.Glu34987Lys)
c.100357G>A (p.Glu33453Lys)
c.100354G>A (p.Glu33452Lys)
c.97396G>A (p.Glu32466Lys)
c.79012G>A (p.Glu26338Lys)
c.100507G>A (p.Glu33503Lys)
c.100504G>A (p.Glu33502Lys)
c.99937G>A (p.Glu33313Lys)
c.97279G>A (p.Glu32427Lys)
c.97198G>A (p.Glu32400Lys)
c.78961G>A (p.Glu26321Lys)
c.68815G>A (p.Glu22939Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530551_178530553delCA1310514737TTN,TTN-AS1c.98360_98362del (p.Gly32787del)
c.79445_79447del (p.Gly26482del)
c.79244_79246del (p.Gly26415del)
c.78869_78871del (p.Gly26290del)
c.106064_106066del (p.Gly35355del)
c.101141_101143del (p.Gly33714del)
n.446+6915_446+6917del
n.220-5181_220-5179del
c.105161_105163del (p.Gly35054del)
c.79055_79057del (p.Gly26352del)
c.78914_78916del (p.Gly26305del)
c.104957_104959del (p.Gly34986del)
c.100355_100357del (p.Gly33452del)
c.100352_100354del (p.Gly33451del)
c.97394_97396del (p.Gly32465del)
c.79010_79012del (p.Gly26337del)
c.100505_100507del (p.Gly33502del)
c.100502_100504del (p.Gly33501del)
c.99935_99937del (p.Gly33312del)
c.97277_97279del (p.Gly32426del)
c.97196_97198del (p.Gly32399del)
c.78959_78961del (p.Gly26320del)
c.68813_68815del (p.Gly22938del)
 dbSNP
2g.178530550delCA2662125998TTN,TTN-AS1c.98361del (p.Glu32788AsnfsTer?)
c.79446del (p.Glu26483AsnfsTer?)
c.79245del (p.Glu26416AsnfsTer?)
c.78870del (p.Glu26291AsnfsTer?)
c.106065del (p.Glu35356AsnfsTer?)
c.101142del (p.Glu33715AsnfsTer?)
n.446+6914del
n.220-5182del
c.105162del (p.Glu35055AsnfsTer?)
c.79056del (p.Glu26353AsnfsTer?)
c.78915del (p.Glu26306AsnfsTer?)
c.104958del (p.Glu34987AsnfsTer?)
c.100356del (p.Glu33453AsnfsTer?)
c.100353del (p.Glu33452AsnfsTer?)
c.97395del (p.Glu32466AsnfsTer?)
c.79011del (p.Glu26338AsnfsTer?)
c.100506del (p.Glu33503AsnfsTer?)
c.100503del (p.Glu33502AsnfsTer?)
c.99936del (p.Glu33313AsnfsTer?)
c.97278del (p.Glu32427AsnfsTer?)
c.97197del (p.Glu32400AsnfsTer?)
c.78960del (p.Glu26321AsnfsTer?)
c.68814del (p.Glu22939AsnfsTer?)
 gnomAD v4
2g.178530550T>ACA430235193TTN,TTN-AS1c.98361A>T (p.Gly32787=)
c.79446A>T (p.Gly26482=)
c.79245A>T (p.Gly26415=)
c.78870A>T (p.Gly26290=)
c.106065A>T (p.Gly35355=)
c.101142A>T (p.Gly33714=)
n.446+6914T>A
n.220-5182T>A
c.105162A>T (p.Gly35054=)
c.79056A>T (p.Gly26352=)
c.78915A>T (p.Gly26305=)
c.104958A>T (p.Gly34986=)
c.100356A>T (p.Gly33452=)
c.100353A>T (p.Gly33451=)
c.97395A>T (p.Gly32465=)
c.79011A>T (p.Gly26337=)
c.100506A>T (p.Gly33502=)
c.100503A>T (p.Gly33501=)
c.99936A>T (p.Gly33312=)
c.97278A>T (p.Gly32426=)
c.97197A>T (p.Gly32399=)
c.78960A>T (p.Gly26320=)
c.68814A>T (p.Gly22938=)
2g.178530550T>CCA430235194TTN,TTN-AS1c.98361A>G (p.Gly32787=)
c.79446A>G (p.Gly26482=)
c.79245A>G (p.Gly26415=)
c.78870A>G (p.Gly26290=)
c.106065A>G (p.Gly35355=)
c.101142A>G (p.Gly33714=)
n.446+6914T>C
n.220-5182T>C
c.105162A>G (p.Gly35054=)
c.79056A>G (p.Gly26352=)
c.78915A>G (p.Gly26305=)
c.104958A>G (p.Gly34986=)
c.100356A>G (p.Gly33452=)
c.100353A>G (p.Gly33451=)
c.97395A>G (p.Gly32465=)
c.79011A>G (p.Gly26337=)
c.100506A>G (p.Gly33502=)
c.100503A>G (p.Gly33501=)
c.99936A>G (p.Gly33312=)
c.97278A>G (p.Gly32426=)
c.97197A>G (p.Gly32399=)
c.78960A>G (p.Gly26320=)
c.68814A>G (p.Gly22938=)
2g.178530550T>GCA430235195TTN,TTN-AS1c.98361A>C (p.Gly32787=)
c.79446A>C (p.Gly26482=)
c.79245A>C (p.Gly26415=)
c.78870A>C (p.Gly26290=)
c.106065A>C (p.Gly35355=)
c.101142A>C (p.Gly33714=)
n.446+6914T>G
n.220-5182T>G
c.105162A>C (p.Gly35054=)
c.79056A>C (p.Gly26352=)
c.78915A>C (p.Gly26305=)
c.104958A>C (p.Gly34986=)
c.100356A>C (p.Gly33452=)
c.100353A>C (p.Gly33451=)
c.97395A>C (p.Gly32465=)
c.79011A>C (p.Gly26337=)
c.100506A>C (p.Gly33502=)
c.100503A>C (p.Gly33501=)
c.99936A>C (p.Gly33312=)
c.97278A>C (p.Gly32426=)
c.97197A>C (p.Gly32399=)
c.78960A>C (p.Gly26320=)
c.68814A>C (p.Gly22938=)

Number of alleles fetched